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Prevalent Among African Americans due to Increased Malarial Resistance
2 mins
Galactokinase Deficiency
Autosomal Recessive
Galactose to Galactose 1P
Galactose Appears in Blood and Urine
Benign
Infantile Cataracts
Failure to Develop a Social Smile
2 mins
Giant Cell Tumor
Pathophysiology
Osteoclastoma
Epiphyseal End of Long Bones
Peak Incidence 20-40 Years
Benign
Knee Region
Diagnosis
Soap Bubble Appearance on X-ray
Spindle-shaped Cells
Multinucleated Giant Cells
46 secs
Hydralazine
Indications
Reduce Afterload
Severe Hypertension
Safe during Pregnancy
CHF
Mechanism of Action
Increases cGMP
Vasodilates Arterioles
Side Effects
Drug-induced Lupus
Reflex Tachycardia
1 min
Klinefelter's Syndrome
Pathophysiology
Male (XXY)
Signs and Symptoms
Eunuchoid Body Shape
Gynecomastia and Female Hair Distribution
Testicular Atrophy
Dysgenesis of Seminiferous Tubules
Possible Developmental Delay
Hypogonadism
Decreased Inhibin B
Increased FSH
Abnormal Leydig Cell Function
Decreased Testosterone
Increased LH
Increased Estrogen
Barr body (inactivated X chromosome)
6 mins
MEN 1 (Multiple Endocrine Neoplasia)
Pathophysiology
Autosomal Dominant
Menin Mutation (Tumor Suppression Gene)
Chromosome 11
Signs and Symptoms
Pancreatic Endocrine Tumors
Pituitary Tumors
Parathyroid Adenomas
2 mins
Meningioma
Epidemiology
Most Common Adult Primary Brain Tumor
pathology
Benign
Originate from Arachnoid Villi
Dural Attachment
Parasagittal
Clinical Manifestations
Contralateral Leg Weakness
Seizures
Diagnosis
Psammoma Bodies
Calcifications
Increased Bone Density
3 mins
Peutz-Jeghers Syndrome
Mechanism and Characteristics
Symptomatic Age: 10-30 Years
LKB1/STK11 Gene Mutation
Autosomal Dominant
Signs and Symptoms
Benign GI Hamartomatous Polyps
Mucocutaneous Hyperpigmentation
Positive Family History
Increased Risk of Colorectal Carcinoma
1 min
Plummer-Vinson Syndrome
Triad of Symptoms
Dysphagia
Esophageal Webs
Glossitis
Iron Deficiency Anemia
Association
Squamous Cell Cancer of Esophagus
1 min
Selective IgA Deficiency
Pathophysiology
Defect in Class Switching
Decreased IgA
Signs and Symptoms
Often Asymptomatic
Increase in Atopic & Autoimmune Diseases
Sinopulmonary Infections
Increased Risk Giardia Lamblia Infections
Inflammatory Bowel Disease
Celiac Disease
Considerations
Anaphylaxis From IgA Containing Blood Products
2 mins
Trazodone
Indications
Insomnia
Depression
Mechanism of Action
Inhibit Serotonin Reuptake
Alpha-1 Blocker
Histamine (H1) Blocker
Side Effects
Sedation
Orthostatic Hypotension
Dry Mouth
Priapism
Arrhythmias
2 mins
Von Willebrand Disease
Mixed platelet and coagulation disorder
Mechanism
Autosomal Dominant Condition Leading to Reduced vWF
Defect in platelet plug formation
Labs
Increased Bleeding Time
PTT increased
Factor VIII decreased
Normal platelet count
Treatment
DDAVP (synthetic vasopressin)
1 min
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