pathology.csv

Duchenne muscular dystrophy,"childhood onset, short arm x-linked disorder, absolute deficiency, decrease or absence of dystrophin (links cytoskeleton to extracellular laminin with transmembrane complex), degeneration of skeletal muscle, replacement of muscle by fibrofatty tissue, more severe type of muscular dystrophy, more common type of muscular dystrophy, diagnose with biopsy / IHC / western blot, increased serum creatine kinase, pelvic girdle weakness to shoulder girdle weakness, compensatory distal hypertrophy to pseudohypertrophy"
Becker muscular dystrophy,"childhood onset, short arm x-linked disorder, partial deficiency, decrease or absence of dystrophin (links cytoskeleton to extracellular laminin with transmembrane complex), degeneration of skeletal muscle, replacement of muscle by fibrofatty tissue, less severe type of muscular dystrophy, less common type of muscular dystrophy, diagnose with biopsy / IHC / western blot, increased serum creatine kinase, pelvic girdle weakness to shoulder girdle weakness, compensatory distal hypertrophy to pseudohypertrophy"
Myotonic dystrophy,"adult onset, autosomal dominant gene defect, associated with myotonia (inability to relax contracted muscles), mutation in dystrophia myotonica protein kinase (DMPK) encodes novel serine threonine protein kinase, often with CTG repeat expansion with <30 repeats maintaining wild type, associated with cataracts + testicular atrophy + baldness in men, weak dorsiflexion + weak hand & wrist extensors + weak facial muscles"
Mitochondrial myopathy,"childhood onset, gene mutations for oxidative phosphorylation, maternal inheritance, phenotype depends on proportion of mutant gene expressed (& must hit critical point before any phenotype), light microscopy views aggregates of reddish granular material in sarcoplasma (ragged red fiber), electron microscopy views abnormal shape & size of organelle with para-crystalline material (parking lot inclusions) & cristae alterations"
Myasthenia gravis,"variable age onset, female > male, auto Ab against ACh receptors on neuromuscular junctions, weakness & abnormal fatigue, thymus hyperplasia & thymoma are commonly found, type 2 muscle hypertrophy & lymphocyte accumulation in fascicles, weakness intensified by muscle use but recovers with rest, weakness in muscles for swallowing & chewing & speaking + muscles in the trunk + muscles in the extremities, treat with thymectomy + corticosteroids + methotrexate + anti AChE drugs"
Lambert-Eaton syndrome,"associated with paraneoplasms like small cell lung carcinoma & thymoma, associated with autoimmune diseases, auto IgG Ab against voltage sentitive calcium channels on motor nerve presynatic terminals & lung cancer cells, deficient release of ACh by nerves, weakness & wasting in proximal limbs + trunk, anti AChE drugs do not help, autonomic functions are affected"
Rhabdomyosarcoma,"adolescence onset, sarcoma of head / neck / GI, PAX3 & FKHR chromosomal fusion is common, dysregulation of muscle differentiation is thought to occur, light microscopy views round or elongated tadpole or strap cells, diagnose with skeletal muscle differentiation, treat with surgery + chemo + radiation"
Leiomyoma,"also known as fibroids, develop from smooth muscle cells of myometrium, develop in the uterus"
Superficial cutaneous leiomyosarcoma,"develop from mesenchymal cells of myometrium, develop in the uterus, usually small tumor & easily excised"
Retroperitoneal leiomyosarcoma,"develop from mesenchymal cells of myometrium, develop in the uterus, usually a large tumor & cannot be excised"
Osteogenesis imperfect,"normal lifespan + fractures easily + blue sclera (type 1), usually fatal in utero (type 2), progressively deforming + autosomal recessive (type 3), variable phenotype + normal white sclera  (type 4), autosomal dominant mutations in alpha 1 or 2 collagen type 1 synthesis genes, hearing loss + easily fractured"
Achondroplasia,"fibroblast growth factor receptor 3 (FGFR3) gene mutation, spontaneous > hereditary (autosomal dominant), inhibition of chondrocyte proliferation, stunted & thickened long bone, growth plate disorganized + hypoplastic + absent proliferation zone, large head + short limbs + kyphoscoliosis"
Osteoporosis,"osteopenia + low bone density + porous bones, female > male, stromal cell / osteoblasts bind RANKL ligants to precursor cell receptors to induce osteoclast differentiation (paracrine mechanism), increased risk after menopause (estrogen increases osteoblast activity), treat with bisphosphonates to inhibit osteoclasts, treat with osteoprotegerin (RANK ligand analog competitive inhibitor)"
Osteonecrosis,"aseptic (avascular) necrosis by ischemia, caused by vascular compression after fracture, caused by steroids, caused by thromboembolic disease (eg sickle cell anemia), caused by vascular disease (eg vasculitis), empty lacunae between fat and calcium soap necrosis,  creeping substituiton repairs off leftover fragments, pain for subchondral infarcts, no pain for medullary infarcts"
Osteoid osteoma,"located in proximal femur / tibia, smaller than 2 cm in diameter, localized pain relieved by aspirin & NSAIDs, central area (nidus) is radiolucent but can become mineralized and sclerotic (thickened)"
Osteoblastoma,"located in vertebral column, larger than 2 cm in diameter, pain not well localized & not relieved by aspirin, central area (nidus) is radiolucent but can become mineralized and sclerotic (thickened)"
Osteosarcoma,"10-20 yo onset, male > female, RB & p53 tumor suppressor gene mutations, fracture + large painful mass, destructive + mixed lytic & blastic mass without distinct margins, triangular x-ray shadow between cortex & tumor-raising periosteum (Codman's triangle), usually hematogenous spread, elevated serum alkaline phosphatase"
Gout,"male > female, hyperuricemia (high blood uric acid), monosodium urate crystal precipitates in joints, neutrophil infiltrate, synovium edema + acute inflammation, diagnose with needle like crystals under polarized light (pseudo-gout has rhomboid crystals), chronic tophaceous arthritis (tophi - urate crystals with inflammation + lymphos + macros + giant cells)"
Eczematous dermatitis,"acute inflammatory dermatosis, caused by allergic contact / photosensitivity / drug related, CD4+ T cell inflammation, pruritis + edema + oozing plaques with erythema --> scaly hyperkeratotic skin, spongiosis + hyperkeratosis"
Psoriasis,"chronic inflammatory dermatosis, proliferative skin with persistent epidermal hyperplasia, skin of elbows + knees + scalp + intergluteal cleft, pink plaque with silver white scales, microabscesses - neutrophil aggregation in para-keratotic stratum corneum"
Verrucae vulgaris,"epidermal hyperplasia, koilocytosis (cytoplasmic vacuolization in nuclei), prominent keratohyaline granules, common wart, elevated papule (verrucous / papillmoatous), single or multple lesions, HPV 2 & 4"
Verracae plana,"epidermal hyperplasia, koilocytosis (cytoplasmic vacuolization in nuclei), prominent keratohyaline granules, flat wart, plantaris / palmaris, rough scaly lesion, grows inward, HPV 3 & 10"
Actinic keratosis,"lower layer dysplasia, increased risk with sunlight & age, associated with p53 mutations, tan-brown or red sandpaper-like lesion, lesion less than 2 cm in diameter, cytologic atypia + hyperplasia of basal cells, dermal solar elastosis (blue-grey elastic fibers), stratum corneum with nuclei (parakeratosis), can develop to squamous cell carcinoma"
Squamous cell carcinoma,"p53 & RAS mutations common, increased risk with sunlight, atypia at all epidermal levels, dysplasia through full thickness of epithelium, sharply defined red scaling plaques + nodular + ulceration, can develop from actinic keratosis"
Melanoma,"increased risk with sunlight, proto-oncogene activation & tumor suppressor gene mutations, radial growth phase - superficial spread, vertical growth phase - nodular metastatic potential, enlargement / itching / pain of preexisting mole is a warning sign, development of new pigmented lesion is a warning sign, irregularity of borders / variegation (different color zones) of pigmented lesion is a warning sign"
Brain infarction,"liquefactive necrosis & cyst formation, caused by thrombosis / embolism / hypotension / hypertension, can be hemorrhagic or non-hemorrhagic"
Intracranial hemorrhage,"intracerebral hemorrhage of intra-parenchymal vessel usually caused by hypertension, subarachnoid hemorrhage associated with berry aneurysm (outpouching without muscular wall or internal elastic lamina + only endothelium & adventitia)"
Epidural hematoma,"usually middle meningeal artery, bleed between skull & dura mater, lenticular shape, loss of consciousness because of hernitation of cerebullum into foramen magnum"
Acute pyogenic meningitis,"affects childhood & elderly, photophobia + irritability + nuchal rigidity, increased CSF pressure with neutrophils + elevated protein + decreased glucose + bacteria, waterhouse-friderichsen syndrome - hemorrhagic destruction of adrenal cortex leading to hypocorticism & intravascular coagulation, purulent exudate in subarachnoid space"
Glioblastoma multiforme,"adult onset, most common primary intracranial neoplasm, astrocytoma is the highest grade, anaplasia + pleomorphism + necrosis, picket fence tumor cells (palisade), poor pronosis"
Meningioma,"benign slow tumor, second most common primary intracranial neoplasm, well defined margins, mass effect, whorled pattern with spindle cells & laminated calcified psammoma bodies, >30 yo, female > male"
Multiple sclerosis,"demyelinating white matter of CNS, female > male, 20-30 yo, plaques of demyelinated areas, lower extremity weakness + visual & sensory disturbances, Abs in CSF"
Alzheimer's disease,"apolipoprotein E, presenilin 1 mutation leads to early onset, SORL 1 mutation leads to late onset, trisomy abnormality leads to extensive plaque formation & early onset, beta amyloid deposits, neutritic (senile) plaques with neurites, neurofibrillary tau protein tangles"
Marfan syndrome,"autosomal dominant, heterozygous inheritance, connective tissue abnormalities (pleiotrophy), fibrillin-1 (FBN1) mutation prevents normal microfibril assembly, very tall (especially lower body), weak tendons + ligaments + joints (hyperflexibility), dislocations + hernias + kyphoscoliosis, chest deformity, weak aorta wall from fragmentation of elastic fibers in tunica media, bilateral dislocation of the eye lens with severe myopia & retinal detachment, treatments inhibit TGF-beta signaling and lower blood pressure"
Cystic fibrosis,"autosomal recessive, homozygous inheritance, epithelial chloride channel mutation, respiratory + GI + reproductive tract problems, abnormally thick mucus obstructs airways + pancreatic ducts + biliary ducts + fetal intestine, some forms can be treated with drugs to improve common chloride channel mutations, pancreatic enzyme replacements needed, increased possibility with consanguinity"
Hemophilia,"x-linked recessive disorder, easily bruised with hemorrhage, bleeding into joint spaces (hemarthroses)"
Down syndrome,"trisomy 21, most common cause of congenital retardation, 2/3 die in utero, nondisjunction / translocation / mosaicism, reduced IQ, characteristic craniofacial features, brushfield iris spots, congenital heart defects, single palmar crease, male sterility, predisposition to infection + acute myeloblastic leukemia + autoimmune diseases + dementia"
Klinefelter syndrome,"usually 47 XXY or other variations of more than one X, phenotypic male, testicular dysgenesis, can cause male hypogonadism & infertility, testis don't respond to gonadotrophin & regress, absent germ & sertoli cells, leydig cells hyperplasia & impairment, high FSH/LH + low testosterone, gynecomastia, barr body in cells"
Turner syndrome,"complete or partial 45 X monosomy, phenotypic female, lack of sexual development, primary amenorrhea, sterility, small stature, short webbed neck, wide carrying angle, no oocytes in ovary by 2 yo, cardiovascular abnormalities common like coarctation of aorta, increased risk of autoimmune diseases"