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Biochem > Key associations > Flashcards

Key associations Flashcards

1
Q

Mitochondrial inheritance

A

Disease occurs in both males and females, inherited through females only

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2
Q

Intellectual disability

A

Down syndrome, fragile X syndrome

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3
Q

Vitamin deficiency (USA)

A

Folate (pregnant women are at high risk; body stores only 3 to 4 month sypply; prevents neural tube defects)

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4
Q

Lysosomal storage disease

A

Gaucher disease

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5
Q

Food poisoning (exotoxin mediated)

A

S aurues, B cereus

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6
Q

Osteomyelitis

A

S aureus (most common overall)

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7
Q

Bacterial meningitis (adults and elderly)

A

S penumoniae

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8
Q

Bacterial meningitis (newborns and kids)

A

Group B streptococcus/ E coli/ listeria monocytogenes (newborns), S penumoniae/Nmeningitidis (kids/teens)

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9
Q

Bacteria associated with gastritis, peptic ulcer disease, and gastric malignancies (eg, adenocarcinoma, MALToma)

A

H pylori

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10
Q

Opportunistic infection in AIDS

A

pneumocystis jirovecii pneumonia

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11
Q

Helminth infection (US)

A

Ascaris lumbricoides

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12
Q

Myocarditis

A

Coxsackie B

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13
Q

Infection secondary to blood transfusion

A

Hepatitis C

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14
Q

Osteomyelitis in sickle cell diseas

A

Salmonella

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15
Q

Osteomyelitis with IV drug use

A

Pseudomonas, Candida, S aureus

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16
Q

UTI

A

E coli, Staphylococcus saprophyticus (young women)

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17
Q

STD

A

C. trachomatis (usually coinfected with N gonorrhea)

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18
Q

Nosocomial pneumonia

A

S aureus, Pseudomonas, other enteric gram - rods

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19
Q

Pelvic inflammatory disease

A

C trachomatis, N gonorrhea

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20
Q

Infections in CGD

A

S aurues, E coli, Aspergillus (catalase +)

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21
Q

Metastases to bone

A

Prostate, breast>lung, thyroid, kidney

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22
Q

Metastases to liver

A

Colon&raquo_space;stomach> pancreas

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23
Q

S3 heart sound

A

Increased ventricular filling pressure (eg, mitral regurgitation, HF), common in dilated ventricles

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24
Q

S4 heart sound

A

Stiff/ hypertrophic ventricle (aortic stenosis, restrictive cardiomyopathy

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25
Q

Constrictive pericarditis

A

TB (developing world); idiopathic, viral illness (developed world)

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26
Q

Holosystolic murmur

A

VSD, tricuspid regurgitatioin, mitral regurgitation

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27
Q

Ejection click

A

Aortic stenosis

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28
Q

Mitral valve stenosis

A

Rheumatic heart disease

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29
Q

Opening snap

A

Mitral stenosis

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30
Q

Heart murmur, congenital

A

mitral valve prolapse

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31
Q

Chronic arrhythmia

A

Atrial fibrillation (associated with high risk of emboli)

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32
Q

Cyanosis (early; less common)

A

Tetralogy of Fallot, transposition of great vessels, truncus arteriosus, total anomalous pulmonary venous return

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33
Q

Late cyanotic shunt (uncorrected left to right becomes right to left)

A

Eisenmenger syndrome (caused by ASD, VSD, PDA; results in pulmonary hypertension/ polycythemia)

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34
Q

Congenital cardiac anomaly

A

VSD

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35
Q

Hypertetion secondary

A

Renal artery stenosis, chronic kidney disease (eg, polycystic kidney disease, diabetic nephropathy), hyperaldosteronism

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36
Q

Aortic aneurysm, thoracic

A

Marfan syndrome (idiopathic cystis medial degeneration)

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37
Q

Arotic dissection

A

Hypertension

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38
Q

Aortic aneurysm, abdominal

A

Atherosclerosis, smoking is major risk factor

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39
Q

aortic aneurysm, ascending arch

A

tertiary syphilis (syphilitc aortitis), vasa vasorum destruction

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40
Q

sites of atherosclerosis

A

abdominal aorta > coronary artery > popliteal artery > carotid artery

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41
Q

cardiac manifestation of lupus

A

marantic/ thrombotic endocarditis (nonbacterial)

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42
Q

Heart valve in bacterial endocarditis

A

Mitral > aortic (rheumatic fever), tricuspid (IV drug abuse)

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43
Q

Endocarditis presentation associated with bacterium

A

S aureus (acute, IVDA, tricuspid valve), viridans streptococci (subacute, dental procedure), S bovis (colon cancer), culture negative (Coxiella, Bartonella, HACEK)

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44
Q

Temporal arteritis

A

Risk of ipsilateral blidness due to occlusion of ophthalmic artery; polymyalgia rheumatica

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45
Q

Recurrent inflammation/ thrombosis of small/medium vessels in extremities

A

Buerger disease (strongly associated with tobacco)

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46
Q

Cardiac primary tumor (kids)

A

Rhabdomyoma, often seen in tuberous sclerosis

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47
Q

Cardiac tumor (adults)

A

Metastasis, myxoma (90% in left atrium; “ball valve”)

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48
Q

CAH, hypotension

A

21-hydroxylase deficency

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49
Q

Cushing syndrom

A
  • Iatrogenic (from corticosteroid therapy)
  • Adrenocortical adenoma (secretes excess cortisol)
  • ACTH- secreting pituitary adenoma (Cushing disease)
  • Paraneoplastic (due to ACTH secretion by tumors)
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50
Q

Tumor of the adrenal medulla (kids)

A

Neuroblastoma (malignant)

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51
Q

Tumor of adrenal medulla (adults)

A

Pheochromocytoma (usually benign)

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52
Q

Cretinism

A

Iodine deficit/congenital hypothyroidism

53
Q

HLA DR3

A

DM type 1, SLE, Graves disease, Hashimoto thyroiditis (also associated with HLA DR 5), Addison disease

54
Q

Thyroid cancer

A

Papillary carcinoma (childhood irradiation)

55
Q

Hypoparathyroidism

A

Accidental excision during thyroidectomy

56
Q

Primary hyperparathyroidism

A

Adenomas, hyperplasia, carcinoma

57
Q

Secondary hyperparathyroidism

A

Hypocalcemia of chronic kidney disease

58
Q

HLA DR4

A

DM type 1, RA, Addison diseas

59
Q

Refractory peptic ulcers and high gastrin levels

A

Zollinger Ellison syndrome (gastrinoma of duodenum or pancreas), associated with MEN1

60
Q

Esophageal cancer

A

Squamous cell carcinoma (worldwide), adenocarcinoma (US)

61
Q

Acute gastric ulcer associated with CNS injury

A

Cushing ulcer (increased intracranial pressure stimulates vagal gastric H secretion)

62
Q

Acute gastric ulcer associated with severe burns

A

Curling ulcer (greatly reduced plasma volume results in sloughing of gastric mucosa)

63
Q

bilateral ovarian metastases from gastric carcinoma

A

Krukenberg tumor (mucin-secreting signet ring cells)

64
Q

Chronic atrophic gastritis (autoimmune)

A

Predisposition to gastric carcinoma (can also cause pernicious anemia)

65
Q

Gastric cancer

A

Adenocarcinoma

66
Q

Alternating areas of transmural inflammation and normal colon

A

Skip lesions (Crohn disease)

67
Q

Diverticulum in pharynx

A

Zenker diverticulum (diagnosed by barium swallow)

68
Q

site of diverticula

A

sigmoid colon

69
Q

Hepatocellular carcinoma

A

Cirrhotic liver (associated with hepatitis B and C, alcoholism, and hemochromatosis)

70
Q

Liver disease

A

Alcoholic cirrhosis

71
Q

Primary liver disease

A

Hepatocellular carcinoma (chronic hepatitis, cirrhosis, hemochromatosis, alpha 1 antitrypsin deficiency, Wilson disease)

72
Q

Congenital conjugated hyperbilirubinemia (black liver)

A

Dubin-Johnson syndrome (inability of hepatocytes to secrete conjugated bilirubin into bile)

73
Q

Hereditary harmless jaundice

A

Gilbert syndrome (benign congenital unconjugated hyperbilirubinemia)

74
Q

Hemochromatosis

A

Multiple blood transfusions or hereditary HFE mutation (can result in heart failure, “bronze diabetes”, and increased risk of hepatocellular carcinoma)

75
Q

Pancreatitis (acute)

A

Gallstones, alcohol

76
Q

Pancreatitis (chronic)

A

alcohol (adults), CF (kids)

77
Q

Autospenectomy (fibrosis and shrinkage)

A

Sickle cell disease (hgb S)

78
Q

Microcytic anemia

A

Iron deficiency

79
Q

Bleeding disorder with GpIb deficiency

A

Bernard-Soulier syndrome (defect in platelet adhesion to von Willebrand factor)

80
Q

Hereditary bleeding disorder

A

von Willebrand disease

81
Q

DIC

A

Severe sepsis, obstetric complications, cancer, burns, trauma, major surgery, acute pancreatitis, APL

82
Q

Malignancy associated with noninfectious fever

A

Hodgkin lymphoma

83
Q

Type of Hodgkin lymphoma

A

Nodular sclerosing (vs mixed cellularity, lymphocytic predominance, lymphocytic depletion)

84
Q

t(14;18)

A

Follicular lymphomas (BCL-2 activation, anti-apoptotic oncogene)

85
Q

t(8;14)

A

Burkitt lymphoma (c-myc fusion, transcription factor oncogene)

86
Q

Type of non Hodgkin lymphoma

A

Diffuse large B-cell lymphoma

87
Q

Primary bone tumor (adults)

A

Multiple myeloma

88
Q

Age ranges for patient with ALL/CLL/AML/CML

A

ALL:child, CLL: adult>60, AML: adult-65, CML: adult 45-85

89
Q

Malignancy (kids)

A

Leukemia, brain tumors

90
Q

Death in CML

A

Blast crisis

91
Q

t (9;22)

A

Philadephia chromosome, CML (BCR-ABL oncogene, tyrosine kinase activation), more rarely associated with ALL

92
Q

Vertebral compression fracture

A

Osteoporosis (type 1: postmenopausal woman; type II: elderly man or woman)

93
Q

HLA- B27

A

Psoriatic arthritis, ankylosing spondylitis, IBD-associated arthritis, reactive arthritis (formerly Reiter syndrome)

94
Q

Death in SLE

A

Lupus nephropathy

95
Q

Tumor of infancy

A

Strawberry hemangioma (grows rapidly and regresses spontaneously by childhood)

96
Q

Actinic (solar) keratosis

A

Precursor to squamous cell carcinoma

97
Q

Cerebellar tonsillar herniation

A

Chiari I malformation

98
Q

Atrophy of the mamillary bodies

A

Wernicke encephalopathy (thiamine deficiency causing ataxia, ophthalmoplegia, and confusion)

99
Q

Viral encephalitis affecting temporal lobe

A

HSV-1

100
Q

Hematoma- epidural

A

Rupture of middle meningeal artery (trauma; lentiform shaped)

101
Q

hematoma- subdural

A

rupture of bridging veins (crescent shaped)

102
Q

Dementia

A

Alzheimer disease, multiple infarcts (vascular dementia)

103
Q

Demyelinating disease in young women

A

Multiple sclerosis

104
Q

Brain tumor (adults)

A

Supratentorial: metastasis, astrocytoma (including glioblastoma multiforme), meningioma, schwannoma

105
Q

Pituitary tumor

A

Prolactinoma, somatotropic adenoma

106
Q

Brain tumor (kids)

A

Infratentorial: medulloblastoma (cerebellum) or supratentorial: craniopharyngioma

107
Q

Mixed (UMN and LMN) motor neuron disease

A

Amyotrophic lateral sclerosis

108
Q

Primary hyperaldosteronism

A

Adrenal hyperplasia or adenoma

109
Q

Nephrotic syndrome (adults)

A

Membranous nephropathy

110
Q

Nephrotic syndrom (kids)

A

minimal change disease

111
Q

glomerulonephritis (adults)

A

Berger disease (IgA nephropathy)

112
Q

Kidney stones

A
  • Calium = radiopaque
  • Struvite (ammonium) = radiopaque (formed by urease + organisms such as Klebsiella, Proteus species, and S saprophyticus)
  • Uric acid = radiolucent
  • Cystine = faintly radiopaque
113
Q

Obstruction of male urinary tract

A

BPH

114
Q

Renal tumor

A

Renal cell carcinoma: associated with von Hippel- Linday and cigarette smoking; paraneoplastic syndromes (EPO, renin, PTHrP, ACTH)

115
Q

Primary amenorrhea

A

Turner syndrome (45 XO or 45 XO/ 46 XX mosaic)

116
Q

Neuron migration failure

A

Kallmann syndrome (hypogonadotopic hypogonadism and anosmia)

117
Q

Clear cell adenocarcinoma of the vagina

A

DES exposure in utero

118
Q

Ovarian tumor (benign, bilateral)

A

Serous cystadenoma

119
Q

Ovarian tumor (malignant)

A

Serous cystadenocarcinoma

120
Q

Tumor in women

A

Leiomyoma (estrogen dependent, not precancerous)

121
Q

Gynecologic malignancy

A

Endometrial carcinoma (most common in US); cervical carcinoma (most common worldwide)

122
Q

Breast mass

A

Fibrocystic change, carcinoma (in postmenopausal women)

123
Q

Breast tumor (benign, young woman)

A

Fibroadenoma

124
Q

Breast cancer

A

Invasive ductal carcinoma

125
Q

Testicular tumor

A

Seminoma (malignant, radiosensitive), increase placental ALP

126
Q

Right heart failure due to a pulmonary cause

A

Cor pulmonale

127
Q

Hypercoagulability, endothelial damage, blood stasis

A

Virchow triad (Increased risk of thrombosis)

128
Q

Pulmonary hypertension

A

Idiopathic, heritable, left heart disease (eg, HF), lung disease (eg COPD), hypoxemic vasoconstriction (eg, OSA), thromboembolic (eg, PE)

129
Q

SIADH

A

Small cell carcinoma of the lung

Biochem (9 decks)

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