Block 26 Flashcards
Stop codons
-they function only to stop translation, they dont add amino acid to polypeptide chain.
Bacillus anthracis
- woolsorters disease: spores of b.antracis are very small once they are inhaled they enter the alveoli and are ingested by macrophages. From the lung the organism rapidly move to mediastinal lymph nodes and cause hemorrhagic mediastinitis.
- once the spores germinate into vegetative cells they will begin to produce the three part anthrax toxin and clinical symptoms will rapidly follow.
- B.anthrax virulant factor is poly D antiphagocytic capsule.
- they form long chain that are described as medusa heads.
Telomerase function
Is to prevent chromosomal shortening,
S-100 immunoreactivity in brain tumors is found in
- schwanoma ( tumors of the peripheral nervous system that arise from schwan cells, microscopically they appear biphasic with highly cellular areas.
- microscopically they appear biphasic with highly cellular areas (antonini A pattern), with myxoid regions of low cellularity (antoni B pattern), that forms palisading atterns with interspersing nuclear free zones called verocay bodies.
MCCune albright syndrome
Pathogenesis:
- mosaic somatic mutation in the GNAS gene encoding the stimulatory a subunit of the G protein
- constitutive activation of adenylate cyclase leads to overproduction of several hormones
Clinical features:
- Cafe au lait(hyperpegmented macules)
- Endocrine abnormalities(precocious puberty, hyperthyrodism)
- Fibrous dysplasia( multiple osteolytic appearing lesion of the hip and pelvis)(increased risk for pathological fractures)(increased secretion of IL-6 and activation of osteoclasts).
Legg clave perthes disease
Young children that results in isolated idiopathic osteonecrosis of the hip
Essential tremor
- the most commonly diagnosed movement disorder
- also referred as familial tremor as its often follows autosomal dominant inheritance
- positive family history is essential for diagnosis sometimes
- patients symptoms improve with alcohol classicaly
- treatment is propronalol as first line
Hb C disease
Missense mutation
- glutamate residues (negatively charged) is replaced with (lysine) positively charged.
Glucokinase (gestational diabetes)
- glucokinase has a lower glucose affinity than other hexokinases, this allows it to function as a glucose sensor in beta cells by varying the rate of glucose entry into the glycolytic pathway based on blood glucose levels.
- heterozygous mutations of the glucokinase gene cause a decrease in beta cell metabolism of glucose, less ATP formation and diminished insulin secretion.
- this produces a type of maturity onset diabetes of the young, which is charactrized by mild, nonprogressive hyperglycemia that often worsens with pregnancy induced insulin resistance.
Mutation in factor V gene
- normal PTT even in the presence of activated protein C
- factor Va resistance to inactivation by activated protein C —> hyper-coagulability.
- factor V leiden mutation and mutation in the prothrombin gene are the most common inherited causes of hyper coagulability.
- usually present with multiple DVT, PE , with a normal PTT
EBV
- kissing disease
- fever, profound fatigue
- lymphadenopathy and lymphocytosis with atypical lymphocytes
- slpenomegaly
- myalgia may be presenmt
The vascular endothelium vasodilation mediation
- its mediated by actylcholine, bradykinin, serotonin, substance P and shear force.
- these stimuli active specific membrane receptors present on endothelial cells, leading to increase in cytosolic calcium levels.
- this cause activation of endothelial nitric oxide synthase which synthesizes NO from arginine, NADPH and O2
- NO then diffuse into adjacent smooth muscle cells—> activates cGMP —> relaxation of smooth muscles.
Amino acid derivatives
- Phenylanine —> tyrosine
2. Tryptophan —
Cavernous sinus thrombosis
- commonly due to contigous spread of an infection from the medial third of the face, sinuses or teeth.
- the infection can communicate in a retrograde fashion into the cavernous sinus through the valveless facial venous system.
- common pathogens include S.aureus, streptococci and rarely fungal.
- clinically , diplopia, fever, headache, ocular muscle paralysis due to injury of cranial nerve III, IV, and VI.
- loss of afferent corneal reflex, chemosis and proptosis may also be evident due to impaired venous drainage through ophthalmic veins.
EBV increase risk of malignancy for
- burkitt lymphoma
- nasopharyngeal carcinoma
- CNSL in HIV
Neurophysins
Carrier protein for oxytocin and vasopressin hormones produced within paraventricular and supraoptic nuclei, respictevely and released from the posterior pituitary.
- neurophysins are produced within the neuronal cell bodies of hypothalamic nuclei. They bind oxytocin and vasopressin and acts as chaperone molecules as they are shuttled towards the nerve terminals in the posterior pituitary.
Ankylosing spondylitis clinical
- low back pain ( onset <40 y.o, insidious onset, improves with exercise but not with rest and pain at night)
- hip and buttock pain
- limited chest expansion and spinal mobility
- enthesitis (inflammation at the site of insertion of a tendon to the bone)
- systemic symptoms (fever, chills, fatigue ,weight loss)
- acute anterior uveitis.( unilateral pain, photophobia and blurry vision)
Half life in first order kinetics
-in first order kinetics drugs, the steady state concentration os reached in 4 to 5 half lives, thus it would take apprximately 40 hours or four times of half life of 10 hours for the drug that have a half life of 10 hours to reach approximately 95% steady state concentration.
In case of hypoparathyroidism what is the treatment
Calcitriol (not calcidiol because conversion of calcidiol to calciterol depends on PTH )
Cinacalcet
Is calcimimetic that allosterically activates calcium sensing receptor in PT gland, decreasing PTH release.
-its used in secondary hypoerparathyrodism in dialysis patients
What is the diagnostic test for N.gonnorrhea
Nucleic acid amplification testing (NAAT ) is the diagnostic test of choice for gonnorrhea.
- urethral gram stain and culture can also be obtained for diagnosis and determination of antibiotic sensitivities.
- Tx of choice is ceftriaxone and azithromycin(because of high chances of chlamydia coinfection)
BestThrombin inhibitor
-unfractioned heparin due to the fact that it inhibits both thrombin and factor Xa