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36 Cards in this Set
- Front
- Back
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Peripheral neuropathy, heart failure, diet deficient in whole grains, meat, fortified cereals, nuts, and legumes |
Thiamine Deficiency (B1) aka BeriBeri |
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Angular Cheilosis, stomatitis, glossitis, normocytic anemia, seborrheic dermatitis |
Riboflavin (B2) deficiency |
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Dermatitis, diarrhea, delusions/dementia, glossitis |
Niacin (B3) deficiency |
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Cheilosis, stomatitis, glossitis, irritability, confusion, depression |
Pyridoxine (B6 deficiency) **Think Isoniazid use** |
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Megaloblastic anemia, neurologic defects (confusion, paresthesias, ataxia) |
Vitamin B12 (Cobalamin) deficiency |
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Megaloblastic anemia, neural tube defects |
Folate deficiency (B9) |
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Punctate hemorrhage, gingivitis, corkscrew hair (vitamin deficiency) |
Vitamin C Deficiency (Scurvy) |
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Bounding ("Waterhammer") pulse |
Aortic regurgitation (early diastolic murmur) |
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Pulsus parvus et tardus |
Weak delayed pulse Assoc with Aortic Stenosis |
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+ pap smear showing ASC-US in female >/= 25 years old. Next step.... |
HPV DNA test If + do colposcopy. If - repeat Pap and HPV test in 3 years (If age 21-24, repeat cytology in 1 year) |
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Enthesitis |
Inflammation and pain at the points where tendons and ligaments attach to bone Characteristic of sponyloarthropathies: ankylosing spondylitis, psoriatic arthritis, reactive arthritis. |
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Describe Cauda Equina Syndrome |
Usually bilateral, severe radicular pain Saddle hypo/anesthesia Asymmetric motor weakness Hyporeflexia/areflexia Late onset bowel and bladder dysfunction |
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Describe Conus Medullaris Syndrome |
Sudden-onset severe back pain Perianal hypo/anesthesia Symmetric motor weakness Hyperreflexia Early-onset bowel and bladder dysfunction |
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MEN Type 1 |
Primary hyperparathyroidism Enteropancreatic tumors Pituitary tumors |
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MEN Type 2A |
Medullary Thyroid Carcinoma Pheochromocytoma Parathyroid hyperplasia |
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MEN Type 2B |
Medullary Thyroid Carcinoma Pheochromocytoma Mucosal/intestinal neuromas Marfanoid habitus |
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Most common kind of thyroid carcinoma |
Papillary |
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Kaposi Sarcoma is caused by |
HHV8
Human Herpes Virus 8 Usually in setting of HIV infection or severe immune suppression |
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Effect of Calcium on QT interval |
Hypocalcemia prolongs Hypercalcemia shortens |
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Abnormality in Wiskott-Aldrich Syndrome |
X-Linked Recessive defect in WAS protein gene Impaired cytoskeleton changes in leukocytes and platelets (leading to thrombocytopenia and immunodeficiency) Eczema, microthrombocytopenia, recurrent infections |
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Abnormality in Hyper-IgM Syndrome |
T- cell lymphocytes lack CD40 ligand and cannot bind CD40 receptor on B Cells. Without CD40 activation, B cells cannot switch the isotope of antibody they produce (from IgM to IgG or IgA) |
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Abnormality in ataxia telangiectasia |
T-cell deficiency associated w/ a defect in DNA repair. In addition to immune dysfunction, patients with AT will experience progressive cerebellar degeneration and at are high risk of cancer. |
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Abnormality in Chronic Granulomatous Disease |
Inability of phagocytes to produce hydrogen peroxide in their lysosomes. Abscesses due to fungi or catalase + bacteria (s. aureus, serratia marcenceans) are the characteristic feature. |
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Abnormality in SCID |
Severe Combined immunodeficiency A variety of gene defects that all prevent IL-7 driven maturation of Tcells in the thymus. Lack of functional T-cells causes severe B-cell dysfunction as well. |
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Meconium ileus is associated with which genetic condition? |
Cystic Fibrosis |
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Predominantly conjugated hyperbilirubinemia w/o hemolysis and normal liver function |
Dubin-Johnson Syndrome More common in Sephardic Jews |
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Elevated conjugated conjugated and unconjugated bilirubin w/o hemolysis and normal liver function |
Rotor Syndrome |
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Unconjugated hyperbilirubinemia, asymptomatic, provoked by stress |
Gilbert's Syndrome |
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Severe unconjugated bilirubinemia, autosomal recessive |
Crigler-Najjar Syndrome Type 1 is more severe. Liver transplant only curative option |
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S & Sx of Acute Angle Closure Glaucoma |
Sudden onset eye pain, headache, nausea Conjunctival erythema, corneal opacification, mid- dilated pupil Diagnose with Gonioscopy (gold standard) or tonometry |
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Chalazion |
Granulomatous condition arising from blocked meibomian gland Rule out Basal cell carcinoma with histopathology |
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Hordeolum |
(Stye) acute infection of gland of eyelids Almost always due to staphylococci |
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Ocular complication of neurofibromatosis 1 |
Optic Glioma |
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Leading cause of blindness in industrialized countries |
Macular Degeneration (earliest sign is distortion of straight lines so they appear wavy) |
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Presents at 3-4 months of age with hypoglycemia, lactic acidosis, hyperuricemia, hyperlipidemia |
Von-Gierkes' Disease Glucose-6-phosphatase deficiency (also, doll like face, small size, enlarged liver and kidneys.. heart and spleen normal) |
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Presents in first few weeks of life as "floppy baby" with feeding difficulties, macroglossia, and heart failure d/t hypertrophic cardiomyopathy |
Acid Maltase Deficiency Pompes' Disease Type 2 Glycogen storage disease |
