DIT Rapid-Fire Facts Flashcards
Most common cause of congenital malformations in the US
Alcohol use during pregnancy
Most common cause of neural tube defects
Folate deficiency
*most common vitamin deficiency in the US
Most common cause of congenital mental retardation in US
Fetal Alcohol Syndrome
Hyperflexible joints, arachnodactyly, aortic dissection, lens discoloration
Marfan Syndrome
-defect in fibrillin (scaffold for elastin)
Hereditary nephritis, cataracts, sensorineural hearing loss
Alport syndrome
-defect in Type IV collagen (BM)
Unilateral facial drooping involving the forehead
Bell’s palsy
Ptosis, miosis, anhidrosis
Horner’s syndrome
“Worst headache of my life”
Subarachnoid hemorrhage
Lucid interval following head trauma
Epidural hematoma
Bloody CSF on LP
Subarachnoid hemorrhage
Most common cause of subdural hematoma
Rupture of bridging veins
Most common cause of epidural hematoma
Rupture of middle meningeal artery
Toe extension upon stimulating the sole of the foot with a blunt instrument
Babinski sign
Hyperreflexia, increased muscle tone, positive Babinski sign
UMN Lesion
Hyporeflexia, decreased muscle tone, muscle atrophy
LMN lesion
Depigmentation of the substantia nigra
Parkinson’s disease
Chorea, dementia, atrophy of caudate and putamen
Huntington’s disease
Eosinophilia inclusions of cytoplasm of neurons
Levy bodies
- Parkinson’s disease
- Lewy body dementia
Conjugate lateral gaze palsy, with nystagmus and diplopia during lateral gaze
Internuclear opthalmoplegia
-occurs with multiple sclerosis
Degeneration of the dorsal columns
Tabes dorsalis
-Tertiary syphilis
Demyelinating disease in young women
Multiple sclerosis
Mixed upper and lower motor neuron disease
Amyotrophic Lateral Sclerosis
Newborn with arm paralysis following difficult labor
Erb palsy
Pupil that accommodates but doesn’t react to light
Argyll-Robertson pupil
Most common cause of dementia
Alzheimer’s
Second most common cause of dementia
Multi-infarct dementia
Extracellular amyloid deposits in grey matter
Senile plaques - Alzheimer’s
Intracellular deposits of hyperphosphorylated tau protein
Neurofibrillary tangles - Alzheimer’s
Intracellular spherical aggregates of tau protein, seen on silver stain
Pick bodies - Pick’s disease
Treatment for absence seizures
Ethosuximide
Treatment for tonic-colonic seizures
Phenytoin, Valproic acid, Carbamazepine
Amyloid deposits in the gray matter of the brain
Alzheimer’s disease
Drooling farmer
Organophosphate poisoning
Inability to breast feed, amenorrhea, cold intolerance, secondary hypothyroidism
Sheehan’s syndrome
Infertility, galactorrhea, bitemporal hemianopsia
Prolactinoma/ Pituitary adenoma
Most common causes of Cushing syndrome
- Exogenous cortisol
- Ectopic ACTH
- ACTH-secreting pituitary adenoma (Cushing Disease)
- Cortisol secreting Adrenal adenoma
Most common tumor of adrenal gland
Benign adrenal adenoma
Most common tumor of adrenal medulla in adults
Pheochromocytoma
Most common tumor of adrenal medulla in kids
Neuroblastoma
Most common cause of primary hyperaldosteronism
Adrenal adenoma
Medical treatment for hyperaldosteronism
Spironolactone (K+ sparing diuretic, acts as an aldosterone antagonist)
Medical treatment for pheochromocytoma
Irreversible a-antagonist: phenoxybenzamine, phentolamine + B-blocker
*DO NOT give B-blocker alone bc will worsen HTN
Pheochromocytoma, medullary thyroid cancer, parathyroid hyperplasia (hyperparathyroidism)
MEN 2A
Pheochromocytoma, medullary thyroid cancer, mucosal neuromas
MEN 2B
Adrenal disease associated with skin pigmentation
Addison’s disease
HTN, Hypokalemia, Metabolic alkalosis, Low plasma renin
Primary Hyperaldosteronism (Conn’s Syndrome)
Most common thyroid cancer
Papillary carcinoma
Cold intolerance
Hypothyroidism
Enlarged thyroid cells with ground-glass nuclei
Papillary thyroid carcinoma
-Orphan-Annie eye nuclei
Amyloid deposits in gray matter of the brain
Alzheimer’s disease senile plaques
Drooling farmer
Organophosphate poisoning/ Cholinergic toxicity
Standard treatment for DKA
IV Fluids, IV Insulin, K+ replacement
Standard treatment for Type I DM
Insulin, low sugar diet
Standard treatment for Type II DM
Oral hypoglycemics, probably insulin, low sugar diet, weight loss
Most common cause of hypercalcemia
Primary hyperparathyroidism
Most common cause of primary hyperparathyroidism
Parathyroid adenoma
Most common cause of secondary hyperparathyroidism
Chronic renal failure –> hypocalcemia
Most common cause of hypoparathyroidism
Accidental removal during thyroidectomy
Facial spasm when tapping on the cheek
Chvostek sign
Parathyroid, pancreatic, pituitary tumors
MEN 1
Dysphagia, glossitis, iron deficiency anemia
Plummer-Vinson Syndrome
Hematemesis with retching
Mallory-Weiss Syndrome
Mucin-filled cell with a peripheral nucleus
Signet ring cell
Most common type of stomach cancer
Adenocarcinoma
Ovarian metastasis from gastric cancer
Krukenburg tumor
Gastric ulceration and high gastrin levels
Zollinger-Ellison Syndrome
Acute gastric ulcer associated with elevated ICP or head trauma
Cushing ulcer
Acute gastric ulcer associated with severe burns
Curling ulcer
Pancreatic jaundice
Pancreatic cancer
-esp of head of pancreas
Most common cause of acute pancreatitis
Gallstones, Alcohol
Most common cause of chronic pancreatitis
Alcohol abuse
Weight loss, diarrhea, arthritis, fever, adenopathy, hyperpigmentation
Whipple disease
Anti-transglutaminase/ Anti-gliadin / Anti-endomysial antibodies
Celiac sprue
Vitamin given to pregnant women to prevent neural tube defects
Folate
Triglyceride accumulation in hepatocytes
Fatty Liver Disease
Eosinophilic inclusions in the cytoplasm of hepatocytes
Mallory Bodies- Alcoholic Hepatitis
Cancer closely linked to cirrhosis
Hepatocellular carcinoma
Severe hyperbilirubinemia in a neonate
Crigler-Najjar-I
Mild, benign hyperbilirubinemia
Gilbert Syndrome
Hepatomegaly, abdominal pain, ascites
Budd-Chiari Syndrome
NO JVD
Green/yellow corneal deposits
Wilson’s disease
Low serum ceruloplasmin
Wilson’s disease
Cirrhosis, diabetes, hyperpigmentation
Hemochromatosis
Treatment for chronic hepatitis
IFN-a
Most common cancer of the appendix
Carcinoid tumor
Most common surgical emergency
Appendicitis
GI hamartomas, hyperpigmentation of the mouth and hands
Peutz-Jeghers Syndrome
Multiple colon polyps, osteomas, soft tissue tumors
Gardner Syndrome
Severe RLQ pain with rebound tenderness
Appendicitis; McBurney’s sign
“Apple core” lesion on barium enema
Colorectal carcinoma
Corneal clouding, coarse facies, HSM, skeletal abnormalities,restricted joint movement +/- mental retardation
I- cell disease
Deficiency in phosphotransferase –> deficiency in M6P
Nuclear localization sequence is rich in which AAs
Lysine, Arginine, Proline
NLS is necessary for protein entry into nucleus
Mutation in Nuclear Lamins leads to
Progeria
Muscular dystrophy
Bronchiectasis, recurrent sinus infections, infertility, situs inversus
Kartagener syndrome
-defect in dyenin arm leads to immobile cilia
PDGF, Growth factors, Insulin, Insulin-GF act on what receptor
Tyrosine kinase receptor
- bind Extracellular ligand, conformation change, intracellular domain transfers phosphate group from ATP to selected tyrosine side chains
- autophosphorylation is 1st step in signaling cascade that uses this receptor
What are the two most abundant substances in plasma membranes
Cholesterol, Phospholipids
Labile cells
Bone marrow, gut epithelium, skin, hair follicles, germ cells
-constantly regenerate therefore G0 is absent and G1 is short
What are the mechanisms of cell injury
- ATP depletion
- Mitochondrial damage
- Ca2+ influx
- Accumulation of oxygen free radicals
Enzymes that handle oxygen free radicals
Superoxide dismutase, Catalase, Glutathione peroxidase
Elevated ESR
- Polymyalgia rheumatica
- Temporal arteritis
- Disease activity in RA and SLE
- Infection, Inflammation i.e. Osteomyelitis
- Malignancy
Cell that generates fibrinogen and CRP
Hepatocyte
Metals that facilitate generation of oxygen free radicals
Iron, Copper
Blue sclera, multiple fractures with minimal trauma, hearing loss, dental imperfections, presentation can be confused with child abuse
Osteogenesis imperfecta
- Type I: AD, mutation in alpha chains of Type I collagen or mutation/defect in glycosylation of preprocollagen to form procollagen
- Type II: AR, mutation in Type II collagen, often die in utero
Joint instability, Hypermobile joints, Hyperextensible skin, vascular sx, organ rupture, berry aneurysm, aortic aneurysm, tendency to bleed
Ehlers-Danlos syndrome
- defect in collagen synthesis- typically Type I&III
- Type III collagen defect —> vascular sx, risk of organ rupture
- Type V collagen defect —> hyperextensible skin
Chediak-Higashi syndrome
Dysfunction in microtubule polymerization leads to defect in lysosomes and phage some formation
Lipofuscin granule
Result of free radical lipid peroxidation; brown pigmented residual body within cell
Amino acids modified in the Golgi apparatus
Serine, Threonine, Asparagine
Incr AFP
Anencephaly or abdominal wall defect
Main inhibitory NT in brain
GABA
-decr levels in Huntingon’s disease and Anxiety
Main inhibitory NT in SC
Glycine
Main excitatory NT in brain
Glutamate
NT levels in Anxiety disorder
Incr. NE
Decr. GABA, 5-HT
Principle NT in REM Sleep
ACh
Acetylcholinesterases used to treat Alzheimer’s
Donepezil, Galantamine, Rivastigmine
Group of genes responsible for skeletal development
HOX genes
Drugs used to treat urge incontinence
Oxybutinin, Tolteridine, Darifenacin, Solifenacin, Trospium
Substances that inhibit NE Reuptake
Cocaine, TCAs
Substances that stimulate NE release from neurons
Amphetamine, Ephedrine, Tyramine, Ca2+, ATII (maybe)
Pancreatic beta cells
Insulin
Pancreatic alpha cells
Glucagon
Pancreatic delta cells
Somatostatin
Estradiol
Ovaries
Estriol
Placenta
Estrone
Adipose tissue
Anterior pituitary hormones
GH, FSH, LH, ACTH, PRL, TSH
Posterior pituitary hormones
- Oxytocin: made in paraventricular nucleus of hypothalamus
- ADH/Vasopressin: made in supraoptic nucleus of hypothalamus
Hypothalamic hormones
TRH, CRH, GnRH, GHRH
Adrenal cortex- Zona Reticularis
Testosterone
Adrenal cortex- Zona Fasciculata
Glucocorticoids
Adrenal cortex- Zona Glomerulosa
Mineralocorticoids (aldosterone)
What are the side effects of glucocorticoid use
- Iatrogenic Cushing disease: moon facies, buffalo hump, truncal obesity, muscle wasting, easy bruising, thin skin
- Insomnia, Psychosis
- Acne, Glaucoma
- Osteporosis, Glucose intolerance/ Diabetes, Peptic ulcer
MEN 2A and 2B are associated with what gene mutation
Ret
Neuroblastoma is associated with what gene mutation
N-myc oncogene overexpression
What is the main synthetic mineralocorticoid given to stimulate aldosterone receptors in patients with Aldosterone deficiency
Fludrocortisone
Tumors that secrete EPO
- Pheochromocytoma
- Renal cell carcinoma
- Hemangioblastoma
- Hepatocellular carcinoma
Drug of choice for anaphylactic shock
Epinephrine
- b>a; a1, a2, b1, b2
Drug of choice for cardiogenic shock
Dobutamine
-b1>b2, a
Drug of choice for septic shock
Norepinephrine
-a1>a2>b1
What abnormalities are often found with an Arnold-Chiari malformation?
Syringomyelia, Myelomeningocele
Classic presenting symptoms of Syringomyelia
Bilateral loss of pain and temperature sensation in a cape-like distribution (C8-T1) in the upper extremities/ back
-severe cases that expand to involve the anterior horn –> weakness and atrophy of the muscles of the hand
Increased AFP
Anencephaly, Failure of abdominal wall to close, Hepatocellular carcinoma
Decreased AFP
Down syndrome
4 major dopaminergic pathways
- Mesocortical
- Mesolimbic
- Nigrostriatal
- Tuberoinfundibular
Blocking Mesocortical pathway
Incr. negative symptoms of psychosis
Blockage of Mesolimbic pathway
Relief of psychosis
-target of Dopamine antagonists
Blockage of Nigrostriatal pathway
Parkinsonism sx
Stimulation of Nigrostriatal pathway
Extrapyramidal symptoms
Blockage of Tuberoinfundibular pathway
Incr. release of Prolactin from pituitary –> Hypogonadism –> Amenorrhea in women, Decr. Libido, Gynecomastia, Galactorreha in men
Treatment of Prolactinoma
Dopamine agonist- Bromocriptine
Degeneration of basal nucleus of Meynert, decr. CNS ACh
Alzheimer’s disease
What are the thalamic nuclei
- Paraventricular
- Supraoptic
- Anterior
- Preoptic
- Suprachiasmatic
- Dorsomedial
- Posterior
- Lateral
- Mamillary
- Ventromedial
- Arcuate
Arcuate nucleus
Hypothalamic nucleus
-releasing hormones (CRH, GHRH, GnRH, TRH) affect anterior pituitary
Ventromedial nucleus
Hypothalamic nucleus
-satiety; stimulated by leptin
Lateral nucleus
Hypothalamic nucleus
-hunger; inhibited by leptin
Posterior
Hypothalamic nucleus
-hearing, sympathetic nervous system
Dorsomedial nucleus
Hypothalamic nucleus
- GI
- stimulation –> savage behavior, obesity
Suprachiasmatic
Hypothalamic nucleus
-circadian rhythm
Preoptic area
Hypothalamic nucleus
-GnRH
Anterior nucleus
Hypothalamic nucleus
-cooling, parasympathetic nervous system
Supraoptic nucleus
Hypothalamic nucleus
-makes ADH
Paraventricular nucleus
Hypothalamic nucleus
-Makes oxytocin
What secondary messenger do FSH, LH, ACTH, TSH use
cAMP
What secondary messenger does CRH use
cAMP
What secondary messenger do GHRH, TRH, GnRH, Oxytocin and ADH use
IP3
What molecules use cGMP as a secondary messenger
AMP, NO
What molecules act on tyrosine kinase receptors
Insulin, IGF-1, GH, PDGF, FGF, Cytokines, Prolactin
Decreases endocrine and exocrine secretion, reduces splanchnic blood flow, reduces gastric motility and gallbladder contraction, inhibits secretion of most gastrointestinal hormones
Somatostatin
What do LH, FSH, TSH and hCG have in common
a-subunit
Clinical features of acromegaly
- large hands and feet
- deep voice
- impaired glucose tolerance
- coarse facial features, large tongue, incr. spacing of teeth
Caused by Cystic fibrosis
Meconium ileus
Caused by adhesions
Small bowel obstruction
“Bulls eye” on ultrasound
Intussusception
Common in post op
Intestinal ileus
Currant jelly stool
Intussusception
GI pain out of proportion to exam
Ischemic colitis
Impaired defection with alternating diarrhea and constipation
Irritable bowel syndrome
Most common congenital anomaly of the GI tract
Meckel’s diverticulum
Diverticulum that contains 2 types of epithelium? What are those types?
Meckel’s diverticulum- pancreatic and gastric epithelium
Pneumatosis intestinalis
Necrotizing enterocolitis
AST > ALT
> 2:1
Alcoholic cirrhosis
Incr. GGT, Incr. ALP
Biliary tract disease
Incr. ALP
Bone formation, obstructive hepatobiliary disease, Hepatocellular carcinoma, bone disease
Budd-Chiari syndrome
Ascites, hepatomegaly, no JVD
Decr. Ceruloplasmin, kayser- fleischer rings
Wilson’s disease
Cirrhosis, Diabetes Mellitus, Skin pigmentation
Incr. Ferritin, decr. TIBC, incr. Transferring saturation
Hemochromatosis
a1-anti trypsin deficiency affects what organs
Liver –> Cirrhosis
Lungs –> Panacinar emphysema
Treatment of Wilson’s disease
Penicillinamine or Trientine
Treatment of Hemochromatosis
Repeated phlebotomy, deferasirox, deferoxamine
Charcot’s Triad of Cholangitis
Jaundice, Fever, Right upper quadrant pain
Reynold’s Pentad
Jaundice, Fever, RUQ pain, hypotension, altered mental status
+ Murphy sign
Inspiratory arrest on RUQ palpating d/t pain
-occurs with Cholecystitis
Fructose intolerance
Aldolase B deficiency
Essential Fructosuria
Fructokinase
Classic Galactosemia
Galactose-1-phosphotransferase
What structures run through the cavernous sinus
CN III, IV, V1, V2, VI