Key Associations Flashcards

1
Q

Mitochondrial inheritance

A

Disease in both M and F, inherited thru F only

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2
Q

Intellectual disability

A

Down syndrome

Fragile X

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3
Q

Vitamin deficiency USA

A

Folate (pregnant women are at high risk, body stores only 3-4 mos supply, prevents NTD)

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4
Q

Lysosomal storage disease

A

Gaucher disease

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5
Q

Bacterial meningitis (adults and elderly)

A

S pneumoniae

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6
Q

Bacterial meningitis (newborns and peds)

A

GBS
E coli
Listeria monocytogenes (NEWBORN)

S pneumoniae/N meningiditis (kids/teens)

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7
Q

HLA DR3

A
DMT1
SLE
Graves
Hashimoto (also assoc with DR5)
Addison disease
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8
Q

HLA DR4

A

DMT1
RA
Addison disease

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9
Q

Bacteria assoc with gastritis, PUD, gastric malignancy (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

Heminth infection USA

A

Enterobious vermicularis

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12
Q

Viral encephalitis affecting temporal lobe

A

HSV 1

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13
Q

Infection secondary to blood trans

A

HCV

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14
Q

Food poisoning (endotoxin related)

A

S aureus

B cereus

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15
Q

Osteomyelitis MC overall

A

S aureus

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16
Q

Osteomyelitis in SCD

A

Salmonella

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17
Q

Osteomyelitis in IVDA

A

Pseudomonas
Candida
S aureus

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18
Q

UTI

A
E. coli
Staphylococcus saprophyticus (sexually active young F)
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19
Q

STI

A

C trachomatis (usually coinfected with N gonorrhea)

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20
Q

Nosocomial pneumonia

A

Staph aureus
Pseudomonas
Enteric GN rods

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21
Q

PID

A

C trichomatis

N gonorrhea

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22
Q

Infections in CGD

A
S aureus
E coli 
Aspergillus
Serratia
Nocardia
CATALASE + orgs- breakdown H2O2 and do not produce H2O2 for cell to steal 

NADPH oxidase deficiency- phagocytes cannot generate H2O2 for oxidative burst—> infections with catalase + orgs

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23
Q

Mets to bone

A

Prostate, breast > kidney, thyroid, lung

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24
Q

Mets to brain

A

Lung > breast > melanoma, colon, kidney

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25
Q

Mets to liver

A

Colon&raquo_space; stomach> pancreas

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26
Q

S3 heart sound

A

High ventricular filling pressure (mitral regurgitation, HF)

COMMON IN DILATED VENTRICLES

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27
Q

S4 heart sound

A

Stiff/hypertrophic ventricle (aortic stenosis, restrictive cardiomyopathy

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28
Q

Constrictive pericarditis

A

TB (developing world)

Idiopathic, viral illness (developed world)

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29
Q

Holosystolic murmur

A

VSD
Tricuspid regurgitation
Mitral regurgitation

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30
Q

Ejection click

A

Aortic stenosis

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31
Q

Mitral valve stenosis

A

Rheumatic heart disease

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32
Q

Opening snap

A

Mitral stenosis

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33
Q

Heart murmur, congenital

A

Mitral valve prolapse

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34
Q

Chronic arrhythmia

A

A fib (assoc w high risk of emboli)

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35
Q

Cyanosis (early, less common)

A
TOF
Transposition of great vessels 
Truncus arteriosus 
Total anomalous pulmonary venous return
Tricuspid atresia
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36
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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37
Q

Congenital cardiac anomaly

A

VSD

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38
Q

Secondary HTN

A

Renal artery stenosis
CKD (polycystic kidney dx, diabetic nephropathy)
Hyperaldosteronism

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39
Q

Aortic aneurysm, thoracic

A

Marfan syndrome (idiopathic cystic medial degeneration)

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40
Q

Aortic aneurysm, abdominal

A

Atherosclerosis

SMOKING MAJOR RISK FACTOR

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41
Q

Aortic aneurysm, ascending or arch

A
Tertiary syphilis (syphilitic aortitis)
Vasa vasorum destruction
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42
Q

Sites of atherosclerosis

A

Abdominal aorta > coronary artery > popliteal artery > carotid artery

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43
Q

Aortic dissection

A

HTN

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44
Q

RHF dt pulmonary cause

A

Cor pumonale

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45
Q

Heart valve in bacterial endocarditis

A

Mitral > aortic (rheumatic fever), tricuspid (IVDA)

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46
Q

Endocarditis presentation assoc with bacterium

A
S aureus (acute, IVDA, tricuspid)
Viridans streptococci (subacute, dental procedure)
S bovis (colon cancer)

Culture negative (Coxiella, Bartonella, HACEK)

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47
Q

Temporal arteritis

A

Risk of ipsilateral blindness dt occlusion of ophthalmic artery
Polymyalgia rheumatica

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48
Q

Buerger disease (strongly associated with TOBACCO)

A

Recurrent inflammation/thrombosis of small/medium vessels on extremities

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49
Q

Cardiac primary tumor is kids

A

Rhabdomyosarcoma

OFTEN SEEN IN TUBEROUS SCLEROSIS

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50
Q

Cardiac tumor (adults)

A

Metastasis

Myxoma (90% in LA, ball valve)

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51
Q

Congenital adrenal hyperplasia , hypotension

A

21 hydroxylase deficiency

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52
Q

Cushing syndrome

A

Iatrogenic (corticosteroid use)
Adrenocortical adenoma (secretes excess cortisol)
ACTH secreting pituitary adenoma (Cushing disease)
Paraneoplastic (dt ACTH secretion by tumors)

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53
Q

Primary hyperaldosteronism

A

Adrenal hyperplasia or adenoma

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54
Q

Tumor of adrenal medulla in KIDS

A

Neuroblastoma (malignant)

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55
Q

Tumor of adrenal medulla in ADULTS

A

Pheochromocytoma (usually benign)

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56
Q

Cretinism

A

Iodine deficiency/Congenital hypothyroidism

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57
Q

Thyroid cancer

A

Papillary carcinoma (childhood IRRADIATION)

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58
Q

Hypoparathyroidism

A

Accidental excision during thyroidectomy

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59
Q

Primary hyperparathyroidism

A

Adenomas, hyperplasia, carcinoma

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60
Q

Secondary hyperparathyroidism

A

Hypocalcemia of CKD

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61
Q

Hypopituitarism

A

Pituitary adenoma (usually benign)

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62
Q

Refractory peptic ulcers and high gastrin

A

Zollinger Ellison syndrome (gastronomy of duodenum or pancreas)
ASSOC WITH MEN1

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63
Q

Esophageal cancer

A

Squamous cell carcinoma (worldwide)

Adenocarcinoma (USA)

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64
Q

Acute gastric ulcer assoc with CNS injury

A

Cushing ulcer - high intracranial pressure stimulates vagal gastric H+ secretion

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65
Q

Acute gastric ulcer assoc with severe burns

A

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

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66
Q

Krukenberg tumor (mucin secreting signet cells)

A

Bl ovarian mets from gastric carcinoma

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67
Q

Chronic atrophic gastritis (autoimmune)

A

Predisposition to gastric carcinoma (can also cause pernicious anemia)

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68
Q

Gastric cancer

A

Adenocarcinoma

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69
Q

Skip lesions (Crohn disease)

A

Alternating areas of TRANSMURAL inflammation and normal colon

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70
Q

Site of diverticula

A

Sigmoid colon

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71
Q

Zenker diverticulum (dx by barium swallow)

A

Diverticulum in pharynx (false diverticulum)

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72
Q

HCC

A

Cirrhotic liver (assoc with HBV, HCV, alcoholism, hemochromatosis)

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73
Q

Liver disease

A

Alcoholic cirrhosis

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74
Q

Primary liver cancer

A

HCC (chronic hepatitis, cirrhosis, hemochromatosis, alpha 1 antitrypsin, Wilson disease)

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75
Q

Congenital conjugated hyperbilirubinemia (black liver)

A

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

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76
Q

Hereditary harmless jaundice

A

Gilbert syndrome (benign congenital unconjugated hyperbilirubinemia)

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77
Q

Hemochromatosis

A
Multiple blood transfusions or hereditary HFE mutation (can result in heart failure, “bronze diabetes” and high risk for HCC)
Triad:
1. Cirrhosis
2. DM
3. Skin pigmentation
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78
Q

Acute pancreatitis

A

Gallstones

Alcohol

79
Q

Chronic pancreatitis

A

Alcohol (adults)

CF (kids)

80
Q

Iron deficiency

A

Microcytic anemia

81
Q

Autosplenectomy (shrinkage and fibrosis)

A

SCD (Hb S)

82
Q

Bleeding disorder with GpIb deficiency

A

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

83
Q

Hereditary bleeding disorder

A

Von willebrand disease

84
Q

DIC

A

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

85
Q

Malignancy associated with non infectious fever

A

Hodgkin lymphoma

86
Q

Type of Hodgkin lymphoma

A

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

87
Q

t(14;18)

A

Follicular lymphomas (Bcl2 activation, anti apoptotic oncogene)

88
Q

t(8;14)

A

Burkitt lymphoma (c myc fusion, transcription factor oncogene)

89
Q

Type of non Hodgkin lymphoma

A

Diffuse large B cell

90
Q

Primary bone tumor (adults)

A

Multiple myeloma

91
Q

Age ranges for patient with:

  1. ALL
  2. CLL
  3. AML
  4. CML
A
  1. ALL- child
  2. CLL > 60yo
  3. AML 65yo
  4. CML 45-85
92
Q

Malignancy (kids)

A

Leukemia, brain tumors

93
Q

Death in CML

A

Blast crisis

94
Q

t(9;22)

A

Philadelphia chromosome, CML (BCR-ABL oncogene, tyrosine kinase activation)
Rarely assoc with ALL

95
Q

Vertebral compression fracture

A

Osteoporosis (type I post menopausal F, type II elderly man or woman)

96
Q

HLA B27

A

Ankylosing spondylitis, psoriatic arthritis, IBD assoc arthritis, reactive arthritis (fmrly Reiter syndrome)

97
Q

Death in SLE

A

Lupus nephropathy

98
Q

Tumor in infancy

A

Strawberry hemangioma (grows rapidly and regresses spontaneously by childhood)

99
Q

Actinic (solar) keratosis

A

Precursor to squamous cell carcinoma

100
Q

Cerebellar tonsillar herniation

A

Chiari I malformation

101
Q

Atrophy of mammillary bodies

A

Wernicke encephalopathy (B1 deficiency causing ataxia, ophthalmoplegia, and confusion)

102
Q

Epidural hematoma

A

Rupture of middle meningeal artery (trauma; lentiform shaped)

103
Q

Subdural hematoma

A

Rupture of bridging veins (crescent shaped)

104
Q

Dementia

A

Alzheimer’s disease, multiple infarcts (vascular dementia)

105
Q

Demyelinating disease in young women

A

Multiple sclerosis

106
Q

Brain tumor (adults)

A

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

107
Q

Pituitary tumor

A

Prolactinoma

Somatotropic adenoma

108
Q

Brian tumor (kids)

A

Infratentorial: medullablastoma (cerebellum) OR supratentorial (craniopharyngioma)

109
Q

Mixed (UMN and LMN) motor neuron disease

A

Amyotrophic lateral sclerosis

110
Q

Nephrotic syndrome (adults)

A

Membranous nephropathy

111
Q

Nephrotic syndrome (kids)

A

Minimal change disease

112
Q

Glomerulonephritis (adults)

A

Berger disease (IgA nephropathy)

113
Q

Kidney stones

A

Calcium- radio opaque

Struvite- ammonium, radio opaque, stag horn, formed by urease + orgs (klebsiella, proteus, s saprophyticus)

Uric acid- radiolucent

Cystine- faintly radio opaque

114
Q

Renal tumor

A

Renal cell carcinoma: assoc with von Hippel Landau and cigarette smoking

Paraneoplastic syndromes- EPO, renin, PTHrP, ACTH

115
Q

Obstruction of male urinary tract today

A

BPH

116
Q

Primary amenorrhea

A

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

117
Q

Neuron migration failure

A

Kallman syndrome (hypogonadotropic hypodonadism and anosmia)

118
Q

Clear cell carcinoma of vagina

A

DES exposure in utero

119
Q

Ovarian tumor (benign, bl)

A

Serous cystadenoma

120
Q

Ovarian tumor (malignant)

A

Serous cystadenocarcinoma

121
Q

Tumor in women

A

Leiomyoma (estrogen dependent, not precancerous)

122
Q

Gynecologic malignancy

A

Endometrial carcinoma (MC US), cervical carcinoma (MC WORLDWIDE)

123
Q

Breast mass

A

Fibrocystic change, carcinoma (in postmenopausal women)

124
Q

Breast tumor (benign, young woman)

A

Fibroadenoma

125
Q

Breast cancer

A

Invasive ductal carcinoma

126
Q

Testicular tumor

A

Seminoma (malignant, radiosensitive), high placental ALP

127
Q

Pulmonary HTN

A

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

128
Q

Hypercoagulobitity, endothelial damage, blood stasis

A

Virchow triad (high risk of thrombosis)

129
Q

SIADH

A

Small cell carcinoma of lung

130
Q

B7 (3 enzymes)

A

Cofactor for CARBOXYLATION enzymes, adds 1C
1. Pyruvate carboxylase - pyruvate 3C to OAA 4C
(gluconeogenesis)

  1. acetyl coA carboxylase- acetyl coA 2C to malonyl coA 3C (FA synthesis)
  2. Propionyl coA carboxylase- propionyl coA 3C to methyl malonyl coA 4C (FA oxidation)

ABC enzymes:

  1. ATP
  2. Biotin
  3. CO2

Avidin binds B7

131
Q

Encapsulated bacteria Please SHiNE my SKiS

A

Pseudomonas aeroginosa

Streptococcus pneumoniae
Haemophilus influenza type b
Neisseria meningiditis
Escherichia coli

Salmonella
Klebsiella pneumonia
group B Strep (strep agalactiae)

132
Q

Granulmomatous infections (8)

A
  1. M Tb
  2. M leprosy
  3. Fungal PNA (histo, blasto, coccidio)
  4. Bartonella (cat scratch)
  5. Brucellosis
  6. Listeria (granulomatosis infantseptica)
  7. Schistosomiasis (worm)
  8. Syphilis (T pallidum, GUMMA formation)
133
Q

P450 inducers (6)

A
Chronic EtOH
Rifampin
Phenobarbital
Carbamazepine 
Griseofulvin
Phenytoin
134
Q

P450 Inhibitors (6)

A
INH
Erythromycin 
Cimetidine
A plea
Grapefruit juice
Ritonavir (HIV)
135
Q

P450 inducers (6)

A
Chronic EtOH
Rifampin
Phenobarbital
Carbamazepine 
Griseofulvin
Phenytoin
136
Q

P450 Inhibitors (6)

A
INH
Erythromycin 
Cimetidine
A plea
Grapefruit juice
Ritonavir (HIV)
137
Q

P450 inducers (6)

A
Chronic EtOH
Rifampin
Phenobarbital
Carbamazepine 
Griseofulvin
Phenytoin
138
Q

P450 Inhibitors (6)

A
INH
Erythromycin 
Cimetidine
A plea
Grapefruit juice
Ritonavir (HIV)
139
Q

P450 inducers (6)

A
Chronic EtOH
Rifampin
Phenobarbital
Carbamazepine 
Griseofulvin
Phenytoin
140
Q

P450 Inhibitors (6)

A
INH
Erythromycin 
Cimetidine
A plea
Grapefruit juice
Ritonavir (HIV)
141
Q

X Linked recessive dx (10)

Oblivious Female Will Often Giver Her Boys Her xLinked Disorders

A
OTC deficiency 
Dandy dx
Wiskott Aldrich
Ocular albinism
G6PD
Hunter syndrome 
Bruton agammaglobulinemia
Hemophilia A and B
Lesch Nyhan
Duchenne and Becker MD
142
Q

Phase 1

A

Small number of healthy volunteers

Safety, toxicity, pharmacokinetics

143
Q

Phase 2

A

Small number of sick patients
Efficacy, dosing, side effect
Often placebo controlled, blinded

144
Q

Phase 3

A

Large number of sick patients
Randomized trials
How effective drug is compared to placebo/standard of care

After phase 3, drug may be FDA approved

145
Q

Phase 4

A

Post marketing study
After drug is on market and being used
Monitor for long term effects
Sometimes test in different group of patients

146
Q

RUSB murmur

A

aortic stenosis has

147
Q

Left sternal border IC 3

A

Aortic regurgitation

HCM

148
Q

Left upper sternal border

A

Pulmonic murmurs

PDA

149
Q

Apex

A

Mitral murmurs

150
Q

Left lower sternal border

A

Tricuspid murmurs

VSD

151
Q

Mitral stenosis

A

No left sided s3 or s4 (assoc with fast filling of ventricle)

Time to opening snap assoc with severity- short time to opening snap= SEVERE DX

152
Q

3 causes of holosystolic murmurs

A

MR
TR
VSD

153
Q

Metolazone

A

Thiazides like diuretic

Inhibits Na Cl in distal nephron

Gives loops diuretics a kick

Vigorous diuresis

Side effect- K and fluid loss

154
Q

Nitrates

A

Venous dilation

Lowers preload (EDV) and LA pressure

Less pulmonary edema

SE- HA flushing hypotension

155
Q

Hydralazine

A

Increases cGMP - smooth muscle relaxation

Vasodilates arterioles>veins

156
Q

Adrenal fasciculata

A

Produces aldosterone

157
Q

Adrenal cortex

A

Mesoderm

158
Q

Adrenal medulla

A

Neural crest cells

159
Q

Cortisol and BP

A

Maintains BLOOD PRESSURE

Increases alpha1 receptors in arterioles, more sensitive to NE, epi

High cortisol- HTN (Cushing)
Low cortisol- hypotension (adrenal insufficiency)

160
Q

X linked agammaglobulinemia

A

BTK mutation- detective Bruton tyrosine kinase

Impaired B cell maturation and Ig production

Pts have low circulating B cells and low igs

Increased risk for sinopulmonary infections by encapsulated bacteria

161
Q

LH stimulates

A

Release of testosterone from Leydig cells of testes

162
Q

FSH stimulates

A

Release of inhibit B from Sertoli cells in seminiferous tubules

163
Q

Testosterone and inhibin b feedback

A

Negative feedback on LH and FSH production

164
Q

RAS/MAP kinase path

A

Insulin receptor can activate RAS

RAS activates growth paths- Raf, MEK, MAP

Modify cell growth and gene expression

165
Q

Weight gain and insulin therapy

A

Insulin promotes:

  1. Fatty acid synthesis- activates acetyl coA carboxylase, inhibits hormone sensitive lipase
  2. Protein synthesis
166
Q

Hormone sensitive lipase

A

Removes FAs from TAGs in adipocytes

Inhibited by insulin

Activates by glucagon and epi

167
Q

Insulin and K

A

Insulin lowers K by increasing activity of NaK ATPase pump in sk muscle

Insulin + glucose used in treatment of hyperkalemia

168
Q

Glucagon receptor

A

GPCR

Activates adenylyl cyclase

Increases cAMP

Activates protein kinase A

169
Q

Insulinoma dx

A

1 fasting insulin level

2 c peptide level

3 proinsulin

MUST EXCLUDE EXOGENOUS INSULIN ADMIN

170
Q

Sulfonylurea overdose

A

High insulin
High c peptide
High hypoglycemic agent screen

171
Q

Glucagonoma

A

Rare pancreatic tumor

Excess glucagon secretion

Leads to glucose intolerance

  • elevated fasting glucose levels
  • rare to develop DKA bc insulin function intact
172
Q

Glucagonoma s/s

A

Weight loss

NECROLYTIC MIGRATORY ERYTHEMA

  • red blistery rash, itchy, painful
  • genital, buttocks, groin

NEW DIABETES AND RASH

173
Q

Glucagonoma tx

A

Somatostatin analog- octreotide

- inhibits glucagon secretion abd improves symptoms

174
Q

T1DM

A

Autoimmune disorder

TYPE IV HSR

  • cell mediated destruction of beta cells
  • LYMPHOCYTES ON BX
  • decreased number of beta cells-> loss of insulin

Assoc with HLADR3/4

Autoabs may be present

  • islet cell abs
  • insulin abs
175
Q

DKA tx

A

Insulin- lowers blood glucose, shifts potassium into cells

MUST MONITOR K

  • total body K low despite hyperkalemia
  • insulin shifts into cells-> leads to hypokalemia
  • usually admin K

IVF
- treats dehydration

176
Q

T2DM

A

Insulin resistance
- muscle, adipose tissue, liver

Reduced response to insulin-> hyperglycemia

Pancreas responds with HIGH insulin

Eventually pancreas fails-> low insulin

177
Q

T2DM histology finishing

A

AMYLOID in pancreatic islets

Amylin peptide made by beta cells normally
- accumulates in islets in patients with T2DM

178
Q

Hyperglycemic hyperosmolar syndrome HHS different than DKA

A

Few or no ketones present- insulin present

Very high glucose - >1000

Usually no acidosis

VERY HIGH SERUM OSMOLARITY- CNS dysfunction

179
Q

Diabetes complications mechanisms

A
  1. Nonenzymatic glycation

2. Sorbitol accumulation.

180
Q

DM kidney disease

A

Hyaline arteriosclerosis- thickening of arterioles

Can result from AGEs- crosslinking of collagen

Can involve afferent and efferent arterioles

  • afferent- ischemia
  • efferent - hyperfiltration

EFFERENT ARTERIOSCLEROSIS RARELY SEEN EXCELT IN DIABETICS

181
Q

Kimmelstiel Wilson nodules

A

Hallmark of nodular sclerosis in DM

Pathognomonic for DM kidney dx

182
Q

Rapid acting insulin

Lispro, aspartame’s, glulisine

A

Insulin with modified amino acids

REDUCED HEXAMER/ POLYMER FORMATION

Rapid absorption, faster action, shorter duration

USE PRE MEAL

183
Q

Regular insulin

A

IV

Used inpatients

Given for DKA/HHS

USED TO TREAT HYPERKALEMIA
- give IV w glucose to prevent hypoglycemia

184
Q

Brown pigment stones

A

Arise secondary to bacterial or helminthic infection of biliary tract - results in release of beta glucuronidase by injured hepatocytes and bacteria

Liver fluke- common cause of pigmented stones in east asia

Composed of calcium and unconjugated bilirubin

185
Q

DPP4 inhibitors (-gliptin)

A
Inhibits degradation of GLP1
GLP1:
- slows gastric emptying
- suppresses glucagon secretion 
- increases glucose dept insulin release
186
Q

Statin associated myopathy

A

Can be severe with high creatine kinase levels and rhabdomyolysis

Risk of severe myopathy increased when statins given with fibrates

187
Q

GNRH second messenger system

A

Gq system with IP3 second messenger

PIP2 conv to IP3-> stimulates release of Ca atoms from ER. DAG and Ca can activate PKC and phosphorylate substrates

188
Q

Leuprolide

A

GNRH Agonist and antagonist

Initial binding-> stimulates FSH/LH binding

Chronic treatment- lowered LH/FSH

  • down regulation of GnRH receptor
  • pituitary desensitization
189
Q

Kallman syndrome

A

Ambience of GnRH from hypothalamus

Impaired migration of GnRH neurons from origin in olfactory bulb

Hypogonadism abd ANOSMIA

Low GnRH/FSH/LH/testosterone

Delayed puberty, small testes

190
Q

LH stimulates

A

Leydig cells, synth testosterone

191
Q

FSH stimulates

A

Sertoli cells, spermatogenesis

192
Q

Dihydrotestosterone (DHT)

A

Testosterone converted to DHT in peripheral tissues by 5ALPHA REDUCTASE

DHT high potency

193
Q

Finasteride

A

5 alpha reductase inhibitor

Used to treat BPH and male hair loss

194
Q

Estradiol

A

Testosterone can convert to estradiol via AROMATASE

Occurs in ADIPOSE TISSUE and Leydig cells