Myasthenia gravis associated with thymoma polyploidy more than 2 sets of homologous chromosomes exist within an organism or cell

l e.g. h. mole: 69 XXX, 69 XXY or 69XYY Turner syndrome high: LH, FSH low: estrogen Mullerian agenesis normal: LH, FSH, estrogen Leydig-cell agenesis high: LH, FSH low: testosterone Congenital adrenal hyperplasia high: testosterone low: LH, FSH Complete androgen insensitivity high: testosterone, LH low: FSH ** pheochromocytoma Intraventricular hemorrhage (IVH) brain injury in premature infant RF: <32wk gestation BW < 1500g intrapartum asphyxia rrespiratory distress syndrome prolonged resuscitation usu. Begins in germinal matrix (subventricular) no network fibers to support vasculature in germinal matrix Postmortem clots bright purple to red, gelatinous clots within vasculature lack lines of Zahn, not attached to vessel wall Cephalhematoma hemorrhage within circular region of scalp RF: sudden delivery, disproportion between diameter of fetal head and birth canal, forceps Saccular aneurysm (berry aneurysm) RF: hypertension & cigarette smoking rupture is 2nd MCC of subarachnoid hemorrhage (5th decade) Ototoxicity first aid page 244-245 Palmitoylation fatty acids covalently anchored to plasma membrane cystein residues increase hydrophobicity

ACHONDROPLASIA

AD point mutation FGFR-3 on Chrom 4p16.3 N (-) cartilage proliferation short proximal extremities w normal trunk length enlarged head with frontal bossing

APERT SYNDROME missense substitution mutation of FGFR-2 on Chrom 10q25-q26 syndactyly PATAU trisomy 13 polydactyly MARFAN mutation of FBN1 gene on Chrom 15q21.1 OSTEOGENESIS IMPERFECTA brittle bone disease MC form: AD with abN type I collagen type II fatal in utero or neonatal period BLUE SCLERA MALE PSEUDOHERMAPHRODITISM genetic males (XY) feminized d/t defect of testosterone production or action e.g. Androgen insensitivity syndrome defect in androgen receptor testes in labia majora normal looking female rudimentary vagina mRNA translation Cytosol mRNA binds to ribosome to initiate translation N-terminal peptide sequence endoplasmic reticulum recognized by signal recognition particles (SRPs) which halt translation and target proteins to RER 15-20 amino acid recidues, mostly hydrophobic thus, deletion of hydrophobic cores prevent SRP binding and protein accumulates in cytosol RER SRP dissociates ER translation proceeds BIOTIN cofactor for carboxylation e.g. acetyl-CoA carboxylase FOLIC ACID single-carbgon transfer reactions used as tetrahydrofolate synthesis of purines, thymine, certain aa's deficiency: neural tube defects, megaloblastic anemia

PYRIDOXINE cofactor in transamination, decarboxylation, condensation, deamination (all -aminase enzymes) synthesis of delta-aminolevulinic acid, which is increased in lead poisoning make heme

EMINIFEROUS TUBULES and EPIDIDYMIS contain high concentrations of testosterone for spermatogenesis and sperm mutation high concentration maintained by ABP (androgen-binding protein) within ST synthesized and secreted by Sertoli cells lack cilia, but are columnar and secrete ABP LEYDIG CELLS synthesize and secrete testosterone in testicular interstitium, outside of seminiferous tubules SPERMATOGONIA intermediates in spermatozation don't secrete ABP within epithelium of seminiferous tubules **glucagon (+) glycogenolysis and gluconeogenesis in hepatocytes activates Gs stimulates adenylate cyclse increased cAMP

Cervical sympathetic ganglion sympathetic innervation to tarsalmuscle lacrimal gland radial muscle of iris all salivary glands Greater, lesser and least thoracic splanchnic nerves sympathetic preganglionic neurons into abdomen synapse on postganglionic cell bodies within celiac and aorticorenal ganglia sympathetic innervation to abdominal viscera may pass directly to adrenal medula without synapsing Vagus nerve all parasympathetic preganglionic fibers innervates viscera of thorax foregut midgut PLATELET ACTIVATING FACTOR (PAF) phospholipid inflammatory mediator causes severe bronchoconstriction, vasoconstriction and platelet aggregation with microthrombus formation low concentrations: vasodilator, promotes leykocyte adhesion to endothelium, diapedesis, degranulation, and oxidative bursts affects platelets through Gq receptor and activates phospholipase C Phospholipase C IP3 and DAG IP3-mediated release of calcium promotes platelet activation