Key Associations 4 Flashcards
Pathogenesis of Fragile X
FMR1 located on long arme of X chromosome. Increased number of CGG repeats leads to HYPERMETHYLATION of cytosine bases and gene inactivation.
Artery that provides the majority of blood supply to the femoral head and neck
MEDIAL FEMORAL CIRCUMFLEX - injury can cause avascular necrosis of femoral head. Damage most common in DISPLACED fractures
Why does elastin have plasticity
DESMOSINE crosslinking between 4 different LYSINE residues on 4 different elastin chains, crosslinking via extracellular LYSYL HYDROXYLASE (elastin doesn’t form triple helixes)
Hirsutism
terminal hair growth in a male-like pattern
Virilization
hirsutism in association with clitoromegaly, increased muscle mass, acne, increased libido, voice deepening
Cause of idiopathic hirsutism in a female and Rx?
Due to increased conversion of testosterone into DHT via 5 alpha reductase or higher sensitivity of hair follicles to DHT. DOC is SPIRONOLACTONE due to anti-androgenic properties - blocks androgen receptors at hair follicles decreasing T production
in LV failure, fluid accumulation in the lung interstitum causes
DECREASED COMPLIANCE (reduced ability of lung to stretch during inhalation)
Causes of reduced compliance
Pulmonary fibrosis, insufficient sufactant, pulmonary edema
Profound cerebral hypoperfusion may lead to
GLOBAL CEREBRAL ISCHEMIA (ischemic-hypoxic encephalopathy) Watershed infarcts occur between zones of perfusion of anterior, middle, and posterior cerebral arteries causing bilateral wedge-shaped bands of necrosis.
Most vulnerable areas of brain to ischemia (affected first)
Pyramidal cells of hippocampus (Sommer’s sector CA1) and purkinje fibers of cerebellum
Retinopathy of prematurity
caused by use of concentrated oxygen for therapy. Upon return to normal room air, induces upregulation of VEGF causing neovascularization and possible retinal detachement
What is N-myc
a TRANSCRIPTION FACTOR can bind DNA (detected by DNA probes) C-myc overexpressed in Burkitt lymphoma
what is k-RAS
G-protein, mutations common in pancreatic malignancies
RET proto-oncogene
codes for membrane-bound tyrosine kinase receptor involved in celly cycle regulation, 95% mutated in medullary carcinoma
RAS gene
MAP kinase controls cell proliferation, found in FOLLICULAR Thyroid cancers
Pressure at the carotid bodie increases, the number of impulses
impulses sent to CNS increase, leading to parasympatheic stimulation
What conditions predispose to (a disease where valvular vegitations are found at autopsy)
VALVULAR INFLAMMATION, DAMAGE, AND SCARRING predispose to INFECTIVE ENDOCARDITIS
Type of receptor found on vascular smooth muscle
Beta 2
PPV in words
test’s ability to correctly ID those with disease from all those who had positive results (fraction of those with disease/positive results)
Sensitivity
Ability of test to RULE OUT those with disease
Specificity
represents ability of a test to EXCLUDE those without disease (low false positive)
Effect of PPV and FN if you lower the cut off point in a test?
Increases the sensitivity, true positives, but because FP will increase, the PPV and FN will increase
RANK receptor essential for
Differential of osteoclasts, hypoestrogenic states over-express this receptor increasing osteoclast activity
Not a gut derivative but receives blood supply from foregut
SPLEEN is mesodermal dorsal mesentary but receives branch off celiac from foregut
Gland found in dermus and subcutaneous fat of breat areolae, axillae, geintal regions
APOCRINE glands - secrete membrane bound vesicles (“sweat”) into hair follicles rather than directly to skin
Holocrine glands
sebaceous glands, discharge of entire secretory cell
Eccrine glands
also called merocrine glands - present in skin throughout most of body, watery fluid rich in sodium and chloride - SWEAT
merocrine glands
ECCRINE ! Same thing! Regular sweat glands
Presentation of PH, and may lead to:
DOE can progress to cor pulmonale with RV hypertrophy, may lea to SCD
Causes of lactic acidosis
Enhanced metabolic rate (Seizures, exercise) Reduced O2 delivery, Diminished lactate catabolism (hepatic failure), decreased oxygen utilization,
Predisposing factors for aspiration pneumonia
Impaired cough reflex/glottic slosure (dementia, drug intox) DYSPHAGIA due to neurologic deficit (stroke), GERD, nasogastric/endotrach tubes, vomiting, feeding tubes
MOA of the exotoxin produced by C. diptheriae
INHIBITS PROTEIN SYNTHESIS: AB toxin - the A (active) subunit of this exotoxin transfers a ribose residue from NAD to histidine on elongation factor -2 (EF-2) inhibiting protein synthesis (Unlike shigellas/EHEC’s toxin that inactivates 60S subunit)
MOA of toxin produced by B. Pertussis
INHIBITS PHAGOCYTIC ABILITY: stimulates intracellular G-proteins to increase cAMP production, leading to increased insulin production, lymphocyte and neutrophil DYSFUNCTION, and increased sensitivity to histamine
Function of EF-2 protein in eukaryotes
essential for PEPTIDE CHAIN TRANSLOCATION on the ribosome for protein synthesis
MOA of Shigella’s shiga toxin and EHEC
Inactivation of 60S ribosomal subunit
2 most common causes of focal brain lesios in HIV-positive patients
Toxoplasmosis and PRIMARY CENTRAL NERVOUS SYSTEN (CNS) LYMPHOMA -(of B-LYMPHOCYTE origin)
Primary CNS lymphoma
composed of B-LYMPHOCYTES and most commonly occurs in immunocompromised patients (AIDS) (most lymphomas are B)
Neuraminidase
required for the release of vius from infected cell and spread within respiratory tract (Oseltamivir inhibits)
Antithrombin inhibits
Factor Xa and THROMBIN
Neurophysins
proteins involved in posttranslational processing of oxytocin and vasopressin. Produced in neuronal cell bodies of PARAVENTRICULAR and SUPRAOPTIC nuclei and released into circulation from axon terminals in PP gland.