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FA Review

First Aid Rapid Review

QuestionAnswer
Abdominal pain, ascites, hepatomegaly Budd-Chiari syndrome (Post-Hepatic venous thrombosis)
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use Clostridium difficile infection
Achilles tendon xanthoma Familial Hypercholesterolemia
Decreased LDL receptor signaling Familial Hypercholesterolemia
Adrenal hemorrhage, hypotension, DIC Waterhouse-Friderichsen syndrome
Meningococcemia Waterhouse-Friderichsen syndrome
Anaphylaxis following blood transfusion IgA deficiency
Anterior "drawer sign" positive Anterior cruciate ligament (ACL) injury
Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints Marfan syndrome
Fibrillin defect Marfan syndrome
Athlete with polycythemia Secondary to EPO injection
Back pain, fever, night sweats Pott disease
Vertebral TB Pott disease
Bilateral acoustic schwannomas Neurofibromatosis type 2
Bilateral hilar adenopathy, uveitis Sarcoidosis
What kind of granulomas are seen in Sarcoidosis? Non-caseating granulomas
Black eschar on face of patient with diabetic ketoacidosis Mucor or Rhizopus fungal infection
Blue sclerae Osteogenesis imperfecta
Type I collagen defect Osteogenesis imperfecta
Bluish line on gingiva Burton line
Lead poisoning is seen with which kind of gingival problem? Burton line
Bone pain, bone enlargement, arthritis Paget disease of bone
Increased osteoblastic and osteoclastic activity Paget disease of bone
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing Aortic regurgitation
"Butterfly" facial rash and Raynaud phenomenon in a young female Systemic Lupus Erythematosus (SLE)
Cafe-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas Neurofibromatosis type 1
Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities McCune-Albright syndrome
Mosaic G-protein signaling mutation is seen with? McCune-Albright syndrome
Calf pseudohypertrophy Muscular dystrophy
What is the most common muscular dystrophy? Duchenne muscular dystrophy
What is Duchenne Muscular dystrophy caused by? X-linked recessive frameshift mutation of dystrophin gene
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctiva and tongue, hand-foot changes Kawasaki disease
What is the treatment for Kawasaki disease? IVIG and aspirin
"Cherry-red spots" on macula Tay-Sachs, Niemann-Pick, central retinal artery occlusion
Ganglioside accumulation Tay-Sachs
Sphingomyelin accumulation Niemann-Pick
Chest pain on exertion Angina
Stable Angina: Chest pain with moderate exertion
Chest pain with minimal exertion or at rest Unstable angina
Chest pain, pericardial effusion/friction rub, persistent fever following MI Dressler syndrome
Autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode Dressler syndrome
Chest pain with ST depression on EKG Unstable angina or NSTEMI
Chest pain with ST depression on EKG , positive troponins NSTEMI
Chest pain with ST depression on EKG, negative troponins Unstable angina
Child uses arms to stand up from squat Duchenne muscular dystrophy
Positive Gowers sign Duchenne muscular dystrophy
Child with fever later develops red rash on face that spreads to body Erythema infectiosum/fifth disease
"Slapped cheeks" appearance, caused by parvovirus B19 Erythema infectiosum/fifth disease
Another term used for Erythema Infectiosum? Fifth disease
Chorea, dementia, caudate degeneration Huntington disease
Autosomal dominant CAG repeat expansion Huntington disease
Chorioretinitis, hydrocephalus, intracranial calcifications Congenital toxoplasmosis
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria McArdle disease
Skeletal muscle glycogen phosphorylase deficiency McArdle disease
Cold intolerance Hypothyroidism
Conjugate horizontal gaze palsy, horizontal diplopia Internuclear ophthalmoplegia
Damage to MLF Internuclear ophthalmoplegia
Continuous "machine-like" heart murmur PDA
Which murmur is closed with Indomethacin? PDA
PDA is kept open with: PGE analogues
Cutaneous/dermal edema due to connective tissue deposition Myxedema
What conditions are associated with Myxedema? Hypothyroidism, Graves disease ([pretibial])
Cutaneous flushing, diarrhea, bronchospasm Carcinoid syndrome
Right-sided cardiac valvular lesions, increased 5-HIAA Carcinoid syndrome
Dark purple skin/mouth nodules in a patient with AIDS Kaposi sarcoma
Which virus is associated with Kaposi sarcoma? HHV-8
Deep, labored breathing/hyperventilation and Hx of increased HbA1 Diabetic ketoacidosis
Kussmaul respiration are common in which diabetic complication? Diabetic ketoacidosis
Dermatitis, dementia, diarrhea Pellagra
Niacin (vitamin B3) deficiency Pellagra
Dilated cardiomyopathy, edema, alcoholism or malnutrition Wet beriberi
Thiamine (Vit B1) deficiency and Dilated cardiomyopathy Wet beriberi
Dog or cat bite resulting in infection Pasteurella multocida
Cellulitis art inoculation site Pasteurella multocida
Dry eyes, dry mouth, arthritis Sjogren syndrome
Autoimmune destruction of exocrine glands Sjogren syndrome
Dysphagia (esophageal webs), glossitis, iron deficiency anemia Plummer-Vinson syndrome
What is a possible complication of Plummer-Vinson syndrome? Esophageal Squamous Cell carcinoma
Elastic skin, hypermobility of joints, and increased bleeding tendency Ehlers-Danlos syndrome
Type V collagen defect, type III collagen defect seen in vascular subtype of ED Ehlers-Danlos syndrome
Enlarged, hard left supraclavicular node Virchow node
Episodic vertigo, tinnitus, hearing loss Meniere disease
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells Mycosis fungoides or Sezary syndrome
Cutaneous T cell lymphoma Mycosis fungoides
Mycosis fungoides + malignant T cells in the blood Sezary syndrome
Facial muscle spasm upon tapping Chvostek sign
Positive Chvostek sign Hypocalcemia
Fat, female, forty, and fertile Cholelithiasis
Medical terminology for gallstones Cholelithiasis
Fever, chills, headache, myalgia following antibiotic treatment for syphilis Jarisch-Herxheimer reaction
Rapid lysis of spirochetes results in Endotoxin release Jarisch-Herxheimer reaction
Fever, cough, conjunctivitis, coryza, diffuse rash Measles
Fever, night sweats, weight loss B symptoms (staging) of lymphoma
Fibrous plaques in soft tissue of penis wit abnormal curvature Peyronie disease
Connective tissue disorder of the penis Peyronie disease
Golden brown rings around peripheral cornea Wilson disease
Kayser-Fleischer rings due to copper accumulation Wilson disease
Gout, intellectual disability, self-mutilating behavior in a boy Lesch-Nyhan syndrome
HGPRT deficiency, X-linked recessive Lesch-Nyhan syndrome
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia Peutz-Jeghers syndrome
Inherited, benign polyps can cause bowel obstruction; increased cancer risk, mainly GI Peutz- Jeghers syndrome
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises Gaucher disease
Glucocerebrosidase deficiency Gaucher disease
Hereditary nephritis, sensorineural hearing loss, cataracts Alport syndrome
Mutation in collagen IV Alport syndrome
Hyperphagia, hypersexuality, hyperorality, hyperdocility Kluver-Bucy syndrome
Bilateral amygdala lesion Kluver-Bucy syndrome
Hyperreflexia, hypertonia, Babinski sign present UMN damage
Hyporeflexia, hypotonia, atrophy, fasciculations LMN damage
Situs inversus, chronic sinusitis, bronchiectasis, infertility Kartagener syndrome
Dynein arm defect affecting cilia Kartagener syndrome
Slow, progressive weakness in boys Becker muscular dystrophy
X-linked missense mutation in dystrophin; less severe than Duchenne Becker muscular dystrophy
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia Patau syndrome
Trisomy 13 Patau syndrome
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect Edwards syndrome
Trisomy 18 Edwards syndrome
Single palmar crease Down syndrome
Swollen gums, mucosal bleeding, poor wound healing, petechiae Scurvy
Vitamin C deficiency causes: Scurvy
What is the biochemical deficient in Vitamin C deficiency? Cannot hydroxylate proline/lysine for collagen synthesis
Infant with hypoglycemia, hepatomegaly Cori disease or Von Gierke disease
Cori disease is due to missing Debranching enzyme
Von Gierke disease is due to missing Glucose-6-phosphatase deficiency
Myopathy, exercise intolerance, and infantile hypertrophic cardiomyopathy Pompe disease
What enzyme deficiency causes Pompe disease? Lysosomal a-1, 4-glucosidase
Male child, recurrent infections, no mature B cells Bruton disease
X-linked agammaglobulinemia Bruton disease
Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE Hyper-IgE syndrome
What is another name for Hyper-IgE syndrome? Job syndrome
Neutrophil chemotaxis abnormality is seen inJ: Hyper-IgE syndrome
"Strawberry tongue" Scarlet Fever and Kawasaki disease
Red "currant jelly" sputum in alcoholic or diabetic patients Klebsiella pneumoniae pneumonia
Large rash with bull's-eye appearance Erythema chronicum migrans form Ixodes tick bite
What organism causes Lyme disease? Borrelia
Indurated, ulcerated genital lesion, and NON-painful Chancre
What organism and disease is associated with genital chancre? Primary syphilis caused by Treponema pallidum
Induced, ulcerated genital lesion, painful and with exudate Chancroid
What is the most common cause of a chancroid? Haemophilus ducreyi infection
Pupil accommodates but does not react Argyll Robertson pupil
What condition is seen with Argyll Robertson pupil? Neurosyphylis
Smooth, moist, painless, wart-like white lesions on genitals Condylomata lata
Condylomata late is associated with which stage of syphilis? Second stage
"Worst headache of my life" Subarachnoid hemorrhage
Weight loss, diarrhea, arthritis, fever, adenopathy Whipple disease
What condition is caused by Tropheryma whipplei? Whipple disease
Vomiting blood following gastroesophageal lacerations Mallory-Weiss syndrome
Mallory-Weiss syndrome is often seen in: Alcoholics and bulimic patients
Vascular birthmark of the face Nevus flammeus
What is the classical description of vascular birthmark in Sturge-Weber syndrome Port-wine stain
Benign, but associated with Sturge-Weber syndrome? Nevus flammeus
Urethritis, conjunctivitis, arthritis in a male Reactive arthritis associated with HLA-B27
Unilateral facial drooping involving forehead LMN facial nerve (CN VII) palsy
Which kind of Motor neuron damage of CN VII palsy spare the forehead? UMN
Toe extension/ fanning upon plantar scape Babinski sign
Adult UMN lesion is often presented with a positive Babinski sign
Thyroid tumors, pheochromocytoma, ganglioneuromatosis MEN 2B
Autosomal dominant RET mutation MEN 2A and MEN 2B
Thyroid and parathyroid tumors, pheochromocytoma MEN 2A
Telangiectasias, recurrent epitalis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria Osler-Weber-Rendu syndrome
Systolic ejection murmur (crescendo-decrescendo) Aortic stenosis
Swollen, hard, painful finger joints Osteoarthritis
Osteophytes on PIP (Bouchard nodes), DIP (Heberden nodes) Osteoarthritis
What two classical joint nodes are associated with Osteoarthritis? Bouchard nodes (PIP) and Heberden nodes (DIP)
Sudden swollen/painful big toe joint, tophi Gout/podagra
What kind of electrolyte imbalance is associated with the development of Gout? Hyperuricemia
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema Turner syndrome
45, XO Turner syndrome
Splinter hemorrhages in fingernails Bacterial endocarditis
Small, irregular red spots, on buccal/lingual mucosa with blue-white centers Koplik spots
Koplik spots are associated with: Measles virus
Another name for rubeola virus Measles virus
Skin hyperpigmentation, hypotension, fatigue Primary adrenocortical insufficiency
What is the common name for Primary adrenocortical insufficiency? Addison disease
What hormonal imbalances are primary in Addison disease? Increased ACTH and Increased a-MSH production
The hyperpigmentation in Addison disease is due to: Increased a-MSH production
Short stature, cafe au lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia Fanconi anemia
Genetic loss of DNA crosslink repair; often progresses to AML Fanconi anemia
Severe jaundice in neonate Crigler-Najjar syndrome
Severe congenital unconjugated hyperbilirubinemia Crigler-Najjar syndrome
Retinal hemorrhages with pale centers Roth spots
Name of ocular signs in Bacterial endocarditis Roth spots
Resting tremor, rigidity, akinesia, postural instability, shuffling gait Parkinson disease
Loss of dopaminergic neurons in substantia nigra pars compacta Parkinson disease
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma von-Hippel-Lindau disease
Red urine in the morning, fragile RBCs Paroxysmal nocturnal hemoglobinuria
Red, itchy, swollen rash of nipple/areola Paget disease of the breast
Sign of underlying breast neoplasm Paget disease of the breast
Red "currant jelly" stools Acute mesenteric ischemia (adults), intussusception (children)
Rash on palms and soles Coxsackie A, Secondary syphilis, Rocky Mountain spotted fever
Rapidly progressive limb weakness that ascends following GI/upper respiratory infection Guillain-Barre syndrome
Acute inflammatory demyelinating polyradiculopathy subtype Guillain-Barre syndrome
Ptosis, miosis, anhidrosis Horner syndrome
Pruritic, purple, polygonal planar papules and plaques (6 P's) Lichen planus
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets Fanconi syndrome
Multiple combined dysfunction of the proximal convoluted tubule Fanconi syndrome
Pink complexion, dyspnea, hyperventilation Emphysema
"Pink puffer", Emphysema
Smoking emphysema Centriacinar emphysema
Alpha-1-deficiency emphysema Panacinar emphysema
Periorbital and/or peripheral edema, proteinuria (>3.5g/day), hypoalbuminemia, hypercholesterolemia Nephrotic syndrome
Pancreatic, pituitary, parathyroid tumors MEN 1
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria Henoch-Schonlein purpura
IgA vasculitis affecting skin and kidneys Henoch-Schonlein purpura
Painless jaundice Cancer of the pancreatic head obstruction bile duct
Painless erythematous lesions on palms and soles Janeway lesions
Infective endocarditis, septic emboli/microabscesses Janeway lesions
Jaundice, palpable distended non-tender gallbladder Courvoisier sign
Distal malignant obstruction of biliary tree Courvoisier sign
Lucid interval after traumatic brain injury Epidural hematoma
Middle meningeal rupture Epidural hematoma
Mucosal bleeding and prolonged bleeding time Glanzmann thrombasthenia
Defect in platelet aggregation due to lack of GpIIb/IIIa Glanzmann thrombasthenia
Muffled heart sounds, distended neck veins, hypotension Beck triad of cardiac tamponade
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth Gardner syndrome
Subtype of FAP Gardner syndrome
Neonate with arm paralysis following difficult birth Erb-Duchenne palsy
Superior trunk [C5-C6] brachial plexus injury Erb-Duchenne palsy
What is the classical sign of Erb-Duchenne palsy? "waiter's tip"
No lactation postpartum, absent menstruation, cold intolerance Sheehan syndrome
Pituitary infarction Sheehan syndrome
Painful blue fingers/toes, hemolytic anemia Cold agglutinin disease
Autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL Cold agglutinin disease
Painful fingers/toes changing color form blue to white to red with cold or stress Raynaud phenomenon
Vasospasms in extremities Raynaud phenomenon
Severe RLQ pain with palpation of LLQ Rovsing sign
(+) Rovsing sign Acute appendicitis
Severe RLQ pain with deep tenderness McBurney sign
What is the most common sign in acute appendicitis? McBurney sign
Created by: rakomi