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.