Block 10 Flashcards
Metoformin : mechanism
- inhibits mitochondrial glycerophosphate dehydrogenease and complex I—> decrease in cellular energy stores causes AMPK activation –> decreased hepatic gluconeogenesis.
- increase peripheral glucose utilization. It doesnt increase insulin endogenous secretion and doesnt cause hypoglycemia when used as monotherapy.
46, XX, del(22)q(11) leads to
Di george syndrome
- hypertelorism
- micrognathia
- cleft palate
- cardiac defects (teratology of fallot, interuptted aortic arch)
Fibrillin -1
Major component of microfibrils that form a sheath around elastin fibers
- fibrillin acts as a scaffold for deposition of elastin extruded from connective tissue cells.
- defects in fibrillin cause mechanical weakining in the connective tissues and abnormal activation of TGF-beta –> marfan syndrome
Craniopharyngyomas
- arises from remnants of rathkes pouch
- they have 3 components : solid(actual tumor cells ), cystic (filled with machinery oil liquid) and calcified component.
- symptoms include headache, visual field defects and hypopituratism, –> growth retardation in children
Foscarnet mechanism
Pyrophosphate analog that doesnt require intracellular activation.
-directly inhibits both DNA polymerase in Herpesvirus and RT in HIV.
Diabetes insipidus , features
- polyuria, polydipsia.
- due to impaired ADH activity –> large volumes of dilute urine
- if DI is central the most probable cause is injury or trauma to hypothalamic nuclei (not posterior pituitary)
- injection of exogenous ADH can distinguish between central and nephrogenic.
Bronchial arteries
Carries blood to the bronchi and bronchioles and together with the pulmonary artery, form dual supply to the lungs.
- the bronchial veins returns only a portion of this blood to the right heart via azygos vein and hemiazygos veins
- most of the blood supplied by bronchial arteries return to the heart via the pulmonary veins.
- this reuslt in a mixing of deoxygenated blood with oxygenated blood (PaO2 =104 mm Hg —-> after mixing —> PaO2= 100 mmHg)
B6 deficincy
Cheiliosis , glossitis, dermatitis, siderblastic anemia and affective symptoms
Fenestrae
Small pores within endothelial cells that allow free fluid exchange between intra and extravascular spaces.
Small intestinal bacterial overgrowth
Charactrized by overproduction of VIT K and folate, associated with nause, bloating, abdominal discomfort and malabsorption.
- this can arise after gastric bypass surgery with roux en y–> closed ended gastrodudenal limb in which bacteria can proliferate in
CYTARABINE
Pyrimidine analogue . Inhibit DNA Polymerase –> used to treat leukemia (AML) and Lymphomas
Needle shaped, negatively birefringent crystals
Monosodium urate crystals, seen under polarized light microscopy and may be present both intra and extracellular.
- they are seen in GOUT patients, usually at joints
T.gondii in HIV patients
HIV patients infected with T.gondii can develop encephalitis with multiple necrotizing brain lesions.
- resulting in :fever, headache, altered mental status, and focal neurological findings.
- in HIV patients with seizures, multiple ring enhancing lesion with mass effect, cerebral toxoplasmosis is a likely diagnosis.
- treatment include : pyrimethamine, and sulfadiazine along with leucovorin.
Medial geniculate bodies are part of
Auditory pathway, as well as inferior colliculi
Diarrhea DD(VIPOMA vs inflammatory vs osmotic)
Vipoma= doesn’t improve with dietary modification (in contrast to osmotic such as lactose intolerance), and doesnt have blood or pus ( while inflammatory diarrhea have pus and blood )
Paroxysmal nocturnal hemoglobinuria
- increased complement mediated intravascular RBC lysis due to impaired synthesis of GPI anchor for decay accelerating factor that protects RBC membrane from complement.
- acquired mutations in a hematopoietic stem cell. (Increase incidence of leukemia)
-pink or red urine
-triad of coombs negative hemolytic anemia, vein thrombosis and pancytopenia - CD55/59 negative RBC on flow cytometry
Treatment is eculizumab (inhibit MAC formation)
Hodgkin lymphoma clinical findings
- non tender lymphadenopathy
- reed stenberg cells
- B symptoms ( fever, night sweats and weight loss)
- Bimodal age distribution - peaks in the 20s and 60s.
Pathologic findings in the adrenal galnd in patient with cushing disease and syndrome
- Cushing syndrome : (adrenal adenoma or carcinoma): benign tumors consists of cells similar to zona fasciculata, malignant tumor can exhibit considerable pleomorphism. Along with atrophy of zona fasciculata and reticularis in the uninvolved cortex regions.
- Cushing disease/ectopic ACTH: billateral adrenocortical hyperplasia involving the zona fasciculata and zona reticularis that can be diffuse or nodular.
Prenatal Hep B infection
Risk factors: - maternal viral load -maternal HBeAg positive Clinical findings: -infant usually immunutolerant (normal or mildely elevated liver enzymes) -high risk for chronic infection - high viral load and HBeAg positive Prevention : -maternal Antiviral therapy in some cases -newborn hepatitis B vaccination and immunuglobulin within 12 hrs -routine immunization -serology 3 month after the 3rd dose
Degree of 21 hydroxylase deficiency;
- Non-classic, delayed : mild , premature pubarche or sexual precocity in school age children , young women with acne, hirsutism and menustral irregularity.
- Classic non salt wasting/ moderate: girls present at birth with ambiguous genetalia, boys present at 2-4 years with signs of early virilization
- Severe: classic salt wasting: girls present at birth with ambigious genetalia
Boys present at 1-2 weeks with failure to thrive, dehydration, hyperkalemia and hyponatremia
Von willebrand disease : parameters , assay
Ristoectin cofactor assay shows no platelet aggregation.
-treatment : desmopressin –> increase secretion from endothelial cells.
Pc= normal
BT= increased
PT= normal
PTT= increased
Niacin deficiency
Dermatitis
Dementia
Diarrhea
Platelets syndromes
- Bernard soulier
- Glanzmann thrombasthenia
- Immune thrombocytopenia
- TTP
- Bernard oulier = defect in GpIb (decreased ) defect in plaetlet to vWF adhesion
- Glanzmann: defect in integrin aIIb ß3 (GpIIa/IIIa) –> defect in platelet to platelet aggregation. (Decreased BT and normal PC)
- ITP= anti GpIIa/IIIb antibodies -> splenic macrophages consumption of antibody antigen complex –> (decreased PC and increased BT). Treatment is steroids, IVIG, splenectomy
- TTP: inhibition of adamts13 (vWF metalloprotease) –> decreased degredation of vWF multimers –> large vWF multimers –> increased platelet adhesion and aggregation –>thrombosis. (Decreased PC and increased BT). Shistocytes present, increased LDH. Tx: plasmapheresis.
Leukocyte adhesion deficiency
- recurrent skin and mucosal bacterial infections (omphalitis, periodonitis (no pus - lack of neutrophils at inflammation sites, poor wound healing)
- delayed umbilical cord seperation
- marker peripheral leukocytosis with neutrophillia.
- CD 18 absence( necessary for formation of integrin)