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292 Cards in this Set
- Front
- Back
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What Auto-Ab is responsible for Autoimmune hemolytic anemia?
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Anti-RBC
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What Auto-Ab is responsible for Bullous pemphigoid?
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Anti-epidermal basement membrane
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What Auto-Ab is responsible for Type I Diabetes mellitus (insulin-dependent diabetes mellitus?
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Anti-islet cell
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What Auto-Ab is responsible for Pemphigus?
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Anti-keratinocyte junction
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What Auto-Abs are responsible for pernicious anemia?
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Anti-Intrinsic factor, anti-parietal cell
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What Auto-Ab is responsible for Microscopic polyangitis?
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p-ANCA (peri-nuclear-anti-neutrophil cytoplasm)
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What Auto-Ab is responsible for Polymyositis?
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Speckled ANA (anti-nuclear Ab) 20% also have anti-Jo-1
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What Auto-Ab is responsible for Progressive systemic sclerosis scleroderma?
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Anti-Scl 70
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What Auto-Abs are responsible for Sjogren's syndrome?
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Anti-SS A (Anti-Ro) and anti-SS B (Anti-La)
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What Auto-Ab is responsible for Idiopathic thrombocytopenic purpura (adult form)?
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Anti-structural platelet
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What Auto-Ab is responsible for vitiligo?
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Anti-melanocyte
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What are the two forms of Autoimmune hemolytic disease and how do they present?
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Warm Ab and Cold Ab
Warm Ab = severe anemia, splenomegaly, high MCHC (mean corpuscular hemoglobin concentration) Cold Ab = anemia, Raynaud's, acrocyanosis |
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Symptoms associated with Bullous Pemphigoid?
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Bullae, pruritis, elderly
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Symptoms associated with Type I Diabetes mellitus?
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Hyperglycemia, DKA risk (diabetic ketoacidosis), infections
Later: Retinopathy, Nephropathy, Atherosclerosis |
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Symptoms associated with Pemphigus?
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Nikolsky's sign (slight rubbing os skin results in exfoliation of outer-most layer--> blister), oral and skin erosions, older
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Symptoms associated with Pernicious Anemia?
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Megaloblastic anemia, gastritis, Vit B12 deficiency
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Symptoms associated with Polyarteritis nodosa?
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Fever, HTN, abdominal pain, renal disease
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Symptoms associated with microscopic polyangitis?
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Hemoptysis, hematuria, palpable purpura (with glomerulonephritis)
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Symptoms associated with Polymyositis?
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Proximal muscle weakness, elevated muscle enzymes, elevated myoglobin
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Symptoms associated with Progressive systemic sclerosis (scleroderma)?
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Visceral organ fibrosis, facial tightening, sclerodactyly
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Symptoms associated with Sjogren's syndrome?
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Xerostomia (dry mouth), keratoconjunctivitis socca (dry eyes), arthritis
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Symptoms associated with Idiopathic thrombocytopenic purpura - adult form?
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Thrombocytopenia, petechiae and purpura, mucosal bleeding
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Symptoms associated with Vitiligo?
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Hypopigmented areas of skin, white hair in areas of affected skin, sunburn risk
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Symptoms associated with Rheumatoid Arthritis?
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7 Criteria, 4 of which must be present:
Morning stiffness (lasts more than 1 hr), Arthritis in 3 or more joints simultaneously, Arthritis in hand joints, Symmetrical arthritis, Rheumatoid nodules, Serum rheumatoid factor, Erosions or bony decalcifications identifiable on x-ray |
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Symptoms associated with Systemic Lupus Erythematosus (SLE)?
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Malar rash, lupus nephropathy, arthritis
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Symptoms associated with Drug-induced Lupus?
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Arthralgia, Fever, Serositis (inflammed erosal surfaces)
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Symptoms associated with CREST?
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Calcinosis, Raynaud's, Esophageal Dysmotility, Sclerodactyly, Telangiectasia
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Symptoms associated with Myasthenia Gravis?
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Post-use episodic muscle weakness, ptosis, thymus gland pathologies
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Symptoms associated with Grave's Disease?
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Symptomatic hyperthyroidism, Exopthalmos, Pretibial myxedema
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Symptoms associated with Hashimoto's thyroiditis?
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Nontender goiter, typically female, hypothyroidism (becomes symptomatic)
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Symptoms associated with Wegener's Granulomatosis?
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Sinusitis, glomerulonephritis, lung lesions (cavitary)
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Symptoms associated with Celiac Sprue?
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Malabsorption (often with diarrhea), dermatitis herpetiformis (papular vesicular rash with pruritis and burning that presents symetrically on body), short stature
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Symptoms associated with Goodpasture's syndrome?
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Severe glomerulonephritis, pulmonary hemorrhage, dyspnea
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Symptoms associated with Primary biliary cirrhosis?
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Pruritis, female, jaundice
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What Auto-Ab is associated with SLE?
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Anti-nuclear Ab (ANA) for screening; anti-ds DNA for confirmation
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What Auto-Ab is associated with Rheumatoid arthritis?
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Anti-IgG (rheumatoid factor)
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What Auto-Ab is associated with Drug-induced lupus?
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Anti-histone
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What Auto-Ab is associated with CREST?
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Anti-centromere
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What Auto-Ab is associated with Myasthenia Gravis?
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Anti-Ach
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What Auto-Ab is associated with Grave's disease?
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Anti-TSH receptor
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What Auto-Ab is associated withHashimoto's thyroiditis?
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Anti-microsomal
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What Auto-Ab is associated with Wegener's granulomatosis?
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Anti-neutrophil cytoplasm (ANCA)
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What Auto-Ab is associated with Celiac Sprue?
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Anti-gliaden
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What Auto-Ab is associated with Goodpasture's syndrome?
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Anti-glomerular basement membrane (Anti-GBM)
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What Auto-Ab is associated with Primary Biliary Cirrhosis (PBC)
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Anti-mitochondrial
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Define Amyloid
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A beta-pleated sheet of protein
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Define AL Amyloid
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Amyloid Light Chain. The excess light chain (ie portion of immunoglobulin) produced in multiple myeloma and Waldenstrom's
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What is AA Amyloid?
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Amyloid-Associated protein. Associated with Chronic inflamm, Aging
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What is A-beta Protein?
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Amyloid-beta protein. Produced by a gene located on chromo 21. Deposited in brain to cause Alzheimer's Disease
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What is Amyloidosis?
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The manifestation of several different types of diseases which have in common the deposition of amyloid protein. Diseases that cause local deposition of amyloid cause localized amyloidosis, and diseases that cause systemic amyloidosis cause systemic amyloidosis
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Alzheimer's is what type of Amyloidosis, systemic or localized?
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Localized
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Type 1 Hypersensitivity is mediated by what? What are some examples?
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IgE
Exs = pollens, drugs, insect venom, animal dander |
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Type 2 Hypersensitivity is mediated by what? What are some examples?
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Anti-body-mediated Cytotoxicity
Exs = Blood antigens during transfusions, Erythroblastosis fetalis, Rheumatic fever, Hemolytic or thrombolytic drug reactions, Goodpasture's syndrome, SLE, and many more auto-immune diseases |
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Type 3 Hypersensitivity is mediated by what? What are some examples?
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Immune complex deposition
Exs = Arthus reactions (immune complex forms and deposits in body), Serum Sickness, Post-streptococcal glomerulonephritis, Rheumatoid arthritis, SLE |
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T/F: Penicillin can cause Type 1, 2 or 3 Hypersensitivity reactions
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TRUE
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Type 4 Hypersensitivity is mediated by what?
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Cell -mediated
Exs = Delayed Type : poison ivy, nickel, soaps, mycobacterial infection, transplanted tissue T-Cell Mediated Cytoxicity: transplanted or virus-infected cells and tissue, tumor cells |
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Define Hyperacute graft rejection
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Preformed Abs bind antigen on tissue, Occurs in min. to hrs., Type 2 Hypersensitivity
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Define Acute graft rejection
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Memory T cells recognize antigen, CD8s destroy graft vasculature. Occurs in Days to months and is a Type 4 Hypersensitivity.
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Define Chronic Graft Rejection
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Abs develop over time and damage graft vasculature, occurs in months to years and is a type 2 and 3 Hypersensitivity rxn.
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Define Graft vs. Host disease
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When T cells in transplanted tissue attack host. Occurs in days to weeks and is a Type 4 Hypersensitivity rxn
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Whats the oncogene involved in Burkitt Lymphoma?
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c-myc
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Whats the oncogene involved in Chronic Myelogenous Leukemia?
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c-abl
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Whats the oncogene involved in colon carcinoma?
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ras
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Whats the tumor suppressor gene involved in Breast and Ovarian cancer?
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BRCA-1
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Whats the tumor suppressor gene involved in breast, lung colon and lung carcinoma?
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p53
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CEA is a tumor marker for what?
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CEA = carcinoembryonic antigen . For Adenocarcinomas
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Alpha-fetoprotein (AFP) is a tumor marker for what?
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HIGH AFP = Hepatoma, Multiple gestation, neural tube defects, yolk sac tumor/ endodermal sinus disease
LOW AFP = Down's Syndrome |
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PSA is a tumor marker for what?
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PSA = Prostate Specific Antigen (used for screening of prostate cancer and IDing)
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Acid Phosphatase is a tumor marker for what?
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Prostate cancer
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Alakaline Phosphatase is a tumor marker for what things?
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Bone - bone cancer and non-neoplastic disease
Kidneys - Track Renal cell carcinoma Placenta Biliary System - Dx of non-neoplastic disease of the biliary system |
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5'-HIAA (5'-Hydroxyindole acetic acid) is a tumor marker for what?
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Carcinoid
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CA 19-9 is a tumor marker for what?
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Colon, Pancreatic, Breast cancer
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CA 125 is a tumor marker for what?
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Ovarian Cancer
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CD 25 is a marker for what?
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Hairy Cell Leukemia, adult T cell Leukemia
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CD 30 is a marker for what?
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Hodgkin's Disease
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Neuron-specific enolase is a tumor marker for what?
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small cell lung cancer, neuroblastoma
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Human chorionic gonadotropin (beta-hCG) is used to detect what?
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Pregnancy, gestational trophoblastic disease (hydatidiform mole), Choriocarcinoma
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Whats the most common site for bone cancer that has metastasized to the bone to come from?
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Breast
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Whats the most common site for brain cancer that has metastasized to the brain to come from?
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Lung
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Can Autosomal Dominant genetic disorders skip generations?
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No
In Pedigree: 50% healthy, 50% sick |
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Can X-linked genetic disorders pass from a male to a male? X-linked recessive?
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NO
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Define De Novo Mutation
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A new mutation that has just cropped up in a family pedigree.
Parents are healthy but ONE progeny undergoes spontaneous mutation...Usually there will be many offspring of one couple showing that NO ONE ELSE ie the brothers and sisters of this person got the mutation |
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Define Mitochondrial Inheritance
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Based on the fact that all mitochondrial genes are inherited from one's mother. These genes are only transmitted by females, but are transmitted to all of her children - females and males .
Ex = Leber's optic neuropathy = bilateral blindness with onset after 15 years old |
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Whats the most common lethal genetic disease of caucasians?
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Cystic Fibrosis
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Whats the cause of cystic fibrosis?
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Mutation in cystic fibrosis transmembrane conductance regulator gene (CFTR gene) = defect in chloride trans-membrane movement in epi cells --> meconium ileus, viscous mucus, recurrent respiratory infections, high NaCl, chronic pancreatitis, cholelithiasis, malnutrition (due to poor bowel function)
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Define Phenylketonuria
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Unable to metabolize phenylalanine --> phenylalanine buildup of break down products and inability to make melanin, Norepi and Dopamine --> Neurotoxocity from buildup of break down products
Lighter complexion will be seen because of decreased melanin synthesis |
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Whats the underlying cause of Albinism?
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inability to make Melanin
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Whats the patholgy of Alpha-1-Antitrypsin Deficiency?
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Alpha-1-Antitrypsin normally functions to inhibit Elastase. Liver makes it, but is unable to release it --> Liver Cirrhosis (destruction) --> Elastase destroys lung --> Emphysema
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What causes Thalassemia, Sickle Cell Anemia?
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Abnormally structured Hemoglobin --> RBC Defects that cause RBC destruction
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Whats the pathology associated with Glycogen Storage Diseases?
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Inability to use Glycogen Normally (Glycogen is a storage form of Glucose)
Exs = von Gierke disease, Pompe disease, McArdle disease |
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What is Mucopolysaccharidoses?
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A lysosomal Storage disease = unable to metabolize glycosaminoglycans (mucopolysaccharides, GAGs) = critical component of connective tissue
3 Types: Hurler, Scheie, Hunter (Hunter is X-linked recessive) |
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What are Sphingolipidoses?
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A type of lysosomal storage disease = unable to metabolize sphingolipids, molecules typically involved with myelin and CNS
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Are Penicillins bacteristatic or bactericidial?
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Bactericidal - interfere with cell wall synth in 3 ways: Penicilin Binding Proteins, Penicillins inhibit transpeptidases, and Penicillins stimulate Autolysins
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What are the narrow spectrum Penicillins that generally need to be used at higher doses to achieve therapeutic effect?
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Pen G and V
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Why is Methicillin rarely used?
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Its toxicity
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What drug do we use for Cellulitis skin infections?
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Dicloxacillin
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How is Nafcillin eliminated?
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Biliary
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What do we use Flucloxacillin for?
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Serious Skin infections
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What bact. do Third Gen Penicillins target?
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Gram Neg AND pos.
Mixed with beta-lactamase inhibitors so that they won't fall victim to any bact. that have beta lactamase Ex = Ampicillin |
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DOC for Listeria species like Listeria monocytogenes which causes sepsis and meningitis, particularly in neonates?
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Ampicillin
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A pt with a cardiac dysfunction is undergoing a dental procedure that will disrupt the gingival and oral mucosa. What drug do we give for prophylaxis?
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Amoxicillin
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Which Penicillins are good at taking care of Pseudomonas aeruginosa infections?
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Extended Spectrum Penicillins. Ex. = Carbenicillin, Piperacillin, Ticarcillin
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A pt has a pseudomonas infection. What two drugs do we need to treat it?
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antipseudomonal Penicillin (=extended spectrum pen) PLUS either Aminoglycoside (tobramycin) or Ciprofloxacin
NEVER is pseudomonas treated with just one drug |
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Why can't all Penicillins treat gram negative infections?
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Gram negatives don't allow them in. Some bact. have porins in outer membrane that CAN allow some pens in
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Why do some bact. have beta lactamase and others of same species don't?
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Some bact. have the gene for it, some don't. The gene is acquired if the bact. acquires a plasmid (small circular piece of DNA apart from the genome) containing that gene from another bact.
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What are some of the side effects we can see with Penicillins
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Allergy (so look into this if pt presents with anaphylactic shock), Angioedema (swelling of lips, tongue, periorbital areas), maculopapular rash, diarrhea, nephritis, neurotoxicity with seizures
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How are ALL Penicillins excreted Except for Nafcillin?
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Renally (Nafcillin = Biliary)
So use caution when using in pts with renal disease |
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Can Penicillins cross the placenta?
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YES, but they are not teratogenic
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Your pt cannot take penicillin. What do you give them instead?
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Erythromycin
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What are the two major etiologic agents for lobar pneumonia?
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Strep. pneumoniae
Klebsiella pneumoniae |
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Name the four types of lung carcinoma
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Adenocarcinoma
Squamous cell carcinoma Small cell carcinoma Large cell carcinoma |
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Hematuria and RBC casts are usually indicative of what type of general classification of glomerulonephritis?
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Nephritic
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What is the most common nephrotic syndrome in children?
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minimal change disease
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What are the three components of the staghorn renal calculus? Is it a result of infectious agents, cancer, or gout?
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Mg, NH4 (ammonia), Phosphate
Its a result of infectious agents |
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What is the causative agent of syphilis? What is the drug of choice for the treatment of syphilis?
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Causative agent = Treponema pallidum
DOC = Pen G |
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Which type of testicular germ cell tumor is characterized by very high production of AFP? Which type of ovarian germ cell tumor shares the same characteristics?
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High AFP production = Testicular = Yolk sac
Ovarian Endodermal Sinuses share the same characteristics |
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What type of ovarian tumor is characterized by cysts lined with ciliated epi?
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Serous
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What are the 5 major risk factors for endometrial carcinoma?
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Over 40 years old, Early menarche, Late menopause, Obesity, Null parity
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What are the 5 major risk factors for breast cancer?
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Over 40 years old, Early menarche, Late menopause, Obesity, Null parity
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Koplik's spots in the mouth indicate what disease?
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Measles
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What type of esophageal diverticulum involves all layers of the esophagus?
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True diverticula
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What type of esophageal diverticulum involves only the mucosal layer?
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False diverticula
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What do cloxacillin, oxacillin, and methicillin have in common with respect to their particularly good ability to destroy certain pathogens?
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Beta-lactamase resistance
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What generation of cephalosporins are cefamandole and cefoxitin?
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2nd Gen.
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What type of gastritis does Helicobacter pylori cause, and why must it be treated as soon as possible?
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Causes Type B, and has associated risk of cancer
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What is the risk of developing colon cancer if one has familial polyposis?
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Almost 100%
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What is the risk of developing colon cancer if one has Gardener's disease?
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Almost 100%
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If a patient presents with lots of abdominal pain, very little or no blood in the stool, and skip lesions of the ileum on radiographic inquiry, from what disease would they be most likely suffering?
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Crohn's disease
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What are the 3 components of Charcot's triad? What does Charcot's triad indicate in terms of abdominal disease?
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3 components = Fever, R. Upper quadrant pain, Jaundice
It indicates Cholangitis in terms of abdominal disease |
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What is the classification of jaundice if there is high serum unconjugated bili? High serum conjugated bili? High unconjugated and conjugated bili?
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High Unconjugated = Pre-hapatic
High Conjugated bili = Post-hepatic High Conjugated AND Unconjugated bili = Hepatic |
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Compare the transmission routes and incubation times of Hep A and Hep B
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Hep A = transmission fecal-oral, Incubation 2-6 weeks
Hep B = transmission parenteral, Incubation 2-6 months |
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If a pts. blood tests indicate she is positive for anti-HBsAg, does that mean that she is currently suffering from an active Hep B infection?
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No
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If a pt presents with cirrhosis, new onset diabetes mellitus, and a bronze skin pigmentation, what disorder would top your list of differential diagnoses?
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Hemochromatosis
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Compare osteoarthritis and rheumatoid arthritis in terms of which finger joints each are more likely to affect
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Osteoarthritis = DIP
Rheumatoid Arthritis = MCP, PIP |
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Explain the Rule of Threes relevant to thoracic vertebrae
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T1-3 (and T12) = Spinous process at same level as transverse process
T4-6 (and T11)= Spinous process half way between their own transverse process and the transverse process of the vertebra below T7-9 (and T10)= Spinous process at same level of transverse process of vertebra below |
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What are the false ribs?
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8-12
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What is the primary motion of the thoracic spine?
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Rotation
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What ribs primarily move with the pump-handle motion? Bucket Handle motion? Caliper Motion?
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Pump Handle = 1-5
Bucket Handle = 6-10 Caliper Motion = 11-12 |
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Name the attachments of the diaphragm
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Bodies and Disks of L1-3, Xiphoid process, Ribs 6-12 Bilaterally
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In an inhalation dysfunction, what is the key rib?
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The Lowest rib
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Prostaglandins and Bradykinins share what common feature in terms of their effect on how we feel when we get sick or injured?
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Pain and Vasodilation
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What cell type produces IL-1 and what cell type does IL-1 stimulate?
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Macrophages produce IL-1 and IL-1 stimulates CD4 T cell
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What inheritance pattern exists for a particular disease if there is no male-to-male transmission and the parents of the sick child are not sick?
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X-linked recessive
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What HLA type do most with multiple sclerosis and narcolepsy share?
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DR-2
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What are the VDRL and FTA-ABS test results for an SLE patient? Why?
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VDRL = Positive. Tests for cardiolipin Abs
FTA-ABS = Negative. Tests for T. Pallidum presence, which is the causative agent of syphillis |
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What clotting pathway does PTT test? PT? Bleeding Time?
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PTT = Intrisic and Common
PT = Extrinsic and Common Bleeding Time = Platelet Function |
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What does the Coombs test evaluate?
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Anti-RBC Abs
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What specific type of macromolecule is reliant on folic acid and vitamin B12 for its synthesis and How is this related to anemia?
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DNA needs B12 and folic acid. Without it, we get megaloblastic anemia
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Auer rods in myeloblasts is evidence of what myeloproliferative disorder?
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AML
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Are aminoglycosides most effective against gram-positives, gram negatives, or both?
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Gram neg.
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What type of arterial inflamm is associated with hypersensitivity to tobacco?
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Thromboangitis Obliterate AKA Burger's disease
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What disease do blue bloaters have? Is it an obstructive or restrictive lung disease?
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They have Chronic Bronchitis, which is an obstructive lung disease
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Name the drugs that are P450 Inducers
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Sulfonamides, Phenylbutazone, Chloramphenicol, Isoniazid, Dikumerol, Cimetidine
"Some Pharmaceutical Classes Inhibit Drug Catabolism" |
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What is the antidote for methanol poisoning?
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Ethanol
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What is the DOC for Strep. pyogenes? Borrelia burgdorferi?
|
Strep. pyogenes = Pen G
Borrelia burgdorferi = Doxycycline |
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In what plane does flexion occur? About what axis does it occur?
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Plane = Sagital
Axis = Transverse |
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What cell type is classic in Hodgkin's disease?
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Reed-Sternberg cell
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What type of arteriosclerosis is due to high serum calcium? Due to Malignant HTN? Due to old age? Due to high lipid diet?
|
high serum calcium = Monkeberg's
Due to Malignant HTN = Hyperplastic Ateriolosclerosis Due to old age = Hyaline Arteriolosclerosis Due to high lipid diet = Atherosclerosis |
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If a 3 year old Japanese boy presents with very red hands and soles of the feet, fever and conjunctivitis, what arteritis does he likely have?
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Kawasaki
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If the atlas is sidebent left, to what direction is it rotated?
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Right
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If C5 is more easily translated to the left when flexed, and there is equal translation right and left when in neutral and not as equal bilateral translation in extension, what is the dysfunction? What is the restriction?
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Dysfunction = C5NRRSR
Restriction = C5FRLSL |
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What are the most common body parts affected by Lupus?
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Skin, CNS, Kidneys, Joints
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What Hypersensitivity rxns are involved in Lupus?
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Types II and III
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What Ab's are responsible for Lupus?
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ANA (sensitive...so good for screening but not for Dx), Anti-ds DNA (specific test used for Dx) or Anti-Smith (specific, so used for Dx.
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Whats the preferred test fr Lupus Dx?
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Anti-ds DNA (more specific than Anti-smith test)
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What type of bact. can 1st Gen. penicillins treat?
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Gram pos.
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What Gen Penicillins can treat Beta-lactamase resistant bact.?
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Gen 2
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T/F: We treat Pseudomonas with at least 2 drugs
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TRUE. Anti-pseudomonal pen (ie extended spectrum pen) PLUS aminoglycoside or Ciprofloxacin
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The 3rd Gen Penicillins treat what?
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Gram positives AND gram negatives
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What Gen of Pens and Cephs can treat Pseudomonas?
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4th gen of both penicillins and cephalosporins
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What Gram neg's can 1st Gen. Cephs treat?
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"PEcK"
Proteus, E. Coli, Klebsiella Plus Gram positives |
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A pt has a skin infection. Which do we pick on boards? Cefazolin or Dicloxacin?
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Cefazolin, b/c its a Cephalosporin and is more effective than the Penicilin, Dicloxacin
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What Gram Neg's can 2nd Gen. Cephs treat?
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"HENPEcK"
Haemophilus influenza, Enterobacter aerogenes, Neisseria, Proteus, E. coli, Klebsiella They'll also treat Gram Positives |
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What Gram Neg's can Gen. 3 Cephs treat?
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"HENPEcK + Enterics"
Haemophilus influenzae, Enterobacter aerogenes, Neisseria, Proteus, E. coli, Klebsiella AND Enterics ie intestinal bacteria Plus Gram Positives |
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Which Gen Cephalosporin do we use to treat Pseudomonas aeruginosa?
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4th Gen - Cefepime and Cefpirome = "Pseudomonas Insults"
cefePIme cefPIrome (BUT Ceftazidime, a 3rd gen, is effective against it too) |
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What are the Second Gen cephs?
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All have a gender related issue in name:
CefaMANdole ceFOXitin (good for anaerobes, ie pelvic inflamm disease or intra-abdominal infections) ceFURoxime (crosses BBB) cefoTETan |
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Which Second Gen Ceph do we need to tell pts NOT To drink alcohol with?
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CefaMANdole = inhibits alcohol dehydrogenase in a disulfiram-like reaction
Alcohol is metabolized by P450 |
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What are the 3rd Gen Cephs?
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"Tough Assassins"
cefTAzidime cefoTAxime cefTriAxone |
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Which 3rd Gen Ceph is excreted via the bile instead of renally?
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CefTriAxone
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Whats the cause of Hemophilia A?
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Lack of Factor 8
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Whats the cause of Hemophilia B?
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Lack of Factor 9
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Define Glucose-6-Phosphate Dehydrogenase deficiency
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Lack of G6PD means that the pt can't adequately eradicate radical oxygen species, especially in RBCs
Leads to Hemolysis |
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Define Fragile X Syndrome
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Structural defects in X chromo
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Pt presents with Large ears, Jaw and Ball Sack. What do they have?
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Fragile X syndrome.
Occurs in males, bilateral macroordism 50% have Mental Retardation. Triple repeat of CGG causes all the problems |
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Define Fabry Diseaes. How is it different from all the other Sphingolipidoses?
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A type of Sphingolipidoses (lipid storage disorder)
Dif. b/c: its X-linked recessive and does NOT have CNS symptoms associated with it |
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A pt has decreased alpha-galactosidase A and angiokeratomas (warts with telangiectasias) and renal failure. Dx?
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Fabry disease
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Define Lesch-Nyhan Syndrome
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Deficiency in hypoxanthine-guanine phosphoribosyltransferase (HGPRT) --> leads to Uric Acid production --> leads to self mutilation as uric acid builds up in brain
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Define Duchenne muscular dystrophy
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Lack of Dystrophin = necessary for normal muscle tone/function
Maked by very high creatine kinase and proximal muscle weakness --> atrophy |
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Whats a less severe type of Duchenne's muscular dystrophy?
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Becker muscular dystrophy
= decreased levels of Dystrophin |
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Pt has low or absent MATURE B cells and thus recurrent bact. infection
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Bruton's agammaglobulinemia
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Whats the classic triad associated with Wiskott-Aldrich Syndrome?
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Otitis media, eczema, thrombocytopenia
Associated with IgM dysfunction |
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Why do granulomas form with chronic granulomatous disease?
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Neutrophils and macrophages are unable to eradicate the foreign substance = multiple granuloma formation
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Whats the only mucopolysaccharidosis that's X-linked recessive and marked by mental retardation and normal corneas?
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Hunter's disease = can't break down sugars needed to build bone, cartilage, tendons, skin, corneas, CT
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Whats the chromo deletion that leads to Cri du Chat?
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5p
High-pitched cat-like cry, microcephaly, mental retardation |
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Whats the chromo deletion that leads to Retinoblastoma?
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13q
Malignant retinal tumor of childhood |
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Prader Willi syndrome and Angelman Syndrome both involve mutation of what?
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chromo 15 (15q11-13)
They differ in what portion of chromo 15 is deleted: Maternal chromo 15 deletion = Angelman Syndrome Paternal chromo 15 deletion = Prader Willi Syndrome |
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Symptoms of Prader Willi and Angelman syndromes?
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Prader Willi (Paternally-derived chromo 15 deletion) = Hypotonicity as infant, Obesity, Mental Retardation
Angelman = Lots of Smiles!, Wide gait and Ataxia, Mental Retardation, Inappropriate Laughter |
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HLA A3 predisposes to what disease?
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"A 3-Iron"
Hemochromatosis (=excessive iron absorption) Bronze skin, diabetes, cirrhosis, cardiomyopathy maybe |
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HLA B27 predisposes to what diseases?
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Akylosing spondylitis, Reactive Arthritis (Reiter's Syndrome), Psoriatic Arthritis
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Symptoms of: Akylosing spondylitis, Reactive Arthritis (Reiter's Syndrome), Psoriatic Arthritis
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Akylosing spondylitis = Sacroiliitis, bamboo spine, uveitis
Reactive Arthritis (Reiter's Syndrome) = Conjunctivitis, urethritis, arthritis Psoriatic Arthritis = Psoriasis, Rheumatoid arthritis like symptoms, no rheumatoid factor |
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DR-2 HLA predisposes to what diseases?
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Narcolepsy, Multiple Sclerosis, Type 1 Diabetes (insulin-dependent)
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Symptoms of Narcolepsy, Multiple Sclerosis, Type 1 Diabetes?
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Narcolepsy = sleep attacks, cataplexy (loss of voluntary ctrl), sleep paralysis
Multiple Sclerosis = Nystagmus, scanning speech (loss of motor ctrl of muscles of speech), intention tremor Type 1 Diabetes = Hyperglycemia, risk of Diabetic ketoacidosis, retinopathy, nephropathy, atherosclerosis |
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DR-3 HLA predisposes to What diseases?
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"DR-3, SLE, Give the Insulin to Me"
SLE, Type 1 Diabetes, Celiac disease |
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Symptoms of SLE, Type 1 Diabetes, Celiac disease
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SLE = malar rash, nephropathy, arthritis
Type 1 Diabetes = Hyperglycemia, risk of Diabetic ketoacidosis, retinopathy, nephropathy, atherosclerosis Celiac disease - malabsorption, gluten-sensitivity, steatorrhea |
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DR-4, Dw4, and Dw14 HLA predisposes to what diseases?
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Rheumatoid Arthritis
Juvenile Rheumatoid Arthritis 4 Criteria needed for RA Dx: DR-4, Dw4, Dw14 |
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Most common cause of Amenorrhea?
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Pregnancy
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Most common cause of Pancreatitis?
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Alc. Abuse
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Most common cause of Anemia?
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Iron deficiency
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Most common cause of Nephrotic Syndrome?
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Children: minimal change disease
Adults: Membraneous glomerulonephritis |
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Most common cause of Osteomyelitis?
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Staph aureus (in diabetics and sickle cell pts, most common causes are salmonella, in IV drug users is Serratia and Pseudomonas auruginosa
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Most common cause of Constipation?
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Dehydration
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Most common cause of Kidney Stones?
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Dehydration
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Most common cause of Pneumonia?
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Strep. pneumoniae
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Most common cause of Ascites?
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Alcoholic cirrhosis
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Most common cause of Death
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Heart disease (in US)
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Most common cause of Male Pseudohermaphrodism?
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Testicular feminization
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Most common cause of Female Pseudohermaphrodism?
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Adrenogenital syndrome (congenital adrenal hyperplasia)
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Most common cause of Calf claudication?
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Peripheral vascular disease (PVD)
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Most common cause of Left-sided heart failure?
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Coronary artery disease (CAD)
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Most common cause of Atherosclerosis?
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Elevated LDL
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Most common cause of DVT?
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Blood stasis (esp in late pregnancy and after Sx or prolonged immobility)
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Most common cause of Wheezing?
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Asthma
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Most common cause of A cold in fall/winter?
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Rhinovirus
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Most common cause of A cold in spring/summer?
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Adenovirus
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Most common cause of Bronchiectasis?
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Cystic Fibrosis
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Most common cause of Pleural effusion?
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CHF
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Most common cause of Pulmonary Edema?
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CHF
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Most common cause of Septic Shock?
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Gram neg. bact.
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Most common cause of Poisoning in US?
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carbon monoxide
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Most common cause of Iron deficiency at 50 years of age?
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Colon Cancer
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Most common cause of vomiting?
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Viral infection
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Most common cause of Hematemesis?
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Duodenal ulcer
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Most common cause of Hematochezia?
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Diverticulosis
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Most common cause of Melena?
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Duodenal ulcer
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Most common cause of Acute RLQ pain?
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Appendicitis
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Most common cause of Acute infectious diarrhea?
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Norovirus
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Most common cause of small bowel obstruction?
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adhesions
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Most common cause of Erectile Dysfunction?
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Diabetes
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Most common cause of Hyperthyroidism?
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Grave's disease
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Most common cause of Hypothyroidism?
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Hashimoto's disease
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Most common cause of Yellow CSF (=xanthochromia)?
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Bleed in CNS
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Most common cause of Acute onset coma?
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Poisoning or drug Over-dose
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Most common cause of Blindness in elderly?
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Macular degeneration
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Most common cause of Tremor?
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Essential tremor
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Most common cause of Dementia?
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Alzheimer's disease
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Most common cause of Psychosis?
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Depression
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Most common cause of Headache?
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Tension Headache
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SLE affects which of the following populations the most:
White caucasian While male Black male Black Female |
Black Female
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Describe the 4 Nephropathies that occur with SLE
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1. Mesangial Disease - class II - proliferation of mesangial matrix
2. Focal Proliferative disease - class III - mesangial and endo cells proliferate 3. Diffuse Proliferative Nephritis - class IV - mesangial, endo, and epi cells proliferate 4. Membraneous Glomerulonephropathy - class V - |
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CREST stands for?
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Calcinosis, Raynaud's, Esophageal dysmotility, Sclerodactyly, Telangiectasia
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How does CREST differ from Progressive Systemic Sclerosis?
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CREST is focal scerlosis, progressive systemic sclerosis is systemic (ie internal organs affected, etc)
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What are the 4 classes of immunodeficiency disorders?
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Phagocyte disorders, Humoral immunity disorders, Cell-mediated immunity disorders, Combined B Cell and T cell disorders
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What is Job's Syndrome?
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Phagocyte disorder - deficient gamma-interferon = sinopulmonary infections, candidiasis, cold abcesses
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What is Chediak-Higashi Syndrome?
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Phagocyte disorder - Impaired microtubules = limit WBC movement and use of granules = Bact./viral infections, partial albinism
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What is chronic granulomatous disease?
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Phagocyte disorder - Deficient NADPH Oxidase = impaired respiratory burst = granulomas, recurrent bact./fungal infections, yellow NBT Test (=abnormal Respiratory burst)
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Define Brunton's agammaglobulinemia
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Humoral Immunity Disorder: No Mature B cells = recurrent severe pyogenic infections, severely low amt. of Abs
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Define IgA deficiency
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Humoral Immunity Disorder: : IgA producing plasma cells fail to develop = Bact. infections of mucus membranes, possible anaphylaxis to transfused blood, reduced levels of IgA
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Define Common Variable Immunodeficiency
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Humoral Immunity Disorder: Abnormal B cell maturation = Recurent pyogenic bact. infections, normal Number of B cells, decreased levels of Abs
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Define DiGeorge Syndrome
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Cell-mediated immunity disorder: Defect in 3rd and 4th pharyngeal pouches = thymus and parathyroids don't develop = Deficits in T cells = recurrent viral, fungal, protozoal infections. Tetany, Hypocalcemia
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Define Chronic Mucocutaneous Candidiasis
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Cell-mediated immunity disorder: Inability of T cells to destroy Candida albicans = chronic candidiasis, normal T cell numbers
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Define Hyper IgM syndrome
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Cell-mediated immunity disorder: Inability of B cells to switch from IgM to IgG = severe recurrent pyogenic infections
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Define Severe Combined Immunodeficiency Syndrome (SCID)
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Can occur for a lot of reasons:
1. IL-2 receptor defect on CD4/CD8 cells 2. T cell secondary messenger system defect 3. Defect in T cell ability to interact with APCs 4. Absence of adenosine deaminase = inc. dATP and dec. DNA production= T and B cell production dec. 5. Defective class I and or II MHC = bact./viral/protozoal infetions, Low Abs, No lymph nodes, Pneumocystis pneumonia infections |
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Define Wiskott-Aldrich Syndrome
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Combined B cell disorder:
B cells not stimulated to produce IgM = bact. infections (esp otitis media), eczema, thrombocytopenia, Low IgM |
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Define Ataxia-telangiectasia
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T and B cell disorder:
Dificient DNA repair enzymes = T cell and B cell deficiencies = Ataxia, telagiectasia, recurrent infections (esp of pulmonary regions), inc. malignancy risk, Low T cell numbers, significant IgA deficiency |
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MOA of Amantadine?
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Impairs un-coating (so that the virus can't release its nucleic acid within the cell)
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Use of Amantidine?
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Influenza (BUT only if used in the first 48 hrs)
HOWEVER they are rarely used for influenza anymore because resistance has developed |
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MOA of Interferon?
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Induces host cell responses that inhibit viral RNA translation and induce MHC-1 expression, increasing the bodies' sensitivity towards and ability to eradicate virally infected cells.
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What is Interferon used for?
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DOC for: Chronic HBV and HCV (with Ribavirin) infections.
Used to treat: Hairy cell Leukemia (pegylated form is most commonly used) |
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MOA Ribavirin?
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Sequentially phosphorylated to become ribavirin triphosphate = looks like Guanosine, a DNA/RNA building block... --> gets involved with transcription, blocking viral mRNA synth.
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Use of Ribavirin?
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DOC for Chronic HCV (used with Ribavirin)
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MOA Acyclovir?
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Sequentially phosphorylated to become acyclovir triphosphate = looks like Guanosine used to build DNA/RNA --> incorporated into DNA = inhibition of DNA polymerase and premature DNA chain termination in virus.
Viral Thymidine Kinase must be present |
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Use of Acyclovir?
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Selective only for HSV-1, HSV-2, VZV (varicella), EBV = all these viruses contain thymidine kinase = necessary for Acyclovir to work.
Penetrates BBB DOC HSV-1, HSV-2 |
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MOA of Vidarabine?
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Sequential phosphorylation to imitate adenosine triphosphate (ATP). Incorporated into DNA, inhibiting DNA synth.
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Use of Vidarabine?
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Herpes (esp herpes encephalitis) and VZV (chicken pox or herpes zoster) in immunocompromised pts.
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MOA of Gancyclovir?
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Similar to acyclovir, except viral thymidine kinase is not req'd for phosphorylation. Bone marrow suppression is a common side effect --> neutropenia or aplastic anemia
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MOA of AZT?
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AZT = Zidovudine. Antiretroviral Drug. Triphosphorylated by human thymidine kinase --> becomes TTP analog. Inhibits viral DNA synth after being incorporated into the growing viral DNA chain
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Use of AZT?
|
HIV
Good BBB penetration Belongs to the class of NRTI's = inhibit DNA synth |
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MOA of protease inhibitors? What drugs constitute the protease inhibitors?
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Inhibit cleavage of the "giant" protein that HIV must cut apart to have functional components of that protein.
Protease Inhibitors = "navirs" = Saquinavir, Ritonavir, Indinavir, Nelfinavir, Fosamprenavir |
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MOA of Non-nucleoside reverse transcriptase inhibitors (NNRTIs)?
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Directly inhibit reverse transcriptase
Used for HIV, the NNRTs = Nevirapine, Delavirdine, Efavirenz |
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MOA of Fusion Inhibitors?
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Prevent fusion between HIV virion and cell. Drug binds the gp41 and prevents viral fusion with cell's cell membrane, thereby preventing entry into the cell.
Drug of this class = Enfuvirtide = increases risk for bact. pneumonia |
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Side Effects of Enfuvirtide, used for HIV?
|
Insomnia, Headache, Nausea. Severe Hypersensitivity reactions are possible
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MOA of integrase inhibitors?
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Inhibit HIV viral integrase system - prevent integration and insertion of HIV DNA into human DNA.
Raltegravir |
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MOA of chemokine co-receptor antagonists (CCR5 Antagonists)?
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Block the CCR5 co-receptor located on WBCs targeted by HIV = prevent entry of virus into cell
Maraviroc |
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Maraviroc, a chemokine co-receptor antagonist, is used for what?
|
HIV-1
Hepatotoxic |
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MOA of Neuraminidase Inhibitors?
|
Inhibit influenza virus neuraminidase.
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Use of Neuraminidase Inhibitors?
|
Influenza A and B
"-mivir" = Zanamivir (SE = bronchoospasm = don't use is pts with lung disease) and Oseltamivir |
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MOA of Foscarnet?
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Direct inhibitor of both DNA polymerase and reverse transcriptase. Used for CMV as alternative to gnagcyclovir, and in gangcyclovir-resistant VZV and HSV. Effective against HIV.
Nephrotoxic |
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Use of Valganciclovir?
|
Used in combo with ganciclovir for treatment of CMV .
May cause bone marrow depression |
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MOA of Trifluridine?
|
Mimics TTP to be incorporated into viral DNA and thus inhibit viral DNA synth. Does not require viral Thymidine kinase to become phosphorylated (active).
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Use of Trifluridine?
|
HSV and other thymase-deficient mutants of herpes that are resistant to acyclovir
DOC herpes keratitis (=herpes of the eye) |
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MOA of Cidofovir?
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Suppresses viral replication by selective inhibition of viral DNA synth.
Teratogenic, Extremely Nephrotoxic, can cause Fanconi Syndrome |
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Use of Cidofovir?
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Alternative treatment for CMV retinitis, DOC for smallpox and severe adenovirus infections
Generally administered with probenacid to minimize dose while maximizing systemic antiviral effect |
