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643 Cards in this Set
- Front
- Back
Causes of chronic blood loss?
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Menstraution, pregnancy, GI bleeding
|
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Microcytic hypochromic anemia? (3)
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1. Chronic blood loss
2. Fe deficiency anemia 3. Beta thalassemia minor |
|
Characteristics of hemolytic anemias? (4)
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1. Increase RBC destruction
2. Retention of RBC products (hemosiderosis) 3. Hypercellularity of BM (Increased EPO) 4. Extramedullary hematopoeisis |
|
Hemolytic Anemias (6)
|
1. Hereditary spherocytosis
2. Sickle cell anemia 3. Thalassemias 4. G6PD Deficiency 5. Immunohemolytic anemia 6. Erythroblastosis Fetalis |
|
Anemias of diminished erythropoiesis? (30
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1. Iron deficiency anemia
2. Megaloblastic anemias (Folate & Vit B12 deficiency) 3. Aplastic anemia |
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Inherited anemias? (4)
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1. Hereditary spherocytosis- Dominant
2. Sickle cell- Codominant 3. Thalassemias- Codominant 4. G6PD Deficiency- X chromosome? |
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Severe decrease in neutrophils w/ WBC total <1000
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Agranulocytosis
|
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Infectious mononucleosis caused by?
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EBV (Herpes)
|
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Infectious mono is what type of disease?
|
Reactive leukocytosis (Increase WBC count)
|
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Positive heterophile reaction is diagnostic for what disease?
|
Infectious mono
|
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Site of origin of lymphomas?
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Lymph nodes, spleen, lymphoid organs
|
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Proliferation of what cell type in lymphomas?
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Lymphocytes, histocytes
|
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Non-Hodgkin Lymphoma usually start in which tissue & what cell origin?
|
Non-Hodgkin Lymphoma = Lymph nodes & B cell origin
|
|
Starry-sky pattern seen in?
|
Burkitt Lymphoma (NHL)
*Most rapidly growing cancer *Head & neck cancer |
|
Reed-Sternberg cell (owl eyes) is diagnostic for which disease?
|
Hodgkin Lymphoma
|
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Most common Hodgkin lymphoma?
|
Nodular sclerosis
*Commen in women *Best prognosis of hodgkin lymphomas |
|
Site of origin of leukemias? & Cell types?
|
Leukemia
Site of origin= Bone marrow Cells= hematopoietic stem cells (granulocytes, lymphocytes) |
|
What is the most common leukemia?
|
Acute lymphoblastic leukemia
(Precursor B-cell Lymphoblastic Leukemia) |
|
Philadelphia crhomosome seen in pts w/ what disease?
|
Chronic Myelogenous Leukemia
|
|
Clinical Manifestations of acute leukemias?
|
1. Anemia (pancytopenia- low RBC & WBC)
2. Infections (Leukopenia) 3. Bleeding problems (thrombocytopenia) |
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Most common plasma cell dyscrasia?
|
Multiple myeloma
|
|
Punched out lesions radiographically?
|
Multiple myeloma
|
|
Bence-Jones proteins (abnormal Ab spilled in urine)
|
Multiple myeloma
|
|
Scurvy is an example of a disease that causes bleeding disorder due to?
|
Increased fragility of blood vessels --> NOT a problem w/ platelets or coagulation
|
|
Dcreased number of platelets?
|
Thrombocytopenia (< 100,000)
*Spontaneous & excessive bleeding *Prolonged bleeding time *NORMAL coagulation times |
|
What is immune thrombocytopenia purpura?
|
Autoimmune disease w/ IgG anti-platelet Abs
|
|
DELAYED onset of beeding is characteristic of which disease?
|
VW Disease
*Dominant *Prolonged PTT time, normal coagulation |
|
Spontaneous bleeding is characteristic of which type of bleeding disorder?
|
Platelet deficiency or dysfunction
|
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MASSIVE HEMORRHAGE due to trauma/surgery & ABSENCE OF SPONTANEOUS bleeding?
|
Hemophilia
*X-linked recessive *Prolonged partial thromboplastin time |
|
What is the mechanism of Coumadin?
|
INDIRECT acting anticoagulant
*Competitvely INHIBITS VIT K * Decreased synthesis of II, VII, IX & X *Prolonged PT test *Don't treat > 3.5 INR |
|
Mechanism of Aspirin?
|
IRREVERSIBLY binds platelets
*INHIBITS synthesis of TXA2 |
|
Mechanism of Ibuprofen?
|
REVERSIBLY binds platelets
(Inhibts syntehsis of TXA2) |
|
Which analgesic is often prescribed because it is not associated w/ bleeding problems?
|
Acetominophen
|
|
Ranking of acquired risk factors for atherosclerosis? (4)
|
1. Hyperlipidemia
2. Hypertension 3. Smoking 4. Diabetes |
|
Sites of predilection of atherosclerosis (6)
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1. Lower abdominal aorta
2. Coronary arteries 3. Popliteal arteries 4. Descending thoracic aorta 5. Internal carotid arteries 6. Circle of willis |
|
Vasculitis syndromes w/ head & neck manifestations? (3)
|
1. Wegener granulomatosis
2. Giant cell arteritis 3. Kawasaki disease NOT: -Polyarteritis nodosa -Thromboangitis obliterans |
|
Classic triad of ???
NECROSIS of: 1. Upper &/or lower resp tract 2. Small arteries & veins 3. Glomerulonephritis |
Wegener granulomatosis
*c-ANCA *granulomatous inflammation |
|
Disease seen in young men smokers w/ hypersensitivity rxn to cig smoke producing severe pain in extremities w/ gangrene?
|
Thromboangitis obliterans
|
|
Congenital aneurysm due to developmental weakness of vessel wall?
|
Berry aneurysm-- Circle of willis
|
|
Atherosclerotic aneurysm occurs where?
|
Abdominal aorta
|
|
Tree barking of intima of aorta occurs in?
|
Syphilitic aneurysm (thoracic aorta)
Tertiary syphillis |
|
Most important contributing factor to aortic dissection?
|
Hypertension --> tear in intima due to blunt trauma (Thoracic aorta)
|
|
Systemic hypertension is defined as?
|
BP > 140/90
|
|
Formula... BP =?
|
Blood pressure =
Cardiac output x Peripherial resistance |
|
Hyaline arteriolosclerosis & hyperplastic arteriolosclerosis go w/ which clinic pattern of hypertension?
|
Hyaline -- Benign hypertension
Hyperplastic -- Malignant hypertension |
|
Masses of endothelial lined vascular channels filled w/ blood?
|
hemiangiomas
(hamartomas --> developmental) |
|
Kaposi sarcoma is associated w/ which HHV?
|
HHV 8
|
|
Loss of lung volume due to inadequate expansion of air spaces? (4)
|
Atelectasis
1. Resorption- obstruction 2. Compression-accumulations cause collapse 3. Microatelectasis- Never inflated 4. Contraction-fibrosis |
|
What are the obstructive lung diseases? (4)
|
Limitation of airflow to due increased resistance
1. Asthma- COPD 2. Emphysema 3. Chronic bronchitis 4. Bronchiectasis |
|
What are the restrictive lung diseases? (1)
|
Reduced expansion & total lung capacity
1. Sarcoidosis |
|
Extrinsic vs. Intrinsic asthma
|
EXTRINSIC- IgE type I hypersensitivity
-2 yrs -Other allergic rxns -Positive family history -Less severe INTRINSIC-Triggering stimuli -Defect in autonomic reg (non-immune) -Adult -More persistent & severe |
|
Most common form of COPD?
|
Emphysema & chronic bronchitis together "blue bloaters"
|
|
Barrel chest, dyspnea, hyperventilation & prolonged expiration?
|
Pink puffer-- pure emphysema
|
|
Cough w/ purlent sputum, less dyspnea, less hyperventilation, hypoxia, cyanosis?
|
Blue bloater- chronic bronchitis & emphysema
|
|
Persistent productive cough w/ sputum for 3 consecutive months in 2 consecutive years?
|
Chronic bronchitis
|
|
Mucus plugs are found in which lung diseases? (4)
|
1. Chronic bronchitis
2. Cystic fibrosis 3. Asthma 4. Bronchiectasis NOT EMPHYSEMA |
|
Potato nodes seen on chest x-rays (hilar & paratracheal nodes in head & neck) in which disease?
|
Sarcoidosis
(head & neck- dry mouth) |
|
Which organisms cause lobar pneumonia? (2)
|
1. Strep- Most common
2. Klebsiella |
|
Which organisms are associated w/ nosocomial infection of pneumonia?
|
1. Staph
2. Pseudomonas |
|
Most common cause of primary atypical pneumonia?
|
1. Mycoplasma (children & young adults)
2. RSV (infants) |
|
Ghon focus is pathognomonic for which disease?
|
Primary TB
*Asymptomatic |
|
Which percentae of people get secondary TB?
|
5%
|
|
Develops when microorganisms spread through pulonary drainage into systemic circulation?
|
Systemic miliary TB
|
|
Low grade fever, night sweats & weight loss associated w/?
|
Secondary TB
|
|
Most common bronchiogenic carcinoma?
|
Adenocarcinoma
*Women >40 *Non-smokers *Best prognosis |
|
Which bronchiogenic carcionma is most likely to produce ectopic homrones?
|
Small cell carcinoma
(All bronchiogenic carcinomas can produce ectopic hormones but small cell is MOST likely) |
|
Worst prognosis of all lung cancers?
|
Malignant mesothelomia (asbestos exposure)
|
|
Worst prognosis of bronchogenic carcinomas?
|
Small cell carcinoma
|
|
Elevated BUN & creatinine?
|
Azotemia
|
|
Azotemia (always present), edema/dehydration, metabolic acidosis, hyperkalemia, hypocalcemia, Decreased renin & EPO, N/V/A, fibrinous preicarditis, uremic encephalopathy all associated w?
|
Uremia
|
|
Defining characteristics of nephrotic syndrome (4)
|
1. Massive proteinuria
2. Hypoalbuminemia 3. Generalized edema 4. Hyperlipidemia & hyperlipiduria |
|
Defining characterstics of nephritic syndrome? (3)
|
1. Hematuria
2. Oliguria & azotemia 3. Hypertension |
|
Acute proliferative glomerulonephritis is associated with previous infection w/?
|
Strep
|
|
Most common form of end stage renal disease?
|
Chronic glomerulonephritis
|
|
Most common way to get acute pyelonephritis? (inflammation of kidney & renal pelvis)
|
Asceding infection of E. coli
|
|
Most common cause of chronic pyelonephritis?
|
Reflux nephropathy-- congenital vesicoureteral incompetence
|
|
Most common cause of acute renal failure?
|
Acute tubular necrosis
|
|
Autosomal dominant polycystic kidney disease found in?
|
Adults--
|
|
Autosomal recessive polycystic kidney disease found in?
|
Kids (congenital)-- poor prognosis
|
|
Mechanism of urolithiasis?
|
Supersaturation of urine (ost commonly calcium oxalate) causing PAIN, hematuria
|
|
Dilation of renal pelvis & calyces w/ atrophy of parenchyma caused by obstruction of urine outflow?
|
Hydronephrosis
|
|
Most common causes of hydronephrosis
|
1. Nodular hyperplasia of prostate
2. Kidney stones |
|
Most common tumor of kidney parenchyma?
|
Renal cell carcinoma
|
|
Malignant parenchymal tumor in kidneys of kids
|
Wilms tumor- good prognosis
|
|
Most common tumor of urinary collecting system?
|
Transitional cell carcinoma
|
|
#1 contributing factor for transitional cell carcinoma?
|
Smoking
(renal carcinoma too) |
|
Defect in diaphragm allowing stomach to pouch through?
|
Hiatal hernia
|
|
Failure of cardiac sphinter to relax causing functional obstruction?
|
Achalasia
|
|
Dilated & tortous veins in lower esophagus which are caused by portal hypertension leading to massive hematemsis on rupture?
|
Esophageal varices
|
|
Replacement of normal stratified squamous epithelium of distal esophagus by metaplastic columnar epithelium w/ goblet cells?
|
Barrett esophagus (long standing GERD)
|
|
Most common esophageal carcinoma?
|
Adenocarcinoma
|
|
Risk factors for adenocarcinoma of esophagus?
|
GERD & Barret esophagus
Distal 1/3 |
|
Risk factors for squamous cell carcinoma of esophagus? (5)
|
1. Slowed passage of food
2. Tobacco/alcohol 3. Plummer-vinson syndrome 4. Nitrosamines in diet 5. Vitamin & mineral deficiencies Middle 1/3 |
|
Major causes of chronic gastritis? (2)
|
1. H. pylori
2. Pernicious anemia |
|
Morphology of chronic gastritis? (3)
|
1. Chronic inflammation
2. Mucosal atrophy 3. Intestinal metaplasia |
|
Where does peptic ulcer disease most commonly occur?
|
First part of duodenum
|
|
Causes of intestinal type of gastric carcinoma?
|
Diets- nitrates, smoked, pickled, salty foods
Chronic gastritis- H pylori, pernicious anemia |
|
Types of malabsorption syndromes?
|
1. Defective intraluminal digestion-CF, bile obstruction
2. Primary mucosal cell abnormalities- lactose intolerance 3. Reduced SA- celiac disease, short gut, Chrohn disease 4. Infection- Tropical sprue & whipple disease |
|
Immunologic rxn to gluten causing flattening of villi and loss of surface area for absoprtion?
|
Celiac disease
|
|
Ectopic hormone production of which neoplasm of small intestine?
|
Carcinoid tumor
|
|
Segmental involvement w/ skip lesions and ruber hose consistency of bowel is seen in which disease?
|
Crohn disease
|
|
Which inflammatory bowel disease has greater risk of GI cancer?
|
Ulcerative colitis
|
|
Signs & Symptoms of inflammtory bowel diseasses?
|
Crohn disease- Recurrent diarrhea w/ pain, malabsorption
Ulcerative colitis- Bloody mucoid diarrhea & pain releived by defecation |
|
Differences between Crohn disease & ulcerative colitis?
|
ABSENT IN ULCERATIVE COLITIS:
*Granulomas *No skip lesions *rarely extend below submucosa *Little fibrosis (rubber hose) *No mucosal thickening GREATER RISK OF GI CANCER in ULCERATIVE COLITIS |
|
Most likely place to see diverticulum in GI?
|
Colon
|
|
Risk factors of colorectal carcinoma? (3)
|
1. Diet- fatty, low vitamins, refined carbs
2. Adenomatous polyps- risk is proportional to number of polyps 3. NSAIDS reduce risk |
|
Earliest sign of colorectal carcinoma?
|
Occult blood in stool (iron def anemia as result)
|
|
Which form of biliruibin is lipid soluble, toxic, tightly bound to albumin & cannot be excreted in urine?
|
Unconjugated bilirubin
|
|
Hemolytic anemias, Gilbert syndrome, Crigler Najjar, physiologic jaundice of newborn all have elevated levels of which form of bilirubin?
|
Unconjugated
|
|
Clinical findings of liver failure (6)
|
1. Jaundice
2. Fetor hepaticus 3. Hypogonadism, gynecomastia, palmar erythema, spider angiomas 4. Coagulopathy 5. Weight loss, muscle wasting 6. Peripheral edema 7. Increase risk of multiorgan failure |
|
Lab findings of liver failure? (6)
|
1. Elevated bilirubin
2. Hyperestrogenemia 3. Decrease coag factors 4. Hypoglycemia & hypolipidemia 5. Hypoalbuminemia 6. Hyperammoneia |
|
Late findings of liver failure? (2)
|
-Hepatic encephalogy (toxins to brain)
-Hepatorenal syndrome (renal failure) |
|
Causes of cirrhosis? (7)
Ranked order |
1. Alcoholic liver disease
2. Hepatitis 3. Biliary disease 4. Hemochromatosis 5. Wilsin disease 6. alpha1-antritrypsin def 7. Cryptogenic cirrhosis-unknown |
|
Most commmon cause of portal hypertension/
|
Cirrhosis
|
|
Clinical manifestations of portal hypertension? (6)
|
1. Ascities
2. Hemorroids 3. Esophageal varicies 4. caput medusae 5. Splenomegaly 6. hepatic encephalopathy |
|
Greatest new cases of hep a year?
|
Hep B , C, A
|
|
Greatest rate of asymptomatic infection of hep?
|
Hep C, B A
|
|
Highest rate of chronic infection of hep?
|
Hep C, B (NOT A)
|
|
Highest total of chronically infected people w/ hep?
|
Hep C, B
|
|
Longest & shortest incubation periods of hep?
|
Long- B, short- A
|
|
+ IgG anti HAV?
|
Past exposure or infection of Hep A --> Long term immunity
|
|
Pt w/ acute hep B will test + for?
|
IgM anti-HBc
HBsAg |
|
Past infection of Hep B is indicated by +?
|
IgG anti-HBs
High titers confer immunity Persists for life |
|
+ IgG anti-HBs would indicate?
|
Pt who had hep B
|
|
First detectable Ag in Hep B?
|
HBsAg
|
|
First detectable Ab in Hep B?
|
IgM anti-HBc
|
|
High titers of which Ab confer immunity in hep B?
|
IgG-anti-HBs
|
|
+ anti-HCV?
|
Past infection of Hep C
Need to do further testing to see if it is current infection or carrier |
|
3 patterns of alcoholic liver disease?
|
1. Hepatic steatosis- reversible, asymptomatic
2. Alcoholic hepatitis- acute, binge drinking, Mallory bodies 3. Cirrhosis -Irreversible |
|
Most common disease w/ inborn error of metabolism?
|
Gilbert syndrome
*Def f glucuronyl transferase *More yellow than sick *Hemolytic anemia |
|
Kernicterus is found in which inborn errror of metabolism?
|
Type I Crigler Najar
|
|
Reye syndrome characterized by fatty change in liver & encephalopathy due to?
|
Aspirin follwing virus --> NO JAUNDICE
|
|
Metastic tumors are most common malignancy in which organ systems?
|
1. Lungs
2. Liver 3. Bone |
|
Most commmon primary carcinoma of liver?
|
Hepatocellular carcinoma
|
|
3 contributing factors to hepatocellular carcinoma?
|
1. Cirrhosis
2. Hep B & C 3. Aflatoxin B |
|
alpha-fetoprotein is used to screen for which disease?
|
Hepatocellular carcinoma
|
|
Risk factor for calcium bilirubinate choleliths?
|
Hemolytic anemia
|
|
Major cause of acute cholecystitis?
|
Infection (enteric bacteria)
|
|
Major cause of chronic cholecystitis?
|
Chemical injury by supersaturated bile
|
|
Major contributing conditions for acute pancreatitis?
|
Alcoholism & gallstones
|
|
Elevated serum amylase & lipase?
|
Acute pancreatitis
|
|
Carcinoma of pancreas
|
Smokers, poor prognosis 2%
Head of pancreas = most common Pain is first symptom but not until advanced stage |
|
Ranked order of risk factors for breast carcinoma? (Highest to lowest) (5)
|
1. Lobular carcinoma in situ
2. Proliferative disease w/ atypical hyperplasia 3. First degree relative, Nulliparious, First birth after 35 4. Menopause >55 5. Menarche <12 |
|
Most common type of breast cancer?
|
Infiltrating ductal carcinoma
|
|
Best prognosis of breast cancer?
Worst? |
BEST: Ductal carcinoma in situ, Best invasive-medullary carcinoma
WORST: Paget disease of breast |
|
Shift in androgens to dihydrotesterone in men in > 40s will cause?
|
Nodular hyperplasia of prostate
|
|
Signs & symptoms of NHP/BPH?
|
1. Hesitancy
2. Interuption 3. Incomplete voiding of bladder |
|
Risk factors for testicular cancers?
|
1. Cryptorchidism
2. Klifefelter 3. First degree relative 4. Contralateral testis |
|
Testicular cancer that is most common & has best prognosis?
|
Seminoma
|
|
Most common tumor of adult women?
|
Leiomyomas
|
|
Most common cancer of female genital?
|
Endometrial carcinoma
|
|
Risk factors of endometrial carcinoma?
|
Increased unopposed estrogen
Obesity, infertility, diabetes, hypertension Endometrial hyperplasia |
|
Worst prognosis cancer of female genitals?
|
Ovarian cancer
Serous type-most common |
|
Precursor for chorocarcinoma in females?
|
Hydatidiform mole
|
|
Anterior pit disturbances are most commonly due to?
|
Functional pit adenoma
|
|
Gigantism is an excess of which hormone? (produced by which organ? Age of onset?
|
Excess GH from ant pit
Kids-Before skeletal growth complete |
|
Acromegaly excess of which hormone? form which organ? Age?
|
Excess GH from ant pit
Adults-after growth is complete -Continued elongation of mand -Can also have had gigantism |
|
Hypothyroidism, hypogonadism, adrenal insufficiency, poor tissue maintenance (men), amenorrhea & inferfitility (women) is?
|
Panyhypopituitarism
-Sheehan syndrome -Empty sella syndrome |
|
Diabetes insipidus is deficiency of which homrone?
What are signs & symptoms? (3) |
DEFICIENCY of ADH
-Polyuria -Polydipsia -Dehydration/electrolyte imbalance |
|
Most common disease to cause thyrotoxicosis?
|
Graves disease
|
|
Signs & symptoms of thyrotoxicosis?
|
INcreased metabolic rate:
-Heat intolerance, warm sweaty -weight loss -Nervous, emotional, tremors, weak -Tachycardia, dyspnea, palapitations -Diarrhea |
|
Mental retardation, growth retardation, delayed tooth eruption present in infants & young children?
|
Cretinism (low thyroid hormone)
|
|
cool, rough, doughy skin along w/ decreased metabolic rate & slowed speech & movement is found in which endocrine disease state?
|
Myxedema
|
|
Gland looks more like LN than thyroid tissue?
|
Hashimoto thyroiditis
|
|
All pts have early euthryoid --> SOME thyrotoxicosis & ALL have hypothyroidism?
|
Hashimoto thyroiditis
|
|
Diseases which may have thyrotoxicosis? (5)
|
1. Hashimoto thyroiditis?
2. Subacute granulomatous thyroiditis? 3. Subacute lymphocytic thyroiditis (Y) 4. Graves disease(Y) 5. Toxic multinodular goiter (Y) |
|
Diseases w/ permanent myxedema? (4)
|
1. Hashimoto (permanent)
2. Subacute granulomatous thyroiditis (some) 3. Subacute lymphocytic thyroiditis (some permanent) 4. Simple colloid goiter (some) |
|
Most common thyroid adenoma?
|
Follicular thyorid adenoma
|
|
Which cancer of thyroid is strongly linked to previous head &neck irradiation?
|
papillary carcinoma of thyroid
|
|
Ectopic hormone production? 3
|
1. Small cell carcinoma of lung
2. Carcionoid tumor of small intestine 3. Medullary carcinoma of thyroid |
|
Primary parahyperthyroidism
|
HYPERCALCEMIA
moans, groans, stones, bones |
|
Seondary parathyroidism
|
Bones & stones
|
|
What causes cushing syndrome & sign/symptoms?
|
EXCESS CORTISOL
-truncal obesity -moon facies -HYPERtension -muscle weakness -hirsutism, amenorrhea, mental disturbance |
|
Addison disease
|
chronic def of cortisol (autoimmune)--> hypotension & hypoglycemia, bronzing of gingiva
|
|
Acute adrenocortical insufficiency
|
Sudden & severe def of cortisol
Waterhouse-Friderischen- meningococcal septicemia |
|
Phlemochrocytoma signs and symptoms are due to?
|
Norepi & epi
|
|
Highly malignant neoplasm in kids derived from sympathetics?
|
Neuroblastoma
|
|
What is the limiting factor to RBC replacement in chronic blood loss?
|
Depletion of Fe
-Chronic blood loss results in Fe deficiency pattern |
|
Lab results of Fe deficiency anemia typically present as?
Decreased Hb, MCV |
Microcytic hypochromic
|
|
Anemias due to shortened survival of RBC that may be inherited or acquired
|
Hemolytic anemias
|
|
Plummer vinson syndrome typically presents w/ what 3 features?
|
1. Atrophic glossitis
2. Hypochromic microcytic anemia 3. Esophageal webs |
|
Ratio of packed RBCs to total blood volume is known as?
|
Hematocrit
|
|
What are the characteristics of ALL hemolytic anemias? (3)
|
1. Increased RBC destruction
2. Accumulation of Hb degredation products 3. Elevated EPO (hypercellularity of BM) |
|
What defect is present in HEREDITARY SPHEROCYTOSIS?
|
Defiency of spectrin molecules (protein that forms skeleton of RBC)
-Spheroidal, less deformable --> vulnerable to sequestration in spleen |
|
Normal HbA is replaced by what in pts w/ sickle cell disease?
|
HbS
-Substiution of Val for Glu at 6th position in beta chain |
|
What are the major problems of sickle cell disease due to?
|
Low O2--> Increased blood viscosity & stasis or occlusion in microvasculature --> Ischemic damage --> painful vaso-occlusive crisis
|
|
How many genes are responsible for making alpha & beta globins?
|
2 genes for 2 alpha globin
1 gene for 2 beta globin |
|
What is the defect of beta thalassemia?
|
-Splicing variation of mRNA --> non-production or reduced production of beta-globin
PRECIPITATION OF ALPHA CHAINS |
|
Hereditary spherocytosis presents with what lab findings?
|
Hyperchromic microcytic
|
|
Beta-thalassemia presents with what lab findings?
|
Hypochromic microcytic
|
|
What causes alpha-thalassemia?
|
Gene deletion of 1-4 genes coding for alpha
-Excessive gamma (barts Hb) or beta (HbH) |
|
Which form of alpha-thalassemia is asymptomatic & has no RBC abnormality?
|
Silent carrier state- 1 alpha gene deletion
|
|
Which form of alpha-thalassemia is similar to beta thalassemia minor- generally healthy w/ microcytosis?
|
2 gene deletion (Alpha thalassemia trait)
|
|
Severe form of alpha thalassemia in which beta chains associate in groups of 4 producing HbH- damages RBC membrane & triggers hemolysis?
|
Three gene deletion (HbH disease)
|
|
Which form of alpha thalassemia is lethal in utero or shortly after birth unless detected & forms groups of 4 gamma chains called Hb Barts?
|
Hydrops fetalis- 4 gene deletion
|
|
Enzyme abnormalities of hexose monophosphate shunt or glutathione metabolism resulting in an inability to protect RBC from oxidative injury?
|
Glucose-6-Phosphate DH deficiency
|
|
What type of anemia is caused by presence of Ab that are directed against RBC membranes (normal or altered)
|
Immunohemolytic anemia
|
|
What test is used to diagnose presence of anti-RBC Ab?
|
Coombs (agglutination) test (not pathognomonic)
|
|
Warm type of immunohemolytic anemia is characterized by which Ab?
|
IgG at 37
|
|
Cold type of immunohemolytic anemia is characterized by which Ab?
|
IgM below 30
|
|
Most common cause of hemolytic anemia in the world?
|
Malaria
|
|
What is most important cause of Fe deficiency anemia in western world?
|
Chronic blood loss
|
|
What are the features common to all types of megloblastic anemias? (3)
|
1. Enlargement of erythroid precursors --> megaloblasts --> macrocytes
2. Enlargement of granulocytic precursors --> hypersegmented neutrophils 3. Hyperchromic |
|
What are the lab findings of megloblastic anemias?
|
Hyperchromic microcytic
|
|
What clinical manifesttions are present w/ pernicious anemia? (4)
|
1. Gastric atrophy
2. Achlorhydria 3. Demylination of peripheral nerves/spinal cord 4. Atrophic glossitis |
|
Type of anemia that is characterized by fatty replacement of hematopoietic marrow, usually associated w/ pancytopenia
|
Aplastic anemia
|
|
Increased concentration of RBC usually associated w/ increased Hb level
|
Polycythemia
|
|
Normal Hb for male & female?
|
Male 13- 17
Female 12-15 |
|
Normal % hematocrit for male & female?
|
Male 39-49
Female 33-43 |
|
Normal MCV (mean cell volume) for adults?
|
76-100
|
|
Normal WBC count?
|
4.8 - 10.8 x 10^3
|
|
Normal % of segmented neutrophils?
|
29-60
|
|
Normal % of lymphocytes?
|
25-31
|
|
Normal % of monocytes?
|
2-6
|
|
Normal % of eosinophils?
|
0-5%
|
|
Normal % of basophils?
|
0-2
|
|
Reduction in number of WBC?
|
Leukopenia
-Neutropenia -Lymphopenia -Agranulocytosis (sever neutropenia) |
|
2 diseases of reactive leukocytosis w/ lymphadenopathy?
|
1. Mono
2. Cat scratch disease |
|
Do lymphomas metastasize?
|
Lymphomas do NOT metastasize --
They are multifocal (WBC are already mobile) |
|
Which morphological features of Non-Hodgkins lymphoma indicate a better prognosis? (3)
|
1. Nodular growth > follicular
2. Small cells > large cells 3. Cleaved cells > noncleaved nuclei |
|
Most common type of Non-hodgkin lymphoma?
|
1. Diffuse large cell lymphoma
2. Follicular lymphoma 3. Small cell lymphocytic lymphoma 4. Mantle cell lymphoma 5. Burkitt lymphoma |
|
Most --> Least common Hodginks lymphomas? (4)
|
1. Nodular sclerosis
2. Mixed cellularity 3. Lymphocyte-predominance 4. Lymphocyte-depletion |
|
Which type of Hodgkin lymphoma is most often seen in adolescents or young women?
|
Nodular sclerosis
|
|
Which type of Hodgkin lymphoma is most often seen in young men under 35?
|
Lymphocyte-predominance
|
|
Best --> Worst prognosis of Hodgkin lymphomas (4)
|
1. Nodular sclerosis
2. Lymphocyte predominance 3. Mixed cellularity 4. Lymphocyte depletion |
|
What are the types of Acute leukemias?
|
1. Precursor B cell lymphoblastic leukemia (Acute lymphoblastic leukemia)
2. Acute myelogenous leukemia |
|
What is the one characteristic shared w/ chronic leukemias?
|
-Most are associated w/ relatively indolent course - slow progression
-Mature cell profile |
|
What is a "blast crisis"?
|
Pt treated & goes into remission
-Comes out of remission w/ a profile resembling an acute leukemia w/ immautre blasts |
|
What are the types of chronic leukemias & myeloproliferative disorders?
|
1. Chronic myelogenous leukemia
2. Chronic lymphocytic leukemia 3. Hairy cell leukemia 4. Polycythemia vera 5. Myeloid metaplasia w/ myelofibrosis |
|
what is the most indolent of all the leukemias?
|
Chronic lymphocytic leukemia
|
|
What leukemia has a strong overlap w/ small lymphocytic lymphoma?
|
Chronic lymphocytic leukemia
|
|
What type of leukemia occurs in older men, involves BM, liver & spleen & has cells w/ hair-like proections?
|
Hairy cell leukemia
|
|
What disease leads to an absolute increased in red cell mass that causes increased viscosity, stasis, thromboiss & infarcts-- most often spleen heart & liver?
|
Polycythemia vera
|
|
What disease has proliferation primarily in spleen & bone marrow becomes hypocellular & fibrotic?
|
Myeloid metaplasia w/ myelofibrosis
|
|
What disease is best regarded as hybrid between small lymphocytic lymphoma & multiple myeloma-- B cells produce immunoglobins but don't look like plasma cells
|
Waldenstrom Macroglobulinemia
|
|
What are the plasma cell dyscrasias? (4)
|
1. Multiple myeloma
2. Localized plasmacytoma 3. Waldenstrom macroglobulinemia 4. Heavy chain disease |
|
Normal platelet count?
|
150 - 450 x 10^3
|
|
Normal prothrombin time?
What does PT test? (3) |
Normal = 10-13 seconds
EXTRINSIC & COMMON Coagulation pathways: 1. Factor V, VII & X 2. Prothrombin 3. Fibrinogen |
|
Normal INR range ?
What is INR? |
Normal = 0.8-1.2
Standardized PT test |
|
Normal partial thromboplastin time?
What does PTT test? (3) |
Normal = 23-40 seconds
INTRINSIC & COMMON coagulation pathways: 1. Factor V, VIII, IX, X, XI, XII 2. Prothrombin 3. Fibrinogen |
|
Thrombocytopenia is characterized by? (3)
|
1. Spontaneous & excessive bleeding (petechiae & purpura)
2. Prolonged bleeding time 3. Normal coagulation times |
|
Rare disease due to deficiency of ADATS13 (vWF metalloprotease) which allows high weight vWF to promote platelet aggregation w/ microthrombi & hemolytic anemia?
|
Thrombotic Thrombocytopenia Purpura
|
|
What is the most common disease of coagulation problems due to Factor VIII?
|
von Willebrand disease
|
|
What is the most common inherited disorder to cause serious bleeding?
|
Hemophilia A
|
|
What is the mechanism of Heparin?
|
DIRECT acting anticoagulant
-Accelerates inactivation of thrombin by binding antithrombin III -Blocks conversion of prothrombin to thrombin |
|
Vitamin K is required to synthesize which factors?
|
Factors II, VIII, IX & X
|
|
All protein coagulation factors are made in the liver EXCEPT?
|
Part of Factor VIII complex= von Willebrand factor
-synthesized by endothelial cells in body |
|
General term for patterns of disease w/ thickening & inelasticity of of arteries
|
Arteriosclerosis
|
|
Calcifications in tunica media of medium sized muscular arteries in individuals over 50 that does NOT usually cause clinical disease?
|
Mokeberg Medial Calcific Sclerosis
|
|
Arteriosclerosis of small arteries & arterioles most often associated w/ hypertension & diabetes mellitus
|
Arteriolosclerosis
|
|
Formation of intimal fibrofatty plaques (artheromas) that cause:
-Vascular narrowing -Degenerative changes |
Atherosclerosis
|
|
Intense spasm of local small arteries & arterioles in response to cold or emotions in healthy young womeh which cause pallor & pain
|
Primary Raynaud Phenomenon
|
|
Episodic arterial insufficiency secondary to another disease process that cause pain & pallor of digits & frequent, sever episodes usually after 30 yrs
|
Secondary Raynaud Phenomenon
|
|
Inflammation of wall of artery or vein that have necrotizing changes
|
Vasculitis syndrome
|
|
Classic example of vasculitis syndrome?
-Kidney, heart, liver, GI -Necrotizing inflammation of medium-small arteries |
Polyarteritis Nodosa
|
|
Wegener granulomatosis is positive for which auto-Ab in 95% of pts?
|
c-ANCA
|
|
T-cell mediated response to an Ag that causes granulomatous inflammation in larger arteries of head?
|
Giant cell arteritis (Temporal arteritis, cranial arteritis)
-Significant predilection for temporal arteries & terminal branches of ophthalmic arteries |
|
Which disease is often an acute febrile illness of infants/young kids that features vasculitis of coronary arteries that may lead to thrombosis & MI. Oral lesions can be present.
|
Kawasaki Disease
|
|
Abnormal dilation of an artery or vein?
|
Aneurysm
|
|
Blood enters wall of an artery forming a hematoma between layers of arterial wall, often aneurysmal
|
Dissection
|
|
Hypertension is an important risk factor for? (4)
|
1. Coronary heart disease
2. Cerebrovascular accident 3. CHF 4. Renal failure |
|
What is the most common type of hypertension by etiology?
|
Essential hypertension
|
|
Which is the most common type of hypertension by clinical course?
|
Benign hypertension
-Fairly stable & compatible w/ long life |
|
Homogenous pink hyaline thickening of arterior walls & narrowing of vascular lumen represents which type of arteriolosclerosis?
|
Hyaline arteriolosclerosis
|
|
Onion skin concentric laminated thickening of arterior walls narrowing lumen represents which type of arteriolosclerosis?
|
Hyperplastic arteriolosclerosis
|
|
Most common type of lymphedema?
|
Secondary lymphedema
|
|
What are the 3 types of primary lyphedema?
|
1. Simple congenital
2. Milroy disease 3. Lymphedema pracoex |
|
What is the most common type of primary lymphedema?
|
Lymphedema praecox
|
|
Which types of primary lymphedema are congenital & which are familial? (3)
|
1. Simple congenital- CONGENITAL
2. Milroy disease- CONGENITAL & FAMILIAL 3. Lymphedema praecox- FAMILIAL |
|
Reactive lesion that appears to be an aberration of healing following trauma/irritation- formed of granulation tissue, often w/ surface ulceration- very vascular & bleeds easily?
|
Pyogenic granuloma
|
|
Focal red lesions created by abnormal dilation & branching of preexisting small arteries/arterioles about a central core
|
Spider telangiectasias
|
|
In forward heart failure there is problem with?
Which 2 causes of Left-sided CHF are forward failure? |
FORWARD = decreased cardiac output (problem w/ heart muscle/contractility)
1. Ischemic heart disease 2. Primary myocardial disease |
|
In backward heart failure there is problem with?
What 2 causes of Left-sided CHF are backward failure? |
BACKWARD = increased work load, pressure load or blood volume
1. Hypertension 2. Valvular disease |
|
Clinical manifestations of Left-sided CHF? (5)
|
1. Dyspnea
2. Orthopnea 3. Paroxysmal nocturnal dyspnea 4. Cough 5. Cyanosis (advanced) |
|
MOST --> LEAST common causes of Left-sided CHF? (4)
|
1. ISCHEMIC HEART DISEASE
2. Hypertension 3. Valvular disease 4. Cardiomyopathy/myocarditis |
|
MOST --> LEAST common causes of Right-sided CHF? (4)
|
1. LEFT SIDED CHF
2. Valvular disease 3. Congenital L-to-R shunts 4. Intrinsic lung disease (cor pulmonale) 5. Cardiomyopathy/myocariditis |
|
what are the 4 patterns of ischemic heart disease (coronary heart disease)?
|
1. Angina pectoris
2. MI 3. Sudden cardiac death 4. Chronic ischemic heart disease |
|
Which ischemic heart disease (coronary heart disease) is most common?
|
Chronic ischemic heart disease
|
|
Pathogenesis of all 4 patterns of ischemic heart disease?
|
Severe coronary atherosclerosis
|
|
Critical stenosis is what % obstructed?
Fixed stenosis at what % causes symptoms? |
Critical = 70%
Fixed = 90% --> symptoms |
|
What is the most common pattern of angina?
|
Typical (Stable) Angina
|
|
Ischemia due to stenosing atherosclerosis compounded with increased myocardial demand (triggered by exertion/emotional stress)
|
Stable (typical) angina
|
|
Vaspospasm which may be superimposed of fixed stenosis- attacks may appear at rest & are relieved by vasodilators
|
Prinzmetal angina
|
|
Attacks forewarm of imminent dange of a subsequent acute MI
|
Unstable angina
|
|
What are the 2 types of MIs & which is more common?
|
1. TRANSMURAL (full thickness of ventricular wall)--MORE COMMON
2. SUBENDOTHELIAL (inner 1/3-1/2 thickness of wall) |
|
What is most common precipitating factor to MI?
|
Thrombosis superimposed on coronary atherosclerosis
|
|
Most common coronary artery involved in MI?
|
Left anterior descending coronary artery
|
|
Irreversible cell injury in the case of MI occurs in what time frame?
|
20-40 mins
|
|
Lesion is maximally soft & weak during what time frame?
|
7-10 days
|
|
What type of complications arise from MI? (5)
|
1. Arrythmias (early)
2. Cardiogenic shock (early) 3. Rupture of wall, septum or papillary muscle (early) 4. Embolism of mural thrombus (early) 5. Left sided CHF (late) |
|
Unexpected death from cardiac causes w/ in 1 hr of onset of acute symptoms
|
Sudden cardiac death
|
|
The ultimate mechanism of death in SCD is almost always due to?
|
Lethal arrythmia (asystole, ventricular fibrillation)
|
|
Form of heart disease that appears insidiously in older pts who develop ECG changes & CHF
|
Chronic ischemic heart disease
|
|
Minimal anatomic criteria for diagnosis of hypertensive heart disease?
|
1. Left ventricular hypertrophy w/ NO other changes
|
|
Right ventricular hypertrophy secondary to pulmonary hypertension-- w/o ventircular dilation
|
Cor pulmonale
|
|
Gross morphologic changes of heart in CHF?
|
Left-sided CHF
-Left ventricular hypertrophy & dilation Right-sided CHF -R & L ventricular hypertrophy w/ R & L dilation |
|
Most common clinical sign of congenital heart defect?
|
Heart murmur
|
|
What are examples of L-to-R shunts?
What are the clinical signs of L-to-R shunts? |
1. Ventricular septal defect
2. Atrial septal defect 3. Patent ductus arteriosis -Acyanotic (normal) at first -Late cyanosis due to R. heart pressure overload & reversal of flow |
|
What are examples of R-to-L shunts & what are their clinical signs?
|
1. Tetraology of Fallot
2. Transposition of Great Vessels -Cyanosis -Allow for paradoxical emboli |
|
What are examples of congenital heart diseases w/ obstruction to flow w/ NO cyanosis?
|
1. Coarctation of the Aorta
2. Aortic stenosis 3. Pulmonic stenosis |
|
What is the most common congenital heart defect?
|
Ventricular septal defect
|
|
What are the 4 components of tetratology of fallot?
|
1. Ventricular septal defect
2. Detraxposed aorta that overides VSD 3. Pulmonic stenosis (obstruction of R. ventricular outflow) 4. R. ventricular hypertrophy |
|
What is the problem in transposition of the great vessels?
|
Reversed positon of pulmonary artery & aorta
|
|
What may give the patient more time before treating transposition of the great vessels?
|
Patent ductus arteriosis
|
|
Constriction or narrowing of the aorta is known as?
Which form is more severe? |
Coarctation of the Aorta
-Preductal form occurs proximal to ductus arteriosis --> fatal -Postductal form occurs distal to ductus arteriosis--> asymptomatic |
|
Fusion of commissures of heart valve leaflets w/ fibrosis & calcification
|
Calcific aortic stenosis
|
|
Most common acquired cardiac valve disease in US?
|
Mitral valve prolapse
-Valve leaflets prolapse & balloon backward toward L atrium during systole |
|
What protein on the surface of strep evokes Ab that are cross-reactive w/ human epitopes on heart?
|
M protein
|
|
What is the pathognomonic lesion of rheumatic fever?
|
Aschoff body
|
|
Fibrinous "bread & butter" pericarditis is common in which disease?
|
Rheumatic heart disease
|
|
Are microorganisms found in vegetations on heart valves in rheumatic heart disease & infective endocarditis?
|
Rheumatic heart disease- vegetations w/o microorganisms
Infective endocarditis- vegetations w/ microorganisms |
|
Ab that are diagnostic to rheumatic fever? (2)
|
1. Antistreptolysin O
2. Antistreptokinase |
|
What is the single most likely indicator of heart valve replacement?
|
Rheumatic heart disease
|
|
Infective endocardititis requires which 3 factors ?
|
1. Microorganisms
2. In circulating blood 3. Susceptible host |
|
50-60% of cases of infective endocarditis are caused by?
Which form of IE do they cause? |
Strains of alpha-Strep (including strep viridans)
SUBACUTE BACTERIAL ENDOCARDITIS |
|
10-20% of infective endocarditis cases are caused by?
Which form of IE do they cause? |
S. aureus
ACUTE INFECTIVE ENDOCARDITIS |
|
What factors increase risk of infective endocarditis? (6)
|
1. Rhematic heart disease
2. Congenital heart defects 3. Mitral valve prolapse w/ regurgitation 4. SLE 5. Artificial heart valves 6. IV drug abuse |
|
What clinical manifestations are common to both subacute & acute endocarditis? (2)
|
1. Changing heart murmur
2. Enlarged spleen |
|
Prophylaxis for IE is recommended for? (4)
|
1. Prosthetic heart valve
2. Previous IE 3. Congenital heart disease -Unrepaired cyanotic shunt (R-to-L) -Repaired defect w/ prostehtic material during 1st 6 months -Repaired w/ residual defects near prosthetic device 4. Cardiac transplant who develop valvulopathy |
|
Procedures that do NOT require prophylaxis? (6)
|
1. Injections
2. X-rays 3. Placement of RPD or ortho appliance or brackets 4. Adjustment of ortho appliance 5. Shedding of primary teeth 6. Bleeding from trauma to lips or oral mucosa |
|
Myocardial inflammation sufficient to cause clinical manifestations commonly due to infections, immune-mediate reactions ?
|
Myocarditis
|
|
Non-inflammatory myocardial disease that is not attributable to pressure or volume overload?
|
Cardiomyopathy
|
|
The hallmark of obstructive lung diseases is?
|
Decreased expiratory flow rate
-Anatomic airway narrowing -Loss of elastic recoil |
|
What are the pathogenic mediators in extrinsic asthma? (3)
|
1. LTC4, LTD4, LTE4- bronchoconstriction & mucin production
2. PGD2- bronchonstriciton & vasodilation 3. LTB4-recruit eosinophils & neutrophils |
|
Histologic morphology of asthma? (4)
|
1. Mucous plugs in bronchi
2. Inflammation w/ edema, hyperemia & inflammatory cells 3. Mucous gland hyperplasia 4. Hypertrophy & hyperplasia of bronchial SM |
|
3 types of emphysema?
|
1. Centriacinar (Centrilobular)
2. Panacinar (Panlobular) 3. Distal Acinar (Paraseptal) |
|
which pattern of emphysema is most severe & has strongest association w/ smoking?
|
Centriacinar (Centrilobular)
|
|
Why type of emphysema occurs in alpha-1-antitrypsin deficiency?
|
Panacinar (Panlobular)
|
|
What is the pathogenesis of emphysema? (2)
|
1. Increased elastase activity
2. Decreased alpha-1-antitrypsin activity (protease inhibitor) UNCHECKED DESTRUCTION OF ELASTIC TISSUE -This imbalance is greatly increased by smoking |
|
Major source of elastase (a protease)?
|
Neutrophils
|
|
What are the 4 forms of chronic bronchitis?
|
1. Simple chronic bronchitis
2. Chronic mucopurulent bronchitis 3. Chronic asthmatic bronchitis 4. Chronic obstructive bronchitis |
|
Permanent dilation of bronchi & bronchioles due to destruction of muscle & elastic supporting tissue resulting from or associated w/ chronic necrotizing infections?
|
Bronchiectasis
|
|
Which conditions most commonly predispose to bronchiectasis? (3)
|
1. Necrotizing/suppurative pneumonia
2. Bronchial obstruction 3. Congenital/hereditary conditions |
|
Multisystem disease of unknown cause w/ non-caseating granulomas-- mechanism involves type IV hypersensitivy rxn
|
Sarcoidosis
|
|
What are the major target sites of sarcoidosis? (4) Ranked
|
1. Lymph nodes (potato nodes)
2. Spleen 3. Eyes, lacrimal & salivary glands 4. Lungs, lung & skin/mucous membranes |
|
Preferred term for acute pneumonias caused by bacteria?
|
Pneumonia
|
|
Preferred term for acute "atypical" pnuemonias which involve interstitum?
|
Pneumonitis
|
|
Which pattern of acute bacterial pneumonia has patchy consolidation of more tahn one lobe w/ purulent exudate?
|
Bronchopneumonia
|
|
What are the 4 stages of Lobar pneumonia & features of each?
|
1. CONGESTION- heavy, red, subcrepitant
2. RED HEPATIZATION- exudate, firm, red & airless 3.GREY HEPATIZATION- fibrin & degenerating WBC, gray brown dry 4. RESOLUTION- exudate digested & return to normal |
|
What is the most important risk factor for TB?
|
HIV
|
|
What are risk groups for TB? (3)
|
1. New immigrants 55%
2. HIV 3. Extreme poverty, crowding |
|
What are the pathways of progression of secondary TB? (6)
|
1. Progressive pulmonary TB
2. Miliary pulmonary 3. Endobronchial, endotracheal & laryngeal 4. Systemic miliary 5. Isolated organ 6. Intestinal |
|
Most common form of cancer in lung?
|
Metastic tumors
|
|
What are the 4 types of bronchiogenic carcinomas? BEST --> WORST PROGNOSIS
|
1. Adenocarcinoma
2. Squamous cell carcinoma 3. Large cell carcinoma 4. Small (OAT) cell carcinoma |
|
What is the most common lung tumor in males & has strong association w/ smoking & squamous metaplasia?
|
Squamous cell carcinoma
|
|
Tumor confined to larynx causes what major symptom?
|
Persistent hoarseness
|
|
Most common mechanism of glomerular diseases? (3)
|
Ab-mediated pathways
1. Circulating immune complex nephritis (Type III hypersensitivity rxn) 2. Immune complex nephritis in-situ 3. Cytotoxic Ab |
|
Primary glomerular diseases that present as NEPHROTIC syndrome? (4)
|
1. Lipoid Nephrosis
2. Membranous glomerulonephritis 3. Focal segmental glomerulosclerosis 4. Membranoproliferative glomerulonephritis |
|
What is the pathogenesis of NEPHROTIC syndrome diseases?
|
Derangement of capillary basement membrane leading to increased permeability of plasma proteins
|
|
Glomerular diseases that present as NEPHRITIC syndrome? (4)
|
1. Acute proliferative glomerulonephritis (acute poststrep GN, postinfectious GN)
2. Rapdily progressive GN (crescentic GN) 3. IgA Nephropathy (Berger disease) |
|
What is the pathogenesis of NEPHRITIC syndrome diseases?
|
Proliferation of cells w/ in glomeruli accompained by leukocytic infiltrate
|
|
Which disease is characterized by rapid & progressive loss of renal function, sever oliguria & death from renal failure within weeks-months?
|
Rapidly progressive (Cresenctic) GN
(nephritic syndrome) |
|
What is the pathogenic hallmark of Berger disease?
|
IgA in mesangium (IgA Neprhopathy)
|
|
Types of drug-induced interstital nephritis? (2)
|
1. Acute Drug-Induced Interstital Nephritis
2. Analgesic Nephropathy |
|
Which drug-induced nephritis disease is caused by adverse hypersensitivy reaction to drugs that onset about 15 days after & has fever, rash & hematuria?
|
Acute-drug induced interstitial nephritis
|
|
Which drug induced nephritis is often caused by consumption of large quanitities of analgesics?
|
Analgesic Nephropathy
|
|
Majority of cases of autosomal dominant (adult) polycystic kidney disease have which defective gene?
|
90% APKD-1 at chromosome 16p
10% APKD-2 at chromosome 4 |
|
What are serious complications of autosomal dominant polycystic kidney disease? (4)
|
1. Hypertension
2. UTI 3. Progress to renal failure --> need transplant |
|
Major symptom associated w/ hydronephrosis?
|
Altered quantity of urine output
|
|
What is the classic triad of signs & symptoms of renal cell carcinoma?
|
1. Painless hematuria
2. Dull flank pain 3. Longstanding fever |
|
3rd most common organ cancer of children under ten?
|
Wilms tumor
|
|
Defining characteristics of Wilms tumor?
|
1. Primitive/abortive glomeruli w/ poorly formed Bowman's space
2. Abortive tubules 3. Spindle cell stroma |
|
Risk factors of transitional cell carcinoma? (5)
|
1. Betal-napthylamine
2. Smoking 3. Chronici cystitis 4. Schistomsomiasis 5. Cyclophosamide |
|
Most common site for transitional cell carcinoma & best prognosis?
|
1. Bladder = most common & best prognosis
2. Renal pelvis 3. Ureter = least common & worst prognosis |
|
Longitudinal tears in esophageal mucosa that are caused by severe vomiting & is common in chronic alcoholics?
|
Esophageal lacerations (Mallory-Weiss syndrome)
|
|
Most common type of gastric carcinoma?
|
Diffuse type- risk factors unknown
More aggressive w/ poor prognosis |
|
Most common & most innocuous anomaly of small intestine?
|
Meckel diverticulum
-Congenital -Distal ileum |
|
Membranous abdominal wall that balloons out & contains abdominal viscera
|
Omphalocele
|
|
Which type of malabsorption syndrome is associated w/ increased risk of intestinal lymphoma?
|
Celiac disease
|
|
Bowel obstruction can be caused by? (4)
|
1. Herniation
2. Adhesions (scar tissue) 3. Intussusception (telescoping) 4. Volvulus (kinks) |
|
Most common cancer of small intestines?
|
Adenocarcinoma
|
|
What is the etiology of Idiopathic inflammtory bowel diseases?
|
1. Genetic predisposition
-Ulcerative colitis - HLA-DR2 -Crohn disease - HLA-DR1, Dqw5 2. Dysregulation of T-cell responses 3. Microbial factors |
|
Congenital functional obstruction of bowel because peristalsis stops due to lack of Meissner's & Auerbach's plexus?
|
Hirschsprung disease (Congenital megagolin)
|
|
Most common type of colon polyps?
|
Non-neoplastic polyps:
1. Hyperplastic (more common) 2. Juveline (hamartomas) |
|
Most common morphological type of adenomatous polyp?
|
Tubular
next: tubular villous last: Villous |
|
Familial polyposis syndromes (4)
|
1. Familial adenomatous polyposis
2. Gardner syndrome 3. Peutz-Jehger syndrome 4. Cowden syndrome |
|
What is Gardner syndrome? (4)
|
1. Multiple osteomas
2. Impacted & supernumerary teeth 3. Multiple epidermoid or sebaceous cysts 4. Multiple adenomatous polyps INCREASED RISK OF ADENOCARCINOMA OF COLON |
|
Which familail polyposis syndromes have head & neck manifestations? (3)
|
1. Gardner syndrome
2. Peutz-Jehgers syndrome 3. Cowden syndrome |
|
What type of pain is present in acute appendicitis?
|
Rebound pain-- hurts worse when pressure is relieved if pushed on
Right lower quadrant |
|
Which form of bilirubin is water soluble, loosely bound to albumin & is excreted into bile & eliminated into feces, excess excreted in urine?
|
Conjugated bilirubin
|
|
What does direct bilirubin measure?
|
Conjugated bilirubin
Normal = 0.3 mg/dL |
|
What does total bilirubin measure?
|
Conjugated + unconjugated bilirubin
Normal = 1.3 mg/dL |
|
What are the 3 most common causes of jaundice?
|
1. Hemolytic anemias (unconjugated)
2. Hepatitis (conjugated & unconjugated) 3. Obstruction of bile outflow (conjugated) |
|
Most common cause of jaundice in newborn?
|
Physiologic jaundice of newborn
-Impaired conjugation of bilirubin |
|
Most common cause of extrahepatic biliary obstruction?
|
Gallstones
|
|
3 Morphologic alterations that cause liver failure?
|
1. Chronic liver disease- most common
2. Massive liver necrosis 3. Hepatic dysfunction w/o over necrosis |
|
Defining characteristics of cirhrosis? (3)
|
1. Bridging fibrous septae
2. Nodules of regenerated parencyma 3. Disruption of entire liver architecture |
|
+ IgM-anti HAV?
|
Acute hep A
|
|
What Ag indicates that a person is a carrier of Hep B?
|
HBs Ag = carrier of Hep B
|
|
27 nm icosahedral capsid w/ ssRNA, Picornavirus?
|
Hepatitis A
|
|
"serum hepatitis" or "long incubation hepatitis"
|
Hep B
|
|
What are the clinic forms of Hep B? (4)
|
1. Acute
2. Crhonic 3. Fulminant 4. Asymptomatic carrier |
|
What are complications of Hep B? (3)
|
1. Fulminant hepatitis leading to death (rare)
2. Chronic disease --> cirrhosis 3. Chronic disease w/ increased risk for hepatocellular cancer |
|
Which Ab heralds the onset of recovery of Hep B?
|
Anti-Hbe
|
|
42 nm enveloped dsDNA hepadnavirus (Dane particle)
|
Hep B
|
|
30-60 nm enveloped ssRNA Flavivirus
|
Hep C
|
|
35 nm enveloped ssRNA replication defective virus that must be surrounded by ____ in order to replicate?
|
Must have co-infection of HBV
Need HBsAg in order to replicate Forms both IgM & IgG anti HDV Ab |
|
32-34 nm unenveloped ssRNA virus of Calicivirdae family
Water borne & transmitted through enterir routes Short incubation 2-8 weeks |
Hep E
|
|
Which forms of Hep do NOT cause chronic hepatitis?
|
Hep A & E
|
|
Mallory bodies are often seen in what disease?
|
Alcoholic hepatitis-- Mallory bodies
*Intracellular accumulation of keratin intermediate filaments & other proteins; eosinophilic inclusion bodies |
|
Most innocuous type of inborn error of metabolism- "more yellow than sick"?
|
Gilbert syndrome
|
|
Most common need for pediatric liver transplant?
|
Biliary atresia
|
|
Both Gilbert syndrome & Crigler-Najjar syndrome feature defiency of which enzyme?
|
Gluconyl Transferase --> Unconjugated bilirubin
1. Gilbert- mild def. 2. Type I CN- complete lack 3. Type II -severe def. |
|
Reye syndrome is characterized by which 2 changes?
|
1. Fatty change in liver
2. Encephalopathy |
|
Budd-Chairi syndrome?
|
Hepatic vein thrombosis
-Engorged w/ blood & no new blood can enter --> Ischemia |
|
Cholangitis is most commonly caused by?
|
Cholangitits = inflammation of bile ducts
-Bacterial infection - Most commonly: E coli & other gram (-) enterics |
|
Liver abscesses are most commonly seen as a complication of?
|
Acute ascending cholangitits
|
|
Severe steady right upper quadrant abdominal pain usually due to?
|
Acute cholecystitis (inflammation of gallbladder)
|
|
Cardinal manifestation of acute pancreatitis?
|
Mid abdominal pain
|
|
Pathogenesis of acute pancreatitis & resulting features? (3)
|
Activation of trypsinogen
Autodigestion resulting in: 1. Hemorrhage from vessel necrosis 2. Fat necrosis 3. INflammation |
|
Beta islet cell tumors cause?
|
Hyperinsulinism
-Benign insulinoma -Cause hypoglycemia |
|
Zollinger-Ellsion syndrome is a tumor of _________ that secretes _______ & manifests w/ ______?
|
Functional islet cell tumor
-Gastrinoma- secretes GASTRIN -Causes peptic ulcers -Most are malignant |
|
Normal fasting blood glucose range?
What level is diagnostic for diabetes? |
Normal = 62-110
Diagnostic for DM = > 126 |
|
Which test is mostly used for gestational diabetes?
|
Glucose tolerance test (Glucose challenge)
> 200 2 hrs after challege |
|
Hemoglobin A1C test measures?
Normal results? |
Glycosylated hemoglobin
-Reflects average blood glucose levels over past 3 months Normal = 5% Desired in DM = <6% Acceptable in DM = < 7% |
|
Major manifestations of Type I DM? (5)
|
1. Polyuria
2. Polydipsia 3. Polyphagia 4. Weight loss/weakness 5. Ketoacidosis |
|
Etiology of Type I DM?
|
Severe or total lack of insulin caused by reduction in beta cell mass
|
|
Genetic susceptibility of type I DM is located on which chromosome?
|
Chromosome 6 --> codes for HLA-D antigens of MHC
|
|
Pathogenesis of Type I DM?
|
1. Genetic
2. Autoimmune- T cell mediated destroys islet cells 3. Environmental factor triggers autimmune reaction (viruses) |
|
Clinical signs & symptoms of Type II DM? (5)
|
1. Polyuria
2. Polydipsia 3. Polyphagia 4. Obesity 5. Weight loss/weakness (late signs) |
|
Genetic influences are more important in type I or II DM?
|
Type II- unknown factors but MORE important than type I (HLA Ag)
|
|
Complications of DM? (5)
|
1. Diabetic nephropathy
2. Ischemic heart disease (MI or stroke) 3. Peripheral neuropathy 3. Diabetic retinopathy (eventually blindnes) 4. Gangrene of extremities 5. Increased susceptibility to infection |
|
Most common breast disorder?
|
Fibrocystic changes
|
|
Most common type of fibrocystic change in breast?
|
Nonproliferative fibrocystic changes-
Cysts & Fibrosis -Multifocal & bilateral |
|
Types of proliferative fibrocystic changes in breasts? (2)
|
1. Epithelial hyperplasia
2. Sclerosing adenosis |
|
Epithelial hyperplasia of breast may have proliferation of ductal or lobule epithelium-- What if atypia is present?
|
Epithelial hyperplasia w/ atypia increases risk of developing carcinoma
|
|
Fibrocystic change that produces Hard rubbery mass, usually unilateral, in upper outer quadrant which is histologically similar to invasive carcinoma of breast?
|
Sclerosing adenosis
*Very slight risk to progression of carcinoma |
|
Minimal or NO increased risk of breast carcinoma? (4)
|
1. Fibrosis
2. Cystic changes 3. Appocrine metaplasia 4. Mild epithelial hyperplasia |
|
Slightly increased risk of breast carcinoma? (1.5-2x) (3)
|
1. Moderate-florid epithelial hyperplasia
2. Ductal papillomatosis 3. Sclerosing adenosis |
|
Significantly Increased risk of breast carcinoma? (5x) (1)
|
1. Atyppical epithelial hyperplasia
|
|
Most common benign tumor of female breast?
|
Fibroadenoma
-Young women (20s) -Increased estrogen -Solitary, firm, freely moveable nodule -Excellent prognosis |
|
Rapidly growing, massive solitary breast mass w/ benign ductal epithelium & malignant tissue stroma but has excellent prognosis becausethey are localized?
|
Cytosarcoma phyllodes
Smaller benign phyllodes tumor = Giant Fibroadenoma |
|
Most common location of breast tumors (bengin/malignant)
|
Upper outer quadrant
|
|
Infilitrating types of breast carcinoma arising in ducts? (4)
|
1. Infiltrating ductal carcinoma
2. Medullary carcinoma 3. Colloid (mucinous) carcinoma 4. Paget disease of breast |
|
Nodular hyperplasia of prostate involves which zone of prostate gland? Prostate carcinoma?
|
Central zone surrounding urethra
-Glandular & stromal hyperplasia Adenocarcinoma of prostate = peripheral zone |
|
Most common cancer in males?
|
Carcinoma of prostate
(Adenocarcinoma) |
|
Carcinoma of prostate metastasizes where first?
|
Local lymph nodes (lumbar vertebrae)
|
|
Testicular neoplasms are more commonly derived from which cells?
|
95% germ cells- malignant
5% interstitial cells- benign |
|
Most common mixed histological pattern of testicular cancer?
|
Teratoma & embryonal carcinoma
|
|
Most common testicular tumor in boys under 3 yrs?
|
Yolk sac tumors
(occurs only in mixed tumors of adults) |
|
Most common type of ovarian tumor?
|
Surface germinal epithelium tumors
-Serous type -60% benign |
|
Most common germ cell tumor in women?
|
teratoma
|
|
Abnormal fertilzating causing failure of embryo to develop & proliferation of hydropic chorionic villi?
|
Hydatidiform mole
|
|
A "complete" hydatidiform mole contains?
|
Empty egg fertilzed by 2 sperm- diploid
No fetal parts |
|
A "partial" hydatidiform mole contains?
|
Normal egg w/ 2 sperm - triploid
Some fetal parts |
|
3 sites of choriocarcinoma?
|
1. Placenta
2. Ovaries 3. Testes |
|
Malignant uterine neoplasmderived from trophoblastic cells
|
Chorocarcinoma
-50% follow hydatidiform moles -20% arise after abortion/miscarriage |
|
Hyperpituitarism is most often due to which 3 tumors?
|
Functioning pituitary adenoma
1. Prolactin cell adenoma 2. ACTH adenoma 3. Gonadotroph cell adenoma |
|
Tumor arising from vestiges of craniopharyngeal duct that commonly occurs in kids/adolescents & closely resembes ameloblastoma & causes hypopituitarism
|
Craniopharyngioma
|
|
Examples of extrasellar lesions that may cause hypopituitarism? (4)
|
1. Craniopharyngioma
2. Meningioma 3. Gliomas 3. Germ cell tumors |
|
GH defiency in childhood that presents as grwoth retardation w/ proportional body segments?
|
Pituitary dwarfism
|
|
Infarction & necrosis of pituitary that often occurs post-partum & first slgn may be mother's inability to feed baby due to hypopituitarism?
|
Sheehan Syndrome
|
|
Gradual destruction of pituitary that disappears leaving a nubbin of fibrious tissue
|
Empty sell syndrome
|
|
Syndrome of inappropriate ADH secretion has what clinical signs & symptoms? (3)
|
1. Hypertension (increased blood volume)
2. Hemodilution 3. Relative hypoatremia |
|
What must be avoided in pts with signs of thyrotoxicosis?
|
Epinephrine
|
|
Lab results of hyperthyroidism?
|
1. Elevated T4 & T3
2. Elevated radioactive idione uptake 3. Decreased TSH |
|
Increased T4, T3 & TSH would indicate problem with?
|
Hypothalamus or pituitary gland
|
|
Causes of crenitism? (4)
|
1. Autoimmune- AutoAb from hypothyroid mom
2. Exogenous goitrogens 3. Iodidine deficiency 4. Hereditary biosynthetic defects |
|
What disorders present w/ myxedema? (4)
|
1. Surgical removal of thyroid gland (due to Graves disease-most common)
2. Radiation ablation 3. Hashimoto thyroiditis 4. Primary autoimmune disease |
|
Lab findings of pts w/ hypothyroidism? (2)
|
1. Low T4 & T3
2. Elevated TSH (compensatory) |
|
Most common form of thyroiditis?
|
Hashimoto thyroiditis
|
|
Pathogenesis of hashimoto thyroiditis?
|
1. Autoimmune- auto Ab
2. Genetic- HLA-DR5 -INcreased frequency of other autoimmune diseases: pernicious anemia, RA, SLE, Type I DM |
|
Subacute granulomatous thyroiditis (Quervain thyroiditis) etiology?
|
Viral origin - upper respiratiory infection, Mumps, measles, influenza
|
|
Which thyroid disease may present with granulomatous inflammation?
|
Subacute granulomatous thyroiditis (Quervain thyroiditis)
|
|
Thyroid levels in subacute granulomatous thyroiditis (Quervain thyroiditis)?
|
May have thyrotoxicosis (hyperthyroidism)
Resolves to become euthyroid SOME develop transient hypothyroidism |
|
Thyroid levels in subacute lymphocytic thyroiditis?
|
Initial thyrotoxicosis (hyperthyroidism)
Euthyroid within months SOME hypothyroid |
|
Pathogenesis of Graves disease? (2)
|
1. Autoimmune- Auto Ab
2. Genetic- HLA-DR3 |
|
Classic triad of signs of Graves disease?
|
1. Thyrotoxicosis
2. Bug eyes (infiltrative ophthalmopathy) 3. Subcutaneous edema |
|
Lab findings of Graves disease? (2)
|
1. Increased T4 & T3
2. INcrease RAIU |
|
Simple colloid goiter typically has what type of thyroid levels?
|
Usually euthyroid
MAY be hypothyroid (myxedema) |
|
Multinodular goiter typically has what type of thyroid levels?
|
Often euthyroid
May develop thyrotoxicosis in longstanding cases = Toxic Multinodular goiter |
|
Which type of thyroid tumor is very difficult to distinguish from papillary thyroid carcinoma?
|
Papillary thyroid adenoma
|
|
Most common type of thyroid carcinoma?
|
Papillary carcinoma of thyroid
|
|
Which type of carcinoma arises from parafollicular C cells of neurosecretory origin?
|
Medullary carcinoma of thyroid
|
|
Most common --> least common thyroid carcinomas? Well or poorly differientated?
|
1. Papillary carcinoma (well)
2. Follicular carcinoma (well) 3. Anaplastic carcinoma (poor) 4. Medullary carcinoma (poor) |
|
Osteitis fibrosa cystica is found in?
|
Hyperparathyroidism
|
|
Most common cause of secondary hyperparathyroidism?
|
Advanced renal disease w/ calcuria
|
|
What are the disease mechanisms of Cushing syndrome? (4)
|
1. Iatrogenic (long term steroid use)
2. Pituitary (excess ACTH) 3. Adrenal (low ACTH high coritisol) 4. Ectopic (ectopic ACTH) |
|
Most common mechanism of Cushing syndrome? exogenous & endogenous
|
Iatrogenic (exogenous)
Pituitary (endogenous) |
|
Clinical findings of Hyperaldosteronism? (4)
|
1. Hypokalemia (muscle weakness, paralysis & cardiac dysfunction)
2. Hypernaturemia 3. Hypertension 4. Anasarca |
|
Neoplasm derived from chromaffin cells of sympathetic nervous system
|
Pheochromocytoma
|
|
Signs & symptoms of pheochromocytoma? (4)
|
1. Hypertension
2. Tachycardia 3. Anxiety, headaches 4. Diaphoresis |
|
Most neuroblastomas arise where?
|
Adrenal medulla
|
|
Most common extracranial tumor of childhood?
|
Neuroblastoma
|
|
Neuroblastoma produces catecholamines but does it produce symptoms?
|
NO symptoms due to catecholamines
|
|
Elevated Urine levels of vanillylmandelic acid & homovanillic acid ?
|
Neuroblastoma
|
|
Clinical signs & symptoms of Multiple Endocrine Neoplasia Syndrome Type IIB? (3)
|
1. Marfanoid habitus
2. Dolichofacies w/ full lips 3. Multiple neoplasms -Multiple neuromas of oral & eye -Medullary carcinoma of thyroid -Pheochromocytoma |
|
Impaired epiphyseal cartilaginous growth resulting in short limbs but normal head & torso
|
Achondroplasia (achondroplastic dwarfism)
|
|
Abnormalities in type I collagen syntehsis due to multiple gene mutations- fractures & defromitiy, blue sclera & dentinogenesis imperfecta
|
Osteogenesis imperfecta
|
|
Reduction in bone mass of postmenopausal females (most commonly) due to imbalance of bone resorption/restorating- predisposed to pathologic fractures
|
Osteoporosis
|
|
Most common sites for fracture of osteoporosis?
|
Vertebral bodies, radius, femoral neck
|
|
Overproduction of osteoid before epiphyses close in children due to a lack of Vitamin D
|
Rickets
|
|
Characteristic skeletal lesions caused by excess osteoid in children with Rickets? (6)
|
1. Frontal bossing
2. "Rachitic rosary" & pigeon breast 3. Lumbar lordosis 4. Bowing of legs 5. Pathologic fracture (uncommon) 6. Enamel hypoplasia/delayed eruption possible |
|
Lack of mineralization of newly formed bone in adults resulting in soft, weak bones & pathologic fracture due to lack of Vitamin D?
|
Osteomalacia
|
|
Generalized bone loss & replacement by fibrous tissue
-Radiographic: ground glass -Brown tumors of hyperparathyroidism -Pathologic fracture possible |
Osteitis Fribrosa Cystica
Hyperparathyroidism of bone Von Recklinghausen disease of bone |
|
Combination of osteitis fibrosa cystica & osteomalacia caused by chronic renal failure, complicated by aluminum toxicity
|
Renal osteodystrophy
|
|
Most common route of infection of pyogenic osteomyelitis?
|
Hematogenous spread
|
|
Most common organism found in pyogenic osteomyelitis?
|
S. aureus
|
|
What organism is found in pyogenic osteomyelitis of pts w/ sickle cell disease?
|
Salmonella
|
|
Islands of dead bone surrounded by bacteria & pus
|
Sequestrum
|
|
3 stages of disease of Paget disease of bone?
|
1. Initial osteolytic phase
2. Mixed stage of osteolysis & osteogenesis 3. Inactive, burned out sclerotic phase |
|
Pathogenesis of paget disease of bone? (2)
|
Maybe viral infection
-Paramyxovirus- measles, RSV Genetic- Chromosome 18q |
|
Bone pain, bone deformity, swelling, increasing hat size, pathologic fractures common, pts over 40
|
Paget disease of bone (Osteitis deformans)
|
|
Radiographic mixed lesions w/ cotton wool appearance
Histo: Prominent reversal lines |
Paget disease of bone (Osteitis deformans)
|
|
Markedly elevated serum alkaline phosphatase is found in which disease?
|
Paget disease of bone (osteitis deformans)
|
|
Which form of fibrous dysplasia is more common?
|
Monostotic fibrous dysplasia
|
|
Monostotic fibrous dysplasia vs. Polyostotic fibrous dysplasia
|
MONOSTOTIC:
-One bone -Adolescents -Stops when growth complete POLYOSTOTIC: -Young children -Multiple bones -Can continue into adulthood -Pathologic fracture possible |
|
Polyostotic disease w/ associated endocrinopathy (3)
|
1. Unilateral multiple bone lesions
2. Cafe au lait skin unilateral 3. Precocious sexual development (McCune Albright syndrome) -Less common: hyperthyroidism, Cushing syndrome, acromegaly |
|
Focal areas of disordered maturation of bone leaving loose, whorled fibrous tissue punctuated by haphazard islands & strands of woven bone
|
Fibrous dysplasia
|
|
MOST --> LEAST common primary sources of metastases to bone (6)
|
1. Prostate
2. Breast 3. Lung 4. Renal 5. Colon 6. Thyroid |
|
MOST --> LEAST common sites of metastasis in bone? (4)
|
1. Vertebral column
2. Ribs 3. Skull 4. Pelvis |
|
Most metastases appear as radiolucencies due to bone destruction, which 2 may stimulate bone growth & appear as opaque/mixed lesions?
|
1. Breast
2. Prostate |
|
Lateral growth of epiphyseal cartilage or remnants of cartilage that present as mushroom-shaped lateraly boney projects
Site: Metaphyseal regions of long bones |
Osteochondroma
|
|
Benign tumor of hylaine cartilage that are almost always located interior of bone & are common in small bones of hand & feet
|
Chondroma (outside bone)
Endochondroma (inside bone) --> more common |
|
What syndrome has multiple chondromas accompanied by hemangiomas of skin?
|
Maffuci syndrome
|
|
What syndrome has multiple endochondromas in childhood?
|
Enchondromatosis (Ollier disease)
|
|
Males, under 20 (5-10 yrs), exquisitely painful bone lesions relieved by aspirin
-Radiographic: bulls eye lesion |
Osteoid osteoma
|
|
20-40 yrs
Pain in epiphyses of long bones -X-ray: Soap bubble appearance -Histo: indistinguishable from brown tumor of hyperparathyroidism |
Giant cell tumor
|
|
Most common primary bone cancer?
|
Osteosarcoma (osteogenic sarcoma)
|
|
Pathogenesis of osteosarcoma?
|
-Genetic
-RB gene- tumor suppressor gene -Homozygous deletion of 13q14 where Rb gene is located |
|
Predisposing factors to osteosarcoma? (2)
|
1. Paget disease of bone
2. Previous radiation |
|
Sunburst pattern is characteristic of?
|
Osteosarcoma
|
|
Hallmark of osteosarcoma?
|
Direct formation of osteoid or bone by tumor cells
|
|
Second most common primary cancer of bone?
|
Chondrosarcoma
|
|
>35 yrs, males
-X-ray: snowstorm densities -Well differentiated, difficult to distinguish from endochondroma -Large pleomorphic or bizarre binucleated chondrocytes |
Chondrosarcoma
|
|
Children & young adults (10-15 yrs)
Long bones Local pain, tenderness fever Rapidly gorwing tumor -Xray: Onion skin |
Ewing sarcoma
|
|
Reciprocal translocation between chromosomes 11 & 22 can be used as a marker for?
|
Ewing sarcoma
|
|
MOST --> LEAST common MALIGNANCIES occurring in BONE? (6)
|
1. Metastatic
2. Multiple myeloma 3. Osteosarcoma 4. Chondrosarcoma 5. Ewing sarcoma 6. Malignant giant cell tumor |
|
Circumscribed flat skin lesion of differing color than normal skin
|
Macule
|
|
Elevated skin lesion <5mm across
|
Papule
|
|
Elevated skin lesion more than 5mm across
|
Nodule
|
|
Mildly elevated skin lesion w/ level surface >5mm across
|
Plaque
|
|
Fluid-filled raised skin lesion <5mm across
|
Vesicle
|
|
Fluid filled raised skin lesion >5mm across
|
Bulla
|
|
Increased thickness of surface keratin layer
|
Hyperkaratosis
|
|
Pattern of hyperkeratosis characterized by retention of nuclei
|
Parakeratosis
|
|
Epidermal hyperplasia = thickening of spinous epithelial layer
|
Acanthosis
|
|
Abnormal keratinization occuring prematurely within individual cells or groups of cells below stratum granulosum
|
Dyskeratosis
|
|
Loss of intercellular connections resulting in loss of cohesion of keratinocytes
|
Acantholysis
|
|
Intercellular edema of epidermis
|
Spongiosis
|
|
Which type of dermatitis is NOT immune mediated?
|
Primary irritant dermatitis
-Repeated trauma (rubbing)/chemical injury |
|
Pathogenesis of erythema multiforme?
|
Immune response- hypersensitivity rxn
-Type I (eosinophils) -Type II (cytotoxic T cells) |
|
Most common trigger of erythema multiforme?
|
Infections (Herpes)
Others: -drugs, malignancies, autoimmune diseases |
|
Target lesion is pathognomonic for which disease?
|
Erythema multiforme
|
|
Internediate form of erythema multiforme?
|
Steven-Johnson syndrome
-Extensive & symptomatic febrile -Skin & mucosal surfaces inolved -Self limited but can be life-threatening |
|
Severe, life-threatening form of erythema multiforme?
|
Toxic epidermal necrosis
|
|
Well-demarcated pink & salmon colored plaque covered by loosely adherent silver-white scales
|
Psoriasis
|
|
+ Autspitz sign indicates which disease?
|
Psiorasis
-Granular cell layer thin or abset so dermal papillae are close to surface --> leave pnpoint bleeding |
|
Munro's microbscesses are pathognomonic for which disease?
|
Psoriasis
|
|
Pathogenesis of lichen planus?
|
Ag in basal cell layer at dermal-epidermal junction --> cell mediated cytotoxic immune response
|
|
What are the "4 P's" & what disease are they found in?
|
LICHEN PLANUS
1. Pruritis 2. Purple 3. Polygonal 4. Papules |
|
Striae of Wickham are found in which disease
|
Lichen planus
|
|
Classic prototype of systemic autoimmune diseases?
|
Lupus erythematosus
|
|
Pathogenesis of lupus erythematosus?
|
Antinuclear auto-Ab
|
|
Pathogenesis of pemphigus vulgaris?
|
Type II hypersensitivity
-Auto Ab (IgG) to desmoglein 1 & 3 -Desmosomes -Suprabasal (intraepithelial) blister |
|
Which disease is most like to produce acantholysis & Tzank cells?
|
Pemphigus vulgaris
|
|
Pathogenesis of bullous pemphigoid?
|
Auto Ab (IgG) to hemidesmosome
-Subepidermal vesicle -Complement activation |
|
Positive nikolsky sign ?
|
Bullous pemphigoid
Benign mucous membrane pemphigoid |
|
Which bullous disease is common in the oral cavity & rarely involves the skin?
|
Benign Mucous Membrane Pemphigoid
|
|
Soft flesh colored tag-like tumor w/ small stalk found in middle age or older- one of most common skin lesions
|
Skin tag (Acrocordon, Fibroepithelial polyp)
|
|
Multiple dark brown sharply defined coin-like plaques found on exposed parts of skin with "stuck on" appearance that may peel of but reutrn?
|
Seborrheic Keratosis
-NO risk of skin cancer |
|
White men >50, flesh- colored, dome shaped nodule w/ keratin plug on sun-exposed skin-- Mimics SCC but spontaenously heals
|
Keratoacanthoma
|
|
Common skin wart
|
Verruca vulgaris
|
|
Veneral wart?
|
Condyloma accuminata
|
|
Which benign skin tumor is dysplastic and has the potential to become malignant?
|
Actinic keratosis
|
|
Most common cancer of vermillion lip (sun exposed sites)?
|
Squamous cell carcinoma
|
|
Most common skin cancer?
|
Basal cell carcinoma
|
|
Best prognosis of all skin cancers?
|
Basal cell carcinoma
|
|
Well demarcated areas of pigment loss due to melanocytes in epidermis?
|
Vitiligo
|
|
Most common pigmented lesions of childhood due to hyperpigmentation & increased amounts of melanin?
|
Ephilides
|
|
Congenital or acquired hamartomas of melanocytes that usually develop during childhood or early adulthood?
|
Melanocytic Nevus (pigmented nevus, mole)
|
|
Junctional nevus is found?
|
Dermal-epidermal junction
|
|
Compound nevus is found?
|
Upper dermis & dermal-epidermal junction
|
|
Dermal nevus is found?
|
Upper dermis only
|
|
Most common site for melanoma of women & men?
|
Women- back & legs
Men- upper back |
|
Melanoma does not have capacity to to metastasize in which growth phase?
|
Radial growth phase
-proliferate in epidermal & superficial dermal layers |
|
WHich growth phase does melanoma have potential to metastasize?
|
Vertical growth phase
-Proliferates downward into deeper dermal layers |
|
Disorders related to mutation of a single gene of large effect
|
Mendelian
|
|
Diseases arising from chromosomal abberations that are identifiable on a karyote
|
Cytogenic (chromosomal) disorders
|
|
Triple repeat mutations in mitochondrial genes & genomic imprinting
|
Single-gene disorders w/ atypical patterns of inheritance
|
|
Single gene mutation causing many phenotypic effects
|
Pleiotropy
|
|
Single gene mutation at any of several different gene pairs may cause same phenotypic disease.
|
Genetic heterogeneity
|
|
Most common autosomal dominant disorder?
|
Familial hypercholesterolemia
|
|
What is the defect of familial hypercholesterolemia?
|
Defect in LDL receptor on hepatocytes
|
|
What is the mutation in Marfan syndrome?
|
Fibrillin 1
FBN1 on chromosome 15q21 |
|
Pathogenesis of Marfan syndrome?
|
Defects in fibrillin that cause skeletal problems, & cardiovascular problems:
1. Dissecting aneurysm 2. Floppy heart valve |
|
What is the defect in Neurofibromatosis type I?
|
Mutation in NF1 gene (tumor suppressor gene)
-Neurofibromin negatively regulates RAS oncoprotein -Mutation --> overactivity of RAS resulting in tumors |
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Multiple neurofibromas
Cafe-au-lait spots Lisch nodules (pigmented hamartomas of iris) Malignant transformation 3% |
Neurofibromatosis type I (Von Recklinghausen disease of skin)
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Most common lethal genetic disease in US?
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Cystic fibrosis
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What is the defect of cystic fibrosis?
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Mutations of CFTR gene at chromosome 7q31.2
-Code for chloride channel proteins -Defects in transport across epithelial surfaces |
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-Onset: infants & young kids
-Viscous mucous secretions -Salty sweat -Recurrent & chronic lung infections (Bronchiectasis & chronic bronchitis) -Pancreatic insufficiency & malabsorption -Biliary cirrhosis |
Cystic fibrosis
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What is the defect of phenylketonuria?
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Autosomal recessive
-Severe lack of phenylalanine hydroxylase -Phe doesn't get converted to Tyr -Phe accumulates in serum |
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Onset within weeks of birth
Severe mental retardation if not treated, seizure disorder, decreased pigmentation of hair & skin, skin rash |
Phenylketonuria
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What is the treatment for Phenylketonuria? (2)
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1. No Phe in diet 1st 2 yrs of life
2. BH4 (helps break down Phe) |
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Onset within days of birth
-Failure to thrive, vomiting, diarrhea -Hepatomegaly & jaundice (1 month) -Cataracts -Mental retardation w/ in 6-12 months |
Galactosemia
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What is the defect of galactosemia?
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Lack of galactose-1-phosphate uridyl transferase
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What is the defect of Tay-Sachs disease?
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Deficiency of hexosaminidase A which causes Gm2 gangliosides to be stored in CNS
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Severe mental retardation in infancy, blindness & severe neurologic dysfunction, death by 2-3 yrs
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Tay-Sachs disease
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Most common type of Niemann-Pick disease?
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Type A Niemann-Pick disease
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What causes Niemann-Pick disease?
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Deficiency of acid sphingomyelinase
-Excess sphingomyelin accumulates in phagocytic cells & neurons |
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Severe deficiency of acid sphingomyelinase
-Severe visceromegaly: spleen, liver, BM, LN, lungs -Neurologic deterioration -Death by 3 yrs old |
Type A Niemann-Pick disease
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Defiency of acid sphingomyelinase
-hepatomegaly & splenomegaly -CNS not affected -Survive into late childhood/early adulthood |
Type B Niemann-Pick disease
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"Wrinkle tissue paper" cytoplasm is pathognomonic for which disease?
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Gaucher disease
-Glucsylceramides accumulate in phagocytic cells to form Gaucher cells |
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What is the defect of Gaucher disease?
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Deficient activity of glucosylceramidase
-Cleave glucose residue from ceramide -Glucsylceramides accumulate in phagocytic cells to form Gaucher cells |
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Which variant of Gaucher disease feaures no CNS involvement, is compatible w/ long live & features bone involvement & hepatosplenomegaly?
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Type I- Most common
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Which type of Gaucher disease has severe CNS involvement that manifests by 6 months of age?
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Type II
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Juveline form of Gaucher disease that involves CNS & viscera-- an Intermediate form?
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Type III
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Group of diseases w/ abnormal degredation & accumulation of mucopolysaccharides
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Mucopolysaccharidoses
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Major manifestations of hepatic forms of glycogen storage diseases? (2)
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1. Hepatomegaly
2. Hypoglycemia |
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Major manifestations of myopathic forms of glycogen storage diseases? (2)
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1. Muscle cramps/weakness
2. Reduced production of lactate |
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Von-Gierke disease results from?
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Lack of glucose-6-phosphatase
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McCardle syndrome results from?
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Reduced muscle phosphorylase
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Pompe disease results from?
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Generalized lysosomal glucosidase (acid maltase) defiency
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Major findings of pompe disease?
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1. Hepatomegaly
2. Cardiomegaly 3. Skeletal muscle glycogen deposities |
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3 Glycogen storage diseases?
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1. Von Gierke disease (hepatic)
2. McArdle syndrome (myopathic) 3. Pompe disease (generalized- also lysosomal storage disease) |
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Ehlers-Danlos syndromes are group of syndromes all caused by mutations of?
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Defects in collagen structure/synthesis
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Mutation in COL3A1 causes deficient synthesis of?
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Type II collagen --> vascular type of Ehlers-Danlos syndrome
Autosomal dominant |
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Mutation in COL1A1 & COL1A2 causes defect in?
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Conversion of procollagen type I to collagen
-Arthrochalasia type EDS -Autosomal dominant |
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What are internal complications of Ehlers-Danlos syndrome? (4)
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1. Rupture of large arteries
2. Rupture of colon 3. Rupture of cornea & retinal detachment 4. Diaphragmatic hernia |
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What is the defect in Fragile X syndrome?
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Mutation in FMR1 gene on Xq27.3
X-linked disorder |
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What percent of females are affected by fragile X syndrome?
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50% of heterozygous females are affected
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What percent of males have fragile X syndrome mutation are asymptomatic?
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20% males are asymptomatic
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Mental retardation
Long face, large mandible, large everted ears, large testicles |
Fragile X syndrome
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Most common cause of familial mental retardation?
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Fragile X syndrome
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In chromosome anatomy, what does metacentric mean?
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p & q arms are equal length
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In chromosomal anatomy, what is submetacentric?
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p arm shorter than q arm
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IN chromosome anatomy what is acrocentric?
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p arms are very short & have satellites
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Two or more karyotypic populations of cells in the same individual, occurring more commonly in sex chromosomes
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Mosaicism
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When fragments are exchanged between 2 chromosomes & no genetic material is lost?
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Balanced reciprocal translocation
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Type of reciprocal translocation that always occurs between 2 acrocentric chromosomes?
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Robertsonian translocation
(Centric fusion) |
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Centromere divides transversely so that 2 short arms are paired & 2 long arms are paired
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Isochromosomes
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Loss of a portion of a chromosome
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Deletion
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2 breaks on the same arm of chromosome
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Para-inversion
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2 breaks on different arms of chromosome
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Peri-inversion
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Deletions occur at both ends of a single chromosome & damaged ends fuse
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Ring chromosome
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Most common cytogenic disorder?
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Trisomy 21
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Most cases the extra 21 chromosome comes from?
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Mom
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Mental retardation
Flat face & epicanthal folds Horizontal palmar (Simian) crease Hypotonia Congenital heart defects Predisposition to infections & acute myelogenous leukemia |
Trisomy 21
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Most common congenital heart defect in trisomy 21?
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Atrial septal defect
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Mental retardation
Failure to thrive Prominent occiput Low set ears, micrognathia Hypertonicity, heart defects Horse-shoe kidney Rocker bottom feet Crossed fingers Die shortly after birth |
Trisomy 18 (Edwards syndrome)
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Mental retardation
Microcephaly, micropthalmia Cleft lip & palate Rocker bottom feet Abnormal ears, extensive visceral defects Polydactyl |
Trisomy 13 (Patau Syndrome)
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Male hypogonadism (small testes, sterile, low testosterone)
Gynecomastia Reduced facial & body hair Elongated body Mild decreasted intelligence |
Klinefelter syndrome
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Failure to develop secondary sex charactersistics
Short stature, webbed neck & low posterior hairline Broad (shield) chest Streak ovaries, primary amenorrhea, infertility Coarctation of aorta High arched palate |
Turnor syndrome
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