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Key Associations Flashcards

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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
Mets to liver
Colon >> stomach> pancreas
26
S3 heart sound
High ventricular filling pressure (mitral regurgitation, HF) | COMMON IN DILATED VENTRICLES
27
S4 heart sound
Stiff/hypertrophic ventricle (aortic stenosis, restrictive cardiomyopathy
28
Constrictive pericarditis
TB (developing world) | Idiopathic, viral illness (developed world)
29
Holosystolic murmur
VSD Tricuspid regurgitation Mitral regurgitation
30
Ejection click
Aortic stenosis
31
Mitral valve stenosis
Rheumatic heart disease
32
Opening snap
Mitral stenosis
33
Heart murmur, congenital
Mitral valve prolapse
34
Chronic arrhythmia
A fib (assoc w high risk of emboli)
35
Cyanosis (early, less common)
``` TOF Transposition of great vessels Truncus arteriosus Total anomalous pulmonary venous return Tricuspid atresia ```
36
Late cyanotic shunt (uncorrected left to right becomes right to left)
Eisenmenger syndrome (caused by ASD, VSD, PDA: results in pulmonary hypertension/polycythemia)
37
Congenital cardiac anomaly
VSD
38
Secondary HTN
Renal artery stenosis CKD (polycystic kidney dx, diabetic nephropathy) Hyperaldosteronism
39
Aortic aneurysm, thoracic
Marfan syndrome (idiopathic cystic medial degeneration)
40
Aortic aneurysm, abdominal
Atherosclerosis | SMOKING MAJOR RISK FACTOR
41
Aortic aneurysm, ascending or arch
``` Tertiary syphilis (syphilitic aortitis) Vasa vasorum destruction ```
42
Sites of atherosclerosis
Abdominal aorta > coronary artery > popliteal artery > carotid artery
43
Aortic dissection
HTN
44
RHF dt pulmonary cause
Cor pumonale
45
Heart valve in bacterial endocarditis
Mitral > aortic (rheumatic fever), tricuspid (IVDA)
46
Endocarditis presentation assoc with bacterium
``` S aureus (acute, IVDA, tricuspid) Viridans streptococci (subacute, dental procedure) S bovis (colon cancer) ``` Culture negative (Coxiella, Bartonella, HACEK)
47
Temporal arteritis
Risk of ipsilateral blindness dt occlusion of ophthalmic artery Polymyalgia rheumatica
48
Buerger disease (strongly associated with TOBACCO)
Recurrent inflammation/thrombosis of small/medium vessels on extremities
49
Cardiac primary tumor is kids
Rhabdomyosarcoma | OFTEN SEEN IN TUBEROUS SCLEROSIS
50
Cardiac tumor (adults)
Metastasis | Myxoma (90% in LA, ball valve)
51
Congenital adrenal hyperplasia , hypotension
21 hydroxylase deficiency
52
Cushing syndrome
Iatrogenic (corticosteroid use) Adrenocortical adenoma (secretes excess cortisol) ACTH secreting pituitary adenoma (Cushing disease) Paraneoplastic (dt ACTH secretion by tumors)
53
Primary hyperaldosteronism
Adrenal hyperplasia or adenoma
54
Tumor of adrenal medulla in KIDS
Neuroblastoma (malignant)
55
Tumor of adrenal medulla in ADULTS
Pheochromocytoma (usually benign)
56
Cretinism
Iodine deficiency/Congenital hypothyroidism
57
Thyroid cancer
Papillary carcinoma (childhood IRRADIATION)
58
Hypoparathyroidism
Accidental excision during thyroidectomy
59
Primary hyperparathyroidism
Adenomas, hyperplasia, carcinoma
60
Secondary hyperparathyroidism
Hypocalcemia of CKD
61
Hypopituitarism
Pituitary adenoma (usually benign)
62
Refractory peptic ulcers and high gastrin
Zollinger Ellison syndrome (gastronomy of duodenum or pancreas) ASSOC WITH MEN1
63
Esophageal cancer
Squamous cell carcinoma (worldwide) | Adenocarcinoma (USA)
64
Acute gastric ulcer assoc with CNS injury
Cushing ulcer - high intracranial pressure stimulates vagal gastric H+ secretion
65
Acute gastric ulcer assoc with severe burns
Curling ulcer (greatly reduced plasma volume results in sloughing of gastric mucosa)
66
Krukenberg tumor (mucin secreting signet cells)
Bl ovarian mets from gastric carcinoma
67
Chronic atrophic gastritis (autoimmune)
Predisposition to gastric carcinoma (can also cause pernicious anemia)
68
Gastric cancer
Adenocarcinoma
69
Skip lesions (Crohn disease)
Alternating areas of TRANSMURAL inflammation and normal colon
70
Site of diverticula
Sigmoid colon
71
Zenker diverticulum (dx by barium swallow)
Diverticulum in pharynx (false diverticulum)
72
HCC
Cirrhotic liver (assoc with HBV, HCV, alcoholism, hemochromatosis)
73
Liver disease
Alcoholic cirrhosis
74
Primary liver cancer
HCC (chronic hepatitis, cirrhosis, hemochromatosis, alpha 1 antitrypsin, Wilson disease)
75
Congenital conjugated hyperbilirubinemia (black liver)
Dubin Johnson syndrome (inability of hepatocytes to secrete conjugated bilirubin into bile)
76
Hereditary harmless jaundice
Gilbert syndrome (benign congenital unconjugated hyperbilirubinemia)
77
Hemochromatosis
``` 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 ```
78
Acute pancreatitis
Gallstones Alcohol
79
Chronic pancreatitis
Alcohol (adults) CF (kids)
80
Iron deficiency
Microcytic anemia
81
Autosplenectomy (shrinkage and fibrosis)
SCD (Hb S)
82
Bleeding disorder with GpIb deficiency
Bernard Soulier syndrome (defect in platelet adhesion to von Willebrand factor) I
83
Hereditary bleeding disorder
Von willebrand disease
84
DIC
Severe sepsis, obstetric complications, cancer, burns, trauma, major surgery, acute pancreatitis, APL
85
Malignancy associated with non infectious fever
Hodgkin lymphoma
86
Type of Hodgkin lymphoma
Nodular sclerosis (vs mixed cellularity, lymphocytic predominance, lymphocytic depletion)
87
t(14;18)
Follicular lymphomas (Bcl2 activation, anti apoptotic oncogene)
88
t(8;14)
Burkitt lymphoma (c myc fusion, transcription factor oncogene)
89
Type of non Hodgkin lymphoma
Diffuse large B cell
90
Primary bone tumor (adults)
Multiple myeloma
91
Age ranges for patient with: 1. ALL 2. CLL 3. AML 4. CML
1. ALL- child 2. CLL > 60yo 3. AML 65yo 4. CML 45-85
92
Malignancy (kids)
Leukemia, brain tumors
93
Death in CML
Blast crisis
94
t(9;22)
Philadelphia chromosome, CML (BCR-ABL oncogene, tyrosine kinase activation) Rarely assoc with ALL
95
Vertebral compression fracture
Osteoporosis (type I post menopausal F, type II elderly man or woman)
96
HLA B27
Ankylosing spondylitis, psoriatic arthritis, IBD assoc arthritis, reactive arthritis (fmrly Reiter syndrome)
97
Death in SLE
Lupus nephropathy
98
Tumor in infancy
Strawberry hemangioma (grows rapidly and regresses spontaneously by childhood)
99
Actinic (solar) keratosis
Precursor to squamous cell carcinoma
100
Cerebellar tonsillar herniation
Chiari I malformation
101
Atrophy of mammillary bodies
Wernicke encephalopathy (B1 deficiency causing ataxia, ophthalmoplegia, and confusion)
102
Epidural hematoma
Rupture of middle meningeal artery (trauma; lentiform shaped)
103
Subdural hematoma
Rupture of bridging veins (crescent shaped)
104
Dementia
Alzheimer’s disease, multiple infarcts (vascular dementia)
105
Demyelinating disease in young women
Multiple sclerosis
106
Brain tumor (adults)
Supratentorial: Mets, astrocytoma (including glioblastoma multiforme), meningioma, schwannoma
107
Pituitary tumor
Prolactinoma | Somatotropic adenoma
108
Brian tumor (kids)
Infratentorial: medullablastoma (cerebellum) OR supratentorial (craniopharyngioma)
109
Mixed (UMN and LMN) motor neuron disease
Amyotrophic lateral sclerosis
110
Nephrotic syndrome (adults)
Membranous nephropathy
111
Nephrotic syndrome (kids)
Minimal change disease
112
Glomerulonephritis (adults)
Berger disease (IgA nephropathy)
113
Kidney stones
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
Renal tumor
Renal cell carcinoma: assoc with von Hippel Landau and cigarette smoking Paraneoplastic syndromes- EPO, renin, PTHrP, ACTH
115
Obstruction of male urinary tract today
BPH
116
Primary amenorrhea
Turner syndrome (45XO or 45XO/46XX mosaic)
117
Neuron migration failure
Kallman syndrome (hypogonadotropic hypodonadism and anosmia)
118
Clear cell carcinoma of vagina
DES exposure in utero
119
Ovarian tumor (benign, bl)
Serous cystadenoma
120
Ovarian tumor (malignant)
Serous cystadenocarcinoma
121
Tumor in women
Leiomyoma (estrogen dependent, not precancerous)
122
Gynecologic malignancy
Endometrial carcinoma (MC US), cervical carcinoma (MC WORLDWIDE)
123
Breast mass
Fibrocystic change, carcinoma (in postmenopausal women)
124
Breast tumor (benign, young woman)
Fibroadenoma
125
Breast cancer
Invasive ductal carcinoma
126
Testicular tumor
Seminoma (malignant, radiosensitive), high placental ALP
127
Pulmonary HTN
Idiopathic, heritable, left heart disease (HF), lung disease (COPD), hypoxemic vasoconstriction (OSA), thromboembolic (PE)
128
Hypercoagulobitity, endothelial damage, blood stasis
Virchow triad (high risk of thrombosis)
129
SIADH
Small cell carcinoma of lung
130
B7 (3 enzymes)
Cofactor for CARBOXYLATION enzymes, adds 1C 1. Pyruvate carboxylase - pyruvate 3C to OAA 4C (gluconeogenesis) 2. acetyl coA carboxylase- acetyl coA 2C to malonyl coA 3C (FA synthesis) 3. 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
Encapsulated bacteria Please SHiNE my SKiS
Pseudomonas aeroginosa Streptococcus pneumoniae Haemophilus influenza type b Neisseria meningiditis Escherichia coli Salmonella Klebsiella pneumonia group B Strep (strep agalactiae)
132
Granulmomatous infections (8)
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
P450 inducers (6)
``` Chronic EtOH Rifampin Phenobarbital Carbamazepine Griseofulvin Phenytoin ```
134
P450 Inhibitors (6)
``` INH Erythromycin Cimetidine A plea Grapefruit juice Ritonavir (HIV) ```
135
P450 inducers (6)
``` Chronic EtOH Rifampin Phenobarbital Carbamazepine Griseofulvin Phenytoin ```
136
P450 Inhibitors (6)
``` INH Erythromycin Cimetidine A plea Grapefruit juice Ritonavir (HIV) ```
137
P450 inducers (6)
``` Chronic EtOH Rifampin Phenobarbital Carbamazepine Griseofulvin Phenytoin ```
138
P450 Inhibitors (6)
``` INH Erythromycin Cimetidine A plea Grapefruit juice Ritonavir (HIV) ```
139
P450 inducers (6)
``` Chronic EtOH Rifampin Phenobarbital Carbamazepine Griseofulvin Phenytoin ```
140
P450 Inhibitors (6)
``` INH Erythromycin Cimetidine A plea Grapefruit juice Ritonavir (HIV) ```
141
X Linked recessive dx (10) | Oblivious Female Will Often Giver Her Boys Her xLinked Disorders
``` OTC deficiency Dandy dx Wiskott Aldrich Ocular albinism G6PD Hunter syndrome Bruton agammaglobulinemia Hemophilia A and B Lesch Nyhan Duchenne and Becker MD ```
142
Phase 1
Small number of healthy volunteers Safety, toxicity, pharmacokinetics
143
Phase 2
Small number of sick patients Efficacy, dosing, side effect Often placebo controlled, blinded
144
Phase 3
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
Phase 4
Post marketing study After drug is on market and being used Monitor for long term effects Sometimes test in different group of patients
146
RUSB murmur
aortic stenosis has
147
Left sternal border IC 3
Aortic regurgitation | HCM
148
Left upper sternal border
Pulmonic murmurs | PDA
149
Apex
Mitral murmurs
150
Left lower sternal border
Tricuspid murmurs | VSD
151
Mitral stenosis
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
3 causes of holosystolic murmurs
MR TR VSD
153
Metolazone
Thiazides like diuretic Inhibits Na Cl in distal nephron Gives loops diuretics a kick Vigorous diuresis Side effect- K and fluid loss
154
Nitrates
Venous dilation Lowers preload (EDV) and LA pressure Less pulmonary edema SE- HA flushing hypotension
155
Hydralazine
Increases cGMP - smooth muscle relaxation Vasodilates arterioles>veins
156
Adrenal fasciculata
Produces aldosterone
157
Adrenal cortex
Mesoderm
158
Adrenal medulla
Neural crest cells
159
Cortisol and BP
Maintains BLOOD PRESSURE Increases alpha1 receptors in arterioles, more sensitive to NE, epi High cortisol- HTN (Cushing) Low cortisol- hypotension (adrenal insufficiency)
160
X linked agammaglobulinemia
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
LH stimulates
Release of testosterone from Leydig cells of testes
162
FSH stimulates
Release of inhibit B from Sertoli cells in seminiferous tubules
163
Testosterone and inhibin b feedback
Negative feedback on LH and FSH production
164
RAS/MAP kinase path
Insulin receptor can activate RAS RAS activates growth paths- Raf, MEK, MAP Modify cell growth and gene expression
165
Weight gain and insulin therapy
Insulin promotes: 1. Fatty acid synthesis- activates acetyl coA carboxylase, inhibits hormone sensitive lipase 2. Protein synthesis
166
Hormone sensitive lipase
Removes FAs from TAGs in adipocytes Inhibited by insulin Activates by glucagon and epi
167
Insulin and K
Insulin lowers K by increasing activity of NaK ATPase pump in sk muscle Insulin + glucose used in treatment of hyperkalemia
168
Glucagon receptor
GPCR Activates adenylyl cyclase Increases cAMP Activates protein kinase A
169
Insulinoma dx
1 fasting insulin level 2 c peptide level 3 proinsulin MUST EXCLUDE EXOGENOUS INSULIN ADMIN
170
Sulfonylurea overdose
High insulin High c peptide High hypoglycemic agent screen
171
Glucagonoma
Rare pancreatic tumor Excess glucagon secretion Leads to glucose intolerance - elevated fasting glucose levels - rare to develop DKA bc insulin function intact
172
Glucagonoma s/s
Weight loss NECROLYTIC MIGRATORY ERYTHEMA - red blistery rash, itchy, painful - genital, buttocks, groin NEW DIABETES AND RASH
173
Glucagonoma tx
Somatostatin analog- octreotide | - inhibits glucagon secretion abd improves symptoms
174
T1DM
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
DKA tx
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
T2DM
Insulin resistance - muscle, adipose tissue, liver Reduced response to insulin-> hyperglycemia Pancreas responds with HIGH insulin Eventually pancreas fails-> low insulin
177
T2DM histology finishing
AMYLOID in pancreatic islets Amylin peptide made by beta cells normally - accumulates in islets in patients with T2DM
178
Hyperglycemic hyperosmolar syndrome HHS different than DKA
Few or no ketones present- insulin present Very high glucose - >1000 Usually no acidosis VERY HIGH SERUM OSMOLARITY- CNS dysfunction
179
Diabetes complications mechanisms
1. Nonenzymatic glycation | 2. Sorbitol accumulation.
180
DM kidney disease
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
Kimmelstiel Wilson nodules
Hallmark of nodular sclerosis in DM Pathognomonic for DM kidney dx
182
Rapid acting insulin | Lispro, aspartame’s, glulisine
Insulin with modified amino acids REDUCED HEXAMER/ POLYMER FORMATION Rapid absorption, faster action, shorter duration USE PRE MEAL
183
Regular insulin
IV Used inpatients Given for DKA/HHS USED TO TREAT HYPERKALEMIA - give IV w glucose to prevent hypoglycemia
184
Brown pigment stones
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
DPP4 inhibitors (-gliptin)
``` Inhibits degradation of GLP1 GLP1: - slows gastric emptying - suppresses glucagon secretion - increases glucose dept insulin release ```
186
Statin associated myopathy
Can be severe with high creatine kinase levels and rhabdomyolysis Risk of severe myopathy increased when statins given with fibrates
187
GNRH second messenger system
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
Leuprolide
GNRH Agonist and antagonist Initial binding-> stimulates FSH/LH binding Chronic treatment- lowered LH/FSH - down regulation of GnRH receptor - pituitary desensitization
189
Kallman syndrome
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
LH stimulates
Leydig cells, synth testosterone
191
FSH stimulates
Sertoli cells, spermatogenesis
192
Dihydrotestosterone (DHT)
Testosterone converted to DHT in peripheral tissues by 5ALPHA REDUCTASE DHT high potency
193
Finasteride
5 alpha reductase inhibitor Used to treat BPH and male hair loss
194
Estradiol
Testosterone can convert to estradiol via AROMATASE Occurs in ADIPOSE TISSUE and Leydig cells

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