QB - DISEASES Flashcards

Question

Enterobius vermicularis

Answer 1

Scotch tape test Perianal itching (at night) Albendazole/Mebendazole Pyrantel pamoate (pregnant pts.)

Answer 2

Diethylcarbamazine

Answer 3

Ivermectin

Answer 4

Nifurtimox

Answer 5

Praziquantel

Answer 6

E. coli 0157:H7 Occurs in children UNDER 10 Shiga like toxin Contaminated ground BEEF Bloody diarrhea

Answer 7

S. aureus - custard/mayo/processed salted meats Preformed toxins - WATERY diarrhea (not bloody) - RAPID symptoms due to preformed toxins (resolves in 24hrs) Bacillus cereus - fried rice Vibrio parahaemolyticus - raw oysters - HIGH VOLUME, WATERY diarrhea (like cholera) Salmonella - raw egg/raw chicken Clostridium botulinum - improperly canned foods

Answer 8

Pulmonary infiltrates w/ HILAR LYMPHADENOPATHY Oval/round yeasts within macrophages (bone marrow slide) Sabouraud's agar = hyphae HEPATOSPLENOMEGALY = likes reticuloendothelial system Histoplasmosis - Mississippi & Ohio River Valley

Answer 9

Southwest US (Arizona) - San Joaquin Valley fever Spherules rupture --> release endospores Lung disease -> meningitis (HIV pts.)

Answer 10

Pigeon droppings MENINGITIS + pulmonary infections (HIV pts.) Budding yeasts w/ thick capsules Stains red on mucicarmine stain - use bronchopulmonary washings Opportunistic CSF findings w/ India ink - confirms diagnosis Peripheral clearings "halos" due to think polysaccharide capsules

Answer 11

Colonize old lung cavities (TB patients) Hemoptysis

Answer 12

Candida albicans A. fumigatus Mucor & Rhizopus

Answer 13

Gram + lives in soil Anaerobic environment Toxin = phospholipase that attacks cell membranes Myonecrosis - GAS GANGRENE Late-onset food poisoning: Transient watery diarrhea

Answer 14

Gonorrhea Rheumatic fever Strep pyogenes (group A)

Answer 15

M. tuberculosis Acanthamoeba Cryptococcus neoformans

Answer 16

Lobar consolidation on CXRay

Answer 17

Alcoholic coughing up "currant jelly sputum"

Answer 18

Needs L-cysteine-supplemented agar

Answer 19

Q fever Mild pneumonia symptoms Contaminated animal hides

Answer 20

Fungus in HIV+ patients Ground glass infiltrates on CXRay

Answer 21

Multinucleated giant cells Pinkish-purple intranuclear inclusions (Cowdry type A bodies) Treat w/ Acyclovir, Valacyclovir, Famciclovir

Answer 22

Gram - spirochete Chancre that heals without treatment within few weeks

Answer 23

Tender, red papule on external genitals - PAINFUL!

Answer 24

Lymphogranuloma venerum (LGV) PainLESS ulcers --> painful inguinal lymphdenopathy & ulceration (later progression)

Answer 25

Cervicofacial actinomycosis following dental procedure (oral trauma) Slow growing/firm feeling abscess in face/neck region Forms "sulfur granules" Penicillin + surgical debridement

Answer 26

Palmoplantar erythematous macules - petechial eruption Headache, fever, conjunctival hyperemia Doxycycline

Answer 27

Local edema + papule at inoculation site Painless necrotic wound + black eschar Ciprofloxacin

Answer 28

Oral flora of cats + dogs (humans get infected w/ cat bite)

Answer 29

MAJOR: polysaccharide capsule that INHIBITS phagocytosis by macrophages + PMN leukocytes "Quellung reaction" - antibodies to capsule causes capsules to swell --> destruction of capsules renders S. pneumonia NONvirulent Additional factors: pneumolysin - suppresses phagocyte's oxidative burst; adhesin Alpha-hemolytic (incomplete "green" hemolysis on blood agar)

Answer 30

Mucormycosis - diabetes mellitus + diabetic ketoacidosis Immunocompromised (opportunistic infection)

Answer 31

CHILDREN - 1 to 3 yrs Gigivostomatitis (swollen gums, ulcerative lesions) Lymphadenopathy Intranuclear inclusions Enveloped DS DNA virus Measles also infect this age group and lesions also have intranuclear inclusions but have BLUISH-GRAY KOPLIKE spots on buccal mucosa

Answer 32

B. fragilis E. coli ---- S. aureus - abscess on skin Actinomyces - abscess in cervicofacial region/abdominal cavity Candida albicans - perforation of proximal bowel (peptic ulcer) E. histolytica - amebic liver abscess

Answer 33

Lyme disease - Ixodes tick Red macules that are ring-shaped w/ CENTRAL clearing - ERYTHEMA CHRONICUM MIGRANS

Answer 34

Condyloma lata - generalized macular eruption

Answer 35

Weil's syndrome: hepatic dysfunction --> conjugated hyperbilirubinemia, renal dysfunction, thrombocytopenia, bleeding

Answer 36

Cat scratch fever Lymphadenopathy, malaise, fever

Answer 37

Penicillin binding protein (PBP) - MRSA Resistance including penicilinase-stable penicillins (oxacillin, nafcillin, methicillin) Mutation in RNA polymerase - Rifampin resistance Decrease in levels of drug accumulation (decreased uptake/increased efflux) = Tetracycline + Sulfonamides Mutation in DNA gyrase = quinolone resistance

Answer 38

Spore forming ANAEROBIC bacillus Botulinum toxin prevents presynaptic release of Acetylcholine (Ach) --> muscular relaxation Toxin used as therapy to treat focal dystonias, achalasia (lower esophageal sphincter), and muscle spasms

Answer 39

Neisseria meningitidis N. gonorrhoeae

Answer 40

IgG binding outer membrane protein (protein A) Protein A binds Fc portions of IgG --> prevents opsonization, phagocytosis, complement fixation

Answer 41

Intracellular polyphosphate granules

Answer 42

1. Nasopharyngitis (Rhinovirus, Influenza, Coronavirus) Congestion, discharge, sneezing, sore throat 2. Laryngotracheitis/Croup (Parainfluenza) Barking cough, stridor 3. Diphtheria (Corynebacteriu diphtheriae) Pseudomembrane 4. Epiglottitis (H. influenzae) Dysphagia, drooling 5. Bronchiolitis (RSV) Wheezing

Answer 43

German measles (Rubella) Eastern & Western equine encephalitis

Answer 44

Aplastic crises in sickle cell anemia Erythema infectiosum (5th disease) Huydrops fetalis

Answer 45

Viral gastroenteritis

Answer 46

Brassy, BARKING cough (CROUP) Viral laryngotracheitis Paramyxoviridae

Answer 47

Obligate intracellular HIV patients Encephalitis - multiplenecrotizing brain lesions Ring-enhancing lesions in both hemispheres Pyrimethamine & sulfadiazine

Answer 48

gag = nucleocapside proteins p24 and p7 pol = reverse transcriptase env = envelope and gp120 and gp41

Answer 49

EBV = mononucleosis Symptoms: fever, malaise, myalgia, atypical lymphocytosis, elevated liver transaminases, heterophil antibodies (causes RBC to agglutinate) CMV = similar symptoms to EBV except... Don't see heterophil antibodies CMV in immunocompromised: Severe retinitis, pneumonia, esophagitis, colitis, and/or hepatitis.

Answer 50

Erythema infectiosum (fifth disease) in children Bright red rash on cheeks 5-7 days after fever In adults: arthritis resembing rheumatoid arthritis -- but it resolves spontaneously

Answer 51

migratory pain/swelling in large joints fever, carditis, choreaform movements, erythema marginatum occurs a few weeks after STREP pharyngitis

Answer 52

Malaise, weight loss MALAR facial rash arthralgias in young women

Answer 53

Widened mediastinum (hemorrhagic mediastinitis) Wool-sorting business Gram + rods Antiphagocytic D-glutamate capsule Serpentine/medusa head on appearance

Answer 54

Corynebacterium diphtheriae

Answer 55

Proteus mirabilis

Answer 56

Bartonella henselae Focal lymphadenopathy Bacillary angiomatosis in immunocompromise pts. (red-purple papular skin lesions)

Answer 57

E. coli O157:H7 Microangiopathic hemolytic anemia Thrombocytopenia Renal insufficiency

Answer 58

HLA-B27 positive reactive arthritis Urethritis Conjunctivitis Chlamydia, Salmonella, Shigella, Yersinia, Campylobacter infections

Answer 59

Genital warts HPV 6 + 11

Answer 60

Pigmented dry skin Lack of DNA excision repair - can't repair DNA in skin following UV damage Erythema, scaling, hyperpigmnetation, lentigo (pigmented papules) Related: Fanconi anemia, Bloom syndrome (hypersensitivity to UV damage and chemo agents)

Answer 61

1. Mycobacterium tuberculosis 2. Histoplasmosis, Coccidiodomycosis 3. Treponema pallidum (syphilis) 4. M. leprae (leprosy) 5. Bartonella henselae (Cat scratch disease) 6. Sarcoidosis 7. Crohn's disease 8. Granulomatosis with polyangiitis (Wegener's) 9. Churg-Strauss syndrome 10. Berylliosis, silicosis

Answer 62

TH1 cells --> gamma-interferon secretion --> activates macrophages --> produces TNF-alpha --> granuloma formation Anti-TNF drugs cause sequestering granulomas to break down --> disseminated disease

Answer 63

Facial angiofibroma Seizures Mental retardation

Answer 64

Giant cell astrocytoma Renal angiomyolipoma Cardiac rhabdomyoma

Answer 65

Paraneoplastic syndrome Cushing's (ACTH), ADH (SIADH), Anti-Ca2+ channels (Lambert-Eaton)

Answer 66

Mental retardation Hypopigmentation (skin, eyes, basal ganglia -- substantia nigra, locus ceruleus, vagal nucleus dorsalis) "Mousy" or musty odor Phenylalanine cannot be converted to tyrosine; lack of phenylalanine hydroxylase or cofactor tetrahydrobiopterin (BH4)

Answer 67

Mental retardation Seizures Disease seen in PKU (fair skinned, blonde hair, blue eyes, musty odor pt.)

Answer 68

Facial muscle contraction elicited by tapping on facial nerve (anterior to ear) -- occurs when Ca2+ levels LOW (less than 7.0mg/dL) Primary hypoparathyroidism = loss of parathyroid tissue during thyroidectomy

Answer 69

PERSISTENTLY elevated estrogen, androgen, LH levels Hyperandrogenism, Anovulation, Oligomenorrhea, multple ovarian cysts Theca cell hyperplasia --> excess androgens (acne, hirsutism, male pattern balding, virilization) Obesity, insulin resistance, dyslipidemia --> increase risk of diabetes and cardiovascular disease Excess estrogen - thickened endometrium - increase risk of developing endometrial hyperplasia & carcinoma Treatment w/ weight loss & oral contraceptives

Answer 70

Primary defect in adrenal coritosl -- NO feedback inhibition of anterior pituitary pro-opiomelanocortin (POMC) POMC continues to make ACTH and MSH (melanocyte stimulating hormone) --> hyperpigmentation

Answer 71

Lack of TSH and prolactin

Answer 72

C. perfringens destroys lecithin (cell phospholipid membrane) destruction of cells --> necrosis/hemolysis, cell death

Answer 73

HUMAN PLACENTAL LACTOGEN Similar to GH and prolactin - causes INCREASE in insulin resistance to increase serum glucose; increase serum glucose shunted to developing fetus for increasing energy requirements

Answer 74

Radial nerve + deep brachial artery damage Loss of extensors in forearm and at wrist

Answer 75

Axillary nerve + Anterior circumflex humeral a.

Answer 76

Brachial artery

Answer 77

Primary - hyponatremia, hyperkalemia, hypochloremia, metabolic acidosis Secondary/Tertiary - do NOT have hyperkalemia or metabolic acidosis; WILL respond with serum cortisol production when exogenous ACTH is administered

Answer 78

Diuretic use (contraction alkalosis -- increased bicarb absorption)

Answer 79

Superior gluteal n. = weakness in gluteus medius and minimus; walk w/ waddling gait/characteristic limp

Answer 80

Inferior gluteal nerve (gluteus maximus) Lambert-Eaton myasthenic syndrome and myasthenia gravis also have proximal muscle weakness

Answer 81

Obturator nerve

Answer 82

Femoral n.

Answer 83

Sciatic n.

Answer 84

MOST COMMON congenital adrenal hyperplasia Can't make aldosterone or cortisol (get buildup of 11-deoxycorticosterone and 11-deoxycortisol) ACTH is elevated bc there's not feedback inhibition from cortisol (cortisol isn't being made) Test for 17-OH progesterone (buildup of precursor products) Accumulating aldosterone and cortisol precursors shunted to androgen pathway --> females have AMBIGUOUS genitalia (VIRILIZATION) Males have normal genitalia - have symptoms later w/ SALT-WASTING or precocious puberty

Answer 85

Conversion of cholesterol to pregnenolone (absence of this enzyme results in complete absense of steroid hormones) = INCOMPATIBLE w/ life

Answer 86

Can't make androgens - everything diverted to make mineralcorticoids (aldosterone) Salt retention --> HTN ALL phenotypically "FEMALE" due to impaired androgen synthesis

Answer 87

Androgen insensitivity syndrome

Answer 88

Increase osteoclastic bone resorption Increase DISTAL tubular absorption of calcium Increase formation of 1,25-dihydroxy vitamin D (via upregulation of 1-alpha hydroxylase) 1,25-dihydroxy vitamin D increases GI absorption of Ca2+ SECONDARY hyperparathyroidism: Patients w/ RENAL FAILURE -- DECREASED formation of 1,25-dihydroxy vitamin D --> decreased absorption of Ca2+ RENAL FAILURE - elevated phosphorous (can't be excreted) --> increase PTH hormone "secondary hyperparathyroidism" bc PTH is antagonistic to phosphorous (will cause elimination of phosphorous)

Answer 89

Humoral hypercalcemia of malignancy Vitamin D toxicity Excessive ingestion of Ca2+ Thyrotoxicosis Immobilization (Ca2+ is resorbed from inactive bones)

Answer 90

"Shock-like state" Hypotensive, tachycardic, hypoglycemic Adrenal insufficency (vomiting, abdominal pain, weight loss, hyperpigmentation due to MSH overstimulation) Patients w/ adrenal insufficiency - can't make glucocorticoids essential for cardiovascular + metabolic adaptations during stressful situations

Answer 91

Lack of spermatogenesis and inhibin B production LH release testosterone from Leydig cells (testosterone feeds back to inhibit LH) FSH releases inhibin B from Sertoli cells (inhibin feeds back to inhibit FSH) FSH does NOT make testosterone but is responsible for ANDROGEN-BINDING protein which binds testosterone and elevates local testosterone that is necessary for spermatogenesis

Answer 92

1/2 patients have associated malignancy: SMALL CELL lung cancer Similar symptoms to myasthenia gravis: diplopia, ptosis, dysarthria, dysphagia Differences: LEMS - hyporeflexia/areflexia, autonomic symtpoms, classic incremental response to repetitive stimulation

Answer 93

Thymoma & thymic hyperplasia (appears as ANTERIOR mediastinal mass) Autoimmune condition - weakness of facial, periocular, bulbar, and pelvic girdle muscles Ascending muscle weakness (demyelination) - T lymphocyte and macrophage infiltration Campylobacter infection

Answer 94

Idiopathic inflammatory myopathy Bilateral proximal weakness Elevated creatine kinase (CK)

Answer 95

Sudden onset stiffness, pain, tenderness of musculature (shoulders, hips, neck, torso) Elevated ESR

Answer 96

UMN involvement (hyperreflexia, spasticity) coupled w/ LMN involvement (atrophy, fasiculations)

Answer 97

Autoimmune: 20-30yr old females Increased IgG in CSF Demyelinating lesions in brain/spinal cord Optic neuritis: sudden loss of vision w/ painful eye movements Cerebellar damage: intention tremor

Answer 98

Acute postinfectious polyneuropathy Nonspecific prodromal malaise/nausea FOLLOWED by progressive ascending paralysis

Answer 99

Pituitary tumor - PROLACTINOMA Prolactin inhibits entire GnRH-LH/FSH axis Impotence in men/Amenorrhea in women (hypogonadtropic amenorrhea) Men = decreased GnRH, decreased FSH, decreased LH, decreased testosterone Dopamine inhibits prolactin via D2 dopamine receptor on lactotrophs (damage to hypothalamus --> hyperprolactinemia)

Answer 100

Postpartum hemorrhage (hypotension) --> ischemic necrosis to pituitary (that enlarged and became more vascular during pregnancy) Panhypopituitarism: Woman can't lactate - prolactin deficiency Hypothyroidism = excessive weight loss and malaise Hypocortisolism

Answer 101

Acute presentation: headaches, visual field deficits Also low cortisol Occurs late pregnancy or early postpartum

Answer 102

Hemorrhage in preexisting pituitary adenoma - emergency!! Acute, severe headache, ophthalmoplegia, altered sensorium

Answer 103

SLE, Rheumatoid arthritis, connective tissue

Answer 104

IgE mediated IgE produced by B lymphocytes + plasma cells Specific for allergens (IgE) -- crosslinking of IgE molecules on surface of basophils and mast cells --> degranulation of HISTAMINE

Answer 105

Hyponatremia + lung mass (small cell carcinoma of lung**) SIADH --> excessive water reabsorption --> HYPERVOLEMIA renin/angiotensin stimulates natriuretic peptides --> excrete Na+ in urine (hyponatremia) Patients have normal body fluid volume but LOW plasma osmolality (euvolemic hyponatremia) Low plasma sodium & osmolality, inappropriately concentrated urine (even though there's no Na+ around to cause concentration of urine), increased urinary sodium, and normal body fluid volume

Answer 106

Estrogen increases amount of TBG (thyroid binding globulin) --> increase level of total T4 and T3 Free thyroid hormones = stay SAME so patients are euthyroid w/ normal TSH Increases in circulating T4 seen in pregnancy, oral contraceptives, hormone replacement therapy

Answer 107

Hyperparakeratosis, acanthosis, rete ridge elongation Mitotic activity above basal cell layer Reduced/absent stratum granulosum

Answer 108

Pruritic vesicles/plaques on extensor surfaces Gluten enteropathy

Answer 109

Painful, reddish nodules on shins Oral contraceptives, Strep pharyngitis, IBS, Sarcoidosis

Answer 110

Medial femoral circumflex artery damage --> avascular necrosis of femoral head

Answer 111

Vitamin C deficiency (scurvy) = decreased connective tissue strength Vitamin C needed to hydroxylate proline + lysine via prolyl and lysyl hydroxylases

Answer 112

Chlamydia/gonorrhea PID --> ectopic pregnancy Increase changes of ectopic pregnancy due to previous abortions, exposure to DES

Answer 113

Antibiotic use recently Diabetes

Answer 114

Strep infection causing scarlet fever PYROGENIC toxin --- Endotoxin: Gram - sepsis M protein: Rheumatic fever* Alpha toxin: C. perfrigens

Answer 115

Causes fistula w/ bladder

Answer 116

Molluscum contagiosum Pox virus

Answer 117

Pseudomonas - "blue green" - wet Associated w/ water (hot tubs, burns)

Answer 118

Lateral --> 3rd ventricle via FORAMINA OF MONRO 3rd --> 4th ventricle via CEREBRAL AQUEDUCT (of Sylvius) 4th ventricle --> subarachnoid space via FORMINA of LUSCHKA (lateral)/MAGENDIE (medial) CSF return to venous circulation via ARACHNOID VILLI (granulations)

Answer 119

Communicating - blockage in subarachnoid space (fibrosis); no blockage in brainstem Normal pressure - CSF NOT absorbed Hydrocephalus ex vacuo - increase CSF VOLUME Pseudotumor cerebri: overweight young females - decreased CSF outflow at arachnoid villi

Answer 120

Turner syndrome, bicuspid aortic valves BP elevated proximal to coarctation, BP decrease distal to coarctation

Answer 121

Down syndrome Bilious vomiting without abdominal distention - 1st day of life! (duodenal lumen fails to recanalize) Polyhydramnios

Answer 122

Potter syndrome Oligohydramnios/facial dysmorphism Pulmonary hypoplasia

Answer 123

ATRIALIZED right ventricle (downward displacement of tricuspid valve) maternal exposure to LITHIUM*

Answer 124

a-fetoprotein (AFP) + acetylcholinesterase levels ELEVATED ANTERIOR neuropore: - encephalocele (herniation of brain tissue through cranial defect) - anencephaly (absence of brain/calvarium) POSTERIOR neuropore (more common): - spina bifida occulta - meningocele - meningomyelocele

Answer 125

Vertical diplopia (walking downstairs): CN IV (trochlear) Horizontal diplopia: CN VI (abducens) -- also have esotropia (inward deviation of eye)

Answer 126

Internuclear ophthalmoplegia Impaired horizontal eye movement; weak ADDUCTION of affected eye w/ simultaneous nystagmus of CONTRA eye (trying to compensate)

Answer 127

Neuromuscular junction pathology - MYASTHENIA GRAVIS Rapid diaphragmatic muscle fatigue - restrictive lung/chest wall disease

Answer 128

Acute demyelinating disease (following infection, immunization, allergic reaction) Antibodies to some infectious agent that contain gaglioside-like substance cross-react w/ ganglioside components of MYELIN --> SEGMENTAL DEMYELINATION & ENDONEURAL INFLAMMATORY INFILTRATE Ascending muscle weakness (following respiratory or GI infection) Campylobacter jejuni Absence of deep tendon reflexes (DTRs) Paralysis of respiratory muscles - fatal! CNVII - Bell's palsy (if cranial nerves affected)

Answer 129

LMN "floppy child" syndrome

Answer 130

Resembles myasthenia gravis Associated w/ small cell lung carcinoma Autoantibodies w/ presynaptic Ca2+ channels -- no release of Ach

Answer 131

Both weakness of proximal muscles MG: Ptosis, Diplopia Thymoma risk Antibodies against ACh receptors Nerve stimulation studies - DECREASE response Weakness of muscles WORSE w/ exertion L-E: Pre-existing malignancy Antibodies against pre-synaptic Ca2+ channels Nerve stimulation studies - INCREASE response Weakness of muscles BETTER w/ exertion and exercise (better at the end of the day)

Answer 132

Vitamin B12 deficiency DORSAL COLUMNS + LATERAL CEREBROSPINAL tracts affected loss of position/vibration sensation, spastic paresis, ataxia

Answer 133

CNS lymphoma (diffuse large B-cell lymphoma) - CD20 + CD79a EBV related - poor diagnosis

Answer 134

Adjacent to brain surface + attached to dura mater

Answer 135

Suprasellar region - can be CALCIFIED Endocrinopathies (hypopituitarism)

Answer 136

Cerebellopontine angle CN VIII compression symptoms (hearing loss, tinnitus, loss of balance)

Answer 137

mild, severe mental retardation (second most common cause of mental retardation; #1 is Down Syndrome) long thin face, prominent forehead + jaw macroorchidism (large testes!) FMR-1 gene (familial mental retardation gene-1) CGG trinucleotide repeat hypermethylation of CYTOSINE bases -- gene inactivated

Answer 138

Lynch syndrome increased risk of hereditary non-polyposis colorectal cancer (HNPCC)

Answer 139

1. Xeroderma pigmentosum 2. Ataxia-telangiectasia 3. Fanconi's anemia 4. Bloom syndrome

Answer 140

Waterhouse-Friderichsen syndrome bilateral adrenal hemorrhage --> adrenal insufficiency --> hypotension --> death DIC, shock N. meningitidis pharynx --> blood --> choroid plexus --> meninges

Answer 141

1. H. influenzae: pharynx --> lymphatics --> meninges (infants/children) 2. S. pneumoniae: middle ear --> contiguous tissues --> meninges 3. S. aureus: skull trauma --> leaking CSF --> meninges (get abscess) 4. M. tuberculosis: lung focus --> blood --> meninges

Answer 142

Restlessness, agitation, dysphagia --> progressing coma --> death Vaccine: KILLED rhabdovirus strains Rabies virus = -ssRNA

Answer 143

Lack of phenylalanine hydroxylase Inability to convert phenylalanine to tyrosine TYROSINE becomes an essential aa excess phenylalanine inhibits tyrosinase (synthesis of melanin from tyrosine) --> fair skinned people

Answer 144

1. d-Aminolevulinate dehydratase 2. Ferrochelatase d-ALA (d-aminonlevulinic acid) and protophorphyrin IX accumulates heme production decreaed -- microcytic anemia secondary to lack of Hgb --- d-Aminolevulinate synthase (rate limiting reaction in HEME BIOSYNTHESIS)

Answer 145

Acute intermittent porphyria Abdominal pain + neuropsychiatric symptoms

Answer 146

Most common porphyria: Porphyria cutanea tarda (PCT) Uroporphyrinogen accumulates in urine; mild photosensitivity

Answer 147

Conjugation of bilirubin

Answer 148

deficiency of sphingomyelinase --> sphingomyelin accumulates in phagocytes --> "foamy histiocytes" loss of previously acquired motor capabilities cherry-red macular spot (similar to Tay Sachs) hepatosplenomegaly

Answer 149

deficiency in hexosaminidase A --> GM2 ganglioside accumulation

Answer 150

deficient in alpha-L-iduronidase accumulation of heparan sulfate + dermatan sulfate

Answer 151

deficient in glucocerebrosidase accumulation of glucocerebroside in phagocytes

Answer 152

deficiency in glucose-6-phosphatase

Answer 153

deficiency in lysosomal alpha-1,4-glucosidase

Answer 154

deficiency in alpha-galactosidase A --> accumulation of ceramide trihexoside Progression to RENAL failure Angiokeratomas Hypohidrosis Acroparesthesia (burning neuropathic pain in extremities)

Answer 155

deficiency of hypoxanthine guanine phosphoribosyl transferase (HGPRT) disorder in uric acid metabolism Spasticity Choreoathetoid movements (involuntary movement spasms + writhing movements) SELF MUTILATION

Answer 156

located in adrenal medulla non-rhythmic conjugate eye movements w/ myoclonus increased N-myc gene copies retroperitoneal mass

Answer 157

1. Ventromedial - satiety (leptin stimulated) 2. Ventrolateral - hunger 3. Anterior - cooling 4. Posterior - heating 5. Arcuate - dopamine secretion (inhibits prolactin); GHRH and gonadotropin release 6. Paraventricular - ADH and oxytocin releasing, CRH, TRH 7. Supraoptic - secretion of ADH and oxytocin 8. Suprachiasmatic - circadian rhythm, pineal gland function

Answer 158

internal rotation, depression, abduction lesion -- vertical & torsional diplopia, eye deviates upwards

Answer 159

abduction lesion -- horizontal diplopia, eye deviates medially

Answer 160

Increased head circumference, enlarged ventricles Muscle hyperreflexia and hypertonicity due to UMN damage due to stretching of periventricular pyramidal tracts

Answer 161

X-linked inability of phagocytes to synthesize NADPH oxidase - can't have lysosomal oxidative burst pts. suffer recurrent infections from catalase-positive organisms: staphylococci

Answer 162

Decreased acetylcholine level (lack of choline acetyltransferase) areas affected: basal nucleus of Meynert - memory/cognition Hippocampus - formation of new memories

Answer 163

Panic attacks, panic disorders Caudal pontine central gray matter - contain NE

Answer 164

Huntington's NMDA receptors depleted in striatum

Answer 165

Serotonergic Anorexia, depression, sleep disorders

Answer 166

due to cardiac arrest --> cessation of blood flow --> severe hypoperfusion Ischemia >5mins causes irreversible damage to neurons Watershed areas of anterior, middle, and posterior cerebral aa. Bilateral wedge-shaped bands of necrosis over cerebral convexities, lateral to interhemispheric fissure

Answer 167

"red neuron" 12-24 hours after injurious event shrinkage of cell body eosinophilia of cytoplasm pyknosis of nucleus loss of Nissl substance

Answer 168

Cyst in spinal cord - lateral spinothalamic tract (bilateral loss of P&T) - motor neurons of anterior horns: LMN (flaccid paralysis, atrophy of intrinsic muscles)

Answer 169

Lateral corticospinal tract: UMN lesion Anterior horn: LMN ALS (amylotrophic lateral sclerosis) has BOTH!

Answer 170

Compression/occlusion of artery COMPLETE loss of strength below level of injury Loss of pain & temperature STILL has vibratory senses

Answer 171

Neural tube defects

Answer 172

Decreased AFP Excessive skin at posterior neck VSD and duodenal atresia endocardial cushion defect TE fistula Slanted palpebral fissues, Single transverse palmar crease Flat facies

Answer 173

Edwards - 18- prominent occiput, microagnathia (small jaw), low set ears, small mouth, overlapping fingers-clenched hands, severe mental retardation (usually die by 1yr) Patau - 13 - ENTIRE HEAD affected (microcephaly - small head!), polydactyly, umbilical hernia, holoprosencephaly (forebrain doesn't divide into 2 hemispheres), cleft lip -- occurs secondary to nondisjunction during meiosis I

Answer 174

Coronavirus, rhinovirus, adenovirus

Answer 175

Fibroblast growth factor receptor 3 (FGF-3) Autosomal dominant Spontaneous mutations w/ advanced paternal age Shortened limbs, normal face and normal torso 1/3 chance normal baby from 2 affected parents (2/3 chance baby has symptoms)

Answer 176

Enteroviruses - coxsackievirus, echovirus, poliovirus, enterovirus

Answer 177

S. pneumoniae, N. meningitidis Alterations in mental status/seizures Neutrophilic pleocytosis, LOW glucose, HIGH protein

Answer 178

Wernicke's encephalopathy can occur bc THIAMINE is coenzyme for PYRUVATE DEHYDROGENASE in glucose metabolism Pt. given glucose with no thiamine --> glucose not metabolized --> necrosis of brain = MAMILLARY BODIES (emotion and memory via Papez circuit)

Answer 179

Vascular lesion --> damage to thalamic VPL and VPM nucleus --> CONTRA sensory loss (lower and upper extremities, face) Proprioceptive defects --> unsteady gait + falls

Answer 180

Transient hemiparesis (weakness on one side of body) Frontal lobe symptoms (inattentiveness, forgetfulness)

Answer 181

Posterior limb separates globus pallidus and putamen from thalamus Carries corticospinal MOTOR and somatic SENSORY fibers + visual and auditory fibers

Answer 182

Coma Bilateral paralysis

Answer 183

CAG trinucleotide repeats Anticipation (offspring develop diseases earlier) Autosomal dominant Atrophy of caudate nucleus

Answer 184

Tumor of pineal gland GERMINOMAS most common tumor of pineal gland Children/adolescents - mostly MALEs 1. precocious puberty (B-hCG production) 2. Obstructive hydrocephalus (due to tumor compressing aqueduct) 3. Parinaud syndrome: PARALYSIS of upward gaze and convergence

Answer 185

"locked in" syndrome = spastic quadriplegia and paralysis of most cranial nerves

Answer 186

1. Lateral medullary syndrome: Wallenberg: - CONTRA loss of pain & temp - IPSI paralysis of CNV, IX, X, XI 2. Medial medullary syndrome: - CONTRA spastic paralysis - IPSI flaccid paralysis of tongue (CN XII)

Answer 187

Inhibits cholinesterase in both muscarinic and nicotinic receptors EXCESSIVE CHOLINERGIC STIMULATION! "DUMBELS" - muscarinic effects diarrhea, diaphoresis urination miosis bronchospasm emesis lacrimation salivation nicotinic effect - muscle fasciulations --> muscle PARALYSIS ATROPINE reverse muscarinic symptoms - pts. still at risk of muscle paralysis Pralidoxime - reverses BOTH muscarinic and nicotinic receptors

Answer 188

capillary hemangioblastomas in retina/cerebellum congenital cysts in kidney, liver, pancreas increased risk of renal cell carcinoma

Answer 189

PERIPHERAL nervous system neurofibromas optic nerve gliomas Lisch nodules (pigmented nodules of iris) caf_ au lait spots (hyperpigmented cutaneous macules)

Answer 190

bilateral cranial nerve VIII schwannomas multiple meningiomas

Answer 191

cutaneous facial angiomas, leptomeningeal angiomas neurocutaneous disease ophthalmic (V1) and maxillary (V2) distributions of trigeminal nerve "tram track" calcifications on skull**

Answer 192

Kidney, liver, pancreatic cysts cortical and subependymal hamartomas cutaneous angiofibromas (adenoma sebaceum) renal angiomyolipomas & cariac rhabdomyomas

Answer 193

hereditary hemorrhagic telangiectasia rupture of telangiectasias - epistaxis, GI bleeding, hematuria

Answer 194

Leucine Isoleucine Valine Accumulation of leucine = neurotoxic

Answer 195

Lack branched chain a-ketoacid dehydrogenase: requires several cofactors: "Tender Loving Care For Noone!" Thiamine pyrophosphate Lipoate Coenzyme A FAD NAD Some patients improve on high dose THIAMINE therapy pyruvate dehydrogenase and a-ketoglutarate dehydrogenase also require same 5 cofactors

Answer 196

lack of galactocerebrosidase (no galactocerebroside for myelin) muscle tone abnormality in infants, developmental delay/regression

Answer 197

Treats sideroblastic anemia & hyperhomocysteinemia

Answer 198

intractable diarrhea metabolic ACIDOSIS HYPOkalemia HYPOtensive (dehydration and vasodilatory effects of VIP)

Answer 199

Spinothalamic tract (pain + temperature) Medial lemniscus (position + proprioception) Transmit to primary somatosensory cortex

Answer 200

Trigeminal + gustatory Transmit to primary sensory cortex

Answer 201

Vision Optic radiations Visual cortex (calcarine sulcus)

Answer 202

Auditory Superior olivary nucleus, inferior colliculus (pons) Temporal lobe

Answer 203

a. dominant Cortical tubers Subependymal hamartomas (brain) --> seziures/retardation - bilateral renal angiomyolipoma (blood vessels, smooth muscle, fat) - Cardiac rhabdomyomas - Facial angiofibromas - Leaf-shaped patches (ash leaf patches)

Answer 204

NF1: a. dominant optic gliomas Lisch nodules (pigmented nodules of IRIS) caf_-au-lait spots NF2: a. dominant bilateral acoustic neuromas meningiomas, gliomas, ependymomas of spinal cord

Answer 205

cerebellar hemangioblastomas retinal hemangiomas liver cysts risk of RENAL CELL carcinoma

Answer 206

Facial port-wine stain Leptomengineal capillary-venous malformation

Answer 207

Hereditary hemorrhagic telangiectasia - telangictasias of skin + mucosa recurrent epistaxis GI bleeding (melena)

Answer 208

Basement membrane splitting Similar to Alport syndrome: deafness, ocular manifestations

Answer 209

IgM* and C3 deposits

Answer 210

Anti-GBM antibodies react to alpha3-chain of collagen IV Pulmonary hemorrhages --> hemoptysis (due to damage of alveoli BM) RPGN IgG and C3 Crescent formation RBC casts

Answer 211

RBC casts, oliguria hypercellular glomeruli - "starry sky" "humps and bumps" anti-streptolysin O low C3 periorbital edema, HTN

Answer 212

Anti-neutrophil cytoplasmic antibodies (c-ANCA) "necrotizing granulomatous vasculitis" granulomatosis + polyangiitis triad: 1) pulmonary symptoms (cough/hemoptysis -- focal necrotizing granulomas in lungs) 2) upper respiratory tract (chronic sinusitis, mucosal ulceration of nasopharynx) 3) renal disease -- RPGN (crescentic)

Answer 213

Nodular glomerulosclerosis Diabetic nephropathy - ESRD Glomerular hyperfiltration --> increase mesangial matrix/thickening of GBM K-W nodules diffuse glomerulosclerosis hyaline arteriosclerosis use ACE inhibitors, ARBs - prevent progression of diabetic nephropathy

Answer 214

Platelet dysfunction

Answer 215

WBC count increase (leukocytosis >50,000) left shift - immature forms of cells - bands, metamyelocytes, myelocytes, VERY LITTLE -blast cells differentiate btwn CML and leukemoid reaction: alkaline phosphatase ELEVATED = leukemoid alk phosp decrease = CML

Answer 216

Septicemia (Strep pneumoniae or H. influenza) due to asplenia (more prone to encapsulated organisms) Osteomyelitis (Salmonella; also S. aureus & E. coli)

Answer 217

Rickettsia Legionella Chlamydia

Answer 218

1.Giemsa - Chlamydia, Borrelia, Rickettsiae, Trypanosomes, Plasmodium 2. PAS - Whipple's disease 3. Ziehl-Neelsen - Acid fast organisms (Mycobacterium) 4. Indian ink - Cryptococcus neoformans 5. Silver stain - Fungi (Pneumocystis), Legionella, H. pylori

Answer 219

1. Clostridium 2. Bacteroides 3. Actinomyces Aminoglycosides have no effect on anaerobes.

Answer 220

"SHiNE SKiS" Strep pneumo H. influenzae type b Neisseria E. coli Salmonella Klebsiella group B Strep Asplenic patients should be vaccinated! Strep pneumo, H. influenzae, Neisseria.

Answer 221

"CAtaLaSES!" Listeria Aspergillus Candida E. coli S. aureus Serratia

Answer 222

Chocolate agar Factor V (NAD+) and Factor X (hematin)

Answer 223

VPN media Vancomycin (Gram +) Polymixin (Gram -) Nystatin (fungi)

Answer 224

Pink colonies on MacConkey's agar E. coli also on EMB agar (green metallic sheen)

Answer 225

Charcoal yeast extract agar

Answer 226

1. Actinomyces - yelllow "sulfur" granules 2. S. aureus - yellow 3. Pseudomonas - blue-green 4. Serratia - red

Answer 227

Binds Fc region of Ig Prevents opsonization & phagocytosis S. aureus

Answer 228

Cleaves IgA in order for organism to colonize respiratory mucosa "SHiN" S. pneumoniae H. influenza Neisseria

Answer 229

Prevents phagocytosis group A Strep Rheumatic fever

Answer 230

Regulates behavior Schizophrenia

Answer 231

Coordination of voluntary movements Parkinsonism

Answer 232

Controls prolactin secretion Hyperprolactinemia

Answer 233

Na+ retention HTN Hypokalemia Metabolic alkalosis

Answer 234

High aldosterone causes increased renal Na+ and H2O absorption --> increase renal blood flow and GFR --> increase rate of sodium excretion from renal tubules

Answer 235

Develops during chemo for cancers w/ rapid cell turnover (poorly differentiated lymphomas and leukemias) Hyperphosphatemia, Hyperkalemia, Hyperuricemia, HYPOcalcemia

Answer 236

African American bilateral hilar adenopathy non-caseating granulomas

Answer 237

Squamous cell: keratin-containing malignant cells; SMOKER Adenocarcinoma: glandular differentiation w/ atypia; NON-SMOKER

Answer 238

Nodular sclerosis subtype Nodular growth pattern, surrounding fibrous bands, lacunar variant REED-STERNBERG cells

Answer 239

RIGHT sided endocardial fibrosis --> pulmonic stenosis/restrictive cardiomyopathy Skin flushing, abdominal cramping, naseau/vomiting/diarrhea -- due to serotonin, kallikrein, bradykinin, histamine, prostaglandins, and/or tachykinins Test serotonin levels in plasma Urinary levels of 5-hydroxyindoleacetic acid (serotonin metabolite)

Answer 240

EPI and NE metabolite

Answer 241

Arterial and venous thrombosis Development of atherosclerosis

Answer 242

phenylalanine hydroxylase deficiency --> CNS damage/mental retardation PKU

Answer 243

E. coli Klebsiella Proteus Enterococci **all are Gram - rods Due to vesicoureteral junction issue - urine backflow!

Answer 244

1st order neurons = premotor & motor cortex (frontal lobe - Brodmann's areas 4 & 6) Neurons travel through internal capsule --> midbrain --> pons --> PYRAMIDS (medulla) Fibers decussate @ medulla --> LATERAL CORTICOSPINAL TRACT (fibers that don't decussate descend --> ANTERIOR corticospinal tract) 2nd order neurons = anterior horn (fibers synapse) UMN = lesions above anterior horn LMN = lesions below anterior horn

Answer 245

muscle weakness increased tone (spasticity) clasp-knife rigidity positive Babinski hyperreflexia, clonus

Answer 246

flaccid paralysis areflexia atrophy fasiculations Poliomyelitis, Werdnig-Hoffman

Answer 247

Squatting --> increase systemic vascular resistance Increase pressure in systemic circulation allows less RIGHT --> LEFT shunting to occur --> more blood in pulmonary circulation to get oxygenated

Answer 248

Coarctation of aorta (due to HTN in branches) leads to: 1) subarachnoid hemorrhage 2) ruptured dissecting aortic aneurysm 3) LV failure Seen in young adults that die suddenly due to brain hemorrhage

Answer 249

upper extremity LMN lesion + loss of P&T lower extremity UMN lesion kyphoscoliosis

Answer 250

Small cell lung carcinoma facial & upper extremity edema dilated veins of upper torso

Answer 251

upper GI bleed (loss of gastric cytoprotection) impaired platelet aggregation

Answer 252

Inflammatory myopathy + cutaneous involvement Proximal muscle weakness (difficulty climbing stairs, rising from sitting position, combing hair) + Gottron papules (flat-topped papules over bony prominences) + heliotrope rash anti-Jo1 antibodies (specific) ANA (nonspecific) elevated CK levels

Answer 253

Age related (can progress to blindness) Deposition of fatty tissue (drusen) behind retina (dry MD) Neovascularization of retina (wet MD)

Answer 254

PaO2 is the only respiratory drive stimulator Too much supplemental oxygen too rapidly --> respiration is inhibited (body thinks there's already too much O2) Patients don't respond to PaCO2 anymore (b/c there's constant excess of CO2)

Answer 255

Hyperestrinism due to: decreased catabolism of estrogen + increased sex hormone-binding globulin (binds testosterone, decrease free testosterone:estrogen ratio) imbalance --> gynecomastia, testicular atrophy decreased body hair spider angiomata (dilation of superficial capillaries)

Answer 256

CREST syndrome Calcinosis - subcutaneous Ca2+ deposits Raynaud's Esophageal dysmotility - fibrosis of distal esophagus Sclerodactyly - thickening of skin of hands/feet Telangiectasias

Answer 257

Diffuse scleroderma Progressive systemic sclerosis --> chronic restrictive interstitial fibrosis

Answer 258

Malar "butterfly" rash

Answer 259

Drug-induced Lupus Hydralazine Procainamide D-penicillamine Isoniazid

Answer 260

Sjogren syndrome keratoconjuctivitis (dry eyes) xerostomia (dry mouth) associated w/ increased risk of non-Hodgkin lymphomas

Answer 261

Antiphospholipid antibody (also SLE) Antiphospholipid antibody syndrome: Hypercoagulable state Recurrent miscarriages (paradoxical increase in PTT)

Answer 262

Compression of median nerve Pain & paresthesias (pins and needles) Weakness of thumb abduction and thenar atrophy Tinel's sign, Phalen's sign (tap on flexor surface of wrist) Associated w/ hypothyroidism (fluid retention) diabetes mellitus rheumatoid arthritis dialysis-associated amyloidosis (deposition of B2-microglobulin)

Answer 263

Increase release of NE & insulin

Answer 264

Bronchodilation, vasodilation Uterine relaxation

Answer 265

Trigeminal (CNV)

Answer 266

Facial (CNVII)

Answer 267

Glossopharyngeal (CNIX) Common carotid a. Internal carotid a.

Answer 268

Superior laryngeal - Vagus (CNX) Subclavian aa

Answer 269

Recurrent laryngeal - Vagus (CNX) Pulmonary aa. Ductus arteriosus

Answer 270

somatomedin C = insulin-like growth factor-1 (IGF-1) directly inceased when GH secreted Results in gigantism in child unlike excessive estrogen which can cause premature closure of epiphyseal plates in child

Answer 271

Upper lung predominant Associated w/ smoking Macrophages and neutrophils

Answer 272

Lower lung lobes a1-antitrypsin deficiency --> excess neutrophil elastase inside alveoli

Answer 273

Compensatory hyperinflation - compensation for collapsed lobes or surgically removed Obstructive hyperinflation - fixed or ball valve obstruction (mucus plug, bronchogenic carcinoma) of bronchiles/bronchus

Answer 274

Toxic megacolon - cessation of neuromuscular activity --> rapid colon distention --> rupture likely (life threatening perforation) Diagnosis w/ plain abdominal X-ray Barium constrast studies & colonoscopy contraindicated (could potentiate rupture)

Answer 275

Adenocarcinoma

Answer 276

Small cell carcinoma (central) - associated w/ Cushing syndrome, siADH, Lambert-Eaton syndrome (other neuroendocrine diseases) Squamous cell carcinoma (necrosis & cavitation, central) - associated w/ hypercalcemia

Answer 277

Gluteus medius Gluteus minimus

Answer 278

Adductor brevis, longus, magnus

Answer 279

Iliopsoas Sartorius Rectus femoris Tensor fascia lata

Answer 280

Gluteus maximus Semitendinous Semimembranous Biceps femoris (long head)

Answer 281

External abdominal obliques Rectus abdominis Hip flexors (iliopsoas = psoas major, minor & iliacus)

Answer 282

cystic hydroma = neck mass (tumor) apparent at birth in Turner's syndrome 45XO Streak ovaries (primary amenorrhea) Coarctation of aorta lymphedema (swelling of hands and feet)

Answer 283

Turner syndrome

Answer 284

Polycystic ovarian syndrome

Answer 285

round face cat-like cry microcephaly

Answer 286

21-hydroxylase deficiency Salt wasting Ambiguous genitalia (females only)

Answer 287

Androgen insensitivity syndrome Defect in testosterone receptors 46XY karyotype - appears FEMALE Blind-ended vaginal pouch Absence of uterus

Answer 288

Shunts oxygenated blood from pulmonary artery --> descending aorta (to rest of systemic circulation) -- bypasses lungs (since lungs aren't mature)

Answer 289

ligamentum arteriosum

Answer 290

Umbilical vein --> liver --> ductus venosus (bypass hepatic circulation) --> IVC --> right heart --> could go to lungs or go through foramen ovale --> left heart --> systemic circulation

Answer 291

ligamentum teres

Answer 292

Fetal internal iliac aa. (carry deoxygenated blood back to placenta)

Answer 293

Ductus venosus (in liver) Blood from umbilical veins go directly to IVC (most O2 content available)

Answer 294

Red - filters/destroys old RBCs White - splenic macrophages present antigens to B and T cells Spleen - site of extramedullary hematopoiesis Antibody synthesis

Answer 295

Splenic opsonizing antibody --> clearance of encapsulated species (S. pneumoniae, H. influenzae, N. meningitidis)

Answer 296

Factor V Leiden mutation Factor Va remains activated --> hypercoagulable state --> abnormal venous thromboses (in young patient w/ no risk factors)

Answer 297

Hypercoagulability Lupus anticoagulant and/or anticardiolipin antibodies prolonged aPTT -- Lupus anticoagulant most prevalent

Answer 298

Hyperhomocysteinemia --> prothrombotic state

Answer 299

Multiple sex partners; first intercourse at young age, prostitution all increase risk of HPV 16 & 18 --> severe cervical dysplasia or carcinoma in situ

Answer 300

Pulmonary embolism -- pulmonary obstruction increase pulmonary resistance --> increases right ventricular afterload (can't pump out as much to lungs because of increased pressure in lungs) --> right heart failure Ventilation/perfusion mismatch = appropriate air going into alveoli but obstruction results in less blood supply to all areas of lung --> insufficient gas exchange

Answer 301

Pulmonary fibrosis Hyaline membrane disease

Answer 302

A-a gradient normal because both arterial and alveolar PO2 are low

Answer 303

Marrow falure associated with: thymoma lymphocytic leukemias parvovirus B19 infection

Answer 304

Acute abdominal pain Peripheral neuropathy Hyponatremia

Answer 305

junction of ascending loop and distal tubule (regulates GFR)

Answer 306

Liver makes more transferrin (to increase efficiency at "grabbing" any Fe available) TIBC increase (bc more transferrin is made) - body tries to increase likelihood of attaining as much Fe as possible in Fe depleted conditions (anemia)

Answer 307

Folic acid or vitamin B12

Answer 308

High intracellular Ca2+ or high EPI/NE --> hyperexcitability --> delayed afterdepolarizations could lead to ventricular tachycardia --> death

Answer 309

decreased action potential duration --> decreased refractory period --> cell depolarizes more frequently --> a. fib

Answer 310

Stimulation of chemoreceptor trigger zone in area postrema (dorsal medulla near 4th ventricle)

Answer 311

CN V-VIII corticospinal tract medial lemniscus lateral spinothalamic tract

Answer 312

CMV Treat w/ ganciclovir (targets CMV DNA polymerase) to prevent retinal detachment

Answer 313

vWF deficiency decrease platelet adhesion (since vWF binds gpIb on platelet --> helps attach platelet to subendothelial collagen) vWF carries factor VIII (impairs an important factor in coagulation pathway) Results in: prolonged PTT (coagulation pathway defect) Increased bleeding time (platelet)

Answer 314

Desmopressin (DDAVP) --> stimulates vWF release from endothelium

Answer 315

deficiency of gpIIb/IIIa --> increased mucocutaneous bleeding platelet aggregation decreased w/ addition of ADP

Answer 316

ASA treatment - irreversible inactivation of COX in platelets

Answer 317

Asymptomatic Incidental finding bc it causes PTT prolongation

Answer 318

Hepatic encephalopathy depletion of a-ketoglutarate --> inhibition of Krebs cycle lack of glutaMATE = impaired excitatory neurotransmission excessive ammonia --> depletes glutaMATE (excitatory neurotransmitter) converted by glutamine synthetase to glutaMINE--> accumulation of glutamine--> astrocyte swelling & dysfunction

Answer 319

high alcohol consumption CARNITINE responsible for transport of FA into mitochondria for beta-oxidation

Answer 320

Elevated lactate (esp. in situations w/ elevated production -- sepsis, tissue hypoperfusion) decreases hepatic lactate disposal --> accumulation of lactate

Answer 321

Environmental exposure Sarcoidosis Collagen vascular diseases Idiopathic progressive disease, may require lung transplatition

Answer 322

Intersitial fibrosis causes alveoli walls to collapse --> cystic spaces lined by type II pneumocytes Bronchiolar epithelium (honeycomb fibrosis) Insidious-onset progressive exterional dyspnea, restrictive pulmonary symptoms, cystic airspace enlargement (honeycomb lung)

Answer 323

severe asthma, obstructive features necrotizing vasculitis granulomas & infiltration of vessels/perivascular tissue by eosinophils

Answer 324

Focal necrosis in alveolar walls & intra0alveolar hemorrhages --> hemoptysis

Answer 325

Pulmonic stenosis VSD RVH Overriding aorta (straddling VSD)

Answer 326

Pulmonic stenosis increases pressure in RV so that it is sometimes equal to LV pressure Degree of pulmonic stenosis determine whether blood is shunted from L-->R or R--> L when blood is shunted L-->R, there's no cyanosis

Answer 327

IgA nephropathy (Berger disease)

Answer 328

Henoch-Schonlein disease

Answer 329

IgA nephropathy: develops few days after infection IgA mesangial deposition Post-Strep GN: develops WEEKS after infection C3 levels low

Answer 330

excess water, Na+, and K+ loss in stool inhibits gastric acid secretion watery diarrhea hypokalemia achlorhydria

Answer 331

Terminal ileum reabsorbs bile acids -- in Crohn's, the terminal ileum most often affected --> no reabsorption of bile Ratio of cholesterol:bile acid increases --> cholesterol precipitates in bile of the gallbladder as gallstones

Answer 332

Abdominal aorta, inferior vena cava (rapid blood loss --> hemorrhagic shock) Pancreas (except tail), kidneys, adrenal glands parts 2, 3, and portion of 4 of the duodenum ascending & descending colon, rectum ureters, bladder

Answer 333

transverse colon, liver, spleen

Answer 334

Bicuspid aortic valve early systolic, high frequency click heard over cardiac apex can progress to aortic stenosis/regurg

Answer 335

ASD fixed splitting of second heart sound VSD holosystolic murmur

Answer 336

mitral stenosis mid-diastolic, low-pitched rumbling murmur (may begin w/ opening snap)

Answer 337

MVP Mid-systolic click, late systolic murmur

Answer 338

Migratory superficial thrombophlebitis -- superficial venous thromboses appearing in multiple sites and resolving Indicates visceral cancer - esp. adenocarcinoma of pancreas, colon, lung

Answer 339

Coronary artery vasospam Nitroglycerin (or other vasodilators)

Answer 340

peaked T waves (localized hyperkalemia) ST segment elevation Q waves anterior: V1-V3 I, aVL: lateral

Answer 341

Stable atheromatous lesion WITHOUT thrombus Obstructs greater than 75% of coronary artery lumen

Answer 342

Skin hyperpigmentation Diabetes mellitus Pigment cirrhosis w/ hepatomegaly Associated w/ late stage hemochromatosis

Answer 343

High iron GI absorption Hepatomegaly Skin hyperpigmentation (sun exposed areas) Diabetes mellitus (secondary to pancreatic islet destruction) Arthropathy Cardiac dysfunction & enlargement Elevated plasma iron, serum ferritin, >50% transferrin saturation

Answer 344

Pt. younger than 30 yrs. old Unexplained chronic hepatitis Low serum ceruloplasmin Increased urinary copper excretion Kayser-Fleischer rings

Answer 345

Thromboti occlusion of hepatic veins and/or the intra/suprahepatic inferior vena cava Sinusoidal pressure increae --> portal HTN, ascites, hepatomegaly, splenomegaly

Answer 346

S4 gallop is presystolic sound immediately before S1

Answer 347

Left sided S4 - cardiac apex with pt. in left lateral decubitus position Right sided S4 - lower left sternal border (tricuspid area) w/ patient in supine position

Answer 348

Sudden rise in end diastolic ventricular pressure --> atrial contrac against a stiff ventricle (RVH or LVH) ventricular hypertrophy decreased ventricular compliance --> diastolic dysfunction

Answer 349

S1 = closing of AV valves S2 = closing of semilunar valves (pulmonic and aortic)

Answer 350

Mutated BRAF gene (protein kinase) --> activate signaling pathways --> melanocyte proliferation, metastasis Substitute a glutamic acid for valine (correct) at position 600 Main risk factor for cutaneous melanoma = UV exposure

Answer 351

growth factors (PDGF, EGFR, IGF, TGF)

Answer 352

anterior 2/3: Sensory (pain) - CNV3 (mandibular branch of trigeminal) Taste - CNVII (facial) posterior 1/3: sensory & taste - CNIX

Answer 353

Fluid-filled peritoneal sac within scrotum due to incomplete obliteration of processus vaginalis processus vaginalis is projection of peritoneal cavity that accompanies descending testis into scrotum

Answer 354

Spider angiomas Dependent on estrogen

Answer 355

Cavernous hemangiomas - associated w/ von Hippel-Lindau disease

Answer 356

Turner syndrome Down syndrome

Answer 357

Cherry - in adults - increase in number w/ age -- proliferation of capiallaries and post-capillary venules in papillary dermis Strawberry - in children -- present in first weeks of life - regress spontaneously by 5-8yrs

Answer 358

IV hydration with normal saline & insulin Insulin decreases lipolysis, decrease production of ketone bodies (increase plasma bicarbonate), decrease K+, decrease glucose, decrease osmolality Increases sodium and serum bicarbonate

Answer 359

mental status changes, dehydration, abdominal pain, tachypnea, fruity odor in breath hyperpnea (Kussmaul respirations) - deep slower breathing to have compensatory respiratory alkalosis (due to metabolic acidosis condition) increased anion-gap metabolic acidosis

Answer 360

treats opioid overdoses --> respiratory acidosis due to hypoventilation

Answer 361

PaCO2 = (1.5 x HCO3-) + 8 +- 2

Answer 362

Used to evaluate respiratory compensation when there is metabolic acidosis (diabetic ketoacidosis) PaCO2 > predicted: concurrent respiratory acidosis PaCO2 < predicted: concurrent respiratory alkalosis If PaCO2 persists above range given by Winter's formula --> patient unable to compensate - has mixed acid-base disturbance consisting of metabolic and respiratory acidoses --> respiratory failure

Answer 363

Hepatocellular carcinoma (HCC)

Answer 364

Colorectal cancer

Answer 365

Ovarian cancer other cancers: endometriosis lung breast pancreatic* cancer

Answer 366

Secondary prostate tumor marker antigen also in patients w/ active osteoclast-initiated bone resorption

Answer 367

suspected gestational trophoblastic disease

Answer 368

spinal scoliosis and/or kyphosis lens dislocation cystic medial degeneration of aorta --> aortic dissection (cause of death) defect in glycoprotein fibrillin-1

Answer 369

Li-Fraumeni syndrome several cancers appear cancers occur at young age cancers appear several times throughout lifetime

Answer 370

Bcl-2 (proto-oncogene) overexpression --> antiapoptosis of tumor cells (immortality) t(14;18)

Answer 371

Bcr-abl t(9;22) Philadelphia chromosome

Answer 372

EBV C-myc overexpression t(8;14) -- heavy chain on chromosome 14 High mitotic index w/ high cell death rate Benign macrophages engulf cellular debris --> clear spaces around macrophages = "starry sky appearance" adolescents and young adults African form: jaw lesion Endemic form: pelvis or abdomen involved

Answer 373

LV free wall rupture (complication) Occurs when coagulative necrosis + neutrophil infiltration have weaked infarcted myocardium = wall is damaged and more likely to rupture symptoms: profound hypotension & shortness of breath; jugular venous pressure elevation LV hypertrophy and prior MI decreases chance of free wall rupture

Answer 374

LV failure/cadiogenic shock

Answer 375

Systemic bleeding, especially intracranial hemorrhage

Answer 376

rheumatic heart disease antibodies against M-proteins of Streptoccocci

Answer 377

Wegeners's (granulomatosis w/ polyangiitis) upper resp. tract (sinusitis, nasal ulceration) lower resp. tract (hemoptysis) kidneys (RPGN) c-ANCA pauci-immune: no anti-GBM antibodies or immune complexes

Answer 378

SLE circulating immune complex nephritis dsDNA & anti-Sm

Answer 379

CREST syndrome calcinosis, Raynaud's, esophageal dysmotility, scerodactyly, telangiectasia anti-centromere antibodies

Answer 380

Cricopharyngeal muscle dysfunction -- diminished relaxing of pharyngeal mm. during swallowing --> increased pressure in pharynx eventually causes mucosal to herniate out = Zenker diverticulum (false) diverticulum palpated as lateral neck mass food retention in diverticulum --> regurgitation occurs days later --> aspiration pneumonia

Answer 381

Processus vaginalis remains patent --> fluid from peritoneum accumulates in scrotum normal development: testis descends through inguinal canal; peritoneal tissue also descend = processus vaginalis

Answer 382

Sarcoidosis elevated ACE levels chronic restrictive granulomatous interstitial lung disease

Answer 383

T -cell response (NOT B-cell response) Vaccines generally stimulate B-cells --> memory B lymphocytes & humor immunity

Answer 384

Compression Trauma Diabetic vasculopathy Vasculitis

Answer 385

p-ANCA (perinuclear staining antineutrophil cytoplasmic antibodies) microscopic polyangiitis or Churg-Strauss vasculitis

Answer 386

idiopathic systemic vasculitis adult-onset asthma eosinophilia mono or polyneuropathy migratory/transient pulmonary infiltrates paranasal sinus abnormalities

Answer 387

Person works in shipyard - exposure to asbestos neoplasm of plerua/peritoneum hemorrhagic pleural effusions & pleural thickening EM gold standard for diagnosis: numerous long slender microvilli & abundant tonofilaments

Answer 388

type of adenocarcinoma PERIPHERY of lung (peripheral mass) - pneumonia like consolidation distribution along alveolar septa

Answer 389

Major bronchi hilar mass Neuroendocrine markers - chromogranin & synaptophysin+

Answer 390

hilar mass keratinization & intercellular bridges cavitary lung lesion

Answer 391

t(11;14) Immunoglobulin heavy chain (IgH) is on 14 cyclin D1 -- promoter of G1 to S-phase transition

Answer 392

Breast cancer Ovarian cancer Lynch syndrome Ceroderma pigmentosum Fanconi anemia

Answer 393

X-linked (affects males) factor VIII deficiency prolonged PTT hemorrhage into joints (hemarthrosis); prolonged bleeding after surfical procedures

Answer 394

factor IX deficiency Christmas disease prolonged PTT

Answer 395

Lack of protein C --> procoagulation Suffer from recurrent deep venous thromboses

Answer 396

PT prolongation Warfarin -- blocks coagulation factors --> also causes PT prolongation

Answer 397

Defect in platelets --> bleeding time prolongation also seen in vWF disease and NSAIDs

Answer 398

rate of conversion of fibrinogen --> fibrin thrombin time prolonged when there is deficiency/defective fibrinogen

Answer 399

Hemolytic anemia

Answer 400

Neural crest cells migrate caudally --> rectum and anus always involved if neural crest cells cease to move in development; sigmoid colon involved 75% of time Absence of parasympathetic ganglion cells = bowel lumen smaller due to inability to relax Newborns fail to pass meconium - intestinal obstruction --> bilous vomiting, abdominal distension; tone of anal sphincter usually increased

Answer 401

Pseudogout: Knee joint Rhomboid-shaped positive birefringent Calcium pyrophosphate crystals Gout: 1st metatarsophalangeal joint Monosodium urate (salt of uric acid)

Answer 402

Calcium hydroxyapatitie crystals in periarticular soft tissue (esp. tendons) Rotator cuff usually affected

Answer 403

Soft tissue deposits of cholesterol Hyperlipidemia Yellow papules on knees, elbows, tendon insertion sites

Answer 404

Salicylates given to patients 5-14yrs old. Hepatic dysfunction -- vomiting & hepatomegaly Microvesicular steatosis Increased levels of ALT, AST, ammonia, bilirubin, prolonged PT and PTT Encephalopathy - hyperammonemia --> cerebral edema

Answer 405

Kawasaki disease Vasculitis of medium-sized arteries (affects children) Conjunctivitis Cervical lymphadenopathy Periungal desquamation (fingers) Mucocutaneous changes (strawberry tongue)

Answer 406

Occurs in liver of patients w/ right sided heart failure

Answer 407

Autoimmune destruction of intrahepatic bile ducts; granulomatous inflammation: infiltration of macrophages, lymphocytes, plasma cells, eosinophils Cholestasis Middle aged woman w/ PRURITUS (more severe at night), PALE stool, xanthelasma (suggestive of cholestasis) Hepatosplenomegaly

Answer 408

Primary sclerosing cholangitis

Answer 409

The end volumetric pressure that stretches the right/left ventricle of the heart - initial stretching of cadriomyocytes prior to contraction (related to sarcomere length at end of diastole) VOLUME in heart after LV filling

Answer 410

Tension or stress developed in the wall of left ventricle during ejection (load against which heart has to contract to eject blood) -- PRESSURE that heart LV has to pump against and overcome to eject blood

Answer 411

Bronchial arteries return deoxygenated blood (blood that has traveled to supply bronchi and bronchioles) to the pulmonary veins -- this results in venous admixture in the pulmonary veins of deoxygenated blood from bronchial arteries & oxygenated blood from the lungs

Answer 412

pH > 7.45 alkalosis pH < 7.35 acidosis pCO2 normal = 40 HCO3- normal = 24

Answer 413

Heroin suppresses respiratory centers --> hypoventilation w/ rentention of CO2 (acute phase) In chronic respiratory acidosis - kidneys compensate by excreting H+ and reabsorbing HCO3-

Answer 414

Overuse of diuretics --> volume loss --> increase in aldosterone --> increase rention of Na+ and H2O --> loss of K+ and H+ in kidneys --> loss of H+ causes metabolic alkalosis (contraction alkalosis) bc H+ is traded for HCO3- reabsorption --> lab findings: high pH, high HCO3-, high pCO2 (CO2 retained to compensate for alkalosis)

Answer 415

low pH, low HCO3- (to neutralize accumulated acidic products) leading to metabolic acidosis, low pCO2 (hyperventilation or Kussmaul breathing to compensate for acidosis)

Answer 416

Have several intracytoplasmic fat droplets Contain more mitochondria than white adipose Uncouples oxidative phosphorylation with protein thermogenin

Answer 417

reduced LV compliance -- diastolic dysfunction --> CHF restrictive cardiomyopathies = amyloidosis, sarcoidosis, metastatic cancer, products of inborn metabolic errors contrast with: dilated cardiomyopathy -- systolic dysfunction viral myocarditis, alcohol toxicity, diphtheritic myocarditis, doxorubicin (adrianmycin) & daunorubicin -- chemo agents also cause dilated cardiomyopathy

Answer 418

Denture wearers Diabetics Immunosuppressed patients (HIV) Steroid use Antibiotics, chemotherapy

Answer 419

Precancerous lesions w/ white patches that can't be scraped off contrast w/ candida infection (oral thrush) -- contains white patches that CAN be scraped off

Answer 420

Microsporum species causing dermatophytosis

Answer 421

Cause: incompetent venous valves, venous stasis/congestion, edema, increased thrombosis Complications: painful thromboses, stasis dermatitis, skin ulcerations, poorly healing wounds, superficial infections NO pulmonary embolism -- this is only seen in DEEP venous thromboses (not superficial!)

Answer 422

Soft blue compressible masses on light microscopy -- large dilated vascular spaces

Answer 423

Microangiopathic hemolytic anemia (TTP, HUS, DIC) Mechanical damage (prosthetic valve)

Answer 424

Similar symptoms: fever, neurologic manifestations, renal failure, thrombocytopenia, microangiopathic hemolytic anemia TTP: adults - neurological symptoms predominate HUS: children - renal involvement predominate

Answer 425

Spironolactone Amiloride Triamterene K+ sparing diuretics work at collecting duct

Answer 426

S. aureus -- in IV drug users Perforations to heart valves, rupture of chordae tendinae, septic emboli to lung

Answer 427

Rheumatic fever history left patient with mitral stenosis --> now has another acute case of rheumatic fever

Answer 428

Colonic cancer (or other GI malignancy) Bacteremia Endocarditis

Answer 429

HACEK organisms Haemophilus Actinobacillus Cardiobacterium Eikenella Kingella

Answer 430

Shaking chills (rigors), high fever, dyspnea on exertion, malaise Right sided endocarditis --> septic embolization into lungs --> pulmonary abscess Left sided endocarditis --> heart failure, sepsis, septic embolization to brain & end organs

Answer 431

Low cholesterol levels High bile acid levels Phosphatidylcholine -- allows cholesterol to be more soluble Obtain cholesterol by 1) absorption & 2) hepatic synthesis of cholesterol via HMG-CoA reductase

Answer 432

Free cholesterol converted to cholic and chenodeoxycholic acids (bile acids) Bile acids conjugated --> glycine or taurine --> bile salts --> secreted into bile canaliculi Phosphatidylcholine makes cholesterol more soluble Gallbladder hypomotility & more cholesterol --> precipitation of gallstones

Answer 433

Strictures: due to chronic inflammation --> edema & fibrosis --> narrowed lumen (strictures) Fistulas: inflammation + necrosis --> ulcer formation --> ulcer penetrates entire intestinal wall (transmural) --> formation of fitula *Ulcerative colitis: damage limited to mucosa and submucosa

Answer 434

Toxic megacolon affects both Crohn's and UC; neuromuscular degeneration of intestinal wall --> rapid dilation --> bowel perforation

Answer 435

Hypoalbuminemia & prolonged prothrombin time (PT) both indicate decrease in hepatic function = liver failure alcoholic steatosis & alcoholic hepatitis (reversible) alcoholic cirrhosis (irreversible) cirrhosis = hepatocellular injury + loss of hepatic function

Answer 436

Biliary disease has elevated alkaline phosphatase use serum GGT to determine biliary disease (as opposed to bone disease)

Answer 437

Liver fibrinogen is coagulation factor and acute phase protein -- increase in response to infection/acute inflammation Liver failure failure = loss of hepatic function to make coagulation factors = LOW liver fibrinogen

Answer 438

IgG4 antibodies to phospholipase A2 receptor (found in podocytes)

Answer 439

abnormal T cell production --> glomerular permeability --> fusion of foot processes --> proteinuria

Answer 440

IgM deposition in glomerulus --> basement membrane thickening & cellular proliferation

Answer 441

Deposition of light chains (cast nephropathy)

Answer 442

Membranous GN

Answer 443

Increase PTH Decrease calcitonin Increase 1,25-

Answer 444

"Secondary hyperparathyroidism" Increase PTH Increase calcitonin (kidneys can't excrete calcitonin) Decrease 1,25-

Answer 445

Decrease PTH Decrease calcitonin Decrease 1,25-

Answer 446

Decrease PTH Increase calcitonin Decrease 1,25-

Answer 447

Sickle cell anemia patients Vaso-occlusive crises --> repeated splenic infarctions --> shrunken, discolored, fibrotic spleen Brownish discoloration (hemosiderosis) due to extensive sickled RBCs by splenic macrophags (extravascular hemolysis)

Answer 448

abdominal pain resolved w/ analgesics + hydration acute chest syndrome -- vaso-occlusive crisis localized to pulmonary vasculature (precipitated by pulmonary infection)

Answer 449

Lysosomal lipid storage disorders (Gaucher's disease)

Answer 450

Proximal tubules Thick ascending limb of loop of Henle Ischemic ATN = most common cause of intrinsic renal failure (acure renal failure) in hospitalized pts. Muddy brown casts seen

Answer 451

Low cardiac output (cardiac arrest) --> ATN --> increased BUN and creatining & oligouria Proximal tubules & thick ascending limb of loop of Henle most susceptible to ischemia (ATP-consuming activities of ion transport)

Answer 452

Flattening of epithelial cells; loss of brush border in proximal tubular cells --> cell necrosis --> denudation of tubular basement membrane

Answer 453

Diabetes Analgesic nephropathy Sickle cell disease Severe obstructive pyelonephritis

Answer 454

Jaundice - due to unconjugated hyperbilirubinemia (yellow sclera) Pigmented gallstones Depressed RBC indices Painful crises -- bone ischemia/necrosis --> Staph & Salmonella osteomyelitis

Answer 455

GBS H. influenzae S. pneumoniae M. meningitidis S. typhi

Answer 456

Young children w/ sickle cell Vasooclussion --> splenic pooling of RBCs Medical emergency!! Marked decrease in Hgb, rapidly enlarging spleen, possible hypovolemic shock

Answer 457

Megaloblastic anemia -- impaired DNA syntheis Lack of folic acid or vitamin B12 Hemolytic anemias predisposed to develop folic acid deficiency b/c of increase RBC turnover (use up all folic acid for DNA synthesis to make new RBCs) Low folic acid --> impaired DNA synthesis BUT RNA synthesis is not affected --> cytoplasmic contents accumulate (cells swell and get bigger) but can't divide (bc lack DNA material) --> macrocytosis

Answer 458

Pigmented gallstones Liver-associated macrocytosis = alcoholic liver disease

Answer 459

Internuclear ophthalmoplegia (MLF syndrome) -- MULTIPLE SCLEROSIS loss of coordination of lateral conjugate gaze decreased/blurred vision, central scotoma, monoocular blindness, painful eye movements Sensory loss, arm/leg weakness, cerebellar symptoms (clumsiness, ataxia) also seen

Answer 460

Sclerotic plaques -- appear anywhere in the white matter Plaques form due to demyelination of axons Changes of white matter seen inside plaques: Axon demyelination Depletion of oligodendrocytes (can't make more myelin) Accumulation of lipid-laden macrophages (chew up products of myelin breakdown) Fibrillary astrocytosis (astrocyte proliferation reaction to injury) Infiltration by lymphocytes & monocytes

Answer 461

Myasthenia gravis Autoantibodies to Ach receptors

Answer 462

Anaphylaxis Mass is due to Echinococcus granulosus --> forms hydatid cysts Rupture of cyst contents --> anaphylactic shock Aspiration of cysts contraindicated. Larvae implant in capillaries --> inflammatory rxn --> monocytes and eosinophils Hydatid cyst is encapsulated & calcified; contains flui and budding cells Rx: surgery, chemo, mebendazole/albendazole

Answer 463

Fatty streaks: lipid-filled foam cells that have entered intima through injured, leaky endothelium; foamy appearance due to intracellular lipid-containing phagolysosomes (foam cells derived from macrophages & smooth muscle cells that have engulfed LDL) fatty streaks can be seen in aortas of children <1yr old -- can progress to form atheromatous plaques, but NOT ALL progress to advanced atherosclerotic plaques

Answer 464

Hemiazygous vein Azygous vein Accessory hemiazygous vein

Answer 465

H. pylori --> duodenal ulcer Uses urease to degrade urea into CO2 and NH3

Answer 466

Echocardiogram

Answer 467

High resolution chest CT

Answer 468

Stapedius n. (CNVII) innervates stapedius m. --> paralysis of m. allows wider oscillation of stapes --> increased sensitivity to sound

Answer 469

Damage to stereociliated hair cells of organ of Corti

Answer 470

Rupture of tympanic membrane Defects of middle ear ossicles

Answer 471

Sound --> middle ear via tympanic membrane Vibration --> oval window via ossicles Oval window vibration --> basilar membrane vibration --> hair cell cilia bends against tectorial membrane Hair cells bending --> oscillating hyperpolarization & depolarization of auditory nerve

Answer 472

Carotid sinus - Glossopharyngeal n. Aortic arch - Vagus n. Stimulation of stretch receptors --> vasodilation, decrease in HR and contractility, decrease in BP

Answer 473

Iron deficiency anemia esophageal web = Plummer-Vinson microcytic hypochromic RBCs rx: give iron preparation

Answer 474

Megaloblastic anemia