Pathology Section - NBCE Part I Board Review Exam Study Guide, Exams of Pathology

Download Pathology Section - NBCE Part I Board Review Exam Study Guide and more Exams Pathology in PDF only on Docsity! PATHOLOGY SECTION - NBCE Part I Board Review Exam Study Guide (326 Terms) 1. Metastatic calcification - Correct answer Calcium infiltration into *normal tissue* (Hypervitaminosis D) 2. Dystrophic calcification - Correct answer Calcium infiltration into *abnormal tissue* (atherosclerosis, atheroma) 3. Caseous degeneration - Correct answer Degeneration associated with tuberculosis 4. Enzymatic degeneration - Correct answer Degeneration associated with the pancreas 5. Fatty degeneration - Correct answer This degeneration is seen in the liver (nutmeg liver)and heart (tabby cat heart). In blood vessels, it begins as a fatty dot -> fatty streak -> atheroma (fatty plaque) -> fibroatheroma (fibrous tissue, calcium) P a g e 1 | 54 6. Liquifactive degeneration - Correct answer This type of degeneration occurs in the CNS (brain melts, tertiary syphilis, leprosy) and skin (from an infection) 7. Wallerian degeneraation - Correct answer This type of degeneration affects peripheral nerves. Degeneration occurs from node of Ranvier to node of Ranvier. It causes the "dying back" phenomenon. 8. Zenker's (Waxy) degeneration - Correct answer This type of degeneration is most common in skeletal muscle, and muscle is replaced with hyaline 9. Karyolysis - Correct answer This is nuclear rupture 10. Karyorrhexis - Correct answer This is nuclear swelling 11. Pyknosis - Correct answer This is nuclear condensation 12. Atrophy - Correct answer This is decrease in size. Most commonly seen in muscle P a g e 2 | 54 26. Anthracosis - Correct answer This pneumoconiosis is black lung disease fro miners. Caplan's syndrome occurs when it is combined with RA 27. Histomycosis/Histoplasmosis - Correct answer This pneumoconiosis is formed by an endemic fungus in the Mississippi or Ohio valleys. Referred to as "Mississippi valley fever" or "Ohio valley fever" 28. Coccidiomycosis - Correct answer At his pneumoconiosis is caused by endemic fungus in the southwest. AKA "San Joaquin Valley fever" or just "Valley Fever" 29. Blastomycosis - Correct answer This pneumoconiosis is formed by an endemic fungus on the eastern seaboard from Florida to Nova Scotia 30. Asthma - Correct answer this lung disease produces sputum that yields "Curshmann's Spirals" or "Charcot Leyden crystals" 31. Cystic fibrosis - Correct answer This lung disease affects chloride channels. Can cause "salty baby syndrome", because of presence of sodium in sweat. Affects GI/Respiratory mucus longings and exocrine secretions. Susceptible to *Pseudomonas aeruginosa*. Lung transplants required P a g e 5 | 54 32. Hemosiderosis - Correct answer Lung disease involving iron in the lung due to bleeding 33. Pulmonary fibrosis - Correct answer Lung disease causing "honeycomb lung" 34. Tuberculosis - Correct answer Lung disease involving caseous necrosis of the lung with "Ghon complex/lesions". Granulomas are present. Epithelial is histiocytes are present. 35. If it spreads to the spine, Pott's disease occurs". If vertebra collapse from TB, they cause a *"Gibbus deformity"* 36. Gibbus deformity - Correct answer What deformity occurs when a vertebra collapses from TB infection? 37. Wegener's granulomatosis - Correct answer Lung disease involving vasculitis of the lung and kidney 38. Emphysema - Correct answer Lung disease involving *Alpha 1 antitrypsin deficiency* - associated with protease/antiproteases theory P a g e 6 | 54 39. Azotemia - Correct answer Renal disease involving decreased tubular excretion of nitrogen (so there is increased nitrogen in the blood) 40. Hydronephrosis - Correct answer Renal disease most commonly caused by prostate problems or ureter stones 41. Kidney stones - Correct answer Renal disease known as "nephrolithiasis". Most common type is formed by *calcium oxalates*. 42. Pain pattern starts in the back, radiates to the flanks. When in the ureters, pain localized to the groin 43. Groin - Correct answer When pain is localized here, it is indicative of kidney stones in this area 44. Nephritic syndrome - Correct answer Renal disease where RBCs and small amounts of protein are found in the urine. Eg - acute glomerulonephritis 45. Nephrotic syndrome - Correct answer Renal disease known as "pre-eclampsia". Involves "HEP" - hypertension, edema, and massive proteinurea. P a g e 7 | 54 59. Endometriosis - Correct answer Urogenital disease most commonly found in the ovary 60. Epispadias - Correct answer Urogenital disease where the urethra exits on the dorsal surface of the penis 61. Hypospadias - Correct answer Urogenital disease where the urethra opens on the ventral surface of the penis 62. Leiomyoma - Correct answer Urogenital disease involving a tumor of smooth muscle/fibroids in the uterus 63. Polycystic ovary disease (PCOD) - Correct answer Urogenital disease involving anovulation, obesity, and hirsutism (excess hair on the body/face) 64. Seminoma - Correct answer Cancer of the testes, most common cause of testicular cancer. Involves mesenchymal/stem cells 65. Hutchison's teeth 66. Rhagades P a g e 10 | 54 67. Saddle nose deformity 68. Sabre blade tibia 69. Interstitial keratitis - Correct answer These are the 5 signs of *congenital syphilis*: 70. *Hard*, singular *painless* nodule (chancre) on the perineum - Correct answer This is the sign of *primary acquired syphilis*: 71. Maculopapular rash and condylomata lata (flat warts on the vulva) - Correct answer These are the signs of *secondary acquired syphilis*: 72. True - Correct answer True or false: during the latent period, someone itch acquired syphilis may or may not have symptoms: 73. Tabes dorsalis, aortic aneurysm, gum as inclusion bodies in the CNS - Correct answer These are signs of *tertiary acquired syphilis*: 74. Adie's pupil - Correct answer This is tonic pupil dilation (mydriasis) due to injury to *CNIII Edinger Westphal nucleus*: P a g e 11 | 54 75. Miosis - Correct answer This is tonic pupil constriction due to injury to sympathetic cervical ganglia: 76. Chancroid - Correct answer This is a *soft, painful* thing caused by *Haemophilus ducreyi* (a gram negative coccobacillus) 77. Gardnerella vaginalis - Correct answer This general disease is similar to Trichomonas, except that it is bacterial: 78. Gonorrhea - Correct answer This is caused by a *gram negative diplococcus*, and is the *most common cause of PID/Salpingitis*. 79. It causes *burning urination*, *yellow/green pus*, in urine, or *arthritis/DJD in the knee* 80. *Coffee bean shaped* on microscopy 81. Lymphogranuloma venereum - Correct answer This is caused by chlamydia and causes *rectal strictures*, and can be diagnosed with the *Frei test*: 82. Trichimonas - Correct answer This venereal disease causes Purulent vaginal discharge that is green and frothy. It smells like foul fish. P a g e 12 | 54 96. Dysphagia - Correct answer This is difficulty swallowing 97. Enteritis - Correct answer This is the most common cause of death in children worldwide because it causes severe dehydration from diarrhea 98. Hemorrhoids - Correct answer These are the most common cause of frank red blood in the stool 99. Hirschprung's - Correct answer This is *congenital megacolon* 100. Intussuseption - Correct answer This is telescoping of the intestine onto itself, which can be caused by rotavirus vaccine 101. Irritable bowel - Correct answer This is a spastic colon, distention, pain, diarrhea, and is usually stress related 102. Mallory-Weiss syndrome - Correct answer This is hematemesis (vomiting of blood) due to alcoholism. It involves lacerations of the esophagus and the proximal stomach P a g e 15 | 54 103. Meckel's diverticulum - Correct answer These are outpatchings of the distal ileum 104. Peutzjegher's - Correct answer This is polyposis characterized by polyps in the entire GI tract 105. Plummer Vinson syndrome - Correct answer This is iron deficiency anemia, cheliosis, *esophageal webbing* and glossitis 106. Pyloric stenosis - Correct answer This results in infant projectile vomitting in a newborn 107. Sliding hiatal hernia - Correct answer This results from an anatomically shortened esophagus 108. Steatosis - Correct answer this is fat in the stool, resulting from a problem with the gallbladder 109. Ulcerative colitis - Correct answer This is also known as *toxic megacolon*. It results in pathological intestinal changes, ulcers, *bloody diarrhea, affects the left side of the abdomen* (descending/sigmoid colon), and *lead pipe rigidity*. P a g e 16 | 54 110. It starts at the colon and moves distaally 111. Volvulus - Correct answer This is twisting of an organ around its long axis 112. Zenker's diverticulum - Correct answer These are outpatchings of the pharynx 113. Diabetes insipidus - Correct answer This metabolic disorder involves *decreased ADH* due to a *posterior pituitary problem*. It causes *dehydration* 114. Polydipsia (increased thirst) 115. Polyurea (increased urination) 116. Polyphagia (increased hunger) - Correct answer What does diabetes mellitus cause (symptomatically)? 117. Diabetes mellitus - Correct answer This is decreased production of insulin by beta cels in the pancreas (islets of langerhaans). It is first seen in the eyes, and patients most commonly die from heart disease or kidney failure. P a g e 17 | 54 131. Oligodendroglioma - Correct answer These brain tumors are the slowest growing, and affect the cerebrum 132. Schwannoma - Correct answer These brain tumors are "onion bulb tumors", and are the most common cause of unilateral sensorineural hearing loss 133. Friedreich's ataxia - Correct answer This nervous system disease is associated with sclerotic lesions of the spinocerebellar tract (neurofibrillary tangles). It is associated with chromosome 9 134. Chromosome 9 - Correct answer Which chromosome is Friedreich's ataxia associated with? 135. Guillian-Barre syndrome - Correct answer This nervous system disease is also known as *post-infectious polyradiculopathy*, and is most commonly seen after a recent flu or vaccination. It is a *peripheral demyelinating disease*, causing *areflexia* and *ascending paralysis*. Fatal if it reaches the diaphragm 136. Horner's syndrome - Correct answer This nervous system disease involves interruption of cervical sympathetics (either by trauma or Pancoast tumor). P a g e 20 | 54 137. Symptoms: ptosis, miosis, anhydrosis and enopthalmosis 138. Leprosy - Correct answer This CNS disease is also known as "Hansen's disease"; involves liquefactive necrosis of the brain, skin damage, and destruction of sensory nerves 139. Multiple sclerosis - Correct answer CNS disease involving central demyelinization and plaquing of the spinal cord/brain. 140. Involves *Charcot's triad* (SIN) - scanning speech, intention tremors, and nyastagmus. Characterized by exacerbation and remissions. Causes visual disturbances and effects distal muscles. Affects *corticospinal tracts*. 141. Corticospinal tracts - Correct answer What tracts are affected by multiple sclerosis? 142. Charcot's triad - Correct answer What triad is named for scanning speech, intention tremor, and nystagmus, as like what is associated with multiple sclerosis? 143. Myasthenia gravis - Correct answer This CNS disease is caused by formation of antibodies that block Ach receptors at the myoneural junction. Thymic enlargement occurs (thymoma). P a g e 21 | 54 144. It causes *progressive weakness and fatigue*. It first starts in ocular muscles, is worse by the end of the day. The jaw is tight and sore. Autoimmune related, mostly affecting females 20-40 yoa 145. Neurofibromatosis - Correct answer CNS disease, AKA "Von Reckinghausen's diseasae"- Involves Cafe au Lait spots, "Coast of California" appearance 146. Onion bulb tumor - Correct answer This CNS tumor is a Schwann cell tumor 147. Parkinson's (Paralysis agitans) - Correct answer This CNS disease is a problem with dopamine in the basal ganglia. There are inclusion bodies (Lewy bodies). Presents with masked faces, stooped posture, resting tremors, and festinating/shuffling gait and propulsive gait. Cogwheel rigidity. *Substantia nigra of mesencephalon is affected* 148. PLS (posterolateral sclerosis) - Correct answer This CNS disease is known as "combined systems disease". It affects Dorsal columns and the corticospinal tract, and results from either *long term pernicious anemia* (decreased intrinsic factor) or *decreased vitamin B12* P a g e 22 | 54 163. Chondroma - Correct answer This is a benign tumor of cartilage 164. Chordoma - Correct answer This cancer is most commonly seen in the sacrum, and crosses joints 165. Colorectal cancer - Correct answer This type of cancer is most commonly found in the US 166. Cryptorchidism - Correct answer This is absence of one or both testicles caused by failure of descent. It can cause testicular cancer 167. Enchondroma (Oiler's disease) - Correct answer Benign hand tumor with stipples calcification. when associated with soft tissue swelling and a bone deformity, it is called Maffuci's syndrome 168. Maffuci's syndrome - Correct answer Enchondromatosis, soft tissue swelling, and bone deformity together cause this syndrome P a g e 25 | 54 169. Ewing's sarcoma - Correct answer Multi-laminated (onion skin appearance) tumor causing cortical saucerizaation. Affects *children, 10-25*. Forms a moth-eaten appearance in the medulla, *mimicking osteomylitis* 170. Fibroadenoma of the breast - Correct answer this is the most common breast tumor, associated with estrogens 171. Fibroma - Correct answer This tumor involves myxomatous tissue with spindles and polyhedral cells 172. Fibrous dysplasia - Correct answer Benign tumor with ground- glass appearance. Cafe au Lait "Coast of Maine" appearance. 173. With early puberty = Albright's disease 174. Monostotic form = rind sign or rind of sclerosis 175. Giant cell tumor - Correct answer Tumor of osteoclasts (Osteoclastoma). Most common in the knee. Quasi-malignant. Most common in the epiphyseal/metaphyseal regions of 20-40 year olds 176. Hemangioma - Correct answer Benign tumor of blood vessels, most commonly found in the spine P a g e 26 | 54 177. Hepatocellular liver cancer (Hepatoma) - Correct answer Most common primary liver cancer 178. Hodgkin's lymphoma - Correct answer Tumor associated with Pel-Ebestein fever, Reed Sternberg cells, hepatosplenomegaly, and enlarged lymph nodes. Associated with increased IgE 179. Krukenberg's - Correct answer Cancer of the stomach that metastasizes to the ovaries; signet ring tumor 180. Leiomyoma - Correct answer Tumor of smooth muscles; associated with fibroids in the uterus 181. Leukoplakia - Correct answer Cancer associated with white patches on the oral mucosa that can't be wiped off (precancerous). From tobacco 182. Lipoma - Correct answer Fatty tumor 183. Adenocarcinoma - Correct answer Most common lung cancer associated with *non smokers*; best prognosis P a g e 27 | 54 199. Osteoid osteoma - Correct answer This tumor involves pain that is *worse at night* and is relieved by aspirin. It affects 15-25 year olds, and is identified as a radiolucent nidus with reactive sclerosis 200. Osteoma - Correct answer This is the most common benign tumor of the skull, and is most common in the *frontal sinus* 201. Osteomyelitis - Correct answer This involves sequestered, involucrum and cloaca. The most common cause is *Staph aureus* 202. Brodie's abscess - Correct answer When osteomyelitis becomes chronic, it is known as: 203. Osteosaroma - Correct answer This is the most common primary bon cancer in children (10-30 yoa) 204. Pancreatic cancer - Correct answer This cancer has the *worst prognosis* and is *very painful* 205. Papilloma - Correct answer This condition is associated with *warts* P a g e 30 | 54 206. Pheochromocytoma - Correct answer This is neuroblastoma - a benign tumor of the adrenal medulla, causing *episodic hypertension* 207. Rhabdomyoma - Correct answer This is a tumor of striated or heart muscle 208. Sarcoma - Correct answer This is cancer of *connective tissue*, usually spread by the *vascular system* 209. Vascular system - Correct answer What usually spreads sarcoma cancer cells from one site to another? 210. Simple/Unicamereal bone cyst - Correct answer SBC or UBC. Benign bone tumors affecting the *metaphysis* and *diaphysis*. Concentric. involves "Fallen Fragment sign". Affects <20 year olds. Found in *long bones* 211. Stomach cancer - Correct answer Cancer most commonly found in the *lesser curvature* of the stomach. Involves a "leather- bottle" shaped stomach presentation: P a g e 31 | 54 212. Teratoma - Correct answer This is a tumor involving all 3 germinal layers 213. Virchow's nodes - Correct answer These involve *enlarged supraclavicular lymph nodes* due to metastasis, usually from the *GI tract*, usually found on the *left side* 214. Wilm's tumor - Correct answer This is a nephroblastoma; mixed tumor of the *kidney* in childern 215. Xanthoma - Correct answer This is a *yellow* tumor of connective tissue 216. Anoxia - Correct answer This is absence of oxygen 217. Hypoxia - Correct answer This is deficiency of oxygen 218. Septicemia - Correct answer These are pathogens/toxins in the blood, including bacteremia P a g e 32 | 54 233. Bradykinin - Correct answer What substances are required to dilate blood vessels in the vasodilation phase of inflammation? 234. Stage 4 (swelling/edema) - Correct answer This stage of inflammation involves cells moving into a *damaged* area via chemotaxis (diapedesis/extravasation) 235. Stage 5 (healing) - Correct answer This stage of inflammation involves *mast cells* making *heparin and serotonin*. 236. Serotonin - Correct answer This is produced by *mast cells* during the *healing stage* of inflammation. They are for wound healing, and stimulating myofibroblast , which form *type 3 collagen* for early wound healing 237. Fibrin - Correct answer This forms a scar 238. Bradykinin 239. Histamine - Correct answer These inflammatory substances cause vasodilation (increase inflammation) 240. Leukotrienes P a g e 35 | 54 241. Prostaglandins 242. Substance P - Correct answer These inflammatory substances are part of the inflammation pathway (increasing inflammation) 243. Enkephalins 244. Endorphins - Correct answer These inflammatory substances are for pain control (decreasing inflammation) 245. NSAIDs` - Correct answer These are non steroidal anti inflammatories. They are COX inhibitors 246. Steroids - Correct answer These are phospholipase A2 inhibitors (such as prednisone). They decrease inflammation 247. Basophil - Correct answer This immune cell becomes a *mast cell*. It makes *histamine, bradykinin, serotonin, and heparin* 248. B-lymphocytes - Correct answer These immune cells *transform into plasma cells* which *make antibodies* 249. Plasma cells - Correct answer What make *antibodies*? P a g e 36 | 54 250. Granulocytes - Correct answer These immune cells include *basophils, eosinophils, and neutrophils* (BEN) 251. Agranulocytes - Correct answer These immune cells include *lymphocytes and monocytes* 252. Macrophage - Correct answer These immune cells are *monocytes& at the tissue level. 253. Kuppfer cells - Correct answer These are macrophage in the liver 254. Dust cells - Correct answer These are macrophage in the lung 255. Microgla - Correct answer These are macrophage in the brain 256. Langerhan cells - Correct answer These are macrophage of the skin P a g e 37 | 54 272. Burkett's lymphoma - Correct answer This blood cell disorder involves a *starry sky* appearance, and involves young children in Central Africa. *Jaw swelling* occurs, 273. Hodgkin's disorder - Correct answer This blood cell disorder involves *Pel Epstein fever*. Biopsy reveals *Reed Sternberg cells, enlarged lymph nodes, and hepatosplenomegaly*. 274. Multiple myeloma - Correct answer This blood cell disorder is *leukemia of the bone marrow* affecting *plasma cells*. It is an example of *non-Hodgkin's lymphoma* and affects people 50+ yoa 275. Severe combined immune deficiency - Correct answer This blood cell disorder affects newborns without proper B or T cells. The problem is with the bone marrow. In adults, the most common cause is from aplastic anemia; possibly caused by benzene poisoning 276. Hemophilia A - Correct answer This hemophilia is a result of a *factor 8 deficiency* (Von Wilibrand Disease), leading to *decreased platelet adhesion*: 277. Decreased platelet adhesion - Correct answer What occurs in Hemophilia A (Von Wilibrand disease / factor 8)? P a g e 40 | 54 278. Hemophilia B - Correct answer This hemophilia is a result of *factor 9 deficiency* (Christmas Factor disease). it causes problems in the *X chromosome*, so the female is a carrier, and males have *Christmas disease* 279. Females are carriers 280. Males have Christmas disease - Correct answer What occurs in Hemophilia B (factor 9)? 281. Stuart factor - Correct answer Hemophilia C is caused by *factor 10*, which is known as this factor: 282. Hageman factor - Correct answer Hemophilia C can be caused by *factor 12*, which is known as this factor: 283. Mild symptoms - Correct answer What symptoms does Hemophilia C cause? 284. Aplastic anemia - Correct answer This anemia results in *decreased RBCs/WBCs* in the blood, and is caused by *benzene poisoning*. It is associated with *degeneration of bone marrow* P a g e 41 | 54 285. Iron deficiency - Correct answer This is the most common cause of decreased RBC production, causing *microcytic and hypochromic* cells 286. Pernicious anemia - Correct answer This anemia results from a *lack of intrinsic factor* 287. Folic acid - Correct answer Low amounts of this during pregnancy can cause *megaloblastic anemia* and *spina bifida occulta* 288. B-12 - Correct answer A low amount of this vitamin can lead to low production of RBCs. It is seen in vegetarians, and causes macrocytic hypochromic anemia 289. Iron deficiency 290. Pernicious anemia 291. Folic acid 292. B-12 deficiency - Correct answer These can cause nutritional anemias: 293. Chronic blood loss - Correct answer This causes a decrease in iron, leading to microcytic, hypochromic anemia P a g e 42 | 54 307. Atherosclerosis - Correct answer This condition involves the deposition of fatty plaque (atheroma) in the tunica intima. it is a form of arteriosclerosis, which randomly distributes lipid in the large and medium sized arteries, narrowing their lumen 308. Buerger's disease - Correct answer this is AKA thromboangitis obliterans, and involves the lower extremeties in males with a history of smoking. *Intermittent claudication* occurs, causing cramps with exertion 309. Cardiac tamponade - Correct answer This condition results from *fluid in the pericardial space*, preventing proper ventricular filling. Needs ER referral 310. Coarctation of the aorta - Correct answer This is narrowing of the aorta distal to the left subclavian, producing hypertension in the upper extremeties and hypotension in the lower extremeties 311. Monkeberg's sclerosis - Correct answer This results from *calcification of the tunica media* of *medium sized arteries* in *smokers and diabetics* 312. Myxoma - Correct answer This is the *most common benign cardiac tumor* and *most common cardiac tumor overall* P a g e 45 | 54 313. Prinzmetal's angina - Correct answer This results from *coronary artery spasm*: 314. Raynaud's - Correct answer This condition results from *vasospasm of the arteries* in the hands and feet, producing *triphasic color change* from white, blue to red. Brought on by *cold* or *emotion*.may lead to *dry gangrene*. Common in *females* with *Hx of smoking*: 315. Rhabdomyoma - Correct answer Tumor of striated muscle of the heart 316. Sickle cell anemia - Correct answer Anemia resulting in *half- moon shaped RBCs, "H" shaped vertebra, and results from *homozygous sickle cell allele* 317. Takayasu arteritis - Correct answer *pulseless disease* - results from *granulomatous inflammation* of the aortic arch 318. Temporal arteritis - Correct answer *Giant-cell arteritis* - affects temporal arteries, and is associated with *long-standing hypertension*. Can cause *blindness* if it affects the *opthalmic artery*. Increased ESR; biopsy is best for Dx P a g e 46 | 54 319. Tetrology of Fallot - Correct answer Pneumonic = DRIP: 320. Dextrorotation of the aorta 321. Right ventricular hypertrophy 322. Interventricular septal defect 323. Pulmonic stenosis 324. Name the condition: 325. Valvular lesions - Correct answer These may be due to *tooth extractions*, causing bacteremia with Strep causing *Aschoff bodies* from *rheumatic fever*. Affects *mitral valve* 326. Acute lymphoblastic leukemia - Correct answer This is the *most common leukemia seen in children* 327. Acute myeloblastic leukemia - Correct answer This leukemia can affect *any age*, and is the *most common leukemia in adults* and has the *worst prognosis*: 328. Chronic lymphocytic leukemia - Correct answer This leukemia is the *most common chronic leukemia in adults* P a g e 47 | 54 341. Cri du Chat - Correct answer CHS 5 aberration; "Cat's cry" by newborns. Disappears by age 1-2 342. Gaucher's lipodystrophy - Correct answer *Lipodystrophy* resulting in excess *glucocerebrosides* in the brain, liver and spleen 343. Krabbe's lipodystrophy - Correct answer *Lipodystrophy* resulting in *excess galactocerebrosides* in *white matter* 344. Niemann Pick's disease - Correct answer *Lipodystrophy* causing *increased sphingomyelin* due to a *sphingomyelinase deficiency*: 345. Tay Sach's disease - Correct answer *Lipodystrophy* due to *increased gangliosides* in the brain. *Hexominidase A deficiency*. *Cherry red spots on the macula*. Causes infant death; most common with *ashkenasi Jews* 346. Duchene's muscular dystrophy - Correct answer Muscular dystrophy most common in boys 3-7. *Pseudohypertrophy of calves*, where muscle is replaced by fat. *Recessive x linked*; *increased CPK (creative phosphokinase*. Gower's maneuver, waddling gait are seen. Proximal muscles are affected P a g e 50 | 54 347. Fascioscapulohumeral dystrophy - Correct answer autosomal dominant form of muscular dystrophy in adults. affects face, scapula, upper arms 348. Limb girdle dystrophy - Correct answer autosomal class of muscular dystrophy; effects hips and shoulders 349. Myotonic dystrophy - Correct answer Can't relax skeletal muscle 350. Fragile X - Correct answer Genetic disease that is the *most common form of mild mental retardation* caused by fragile site at *XQ27* 351. Kleinfelter's - Correct answer 47XXY *karyotype*; tall male, low IQ, testicular atrophy, gynecomasatia, sterility 352. Turner's - Correct answer 45X0 karyotype; females, short, webbed neck, amenorrhea; lack of secondary female characteristics 353. Aneurysmal bone cyst - Correct answer "ABC"; benign bone tumor affecting the *metaphyseal/diaphyseal region*. Eccentric. "Blister of bone". <20 yoa P a g e 51 | 54 354. Brown's tumor - Correct answer Tumor shaped radiolucency due to loss of bone density from *hyperparathyroidism* 355. Chondroblastoma - Correct answer Epiphyseal/metaphyseal benign bone tumor affecting <20 yoa 356. Chondroma - Correct answer Benign tumor of cartilage 357. Chordoma - Correct answer Cancer that is most commonly seen in sacrum. Crosses joints 358. DISH - Correct answer Bone pathology AKA "Diffuse Idiopathic Skeletal Hyperostosis", "Forrestier's disease". Most common in males 50+. *Trouble swallowing due to calcification of ALL*. Associated with *diabetes mellitus*. Increased hunger, thirst, urination 359. Enchondroma (Ollier's disease) - Correct answer Benign hand tumor. Stippled calcification. 2+ = multiple enchondroma. 360. Maffuci's sydnrome - Correct answer Enchondroma + soft tissue swelling + bone deformity P a g e 52 | 54