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| Question | Answer |
|---|---|
| which 2 bacs cause UTIs but usually just cause cystitis rather than sepsis? | Staph. saprophyticus and Corynebacterium D2 group |
| what does loss of spleen increase your risk for? | Strep pneumoniae, inc. pneumococcal pneumonia |
| why is Hib pneumonia hard to dx ? | not easily isolated from sputum |
| what organism causes yaws | T. pertenue (in tropics) |
| early stage of yaws | Papillomatous skin lesion that heals spontaneously, only to be followed by secondary lesions, which are large papillomatous nodules widely distributed. |
| Late stage of yaws | gummas of organs and nasopharynx which may ulcerate through skin |
| What is the organism in pinta | T. carateum (very rare, in tropical Americas) |
| what is the primary lesion in pinta? | Coalescing pruritic papules on the extremities, face, neck, chest, or abdomen. May last months. |
| Secondary lesions in pinta | "pintids": disseminated small, scaly papules which may become dyschromic and then achromic |
| What species causes bejel? | T. pallidum ssp. endemicum, a form of syphilis that is not sexually transmitted and is found in kids. "endemic syphilis" |
| transmission of bejel | direct contact or fomites |
| symptoms of bejel | primary lesion rarely observed and usually in oral mucosa, but otherwise identical to syphilis |
| what organism causes Lyme dz | Borrelia burgdorferi. "deer ticks": Ixodes. |
| stage 1 of Lyme | erythema chronicum migrans at site of tick bite, the center of which can be vesicular or necrotic. only time when can culture organism |
| stage 2 of lyme | disseminated infection, within days or weeks of the first stage. Malaise, fever, chills, muscle pain, arthritis, meningitis, neuropathies, conjunctivitis, LAD, etc. May have myocarditis but rarely fatal |
| why is stage 2 of Lyme dz hard to dx? | because nonspecific symptoms and antibody test not helpful |
| stage 3 of Lyme | persistent infection from months to years after dz onset. May have a prolonged latency period w/ nervous system damage (encephalitis, peripheral neuropathy) |
| what are rickettsial organisms | gram neg coccobacilli, obligate intracellular parasites. only coxiella can survive outside host |
| what is the only rickettsial dz where humans are not just incidental hosts? | Epidemic typhus, louseborn R. prowazeckii |
| how infectious are rickettsioses? | very (single organism) |
| how is Rocky Mtn Spotted Fever transmitted? | Rickettsia rickettsii, transmitted by Dermacentor tick. more common in SE states |
| incubation period of Rocky Mtn Spotted Fever | 1wk |
| symptoms of Rocky Mtn Spotted Fever | Begins w/ fever, myalgia, headache. Rash does not appear until 3-5 days later. A centripetal rash which begins at palms and soles. lesions may have central petechial hemorrhages |
| organism of Rickettsialpox and how spread | Rickettsia akari, spread among mice via mouse mites; humans are incidental. mite bite |
| symptoms of Rickettsialpox | Primary lesion at site of mite bite is a papule that becomes an eschar; within a week, get chills, fever, headache, followed by chickenpox-like rash |
| prognosis of rickettsialpox | usually resolves spontaneously but should be treated anyhow |
| how is Q fever transmitted | Coxiella burnetii, through contact w/ blood and tissues and placentas of mammals (an occupational hazard). Can also be aerosol |
| symptoms of Q fever | pneumonia, endocarditis, hepatitis, osteomyelitis, encephalitis. rarely fatal. |
| vector or Epidemic typhus | body louse pediculus humanus corporis |
| symptoms of epidemic typhus | from wound site, organism spreads hematogenously to infect endothelial cells and cause vasculitis. First symptoms are septicemia. Rash begins in axillae and trunk, spread centrifugally. usually resolves but can get neuro complications, pneumonia, renal f |
| what is Brill-Zinser disease | a mild form of epidemic typhus, a possible reactivation of latent typhus due to stress |
| what are the only vertebrate vectors for epidemic typhus? | flying squirrels |
| what causes Human monocytic ehrlichiosis | Ehrlichia chaffeensis (vector: Lone star tick) |
| what causes human granulocytic anaplasmosis | Anaplasma phagocytophilum (an ehrlichiosis). deer and dog ticks. |
| in both types of ehrlichiosis, how do organisms invade | come from bite, go to bone marrow and lymphoreticular system. organisms form "morulae" in intracytoplasmic inclusions (HME: monocytes/macrophages, HGA: neutrophils) |
| what is Yersinia pestis | gram neg rod |
| toxins in cholera | an exotoxin increases adenylate cyclase activity, and also secretes neuraminidase which degrades host cell membrane gangliosides --> monosialyl product --> enterotoxin receptor |
| what sort of motility does cholera have? | "shooting star" motility |
| what dz does Vibrio parahemolyticus cause? | acute colitis by invading large bowel (cholera doesn't do that). Has less potent enterotoxin. Halophilic, lives in seafood. |
| What dz do V. vulnificus and V. alginolyticus cause | wound infections and septicemia, especially serious in cirrhotic patients. Halophilic. |
| Dx of HSV | Cowdry A intranuclear inclusions, multinucleated syncytia, Tzanck smear, immunoperoxidase, monoclonal antibody staining, rapid antigen detection, or growth in tissue culture (only 1-2 days) |
| tx of HSV | acyclovir, foscarnet |
| what is lymphogranuloma venereum | caused by chlamydia. A genital ulcer w/ necrotizing lymphadenitis (tender, fluctuant, ulcerative nodes) |
| what diseases does chlamydia cause in newborns | conjunctivitis, pneumonia (2-3mo) |
| dx of chlamydia | Serology, DNA probes/PCR, tissue culture, intracytoplasmic inclusions from cervical or conjunctival scrapings. |
| tx of chlamydia | azithromycin, doxycycline |
| natural hx of gonorrhea | encapsulated gram neg diplococcus that binds to epithelial cells via pili and produces endotoxins which can cause multiorgan failure. the outer membrane protein mediates ciliary destruction and cell death in in vitro models. |
| Diseases of gonorrhea | urethritis and cervicitis that can progress to PID, endometritis, opthalmia neonatorum, arthritis, disseminated dz. Complement deficient folks more prone to dissemination. |
| dx of gonorhea | gram stain, culture, DNA probes |
| tx of gonorrhea | ceftriaxone, quinolones |
| symptoms of trichomonas urethritis | mucosal itching, burning, redness, frothy exudate |
| dz of trichomonas vaginalis | strawberry mucosa, creamy exudate, or micro via visualization of organism |
| tx of trichomonas vaginalis | metronidazole |
| organism of bacterial vaginosis | Gardnerella vaginalis |
| dz of bacterial vaginosis | gram stain or wet prep w/ clue cells |
| tx of bacterial vaginosis | metronidazole |
| organism in chancroid | Haemophilus ducreyi, a gram neg coccobacillus |
| symptoms of chancroid | a draining ulcer: "soft chancre" w/ painful swollen pus-containing inguinal lymph nodes. shallow and small. mild systemic symptoms |
| dx of chancroid | lesion scrapings, gram stain, culture |
| tx of chancroid | erythromycin |
| what is koilocytosis | large squamous epithelial cells w/ shrunken nuclei and large cytoplasmic vacuoles |
| can HPV be transferred to neonate | yes (delivery) |
| dx of HPV | DNA probes |
| tx of HPV | topical, interferon, surgery |
| organism in granuloma inguinale | Calymmatobacterium granulomatis, a gram neg bacillus which has not been cultured |
| where is granuloma inguinale endemic | tropical regions |
| symptoms of granuloma inguinale | a papule which enlarges a sore w/ indurated borders and satellite lesions, no lymphadenitis. If uncomplicated, the lesions are painless. Secondary lesions can spread and autoinoculation can cause disseminated infection. Microabscesses. |
| what are Donovan bodies | small gram neg rods within macrophages, seen in granuloma inguinale |
| how to dx granuloma inguinale | giemsa stain |
| tx granuloma inguinale | tetracycline |
| symptoms of congenital syphilis | diffuse rash w/ sloughing epithelium on palms, soles, mouth, anus. Osteochondritis and periostitis of all bones, collapsed nasal bridge, saber tibias and shins. severe diffuse fibrosis of lungs and liver. |
| triad of late-occurring congenital syphilis | Interstitial keratosis, Hutchinson's teeth, and 8th nerve deafness |
| Dx of syphilis | A hallmark is obliterative endarteritis and plasma cell-rich mononuclear infiltrates. It is not culturable, so detect via silver stains, dark field, immunofluorescence. |
| tx of syphilis | penicillin or doxy/tetracycline if allergic |
| what type of virus causes measles? | aka rubeola. an RNA paramyxovirus |
| what is in measles envelope | hemagglutinin which binds to host cells |
| how does measles spread | droplets |
| incubation of measles | 10-14 days |
| symptoms of measles | rash on face and trunk and arms caused by dilated vessels and edema. virus multiplies intracellularly --> transient viremia --> colonization of RES --> 2ndary viremia w/ rash and Koplik spots |
| complications of measles | Pneumonia, encephalitis, subacute sclerosing panencephalitis |
| what are micro findings in measles | multinucleated giant cells of 2 types: Warthin-Finkeldey reticular endothelial giant cells w/ up to 100 nuclei but no inclusions, and epithelial giant cells in almost all organs w/ both nuclear and ytoplasmic inclusions. |
| What are findings in lymphoid organs in measles | reactive hyperplasia and Warthin-Finkeldey cells appear during incubation period |
| dx of measles | growth of virus in tissue culture, serology, PCR, direct detection of giant cells |
| what kind of virus causes german measles/rubella | togavirus, spread by droplets |
| symptoms of rubella | similar to measles but less severe |
| teratogenic effects of rubella | deafness, glaucoma or cataracts, heart dz, MR. worse if infected early in pregnancy |
| dx of rubella | serology, culture |
| how is mumps spread | droplets |
| symptoms of mumps | a transient viremia w/ transient inflammation of parotids and less commonly testes (orchitis which may result in sterility), pancreas (may cause parenchymal or fat necrosis), CNS |
| dx of mumps | culture, serology |
| symptoms of chickenpox | rash 2 wks after respiratory infection spreads from torso to head and extremities (centrifugal). lesions progress from macule to vesicle w/ intranuclear inclusions, crusting in a few days. |
| dz of chickenpox | Tzanck smear, serology, culture |
| what is erythema infectiousum | aka 5th disease, caused by parvovirus B19. produces slapped cheeks |
| effects on fetus of erythema infectiousum | hydrops, death |
| what is erythema subitum | 6th disease (HHV6), common in infants w/ high fever and rash. |
| incubation period of whooping cough | <1wk-3wks |
| dx of whooping cough | direct fluorescent antibody and culture from nasopharyngeal swab. |
| tx of whooping cough | erythromycin |
| what organs does diphtheria toxin damage | necrosis and mucosal erosion of respiratory epithelium and heart, nerves, kidneys |
| complications of diptheria | myocardial damage |
| dx of diptheria | clinical, culture from respiratory sample |
| tx of diptheria | antitoxin + erythromycin |
| what family is RSV | RNA paramyxovirus |
| how is RSV transmitted | highly infectious via respiratory or eyes |
| when are RSV outbreaks | winter, spring |
| incubation of RSV | 2-8 days |
| symptoms of RSV | in kids <2 yrs, bronchiolitis: necrosis of bronchiole epithelium w/ obstruction of lumens by sloughing, and increased mucous. In older kids, tracheobronchitis |
| dx of RSV | direct detection of viral antigen or culture |
| tx of RSV | aerosol ribavirin |
| what organisms cause otitis media | S. pneumoniae, H. influenzae, Moraxella catarrhalis |
| complications of otitis media | hearing loss, meningitis |
| tx of otitis media | amoxicillin, clavulanic acid |
| how to detect active HAV? | IgM HAVAb |
| what serologic marker indicates low HBV transmissibility | HBcAb |
| What serologic marker indicates high HBV transmissibility | HBeAg |
| genome of HIV | diploid; 2 molecules of RNA |
| what is p24? | rectangular nucleocaspid protein in HIV |
| what is gp41 and gp120? | envelope proteins in HIV? |
| what is CCR5 mutation? | a mutation which when homozygous gives you immunity to HIV, and in heterozygotes gives a slower course of HIV. 1% of US whites. |
| what is CXCR1 mutation? | mutation which causes rapid progression of HIV to AIDS. 20% of US whites. |
| micro signs of HIV encephalitis | microglial nodules w/ multinucleated giant cells |
| how does HIV gain access to CNS in HIV encephalitis | infected macrophages |
| what are normal form of prions? pathologic form? | normal: alpha helix. pathologic: beta sheets. |
| what are dominant normal flora in colon? | Bacteroides fragilis> E. Coli |
| what are normal flora in vagina? | Lactobacillus. Colonized by E. coli and group B strep. |
| common causes of pneumonia for kids 6 wks --18 yrs | Viruses (RSV), Mycoplasma, Chlamydia pneumoniae, S. pneumonia |
| common causes of pneumonia for adults 18-40 | Mycoplasma, Chlamydia pneumoniae, S. pneumoniae |
| common causes of pneumonia for adults 40-65 | S. pneumoniae, H. influenzae, Anaerobes, Viruses, Mycoplasma |
| Common causes of pneumonia in the elderly | S. pneumoniae, viruses, anaerobes,H. influenzae, gram neg rods |
| what are common causes of pneumonia in neonates? | Group B strep, E coli |
| What are the atypical pneumonias | Mycoplasma, Legionella, Chlamydia |
| what are common postviral pneumonias | Staph, Hib |
| what tends to cause meningitis in newborns | Group B strep, E. coli, Listeria |
| what tends to cause meningitis in kids 6mo-6yrs | S. pneumoniae, Neisseria, Hib, enteroviruses |
| what tends to cause meningitis in people 6-60years | Neisseria, enteroviruses, S. pneumoniae, HSV |
| What tends to cause meningitis in the elderly? | S. pneumoniae, Gram neg rods, Listeria |
| CSF finding in bacterial meningitis | Pressure up, increased PMNs, increased protein, decreased sugar |
| CSF findings in fungal and TB meningitis | increased pressure, increased lymphocytes, increased protein, decreased sugar |
| CSF findings in viral meningitis | normal or elevated pressure, increased lymphocytes, normal protein, normal sugar |
| what organism usually causes osteomyelitis | S.aureus |
| what are sexually transmitted causes of osteomyelitis | gonorrhea. septic arthritis more common than osteo though |
| what tends to cause osteomyelitis in sickle cell | Salmonella |
| purpose of pituitcytes | dispersed throughout nerve fibers in neurohypophysis, serve as glia |
| pituitary microadenomas vs macroadenomas | Micro <10mm |
| Microscopic appearance of pituitary adenomas | Sheets, cords, nests, or papillae. Nests lack the regular, thick reticulin found in normal adenohypophysis. |
| What is pituitary apoplexy? | spontaneous hemorrhage of a pituitary adeoma. Compressive symptoms suddenly become significant. Headache. |
| Gross morphology of prolactinomas | May be sparsely or densely granulated. 2/3 are macroadenomas, 1/3 micro. May be calcified and cystic and may have amyloid spheres within the tumor |
| symptoms of prolactinomas | amenorrhea, infertility, impotence, galactorrhea |
| tx of prolactinoma | bromocriptine or resection |
| What do somatotroph adenomas cause? | GH excess: acromegaly in adults and gigantism in kids |
| symptoms of acromegaly | enlargement of hands, feet, and head w/ frontal bossing and large tongue, broad nose, prominent jaw, and soft tissue enlargement |
| what do corticotroph adenomas cause? | Cushing's disease. |
| structure of corticotroph adenomas | Usually basophilic microadenomas. "Crook's hyaline" may accumulate in the cytoplasm of the non-adenomatous anterior lobe. |
| What do gonadotroph adenomas cause? | usually no recognizable clinical syndrome. |
| What are the rarest pituitary adenomas? | Thyrotroph adenoma and null cell adenoma |
| How common is pituitary carcinoma? | very rare, dx only once it has metastasized. |
| symptoms of diabetes insipidus | polyuria, polydipsia, thirst. |
| most common causes of diabetes insipidus | ADH deficiency secondary to neoplastic or inflammatory interruption of the hypothalamo-hypophyseal axis, iatrogenic (surgical or radiation), head injury, eosinophilic granuloma, or idiopathic |
| Causes of SIADH | paraneoplastic (small cell carcinoma), pulmonary dz (pneumonia, TB), CNS problems (intracranial hemorrhage or infections), and drugs |
| Who most often gets craniopharyngiomas? | kids and young adults |
| prongnosis of craniopharyngiomas | benign and slow growing. May encroach on optic chiasm, 3rd ventricle, and temporal lobes. |
| Pathology of craniopharyngiomas | Derived from Rathke's pouch. Identified as adamantinomas (a particular jaw tumor). Cystic, multiloculated, and calcified w/ machine oil contents. Microcysts w/ strat squamous epith in a loose fibrous stroma. |
| what gliomas can affect the pituitary? | juvenile pilocytic astrocytoma |
| from what does the adrenal gland arise? | coelomic mesenchymal cells near the urogenital ridge |
| where may ectopic adrenal tissue be found? | in the retroperitoneum between the diaphragm and the pelvis. Usually it's only cortex, not medulla. May be in subcapsular kidney, testes, ovarian cortex, and inguinal hernia sac. |
| what does the zona glomerulosa secrete? | Aldosterone |
| what regulates aldosterone secretion? | renin-angiotensin and K+ conc. |
| What percentage of the adrenal cortex is the zona fasciculata? | 75% (not distinct from Z. glomerulosa) |
| What does the zona fasciculata secrete? | glucocorticoids (under ACTH control), and sex steroids |
| What does the zona reticularis secrete? | glucocorticoids and sex steroids |
| what is Cushing's disease? | ACTH-dependent hypercortisolism due to pituitary adenom or multiple microadenomas. |
| What is the dexamethasone suppression test? | Used to distinguish ACTH-dependent Cushing's from independent forms. Give 1 mg orally at night, measure plasma cortisol in a.m. In Cushing's SYNDROME, plasma cortisol >280 (normal <<140). Dexamethasone suppresses ACTH, so doesn't affect adrenal tumors. |
| What is Nelson's syndrome? | Caused when both adrenals have been removed in a Cushing's disease patient. Increased skin pigment and increased size of pituitary adenomas due to loss of feedback inhibition by cortisol |
| peak incidence of adrenal adenoma | 50 yrs, more common in women |
| Peak incidence of adrenal cortical carcinoma | 40 yrs, poor prognosis. BUT 50% of Cushing's syndrome cases in kids. |
| In whom is diffuse micronodular hyperplasia of the adrenal cortex common? | in kids. may be unilateral. |
| Appearance of diffuse micronodular hyperplasia of the adrenal | Glands are not enlarged, but have many small, dark brown and black pigmented nodules. |
| inheritance of diffuse micronodular adrenal hyperplasia | autosomal dominant |
| How common is adrenal cortical hyperplasia? | uncommon |
| In whom is ectopic ACTH secretion more common? | men, 5th-6th decade |
| long term administration of what drug can cause Cushing's syndrome? | steroids |
| What is Conn syndrome? | adrenal adenoma which secretes aldosterone, leading to hyperaldosteronism. |
| in whom is Conn's syndrome most common? | women, 4th-5th decade |
| How to distinguish a Cushing's syndrome adrenal adenoma from Conn syndrome | Cushings: ~4 cm, uninvolved cortex and contralateral gland atrophy. Conn syndrome: small, solitary, <2cm. uninvolved cortex is not atrophic. |
| What is the most common cause of primary hyperaldosteronism | Conn syndrome |
| symptoms of hyperaldosteronism | Asymptomatic diastolic hypertension, hypokalemia w/ weakness and fatigue. |
| lab findings in hyperaldosteronism | hypokalemia, metabolic alkalosis, increased aldosterone, and suppression of plasma renin activity |
| What tends to cause congenital adrenal hyperplasia? | a number of autosomal recessive (ch6) enzymatic defects in the synthesis of cortisol from cholesterol. Steroid deficiency --> unopposed ACTH --> adrenal hyperplasia. May have many clinical manifestations. |
| What is the most common cause of adrenogenital syndrome? | 21-hydroxylase deficiency (>90%) |
| what is the mechanism of 21-hydroxylase deficiency | P450c1 (21hydroxylase) converts 17-hydroxyprogesterone to 11-deoxycortisol. 2 forms: salt-wasting form (more common) and simple virilizing form |
| symptoms of salt-wasting form of 21-hydroxylase deficiency | Almost no aldosterone, and little cortisol secretion. Hyponatrema, hyperkalemia, dehydration, hypotension, increased renin within first 2 weeks of life. Can be fatal. Also the block in cortisol synthesis causes excess androgen production --> virilization |
| symptoms of the simple virilizing form of 21-hydroxylase deficiency | due to a less than complete enzyme blockade. Aldosterone is only mildly reduced. Females have more severe symptoms, are pseudohermaphrodites (normal internal reproductive organs). Boys: sexual precocity. Early epiphyseal closure and stunted growth. |
| fertility problems in 21-hydroxylase deficiency (simple virilizing form) | women sterile,men can be fertile |
| What are the symptoms of 11-beta-hydroxylase deficiency. | Aka P450c11 deficiency. Androgen and deoxycorticosterone excess causes hypokalemia, hypertension. An adrenogenital syndrome |
| How much of the adrenal cortex must be destroyed to cause symptoms of hypoadrenalism? | >90% |
| etiologies of adrenal cortex hypofunction | crisis in a patient with chronic adrenocortical insufficiency. Secondary insufficiency: pituitary or hypothalamic. Steroid withdrawal. |
| What is Addison's disease | primary failure of adrenal cortex to make hormones |
| causes of Addison's disease | used to be TB, but now mostly autoimmune adrenalitis (isolated or part of 2 different polyglandular autoimmune endocrinopathies) |
| Type 1 polyglandular autoimmune endocrinopathy | Rare, autosomal recessive, slightly female dominance. Seen in older kids, adolescents. Most have adrenal insufficiency, hypoparathyroid, and chronic mucocutaneous candidiasis. Other findings: ovarian failure, hypothyroid, malabsorption, pernicious anemia |
| Type II polyglandular autoimmune endocrinopathy | aka Schmidt syndrome. More common than Type I. More common in women ages 20-40. Half are familial. Always have adrenal dz and usually thyroid too. Type I DM, ovarian failure common. |
| tuberculous adrenalitis | 10-15% of cases of Addison's disease in US. Usually respresents disseminated dz in lung or GU tract, involving both cortex and medulla. |
| gross findings in Addison's disease | pale, atrophic gland weighing 2-3g w/ microscopic lymphoplasmacytic infiltrate |
| symptoms of Addison's disease | Weakness, anorexia, weight loss. Tan pigmentation of skin w/ dark patches on mucous membranes due to POMC. Fatigue, hypotension, GI complaints, personality changes. Low serum Na, high serum K. decreased glucose, decreased plasma cortisol |
| ACTH levels in Addison's disease | normal or increased |
| how to dx Addison's disease | measure steroid leels after ACTH stimulation. If don't increase, suspect. |
| What is acute adrenal insufficiency | a medical emergency more related to mineralocorticoid than glucocorticoid deficiency. Caused by abrupt steroid withdrawal, precipitated by stress or infection from surgery. Waterhouse-Friedrichsen syndrome, DIC |
| symptoms of Waterhouse-Friderichsen syndrome | Acute bilateral hemorrhagic infarct of the adrenal cortex secondary to meningococcemia or other septicemia |
| Clinical symptoms of acute adrenal insufficiency | rapid and progressive hypotension --> shock, can be fatal |
| What causes secondary adrenal insufficiency | destruction of pit and panhypopituitarism due to any cause, including metastatic cancer, infection, infarct. |
| symptoms of isolated ACTH deficiency due to secondary adrenal insufficiency | No hyperpigmentation. Does not require mineralocorticoid replacement therapy. |
| Lab findings in secondary adrenal insufficiency | low plasma ACTH, secretion of glucocorticoids in response to ACTH. |
| What causes tertiary adrenal insufficiency? | interference w/ CRH secretion. |
| what is the adrenal medulla derived from? | primitive neural crest --> chromaffin cells, autonomic ganglion cells, and extra-adrenal paraganglionic cells |
| How to stain chromaffin cells | Zenker's solution |
| what do VMA levels reflect? | total NE and E |
| what do HVA levels reflect? | dopamine (its final metabolite) |
| what do pheochromocytomas secrete? | E, NE, dopamine |
| nonfamilial pheochromocytoma age | 4th-5th decades |
| pheochromocytoma vs paraganglioma | Pheochromocytoma is in the adrenal medulla and is functional, whereas paraganglioma is extra-adrenal and nonfunctional |
| rule of 10s for pheochromocytoma | 10% extraadrenal, 10% bilateral, 10% metastasize, 10% familial (MEN 2a and 2b, neurofibromatosis, von Hippel-Lindau, Sturge-Weber, McCune-Albright syndrome) |
| incidence of familial pheochromocytoma | childhood, more common in boys |
| can you distinguish a malignant from a benign pheochromocytoma by looking? | no |
| 3 patterns of hypertension in pheochromocytoma | Constant, constant w/ paroxysmal attacks, and intermittent |
| complications of paroxysmal hypertension in pheochromocytoma | CHF, pulmonary edema, MI, v-fib, cerebral hemorrhage, death. Can be precipitated by stress, exercise, change in position, palpation of tumor. Can cause catecholamine-induced cardiomyopathy secondary to ischemia or direct toxicity |
| Diagnosis of pheochromocytoma | urinary catecholamines and their metabolites (metanephrine, VMA) |
| 3 types of paragangliomas | Branchiomeric (associated w/ parasympathetic system, located near major arteries and cranial nerves of head and neck, including carotid bodies), intravagal (along vagus, behind abdominal aorta), and visceral paragangliomas within organs like the bladder. |
| common age for paragangliomas | 30-60 years |
| Where are paragangliomas more likely to be malignant/ | retroperitoneum |
| Gross features of paragangliomas | 1-6 cm, encapsulated but may be densely adherent to adjacent vessels, making it hard to excise. |
| Microscopic of paragangliomas | Zellballen = small clusters of well-differentiated neuroendocrine cells, or cords w/ prominent stroma, with or without spindle cell component. |
| origin of neuroblastoma | neural crest |
| where do neuroblastomas originate? | in medulla or sympathetic ganglia, from the posterior cranial fossa to the coccyx. 1/3 arise in the adrenal gland, 1/3 in other abdominal sites, and 20% in posterior mediastinum. |
| clinical features of adrenal neuroblastoma | abdominal mass, malaise. >90% secrete catecholamines, particularly NE. |
| prognosis of adrenal neuroblastoma | Metastasis is rapid and widespread. Prognosis depends on age and stage. Spontaneous remission has been reported and many differentiate into ganglioneuroma, a benign tumor. |
| lab findings in adrenal neuroblastoma | VMA, HVA, n-myc |
| origin of inferior parathyroid glands | 3rd branchial pouch |
| origin of thymus | 3rd branchial pouch |
| origin of superior parathyroids | 4th branchial pouch |
| origin of lateral thyroid | 5th branchial pouch. = ultimobranchial body. |
| what cells make PTH? | Chief cells. Small cells with pale cytoplasm, with fat droplets. Most are inactive at any given time. |
| What are oxyphil cells? | in parathyroids, nonfunctional normally. Lots of eosinophilic cytoplasms w/ many mitoses. Not present in kids. |
| Do kids have fat cells in parathyroids | not much, until adulthood where it becomes 30-40% of glands. |
| effects of PTH on bone | In minutes, increases rate of Ca release. In hours, increases the number of osteoclasts and osteoblasts, increasing bone remodeling. Continuous exposure: resorption via cytokine activation of osteoclasts from osteoblasts. Intermittent: net bone formation. |
| effects of PTH on kidney | decreases proximal tubule P resorption, and increases distal tubule Ca reabsorption. Stimulates renal vit D synthesis. |
| How does magnesium affect PTH secretion | Hypomagnesemia suppresses PTH secretion, and hypermagnesemia stimulates it. |
| PTH receptor | G protein coupled |
| what does calcitonin come from? | thyroid C cells |
| incidence of primary hyperparathyroidism | 3rd-5th decades, female, mostly nonfamilial. Risk factors include MEN syndrome and irradiation |
| MEN 1 | Wermer's syndrome. Hyperplasia/neoplasia of parathyroids in 90%. Pancreatic islet cell or GI endocrine cell and pituitary tumors. |
| MEN 2A | = Sipple's syndrome. Medullary thyroid carcinoma. Hyper or neoplasia of the parathyroids. Pheochromocytoma. |
| What does the PRAD 1 translocation on ch11predispose to? | 10-20% of sporadic adenomas. encodes cyclin D1, a cell cycle regulator. |
| Where is the MEN1 mutation? | ch11 (tumor suppressor gene loss) |
| symptoms of primary hyperparathyroidism | 50-80% asymptomatic w/ incidental hypercalcemia. Painful bones, osteitis fibrosa cystica (full blown dz), stones in kidney, aorta, mitral valve, gallbladder. Abdominal groans (gallstones, ulcer, pancreatitis, nausea, constipation). Depression, lethargy, |
| how to remember symptoms of primary hyperparathyroidism | "Bones, stones, groans, and moans": painful bones, calcification (stones), abdominal groans, psychic moans. |
| effect of hyperparathyroid on QT | shortening |
| prognosis of primary hyperparathyroidism | bone and neuromuscular lesions frequently reverse, but renal lesions may continue to progress after treatment. |
| etiology of primary hyperparathyroidism | 80-85% are parathyroid adenomas, 15% primary parathyroid (chief cell hyperplasia), and 5% parathyroid carcinoma |
| findings in parathyroid adenoma | enlargement of 1 gland, well-circumscribed, tan, soft. Other glands are normal or atrophic. Usually inferior glands, but sometimes in odd locations. |
| histological appearance of parathyroid adenoma | Chief cell proliferation with few oxyphils. Loss of adipose, rim of compressed non-neoplastic parathyroid |
| findings in primary parathyroid hyperplasia (chief cel hyperplasia) | Gross asymmetric enlargement of 2+ glands, soft and tan with loss of adipose. Diffuse or nodular proliferation of chief cells and some oxyphils. Low adipose. NO compressed normal tissue. |
| sex balance in parathyroid carcinoma | equal |
| clinical features suggestive of parathyroid carcinoma | Ca>14, PTH 2-3x normal, severe symptoms, palpable neck mass, and difficult surgical dissection. |
| gross appearance of parathyroid carcinoma | enlarged, irregular gray-white gland. May resemble adenoma. vascular invasion and invasion beyond capsule suggest malignancy |
| prognosis of parathyroid carcinoma | 1/3 have local recurrence and there is distant metastasis in 1/3. If recurrent, it may be slow-growing. |
| what is secondary hyperparathyroidism | Chronic hypocalcemia causes excess PTH production. Renal failure is the most common cause. Other causes: inadequate dietary calcium or vitamin D, steatorrhea/malabsorption, abnormal vitamin D metabolism. |
| what is calciphylaxis? | vascular calcification causing ischemia in skin and other organs |
| what is renal osteodystrophy? | bone disease in patients with renal failure and secondary hyperparathyroidism |
| prognosis of secondary hyperparathyroidism | often reversible |
| Etiology of tertiary hyperparathyroidism | Autonomous parathyroid hyperfunction in a patient with secondary hyperparathyroidism, following dialysis or renal transplant |
| lab findings in tertiary hyperparathyroidism | similar to 1' hyperparathyroid |
| tx of tertiary hyperparathyroidism | surgery to prevent loss of renal graft |
| Conditions that mimic primary hyperparathyroidism | Lithium (causes parathyroid replication, in 10% of Li patients). Hypercalcemia of malignancy, familial hypercalcemic hypocalciuria |
| most common cause of symptomatic hypercalcemia in adults | hypercalcemia of malignancy |
| inheritance of familial hypercalcemic hypocor mildly hyperplastic. | autosomal dominant, due to mutation in Ca-sensing receptor, causing excessive PTH secretion. But PTH is still lower than primary hyperparathyroidism |
| symptoms of familial hypercalcemic hypocalciuria | asymptomatic, but often detectable at birth or early childhood. Usually does not need treatment unless homozygous and severe. |
| Etiology of hypoparathyroidism | Iatrogenic, Digeorge/velocardiofacial syndrome, primary idiopathic atrophy (autoimmune), familial |
| when does familial hypoparathyroidism usually appear | 1st decade |
| what causes familial hypoparathyroidism | Polyglandular autoimmune (PGA) syndromes Type 1 and 2, autosomal dominant hypocalcemia caused by an activating mutation in the Ca receptor, mitochondrial, or idiopathic with no other defects. |
| what is Type 1 polyglandular autoimmune syndrome (PGA) | = autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Mucocutaneous candidiasis, hypoparathyroid, adrenal insufficiency, autosomal recessive. |
| Symptoms of hypoparathyroidism | Neuromuscular irritability (tetany, circumoral numbness, distal extremity paresthesias, carpopedal spasm, and laryngospasm, seizure, Chvostek sign, Trousseau sign, mental status changes, EPS). Raised ICP/papilledema. calcification:basal ganglia, lens |
| what is Trousseau's sign | occluding the distal forearm circulation --> carpal spasm |
| cardiac effects of hypoparathyroidism | QT prolongation |
| effects of hypoparathyroidism on teeth | defective development |
| What is pseudohypoparathyroidism caused by | Familial resistance of PTH receptor: Type 1a, 1b, and II. |
| Type II pseudohypoparathyroidism | defect in response to PTH distal to cAMP production |
| Type Ia and PPHP pseudohypoparathyrodism | deficiency in Gs-alpha subunit that mediates cAMP stimulation by PTH and other hormones |
| inheritance of PHP-1a vs PPHP | PHP-1a: mutant allele from mother. PPHP: from father (paternal imprint suppresses the mutant allele, so hormones are normal) |
| symptoms of Albright's hereditary osteodystrophy | Round face, short stature, short 4th and 5th metacarpals and metatarsals, and ectopic calcification |
| what diuretic causes high bone turnover? | thiazides |
| what vitamin intoxication causes high bone turnover? | vit A |
| what metal intoxication can cause renal failure, resulting in serum Ca abnormalities? | Al |
| what abnormalities can cause transient hypocalcemia? | hypoalbuminemia, alkalosis. Severe sepsis, burns, ARF, extensive transfusions with citrated lood, and certain meds. |
| what syndromes can cause PTH to be overwhelmed due to severe acute hyperphosphatemia? | tumor lysis, ARF, rhabdomyolysis |
| what can overwhelm PTH, causing hypocalcemia? | acute pancreatitis, severe acute hyperphosphatemia, post-parathyroidectomy osteitis fibrosa |
| symptoms of MEN IIb/III | Medullary thyroid carcinoma that is more aggressive than that of IIa, pheochromocytoma, mucosal and GI neuromas, and Marfanoid features. |
| significance of substernal thyroid glands | must be distinguished from metastatic thyroid carcinomas and rarely may be the site of primary thyroid cancer. |
| how does TSH stimulate thyroglobulin synthesis? | by binding to TSH receptor on the thyroid follicular epithelium, which causes activation of G proteins and cAMP=mediated synthesis of thyroglobulin. |
| how do T3 and T4 act on their targets? | interact with thyroid hormone receptor to form a hormone-receptor complex that translocates to nucleus, binds thyroid response elements (TSEs) --> gene transcription. |
| What does free T4 reflect? | non-bound fraction of T4; thus is not affected by changing thyroid binding globulin levels. |
| What effect does increased TBG synthesis have on total serum T4? | increases it. Estrogen (pregnancy, OCP, hormone replacement) increases TBG. |
| what form of thyroid hormone is the more active form? | T3. Useful in pts w/ thyrotoxicosis |
| best overall screening test for thyroid function | TSH (not useful in pta w/ hypothyroidism due to pituitary or hypothalamic dz) |
| 3 most common causes of thyrotoxicosis | Graves disease (85%), hyperfunctional multinodular goiter, and hyperfunctional adenoma of the thyroid |
| cardiac effects of thyrotoxicosis | arrhythmia, CHF, cardiomegaly |
| symptoms of thyroid storm | severe hypermetabolism, fever, tachycardia, cardiac failure, obtundation, and coma. |
| what causes proptosis? | graves disease only (not other hyperthyroid conditions) |
| Dx of hyperthyroidism | Measure TSH and free T4 to confirm: low TSH, high T4. In pituitary-associated secondary hyperparathyroid, TSH is normal or increased. |
| How to dx secondary hyperthyroidism | TRH stimulation test. Normal rise in TSH after administration of TRH excludes secondary hyperthyroid |
| iodine uptake and hyperthyroid | diffusely increased: Graves disease. Increased uptake in a solitary gland: adenoma. Decreased uptake: thyroiditis |
| Meds used for hyperthyroidism | beta blockers to control adrenergic tone symptoms. Thionamide to block new hormone synthesis. Iodine solution to block release of thyroid hormone. Drugs that inhibit peripheral conversion of T4-> T3. Radioiodine --> ablates thyroid in 3-6 weeks |
| labs in primary hypothyroidism | TSH increased, T4 decreased |
| most common cause of autoimmune hypothyroidism | Hashimoto thyroiditis |
| what is thyroid hormone resistance syndrome? | a rare, autosomal dominant disorder caused by inherited mutations in the thyroid hormone receptor. |
| early manifestations of cretinism | poor feeding, constipation, failure to thrive, somnolence, coarse skin, husky cry. |
| what is myxedema? | hypothyroidism in adults. |
| what thyroid problem is carpal tunnel associated with | myxedema |
| agents that may cause infectious thyroiditis | S. aureus, streptococci, Salmonella, enterobacter, mycobacteria, and fungi. |
| gender ratio in Hashimoto's thyroiditis | 10-20:1 F:M |
| genetic associations w/ Hashimoto's thyroiditis | significant genetic component but non-Mendelian and likely multigene. Weak DR3 and DR5 association. |
| association of Hashimoto's thyroiditis with other diseases | SLE, Graves disease, RA, pernicious anemia, diabetes, lymphoma |
| histological Hashimoto's thyroiditis | symmetric or focal rubbery enlargement of the gland w/ intact capsule. Infiltration, germinal centers. Atrophic follicles with Hurthle cells: epithelial cells with abundant eosinophilic, granular cytoplasm. Fibrosis that does NOT extend beyond thyroid |
| clinical features of Hashimotos | progressive painless thyroid enlargement. Initially euthyroid, then slowly progressive hypothyroid |
| What is de Quervain's thyroiditis? | subacute granulomatous thyroiditis, an inflammatory d/o caused by viral infection or post-viral response (usually URI). Peak onset in summer |
| age and gender for de Quervain's thyroiditis | 30-50, female:male 3-5:1 |
| Pathology of de Quervain's thyroiditis | variable enlargement. Early: follicular disruption, neutrophilic infiltrates. Late: macrophages and multinucleate giant cells enveloping leaked colloid. |
| clinical features of de Quervain's thyroiditis. | May be sudden or gradual onset. Fever, painful enlargement of gland. Occasional transient elevation in T3 and T4. Self-limited course, usually 6-8 weeks, with normal return to function. |
| What is subacute lymphocytic thyroiditis? | Painless thyroiditis. An uncommon cause of hyperthyroidism |
| symptoms of painless thyroiditis | mild hyperthyroid, painless goitrous enlargement of thyroid. Usually develop over 1-2 weeks, lasts 2-8 weeks. |
| who tends to get painless thyroiditis? | middle aged adults, more often women during postpartum period. Autoimmune basis has been suggested. |
| What is Riedel thyroiditis? | a rare d/o of unknown etiology. Replacement of thyroid by dense fibrous tissue that extends into neck. Clinically simulates carcinoma (hard, fixed mass). May be associated w/ other idiopathic fibroses. |
| age and gender for Graves | 20-40, F:M 5-7:1 |
| genetic factors important in Grave's diseases | HLA-B8 and DR3, other autoimmune d/o associated |
| in whom does sporadic goiter tend to occur? | female predominance, peak in puberty or young adult life |
| clinical features of diffuse nontoxic goiter | gland enlargement. Most patients are euthyroid. |
| symptoms of multinodular goiter | mostly due to a mass effect and abnormality in thyroid function. Cosmetic deformity, esophageal compression w/ dysphagia, tracheal compression, obstruction of SVC (rare). Also thyroid hyperfunction symptoms (cardiac effects common but thyrotoxicosis in <5 |
| how to distinguish multinodular goiter from Graves' disease when it is associated with thyrotoxicosis? | lack of opthalmopathy, lack of dermopathy, and lesser degree of hypermetabolism. |
| lab findings in multinodular goiter | May be eu, hyper, or rarely hypothyroid. 2 patterns of radioactive iodine uptake; diffuse and patchy, or nodular. |
| how common are thyroid nodules | very (4-7% of adults, 1% kids). <5% become malignant. |
| how do thyroid neoplasms usually present in radioiodine studies? | cold (do not take up iodine). Except for some adenomas and a very rare carcinoma |
| factors that increase the probability of a thyroid nodule being malignant | solitary nodule, age <40, and male |
| clinical features of thyroid follicular adenoma | Solitary, discrete, and small. Sometimes presents w. hyperthyroidism. Hemorrhage into it may cause a rapid painful enlargement. |
| only true distinctive subtype of thyroid follicular adenoma | Hurthle cell adenoma |
| Morphological subtypes of thyroid carcinoma | Papillary (70-85%), follicular 10-20%, medullary C-cell 5%, and others |
| prognosis of papillary thyroid carcinoma | indolent growth,10 year survival is 70-80% despite high frequency of metastases. Extrathyroid extension, older patient worsen prognosis |
| most common thyroid carcinoma in kids | papillary (90% of kid thyroid tumors) |
| characteristic nuclear features of papillary thyroid carcinoma | ground-glass appearance, intranuclear pseudoinclusions, longitudinal grooving. |
| microscopic appearance of papillary thyroid carcinoma | Papillary, psammoma bodies, and thyroglobulin pos |
| clinical features of follicular thyroid carcinoma | More aggressive than papillary, mostly in middle aged women. Usually spreads hematogenously. 70% mortality at 5 years. Usually presents as slowly enlarging painless nodules. |
| clinical features of medullary thyroid carcinoma | elaborates calcitonin in 80-90% of cases, or other peptides. Can produce systemic symptoms (calcitonin --> diarrhea). 90% sporadic. Tends to present in 40s-50s. Sporadic worse than familial. |
| characteristics of familial medullary thyroid carcinoma | autosomal dominant, linked to ch10. tends to present in 2nd to 3rd decades. Associated w/ MEN 2a (Sipple's syndrome) and MEN 2b |
| microscopic appearance of medullary thyroid carcinoma | classic "neuroendocrine" cells or spindle shaped sarcomatoid cells. Extracellular amyloid. Membrane-bound secretory granules within tumor cells. In familial cases, there is C-cell hyperplasia. |
| peak incidence of anaplastic thyroid carcinoma | 7th and 8th decades. |
| characteristics of anaplastic thyroid carcinoma | rapidly growing. Usually associated with extensive local invasion. Few survivors beyond 1 year. 2 histological variants: small cell and giant cell types. |
| characteristics of thyroid lymphoma | May be Hodgkin or non-Hodgkin. If non-Hodgkin, usually B-cell lymphoma. Most often in women, peak 60-70 years. May be preceded by Hashimoto thyroiditis |
| What is the balanopreputial sulcus? | a cul-de-sac on the lateral and dorsal aspects of the penis behind the corona of the glans. |
| What are "Tyson's glands"? | smegma-producing glands found in the balanopreputial sulcus |
| by when is the prepuce usually fully retractable? | age 5 or 6 |
| what is phimosis? | prepuce opening is too small to permit its normal retraction. |
| what is paraphimosis? | caused by forcible retraction of a phimotic foreskin, causing non-reducible constriction behind the corona. |
| complications of paraphimosis | pain, acute urinary retention due to urethral constriction |
| incubation period of syphilis | 9-90 days |
| incubation period for HSV | 1-26 days, median 6-8 |
| LGV organism and incubation period | Chlamydia trachomatis subtypes L1,L2,L3, 3 day-6wk incubation |
| What is balanoposthitis? | A nonspecific infection of the glans and prepuce. Caused by many bacs and fungi (Candida). Usually secondary to poor hygiene in uncircumcised men. |
| What is Zoon's balanitis? | aka plasma cell balanitis. Of unknown etiology, occurring in uncircumcised males. A single large moist bright red patch on the glans or inner prepuce. |
| which HPV strains are most likely to cause warts | 6 and 11 |
| what is Bowen's disease? | Occurs in either sex at age >35. A thickened, gray-white plaque on shaft or scrotum, progressing to carcinom in 10%. May be related to visceral cancers. |
| What is erythroplpasia of Queyrat? | A red soft plaque on the glans and foreskin, usually uncircumcised men. 5-10% become carcinoma. |
| What is Bowenoid papulosis? | Occurs in younger men, with multiple pigmented red-brown papules on penis. Often verrucoid and could be mistaken for condyloma acuminatum. Almost never becomes invasive. |
| What is the giant condyloma of Buschke-Lowenstein? | A verrucous carcinoma with intermediate malignant potential of the penis. Associated with HPV 6 and 11. Locally invasive and recurrent but NEVER metastasizes. |
| usual age for penile squamous cell carcinoma | 40-70 |
| symptoms of penile squamous cell carcinoma | Nonpainful until it uclerates. |
| risk factors of penile squamous cell carcinoma | risk factors include noncircumcision, poor hygiene, phimosis, and smoking. HPV in >40%, types 16 and 25. |
| mode of spread of penile squamous cell carcinoma | slow growing with only local metastasis until late. Goes to ingunial and iliac lymph nodes. Rare hematogenous spread to liver, lung, bone. |
| What is Fournier's gangrene? | A life-threatening scrotal gangrene due to staph or strep, occurring in diabetics, alcoholics, or the immunocompromised. Red necrotic plaques with cellulitis and ulceration. Acts like a clostridial gas gangrene. |
| What causes scrotal squamous carcinoma? | 1st cancer to be linked to occupational exposure: chimney sweeps, cotton factory workers exposed to soot and dust with 3,4-benzpyrene. Also tar, shale oil, paraffin, petroleum wax. |
| is the prostate encapsulated? | not distinctly |
| peripheral zone of prostate | 70%. 80% of prostate carcinomas originate here. |
| transitional zone of prostate? | 5%. where BPH arises. 10-20% of prostate carcinoma. |
| central zone of prostate | 25% of prostate. 5% of prostate carcinoma |
| symptoms of acute bacterial prostatitis | fever, chills, dysuria with a boggy tender prostate. |
| causes of acute bacterial prostatitis | Usually caused by UTI organisms (direct extension), or lymphatic or hematogenous spread, surgery, etc |
| symptoms of chronic bacterial prostatitis | low back or perineal pain, dysuria, or asymptomatic |
| most common cause of relapsing UTI in men | chronic bacterial prostatitis |
| most common form of prostatitis | chronic abacterial prostatitis |
| symptoms of chronic abacterial prostatitis | manifestations mimic chronic bacterial prostatitis but has no history of recurrent UTI. Usually sexually active. Secretions have >10WBCs/field neg culture. Possible agents include Chlamydia, etc |
| what usually causes granulomatous prostatitis | secondary to foreign body rxn to extravasated prostatic secretions |
| Usual causes of tuberculous prostatitis | Usually associated with TB in other parts of the GU tract. Can follow bacillus Calmette-Guerin (BCG) immunotherapy for superficial transitional cell carcinoma of the bladder |
| racial skew of BPH | blacks affected 10 years earlier than whites |
| histology of BPH | dilated, large complex glands with increased glands, stromal nodules |
| racial skew of prostate adenocarcinoma | blacks>whites>asians |
| total PSA levels and their meaning | Nonspecific -- can be elevated in cancer, BPH, or inflammation. >4 ng/ml: suspicious of cancer. 4-10 ng/ml: 30% chance of cancer. >10: 55% chance of cancer |
| free PSA levels and cancer | <7% free PSA: probably cancer. >23%, probably BPH or whatever |
| causes of cryptorchidism | Mechanical problems, genetic abnormalities (T13 etc), musculoskeletal d/o, hormonal abnormalities (LHRH deficiency) |
| how common is bilateral cryptorchidism | 25% of cases |
| histological changes associated with cryptorchidism | Can occur as early as age 2 and can also occur in the normal testis. Decreased germ cell development, thickened, hyalinized, narrow semniferous tubules, interstitial fibrosis, and Leydig cell hyperplasia |
| clinical associations with cryptorchidism | high prevalence of inguinal hernia, sterility (20-75% of the undescended testes and sometimes the opposite one too), 10-40x increased risk of cancer |
| genetic causes of testicular atrophy | Klinefelters |
| secondary causes of testicular atrophy | Cryptorchidism, vascular dz, inflammatory dz, hypopituitarism, malnutrition, semen outflow obstruction, elevated levels of female sex hormones, radiation, and chemotherapy |
| common causes of testicular infection | In pediatrics, gram neg rods (associated w/ GU malformations). Sexually active young men: chlamydia, gonorrhea. Men>35, E. coli and pseudomonas |
| 2 types of granulomatous orchitis | Moderately tender, sudden onset mass, sometimes with fever. Also, painless mass mimicking tumor. |
| How can you distinguish tuberculous orchitis from granulomatous orchitis | Granulomatous orchitis has plasma cells and occasional PMNs |
| symptoms of TB orchitis | usually begins in epidydimis with testes involved secondarily. Granulomatous inflammation with caseous necrosis. Later stages: progressive fibrosis and calcification |
| causes of testicular torsion | associated with pre-existing structural lesions: incomplete descent, absence of scrotal ligaments, and testicular atrophy |
| symptoms of testicular torsion | Arteries generally remain patent (not veins). Infarct can occur and be either hemorrhagic or anemic. |
| symptoms and causes of testicular hydrocele | Caused by trauma or tumor. Clear serous fluid accumulates between visceral tunica and parietal tunica |
| peak incidence of testicular germ cell tumor | between 15 and 34 |
| chromosomal abnormalities in many testicular germ cell tumors | isochromosome 12p |
| most common type of testicular germ cell tumor | seminoma (50%) |
| peak incidence of seminoma | 30s(4th dec) |
| prognosis of seminoma | 95% of early stage can be cured easily |
| appearance of seminomas | large cells with clear cytoplasma, distinct cell membranes, septated architecture, septal lymphocytic infiltrates, and granulomas |
| how common is spermatocytic seminoma | rare. (patients are usually >65) |
| is spermatocytic seminoma associated w/ cryptorchidism or ITGCN | no |
| growth of spermatocytic seminoma | indolent and non-metastasizing. larger than classical seminoma |
| appearance of spermatocytic seminoma | smaller cells resemble secondary spermatocytes in addition to larger seminoma-like cells |
| characteristics of embryonal carcinoma | Non-seminomatous, usually in age 20-30 year old age group. Usually part of mixed germ cell tumor, rarely pure. Primitive appearing pleomorphic cells w/ indistinct cell borders, hyperchromatic nuclei, prominent nucleoli. some have hCG elevations |
| prognosis of testicular embryonal carcinoma | aggressive but 80-90% survival |
| characteristics of yolk sac (endodermal sinus) tumor | Most common testicular tumor in infants and kids under 2, rare in adults (worse prognosis). Can have globules with AFP and alpha-1-antitrypsin (Schillver-Duval bodies, look like glomeruli) |
| characteristics of choriocarcinoma | highly malignant, both cytotrophoblast and syncytiotrophoblast elements. Pure form is rare in testis, usually part of a mixed germ cell tumor. |
| Appearance of choriocarcinoma | polygonal cytotrophoblastic cells growing in sheets and cords mixed with multinucleated syncytiotrophoblasts, similar to chorionic villi |
| what do choriocarcinomas produce? | hCG |
| clinical features of germ cell tumors | usually painless enlargement of testis. Metastasizes lymphatic -- retroperitoneal peri-aortic nodes, or hematogenous: lung most common. |
| peak occurrence of Leydig interstitial cell tumor | mostly between age 20-60 |
| clinical manifestations of Leydig cell tumors | testicular mass, hormonal abnormalities: gynecomastia, sexual precocity. 10% invade or metastasize. Commonly contains lipochrome pigment, lipid droplets, Reinke crystalloids |
| in whom is testicular lymphoma most common? | >60 years |
| most common testicular lymphoma | diffuse large cell lymphoma |
| amnion vs chorion | amnion: inner epithelium-lined membrane. Chorion: outer membrane, no epithelium |
| what is placenta accreta | decidua basalis is absent and villi extend into the myometrium |
| what is a Battledore umbilicus? | marginal insertion, 1:5 placentas, usually not a problem |
| what is velamentous insertion | umbilical cord inserts into membranes and can cause a bleeding hazard at delivery. 1:100 placentas. |
| what is placenta extrachorialis | membrane inserts onto the fetal surface of the placenta rather than the margins, which may be associated with an increased risk of IUGR |
| what is amnion nodosum | squamous cell aggregates on the amniotic surface derived from the vernix caseosa. associated with oligohydramnios |
| what is funisitis? | inflammation of umbilical cord, may accompany chorioamnionitis |
| symptoms of placental infection of syphilis | large and bulky placenta w/ plasma cell infiltrate, endovasculitis, and spirochetes |
| symptoms of pre-eclampsia | hypertension, edema, proteinuria |
| what can pre-eclampsia cause | placental infarct, syncytiotrophoblast proliferation, thickened basement membranes, fibrinoid necrosis of the decidual vessels, and IUGR (essential hypertension can cause these too) |
| what does DM cause in fetus? | large fetus w/ large placenta with infarcts and calcification. May have polyhydramnios |
| frequency of twinning | 1/80 pregnancies. 1/3 are monozygotic |
| zygosity of Monoamniotic-monochorionic (Mo-Mo) twins | monozygotic |
| zygosity of diamniotic-monochorionic (Di-Mo) twins | always monozygotic |
| zygosity of Diamniotic-Dichorionic (Di-Di) twins | 1/3 mono, 2/3 di |
| size and age of embryo | up to 8 wks, <30mm in crown-rump length |
| embryonic phase of lung development | wks 3-6: formation of segmental airways |
| pseudoglandular stage of lung development | wks 6-16. Bronchial development proceeds. Epithelial tubules in poorly vascular mesenchyme |
| Canalicular stage of lung development | wks 16-24: mesenchyme gets vascularized. spaces are saccular w/ thick septae. 2 epithelial cell types differentiate |
| Terminal sac stae of lung development | 24+ |
| how long does the nephrogenic zone of the kidney persist | wk 37 |
| which glomeruli are the oldest developmentally | juxtamedullary |
| how long does the cellular subependyma of the brain last in development | 36-37. soft matrix is susceptible to anoxia and hemorrhage |
| how long does liver hematopoiesis last? | until 37 weeks and may persist to 10-14 days after birth |
| development of lymphoreticular tissue in the fetus | Primary follicles form at 24 weeks, and develop for another 16 weeks. Germinal centers appear 4-6 weeks after birth. |
| Development of adrenals in the fetus | at 24 wks gestation, adrenal:body weight ratio is at peak. Thin adult cortex surrounds a prominent fetal cortex which involutes after birth |
| full term gestation weight, length, and chronology | 40 weeks, or 280-284 days (38-43 weeks). 48 cm. Weight: 3400g for white male, female 3200g. black babies 200g less |
| definition of prematurity | <37 weeks, <2500g. Babies <26 weeks are only marginally viable. |
| incidence of prematurity | 6.5% of singletons and 7.5% of all births |
| symptoms of galactosemia | In infancy: vomiting, diarrhea, liver dz, jaundice, cataracts, MR, FTT, death |
| tx of galactosemia, | eliminate from diet, give soy formula, supplemental Ca. Fairly good outcome |
| classic galactosemia | galactose-1-P-uridyl transferase absence |
| What is Duarte variant of galactosemia | 50% activity, more common than classic galactosemia. Less common, can take off diet after 18-24 mo |
| what are the symptoms of galactokinase deficiency | cataracts, galactose in urine, and usually that's it |
| what is epimerase deficiency? | a non-disease in galactose metabolism. Seen in 1/23000 in Japan |
| symptoms of fructose metabolism disorders | poor feeding, vomiting, liver and renal damage |
| tx of fructose disorders | frequent feeds, avoid fructose |
| symptoms of fructose kinase deficiency | benign fructosuria |
| symptoms of aldolase B deficiency (hereditary fructose intolerance (HFI) | Hypoglycemia and vomiting. On Ch19q |
| symptoms of Fructose-1-6bisphosphatase deficiency | apnea, hypoglycemia, ketosis, acidosis, vomiting |
| 2 forms of glycogen storage disorders | hepatic form: hypoglycemia, lactic acidosis, hepatomegaly, and short stature. Muscle form: muscle pain, weakness, cramps, myoglobinuria, hypotonia, cardiomegaly |
| Type 1a glycogen storage disorder | von Gierke's disease, G-6-Phosphatase deficiency |
| symptoms of von Gierke's disease | hepatomegaly, hypoglycemia, short, delayed puberty, hepatic adenomas, can be malignant. Cherub cheeks with vascular pattern |
| Type 1b glycogen storage disorder | G6P microsomal translocase deficiency |
| symptoms of type 1b glycogen storage disorder | same as 1a but can also get infections secondary to neutropenia |
| Type III glycogen storage disorder | debranching enzyme deficiency |
| symptoms of type III glycogen storage disorder | hepatomegaly, hypoglycemia (but not as bad as type I glycogen storage d/o), short, mild muscle weakness, elevated liver enzymes |
| tx of type III glycogen storage d/o | usually don't need to restrict simple sugars |
| Type VI glycogen storage d/o | liver phosphorylase system deficiencies |
| symptoms of type VI glycogen storage d/o | hepatomegaly,short stature, hypoglycemia, variable hyperlipidemia. Usually a MILD disease w/ nohyperlactic acidemia. at least one gene is on X chromosome |
| treatment of hepatic forms of glycogen storage d/o | frequent feeds, avoid simple sugars, give corn starch for slow release of glucose, give babies continuous drip feeds at night |
| Type V glycogen storage d/o | McArdle's disease. muscle phosphorylase deficiency that causes muscle pain and cramps |
| Type VII glycogen storage d/o | muscle phosphofructokinase deficiency. symptoms: muscle cramps and pain |
| Treatment of muscle forms of glycogen storage diseases | give glucose and fructose prior to exercise and avoid exercise |
| Type IV glycogen storage disease | Andersen disease, a liver and muscle form of glycogen storage d/o. Branching enzyme deficiency, resulting in long glucose chains. |
| symptoms and prognosis of Andersen disease | very rare, worst prognosis of all glycogen storage diseases. Muscle weakness, liver cirrhosis/failure, death, but NO HYPOGLYCEMIA. Only tx is liver transplant |
| Type II glycogen storage d/o | Pompe's disease, actually a lysosomal d/o (alpha glucosidase). Enlarged heart and tongue. No therapy. |
| What is Hurler Syndrome? | MPS 1 H (a mucopolysaccharidosis). Alpha-L-iduronidasedeficiency. AR, severe. |
| symptoms of Hurler syndrome | Appears normal at birth, usually dx between 6-24 mo. May have umbilical or inguinal hernias. Coarsening of features w/ full lips, flared nostrils, flat nose, HSM, prominent forehead, gum hypertrophy, hirsutism, stiff joints, MR, hydrocephalus, deaf, |
| Natural history of Hurler syndrome | rapid initial growth followed by frequent respiratory infections with decrease in motor milestones and death in 8-10 years |
| What is Scheie syndrome | MPS1S, a mucopolysaccharidosis. An alpha-L-iduronidase deficiency that is less severe than Hurlers (some enzyme made) |
| symptoms of Scheie syndrome | broad mouth and lips, with normal IQ, broad short hands and feet. Hirsute, hearing problems, cloudy corneas, aortic valve infiltration. Claw hand and joint contractures. usually dx at 10-20 years, normal life span, main problems are vision and joints |
| MPS I H/S syndrome | Hurler-Sheie. AR, ch4. dermatan and chondroitin sulfate spill into urine. death from deposits in heart and lungs. |
| MPS II | Hunter syndrome (iduronate sulfatase deficiency, XLR) |
| symptoms of MPS II (Hunter syndrome) | urinary dermatan and heparan sulfate. Slow growth, coarse features, macrocephaly, joint contractures, dysostosis multiplex, HSM, inguinal hernias, progressive deafness at age 2-3. hoarse voice, heart failure |
| prognosis of Hunter syndrome | In severe form: mental and neurological deterioration between ages 2 and 5. MR, spasticity, early death. Mild: mild MR to normal IQ, may have hydrocephalus, normal life span |
| how to distinguish Hurler's syndrome from Hunter's syndrome | Hunter's has clear corneas, more gradual onset. No affected females. Less severe gibbus |
| MPS III | aka Sanfilippo Syndrome. Neurological rather than somatic deficits -- can live 30-40 years. AR, due to defects in heparan sulfate degradation. |
| symptoms of Sanfilippo syndrome | healthy until 2-6 years, followed by hyperactivity, aggressiveness, MR, coarse features, hirsutism, problems sleeping. May have HSM, normal-short stature, mild joint stiffness, claw hand, mitral regurg |
| natural history of Sanfilippo syndrome | deterioration of gait, speech, behavior, and seizures. Severe hearing loss, cortical atrophy and dementia, resulting in a vegetative stage. CHF or pneumonia is cause of death. |
| What is MPS IV | aka Morquio Syndrome, an AR disorder caused by galactose-6-sulfatase deficiency (type A, severe, die by age 20) or beta-glucosidase deficiency (type B, a mild later onset type on ch3) |
| phenotypes of MPS IV | short trunked dwarfism with cloudy corneas and joint laxity. can become quadriplegic. mild coarsening of features, broad mouth, wide teeth with bad enamel,mitral valve problems, inguinal hernias, deafness, HSM, frequent URIs, keratan sulfate in urine |
| MPS VI symptoms | Maroteaux-Lamy syndrome. skeletal abnormalities, cloudy cornea, and normal IQ. deceleration of growth at 2-3. Coarse features, some joint stiffness, dysostosis, kyphosis, corneal opacity, hernia, wide spaced teeth, HSM, deaf, heart valve involvement. |
| forms of MPS VI | severe form: rapid physical deterioration, early death. Mild: can live 2-3 decades. |
| what cause MPS VI | N-acetylgalactosamine deficiency. AR, 5q11. |
| MPS VII | Sly syndrome, due to beta-glucuronidase deficiency. AR, ch7. extremely rare. |
| symptoms of MPS VII | dysostosis multiplex, HSM. Moderate to severe MR, coarse features, corneal clouding, gibbus, flaring of lower ribs, oar like ribs, hernia, hydrops fetalis. Excrete dermatan, heparan, and chondroitin sulfate. |
| What are GM2 gangliosidoses | lysosomal storage diseases that primarily affect the brain. |
| Tay Sachs vs Sandhoff disease | Tay Sachs = hexosaminidase A, on ch 15. Sandhoff = hexosaminidase B, ch5 |
| symptoms of GM2 gangliosidoses | motor weakness starting ~3-5mo, w/ increased startle, hypotonia, poor head control, decreased attentiveness, and rapid deterioration after 10-12mo. Cherry red spot in macula in Tay Sachs, and organomegaly/bony involvement in Sandhoff |
| what is activator protein deficiency | a GM2 gangliosidosis, on ch5 |
| cause and symptoms of GM1 gangliosidoses | Beta-galactosidase deficiency, simmilar to Tay Sachs with death by age 2. Additional phenotype: Morquio syndrome type B. Can have infantile, juvenile, and adult forms and must distinguish from Krabbe disease (cerebroside beta-galactosidase def) |
| What is Fabry disease? | a rare alpha-galactosidase deficiency. X linked: males severe, females mild. |
| symptoms of Fabry disease? | neuropathy, pain, paresthesias in extremities, angiokeratomas on skin and membranes, cloudy corneas, decreased sweating, renal and heart failure |
| Tx of Fabry disease | diphenylhydantoin for peripheral neuropathy, enzyme replacement, dialysis, treatment. |
| cause of metachromatic leukodystrophy | arylsulfatase A deficiency, or normal arylsulfatase A but defective activator protein |
| symptoms of metachromatic leukodystrophy | A white matter disease of the brain with no seizures but regression, deterioration, and blindness with elevated CSF protein and decreased nerve conduction. Urinary sulfatide excretion. Onset can be from birth to adulthood. No tx |
| what causes Krabbe disease? | Galactosylceramide beta-galactosidase deficiency. A classical early infantile lysosomal leukodystrophy |
| symptoms of Krabbe disease | beginning in 1st 6 mo of life. Later, become hypotonic, and severe mental and motor deterioration. Increased CSF protein, death by age 2 |
| Cause of Gaucher disease | beta-glucosidase deficiency with increased frequency of Ashkenazis.The most common lysosomal storage disorders |
| Type I Gaucher disease | Non-neuropathic (does not involve brain). Ashkenazi.Painless splenomegaly, decreased platelets, anemia, leukopenia, bone involvement |
| Type II Gaucher disease | acute infantile form. Severe brain d/o w/ HSM. Die by age 2 |
| Type III Gaucher disease | juvenile, subacute Norbottnian form. Similar to type II but later onset |
| symptoms of Type A Niemann-Pick disease | Onset in infancy. FTT, HSM, rapidly progressive neurodegeneration and death by age 2 or 3 |
| Type B Niemann-Pick disease | dx in childhood secondary to HSM. little or no neural involvement. Can survive into adulthood and may have progressive pulmonary infiltration |
| Type C Niemann Pick disease | onset in late childhood. Progressive neurological disease (opthalmoplegia, ataxia, dystonia, dementia) and variable HSM. Death in teens |
| enzyme deficiency in types A and B Niemann Pick | acid sphingomyelinase deficiency by enzyme assay. Positive sea blue histiocytes of foam cels in bone marrow and many tissues |
| abnormality in Type C Niemann Pick | abnormal lysosomal accumulations of LDL, but normal enzyme activity |
| Susceptibility of the developing embryo to anoxia | In the early phase (days 1-14), the embryo is resistant, but is more susceptible in the later embryonic period (14-56 days) when it may cause malformation or death |
| why is the fetus tolerant of anoxia from mid-gestation to shortly after birth? | Because the vascular shunts preserve the brain and heart (dive reflex), and the thick media of the pulmonary small muscular arteries increases pulmonary resistance. Hypoxia increases pulm. arterial tone by inducing arterial constriction. |
| how long does it take for hyaline membrane disease to appear after birth? | 4 hours |
| How long does it take for alveolar lining cells to regenerate and to get macrophages proliferating on the membranes in hyaline membrane dz? | 24H |
| appearance of bronchopulmonary dysplasia | Necrosis of respiratory epithelium and proliferation and degeneration of alveolar epithelial cells, with fibroblastic proliferation in the septae. |
| Too-high O2 or ventilatory pressures cause | Bronchopulmonary dysplasia and retrolental fibrodysplasia |
| why are babies with HMD prone to pneumothorax or interstitial emphysema? | because expansion of lung may cause overdistention of the proximal airway. |
| by when does surfactant normally appear? | 28 weeks |
| pathogenesis of necrotizing enterocolapathy (NEC) | diminished perfusion of gut due to dive reflex causes decreased mucous production, exposing the gut mucosa to enzymatic destruction and bacterial invasion |
| usual anatomy of NEC | A diffuse or patchy necrosis of the mucosa or submucosa of the small or large bowel. Usually spares the duodenum. Affects solitary segments of gut and has 2+ circumferential bands of congestion around gangrenous areas. Perforations near ileocecal valve |
| Microscopic appearance of NEC | initial coagulation necrosis with little inflammation which may be hard to distinguish from autolysis. Fibrin covers the serosa near a perforation. DIC accompanies necrosis. Transmural inflammation |
| healing of NEC | epithelialization by 3 days, fibroblastic proliferation and granulation tissue by 8-9 days, and submucosal fibrosis by 6 mo |
| Natural history of NEC | mucosal ulcer --> submucosal hemorrhage --> pseudomembrane --> perforation --> pneumatosis intestinalis |
| what causes germinal matrix hemorrhages? | aka intraventricular hemorrhages, usually only in small preemies. The terminal veins of the subependymal germinal matrix are susceptible to anoxia and may rupture. It is associated w/ RDS but the mechanism is unknown |
| What is periventricular leukomalacia? | Hypoxemic-ischemic effect on periventricular white matter --> coagulative, then liquefactive necrosis. Affects both preemies and anoxic full-terms |
| What causes hyperbilirubinemia in the newborn period | Physiologic jaundice at 3-4 days is normal but pathologic jaundice appears on 1st day due to excessive blood destruction (erythroblastosis, infection). Pregnanediol in mother's milk inhibits conjugation |
| what is kernicterus? | bile staining of selective parts of CNS grey matter |
| when does the lung bud appear? | during 4th week (respiratory anlage separates from foregut) |
| what is the saccular period? | weeks 28-34. surfactant appears, shallow distal air spaces form, and respiratory maintenance is possible |
| what is alveolar period | 34 weeks gestation --> 18-24 mo after birth |
| what usually causes unilateral lung hypoplasia? | compression due to diaphragmatic hernia or mediastinal lymphangioma, etc. |
| what usually accompanies bilateral lung hypoplasia | oligohydramnios, due to renal aplasia, urinary obstruction etc |
| characteristics of bronchial distribution anomalies | frequently part of cardiovascular malformation syndromes but don't usually cause problems |
| what is an accessory lung? | a pulmonary sequestration in which a segment is connected to the tracheobronchial tree but supplied by a systemic artery. Bronchial connection is to foregut |
| What is an extralobar sequestration? | mass of lung tissue separated from the main lung, usually on the L side anywhere from the diaphragm to the thoracic inlet. Usually has a systemic arterial supply with venous drainage to the azygous or portal system. Frequently other malformations |
| What is an intralobar sequestration | No communication with trachea or bronchii, and systemic blood supply. Usually in posterior basal lung and may be either cystic or solid. There is no cleavage plane between the sequestration and the rest of the lung, and it is susceptible to inflammation |
| Where are bronchogenic cysts found? | anywhere in the mediastinum |
| what is lymphangiectasis? | multiple small cystic spaces throughout the lung, in pleura and septa. May accompany other diseases like HMD |
| 3 types of lymphangiectasis. | According to cause: obstruction to pulmonary venous return, idiopathic localized to lung, and idiopathic: pulmonary and systemic |
| What is cyst adenomatoid formation in the lung | usually unilateral, 1 lobe only. Many small cystic spaces w/ mucinous, gastric-like epithelium. Often have malformations of kidney and heart. Usually in preemies, frequently fatal |
| features of congenital lobar emphysema | Usually affects only 1 lobe. Hyperaeration rather than true emphysema -- the alveolar septae remain intact. The bronchus collapses, allowing inflation but not deflation. The bronchus has defectiv cartilage rings and abnormal blood vessels |
| racial and gender skews of HMD | boys>girls, whites>blacks |
| features of renal pelvis/ureter duplications | common, 80% unilateral. may be asymptomatic, but obstruction may cause hydroureter, hydronephrosis, and a susceptibility to pyelonephritis |
| usual manifestations of ureteral valves | not really valves, but kinks in a dilated ureter. Uretopelvic obstruction may be present at birth accompanied by giant hydronephrosis and hydroureter, sometimes with atrophy of renal cortex |
| features of vesicoureteral reflux | common and serious anomaly and an important contributor to pyelonephritis |
| features of bladder exstrophy | 1/30,000 births, M:F 2:1. accompanied by diastases of the pubic symphysis and epispadias. susceptible to infection and trauma. causes changes in the bladder mucosa |
| what are posterior urethral valves? | found in boys at verumontanum. One way obstruction -- can pass probe but not urine. Causes dilatation and hypertrophy of bladd, bilateral hydroureter, and hydronephrosis. In fetal life, may cause oligohydramnios, pulmonary hypoplasia --> death. r |
| prognosis of posterior urethral valves | may not survive more than a few days, but renal failure develops if they survive the neonatal period |
| features of Potter's syndrome | bilateral renal agenesis. Potter's facies: wide set eyes, beak nose, micrognathia, low ears with deformed cartilage, oligohydramnios, amnion nodosum, pulmonary hypoplasia, and malformed legs |
| What is oligomeganephronia? | aka Doll's kidney: small kidney with a reduced number of pyramids (normal 10-14) but with hyperplastic residual glomeruli |
| where is simple ectopic kidney usually found? | usually a pelvic kidney at the rim of the true pelvis. Susceptible to congenital and acquired dz |
| what is the most common form of cystic renal disease in childhood? | cystic renal dysplasia (failure of the differentiation of nephrogenic mesenchyme) |
| is bilateral renal cystic dysplasia compatible with life? | no |
| symptoms of unilateral renal cystic dysplasia? | may be asymptomatic except for cyst |
| microscopic appearance of renal cystic dysplasia | immature ducts, primitive tubules, non-inflammatory mesenchymal connective tissue, and cartilage islands |
| inheritance of renal cystic dysplasia | not considered familial but may be part of familial teratologic syndromes |
| most severe form of ADPKD | PKD1,ch16 deletion (PKD2 has a ch4 deletion) |
| clinical manifestations of ADPKD | relatively common and becomes apparent by age 40. Hematuria, pain, and renal failure. Only rarely occurs in kids. |
| Morphology of ADPKD | corticaland medullary cysts from all portions of nephron. Present in liver in 1/3 of cases, may also be in pancreas and spleen. Berry aneurysm in 1/6 |
| Clinical manifestations of Autosomal recessive/infantile polycystic kidney disease | Rare, always bilateral, more frequently fatal early in life. Enlarged kidney, many small cysts from COLLECTING DUCTS. associated with hepatic fibrosis, bile duct proliferation and dilatation. 3 forms: newborn, infantile, and juvenile |
| newborn vs juvenile forms of autosomal recessive polycystic kidney disease | renal disease is more severe in the newborn period and liver disease is more severe in the juvenile form |
| What is non-uremic medullary cystic disease? | aka sponge kidney -- multiple cystic dilatations of the collecting duct in the medulla of the kidney, usually bilateral. Normal renal function and occurs in adults. Calculi are common. Idiopathic |
| What is uremic medullary cystic disease? | aka uremic sponge kidney. Usual onset in childhood, causing relentless progressive renal failure with polyuria, polydipsia, tubular acidosis, and renal failure. cysts are mainly in the corticomedullary junction and small |
| what is microcystic disease with nephrotic syndrome? | a rare disease seen in kids with infantile nephrotic syndrome. Unknown transmission -- perhaps maternal antitubular antibodies. Cysts are in glomeruli, not nephrons, so not a true cystic disease. |
| describe foramen primum | an ASD in the caudal part of the septum, always associated with a mitral valve defect. An endocardial cushion defect. NEVER competent, always allows shunting. |
| functional abnormality in ASDs | L->R shunt (R->L only in increased right heart pressure). R ventricular hypertrophy, pulmonary artery sclerosis (after many years), and paradoxical embolism |
| are VSDs cyanotic | no |
| which type of VSD is associated with the tetralogy of Fallot | between the crista and the papillary muscle of the conus |
| where are supracristal VSDs found and what are they associated with? | immediately inferior to pulmonary artery.May be associated with a truncus arteriosus or may be isolated |
| functional disturbance and complications associated with VSDs | L->R shunt with increased pulmonary arterial flow at increased pressure. Pulmonary arteriosclerosis and hypertension develop early. CHF is a major cause of death |
| what is single ventricle associated with? | transposition of the great arteries |
| is tetralogy of fallot cyanotic? | yes |
| 4 things about tetralogy of fallot | Dextraposed aorta (appears to arise from R ventricle), infracristal VSD, pulmonary vave stenosis, and R ventricular hypertrophy |
| functional effects and complications of tetralogy of fallot | high RV pressure, but low pressure in the pulmonary artery. Decreased pulmonary blood flow and dilated bronchial arteries. a R-L shunt (cyanosis). cerebral thrombi and abscesses |
| valve continuity in transposition of the great vessels | fibrous continuity between MV and PV as opposed to normal continuity between MV and AV |
| truncus arteriosus | functionally similar to VSD but there is cyanosis. supracristal VSD associaed. ductus arteriosus usually does not develop. L->R shunt with increased pulmonary blood flow and pulmonary hypertension, O2 desat. Poor prognosis without surgery |
| what is associated with tricuspid valve atresia? | all have an ASD, many have transposition |
| what is Ebstein's malformation | downward displacement of the origin of the tricuspid valve, with atrialization of the R ventricle |
| anatomy and complications of pulmonary valve stenosis | may survive to adulthood. Dome shaped fibrous funnel into a dilated pulmonary artery. Complications include CHF and cerebral abscess |
| sequelae of aortic valve atresia | hypoplastic left ventricle, similar to mitral valve atresia |
| what happens if coronary arteries arise from the pulmonary artery? | may be normal for a few weeks before development of angina and MI |
| what does a fistula between a coronary artery and the R ventricle cause? | either a R->L or L->R shunt |
| when does the ductus arteriosus usually close | 2 wks |
| what does the ductus arteriosus develop from? | L 6th aortic arch |
| functional complications of PDA | L->R shunt w/ LV hypertrophy. (pulmonary hypertension may cause a R-L shunt). May complication preemie respiratory distress |
| what is aortic arch tubular hypoplasia? | small aortic artch and isthmus due to diminished flow. Always accompanied by a large ductus arteriosus |
| what aortic arches are involved in a coarctated aorta | 4th aortic arch and L 6th aortic arch |
| what is associated with interruption of the aortic arch | always a ductus, may be a VSD too. interruption may be proximal to the L carotidor proximal or distal to the L subclavian |
| complication of double aortic arch | may surround and obstruct the trachea and esophagus |
| retroesophageal subclavian artery symptoms | usually none |
| what happens if there is an anomalous connection between the L SVC and the coronary sinus> | no effect |
| What is a partial anomalous pulmonary venous drainage | veins from one lung drain to the R atrium |
| total anomalous pulmonary venous drainage: supradiaphragmatic vs infradiaphragatic | Supradiaphragmatic: pulmonary veins drain to SVC, coronary sinus, or directly to R atrium. Infradiaphragmatic: pulmonary veins drain to IVC or portal vein |
| associations with supradiaphragmatic total anomalous pulmonary venous drainage | always have an ASD and a small L ventricle |
| what obstructs venous return to the R atrium in infradiaphragmatic anomalous pulmonary venous drainage | resistance of the hepatic sinusoids |
| is venous return to the R atrium often obstructed by venous stenosis in supradiaphragmatic total anomalous pulmonary venous drainage? | only rarely |
| what may appear in the female as Wolffian duct remnants? | inclusions in the ovarian hilus, and lateral walls of vagina at Gartner's cyst |
| what kind of epithelium lines Bartholin's glands? | transitional epithelium |
| fallopian tube mucosa | papillary folds with 3 cell types: ciliated columnar, non-ciliated columnar, and intercalated |
| what is a Bartholin's cyst? | infected bartholin's gland, often gonorrhea |
| which HPV types are associated with Vulvar Intra-epitheial Neoplasia (VIN)? | 16 mostly but also 18 |
| what is the most common carcinoma of the vulva? | squamous cell carcinoma -- most common after 60 but getting more common in younger pts |
| most common malignancy of the vagina? | squamous cell carcinoma |
| peak age and location for vaginal squamous carcinoma | 60-70, in posterior upper vagina |
| who tends to get clear cell carcinoma of the vagina? | DES babies almost exclusively |
| symptoms of embryonal rhabdomyosarcoma (Sarcoma botryoides) | an uncommon vaginal cancer seen more often in babies and kids <5. Polypoid masses that may fill and project out of the vagina with the consistency of grape like clusters |
| acute cervicitis vs chronic cervicitis | Acute: neutrophilic infiltrate, due to staph or strep usually. Chronic cervicitis: lymphocytic infiltrate, often associated with Nabothian cysts due to infammatory stenosis of cervical glands |
| what is follicular cervicitis? | a chronic cervicitis in which inflammatory cells form lymphoid follicles, often associated with chlamydia |
| what is the E6 oncoprotein of HPV 16 and 18 | binds p53 tumor suppressor gene and accelerates its degradation |
| what does E7 oncoprotein of HPV 16 and 18 do | binds RB gene, displacing transcription factors that RB normally sequesters |
| where is CIN most common? | more common on anterior lip of cervix and often involves endocervical glands |
| what is the Schiller test? | for CIN. Iodine + potassium iodide: fails to stain dysplastic epithelium b/c there is no glycogen there |
| What is microinvasive squamous cell carcinoma | an early stage of cervical cancer with invasion to <3mm below the basement membrane, with lack of vascular or lymph node invasion/metas. Can cure w/ hysterectomy |
| peak incidence of invasive squamous cell cervical carcinoma | 40s |
| 3 patterns of cervical carcinoma | Fungating, ulcerative, and infiltrative |
| what usually causes acute endometritis? | associated with delivery or abortion, uncommon otherwise. hemolytic Strep, anaerobic Strep, Staph, and Clostridium welchii |
| What can cause chronic endometritis | abortion, PID, IUD, and recent pregnancy. gonorrhea, chlamydia |
| how to dx chronic endometritis | identification of plasma cells |
| specific types of chronic endometritis | Mycoplasma (usually via sexual contact) and ureaplasma urealyticum, and TB |
| what is the most common cause of DUB? | anovulatory cycles in which endometrium grows but never enters the secretory phase due to estrogen withdrawal. More often at menarche or menopause |
| what is Luteal Phase Defect (LPD)? | when the corpus luteum fails to develop correctly or regresses prematurely, causing menses to occur 6-9 days after ovulation. Often manifests as infertility. Endometrium lags >2 days from the expected day of the cycle. |
| when are endometrial polyps most common? | in the 40s and 50s |
| most common presentation and location of endometrial polyps | most often in the fundus, and present as abnormal bleeding. May be either sessile or pedunculated and single or multiple. |
| 3 broad morphologic groups of endometrial polyps | hyperplastic, atrophic, and functional |
| do endometrial polyps progress to carcinoma? | no |
| risk factors for endometrial hyperplasia | early menarche, late menopause, nulliparity, obesity, PCOS |
| Type I endometrial carcinoma | low grade neoplasm. estrogen-related, occurs in young women. hyperplasia is present, white people, minimal myometrial invasion, microsatellite instability, stable behavior. |
| Type II endometrial carcinoma | more aggressive and unrelated to estrogen, so occurs in postmenopausal women. No hyperplasia. Black women. Deep invasion. p53 overexpression, progressive |
| specific subtypes of Type I endometrial carcinoma | W.D. endometroid, secretory |
| specific Type II endometrial carcinoma subtypes | serous clear cell |
| which endometrial carcinomas do better, estrogen related ones or non-estrogen-related ones? | estrogen related |
| who tends to get leiomyomas | 20-30% of women >30 yrs, black>white. |
| what drugs may increase the size of a uterine leiomyoma? | progestins, clomiphene, tamoxifen, and pregnancy |
| are leiomyosarcomas related to parity or gravidity? | no |
| mean age for leiomyosarcoma | 52 |
| do leiomyosarcomas usually arise from leiomyomas? | no, usually de novo |
| prognosis of uterine leiomyosarcoma | 10-30% at 5 years |
| What is uterine carcinosarcoma? | adenocarcinoma with malignant stromal differentiation, formerly called malignant mixed mullerian tumor (MMMT) |
| frequency and age range for carcinosarcoma | rare, usually postmenopausal woomen |
| appearance of carcinosarcoma | Polypoid, usually fills endometrial cavity, with soft tan surfaces with hemorrhage and necrosis. usually, sarcomatous stroma dominates and may differentiate --> muscle, cartilage, or osteoid |
| prognosis of carcinosarcoma of the endometrium | very poor |
| what is adenomyosis | a common mesenchymal condition of the endometrium, with endometrial glands and stroma in the myometrium -- not a true tumor |
| usual symptoms of adenomyosis | abnormal bleeding, dysmenorrhea |
| where is adenomyosis most pronounced | in the posterior wall, which is thickened |
| what usually causes granulomatous salpingitis | usually TB or M bovis -- usually bilateral |
| what are hydatid of Morgagni? | paratubal fallopian cysts, incidental and of no consequence. Mullerian in origin, lined by a single layer of tubal-type, ciliated epithelium |
| what causes corpus luteum cysts | delayed resolution of the central cavity of a corpus luteum, allowing continuous progesterone secretion. This causes menstrual irregularities |
| what are surface epithelial inclusion cysts | arise from an invagination of the surface epithelium into the ovarian stroma, with loss of connection with the surface. Most numerous in postmenopausal women. Psammoma bodies. Site of origin of many ovarian epithelial neoplasms |
| risk factors for ovarian tumors | nulliparity, FH, BRCA-1 and BRCA-2 mutations, Lunch syndrome, Turner syndrome, Peutz-Jeher's syndrome, smoking |
| who tends to get serous ovarian tumors? how often are they malignant? | usually 40-70, 70% benign, 10% borderline, 25% malignant |
| peak age for mucinous ovarian tumors | 30-60 |
| which are the largest ovarian tumors? | mucinous |
| microscopic aspects of mucinous ovarian tumors | endocervical type or less commonly intestine-like epithelium, associated with pseudomyxoma peritonei when borderline type |
| are endometroid ovarian tumors usually benign or malignant? | malignant |
| usual age for endometroid ovarian tumors | 40s |
| gross appearance of endometroid tumors | may be cystic or solid and not easy to distinguish from serous carcinomas |
| what carcinoma are endometroid tumors of the ovary associated with? | carcinoma of the uterine corpus |
| gross appearance of clear cell adenocarcinoma of the ovary | often unilocular cysts with one or more solid nodules protruding into the lumen |
| what is often associated with clear cell adenocarcinoma of the ovary | ovarian and pelvic endometriosis (occasionally arises in an endometriotic cyst) |
| most common cell types of clear cell adenocarcinoma of the ovary | clear, hobnail, flattened. Lots of glycogen |
| prognosis of clear cell ovarian adenocarcinoma | aggressive, very poor prognosis |
| What are Brenner tumors | 3% of ovarian tumors, with transitional epithelium. 98% benign! |
| gross appearance of brenner tumors | Benign ones are usually small and incidental. Usually resemble fibromas and may have calcifications. may be small nodules in the wall of a mucinous cystadenoma |
| what are struma ovarii? | mondermal ovarian teratoma, has thyroid tissue. |
| symptoms of struma ovarii | ascites, hyperthyroidism can occur but rare. Meig's syndrome rare. 5-10% malignant |
| median age for immature teratoma | 18 |
| normal age for ovarian dysgerminomas? | <30 |
| usual presentation of ovarian dysgerminomas, when symptomatic | abdominal enlargement and/or pain.some may elaborate hCG |
| histology of ovarian dysgerminomas | solid tumors, median dia 15 cm. primordial germ cells arranged in diffuse, insular, or trabecular patterns with eosinophilic or clear cytoplasm |
| tumor marker for yolk sac tumors | serum AFP |
| histological signs of yolk sac tumor | Reticular pattern, Schiller-Duval bodies (75%. have single papilla with a connective tissue core surrounding a central vessel), and hyaline droplets (PAS positive, diastase-resistant globules in most tumors, usually w/ AFP |
| what do granulosa cell tumors make? | usually estrogenic, but can be androgenic |
| age for granulosa cell tumor | 2/3 are postmenopausal, <5% prepubertal. Juvenile and adult forms very different |
| prognosis of granulosa cell tumor | 100% if <5 cm, only prognostic indicator is size |
| Most common ovarian sex cord stromal tumor | fibroma |
| average age of ovarian fibroma | 48 (rare in younger patients, unless have basal cell nevus syndrome) |
| appearance of ovarian fibroma | Composed of spinde cells making colagen, often in a cartwheel-like "storiform" pattern. On average, about 6 cm; if <10cm, associated with ascites and Meig's syndrome |
| in what age group are ovarian sertoli-leydig cell tumors common | in all age groups, but peak in reproductive years ~25 |
| presentation of ovarian sertoli cell-leydig cell tumors | half present w/ hirsutism/virilization, a few have estrogen excess symptoms, and the rest have mass effect symptoms |
| appearance of ovarian sertoli cell - leydig cell tumors | firm, lobulated yellow or tan mass with a smooth external surface and cysts |
| what is a Krukenberg tumor? | a metastatic tumor in the ovary with a prominent component of signet ring cells. Most tumors arise from stomach, or other places in the GI tract. only 25% have prior hx of tumor, 1/2 under age of 40. Bilateral 80% of the time |
| average survival for Krukenberg tumor | 10 mo |
| risk factors for complete hydatidiform mole | <15 or >40, asian, personal or family hx, 2+ previous spontaneous miscarriages, infertility, and smoking |
| clinical aspects of CHM | vaginal bleeding, excessive uterine enlargement, pre-eclampsia, high serum hCG, and snowstorm pattern on ultrasound |
| complications of CHM | uterine bleeding, DIC, and trophoblastic embolism, as well as infection, CHORIOCARCINOMA |
| genetics of partial hydatidiform mole | 69ch |
| risk factors for PHM | similar to CHM but not maternal age or race |
| microscopic appearance of partial hydatidiform mole (compare to complete) | 2 populations of chorionic villi, some of which are normal and some are molar and may be cavitary. Trophoblastic proliferation is focal and mostly composed of syncytiotrophoblastic cells. Blood vessels in villi have fetal RBCs, may have fetal parts |
| symptoms of choriocarcinoma | bleeding, high hCG, metastasis to lungs, liver, brain etc |
| what is a placental site trophoblastic tumor (PSTT)? | a rare tumor made of proliferating intermediate trophoblastic tissue deeply infiltrating the myometrium |
| lining of breast ducts | near nipple: stratified squamous epithelium, more distally: pseudostratified columnar and double layered cuboidal. small ducts are lined by a single layer of cells, underneath which are myoepithelial cells |
| effects of estrogen on breast | proliferation of ductal and ductular cells |
| effects of progesterone on breast | proliferationof terminal ductular cells and lobular cells, and proliferation of stromal cells and stromal edema |
| What are the non-proliferative fibrocystic changes | fibrosis, cyst formation, and apocrine metaplasia |
| proliferative fibrocystic changes | epithelial hyperplasia, papillomatosis, sclerosing adenosis, and complex sclerosing lesion (radial scar) |
| what is duct ectasia? | aka plasma cell mastitis. a disease of older women (40-60), caused by duct dilatation 2' to obstruction by inspissated secretion. Ducts may rupture --> chronic inflammation, giant cell rxn, fibrosis. |
| early changes in fat necrosis of the breast | hemorrhagic (looks like granulation tissue) |
| late changes in breast fat necrosis | grey-white, irregularly shaped, firm chalky nodule, resembling cancer |
| histologic appearance of breast fat necrosis | necrotic fat cells infiltrated by foamy macrophages and neutrophils with foreign body giant cells and hemosiderin-laden macrophages. |
| who tends to get fibroadenoma of the breast? | occurs in adolescents and women of reproductive age , usually <40 |
| appearance of breast fibroadenoma | a well-defined, mobile, firm breast mass usually in the outer upper quadrant. Well-demarcated from surrounding tissues. May have slit like spaces. |
| juvenile fibroadenomas | often large and very hypercellular stroma with absent mitoses, fast-growing |
| What is a phyllodes tumor? | a large, bulky, lobulated breast tumor similar to fibroadenoma. Usually benign. May be huge. White/yellow, cauliflower-like. More cellular stroma than fibroadenoma |
| age group for intraductal papilloma | 30-50 |
| symptoms of intraductal papilloma | bloody nipple discharge (most common cause in women <50). May present with small sub-areolar tumor and rarely with nipple retraction. Small, papillary fronds covered by columnar/cuboidal cells, overlying a connective tissue stalk. |
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