DIT Flashcards

1
Q

Kluver Bucy Syndrome clinical features and cause?

A
Disinhibited
Hyperdocility
Hyperorality
Hypersexuality
Curiosity

Caused by bilateral amygdala lesions

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2
Q

Order of human needs as described by Maslow

A
Self actualization
Esteem
Love and belonging
Safety
Physiological
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3
Q

Erikson’s stages of development: infant

A

Basic trust vs. mistrust

birth-18 months

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4
Q

Erikson’s: Toddler

A

Autonomy vs. shame

18 months-3 years

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5
Q

Erikson’s preschooler

A

Iniitiative vs. guilt

3 years-5 years

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6
Q

Erikson’s school-age child

A

Industry vs. inferiority

6-12 years

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7
Q

Erikson’s adolescent

A

Identity vs. role confusion

12-18 years

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8
Q

Erikson’s young adult

A

Intimacy vs. isolation

18-35 years

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9
Q

Erikson’s Middle aged adult

A

Generativity vs. self absorption

35-55 years

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10
Q

Older adult

A

Integrity vs. despair

55 years to death

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11
Q

What structural motifs allow for proteins to bind to dNA

A

helix loop helix
helix turn helix
zinc finger
Leucine zipper protein

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12
Q

What are the different RNA polymerases in eukaryotes?

A

RNA polymerase I: rRNA
RNA polymerase II: mRNA
RNA polymerase III: tRNA

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13
Q

Treat ADHD

A

Methylphenidate and dextroamphetamine
(CNS stimulants, cause release of catecholamines at the synaptic cleft)

or

Atomoxetine (norepinephrine reuptake inhibitor)

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14
Q

conduct disorder vs. anti-social personality disorder

A

less than 18 yo

older than 18

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15
Q

Oppositional defiant disorder vs. conduct disorder

A

Deep down they know its wrong

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16
Q

Treatment for tourette

A

behavioral therapy
fluphenazine
pimozide
tetrabenzine

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17
Q

Characteristics of autism spectrum disorder

A

Living in his own world

early childhood

lack of responsiveness to others

poor eye contact

absence of social smile

impairments in commnication

peculiar repetitive ritualistic habitis

fascination with specific seemingly mundane objects

below normal intelligence

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18
Q

Rett disorder

A

similar presentation to autism spectrum disorder

x linked dominant, seen almost exclusively in girls (homozygous dominant die in utero)

Loss of milestones or developmental regression

Intellectual disability

Ataxia

Loss of verbal abilities

Hand wringing and hand to mouth gestures

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19
Q

Causes of transudative pleural effusion

A
CHF
Cirrhosis
Nephrotic syndrome
Pulmonary embolus
Fluid overload
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20
Q

How is emphysema from smoking different than alpha1-antitrypsin deficiency

A

Smoking-centriacinar

alpha1-antitrypsin deficiency-panacinar

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21
Q

Treatment of anorexia

A

Psychotherapy, nutrtional

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22
Q

Signs of bulimia

A

Enlarged parotid glands
Increased serum amylase
Erosion of enamel of teeth
Hypokalemic hypochloremic metabolic alkalosis

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23
Q

Hypokalemic hypochloremic metabolic alkalosis

A

Stomach puts bicarb into serum to buffer the acid reabsorption, which doesnt happen. so you get alkalotic.

Opposite to DKA, you get hypokalemic b/c the potassium goes into the cells.

Chloride follows H+

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24
Q

Treatment of bulimia

A

SSRI (fluoxetine) with psychotherapy

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25
Criteria for anorexia
- Distorted body image - Intense fear of gaining weight - Refusal to maintain normal body weight, with BMI
26
Criteria for binge eating disorder
Episodes of binging with sense of lack of control At least 3/5 - Eating faster - Eating until uncomfortably full - Eating large amounts when not hungry - Eating alone - Feeling badly about it Marked distress or remorse At least 1x/week for 3 months with no compensatory behavior
27
What are the different RNA polymerases in prokaryotes
Only one. | Makes 3 types of RNA
28
What enzyme is deficient in Lesch-Nyhan syndrome? Treatment
HGPRT (hypoxanthine-guanine phosphoribosyltransferase) Tx: Allopurinol [for hyperuricemia/gout but mental disorder still present]
29
Causes of an exudative pleural effusion
``` Pneumonia Infection TB Cancer Uremia Connective tissue disease ```
30
Stages of Behavioral change
``` Precontemplation Contemplation Preparation/determination Action/Willpower Maintenance Relapse ```
31
Alcohol action
GABA receptors (like benzodiazepine and barbiturates)
32
Alcohol withdrawal symptoms
``` agitation anxiety insomnia tremor formication Deliirium tremens is severe ```
33
Delirium tremens
2-3 days after cessation of alcohol (often seen in post op) seizures and extreme autonomic hyperactivity
34
Treatment of alcohol withdrawal
Benzodiazepines | Alcohol
35
Screening for alcoholism
``` CAGE Cut back Annoyance Guilt Eye-opener ```
36
Wernicke Korsakoff syndrome Where does damage happen Treatment What to NOT DO
Thiamine (B1) deficiency ``` Wernicke encephalopathy (acute) and Korsakoff syndrome (long term consequence) ``` Damage to - Medial thalamus - Mammillary bodies of posterior hypothalamus Tx: IV thiamine DO NOT give glucose without thiamine first. because active thiamine is required for metabolism of glucose.
37
Wernicke encephalopathy
``` Confusion Nystagmus Ophthalmoplegia Ataxia Sluggish pupillary reflexes Coma and death if untreated ```
38
Korsakoff syndrome
Anterograde amnesia Retrograde amnesia Confabulation Hallucinations
39
Long term treatment of alcoholism
- AA: is tried and true best relapse prevention - Naltrexone (also opioid antagonst) - Disulfiram [inhibits acetylaldehyde dehydrogenase] - Topiramate [affects glutamate receptors, also used for migraine prevention and seizures] - Acamprosate (campral) [also affects glutamate receptors]
40
Time frame for schizophrenia
>6 months
41
Time frame for brief psychotic episode
42
Time frame for schizophreniform
1-6months
43
Criteria for schizoaffective disorder
Psychotic symptoms for 2 weeks or more in absence of mood disorder AND A time period with BOTH psychosis and a major mood disorder episode at the same time
44
Positive symptoms of schizophrenia Theory
delusions halucinations disorganized speech Grossly disorganized/catatonic Increased dopamine to mesolimbic system
45
Negative symptoms of schizophrenia Theory
``` alogia avolition affective flattening social withdrawal thought blocking poor grooming ``` Decreased dopamine to mesocortical
46
How long does a delusional disorder last?
>1 month
47
Characteristic finding for EM of dendritic cell with Langerhans cell histiocytosis
Birbeck granules, "Tennis rackets"
48
Low potency typical antipsychotics
Chlorpromazine | Thioridazine
49
SE of low potency typical antipsychotics
``` Anticholinergic SE Block D2 dopamine receptors Block muscarinic receptors Block alpha1 receptors--> Hypotension Block histamine receptors-->Sedation ```
50
High potency typical antipsychotics
``` Haloperidol Fluphenazine Loxapine Thiothixene Trifluoperazine ```
51
SE of high potency typical antipsychotics
Fewer anticholinergic, EPS/Tardive dyskinesia NMS within first several days: acute dystonia and torticollis. Treat wtih antimuscarinic or anticholinergic drug (benztropine or diphenhydramine) within first month: parkinsonism (bradykinesia, akinesia) within 2 months: Akathisia (restlessness Several months-years: Tardive dyskinesia (not an EPS). lip smacking. irrev.
52
SE Atypical antipsychotics
Fewer EPS Fewer anticholinergic Weight gain
53
Atypical antipsychotics
``` Olanzapine Quetiapine Risperidone Aripiprazole Clozapine ```
54
NMS symptoms treatment
``` Deliirium and altered mental status Autonomic instabliity Muscle rigidity Myoglobinuria Hyperpyrexia ``` tx: Dantrolene [also used for malignant hyperthermia] or dopamine agonist (bromocriptine)
55
Mech of atypical antipsychotics
block dopamine receptors block serotonin receptors block alpha-receptors:hypotension block histamine receptors:sedation and wt gain. (especially olanzapine, also diabetes)
56
Clozapine
Strongest most effective atypical antipsychotics But Agranulocytosis!! so need to check CBC weekly. Ergo third line antipsychotic.
57
Quetiapine
treat psychosis from parkinson meds Lowest risk of EPS
58
Mania
>1 wk. distinct period of abnormally and persistently elevated, expansive or elevated mood. SEveree enough to cause - marked impairment in social or occupation function - require hospitalization - psychotic features DIGFAST
59
DIGFAST
MANIA ``` Distractibility Irresponsibility Grandiosity Flight of ideas Activity/agitation Sleep (decreased need) Talkativeness/pressured speech ```
60
Hypomania (why different than mania)
same symptoms but less severe >4 days No marked impairment in social or occupational functioning!
61
Bipolar I disorder | Bipolar II disorder
1 manic episode vs. Hypomanic episode and 1 episode of major depression
62
NT changes in Depression
Decreased Dopamine Decreased Serotonin Decreased NE
63
NT changes in Mania
Increased serotonin | Increased NE
64
Cyclothymic disorder
at least 2 years of mild hypomanic and mild depressive symptoms. with no periods of normal mood longer than 2 months!
65
Treatment of bipolar disorder
Lithium Atypical antipsychotics - Risperidone - Aripiprazole - Olanzapine Antiepileptic - Lamotrigine - Valproic acid - Carbamazepine
66
SE of lithium
``` sedation and dizziness tremors sick sinus syndrome bradycardia heart block hypothyroidism goiter polyuria (blocking ADH action by blocking the luminal Aquaporin channels)-->Nephrogenic diabetes insipid Ebstein anomaly ```
67
Ebstein anomaly
Tricuspid leaflets are displaced inferiorly into the right ventricle Hypoplasia of the right ventricle Tricuspid regurgitation or stenosis Patent foramen ovale
68
Most common SE of lithium to occur rapidly (or any other time)
tremor
69
SSRI drugs
``` Fluoxetine Paroxetine Sertraline Fluvoxamine Escitalopram Citalopram ```
70
SNRI drugs
Venlafaxine Duloxetine Desvenlafaxine
71
TCAs drugs
``` Desipramine Nortriptyline Imipramine Amitriptyline Doxepin ```
72
MAOI drugs
Tranylcypromine Phenelzine Isocarboxazid
73
MDD with seasonal pattern
>2 years 2 major depressive episodess 2 year time frame No non-seasonal episode of MDD during the 2 years
74
SADPERSONS
``` Sex (males) Age (45) Depression Previous attempt Ethanol/drug use Rational thinking (loss) Sickness Organized plan No spouse/no social support Stated future intent ```
75
SSRI
Citalopram Fluoxetine Paroxetine Sertraline
76
serotonin syndorme treatment
``` hyperthermia hyperreflexia/myoclonus autonomic instability flushing diarrhea MSC ``` Tx: - Cooling down - Benzodiazepines - Stopping the medications -Cyproheptadine (serotonin antagonist, but not first line)
77
SNRIs
Desvenlafaxine Venlafaxine Duloxetine (also approved for neuropathic pain) Milnacipran (only for fibromyalgia, not depression)
78
TCAs
``` Amitriptyline Nortriptyline Imipramine Desipramine Clomipramine Doxepin Amoxapine ```
79
TCAs and their uses
Imipramine-enuresis OCD-clomipramine Fibromyalgia-amitriptyline Neuropathic pain-amitriptyline
80
TCA SE and Tx
``` Convulsions Coma Cardiotoxicity Respiratory depression Hyperpyrexia Confusion and hallucination ``` if CV toxicity-->Sodium bicarbonate (because trap the weak acid TCA in the urine and excreted)
81
MAOI
Tranylcypromine Phenelzine Isocarboxazid Selegilene (not antidepressant, MAO-B just for dopamine for parkinsonism)
82
MAOI SE
Hypertensive crisis (tyramine ingestion).
83
Atypical antidepressants
Bupropion Mirtazapine Trazodone
84
Bupropion use mech SE
Smoking cessation antidepressant inhibits reuptake of norepinephrine and dopamine - Lowers seizure threshold - stimulant (don't use at night) - NO SEXUAL SE, so can use in lieu of SSRI
85
Mirtazapine Mech SE
alpha2 antagonist, promoting further norepinephrine release. similar to SSRI except serotonin2 and serotonin3 receptor antagonist ``` SE: -Sedation Increased appetite -Wt gain -Dry mouth ```
86
Trazodone Mech Use SE
inhibits serotonin reuptake not for depression because would require too high dose. used for insomnia. along with bupropion can be used as adjunct for SSRI or SNRI SE: - Sedation - Priapism
87
Seronegative spondyloarthropathies
PAIR Psoriatic arthritis Ankylosing spondylitis Inflammatory Bowel disease Reactive arthritis (Reiter syndrome0
88
Hartnup disease
Deficiency of transporter for neutral AA (tryptophan) ``` Can't make niacin-->pellagra Dermatitis Diarrhea Dementia Death ```
89
Full saturation of glucose transporters
Begin spilling at 160 | Fully saturated at 350
90
Psamomma bdoesis
Papillary adenocarcinoma Serous cystadenocarcinoma of the ovary Meningioma Mesothelioma
91
lyti8c bone lesions on xray
multiple myeloma
92
What are the toxins for strep pyogenes
Streptolysin O-hemolysis on blod agar plates, oxygen labile Streptolysin S-oxygen stable Streptococcal pyrogenic exotoxins type A, B, and C- erythrogenic toxins
93
What is HUS
Hemolytic uremic syndrome O157:H7 serotype E. coli Hemolytic anemia Thrombocytopenia Acute renal failure
94
How are organic anions secreted in the proximal convoluted tubule?
Alpha ketoglutarate/Organic anion antitransporter. Alpha ketoglutarate is brought into cell by Alpha ketoglutarate/Na+ cotransporter. Na/K ATPase sets up gradient
95
How are organic cations secreted into the proximal convoluted tubule?
3Na2K ATPase, sets up electrical gradient. Organic cation/H+ cotransporter
96
What are the Tubular Fluid/Plasma concentrations of various substances along the proximal tubule?
PAH steepest Creatinine and Inulin linearly up Urea Chloride Potassium and sodium along the 1.0 line (slightly above , potassium slightly hgiher) Phosphate below, Amino acids and Glucose very much lower
97
What class of drugs inhibits the Na+/2Cl-/K+ symporter int he thick ascending limb and what is the result
Loop diuretics, leading to isotonic H2O secretion
98
Where does PTH act on the kidney?
Early distal tubule: increase Ca2+/Na+ exchange-->Calcium reabsorption Early proximal convoluted tubule: Inhibits Na+/PO4 cotransport-->Phosphate excretion
99
What are the 2 types of cells composing the collecting duct and the last segment of the distal tubule? What do they do?
Principal cells: - Reabsorb H2O and Na+ - Secrete K+ Intercalated cells: - Secrete H+ or HCO3- - Reabsorb K+
100
What are the two types of intercalated cells
Alpha cells-->Secrete H+ | Beta cells--> Secrete HCO3-
101
What are the potassium sparing diuretics?
Aldosterone antagonists - Spironolactone - Eplerenone Inhibit epithelial Na+ channels - Triamterene - Amiloride
102
What effect does aldosterone have on the principal cells and intercalated cells
Principal cells: reabsorption of Na+ and secretion of K+ Intercalated cells: Stimulates the secretion of H+
103
What happens at the thick ascending limb?
H2O impermeable Ca2+ and Mg2+ are reabsorbed Na/2Cl/K cosymporter is inhibited by loop diuretics
104
What are the uses for mannitol
Drug overdose, increased ICP, increased intraocular pressure (use for acute close angle glaucoma)
105
What are the uses for acetazolamide
Chronic glaucoma, urinary alkalinization,metabolic alkalosis, altitude sickness, pseudotumor cerebri
106
What are the loop diuretics
Furosemide Bumetanide Torsemide Ethacrynic acid (not a sulfa drug)
107
SE to Furosemide
OH DANG! - Ototoxicity - Hypokalemia - Dehydration - Allergy - Nephritis - Gout ototoxicity and nephrotoxicity when given with aminoglycoside
108
Uses for thiazides
- HTN - Idiopathic hypercalciuria (unless serum is also high as n hyperPT) - Nephrogenic diabetes insipidus
109
SE of thiazides
``` Hypokalemia Hyponatremia Hyperglycemia Hyperlipidemia Hyperuricemia Hypercalcemia ``` -Sulfa allergy!
110
Treatment of central DI
Intranasal desmopressin
111
Treatment of nephrogenic DI
Hydrochlorothiazide (increase proximal reabsorption) Indomethacin (2nd line or adjunct), inhibit prostaglandin synthesis and decrease renal blood flow and renal output
112
Treatment for nephrogenic DI lithium induced
Amiloride, blocks the sodium channels that lithium uses to enter the prinicpal cell
113
Causes of increased anion gap metabolic acidosis
``` MUDPILES Methanol Uremia Diabetic ketoacidosis Propylene glycol Iron tablets or isoniazid Lactic acidosis Ethylene glycol Salicylate ```
114
Causes of normal anion gap metabolic acidosis
``` HARD-ASS Hyperalimentation Addison disaease Renal tubular acidosis Diarrhea Acetazolamide Spironolactone Saline infusion ```
115
what nerve runs with anterior interosseous artery
anterior interosseous nerve
116
What nerve runs with posterior interosseous artery
deep branch of the radial nerve
117
what nerve runs with the posterior circumflex artery
axillary nerve
118
what nerve runs with the suprascapular artery
suprascapular nerve
119
What nerve rusn with the thoracodorsal artery
thoracodorsal nerve
120
what nerve runs with the deep brachial artery
radial nerve
121
what nerve rusn with the dorsal scapular nerve
dorsal scapular nerve
122
what nerve runs with the lateral thoracic artery
long thoracic nerve
123
what nerve runs with the ulnar artery
ulnar nerve
124
what nerve runs with the brachial artery
medial nerve
125
what causes a rash on the palms and soles
secondary syphilis rocky mountain spotted fever coxsackie A virus Kawasacki disease
126
Causes of Nephritic syndorme
- Acute poststreptococcal glomerulonephritis - Rapidly progressive glomerulonephritis - Berger disease (IgA glomerulonephropathy) - Alport syndrome
127
Causes of Nephrotic syndrome
``` Focal segmental glomerulosclerosis Membranous nephropathy Minimal cahnge disease Amyloidosis Diabetic glomerulonephropathy ```
128
What can present as boh nephritic and nephrotic
Diffuse proliferative glomerulonephritis Membranoproliferative glomerulonephritis
129
What is associated with IgA nephropathy? also what is the other name for IgA nephropathy
aka Berger disease Seen with Henoch-Schonlein purpura
130
When does IgA nephropathy present
with URI or acute gastroenteritis
131
What is cause for Alport syndrome
Mutation in type IV collagen leading to thinning and splitting of the glomerular basement membrane. Most commonly x linked
132
Presentation for Alport syndrome
Cant See, cant Pee, cant hear high C Glomerulonephritis Deafness Eye problems
133
If kidneys and lungs are attacked (Hematuria/hemoptysis).. you should think of
Goodpasture syndrome and Granulomatosis with polyangiitis (Wegeners'
134
What are the possible causes of Rapidly progressive (crescentic) glomerulonephritis
Goodpasture syndrome Granulomatosis with polyangiitis Microscopic polyangiitis Lupus
135
What is notable about minimal change disease? What causes it. Treatment.
Effacement of foot processeses Most common cause of nephrotic syndrome in children, triggered by infxns or immunizations Tx: Corticosteroids
136
causes of membrano-proliferative glomerulonephritis
Hepatitis b Hepatitis C Lupus Subacute bacterial endocarditis
137
sign of membrano-proliferative glomerulonephritis
Tramtrack appearance of GBM splitting caused by mesangial ingrowth Subendothelial immune complex deposits with granular IF
138
sign of membranous nephropathy
Spike and dome appearance with subepithelial deposits
139
signs of diabetic glomerulonephropathy
eosinophilic round acellular nodules within the glomeruli (Kimmelstiel noduels) Nonenzymatic glycosylation of GBM, increased permeability and thickening Nonenzymatic glycosylation of efferent arterioles, increased GFR, mesangial expansion
140
Linear pattern of IgG deposition on IF
Goodpasture syndrome
141
Lumpy bumpy deposits of IgG, IgM, and C3 in the mesangium
Poststreptococcal glomerulonephritis
142
Deposits of IgA in the mesangium
IgA nephropathy
143
Anti-GBM antibodies, hematuria, hemoptysis
Goodpasture syndrome
144
Nephritis, deafness, cataracts
Alport syndrome (xlinked mutation in type IV collagen)
145
Crescent formation in the glomeruli
rapidly progressive glomerulonephritis
146
Wire-loop appearance on LM
Diffuse proliferative glomerulonephritis
147
Nephrotic syndrome associated with HIV
focal segmental glomerulosclerosis
148
Nephrotic syndrome associated with Hep B
Membranoproliferative glomerulonephritis
149
EM:spiking of the GBM due to subendothelial depostis
Membranous nephropathy
150
nodular hyaline deposits in the glomeruli
Kimmelstiel wilson onodules (diabetic nephropathy)
151
Glomerulonephritis plus pulmonary vasculitis
Granulomatosis with polyangiitis | Goodpasture syndrome
152
What nerve most likely damaged in fibular neck fracture
deep peroneal nerve
153
RBC cast
glomerular damage
154
WBC cast
acute pyelonephritis
155
Bacterial cast
pyelonephritis
156
Epithelial cell cast
ATN (acute tubular necrosis), toxic ingestions
157
Waxy cast
Chronic renal failure
158
Hyaline cast
nonspecific, can be normal, often in concentrated urine samples
159
Fatty cast
nephrotic syndrome
160
Granular cast
ATN, acute tubular necrosis, chronic renal disease
161
What are the different types of kidney stones in order of occureance
Calcium (80%) (oxalate or phosphate or both) Ammonium magnesium phosphate (15%) Uric acid (5%) Cystine (1%)
162
which kidney stone type is radiolucent (not seen on xray). but seen on CT or ultra sound
Uric acid
163
Calcium kidney stones treatment causes
thiazides and citrate hypercalciuria - cancer - increase pth - ethylene glycol (calcium oxalate) - increased vitamin c (Calcium oxalate)
164
ammonium magnesium phosphate causes how can it present tx
urease positive bugs (proteus mirabilis, staphylococcus, klebisella) that hydrolyze urea to ammonia leading to urine alkalinization. can present as staghorn calculi tx: eradiction of underlying infxn and surgical removal of stone
165
Cystine stone presentation and treatment
Can form staghorn calculi tx: alkalinize urine
166
Wilms tumor
most common renal malignancy of children 2-4 yo Hematuria, large flank mass Deletion of WT1 or WT2 on chr 11 assoc with WAGR complex
167
WAGR complex
Wilms tumor Anidiridia (lack of iris) Genitourinary malformation Retardation
168
Transitional cell carcinoma
most common tumor of urinary tract system (can occur in renal calycyes, renal pelvis, ureters, bladder) Painless hematuria (no casts) suggests bladder cancer Risks: - Phenacetin - smoking - Aniline dyes - Cyclophosphamide
169
drug induced acute interstitial nephritis features
fever rash eosinophilia azotemia
170
thyroid like appearance of kidney
chronic pyelonephritis
171
Cholinesterase inhibitor poisoning presentation
DUMBBELSS ``` Diarrhea Urinatin Miosis Bronchospasm Bradycardia Excitation Lacrimation Sweating Salivation ```
172
Blocking parasympathetic presentation
DUMBBeLSS (skeletal muscle and CNS excitation are mediated by nicotinic receptors) ``` Hot as a hare Dry as a bone Red as a beet Blind as a bat Mad as a hatter ```
173
1st aortic arch forms what
Part of maxillary artery (Branch of external carotid) [1st arch is maximal]
174
2nd aortic arch forms what
Stapedial artery and hyoid artery
175
3rd aortic arch forms what
Common carotid artery and proximal part of internal carotid artery
176
4th aortic arch forms what
On left, aortic arch; on right, proximal part of right subclavian artery
177
6th aortic arch forms what
Proximal part of pulmonary arteries and (on left only) ductus arteriosus)
178
Branchial clefts derived from what
derived from ectoderm aka branchial grooves
179
Branchial arches derived from what
derived from mesoderm (muscles, arteries) and neural crest (bones, cartilage)
180
Branchial pouches derived from what
derived from endoderm
181
Branchial cleft derivatives
1st cleft-->external auditory meatus 2-4 clefts form temporary cervical sinuses obliterated by proliferation of 2nd arch mesenchyme
182
1st branchial arch
Cartilage -Meckel cartilage: Mandible, Malleus, incus, spheno-Mandibular ligament Muscles -Muscles of Mastication (temporalis, masseter, laterla and medial pterygoids), mylohyoid, anterior belly of digastric tensor tympany, tensor veli palitini) Nerves -CN V2, and V3 (chew)
183
Abnormality in 1st branchial arch
Treacher Collins syndrome (mandibular hypoplasia, facial abnormalities)
184
2nd branchial arch
Cartilage -Stapes, styloid process, lesser horn of hyoid, stylohyoid ligament Muscles -Muscles of facial expression (Stapedius, Stylohyoid, platySma, belly of digastric) Nerves -CN VII (facial expression, smile)
185
abnormality in 2nd branchial arch
Congenital pharyngocutaneous fistula (persistence of cleft and pouch-->fistula between tonsillar area and lateral neck)
186
3rd branchial arch
Cartilage -Greater horn of hyoid Muscles Stylopharyngeus, innerv by the glossopharyngeal nerve ``` Nerves CN IX (stylopharyngeus) swallow stylishly ```
187
4-6th branchial arches
Cartilage - Thyroid - cricoid - arytenoids - corniculate - cuneiform Muscles 4th: most pharyngeal constrictors, cricothyroid, levator veli palitini 6th: all intrinsic muscles of larynx except cricothyroid Nerves 4th: -CN X (superior laryngeal branch), simply swallow 6th: -CN X (recurrent laryngeal pbranch) [speak]
188
clinical consequence of a glycolytic enzyme deficiency
Hemolytic anemia (no ATP for Na/K ATPase resulting in RBC swelling and lysis)
189
Rate limiting step in glycolytic pathway
phosphofructokinase-1
190
How does insulin or glucagon control glycolytic pathway
Glucagon receptor, Adenyl cyclase, PKA, then the phosphorylation of the PFK-2/FBP-2 complex causes FBP-2 action results in decreased Fructose-2,6 bisphosphate Conversely, increased insulin to glucagon ratio decreases AC, decreases PKA, hypophosphorylates the enzyme complex resulting in greater PFK-2, results in increased Fructose-2,6 bisphosphate, resluting in sitimulated PFK-1 to go through glycolytic pathway
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what part of basal ganglia if lesioned causes hemiballismus and how
subthalamic nucleus lesioned in a lacunar stroke.
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Open angle glaucoma presentation Risk factor
Risk factor: >40, black, diabetes Common, insidious form, bilateral early: asymptomatic late: areas of reduced/absent vision; contraction of visual field (peripheral to central)
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acute angle closure glaucoma
emergency abrupt onset of pain, nausea, colored halos, rainbows around light red teary eye with hazy cornea and fixed, mid dilated pupil (not reactive to light), that is firm to palpation
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What are the retroperitoneal abdominal structures
SAD PUCKER A DUCK PAIR ``` Adrenal glands Duodenum (2,3,4 parts) Ureters Colon (descending and ascending) Kidneys Pancreas (not tail) Esophagus (south of diaphragm) Aorta Rectum ```
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Gluconeogenesis enzymes
1. Pyruvate carboxylase (with biotin) 2. PEP carboxykinase 3. Fructose-1,6-bisphosphatase 4. Glucose-6-phosphatase
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where can gluconeogenesis take place?
Hepatocytes Kidney Intestinal epithelium
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Gibbs free energy equation
deltaG=deltaH-T*deltaS H=energy/enthalpy (heat change in constant pressure rxns) S=entropy/disorder/randomness
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pathway of aqueous humor
ciliary body production posterior chamber anterior chamber, reabsorbed by canal of schlemm
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metoclopramide mechanism
antagonist at the dopamine D2 receptor Serotonin agonist increases contractility in the GI tract
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What are the 2 functions of debranching enzyme
transferase 4-alpha-D-glucanotrasnferase (brings 3 of the 4 to the end of the other strand) alpha-1,6 glucosidase (cleaves off remaining as glucose)
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What are the glycogen storage diseases and their mechanism?
- McArdle (deficiency in glycogen phosphorylase) aka Glycogen storage disease type V - Von Gierke disease (deficiency in glucose-6-phosphatase) aka Glycogen storage disease type I - Cori's disease (deficiency in alpha-1,6-glucosidase) aka Glycogen storage disease type III - Pompe disease (deficiency of alpha-1,4 glucosidase in the lysosomes) aka Glycogen storage disease type II
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McArdle disease (type V) Mech presentation life expectancy
Mech: (glycogen buildup-->osmotic, lyse) Rhabdomyolysis -Myoglobinuria -Renal failure Muscle cramping Normal life expectancy
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Von Gierke disease (Type I) mech presentation treatment
Mech: (liver, enterocytes, kidney) cannot share glucose ``` Severe fasting hypoglycemia Hepatomegaly Enlargement of the kidneys Elevated serum lactate Elevated uric acid Hypertriglyceridemia ``` tx: feed patient frequently, overnight give cornstarch
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Cori disease (Type III) mech presentation
Mech: (defect in debranching enzyme. cannot break alpha1,6 linkages). like milder von gierke milder hypoglycemia no elevation in lactate levels no elevation in uric acid
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Pompe disease (Type II) Mech Presentation
Mech: (Deficiency of alpha-1,4 glucosidase in the lysosomes) 2 forms: * Infantile form - severe muscle weakness - cardiomegaly and heart failure - shortened life expectancy * Adult form, some activity but less than normal - No cardiac involvement - Gradual onset of skeletal muscle weakness - Diaphragm weakness - Respiratory failure
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``` Limiting rate enzyme for De novo pyrimidine synthesis De novo purine synthesis Glycolysis Gluconeogenesis Glycogne synthesis Glycogenolysis TCA cycle Hexose monophosphate shunt ```
``` Carbamoyl phosphate synthetase-2 Glutamine PRPP amidotransferase Phosphofructokinase-1 Fructose-1,6-bisphosphatase Glycogen synthase glycogen phosphorylase isocitrate dehydrogenase Glucose-6-phosphate dehydrogenase ```
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what enzyme catalyzes the rate limiting step in carbohydrate digestion
oligosaccharide hydrolases at brush border
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what enzymes are involved in the TCA cycle that we should know
Citrate synthase Isocitrate dehydrogenase (RLS) alpha-Ketoglutarate dehydrogenase (TLC For Nobody cofactors same as PDH)
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What cofactors are needed for pyruvate dehydrogenase
TLC For Nobody (same as for alpha-ketoglutarate dehydrogenase) ``` Thiamine (B1) Lipoic acid Coenzyme A (B5) FAD (B2) Niacin (B3) ```
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Uncoupling agents
Thermogenin Aspirin 2,4-DNP (dinitrophenol)
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Disruptions in mitochondrial electron transport
``` Complex 1 (NADH reductase): Amytal/Rotenone/MPP Complex III (Cytochrome b+c1): Antimycin A Complex IV (Cytochrome a+a3): CN/N3-/CO/H2S H+ATPase: Oligomycin A ```
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What are the nitrogen carriers in the blood
alanine and glutamine
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required cofactor of all aminotransferases
Pyridoxal phosphate (deriv of vitamin B6)
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what are the 2 most important aminotransferases and what do they catalyze
- Alanine aminotransferase (alanine and alpha-ketoglutarate goes to glutamate and pyruvate) - Aspartate aminotransferase (glutamate and oxaloacetate goes to alpha-ketoglutarate and aspartate)
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causes of acute pancreatitis
``` BAD HITS biliary causes alcohol Drugs hypertriglyceridemia/hypercalcemia idiopathic trauma (ERCP) scorpion sting ```
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enzymes for red cells to detoxify hydrogen peroxide
Glutathione peroxidase Glutathione reductase Glucose-6-phosphate dehydrogenase
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enzymes for production of ROS
NADPH oxidase Superoxide dismutase Myeloperoxidase
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oxidative substances
``` Anti-malarial drugs (primaquine and chloroquine) Nitrofurantoin Dapsone Sulfonamides Isoniazid Naphthalene Fava beans Ibuprofen High dose ASA (Aspirin) ```
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Glucose-6-phosphate dehydrogenase deficiency presentation
Hemolytic anemia Heinz bodies Bite cells
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Prophylaxis for all malaria species except P. falciparum
Chloroquine | safe during pregnancy also
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Prophylaxis for resistant strais of P. falciparum
Atovaquone-proguanil recommended | Mefloquine is alternative drug
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Tx for P.vivax/ovale
Chloroquine plus primaquine
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Tx for P. falciparum
Chloroquine sensitive: Chloroquine without primaquine Chloroquine resistant: quinine sulfate and doxycycline
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Essential fructosuria cause presentation
Deficiency in Fructokinase builds up in blood and spills into urine. BENIGN. just can't use fructose as a energy source
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Fructose intolerance Mech Presentation Tx:
Deficiency in Aldolase B. Buildup of Fructose 1-P, end up inhibiting glycogenolysis and gluconeogenesis. cannot correct fasting hypoglycemia. Hypglycemia and vomiting (esp after consuming fructose or sucrose) Tx: decrease intake of fructose and sucrose
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Galactokinase deficiency mechanism presentation
lack of galactokinase. accumulation of galactitol (accumulates in blood and urine)-->cataracts
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Classic galactosemia mech presentation Treatment
deficiency of Galactose-1-phosphate-uridyltransferase hepatomegaly, jaundice, failure to thrive, intellectual disability tx: exclude lactose and galactose
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Lactase deficiency
lactose passes into the colon, bacteria consume. - gas - bloating, cramping, flatulence - osmotic diarrhea tx: supplement lactase in diet avoid dairy products
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rate limiting step ofpentose phosphate pathway
G6PD
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what tissues use the pentose phosphate pathway
RBC liver Adrenal cortex Mammary glands (reducing reactive oxygen species, and for making cholesterol and fatty acids)
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tx iron overdose
Dferoxamine
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tx Mercury, Gold, Arsenic
Dimercaprol (BAL)
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tx Acetaminophen overdose
N-acetylcysteine
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tx: copper overdose
penicillamine
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tx: lead posoning
EDTA (Ethylenediamine tetraacetic acid) or Succimer
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Associations with primary biliary cirrhosis
Can have IBS (like UC) Cholangiocarcinoma Gallbladder carcinoma Colorectal carcinoma (huge risk when you have BOTH PSC AND UC)