Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

USMLE > Final Mix > Flashcards

Final Mix Flashcards

You may prefer our related Brainscape-certified flashcards:
USMLE® Step 1 flashcards
1
Q

Lead poisoning

A

Inhibits Ferochelase and ALA dehydratase

^ ALA/ Protopophyrin

*Macrocytic anemia, Kidney dz

BASOPHILIC STIPPLING

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Langerhans histocytosis

A

Birbeck granules (tennis racket)

Lytic bone lesion + rash and otitis media

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Glanzman Thromboblasthenia

A

Decreased GpIIb/IIIa- aggregation defect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Hodgkins Lymphoma

A

Reed Steinberg cells

Continuous spread EBV associated

-Generally good prognosis

Prognosis better when Lymphocytes>Reed steinberg

Usually in younger or older

Fever, weight loss, night sweats,

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Essential Fructosuria

A

Fructokinase D (AR)

Benign

fructose in urine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

McArdle DZ

A

MYOPHOSPHORYLASE (skeletal M glycogen phosphorylase) D AR

*^ Muscle glycogen, painful muscle cramps and osmotic lysis of muscle cells with exercise.

*rare arrhythmias

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Pompe DZ

A

Lysosmal alpha 1-4 Glucosidease D (AR)

*endsosomal glycogen deposits

*CARDIOMYOPATHY –>Death (heart)

*SYSTEMIC DISEASE –>Death (liver muscle)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Folate B9

A

Deficiency: Phenytoin, sulfonamides, MTX

*Increased cysteine with normal methylmmmalonyc acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Glycolysis

A

PFK1

^AMP, F2-6P

v ATP, Citrate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

De Novo Purine Synthesis

A

PRPP amidotransferase

v AMP, IMP, GMP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Minimal Change Dz

A

Nephrotic

LM-Normal

EM- Foot process effacement

*Kids

*infection, immunization etc.

*Hodgkins

TX: CORTICOSTEROIDS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Acute Intermittent Pophyria

A

Porphobilinogen Deaminase D causes ^ PORPHOBILINOGEN ,ALA, Coporhobilinogen

*Early Heme synthesis

*Painful abdomen, PORT WINE URINE- darkens on standing, Polyneuropathy, psychological

*PRECIPITATED BY DRUGS, ETOH, STARVATION TX: Glucose and HEME –IALA synthase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Irreversible enzymes of Gluconeogenesis

A

Pyruvate carboxylase

PEP carboxyKinase

F1-6Pase

G6Pase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Tay-Sachs disease

A

Hexosaminidase A D (AR) Buildup of GM2 GANGLIOSIDE

*Cherry red spot on macula,

ONION SKINNING of lysosomes

*Progressive neurodegeneration

DEATH BY AGE 4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Urea Cycle

A

Carbamoyl phosphate synthetase I

^ N-Acetyl glutamate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Diffuse Proliferative GN

A

SLE/MPGN “Wire looping” of capillaries

SubENDOthelial and intramembranous IgG with C3 deposition

NEPHROTIC OR NEPHRITIC

MOST COMMON CAUSE OF DEATH IN SLE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

HUS

A

Hemolysis, uremia, thrombocytoopenia

Post EHEc common

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Lysosomal Storage Diseases

A

I Cell DZ

Fabry

Gauchier

Niemann-Pick

Tay Sachs

Krabbe

Metachromatic leukodistrophy

Hurler syndrome

Hunter Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Von Gierke DZ

A

G6Pase D (AR)

*Severe fasting hypoglycemia

*^ Glycogen in liver/ HEPATOMEGALY

*^ Blood lactate

TX: Oral cornstarch and frequent feeding.

Avoid galactose and fructose

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Membranous Nephropathy

A

Nephrotic LM- diffuse capillary and GBM thickening

IF- granular immune deposition

EM- Spike and Dome w/SUBEPITHELIAL deposits

*Most common 1ary caucasian nephrosis

*Anti-phospholipid A2 receptor

*HBV, HCV, SLE, TUMOR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

RPCGN

A

Goodpasture Wegener’s GPA

Microscopic polyangiitis

Crescent moon shaped fibrin, protein, and leukocyte infiltration

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Classic Galactosemia

A

Galac1P Uridyltransferase D (AR) causes ^GALACTITOL

*Infantile Cataracts

*Failure to thrive

*jaundice

*hepatomegaly

*intellectual Disability

TX: Exclude galactose and Lactose from diet

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Kawasaki disease

A

Fever 4 days + CRASH - Conjunctivitis, Rash, Adenopathy, Strawbery tongue, Hands and feet.

*Necrotising vasculitis of medium arteries including coronaries (risk for aneurysm/thrombosis/rupture)

TX: IVIG and ASPIRIN

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

IL12R Deficiency

A

Decreased Th1- TB all the time (and fungal)

v IFN gamma (treat with supplemental)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Acute post strep GN

A

Hypercellular glomeruli with “lumpy bumpy” immune complexes along BM and mesangium

SubEPITHELIAL humps on EM

cola colored urine, HTN, decreased complement levels

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

N-Acetylglutamate deficiency

A

Needed for CPS 1 –> hyperammonemia ^ornathine without orotic aciduria

Normal urea cycle enzymes/ No enzyme deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Maple Syrup Urine Disease

A

Alpha Keto-acid Dehydrogenase D (AR) B1 FAD NAD dependent

I Love Vermont- Isoleucine, Leucine, Valine

*CNS Defects

*Intellectual diability

*death

TX: Restrict ILV, Thiamine supplement

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Nephrotic syndrome

A

>3.5g Proteinuria

Hyperlipidemia Fatty casts

Thromboembolism (ATIII loss)

^ Risk of infection

FSGS, Membranous Nephropathy, Minimal change Dz, Amyloidosis, Membranoprolferative GN, Diabetic Glomerulonephropathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Weber syndrome

A

Paramedian stroke

*Ipsilateral Oculomotor nerve palsy

*Contralateral Hemiparesis

*Contralateral Hypoglossal palsy

*Contralateral parkinsonism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

B6 Pyridoxine

A

Pyridoxal Phosphate Vital to ALT and AST function

Transamination, decarbox, glycogenolysis, many neurotransmitters etc Defieciency-

*GABA deficiency- Convulsions, hyperirritability, peripheral neuropathy

*Can be caused by INH and OCP

*Sideroblastic anemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Follicular lymphoma

A

t14:18 IgG BCL2

vApotosis Adults Indolent with “WAXING AND WANING LYMPHEDENOPATHY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Hartnup Dz

A

Cant uptake neutral AA Tryptophan/ Niacin Deficiency

*Pellagra: Dermatitis, diarrhea, dimentia

TX: Niacin supplements

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Focal Segmental Glomerulosclerosis

A

Nephrotic

LM- Segmental sclerosis and hyalinosis LM

EM- Foot process effacement- Like minimal change

AA/Hispanic HIV, SS Dz, Heroin abuse, Obesity, IFN treat, CKD- congenital or removal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Niacin- B3

A

NAD factor- can be derived from tryptophan

Deficiency- Pellagra

*Dermatitis *Dementia *Diarrhea

Excess- Facial flushing Hyperglycemia Hyperuricemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Alport syndrome

A

IV collagen problem

BM thinning Glomerulonephritis, deafness, eye problems

“Cant pee, cant see, cant hear high C”

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Temporal Giant Cell Arteritis

A

Most common in elderly females

Unilateral headache

Focal granulomatous inflammation of carotid artery branches

can cause blindness due to ophthalmic occlusion.

TX: CORTICOSTEROIDS

Associated with Polymyalgia rheumatica

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Alport syndrome

A

IV collagen problem BM thinning Glomerulonephritis, deafness, eye problems “Cant pee, cant see, cant hear high C”

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Mantle cell lymphoma

A

Older males

  • 11:14 translocation
  • IgG and Cyclin D
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Gaucher DZ

A

MOST COMMON GLUCOCEREBROCIDASE D (XR) leads to ^ GLUCOCEREBROSIDE

*hepatosplenomegaly

*pancytopenia

*Aseptic necrosis of femur

*bone crises

*Gaucher Cells- LIPID LADEN MACs RESEMBLING CRUMPLED TISSUE PAPER

TX:rGLUCOCEREBRSIDASE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Acyl- CoA Dehydrogenase D

A

*decreased FA B- Oxidation *v Gluconeogeneis (Acetyl CoA is activator) * Decreased fasting glucose

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

I-Cell DZ

A

Problem attaching M6P to lysosomal proteins in golgi (phosphotransferase D)

Proteins secreted instead (in secretory granules)

*Coarse facial features

*Clouded corneas

*Restricted joint mvt.

*high plasma lysosomal proteins

OFTEN FATAL IN CHILDHOOD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Adenosine Deaminase deficiency

A

(AR) Purine salvage deficiency causing hyper ATP and dATP Negative feedback on purine synthesis Results in a severe combined immunodeficiency -Failure to thrive -Chronic diarrhea -Recurrent infections of all types (Signs: No thymic shadow, v TRECs, no T cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

IgA nephropathy

A

Mesangial proliferation with Mesangial Immune Complexes

Henoch- schonnlein purpura

URI/ gastroenteritis preceeding

Hematuria, RBC casts, arthritis, rash

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Gluconeogenesis

A

F1-6Pase

^ATP , Acetyl CoA

v AMP, F2-6P

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Cori DZ

A

Debranching Enzyme D (AR)

*Branched Glycogen in liver

*Mild hepatomegaly and low fasting glucose

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Mycoses fungoides- Sezary

A

Cerebreform nuclei CD4+

cutaneous patches and lymph tumors

Indolent course

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Alkaptonuria

A

HOMOGENSAtE OXIDASE D (AR)

*Cant degrade tyrosine

*Benign darkening of connective tissue

*Dark urine on standing DEBILITATING Arthritis

33
Q

Wallenberg syndrome

A

Lateral medullary syndrome

PICA Vestibular nuclei, lat. spinothalamic, spinal trigem nuc. nuc ambiguous Sympathetics, inferior cerebellar peduncle

*Vertigo/nystag/vomiting

* v Pain and temp IPSILATERAL face, CONTRALATERAL body

*Dysphagia, hoarseness,

v gag

*Ipsilateral Horner

*ataxia, dysmetria

33
Q

TCA Cycle

A

Isocitrate Dehydrogenase

^ADP

v ATP, NADH

34
Q

Niemann-Pick disease

A

Sphyngomyelinase deficiency (AR) leads to accumulation of SPHINGOMYELIN

*Seen in CNS and cerebellum

*HEPATOSPLENOMEGALY

*Progressive neurodegeneration

*cherry red spot on fundoscopic examiniation

*“Foam cells”

35
Q

TTP

A

ADAMS13 D

*Increased thrombosis- vWF multimers

*Schistocytes,

^LDH

NASTY FEVER TORCHED HIS KIDNEYS

Neuro, Fever, Thrombocytopenia, Hemolysis, Kidney failure

37
Q

Autosomal Recessive disorders

A

ABCDEFGH SPW Albinism/Alpha1AT, Beta thal, CF/CAH, Dubin johnson/deafness, Enzyme Ds(lysosome/glycogen storage), Friedrichs Ataxia/Fanconi, Galactosemia, Hemochromatosis Sickle cell, PKU, Wilsons

38
Q

Vitamin A

A

Antioxidant -differentiation of epithelial cells

-Adjunct to measels treatment,

PML treatment,

Acne (isotretinoin)

Deficiency- Night blindness, dry skin/alopecia, immune D Excess- Pseudotumor cerebri, alopecia and skin changes, Hepatic abnormatities, Cleft palate/Cardiac defects

39
Q

FA Oxidation

A

Carnitine Acyltransferase I / Carnatine Palmitoyl Transferase I

v Malonyl CoA

41
Q

Atypical antipsychotics

A

Olanzapine, clozapine, quetiapine, risperidone, aripiprazol, ziprasodone

41
Q

Cystinuria

A

COLA transporter D (AR)

*Hexagonal renal cysteine stones

*2 Cysteine covalently bonded

TX: Alkalinize urine (acetazolamide), and Chelating agents

43
Q

Henoch-Schonlein Purpura

A

Most common childhood vasculitis following URI

IgA Complex deposition

*Palpable purpura lower extremities

*Arthralgia

*Abdominal pain, melena

Can cause IgA nephropathy

45
Q

FA synthesis

A

Acetyl CoA carboxylase

^ Insulin, Citrate,

v Glucagon, Palmitoyl CoA

47
Q

AD hyper IgE (Job)

A

Stat mutation- No neutrophil recruitment

FATED- course Faces, Abscesses(cold), Teeth(primary retained), IgE, Derm- eczema

^ IgE, v IFN gamma

48
Q

Riboflavin

A

FAD- Component of dehydrogenase reactions (TCA cycle)

Deficiency- Chelosis, Corneal vasculization, dementia, glossitis

50
Q

Acute post strep GN

A

Hypercellular glomeruli with “lumpy bumpy” immune complexes along BM and mesangium SubEPITHELIAL humps on EM cola colored urine, HTN, decreased complement levels

51
Q

Homocysteinuria

A

CYSTATHIONE SYNTHASE D (cant make cysteine) or HOMOCYSTEINE METHYLTRANSFERASE D (cant make methionine)

*^ Homocysteine in urine

*intellectual disability

*tall with Kyphosis and osteoporosis

*Down and in lens subluxation

*Atherosclerosis/ Thromboembolism/ Stroke (EVEN IN KIDS)

TX: Increase cysteine or methionine, B12/B6 supplementation

52
Q

ITP

A

usually post infectious in kids

*Anti GpIIb/IIIa ab

*Thrombolysis,

^ Megakaryocytes on BM smear

53
Q

Marginal maltoma

A

Associated with sjogrens , hashimoto thyroiditis, and H pylori

53
Q

Krabbe Leukodystrophy

A

Galactocerebrosidase D (AR) leads to ^ GALACTOCEREBROSIDE psychosine

*peripheral neuropathy

*Developmental delay

*optic atrophy

*globoid cells

FATAL BEFORE AGE 2

54
Q

PAN

A

Polyartaritis nodosa

* “rosary sign” micro-aneurysms and spasms

* Immune complex involvement of medium sized renal and visceral vessels

*Transmural inflammation with fibrinoid necrosis

*Associated with Hep B Fever, weightloss, malaise, headache, abdominal pain, melena, HTN, neurologic dysfunction

TX: CORTICOSTEROIDS, CYCLOPHOSPHAMIDE

55
Q

Thromboangiitis Obliterans

A

(Buerger DZ) Heavy smokers, male >40 Segmental thrombosing vasculitis

*Claudication causing gangrene, autoamputation, superficial nodular phlebitis and raynauds.

TX: SMOKING CESSATION

57
Q

Burkitt Lymphoma

A

8:14 translocation C myc

Starry sky appearance

EBV associated Jaw lesion in africa

59
Q

Glycogenolysis

A

Glycogen Phosphorylase

^Epi, glucagon, AMP

v G6P, insulin, ATP

60
Q

High potency antipsychotics

A

Try to Fly High

Trifluoperazine, fluphenazine, Haloperidol

PARKINSONISM

61
Q

Fragile X

A

v FMRI Xlinked

*intellectual disability

* Big balls

*Large Jaw

*Large everted ears

*autism

*Mitral prolapse

63
Q

ALL

A

Tcell variety= mediastinal mass

Bone pain Spreads to CNS and testes

Good response to chemo

t(12:21) confers better prognosis DOWNS association

64
Q

Glycogen Synthesis

A

Glycogen Synthase

^G6P, Insulin, Cortisol

v Epi, Glucagon

65
Q

Porphyria Cutanea Tarda

A

UROPOPHRYHOGEN DECARBOXYLASE D

  • ^ Uroporphyrin

*BLISTERING PHOTOSENSITIVITY

*Liver involvement

*Tea colored urine

*hypertrichosis

*facial pigmentation

*HepC, Alcoholism, LFTs

66
Q

Ataxia Telangectasia

A

DS DNA breaks Cerebellar defects, telangectasia IgA deficiency ^ AFP, v IgA,G,E

68
Q

Bernard Soulier

A

decreased GpIb –> Decreased ADHESION to vWf

69
Q

Takayasu Arteritis

A

“pulseless disease”

Granulomatous involvement of aortic arch and great vessels

Young asian females

Fever, night sweats, arthritis, myalgias, skin nodules, ocular disturbances

TX:CORTICOSTEROIDS

71
Q

Galactokinase D

A

AR Galctose in blood and urine (maybe galactitol)

*Infantile cateracts lack of tacking/ social smile

72
Q

Diabetic Glomerulonephropathy

A

Mesangial expansion with GBM thickening.

Eosinophilic nodular glomerulosclerosis “Kimmelstein wilson lesions”

Glycosylation of GBM –> Permeability

Glycosylation of efferent arterioles—> mesangial expansion

73
Q

Metachroomatic Leukodystrophy

A

ARYLSULFITASE A D (AR) leads to ^ CEREBROSIDE sulfate
*Central and peripheral demyelination

*Ataxia

*Dementia

METACHROMATIC staining

73
Q

Biotin B7

A

Carboxylation enzymes:

Pyruvate–>OAA

Acetyl CoA->Malonyl CoA

Pripionyl CoA –> Methylmalonyl

CoA Deficiency: Caused by a ton of raw egg whites or antibiotics

*Dermatitis, alopecia, enteritis

74
Q

Leukocyte adhesion deficiency

A

LFA1 defect

Bacterial infections, impaired healing, delayed umbilical separation

Neutrophilia from decreased margination

75
Q

Membranoproliferative glomerulonephritis

A

Type I - SubENDOthelial immune complex deposits with granular IF-

TRAM TRACK appearance

HBV, HCV, Lupis, Subacute bacterial endocarditis

Type II -Intramembranous

DENSE DEPOSITS. LOW C3

76
Q

Brouton agammaglobinemia

A

X-Linked BTK (Bcell Tyrosine Kinase) deficiency

No adult BCL count

no pro B cells and low Ig(AMGDE)

Bacterial and viral infections

78
Q

Common variable deficiency

A

v B cell differentiation

BRONCHIECTASIS in normal 20-30 yo female (sinopulm infections)

v Plasma cells and IG

80
Q

AML

A

(PML with 15:17) >20% blasts in periphery or >20% in BM

Aurer rods/ faggot cells

Treat with retinoic acid

Can come from myeloproliferative disorders

>60 YO DIC common presentation

82
Q

Hereditary hemorrhaghic telangectasia

A

Telangectasia, epistaxis, AV malformations, GI bleed hematuria

Osler-Weber-Randau

83
Q

Chronic granulomatous dz

A

X linked NADPH oxidase D

^ catalase + organisms

PLACESS Pseudomonas, listeria, Aspergilis, Candida, Ecoli, Staph, Seratia

Dihyrorotamine and nitroblue test

84
Q

Cholesterol Synthesis

A

HMG CoA reductase

^Insulin, T4

v Glucagon, Cholesterol

86
Q

B5 (pantothenate)

A

CoA part - fatty acid synthesis

Deficiency -Dermatitis, enteritis, alopecia, adrenal insufficiency

87
Q

Hurler Syndrome

A

alpha-L-IRONIDASE D (AR) causes ^ HEPARAN & DERMATAN sulfate *Gargoylism *Devo delay *airway obstruction *corneal clouding *hepatosplenomegaly

88
Q

Wiskott-Aldrich

A

X recessive

WATER Wiskott Aldrich

Eczema

Recurrent infections

v IgM,G

^ IgA, E

89
Q

GPA

A

Wegeners Granulomatosis with Polyangiitis

Focal necrotizing vasculitis with granuloma formation

*Perforation of nasal septa, chronic sinusitis, OM, Mastitis

*Hemoptysis, cough, dyspnea

*Hematuria, red cell casts

+cANCA (Anti-neutrophil cytoplasmic antibody)

TX: CORTICOSTEROIDS, CYCLOPHOSPHAMIDE

90
Q

Thiamine B1

A

Part of TTP- necessary in many dehydrogenase reactions
*Pyuvate/ alpha ketoacid dehydro/Transketolase/ Branched chain keto Deficiency-

*Confusion/ophthalmoplegia/ataxia

*Confabulation, personality change- Medial thalamus and mamillary bodies

*Dry Beriberi- Polyneuritis/muscle wasting

*Wet beriberi- High output cardiac failure

*** Give thiamine with glucose to hypoglycemic at risk for deficicency**

91
Q

Carnetine D

A

Unable to transport LCFA into mito for Oxidation

*Weakness/hypotonia

*Hypoketotic hypoglycemia

92
Q

De Novo Pyrimidine synthesis

A

Carbamoyl phosphate synthetase II

94
Q

Autosomal Dominant Diseases

A

MMOOCHA STAND

Marfan/MEN, OI/Osler-weber-rendu, Cholesterolemia, Huntington/vHL, ADPKD/Achondroplasia, Spherocytosis, Tuberous sclerosis, Adenosis polposis, Neurofibromatosis 1/2, Dystrophies myotonic

96
Q

Hunter Syndrome

A

IDURONATE SULFATASE D (XR)

^ HEPARIN DERMATAN SULFATE

*Mild Hurler + Aggressive behavior

*No corneal clouding

97
Q

Fabry Dz

A

ALPHA GALACTOSIDASE A D (XR)

Buildup of CERAMIDE TRIHEXOSIDE

*Peripheral neuropathy

*ANgiokeratomas

*CV/Renal DZ with mesenteric ischemia

98
Q

Churg-Strauss

A

Associated with ASTHMA

EOSINOPHILIC granulomatous necrotizing vasculitis

+pANCA and ^IgE

*Asthma, sinusitis, palpable purpura, PERIPHERAL NEUROPATHY

99
Q

Diffuse Large B Lymphoma

A

T 14:18- ^BCL2 = v Apoptosis

Most common in adults

100
Q

CML

A

t9:22 BCR-ABL constituative kinase Increased myeloid cells

Splenomagaly 45-85 yrs

Imatinib treatment

101
Q

Lesch Nyhan

A

HGPRT Deficiency (XR)

*Excess uric acid production leading to gout

*intellectual disability

*self mutilation

*aggression

*dystonia

TX: Allopurinol and Febuxostat

102
Q

SLL/CLL

A

Small/chronic lymphocytic leukemia

  • B cell leukemia

>60 year olds

SMUDGE CELLS

autoimmune hemolysis

102
Q

HMP Shunt

A

G6PD

^NADP+

v NADPH

104
Q

Adult T Lymphoma

A

HTLV1- retrovirus Cutaneous and bone lesions Japan, west Africa, carribean

105
Q

Chedak Higashi

A

Lysosomal trafficking

*Pyogenic infection

*Partial albinism

*Neuropathy/neurodegen

Inclusion in neutrophils and platelets- Pancytopenia common

107
Q

Ketogenesis

A

HMG CoA Synthetase

109
Q

SCID

A

Aensine deaminase or IL2 Receptor D

*Failure to thive

*Diarrhea

*Recurrent infections

v TRECs, no thymus

TX: BMT

110
Q

Hairy cell leukemia

A

B cell leukemia with pseudopod appearance Older adults TRAP+

111
Q

Fructose intolerance

A

Aldolase B D (AR)

^ F1P and v Available phosphate

*Hypoglycemia

*Jaundice/Cirrhosis

*Vomiting TX: Eliminate fructose and Sucrose from diet

112
Q

Ornithine Transcarbamylase D

A

XR Defect in ornathine + carbamoyl phosphate –> Citruline

Carb Phosphate converted to OROTIC ACID

*^OOROTIC ACID

*^ BUN

*Hyperammonemia and hepatic encephalopathy- (Slurring of speech, somnolence, vomiting, cereberal edema,vision problems)

TX: decrease protein, give BENZOATE, BIOTIN, PHENYLBUTYRATE

113
Q

G6P D

A

XR - African americans

*Inability to produce NADPH - cant reduce glutathione

Hemolysis with oxidative stress (fava beans, sufa, primaquine/chloro, Anti TB drugs)

*Heinz bodies and Bite cells

114
Q

Pyruvate Dehydrogenase Deficiency

A

^ Pyruvate

*Lactic acidosis (2/2 LDH)

*Neuro defects

*Increased alanine (2/2 ALT)

TX: KETOGENIC FOODS (fats) and AA(Lysine Leucine)

115
Q

PKU

A

PHENYLALANINE OH-ASE D or BH4 D (AR)

^ Phenylketones in urine- v aromatic acid metabolism

*intellectual disability

*Mousy/musty smell

*Fair skin

*Eczema

*Growth retardation

TX: Avoid aspartame, dairy, meat, fish, chicken, beans, nuts- BH4 sup.

116
Q

Low potency Antipsychotics

A

Cheating Thieves are Low

Chlorpromazine, Thoradiazine

USMLE (8 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions