What is the duration of flares in Behçet syndrome?
1-4 weeks.
What are the main symptoms of Behçet syndrome?
Recurrent aphthous ulcers, genital ulcerations, uveitis, and erythema nodosum.
1/99
p.5
Behçet Syndrome

What is the duration of flares in Behçet syndrome?

1-4 weeks.

p.5
Behçet Syndrome

What are the main symptoms of Behçet syndrome?

Recurrent aphthous ulcers, genital ulcerations, uveitis, and erythema nodosum.

p.2
Klinefelter Syndrome

What is the Jod-Basedow Phenomenon?

Iodine-induced hyperthyroidism occurring after iodine IV contrast or amiodarone use.

p.5
Immunoglobulin A Vasculitis

What are the classic symptoms of Immunoglobulin A Vasculitis?

Triad of arthralgias, abdominal pain, and palpable purpura on buttocks/legs.

p.4
Duchenne Muscular Dystrophy

What is Erb palsy commonly known as?

'Waiter's tip' due to injury to the upper trunk of the brachial plexus.

p.4
Duchenne Muscular Dystrophy

What is the typical age range for presentation of Legg-Calve-Perthes disease?

Commonly presents between 5-7 years.

p.6
Klinefelter Syndrome

What is Bartter syndrome?

A reabsorption defect in the thick ascending loop of Henle affecting Na+/K+/2Cl- cotransporter.

p.2
Klinefelter Syndrome

What is the most common cause of hyperthyroidism?

Graves Disease.

p.5
Immunoglobulin A Vasculitis

What is the most common childhood systemic vasculitis?

Immunoglobulin A Vasculitis (formerly called Henoch-Schonlein purpura).

p.5
Raynaud phenomenon

What is Raynaud phenomenon?

Decreased blood flow to skin due to arteriolar vasospasm in response to cold or stress.

p.3
Huntington Disease

What are the characteristics of Peutz-Jeghers Syndrome?

Multiple intestinal polyps, mucocutaneous pigmentation, and tumors of the ovary, breast, and pancreas.

p.1
Klinefelter Syndrome

What does the Sign of Leser-Trelat indicate?

Multiple seborrheic keratoses associated with GI and other visceral malignancies.

p.5
Broca's aphasia

Where is Broca's area located?

Inferior frontal gyrus of the frontal lobe.

p.1
Klinefelter Syndrome

What antibodies are involved in Lambert-Eaton Myasthenic Syndrome?

Antibodies against presynaptic calcium channels at the NMJ associated with SCLC.

p.7
Klinefelter Syndrome

What are the characteristic features of Marfan syndrome?

Arachnodactyly, lens dislocation, aortic dissection, and hyperflexible joints.

p.4
Klinefelter Syndrome

What is the most common inherited bleeding disorder?

Von Willebrand disease.

p.2
Klinefelter Syndrome

What is Cushing Syndrome?

A constellation of clinical features resulting from chronic exposure to excess glucocorticoids.

p.7
Klinefelter Syndrome

What is the chromosomal pattern associated with Klinefelter syndrome?

47,XXY.

p.4
Klinefelter Syndrome

What is Osgood-Schlatter disease?

An overuse injury caused by repetitive strain and chronic avulsion of the secondary ossification center of the proximal tibial tubercle.

p.5
Stevens-Johnson syndrome

What is the difference between Stevens-Johnson syndrome and Toxic Epidermal Necrolysis?

TEN is a more severe form involving >30% body surface area.

p.5
Charcot-Bouchard microaneurysm

What is Charcot-Bouchard microaneurysm associated with?

Affects small vessels and can cause hemorrhagic intraparenchymal hemorrhage.

p.3
Huntington Disease

What defect is seen in Bernard-Soulier Syndrome?

Autosomal recessive defect in adhesion due to defective Gplb.

p.6
Alzheimer Disease

What is the most common cause of dementia in the elderly?

Alzheimer disease.

p.4
Huntington Disease

What are the characteristic cells found in Hodgkin lymphoma?

Reed-Sternberg cells, which are CD15+ and CD30+.

p.2
Klinefelter Syndrome

What is Addison Disease?

Primary adrenal insufficiency, most commonly due to autoimmune adrenalitis.

p.3
Huntington Disease

What syndromes are associated with Turcot Syndrome?

FAP or Lynch syndrome, along with malignant brain tumors.

p.6
Klinefelter Syndrome

What is Fanconi syndrome?

A reabsorption defect in the proximal convoluted tubule leading to excretion of amino acids, glucose, and other substances.

p.7
Klinefelter Syndrome

What are the symptoms of Extramammary Paget disease?

Pruritus, erythema, crusting, and ulcers.

p.2
Klinefelter Syndrome

What is Dressler Syndrome associated with?

Fibrinous pericarditis post-myocardial infarction.

p.3
Huntington Disease

What type of diverticulum is Zenker Diverticulum?

Pharyngoesophageal false diverticulum.

p.4
Alzheimer Disease

What is the appearance of Burkitt lymphoma under a microscope?

Sheets of lymphocytes with interspersed 'tingible body' macrophages.

p.3
Huntington Disease

What is Gardner Syndrome associated with?

Multiple polyps in the intestines, osteomas, fibromas, and congenital hypertrophy of the retinal pigment epithelium.

p.1
Creutzfeldt-Jakob Disease

What is a characteristic of Creutzfeldt-Jakob Disease?

Rapidly progressive dementia.

p.2
Celiac Disease

What characterizes Crohn Disease?

Transmural inflammation with skip lesions, affecting any part of the GI tract.

p.7
Klinefelter Syndrome

What is Kallmann syndrome characterized by?

Defective migration of neurons leading to decreased synthesis of GnRH, hyposmia/anosmia, and infertility.

p.4
Wernicke Encephalopathy

What are the symptoms of Takayasu arteritis?

Weak upper extremity pulses, fever, night sweats, arthritis, myalgias.

p.5
Huntington Disease

What genetic mutation is associated with Huntington disease?

Autosomal dominant trinucleotide (CAG) repeat expansion in the HTT gene on chromosome 4.

p.3
Huntington Disease

What is Glanzmann defect associated with?

Defective Gpllb/llla leading to decreased platelet-to-platelet aggregation.

p.2
Klinefelter Syndrome

What is Osler-Weber-Rendu syndrome?

An autosomal dominant hereditary condition characterized by telangiectasias and arteriovenous malformations.

p.6
Alzheimer Disease

What symptoms are associated with Lewy body dementia?

Visual hallucinations, fluctuating cognition, REM sleep behavior disorder, and parkinsonism.

p.3
Huntington Disease

What is Hirschsprung Disease characterized by?

Lack of ganglion cells/enteric nervous plexuses in the distal segment of the colon.

p.5
Stevens-Johnson syndrome

What is Stevens-Johnson syndrome associated with?

Adverse drug reactions.

p.6
Klinefelter Syndrome

What is the presentation of IgA nephropathy?

Episodic hematuria occurring with respiratory or GI tract infections.

p.4
Korsakoff Syndrome

What is Buerger disease associated with?

Heavy tobacco smoking history, primarily in males under 40 years old.

p.7
Duchenne Muscular Dystrophy

What mutation is associated with Duchenne muscular dystrophy?

X-linked recessive frameshift mutation of the dystrophin gene.

p.2
Klinefelter Syndrome

What does Kussmaul Sign indicate?

Paradoxical increase in JVP on inspiration, seen in constrictive pericarditis and other conditions.

p.5
Behçet Syndrome

What can precipitate Behçet syndrome flares?

HSV or parvovirus.

p.2
Klinefelter Syndrome

What does Zollinger-Ellison Syndrome cause?

Severe peptic ulcer disease due to unregulated gastrin release from gastrinomas.

p.6
Klinefelter Syndrome

What are the symptoms of Horner syndrome?

Ptosis, anhidrosis, and miosis.

p.7
Klinefelter Syndrome

What is Asherman syndrome associated with?

Adhesions and/or fibrosis of the endometrium, often after dilation and curettage.

p.7
Klinefelter Syndrome

What are the symptoms of Kartagener syndrome?

Situs inversus, chronic ear infections, sinusitis, bronchiectasis, and infertility.

p.1
Wernicke Encephalopathy

What are the main symptoms of Wernicke Encephalopathy?

Confusion, ophthalmoplegia, and ataxia.

p.1
Wiskott-Aldrich Syndrome

What are the key features of Autosomal Dominant Hyper-IgE Syndrome?

Deficiency of Th17 cells leading to defective neutrophils, recurrent cold abscesses, eczema, and increased eosinophils and serum IgE.

p.1
Chagas Disease

What are the symptoms of Chagas Disease?

Megacolon, megaesophagus, and unilateral periorbital swelling (Romana sign).

p.7
Klinefelter Syndrome

What is a common presentation of Turner syndrome?

Short stature and ovarian dysgenesis.

p.1
Klinefelter Syndrome

What is Good Syndrome characterized by?

Hypogammaglobulinemia.

p.6
Klinefelter Syndrome

What is Müllerian agenesis?

A condition that may present as primary amenorrhea due to a lack of uterine development.

p.1
Klinefelter Syndrome

What mutation is associated with Brugada Syndrome?

Loss of function mutation of sodium channels.

p.2
Klinefelter Syndrome

What is a characteristic of Wolff-Parkinson-White Syndrome?

Prolonged QRS duration due to slow conduction through the accessory pathway.

p.2
Klinefelter Syndrome

What is a common feature of Hashimoto Thyroiditis?

Autoimmune hypothyroidism with germinal centers and fibrosis.

p.1
Korsakoff Syndrome

What causes Korsakoff Syndrome?

Chronic alcohol overuse.

p.1
Wiskott-Aldrich Syndrome

What mutation is associated with Wiskott-Aldrich Syndrome?

Mutation in the WAS gene.

p.7
Klinefelter Syndrome

What are some characteristic findings of Klinefelter syndrome?

Testicular atrophy, tall stature with eunuchoid proportions, gynecomastia, and female hair distribution.

p.3
Huntington Disease

What is Gilbert Syndrome characterized by?

Mildly decreased UDP-glucuronosyltransferase conjugation, leading to asymptomatic or mild jaundice.

p.4
Creutzfeldt-Jakob Disease

What is the characteristic periosteal reaction seen in Ewing sarcoma?

'Onion skin' periosteal reaction.

p.1
Klinefelter Syndrome

What is Trousseau Syndrome associated with?

Migratory superficial thrombophlebitis.

p.3
Huntington Disease

What are Heinz bodies associated with?

G6PD deficiency, leading to bite cells.

p.6
Klinefelter Syndrome

What is Charcot-Marie-Tooth disease?

A group of progressive hereditary nerve disorders related to defective protein production affecting peripheral nerves or the myelin sheath.

p.4
Chagas Disease

What are Birbeck granules and in which condition are they seen?

Birbeck granules are 'tennis racket' or rod-shaped structures seen in Langerhans cell histiocytosis.

p.2
Celiac Disease

What is Celiac Disease?

Autoimmune-mediated intolerance of gliadin, leading to gluten sensitivity.

p.7
Klinefelter Syndrome

What is the most common cause of primary amenorrhea?

Turner syndrome (45,XO).

p.6
Klinefelter Syndrome

What are the symptoms of Alport syndrome?

Eye problems, glomerulonephritis, and sensorineural deafness.

p.4
Celiac Disease

What is Kawasaki disease characterized by?

Conjunctival injection, rash, cervical adenopathy, strawberry tongue, hand-foot changes, and fever.

p.3
Huntington Disease

What is Meckel Diverticulum associated with?

Persistence of the vitelline (omphalomesenteric) duct.

p.6
Klinefelter Syndrome

What genetic mutation is associated with von Hippel-Lindau disease?

Deletion of the VHL gene on chromosome 3p.

p.2
Celiac Disease

What is Whipple Disease?

Infection with Tropheryma whipplei, causing cardiac, arthralgias, and neurologic symptoms.

p.3
Huntington Disease

What causes Dubin-Johnson Syndrome?

Conjugated hyperbilirubinemia due to defective liver excretion.

p.3
Huntington Disease

What are Howell-Jolly bodies?

Basophilic nuclear remnants removed by splenic macrophages, associated with functional hyposplenia.

p.7
Duchenne Muscular Dystrophy

What is a key sign of Duchenne muscular dystrophy?

Calf pseudohypertrophy and Gowers' sign.

p.6
Alzheimer Disease

What are the characteristic histological findings in Alzheimer's disease?

Neurofibrillary tangles and Hirano bodies.

p.3
Huntington Disease

What can Meckel Diverticulum harbor?

Ectopic acid-secreting gastric mucosa and/or pancreatic tissue.

p.6
Klinefelter Syndrome

What is the most common cause of peripheral facial palsy?

Bell palsy, usually after HSV reactivation.

p.5
Raynaud phenomenon

What is the sequence of color change in Raynaud phenomenon?

White (ischemia) to blue (hypoxia) to red (reperfusion).

p.3
Huntington Disease

What is Crigler-Najjar Syndrome type I characterized by?

Absent UDP-glucuronosyltransferase, presenting early in life.

p.3
Huntington Disease

What is Wilson disease associated with?

Copper accumulation in liver, brain, cornea, and kidneys.

p.1
Klinefelter Syndrome

What are the components of Tetralogy of Fallot?

Right ventricular hypertrophy, overriding aorta, and VSD.

p.4
Wiskott-Aldrich Syndrome

What is the primary immunoglobulin overproduced in Waldenstrom macroglobulinemia?

IgM.

p.6
Klinefelter Syndrome

What is a characteristic sign of Marcus Gunn pupil?

Both pupils dilate instead of constrict when light is swung to the affected eye.

p.1
Creutzfeldt-Jakob Disease

What is the cause of Bovine Spongiform Encephalopathy?

Mad cow disease.

p.4
Alzheimer Disease

What autoimmune disease is characterized by lymphocytic infiltration of exocrine glands?

Sjogren syndrome.

p.5
Parkinson disease

What are the classic symptoms of Parkinson disease?

Tremor, rigidity, akinesia, postural instability, shuffling gait, and micrographia.

p.1
Klinefelter Syndrome

What is Ebstein Anomaly associated with?

Displacement of the tricuspid valve downward into the RV, associated with lithium exposure in utero.

p.5
Wernicke's aphasia

What is the main characteristic of Wernicke's aphasia?

Impaired language comprehension with lack of insight.

p.7
Klinefelter Syndrome

What genetic defect is associated with Lesch-Nyhan syndrome?

HGPRT deficiency, X-linked recessive.

p.7
Klinefelter Syndrome

What defect is seen in Ehlers-Danlos syndrome?

Type V collagen defect.

p.7
Duchenne Muscular Dystrophy

How does Becker muscular dystrophy differ from Duchenne muscular dystrophy?

Becker is less severe and involves slow, progressive muscle weakness.

p.1
Klinefelter Syndrome

What is the main feature of Myasthenia Gravis?

Antibodies against postsynaptic Ach receptors at the NMJ associated with thymoma.

p.5
Huntington Disease

What are the symptoms of Huntington disease?

Chorea, athetosis, aggression, depression, and dementia.

p.1
Klinefelter Syndrome

What characterizes Eisenmenger Syndrome?

Conversion of an initial left to right shunt into a right to left shunt.

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