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Last Set 3 Flashcards

1
Q 
Loss of pain and temp on C/L body
Loss of pain and temp on ipsl face 
Hoarseness 
Difficulty swallowing 
Loss of gag reflex 
Vertigo 
Nystagmus 
N/V
A

Lateral Medullary syndrome (Wallenberg)

PICA

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2
Q 
Dysphagia
Dysphonia 
Dysarthria 
C/L spastic hemiparesis 
Ipsl ptosis 
Pupillary dilation 
Lateral strabismus (down and out)
A

Weber syndrome

Anterior midbrain infarction resulting from occlusion of paramedian branches of the posterior cerebral artery

Oculomotor nerve
Cerebral peduncle lesion

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3
Q

Carotid sheath contains (3)

A

Internal jugular v.
Common carotid A.
Vagus n.

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4
Q

Magnetic gait

A

Normal pressure hydrocephalus

Wet wacky wobbly

Urinary incontinence
Dementia
Gait disturbances

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5
Q

Jaw muscle pain when chewing

A

Giant cell arteritis

Temporal arteritis

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6
Q

Headache + Extraocular muscular palsies

A

Cavernous sinus thrombosis

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7
Q 
Rapidly progressive primary brain tumor
Irregular necrotic center 
Surrounded by edema 
GFAP stain 
Pseudopalasating pattern "snake like"
A

Glioblastoma

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8
Q

Slow growing primary brain tumor
“Whorled”
Surface of brain
Psammoma bodies

  • originates
  • risk
A

Meningioma

Arachnoid cells

Risk

  • Radiation
  • Neurofibromatous type 2
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9
Q

Slow growing brain tumor
Frontal lobe
Perinuclear cytoplasmic clearing

A

Oligodendroglioma

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10
Q

Posterior fossa brain tumor
GFAP
Rosenthal fibers

A

Pilocytic astrocytoma

Rosenthal fibers: eosinophilic corkscrew fibers

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11
Q

Rathke’s pouch
Compresses optic chiasm
Supratentorial tumor of childhood

A

Craniopharyngioma

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12
Q

Malignant brain tumor
Cerebellar
Compress 4th ventricle
Homer-wright rosettes

A

Medulloblastoma

Cells circle around tangle of fibers

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13
Q

Compress 4th ventricle

Peri-vascular pseudo-rosettes

A

Ependymona

Circular arrangement of cell around vessel

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14
Q

Eosinophilic corkscrew fibers

A

Rosenthal fibers

Pilocytic astrocytoma

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15
Q

Uvela deviates to right, damage to what 2 things

A

Left vagus n.

Left nucleus ambiguus

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16
Q

alpha 1
alpha 2
Beta 1
Beta 2

A

Alpha 1: vascular smooth m. contraction

  • increase resistance and BP
  • bladder sphincter contraction

Alpha 2: Inhibit NE release

Beta 1: Heart

  • Tachycardia
  • increase contractility
  • release renin

Beta 2: Lungs

  • Vasodilation
  • bronchodilation
  • insulin release
  • decrease uterine tone
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17
Q

Structures in cavernous sinus

A 
Oculomotor
Trochlear n. 
Abducens 
Opthalmic div V1 
Maxillary div V2

Internal carotid A.

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18
Q

Aortic arches

A

Most likely to be test on 3rd and 4th

1st
- Part of maxillary A.

2nd

  • stapedial A.
  • hyoid A.

3rd

  • common carotid a.
  • proximal part of internal carotid A.

4th

  • Left: arch of adult aorta
  • Right: Proxiaml part of right subclavian a.

6th

  • proximal part of pulmonary A.
  • Ductus arteriosus
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19
Q

Pregestational diabetes possible heart defect

A

Transposition of great vessels

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20
Q

Mean arterial pressure (P) =

A

MAP = Cardiac output (Q) x Peripheral resistance (R)

P= QxR

MAP= 2/3 diastolic pressure + 1/3 systolic pressure

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21
Q

Liver disease does what to starling forces

A

Decreases plasma colloid osmotic pressure

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22
Q

Affect on starling forces

  1. HF
  2. Liver failure
  3. Oliguric renal failure
  4. Infections
  5. Nephrotic syndrome
  6. Lymphatic blockage
  7. Burns
  8. Diuretic administration
  9. IV infusion of albumin
  10. Venous insufficiency
A
  1. HF= Increase Pc
  2. Liver failure= Decrease TTc
  3. Oliguric renal failure= Increase Pc
  4. Infections= Increase Kf
  5. Nephrotic syndrome= Decrease TTc
  6. Lymphatic blockage= Increase TTi
  7. Burns= Increase Kf
  8. Diuretic administration= Decrease Pc
  9. IV infusion of albumin= Increase TTc
  10. Venous insufficiency= Increase Pc
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23
Q

Inspiration makes what murmur louder

A

Tricuspid

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24
Q

What murmur is louder with expiration

A

Mitral

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25
MOA of N-acetylcysteine for acetaminophen overdose
Regenerates glutathione
26
9;22 cell looks like
CML Blood smear shows leukocytosis with many immature myeloid cells (horseshoe nucleus)
27
12;21
B cell- ALL Anemia Thrombocytopenia Lymphoblasts
28
Basaloid cells with peripheral palisading nuclei
Basal cell carcinoma Slow growing papules, ulceration or rolled border
29
Allelic heterogeneity
Multiple genes same phenotype
30
Genetic mutations chromosome 7
Cystic fibrosis Ehlers Danlos Osteogenesis imperfecta
31
Genetic mutations chromosome 16
Polycystic kidney disease | Tuberous sclerosis
32
Increase in branched chain alpha-keto acid What can also be deficent
Maple syrup urine disease Alpha ketoacid dehydrogenase require thaimine pyrophosphate (Vit B1) as coenzyme
33
Glucose 6 phosphatase deficiency
Von Gierke disease
34
Glycogen phosphorylase deficiency
McArdle
35
Chromogranin
Carcinoid tumor Secretes serotonin
36
Diabetes medications 1. Acarbose 2. Canagliflozin 3. Glyburide 4. Pioglitazone 5. Repaglinide
Acarbose -intestinal brush border alpha glucosidase inhibitor decreases postprandial hyperglycemia by reducing GI absorption of glucose Canagliflozin - sodium glucose cotransporter 2 inhibitors, act on kidney to decrease reabsorption of filtered glucose Glyburide (sulfonylureas) and Meglitinides (repaglinide) - bind to and close ATP sensitive K channels in pancreatic beta membrane - depolarize and open L type Ca channel - Increase Ca influx, insulin release Pioglitazone (Thiazolidinediones) peroxisome proliferator-activated receptor gamma (PPAR-y) - decrease insulin resistance - expression glut 4 - adiponectin
37
Celiac disease location
Distal duodenum | Proximal jejunum
38
Cystic fibrosis type of mutation
Frame shift
39
Stimulates neutrophil migration to sites of inflammation
Leukotriene B4
40
Hyperlipoproteinemias types
Type I (AR) - Familial chylomicroenemia - Defect: Lipoprotein lipase - Defect: ApoC-2 production - Elevated chylomicrons - Acute pancreatitits*, Lipemia retinalis, eruptive xanthomas ``` Type IIA - Familial hypercholesterolemia - Defect: LDL receptor - Defect: ApoB-100 - Elevated LDL* (Impaired LDL particle uptake by hepatocytes) -Premature atherosclerosis* - Tendon xanthomas, xanthelasmas (yellow deposit around eyes) ``` Type III - Familial dysbetalipoproteinemia - Defect ApoE - Elevated: chylomicron & VLDL remnants - Premature atherosclerosis* - Tuboeruptive and palmar xanthomas Type IV - Familial hypertriglyceridemia - Defect Polygenic - Elevated VLDL - Associated with coronary disease, pancreatitis and diabets
41
Measuring pressure in pulmonary artery is also measuring pressure where?
Left atrial pressure
42
Ammonium and bicarbonate generated from AA Urea and ornithine produced from pyruvate produced from AA oxaloacetate produced from AA
glutamine arginine Alanine aspartate
43
Intellectual disability Hx of seizures Abnormal pallor of substantia nigra, locus ceruleus and vagal nucleus dorsalia
Phenylalanine hydroxylase deficiency PKU Cant convert phenylalaine to tyrosine
44
Acute compartment syndrome (ACS) affects what in the leg
Foot extensors Anterior tibial A. Deep peroneal (Fibular) nerve
45
Pleiotrophy
One mutation multiple things wrong w/ person
46
Takes place in cytosol vs mitochondria
Cytosol - Glycolysis - FA synthesis - Pentose phosphate pathway Mitochondria - beta oxidation of fatty acids - citric acid cycle carboxylation of pyruvate (gluconeogenesis)
47
Interferon alpha and beta do what
halt protein synthesis Only works on dsDNA
48
Anemia Hypercoagulability Pancytopenia
Paroxysmal nocturnal hemoglobinuria (PNH) Mutation PIGA Deficiency: glycosylphosphatidylinositol (GPI) anchor Deficiency: CD55 CD59
49
Tx Manic depression
Valproic acid Lithium Carbamazepine
50
Replicative process 1) DS dna --> DS dna template --> ds DNA progeny 2) DS dna -> +RNA template -> partially ds-DNA 3) ssDNA --> ds DNA template --> ss DNA progeny 4) ss +RNA --> ds DNA template --> ss +RNA progeny 5) ss +RNA --> - RNA template --> ss + RNA progeny 6) ss -RNA --> +RNA template --> ss -RNA progeny
1) Adenovius, herpesvirus, poxvirus 2) Hepatitis virus 3) Parvovirus B19 4) Retroviruses (HIV) 5) poliovirus 6) Influenza virua, measles virus, rabies virus
51
Polyostotic Fibrous dysplasia associated with
Bone replaced by collagen and fibroblast Assoc with McCune Albright syn - Precocious puberty - Cafe au lait - Fibrous dysplasia bone
52
Fibromyalgia
Excess tenderness at 11 of 18 sites Fatigue Tx. Pregabalin, milnacipran
53
cellulitis tx - description - organisms - MRSA - non-MRSA
Painful tender to touch Rapidly spreads S. Aureua S. Pyogenes Non-MRSA( no abscess) - oral dicloxacillin, cephalexin MRSA: - oral trimethoprim/sulfamethoxazole - clindamycin
54
Precocious puberty Cafe au lait spots Fibrous dysplasia bone
McCune albright syndrome
55
Necrotizing fasciitis organism Tx
Strep. pyogenes Anaerobic bacteria Tx: Debridement IV carbapenem clindamycin
56
Painful flaccid blister biopsy shows Ab against test unique feature
Pemphigus vulgaris acantholysis Ab desmosomes Positive Nikolsky sign oral lesions
57
Tight raised blister biopsy shows Ab against test unique feature
[Bullous pemphigoid- Tight raised blister] - Ab to hemidesmosomes - Eosinophils within blister - Negative nikolsky - no oral lesion
58
Blister IgA in tips of dermal papillae
Dermatitis herpetiformis assoc w/ celiac
59
Pruritic, purple, polygonal papules and plaques - microscopically see - assoc with
Lichen planus Sawtooth pattern at dermal-epidermal junction Hepatitis C
60
Erythema nodosum assoc with
Painful raised lesions on shins Sarcoidosis, histoplasmosis, Tb, leprsy
61
Erythema multiforme
Target lesions
62
Ligaments of ovaries/ uterus with no vessels
Round ligament of uterus - gubernaculum - uterus thorugh inguinal canal to labia majorum Ovarian ligament - ovary to uterus - gubernaculum
63
Indirect inguinal hernia Direct inguinal hernia
Indirect inguinal hernia - Most common - Congenital due to failure of closure of processus vaginalis - Protrude through deep inguinal ring, lateral to inferior epigastric vessels and pass through inguinal canal Direct inguinal hernia - Weakening of abdominal wall in Hesselbach's triangle - Increase pressure heavy lifting - Directly through abdominal wall medial to inferior epigastric vessel, exit out superficial inguinal ring
64
Genital homologs 1) Glans penis 2) Corpus spongiosum and corpus cavernosum 3) Bulbourethral (Cowper) glas 4) Prostate gland 5) Ventral shaft of penis 6) Scrotum
1) Glans penis= glans clitoris 2) Corpus spongiosum and corpus cavernosum= vestibular bulbs 3) Bulbourethral (Cowper) glands= Greater vestibular (Bartholin) glands 4) Prostate gland= Urethral and paraurethral (skene) glands 5) Ventral shaft of penis= Labia minora 6) Scrotum= Labia majora
65
Amenorrhea | Loss of smell
Kallman syndrome Defect of X linked KAL chain Decrease GnRH --> Low LH and FSH
66
Prostatitis or Epididimitis - Organism - Tx
<35: Gonorrhea, Chlamydia >35: E coli, klebsiella, serratia, enterobacter, proteus GC/Chlamydia: Ceftrixone (IM) then doxycycline Ecoli: Fluoroquinolone Tx: Fluoroquinolone (levofloxacin), TMP-SMX
67
Byproducts of MAO and COMT enzymatic activity of dopamine, NE, Epinephrine
Dopamine --> homovanillic acid (HVA) NE --> Vanillylmandelic acid (VMA) Epi --> Metanephrine
68
Smooth white plaques on vulva Parchment paper Fusion of labia majora and minora - due to - tx - risk of
Lichen sclerosus Thinning of epidermis Corticosteroids SCC of vulva
69
Koilocytosis - looks like - assoc with (3)
Enlarged nuclei and perinuclear halo Fried egg Seminoma Dysgerminioma HPV
70
Rosettes of tumor cells surrounding eosinophilic spaces
Call- Exner body Granulosa cell tumors yellow produce estrogen
71
Meigs syndrome
Ovarian tumor Ascites Pleural effusion
72
Bloody brown vaginal discharge - arises from - metastasizes to
Choriocarcinoma Complete mole, miscarriage, normal pregnancy, ectopic pregnancy Lung
73
Trisomy 21 lab values Trisomy 18 Trisomy 13
Decrease AFP Decrease estriol Increase hCG Increase inhibin Decrease AFP Decrease estriol Decrease hCG Decrease hCG, PAPP-A
74
Kleinfelter labs
Testicular atrophy Decrease testosterone Decrease inhibin Increase FSH
75
High-pitched crying and newing also seen (4) Mutation
Cri-du-chat syndrome Microcephaly Severe intellectual disability Epicanthal folds Cardiac abnormalities 5p deletion
76
William syndrome - characteristics (5) - mutation
``` Elfin facies Intellectual disability Hypercalcemia (hypersensitivity to Vit D) Good verbal skills Friendly w/ strangers ``` Microdeletion of long arm of chr 7
77
Bilateral acoustic neuroma Hearing loss Tinnitus mutation
NF2 Chr 22 AD
78
Cafe au lait spots Neural tumor Lisch nodules (pigment hamartoma in eye) Scoliosis mutation
NF I AD mutation chr 17
79
``` Facial lesions Hypopigmented ash leaf spots Cortical and retinal hamartomas seizures intellectual diability ```
Tuberous sclerosis Mutation of hamartin or tuberin gene
80
AD disease fits 1) Associated with mitral valve prolapse, liver disease, berry aneurysms 2) Neural tumors and pigmented iris hamartomas 3) Very strong association with colon cancer 4) MI before age 20 5) Hemangioblastomas of retina/ cerebellum/ medulla 6) Increased MCHC, hemolytic anemia 7) Bilateral acoustic neuromas 8) Facial lesions, seizure disorder, cancer risk 9) Caudate atrophy, dementia 10) Cystic medial necrosis of aorta 11) Defect of FGF receptor 3 12) Assoc w/ floppy mitral valve, dissecting aortic aneurysm
1) ADPKD 2) NF1 3) Familal adenomatous polyposis 4) Familial hypercholestrolemia 5) VHL 6) Hereditary spherocytosis 7) NF2 8) Tuberous sclerosis 9) Huntington's dis 10) Marfan syn 11) Achondroplasia 12) Marfan syndrome
81
Painless papules on lower abdomen peripheral neuropathy glomerulopathy (renal failure)
Fabry disease Deficient: alpha- galactosidase Accumulation: ceramide trihexoside; globotriaosylceramide
82
``` Hepatosplenomegaly Cherry red spot Painful bony lesions Anemia Fatigue thrombocytopenia ``` -Microscopically
Gaucher disease Deficient: glucocerebrosidase Accumulation: Glucocerebroside Prominent blue cytoplasmic fibrils (crumpled tissue paper)
83
``` Hepatosplenomegaly Cherry red spot Thrombocytopenia Ataxia Dysarthria Dysphagia Gradual worsening of intellectual fxn ``` - Mircoscopically
Niemann-Pick disease Deficient: Sphingomyelinase Accumulation: sphingomyein Foam cells
84
Irritability Regression of motor skills Macrocepahly Cherry red spot
Tay-Sachs Deficient: hexosaminidase A Accumulation: GM2 ganglioside
85
``` Peripheral neuropathy Seizures Optic atrophy Developmental delay Weakness ```
Krabbe disease Deficient: galactocerebrosidase Accumulation: galactocerebroside
86
Muscle wasting Weakness Progressive vision loss Dementia
Metachromatic leukodystrophy Deficient: arylsulfatase Accumulation: cerebroside sufate
87
``` Progressive deterioration Coarse facial features Hepatosplenomegaly Intellectual disability Poor growth (dwarfism) Corneal clouding ```
Hurler syndrome Deficient: alpha-L-iduronidase Accumulation: heparan sulfate and dermatan sulfate
88
``` 2 y.o Progressive deterioration Coarse facial features Hepatosplenomegaly Intellectual disability Poor growth (dwarfism) Aggressive behavior ```
Hunter syndrome Deficient: iduronate sulfatase Accumulation: heparan sulfate and dermatan sulfate
89
Hepatomegaly Hypoglycemia Seizure Lactic acidosis
Von Gierke Glycogen storage disease
90
Cardiomegaly | Severe hypotonia
Pompe disease Lysosomal alpha-1,4, glucosidase deficiency
91
What type lysosomal storage diseases have myelin sheath pathology leading to peripheral neuropathy
Krabbe disease Metachromatic leukocystrophy
92
Large bulky breast tumor | Leaf like projections on histology
Phyllodes tumor
93
Signet ring cells ER and PR positive Breast tumor
LCIS
94
Heat stable toxin
ETEC | Yersinia enterocolitica
95
What ovarian tumor matches each of hte following 1) Estrogen secreting leading to precocious puberty 2) Produces AFP 3) Psammoma bodies 4) Testosterone secreting leading to virilization
1) Granulosa theca cell tumor 2) Yolk sac tumor 3) serous cystadenocarcinoma 4) Sertoli-leydig cell tumor
96
T cell activation
2 signals TCR and CD4/CD8 binds to MHC II/I B7 protein (CD80/86) on APC binds to CD28 of T cell
97
Immune dysregulation | Polyendocrinopathy (IPEX)
- Type I diabetes - Thyroiditis Enteropathy - Severe diarrhea - Failure to thrive X linked Loss FOXP3 Lack TREG
98
Male infant Severe chronic diarrhea Neonatal diabetes or thyroiditis Eczema
IPEX Mutation of FOXP3
99
NK cells activity induced by
IL-12 IL-2 IFN-alpha IFN-beta
100
Opsonization
C3b | IgG
101
Stimulates mast cells and basophils (complement)
C3a
102
C5a does what
Neutrophil chemotaxis
103
Deficiency of C1 esterase inhibitor Deficiency of C3 Deficiency of MAC Deficiency of DAF
1) Def C1 esterase inhibitor - Hereditary angioedema - Elevated bradykinin - Never take ACE inhibitor, also increase bradykinin levels 2) Def C3 - Recurrent pyogenic sinus infections and resp tract infections - encapsulated organisms - Strep pneu, Haemophilus influ - Increased sensitivity to type II infections 3) Neisseria bactermia susceptible 4) Def in DAF (CD55) - Protect self form spontaneous complement activation through alternative pathway - Paroxysmal noctural hemogobinuria (PNH)
104
Macrophages secrete
IL-1, IL-6, TNF-alpha (acute phase) | IL-12
105
Neutrophils chemotactic agents
IL-8 C5a Leukotriene B 4
106
Differential diagnosis Eosinophilia pneuonic
CANADA P Collagen vascular disease (PAN, dermatomyositis) Atopic disease (allergies, asthma) Neoplasm Adrenal insufficiency (addison dis) Drugs (NSAIDS, penicillins, cephalosporins) Acute interstitial nephritis Parasites (stronglyloides, ascaris) HIV Hyper igE coccidioidomycosis
107
Recurrent candida infections and respiratory infections Diarrhea Failure to thrive No thymus seen on imaging - deficiency - decrease in
Severe combined immunodeficiency (SCID) Decrease B and T cells Adenosine deaminase deficiency
108
6 month old boy Recurrent bacterial infections Low immunoglobulins - defect - inheritence
Bruton agammaglobulinemia Defective tyrosine kinase X linked
109
Cant follow object Talangiectasias of face Recurrent infections clinical (2) sensitive (2) risk (2) elevated
Ataxia-telangiectasia IgA deficiency T cell deficiency ``` Cerebellar ataxia Telangiectasias after 5 y.o Radiation sensitivity (avoid x ray) Increased risk: lymphoma leukemia -Elevated AFP (8 months) ``` ``` "ATAXIA" Ataxia Telangiectasia, tracking eye difficulties Acute leukemia and lymphoma Xray sensitivity IgA deficiency AFP ```
110
Wiskott-Aldrich syndrome mneumonic
``` WAITER Wiskott Aldrich Immunodeficiency Thrombocytopenia and purpura Eczema Recurrent pyogenic infections ``` X linked Low IgM, high IgA
111
1) Defect tyrosine kinase 2) Elevated AFP 3) Adenosine deaminase deficiency 4) Low IgM, high IgA 5) Lack NADPH oxidase 6) Defect LYST gene 7) STAT3 mutation 8) Abnormal integrins 9) Two rows of teeth 10) Delayed separation umbilical cord
1) Bruton agammaglobulinemai 2) Ataxia-telangiectasia 3) SCID 4) Wiskott-Aldrich sydrnome 5) Chronic granulomatous disease (CGD) 6) Chediak-Higashi sydnrome 7) Hyper IgE syndrome (Job syn) 8) Leukocyte adhesion deficiency 9) Hyper IgE syndrome (Job syn) 10) Leukocyte adhesion deficiency
112
Giant cytoplasmic granules in PMN Partial albinism Recurrent respiratory tract and skin infections Neurologic disorders
Chediak- Higashi syndrome LYST gene defect (lysosomal transport) Defective phagocyte lysosomes
113
``` High level IgE and eosinophils Eczema Recurrent cold S. aureus abscesses Coarse facial features Two rows teeth ```
Hyper IgE syndrome STAT3 signaling protein mutation Impaired differentiation of TH12 Impaired recruitment of neutrophils
114
Large phagosomal vesicles with neutrophils
Chediak=Higashi disease
115
Infantile flaccid paralysis
Most infants die before 1 year AR Werdnig-hoffman Death of neuron in the anterior horn of Spinal cord
116
``` Rapidly progessive weakness Muscle atrophy Fascicultations Spasticity Difficulty speaking and swallowing ``` - Defect - Tx
ALS Superoxide dismutase 1 Riluzole - lengthens survival - decrease glutamate release
117
Involuntary flailing of one arm
Hemiballismus Subthalamic nucleus
118
Parkinson effect on NT
Loss of dopamine
119
Huntington effect on NT
Excessive excitation by glutamate --> death of neurons Increase dopamine Decrease GABA Decrease ACh
120
Pyruvate kinase deficiency
Pyruvate kinase needed to convert phosphoenolpyruvate to pyruvate, resulting in generation of ATP Deficiency means less ATP, less gradient Disruption of RBC membrane Splenic red pulp hyperplasia to remove RBCs Splenomegaly
121
Heteroplasmy
condition of having different mitochondrial genomes
122
Posterior duodenal wall ulcer erodes into
Gastroduodenal artery
123
Hepatoduodenal ligament contains
Common bile duct Hepatic artery Portal vein
124
Emybryonic origin of each 1) Anterior pituitary 2) Posterior pituitary 3) Parotid glands 4) Sublingual glands 5) Sclera 6) Lens 7) Retina 8) Mammary glands 9) Sweat glands
1) Anterior pituitary= surface ectoderm 2) Posterior pituitary= neural tube 3) Parotid glands= surface ectoderm 4) Sublingual glands= endoderm 5) Sclera= neural crest 6) Lens= surface ectoderm 7) Retina= Neural tube 8) Mammary glands= surface ectoderm 9) Sweat glands= surface ectoderm
125
Post translational modifications of proteins and proteoglycans in golgi apparatus
1) GLycosylation of core proteins to form proteoglycans 2) Sulfation of proteoglycans and selected tyrosine residues 3) Add O-oligosaccharides to serine and threonine residues 4) Adds mannose-6-phosphate to asparagine residues located on lysosomal enzymes
126
``` Corneal clouding coarse facies hepatosplenomegaly skeletal abnormalities restricted joint movement ```
I cell disease Deficiency of mannose phosphorylation No mannose-6-phosphate to target lysosomal proteins Secreted out of cell instead of into lysosomes
127
Which arachidonic acid product causes each of the following effects 1) Increased bronchial tone 2) Increased platelet aggregation 3) Decreased platelet aggregation 4) Increased uterine tone 5) Decreased uterine tone 6) Increased vascular tone 7) Decreased vascular tone
1) LTD4, LTE4, LTC4 2) TXA A2 3) PGL2 4) PGE2, PGF2alpha 5) PGI2 6) TXA A2 7) PGI2, PGE1
128
Damaged in Guillain-Barre syndrome CSF changes Classic manifestations
Schwann cell Normal cell count Increase protein Symmetric ascending muscle weakness Bilateral facial paralysis (palsy) Preceded by infection No sensory loss
129
Holoproencephaly - conditions - mutation
Trisomy 13 patau Fetal alcohol SHH mutation
130
Enlarged posterior fossa Cerebellar vermis fails to develop Dilation of 4th ventricle
Dandy Walker
131
Brocas
Language production Understand Cant talk
132
Wernicke's area
Comprehension of language Can talk in sentences Doesnt make sense
133
Nystagmus Ataxia Encephalopathy Amnesia
Wernicke-Korsakoff syndrome ``` Thiamine deficiency (Vit B) - alcoholics ``` Mamillary body lesion
134
Merkel corpuscle - adaption - sensation - location
Slow Static pressure Superficial
135
Meissner corpuscle - adaption - sensation - location
Rapid Light tough Superficial
136
Ruffini - adaption - sensation - location - shape
Slow Pressure, position sense Deep Spindle shaped
137
Pacinian - adaption - sensation - location - shape
Rapid Vibration Deep Onion-shaped
138
``` Abrupt onset of pain HA at the eyebrow Colored halos Rainbows of light Red teary eye, hazy cornea, fixed Mid dilated pupil (not reactive to light) Firm to palpation ```
Acute angle-closure glaucoma Lens against iris
139
Acute otitis externa organisms
S. aureus | Pseudomonas aeruginosa
140
Acute otitis media organisms
S. pneumonia Nontypable Haemophilius influenzae M. Catrrhalis
141
Awake (open) Awake (closed) Non-REM stages REM stages
Awake (open): beta waves Awake (closed): alpha Stage N1: Theta waves Stage N2: Sleep spindles and K complexes - Bruxism (teeth grinding) Stage N3: Delta waves - Sleepwalking, night terror, bedwetting (enuresis) REM: Beta waves
142
Upper motor neuron lesion classic signs LMN classic signs
UMN - Spastic paralysis - Hyperreflexia LMN - Flaccid paralysis - Hyporeflexia - Atrophy - Fasciculations
143
Gastrin secreted by Secretion stimulated by
G cells of antrum Phenylalanine Tryptophan Calcium
144
A 54 y.o male presents with abdominal pain, diarrhea, bilateral lower extremity edema and 5 lb weight loss over last 3 months. An esophagogastroduodenoscopy is performed and cerebriform rugae are observed throughout the body of the stomach. A biopsy of the region shows an abundance of mucous cells forming glands in the shape of corkscrews, but very few parietal and chief cells. most likely diagnosis is - increased risk of 5 things
Menetrier disease Gastric adenocarcinoma 1. Hypertrophy of mucous producing cells, rugae of stomach hypertrophy look like gyri 2. Atrophy of parietal cells 3. Decrease gastric acid production 4. Enteric protein loss --> hypoalbuminemia --> edema 5. Increase risk of gastric adenocarcinoma
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What enzymes do obligate anaerobes lack
Catalse | Superoxide dismutase
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Stimulates gallbladder contraction Faciliates pancreatic HCO3 secretion Increase insulin release Inhibits secretion of all GI hormones Relaxes smooth muscle and sphincter through out GI Produces peristaltic waves
Cholecystokinin (CKK) - I cells - Gall bladder contraction, decrease gastric emptying, increase pancreatic secretion Secretin - S cells - Neutralize gastric acid - Decrease gastric acid production Gastric inhibitory peptide (GIP) - K cells - Decrease gastric acid production - Increase insulin release Somatostatin - D cells in GI tract - delta cells in pancreas Vasoactive intestinal peptide (VIP) - Relaxes smooth m and sphincter - Increase secretion of electrolytes and water - Copious watery diarrhea Motillin
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Location of absorption Iron Folate Vit B12
Duodenum Duodenum and jejunum Terminal ileum
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``` Deficiency ApoB-48, ApoB-100 Malabsorptive Steatorrhea Failure to thrive Ataxia acanthocyes "spur cell" on microscope Lipid-laden enterocytes ``` - inheritence - mutation - missing - later manifestations - tx
Abetalipoproteinemia AR Mutation in gene that encodes for microsomal transfer protein (MTP) Chylomicrons, VLDL and LDL absent Retinitis pigmentosa progressive ataxia acanthocytosis Restriction of long chain fatty acids Large doses oral Vit E
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``` Defective ApoB-100 Increased LDL, cholesterol, VLDL Premature atherosclerosis Tendon xanthomas Xanthelasmas ```
Familial hypercholesterolemia - AD - Absent LDL receptors Defective LDL particle uptake by hepatocytes
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``` Deficiency ApoC-2 Increased chylomicrons Acute pancreatitis Lipemia retinalis Eruptive xanthomas ```
Familial chylomicronemia AR Creamy white retinal blood vessels Localized lipid deposits in skin, red bumps
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Deficiency ApoE Premature atherosclerosis Lipid droplets in palms of hand Lipid laden macrophages What is impaired
Familial dysbetalipoprotenemia Chylomicron remnant uptake by liver cells Increase chylomicron and VLDL remnants
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Gardner syndrome (4)
Familial adenomatous polyposis Bone and soft tissue tumors Lipomas Retinal hyperplasia
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Ventral pancreatic bud --> Dorsal pancreatic bud -->
Ventral --> uncinate process, part of head of pancreas, proximal portion of main pancreatic duct Dorsal --> Body and tail, most of head (superior aspect) , small accessory pancreatic duct
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Painless jaundice -markers
Pancreatic adenocarcinoma CD19-9 CEA
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What allows bilirubin to be taken out of blood
UDP-glucuronyl transferase
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A healthy 25 y.o man comes in to routine examination. His lab tests show a serum bilirubin level of 4 mg/dL and a direct bilirubin of 0.3 mg/dL. Liver fxn tests are nromal. Which of hte following explains the serum and indirect bilirubin levels ``` (A) Extrahepatic biliary obstruction (B) Glucuronosyltransferase defi ciency (C) Heme oxygenase defi ciency (D) Intrahepatic biliary obstruction (E) Liver cell damage ```
B. Glucuronosyltransferase deficiency Gilbert
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New born presents with kernicterus, jaundice adn elevation of serum unconjugated bilirubin. Patient dies after 1st birthday. Most likely had a deficiency of?
Uridine diphosphate-glucuronsltransferase Crigler-Najjar tyep I
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``` Cirrhosis Diabetes Hyperpigmentation CHF Testicular atrophy ```
"Bronze diabetes" Hemochromatosis INcreased risk of HCC AR disease - HFE gene --> makes hepcidin Increased ferritin
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ANA | anti-smooth muscle Ab
Autoimmune hepatitis | Type 1
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Anti-liver-kidney microsomal Ab | Anti-liver cytosol antibody
Autoimmune hepatitis | Type 2
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Beads on a string + pANCA - due to - tx
Primary sclerosing cholangitis (PSC) COncentric fibrosis of bile ducts liver transplant
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25. A 46-year-old white woman with rheumatoid arthritis presents with severe pruritus. She denies any history of alcohol or drug use. On physical examination, she is found to have icteric sclera, palpebral xanthomas, and hepatomegaly. She tests positive for antimitochondrial antibody and increased alkaline phosphatase activity. Which of the following is most likely responsible for this patient’s presentation? (A) Destruction of intrahepatic bile ducts (B) Hepatic parenchymal destruction (C) Obstruction of extrahepatic bile ducts (D) Portal vein thrombosis (E) Stenosis of extrahepatic and intrahepatic bile ducts
(A) Destruction of intrahepatic bile ducts The triad of jaundice (icteric sclera), hypercholesterolemia (palpebral xanthomas), and pruritus with positive antimitochondrial antibody titers and elevated alkaline phosphatase activity is classic for primary biliary cirrhosis. Primary biliary cirrhosis is a cholestatic disease with chronic, progressive, and often fatal liver injury characterized by the destruction of medium-sized intrahepatic bile ducts with eventual liver failure. Liver transplantation is the definitive treatment.
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Beta 2 stimulation
INcrease radius | Decrease resistance
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Defects in DNA mismatch repair
Lynch syndrome increased risk of hereditary non-polyposis colorectal cancer (HNPCC)
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Manic vs hypomanic
Manic - severe - 1 week - May have psychotic features Hypomanic - >= 4 consecutive days
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Failure to thrive Developmental delay Cant lift head Orotic acid crystals Supplementation of what is needed?
Hereditary orotic aciduria - AR - disorder of pyrimidine synthesis - defect in uridine 5- monophosphate (UMP) synthase Supplement Uridine
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1) Linear IgG and C3 deposits on IF microscopy 2) Glomerular basement membrane splitting 3) Glomerular basement fibrin deposition 4) Subepithelial humps on electron microscopy 5) Diffuse capillary wall thickening on light microscopy 6) Glomerular crescents on LM 7) C3 granular straining along GBM
1) Anti-GBM disease 2) Membranoproliferative glomerulonephritis (MPGN) and Alport syndrome 3) Rapidly progressive glomerulonephritis (anti-gbm) 4) Poststreptococcal glomerulonephritis 5) Membranous glomerulopathy 6) Rapidly progressive glomerulonephritis, Anti- GBM disease 7) Poststreptococcal glomerulonephritis
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(+) for synaptophysin Chromogranin neuron-specific enolase
Small cell carcinoma of the lung | Carcinoid tumor
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What can you suffer from if to quick nitroprusside infusion tx
cyanide toxicity tx sulfur
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``` Lethary confusion Persistent atrial fibrillation CHF Nauseas and decreased appetitie, vomiting Vision difficulties ``` Hyperkalemic
Digoxin toxicity
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RB mutation BRAF HER2 KRAS RET
RB: Retinoblastoma, osteosarcoma BRAF: Hairy cell luekemia, melanoma HER2: breast cancer KRAS: colorectal cancer, non-small cell lung cancer RET: MEN2
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What can not be metabolized to pyruvate and cause more lactic acid if pyruvate dehydrogenase deficiency
Lysine Leucine Ketogenic AA
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Branches of deep external pudendal artery supply the External iilac vein receives drainage from Left colic artery branches off, supplies The superior vesical artery supplies
Supply the scrotum and labia majora External iliac vein receives drainage from the inferior epigastric and deep circumflex iliac veins, serve the anterior abdominal wall and iliac crest respectively Branches of inferior mesenteric a. to supply the transverse and descending colon portions of the urinary bladder and ductus deferens
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Vit B12 deficiency Type 1 DM Hashimoto thyroiditis
Pernicious anemia CD4 mediated immune response against parietal cells Loss of parietal cells mass - decrease in intrinsic factor - decreased secretion of hydrochloric acid Elevated pH that stimulates gastrin secretion
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Vomiting/ nausea due to
``` GI irritation (infections chemotherapy, distention) - increase serotonin release and activation of 5HT ``` ``` Central nausea (migraines) - use dopamine receptor antagonist to stop ``` Vestibular nausea - dopamine receptor stimulation and H1 stimulation - promethazine tx both
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Smokers have 5x the risk of esopahgeal carcinoma compared to non smokers (relative risk = 5.0, 95% CI 2.9-7.1) What percentage of SCC of the esophagus in smokers can be attributed to smoking?
Attributable risk percentage in exposed (ARP) ARP exposed= 100 x (risk in exposed - risk in unexposed)/ risk in exposed ARP= 100 x [(RR-1)/ RR] ARP= 100 x [(5-1)/5]= 80%
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Multiple ulcers Mucosal erosions Large cells iwth basophili cintranuclear and intracytoplasmic inclusions
CMV | herpesvirus
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``` Action potential conduction velocity Point 1- 0.05 Point 2 - 0.3 Point 3- 1.1 Point 4- 2.2 ``` Points correspond to what location
AV node Ventricular muscle Atrial muscle Purkinje system
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``` Pleuritic chest pain SOB Cough Tachypnea Tachycardia Low grade fever ``` Elevated D dimer Normal CXR Large A-a gradient ECG?
Pulmonary embolism (PE) ECG S1Q3T3 - deep S in lead I - large Q and inverted T in lead III
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S1Q3T3 ECG
Pulmonary embolism
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What disease is associated with the Ab 1) Anti- mitochondrial 2) Anti- neutrophil cytoplasmic 3) Antiplatelet Ab
1) anti-mitochondrial Primary biliary cholangitis 2) Anti-neutrophil cytoplasmic cANCA - granulomatosis w/ polyangiitis pANCA - Eosinophilic granulomatosis with pollyangiitis (churg-strauss) - Microscopic polyangiitis - Pauci-immune crescentric glomerulonephritis - primary sclerosing cholangitis - ulcerative collitis 3) Immune thrombocytopenic purpura (ITP)
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``` Developmental delay Difficulty seeing board Tall, thin habitus Elongated limbs Lens subluxation Thrombus and infarct ``` Supplement?
Homocystinuria Error of methionine metabolism AR deficiency cystathionine beta-synthase that requires pyridoxine (Vit B6) as cofactor
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A 6-year-old girl is found to be nearsighted during a vision screening at school, and the school nurse tells the parents the child should be fi tted for corrective lenses. Her mother is upset because her daughter is already much taller than her classmates, has an awkward gait, and was recently diagnosed with scoliosis. She is afraid that the glasses will only add to her daughter’s problems at school, where her classmates frequently tease her. When the ophthalmologist observes that the patient’s right lens is dislocated, he suspects that her symptoms are in fact related to an enzyme defi ciency. As a result of this defi ciency, which of the following amino acids is essential in this patient’s diet? (A) Cysteine (B) Lysine (C) Methionine (D) Tryptophan (E) Tyrosine
The correct answer is A. Homocystinuria is an inborn error of metabolism caused by a defect in cystathionine synthase, the enzyme that converts homocysteine to cystathionine. Cystathionine is later converted to cysteine, so patients with this enzyme defi ciency are required to supplement their diets with exogenous cysteine. In addition to marfanlike features and subluxation of the lens, these patients are at increased risk of a variety of cardiovascular derangements, includin
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Skin lesion on eyelid ma Lipid laden macrophages Assoc with
Xanthelasma Associated iwth primary or secondary hyperlipidemias - Primary biliary cirrhosis
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What mutation 1) Lung adenocarcinoma 2) CML, ALL 3) Follicular lymphoma 4) non-hodgkin lymphoma 5) Neuroblastoma 6) Melanoma 7) MEN 2A and 2B 8) Colorectal cancer assoc w/ FAP 9) Hairy cell leukemia 10) Osteosarcoma 11) Li-Fraumeni 12) Tuberous sclerosis 13) Burkitt lymphoma 14) Colon cancer 15) Diffuse large B cell lymphoma
1) ALK 2) BCR-ABL 3) BCL-2 4) BRAF 5) n-myc 6) BRAF, CDKN2A 7) RET 8) APC 9) BRAF 10) Rb 11) TP53 12) TSC1/2 13) c-MYC 14) KRAS 15) BCL-2
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p-ANCA - Ag - Ab c-ANCA - Ag - Ab
p-ANCA - Myeloperoxidase (MPO) - MPO-ANCA c-ANCA - Proteinase 3 (PR3) - PR3-ANCA
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Necrotizing vasculitis of lungs kidneys skin Crescentic GN Palpable purpura + p-ANCA Doesnt have
Microscopic polyangiitis No naropharyngeal involvement
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``` Port wine stain Intellectual disability Hemiplegia Calcification of outer boarder of brain Also see ```
Sturge-Weber disease - affects capillaries Seizures Early onset glaucoma Hemiplegia (paralysis one side body) Leptomeningeal angioma
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Cohort study gives
Relative risk | A/A+B) / (C/ C+D
190
Attributable risk (AR) equation
AR= incidence disease (exposed) - incidence of disease (unexposed) AR= (A/ A+B) - (C/C+D)
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Odds ratio
(A/B)/ (C/D)
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Relative risk
Probability to getting disease in exposed group compared to unexposed group (A/A+B) / (C/C+D)
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Absolute risk reduction (ARR)
(C/C+D) - (A/A+B)
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Number needed to harm
1/ AR AR= (A/ A+B) - (C/C+D)
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Number needed to treat (NNT)
NNT= 1/ ARR ARR= (C/C+D) - (A/A+B)
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Orotic acid in urine + elevated serum ammonia - inheritence - causes
Ornithine transcarbamylace deficiency X linked recessive Excess carbamoyl phosphate --> orotic acid Hyperammonemia Decreased BUN No megaloblastic anemia
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Orotic acid in urine + normal serum ammonia - deficency - inheritence - feature seen - tx
Orotic aciduria Deficiency of UMP synthase AR Megaloblastic anemia Tx: Uridine supplementation
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Developmental milestones 3 m 6 m 9 m 12 mo
3 mo 3= before everything else - roll - hands together - laugh and squeal - smile 6 mo "Six= S's" - Sit up - Switch objects between hands - Shmooze - Self feed - Stranger danger 9 mo "9= P's (9 in penis) - Pull itself (crawl) - Pincer grasp - Papa - play - permance (object) 12mo "TWELVE= T's" - Two legs (stand, walk) - Track ( object tracking), block in a cup - 2 words - 2 of use (separation anxiety) - drink from cup
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Muscle biopsy on patient reveals elevated glycogen levels, elevated fructose-6- phosphate, and decreased pyruvate. What enzyme is deficient?
Phosphofructokinase-1 deficiency
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Rate limiting enzymes 1) De novo pyrimidine synthesis 2) De novo purine synthesis 3) Glycolysis 4) Gluconeogenesis 5) Glycogen synthesis 6) Glycogenolysis 7) TCA cycle 8) Hexose monophosphate shunt
1) carbamoyl phosphate synthetase-2 2) glutamine PRPP amidotransferase 3) Phosphofructokinase -1 4) Fructose-1,6- bisphosphatase 5) Glycogen synthase 6) Glycogen phosphorylase 7) isocitrate dehydrogenase 8) glucose-6-phosphate dehydrogenase
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4 | McArdle disease
Deficiency in glycogen phosphorylase
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What glycogen storage disease matches 1) Glycogen phosphorylase deficiency 2) Glucose-6-phosphatase deficiency 3) Lactic acidosis, hyperlipidemia, hyperuricemia (gout) 4) Alpha -1,6- glucosidase deficiency 5) alpha-1,4- glucosidase deficiency 6) Cardiomegaly 7) Diaphragm weakness leading to respiratory failure 8) Increased glycogen in liver, severe fasting hypoglycemia 9) Hepatomegaly, hypoglycemia, hyperlipidemia (normal kidneys, lactate, and uric acid) 10) Painful muscle cramps, myoglobinuria with strenuous exercise 11) Severe hepatosplenomegaly, enlarged kidneys
1) McArdle 2) Von Gierke 3) Von Gierke 4) Cori disease 5) Pompe 6) Pompe 7) Pompe 8) Von Gierke 9) Cori 10) McArdle 11) Von Gierke
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Infantile cataracts galactosuria galactosemia
Galactokinse deficiency Deficiency of galactokinase Accumulation of galactito
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``` Infantile cataracts Failure ot thrive Jaundice Hepatomegaly Intellectual disability ```
Classic galactosemia Deficiency of galactose-1-phosphate uridyltransferase Excess Galactose-1- phosphate Excess Galactose Excess Galactitol
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Apo Proteins 1) Apo-B-48 2) Apo-B-100 3) ApoE 4) ApoA-I 5) ApoC-II
1) Helps release of chylomicrons from enterocytes - Without you get abetalipoprotinemia 2) Helps VLDL secretion into circulation from liver 3) Mediates extra remnant uptake 4) Activates LCAT, found on HDL 5) Cofactor for lipoprotein lipase
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Abetalipoproteinemia - ineritence - deficency - mutation - lipoproteins - signs - intestinal biopsy - peripheral smear
AR Decrease ApoB-48 and ApoB-100 Mutation MTP gene Decrease chylomicron adn VLDL synthesis and secretion Steatorrhea Ataxia Night blindness Enterocytes swollen with TGs Acanthocytosis of RBC - Misshaped and spiky
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Which apolipoprotein 1) Activates LCAT 2) Mediates chylomicron secretion 3) Mediates VLDL secretion 4) Cofactor for lipoprotein lipase 5) Mediates uptaek of remnant particles
1) ApoA-1 2) ApoB-48 3) ApoB-100 4) ApoC-11 5) ApoE
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8 | PKU
Deficiency of phenylalanine hydroxylase Deficiency BH4 Musty odor Intellectual disability Light skin Seizure
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Precursor for 1) Arginine 2) Tryptophan 3) Histidine 4) Glutamate 5) Glycine
1) Arginine --> Creatine Urea Nitric oxide 2) Tryptophan Niacin --> NAD/NADP (req B6) Serotonin --> Melatonin 3) Histidine --> Histamine (req B6) 4) Glutamate --> GABA (Req B6) Glutathione 5) Glycine --> Porphyrin (Req B6) --> Heme
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A 9-month-old boy is brought to the emergency department after his mother is unable to rouse him. His past medical history is signifi cant for the onset of seizures at the age of 4 months and for a delay in reaching developmental milestones. On examination, the patient is found to have poor muscle tone and an enlarged liver. Laboratory studies show a blood urea nitrogen level of 3.2 mg/dL, a creatinine level of 0.4 mg/ dL, and a serum ammonia level of 300 mg/dL. A plasma amino acid analysis fails to detect citrulline, while his urinary orotic acid level is increased. This patient suffers from a defi ciency of which of the following enzymes? (A) Argininosuccinate lyase (B) Carbamoyl phosphate synthetase II (C) Glutamate dehydrogenase (D) Ornithine transcarbamoylase
D. Ornithine trasncarbamoylase
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What goes with there 1) homogentisic acid oxidase deficency 2) Alpha ketoacid dehydrogenase def 3) Tyrosine def 4) Decreased tryptophan 5) Phenylalanine hydroxylase def 6) Cystathionine synthase def 7) B6 def 8) COLA def 9) Tetrahydrobiopterin def 10) Decreased Niacin 11) Sweet smelling urine 12) Musty smell 13) Dark urine 14) Increased skin cancer 15) Lens dislocation 16) Cystine stones
1) Alkaptonuria 2) Maple syrup urine 3) Albinism 4) Hartnup 5) PKU 6) Homocystinuria 7) Homocystinuria 8) Cystinuria 9) PKU 10) Hartnup 11) Maple syrup urine 12) pKU 13) Alkaptonuria 14) Albinism 15) Homocystinuria 16) Cystinuria
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Beriberi Dry vs wet
Thiamine deficiency ``` Dry Beriberi - peripheral neuropathy (toe drop, wrist drop, foot drop) - Muscle weakness - Hyporeflexia or areflexia ``` Wet Beriberi - Peripheral vasodilation - High output heart failure - peripheral edema - cardiomegaly

AM- STEP1 (20 decks)

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