pathology Flashcards
which is the achalasia pathogenesis?
Loss of neurons in the myenteric plexus – failure of LES to relax
*Secondary: Chagas disease, extraesophageal mass
what is the defect of the potassium and sodium channel in long QT syndrome?
- Delayed closed of sodium channel
- Decrease activity of outward (delayed) rectifying potassium channel
Which is the thyroid disease that produce thyroid gland pain and self limited thyroid hormones alterations?
Subacute granulomatous thyroiditis (de
Quervain)——–Self-limited disease often following a flu-like illness (eg, viral infection).
- May be hyperthyroid early in course, followed by hypothyroidism.
Which is the explanation of sensory lost in Guillain sx?
GB syndrome–> Immune response against MYELIN due to molecular mimickry between the bug and myelin. (against gangliosides of myelin mostly)
Main characteristics of Alport syndrome?
- X linked recessive
- Hematuria, deafness and progressive renal failure
- mutation in collagen type IV
Malignant pigmented cells that involved which layer of skin, is associated with greater risk of unfavorable prognosis?
- subcutaneous tissue——–the deeper it goes the dangerous it is.
which are tha characteristics of Pemphigus vulgaris and Bullous pemphigoid?
Pemphigus vulgaris— IgG antibody against desmoglein (component ofdesmosomes, which connect keratinocytes in the stratum spinosum)– oral mucosa is also involved. Type II hypersensitivity reaction– nikolsky +.
- Bullous pemphigoid—-Involves IgG antibody against hemidesmosomes (epidermal
basement membrane—Nikolsky sign ⊝.
which is the main component of lewy bodies?
α-synuclein—(intracellular eosinophilic inclusions)
Tell five characteristics of abetalipoproteinemia
- Autosomal recessive
- Deficiency in ApoB48, ApoB100—- Chylomicrons, VLDL, LDL absent.
- severe fat malabsorption, steatorrhea, failure to thrive.
- Later manifestations—retinitis pigmentosa, spinocerebellar degeneration due to vitamin E
deficiency, progressive ataxia, acanthocytosis. - Treatment: restriction of long-chain fatty acids, oral vitamin E.
urine sediment findiing in acute tubular necrosis
muddy brown casts
What is the molecular function of the neurothropic tyrosine kinase (Trka) receptors and which type of ligands bind?
- Autophosphorilation and down stream phosphorylation of MAPK pathway members
- Neurotrophins—- nerve growth factors
which is the clinical presentation of Trka gene mutation?
insensitivity to pain, anhydrosis, self-mutilation behavior, congenital retardation and cancer.
whats is mixing study in secondary hemostasis disorders?
is the study to differentiate between hemophilia A and coagulation factor inhibitor.
hemophilia A (ptt CORRECTS when mixing patient plasma with normal plasma) coagulation factor inhibitor (ptt DOES NOT CORRECT)--because is a lot antibodies.
Which is the reason that in von Willebrand disease, PTT is increased?
because vWf stabilizes factor VIII
which is the result of Ristocetin test in vWF disease ans why?
is an abnormal test.
because normally ristocetin induces vWf binding to GpIb receptor.
which is the best screening test for DIC?
D-dimer
difference between DIC and fibrinolysis disorders
- DIC— D dimer elevated
- FD: normal D dimer (because there is no any thrombi
- DIC: thrombocytopenia
- FD: normal platelet count
which is the cause of DIC in pregnant women or during delivery?
amniotic fluid produce tissue thromboplastin— activate coagulation cascade
Which are the criteria to diagnose AIDS?
- cd4 <200 or <14%
- HIV with AIDS defecting condition (pneumocystis pneumoniae)
Ischemic lesion in hippocampus (bilateral)
Anterograde amnesia—inability to make new
memories.
Primary hypothyroidism
2dary Hypothyroidism
1ary: Failure in pituitary gland
2dary: failure in thyroid gland
which are the nucleus that are affected mainly in wernicke korsakoff syndrome?
- medial dorsal nucleus of thalamus
- mammillary bodies
peutz Jeghers syndrome
AD
chromosome 19— mutation in serine/threonine kinase 11 gene.
Pigmented mucocutaneous macules and hamartomatous polyps in GI tract —- abdominal pain and GI bleeding tract
Liposarcomas
Lipomas
Contain lipoblast— this lipids causing identations and scalloping of nuclear membrane (pleomorphism)
- Most soft tissue sarcomas in adults.
- Multiple mitosis
Lipomas: not pleomorphism and multiple mitosis neither
Chronic alcoholics— developed cerebellar atrophy
because thiamine deficiency
loss of purkinje cells y anterior lobes and cerebellar vermis—— ataxia, truncal istability and intention tremor
Hyperthrophic cardiomyopathy
AD— cause sudden death in adolescents and young adults
- mutation in beta myosin heavy chain protein— inappropiate hypertrophy in left ventricle — dyastolic disfunction and outflow obstruction
- increase cardiac work cause myocardial infarction, coronary arteries unaffected
- systolic murmur in left sternal border
IgA deficiency characteristics
- sinopulmonar and GI tract infections
- High risk for autoimmune diseases and allergic reactions
- anti IgA-IgE antibodies can cause anaphylaxis reaction in patients that are exposed to IgA in blood transfusions
LYNCH SYNDROME
germline mutation involving mismatch repair genes MSH 2, 6, MLH 1, PMS2, leading to microsatellite instability of cell DNA: carcinogenesis results from impairment of genes that control cell growth and apoptosis.
Colorectal, ovarian and endometrial cancer
Cyanotic congenital heart disease (5ts)
- Tetralogy of fallot
- transposition of great arteries
- truncus arteriosus
- total anomalous pulmonary venous connection
- Tricuspid atresia
Pinealomas
pineal gland tumors—- obstruction of cerebral aqueduct— hydrocephalus
could cause mass effect in superior colliculus — parinaud sx: upward gaze palsy, abscent light pupillary reflex and impaired comvergence
Kluver - bucy syndrome
lesion in temporal lobe mainly in amygdala, relate with HVS-1 encephalitis.
Inappropiate sexual behavior, hyperphagia, amnesia, agnosia and dementia.
Uncal herniation
The uncus (medial part of hippocampal gyrus) is pressed through the tentorium cerebelli into the infratentorial space, temporal herniated lobe exerts pressure on oculomotor nerrve (III)
Von hipple lindau disease
AR
Mutation in VHL tumor suppresor gene on chromosome 3
hemangioblastomas in cerebellum, cyst in pancreas and kidneys, pheochromocytoma and renal cell carcinoma (clear cell)
Dysplastic nevus syndrome
melanoma susceptibility locus CDKN2A on chromosome 9p21, encodes cyclin dependent kinase inhibitor —- cell inappropiately advance in cell cycle
P57 protein
a complete mole is distinguished for a partial mole by negative P57, is a product of a paternal imprinted but maternal expressed gene.
Pontine hemorrhage
cause pinpoint pupils, loss of horizontal gaze, cuadriparesis, decerebrate posturing, rapidly coma (reticular activating system disruption)
Urinary incontinence
- stress—- decreased tone of urethral sphinchter: leakage with coughing, sneezing
- Urge—- detrusor hyperactivity
- Overflow: impaired for detrusor contractility: incomplete empyting and continue dribbling
Frontal lobe syndromes
Left: apathy and depression
Right: Desinhibited behavior
Cligger najjar sx
Dubin johnson sx
Gilbert sx
- Absent UDP glucurosyltransferase — indirect
- Defective liver excretion (black liver), Rotor is similar mild presentation
- Midly UDP glucorosyltranferase defect— hyperbillirubinemiaonly in stress situations
Patent ductus arteriosus
Left to right shunt
splitting S2
Hamartoma
“pulmonary chondroma” most common location
Is a excessive growth of tissue type native to the organ of involvement
Annular pancreas
abnormal migration of ventral pancreatic bud
small cell carcinoma
smoking history
locally central
Histology: round or oval cell with scant cytoplasm and large hyperchromatic nuclei
neuroendocrine markers: enolase, chromogranin and synaptophisin
Trisomy 13
Trisomy 18
- Both have Rocket bottom feet
- 13: patau, midline defect, GI abnormalities, polydanctilia
- 18: Edwards, hypertonia, clenched hand and overllaping fingers, Cardiac abnormalities, GI and genitourinary defects.
Hyperacusis
lesion in facial nerve —- stapedius nerve a branch– innervates the stapedius muscle
Systemic mastocytosis
Mutation in the KIT, receptor of tyrosine kinase
clonal mast cell proliferation: bone marrow, skin and other organs
Excessive histamine secreted by mastocytes: flushing, syncope, hypotension, pruritus, urticaria, gastric acid secretion. the excess of acid inhibits pancreatic enzyme causing diarrhea.
gallstones in crohn disease
inflammation of the terminal ileum causing decreased bile acid reabsorption—- supersaturation of bile— gallstones.
Microcytic anemia
- thalasemia
- iron deficiency
- Chronic disease
- sideroblastic
why gastrectomy cause decrease iron absorption
gastrectomy—– decreased acid——- decrease Fe+2 (easier absorpted) —- decreased absortiption
when Ferritin goes down…
TIBC goes up—– because the mos and liver interpret there is no iron— trying to increase transferrin
plummer vinson sx
Glossitis+ esophageal web+iron deficiency anemia
Kimmelstiel wilson nodules
diabetic glomerulopathy—-nodular glomerulosclerosis
thickening of glomerular basal membrane
Electrophoresis in major B thalassemia
Lilttle or no HBA, shows HbA2 and HbF
Acute intermittent porphyria
AD Porphobylinogen deaminase deficiency Abdominal pain neurologic symptoms port wine colored urine Treatment: inhibit ALA synthase, acute attack--- dextrose and IV heme
Krukenberg tumor
first gastric cancer that has metastasized in ovaries—- Histologic: signet ring cells (nucleus displaced by mucin)
Good pasture syndrome
autoantibodies against alpha 3 chain of type IV collagen found in glomerular basement membrane and pulmonary capillary membrane.
E6 and E7 HPV proteins
- Inhibition of cell cycle regulation
E6– binds to p53: ubiquination and proteosome degradation— unable to activate apoptosis if DNA persists damage beyond repair
E7— binds to Rb — promote unregultated DNA replication
BCR-ABL
Oncogen
Chronic myelogenous leukemia
T- 9, 22
With tyrosine kinase activity
Spherocytosis
No central pallor= hyperchromia = increased men corpuscular hemoglobin
Molecular defects in genes that encodes proteins of cell membrane: spectrin, ankyrin, band 3 and protein 4.2
Myasthenia gravis
- main affected muscles innervated by nerves of brainstem—- symptoms improve with rest, get worst with exercise
- autoantibodies against postsynaptic acetyl choline nicotinic receptors
- Damaged motor end plate due to complement fixation
Multiple endocrine neoplasia (MEN)
MEN 1: pituritary adenomas, pancreatic neoplasia and parathyroid adenomas (MEN1 mutation)
MEN 2A: pheochromocytoma, medullary thyroid cancer (parafollicular C cells and Parathyroid hyperplasia
MEN2B: Same 2A buy with mucosal neuromas and marfanoid habitus (RET protoncogen mutation)
Lead poisoning
lead bind to sulhydryl groups on proteins —- replaces calcium in Ca+2 dependent cellular functions inhinitory enzymes in heme synthesis
Cognitive impairment, irritability, constipation, abdominal pain, interstitial nephritis and anemia.
Dx; blood lead level and increaed urine gamma aminolevulinic acid
Asbesto exposition is related with?
- bronchogenic carcinoma mainly
- pleural mesothelioma: but is rare
- pulmonary fibrosis
Colon villous adenoma
Long glands with villi like projections extending from the surface (cauliflower like projections)
Dysplastic changes
most likely to undergo malignant transformation
Occult or visible bleeding
Hyperplastic polyps
more common asymptomatic
not dysplastic changes
well differentiated mucosal cells that form glands and crypts, maybe large but no dysplastic
Aquired Q-T prolongation
hypoK+ and HypoMg++ Drugs: Antiarrhythmics class IA (quinidine) and class III (sotalol) macrolides, fluoroquinolones, haloperidol
Myocardial infarction changes
1-4 hours: nothing
4h-12 h: elongated myocytes
12-24h: hypereosinophylia and pyknotic nuclei
1-3 days: coagulation necrosis, neutrophylic infiltrate
3-7 days: macrophages infiltration
7-10 days: robust phagocyte of death myocytes by mos, beggining formation of granulation tissue
10-14 days: granulation tissue and neovascularization
2 weeks to 2 months: scar formation, progressive collagen deposition
Polymyositis
proximal muscle weakness
autoantibodies: anti Jo 1- anas
Biopsy: endomysial mononuclear infiltrate, patchy necrosis, cd8
- Complications: interstitial lung disease and myocarditis
Familial disbetalipoproteinemia
AR
Xanthomas and premature coronary disease
Defect in Apo E3 and 4—– found in Triglyceride, chylomicrones and VLDL
** without apolipoproteins the liver cannot remove chylomicrones and vldl of circulation.
Which are the uterine findings in ectopic pregancy?
dilated, coiled endometrial glands and vascularized edematous stroma.
Increased serum levels of prolactin…
Supressed GnRh secretion—– decreased LH and FSH
IgA nephropaty
LM– mesangial proliferation
EM— mesangial IC deposits
IF: IgA based deposits in mesangium
Renal pathology of henoch scholein purpura
Episode of painless gross hematuria, occurs after an upper respiratory infection
Hypothyroidism Myopathy
slow of calcium reabsorption by sarcoplasmic reticulum
Mialgia, proximal muscle weakness ans cramping
CKmb elevated
Which is the meaning of overlaping skin retractions in breast cancer?
involvement of suspensory ligaments of the breast (cooper ligament)
Colitis associated carcinoma is more likely to…
Affected young patients
Progress from flat and non polypoid dysplasia
Histollogic appears mucinous or/and signet ring morphology
Develop early P53 mutation and LATE APC mutation,
multifocal in nature
pathogenesis of pulmonar hypertension due to systemic arterial pressure
diastolic left ventricular failure (due to concentric hypertrophy)—————–increase the pulmonary capillary and arterial pressure secondary to pulmonary venous congestion.
Intraductal papilloma
most common cause of bloody nipple discharge
typically no breast mass or skin changes
Histology: papillary cells with fibrovascular core
CREST vs systemic sclerosis
CREST: anti-centromere
Systemic: anti- topoisomerase I (Scl -70)
pseudogout
Crystals of calcium pyrophosphate (romboid shape)
Knee compromise > 50% of cases
synovial fluid: neutrophils
poststreptoccocal glomerulonephritis
- All glomeruli are enlarged and hypercellular—– due to leukocyte infiltration and proliferation of endothelial and mesangial cells
- EM: electron dense deposits (humps) on basement membrane
- Immunofluorescence: granular deposits of C3 and IgG—“lumpy-bumpy” appearance
Mixomatous changes
pathologic weakening of connective tissue in the media of large arteries (medial degeneration).
— fragmentation of elastic tissue (cystic medial degeneration)—— predispose to aortic aneurysms
Example: marfan syndrome
Hypothyroidism
most common cause: hashimoto thyroiditis (autoimmune destruction of thyroid gland)
increase TSH , t4 decrease and in initially stage T3 is normal (because as hort half life, t4-t3 conversion is variable)
Restrictive cardiomyopathy
idiopathic of infiltrative disorders (amyloidosis (transthyretin-TTR) , sarcoidosis and hemochromatosis)——–diastolic heart failure with preserved ejection fraction
Amyloid and DM2
islet amyloid polypeptide (amylin)is one factor responsible for beta cell dysfunction
Endometriosis vs adenomiosis
endometrial glands and stroma ouside of the uterus
most common location is ovaries : chocolate cyst
- Adenomiosis: endometrial tissue and stroma in myometrium
The majority of cancers in head and neck are:
squamous cell carcinoma: oral cavity, lower lip, tongue, soft palate and gingiva
Pseudohypoparathyroidism
Resistance to PTH: damaged in pth receptors or signaling pathway.
Hypocalcemia
Hyperphosphatemia despite elevated level of PTH
Type 1, albright hereditary osteodystrophy: defect in GNAS1, codes alpha subunit of G protein for PTH
Skeletal defects
which is the reason of increased gastrin secretion in pernicious anemia?
autoimmune destruction of gastric mucosa ———–resulting in atrophic gastritis— causing profound hypochlorhydia– leading to compensatory increase in serum gastrin levels (by G cells, nomally inhibited hy Hydrochloric acid)
Age related macular degeneration
dry: > 80%, deposition of extracellular material (treat with polivitaminand antioxidant supplement)
Wet: bleeding secondary to choroidal neovascularization. (treat: anti VEGF, ranibizumab)
Alcohol induced hepatic steatosis
decreased in free fatty acid oxidation secondary to excess NADH production by alcohol dehydrogenase and aldehyde dehydrogenase
Aflatoxins
aspergillus fumigatus; A1,B2,G1,G2
B1 is mos toxic————- mutation of p53 (G:C——T:A, transversion) = Hematocellular carcinoma
Haptoglobin
acute phase reactant that bind with free hb to preserved the iron levels
Decreased in hemolytic anemia
Henoch sholein purpura
small vessel vasculitis
the ag of infection stimulates production of IgA abs (immune complexes)
GI tract (abdominal pain, bleeding), kidneys (IgA nephropathy, Berger disease—-mesangual proliferation and crescent formation, Skin (palpable puruoura in buttocks and lower extremities), Joints (self limited arthalgias).
polycystic kidney disease
AR: utation PKHD1 —- codes fibrocystin (kidney and liver)
olygohydramnios ——— potter sequence– flattened facies, limb deformities, pulmonary hypoplasia.
AD: cerebral aneurism common complication
Orotic aciduria
AR novo pyrimidine synthesis physical and mental retardation megaloblastic anemia elevated urinary orotic acid defect in uridine 5´ monophosphate (UMP) synthase treatment: uridine supplementation
Wallenberg syndrome
lateral medulla V-VIII-IX-V-VII spinotalamic tract, sympathetic fibers inferior cerebellar peduncle PICA ** vomiting, vertigo, nystagmus, decrease pain and temperature sensation ipslateral face and contralateral body dysphagia, hoarseness , decrease gag reflex and ipslat horner sx
Pulsus paradoxus in absence of pericardial disease?
asthma or COPD exacerbation
Classic laboratory abnormalities in multiple myeloma?
Normocytic, Nomochromic anemia
Bence jones proteins in urine
Erythrocyte rouleaux formation
Atheroclerotic plaque cause angina until they obstruct?
75% of lumen— causing imbalance between myocardial oxygen supply and demand
Acute rheumatic fever: hystologic finding
Pancarditis: interstitial fibrosis with lymphocyte and mos, multinucleated giant cells.
Myocardial granuloma or aschoff body (pathognomonic of myocarditis by ARF)
Familial dyslipidemias
I: Hyper chylomicronemia (Lipoprotein lipase defect), pancreatitis, xanthomas
IIa: Hypercholesterolemia (LDL receptor defect): accelerate atherosclerosis, MI before 20, xanthomas (achilles tendom)
IV: Hypertriglyceridemia (herpatic over production of VLDL) acute pancreatitis
Congenital adrenal Hyperplasia
- *21 hydroxylase: decrease cortisol, aldosterone. Increase testosterone and 17 hydroxyprogesterone: ambiguous genitalia in girls, salt wasting (hypotension, decrase sodium and increase potassium)
- 11 beta hydroxylase: decrease cortisol and aldosterone, increase testosterone and 11 deoxycorticosterone (weak minerlocorticoid)————-result in increase blood pressure. Ambiguous genitalia in girls.
- 17 alpha hydroxylase: decrase cortisol, testosterone, increase mineralocorticoids, increase corticosterone (weak glucorticoid)——— all patient like female and hypertension.
The presence of nephrotic sx and malignancy suggest?
membranous glomerulopathy
Membranous glomerulopathy causes
Systemic disease: DM, cancer (solid tumors), immunologic disease
Drugs: gold, penicillamine, NSAIDS
Infections: hep B, C, malaria and syphilis
** Thickening of glomerualr capillary wall without and increase in cellularity. In EM showa protruiones “spikes” granular deposits between basement membrane and epitelial cells of IgG and C3
Microscopic finding of osteonecrosis
dead of bonytrabeculae (empty lacunae) surround fat necrosis
Wolff Parkinson white triad
pr < 120 mseg
Delta wave
widened QRS complex
Rett Sx
neurodevelopment disorder in girls
1st normal until 5-18 months —- loss of motor and language skills, stereotipic movements in hands, deceleration of head growth, seizures, autistic features, breathing abnormalitis, de novo mutation x linked HECP2 gene
Which is the reason of immune trigger for minimal change disease?
systemic T cells dysfunction— leads to production of glomerulus permeability factor (cytokine) ————damage podocyte
Kallman sx
failure GnRh secreting neurons to migrate from their origin in olfatory placode —-mutation Kal-1 gene or fibroblast growth factor receptor-1 genere
Delayed puberty
no testis enlargement in boys: 14 years
No breast enlargement in girls: 12 years
Distal duodenal ulcer and increased/ normal gastrin level
zollinger ellison syndrome (tumor secreting gastrin)
Gatrin rise in responde to administration of secretin
Most common cause of death in friederich ataxia?
cardiomyopathy: hyperthophic
polycystic ovarian syndrome LH and FSH
increase both ——- alter hypothalamic hormonal feedback response.
Gerstmann Sx
ischemic stroke in angular gyrus (integrate mulrisensory, visual, tactile and verbal) in dominant parietal lobe
Middle cerebral artery
agraphia, acalculia, finger agnosia, left- right desorientation
Paroxysmal nocturnal hemoglobinuria
Complement mediated hemolyisis
Mutated phosphatidylinositol glycan class A (PIGA) gene, Attached cell surface proteins (CD55)– normally inactivated complement.
Leads to uncontrolled complement mediated hemolysis
Manifestations: hemolysis, hemoglobinuria, thrombosis, pancytopenia (due to stem cell injury). Chronic hemolyisis — leads to iron deposition in kidney (hemosiderosis)— damaged the proximal tubule, interstitial scarring and cortilcal infarcts.
Hereditary hemorrhagic telangiectasia sx
inherited disorder of blood vessels
telangiectasias on skin and mucous membranes, epistaxis, arteriovenous malformations, GI bleeding and hematuria
