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Path Block 3

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.
Created by: saral



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