Genetic, Pulmonary

zomovefa's version from 2018-02-25 06:39


Question Answer
What is the typical incidence of rare things?1-3%
What is the typical incidence with 1 risk factor?10%
What is the typical incidence with 2 risk factors?50%
What is the typical incidence with 3 risk factors?90%
What does Autosomal Dominant usually indicate?Structural problem, 50% chance of passing it on
What does Autosomal Recessive usually indicate?Enzyme deficiency, 1/4 get it, 2/3 carry it
What are the X-linked Recessive deficiencies?Lesch-Nyhan went Hunting For Pirates and Gold Cookies -> LeschNyhan (HGPRT DEF) -> self mutilitation, gout, neuropathy, Hunters (iduronidase def), Fabrys (a-galatosidase Def) -> corneal clouding, attacks babys kidneys, CAT-1 deficiency, G6PD deficiency-> infxnx, hemolytic anemia, CGD-> nadph oxidase deficiency
Where did X-linked Recessive diseases come from?From maternal uncle or grandma
What are the X-linked dominant diseases?Vit D- resistant rickets(kidney leaks phosphorus) -> waddling gait / Pseudohypoparathyroidism->Sausage, digits, osteodystrophy
Where did X-linked Dominant diseases come from?Dad -> Daughter
Where are the mitochondrial diseases?Lebers-> atrophy of optic nerve / Leighs-> subacute necrotizing encephalomyelopathy
Where did Mitochondrial diseases come from?Mom-> all kids
Why do we stop CPR after 20-30 min?The brain has irreversible cell injury
Why do we only have 6hrs to use t-PA?The body has irreversible cell injury
What is Turner's?(X,O)-> web neck, cystic hygroma, shield chest, coarctation of aorta, rib notching
What is Klinefelters?(47xxy) -> tall, gynecomastiia, infertility, low testosterone Increase FSH & LH
What is XXX syndrome?(47,xxx), normal female w/two barr bodies
What is XYY syndrome?(47xyy) tall aggressive male
What is Trisomy 13?Patau's polydactly, high arch palate, pee problem, holoprosencephaly
What is Trisomy 18?Edwards, rocker bottom feet
What is Trisomy 21?Downs simian crease, wide 1st/2nd toes, macroglossia, Mongolian slant of eyes, beushfield spots, retardation
What disease has a Dinucleotide repeat?HNPCC
What diseases have Trinucleotide repeats?Huntingtons, Fragle X, Myotonic Dystrophy, Friedreichs Ataxia
What is Angelmans?Happy puppet sndrome -> ataxia
What is Prader-Willi?Hyperphagia, Hypogonadism, almond shaped eyes
What is Kallmans?Anosmia, small testes
What is Anaplasia?Regress to infantile state
What is Atrophy?Decreased organ or tissue size
What is Desmoplasia?Cell wraps itself w. dense fibrous tissue
What is Dysplasia "carcinoma in situ?"Lose contact inhibition(cells crawl on eachother) no basement membrane invasion
What is hyperplasia?Increased cell number
What is Hypertrophy?Increased cell size
What is Metaplasia?Change from one adult cell type to another
What is Neoplasm?New growth
What is benign?Well circumsized, freely movable maintains capsule, obeys physiology, hurts by compression, slow growing
What is Malignant?Not well circumscribed, fixed, no capsule, doesnt obey physiology, hurts by metastasis, rapidly growing(outgrows blood supply ->hunts for blood -> secretes angiogenin and endostatin to inhibit blood supply of other tumors
What are the fastest killing cancers?Pancreatic cancer, Esophageal cancer
What does adeno- tell you?Glandular
What does Leiomyo- tell you?Smooth muscle
What does Rhabdomyo- tell you?Skeletal muscle
What does Hemangio- tell you?Blood vessel
What does Lipo- tell you?Fat
What does Osteo- tell you?Bone
What does Fibro- tell you?Fibrous tissue
What does -oma tell you?Tumor
what does -carcinoma tell you?Cancer
What does -sarcoma tell you?Connective tissue cancer
What is a Hamartoma?Abnormal growth of normal tissue
What is a Choristoma?Normal tissue in the wrong place
What is the most common anterior mediastinum tumor?Thymoma
What is the most common MIDDLE mediastinum tumor?Pericardial
What is the most common POSTERIOR Mediastinum tumor?Neuro tumors
What organs have the most common occurence of metastasis?BBLLAP Brain(grey-white jxn) / Bone(bone marrow), Lung, Liver(portal vein, hepatic artery), Adrenal gland(renal arteries), Pericardium(coronary arteries)
What cancers have PSAMMoma bodies?Papillary thyroid, Serous ovary, Adenocarcinoma ovary, Meningioma, Mesothelioma
What cancer has CA-125?Ovarian
What cancer has CA-19?Pancreatic
What cancer has S100? Melanoma
What cancer has BRCA?Breast
What cancer has PSA?Prostate
What cancer has CEA?Colon, Pancreatic
What cancer has AFP?Liver, yolk sac
What cancer has Rb?Ewings saecoma, Retinoblastoma
What cancer has Ret?Medullary thyroid cancer
What cancer has Ras?Colon
What cancer has bcl-2?Follicular lymphoma
What cancer has c-myc?Burkitt lymphoma
What cancer has L-myc?Small cell lung carcinoma
What cancer has N-myc?Neuroblastoma-> psuedorosettes
What cancer has Bombesin?Neuroblastoma
What cancer has B-hcg?Choriocarcinoma
What cancer has 5-ht?Carcinoid Syndrome
What has t(9,22)?CML bcr-abl gene
What has t(14,18)?Follicular lymphoma bcl-2 gene
What has t(8,14)?Burkitts Lymphoma c-myc gene
What has t(15,17)?AML M3
What has t(11,22)?Ewings sarcoma


Question Answer
How is Major depression Dx?need 5 “SIGE CAPS” > 2wks, Sleep disturbances → wake in early am, Interest/Libido loss, Guilt, Energy loss, Concentration loss, Appetite loss, Psychomotor agitation, Suicide → hopelessness
What is Autism?Repetitive movements, lack of verbal skills and bonding, symptoms since birth
What is Asperger's?Good communication, impaired relationships, no mental retardation
What is Rett's?Only in Girls, decrease head growth, lose motor skills, hand-wringing, normal until 5yrs
What is Childhood Disintegrative Disorder?Develop normally for first 2 yrs, then behave autistic
What is Selective Mutism?Kid talks sometimes
What is Seperation Anxiety disorder?Kid screams when mom leaves
What is Conduct Disorder?Aggressive behavior in <18 y/o, disregards for rules, no sense of guilt, harm animals, illegal acitivity “bite”
What is ADHD?Overactivity, difficulty in school
What is Dysthymia?Low level of sadness >2yrs
What is Cyclothymia?Dysthymia with Hypomania
What is Double Depression?Depression followed by dysthymia
What is Bipolar I?Depression and Mania (Psychosis)
What is Bipolar II?Depression and Hypomania (No Psychosis)
What are loose associations?Ideas switch subjects, incoherent
What is Tangentiality?Wanders off the point
What is Circumstanciality?Digresses, but finally gets back to the point
What is Clanging?Words that sounds alike
What is Word salad?Unrelated combinations of words
What is Perseveration?Keeps repeating the same words
What is Neologisms?New words
What is Delusion?False belief
What is Illusion?Misinterprets stimulus
What is Hallucination?False sensory perception, EtOH withdrawal/Cocaine intoxication → Formication
What is Nihilism?Thinks the world has stopped
What is loss of ego boundaries?Not knowing where I end and you begin
What are ideas of reference?Believes the media is monitoring you
What is thought blocking?Stops mid-sentence
What is thought broadcasting?Believes everyone can read his thoughts
What is thought insertion?Believes others are putting thoughts into his head
What is thought withdrawal?Believes others are taking thoughts out of his head
What is Concrete thinking?Can't interpret abstract proverbs, just sees the facts
What is Synesthesia?Smell colors
What is Cataplexy?Loss of muscle memories, tone due to strong emotions
What is a Paranoid Personality Disorder?Suspicious about everything, use projection
What is Schizotypal personality disorder?“Magical thinking”, bizarre behavior
What is Schizoid Personality disorder?“Recluse”, don't want to fit in
What is Antisocial personality disorder?Lie, Steal, Cheat, Destroy property, impulsive w/o remorse, illegal activity
What is Conduct disorder personality disorder?“<15 y/o antisocial disorder”
What is Histrionic personality disorder?Theatrical, sexually provocative, use repression
What is Borderline personality disorder?“Perpetual teenager”, splitting (love/hate), projection, acting out, and self-mutilation
What is Narcissistic personality disorder?Pompous, No empathy
What is Dependent personality disorder?Clingy, submissive, low self-confidence, regression
What is OCPD?Perfectionist, doesn't show feelings, detail-oriented, uses isolation, doesn't acknowledge the problem with their behavior
What is Avoidant personality disorder?Socially withdrawn, afraid of rejection but wants to fit in
What is Kleptomania?Steals for the fun
What is Pyromania?starts fires everywhere
What is Intermittent explosive disorder?Loses self-control without adequate reason
What is Pathological Gambling?Can't stop gambling, affects others
What is Trichotillomania?pull out patches of hair
What is Lewy Body dementia?Stiff and Visual Hallucinations
What is normal pressure hydrocephalus?Tr/AD = Incontinence, Ataxia “ magnetic gait”, Dementia
What is Korsakoff Psychosis?Alcoholic thiamine deficiency (B1 deficiency)
What is Vascular “multi-infarct” dementia?Sudden onset, uneven progression of deficits, “stair-step” decline
What is Huntington's?In Caudate/Putamen, CAG repeats, and Choreiform movements
What is Creutzfeldt-jacob?Prion induced, die within 1 yr, post-cornea transplant
What is Pick's disease?Frontal lobe atrophy, disinhibition
What is Alzheimer's?“Decrease Ach in nucleus basalis of Meynert, bad ApoE, Amyloid plaques, tangles of tau
What is Parkinson's?In Substantia nigra, bradykinesia, pill-rolling tremor, shuffling gait, Lewy bodies
What is Somatization?Think they have a “different illness” all the time (at-least 4 organ systems)
What is Hypochondriasis?Think they have the “Same illness” all the time
What is Body dysmorphic disorder?Imagined physical defect
What is Pain disorder?Prolonged pain not explained by physical causes
What is Conversion?Neuro manifestation of internal conflict, indifferent to disability
What is Malingering?Fake illness for Monetary Gain, avoids medical treatment
What is Factitious?Fake illness to get attention, seeks medical treatment
What is Munchausen?Need to be the caregiver, Mom fakes Child's illness to get attention
What is Munchausen by proxy?Mom makes child ill for gain, move a lot
What is Amnesia?Can't recall important facts
What is Dissociative Fugue?No past, travel to new place, usually due to trauma
What is Multiple personality disorder?Have 5-10 alters usually associated w/ incest
What is Depersonalization disorder?“Out of body” experiences, Deja vu
What is sublimation?Substitute acceptable for unacceptable
What is Imitation?Dress like someone else
What is displacement?Take anger out on someone else
What is idealization?Wait for “ideal spouse” while they are beating you up
What is transference?Patient views doctor as parent
What is counter-transference?Doctor views patient as child
What is acting out?Expression of impulse, “tantrums”
What is regression?Immature behavior?
What is rationalization?Make excuses for all situations
What is intellectualization?Act like a “know it all” to avoid feeling emotions
What is isolation of affect?Isolate feeling to keep on functioning
What is suppression?Consciously block memory
What is repression?Subconsciously block memory
What is reaction formation?Unconsciously act opposite to how you feel (tears of a clown)
What is undoing?Doing exact opposite of what you used to do
What is compensation?Doing something different of what you used to do
What is Sadism?Gives pain
What is MasochismReceives pain
What is Exhibitionism?Exposure to others
What is voyeurism?Watching other people without their permission
What is telephone Scatalogia?Phone sex
What is frotteurism?Rub penis against fully clothed women
What is transvesite?Dress up as opposite sex, no identity crisis
What is transsexual?Gender identity crisis “man trapped in a womens body”
What is a fetish?Objects, vibrators dildos, shoes
What is a pedophile?Watching child pornography
What is a necrophile?Corpses
What is a beastophile?Animals
Can you die during EtOH withdrawal?Yes
Can you die during opiod withdrawal?No, just very painful