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Definition
No resemblance to normal tissue |
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Abnormal uncontrolled cell growth- neoplasms/necrosis can turn into solid tumors but not always |
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More common; slow growth; no invasion; en-capsulated; resembles origin tissue/highly differentiated uniform population; normal nuclei: cytoplasm ratio (1:5); few mitotic cells; good prognosis |
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Grow fast; invade surrounding tissue; (degree of deviation- well differentiated, poorly differentiated or anaplastic); no capsule; pleomorphic heterogeneous cell population; high nuclear:cytoplasm ratio (1:1); aneuploidy; lots of mitotic cells; can form metastases |
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Definition
Wrong number of chromosomes; caused by non-disjunction (chrom don't separate) during MEIOSIS
3 types: Monosomy: lose 1 chrom so have 1 total; FATAL Trisomy: gain 1 chrom so have 3 total Polysomy: gain 2+ chrom so have 4+total |
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Malignant tumor of epithelial cells; more common in adults |
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Benign tumor of epithelial cells |
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Definition
Malignant tumor or mesenchymal cells; more common in kids |
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Leukemia; Lymphoma; Multiple myeloma; Neuroblastoma; Glioma; Malignant Schwannoma; Seminoma....all other -"omas" are benign |
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Adenoma protruding from mucosal surface of glandular/ductal epithelium; benign! |
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Definition
heterogeneous cell population? |
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Definition
Tumors travel to secondary location and start new tumor; spreading of cancer; are even less differentiated/more anaplastic; only some cells from primary tumors acquire enough mutations to metastasize; sites are not random- depends on similarity of tissue to primary tumor (breast-brain/lungs; prostate-adrenal/bone) |
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Definition
1. Seeding of surfaces 2. Lymphatic system (carcinomas) 3. Circulatory system (sarcomas)
Differentiation > Metastatic subclone > Adhesion/invasion of basement membrane > Loss of E-cadherin so cell detaches; increased extracellular matrix protein; increased receptors & metallo-proteinases to migration; penetration > Intravasation > Travel via pathway > Extravasion > Angiogenesis > New secondary growth |
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Definition
Growth factors released help build new blood supply vessels which are required for secondary growth; no metastasis if fails angiogenesis |
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Definition
Traveling metastasis in blood associated with lymphoid cells & platelets; will adhere and enter new tissue |
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Definition
Vascular Endothelial-cell Growth Factor; required for Angiogenesis of secondary metastasis |
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Definition
"pre-cancer"; disorderly but non-neoplastic proliferation; in epithelial due to recurring inflammation; loss of uniformity of cells; pleomorphic cells; increased mitosis; higher nuclear:cytoplasm ration; NOT INVASIVE; if not reversed/removed can lead to neoplasia; graded scale 1-3 mild-severe |
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Severe dysplasia involving whole thickness of the epithelium; 1 step from true invasive cancer |
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Definition
1. Carcinogenesis 2. Genetic mutations 3. Carcinogens |
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Definition
Multiple genetic mutations over time causing cancer; stages: initiation (exposure (or inheritance- 5-10% cases) leads to 1st mutation), promotion (more exposure leads to more mutations & neoplasia), progression (heterogeneity & metastasis)
Promoters: can't cause initiation but can promote proliferation of mutated cell/gene
-time lag between steps can be years (Hiroshima bomb-thyroid cancer) |
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Definition
1. Activation of oncogenes 2. Loss of 'tumor suppressor' gene 3. Broken 'Apoptosis-regulation' gene |
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Mutated proto-oncogen codes for abnormal oncoprotein stimulating uncontrolled cell growth; Activation by point mutation (ras), gene amplification (myc), chromosomal rearrangement (myc in Buritt's lymphoma), viral DNA insertion (Hep B) |
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Chronic Myelogenic Leukemia |
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Definition
Philadelphia chromosome (abl-bcr hybrid gene on chrom 22 so shortened chrom 22); 1st mutation discovered linked to cancer; via pathogeneisis: activation of oncogens |
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Loss of tumor suppressor gene |
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Definition
Leads to loss of proteins made by tumor suppressor gene to inhibit growth so growth is uncontrolled; Ex. Rb-1; p53 |
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Definition
Most common cancer in kids; via pathogenesis: loss of tumor suppressor gene (Rb) so mutated Rb doesn't bind E2F to control transition from G1 to S so uncontrolled growth |
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Definition
Normall stops cell cycle from entering S phase; is mutated in most cancers so no time to repair DNA if damaged so DNA becomes neoplastic |
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Disfunctional expression of genes regulating apoptosis (Follicular lymphoma) |
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Definition
Apoptosis depending on genes like bcl-2 (normally down-regulated)
Follicular lymphoma: translocation of bcl2 causes upregulation and no apoptosis so cells live longer and accumulate mutations |
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Definition
Cause neoplasia: can be chemical, radiant energy or oncogenic viruses
Chemical: absestos- lung; nickel- nasal; arsenic- skin; estrogens- breast; tobacco- lung; etc
Radiation: UV- skin; Xrays/Radioactive uranium- thyroid
Oncogenic viruses: Hep B/C, HPV, etc |
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Definition
Variety of mutations & multiple mutations (same or different) required to form a neoplasm |
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Benign clinical manifestations |
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Definition
Obstruction; Pressure (ex in brain, vessels, ischemia, necrosis); Excess hormone secretion maybe if its endocrine in origin |
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Term
Malignant clinical manifestations |
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Definition
Obstruction; pressure; hemorrhage if vessel erosion; Cachexia (wasting away- anorexic but high metabolism); has PARANEOPLASTIC syndromes |
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Definition
Seen in malignant manifestations in 30% of cancer pts; Changes in tissue away from the actual cancer site; 4 varieties:
1. Endocrine: hormones produced by non-endocrine tissue
2. Neurologic: antibodies cross-react & destroy neural tissue (if CNS- dementia, if PNS- sensory defects)
3. Hematologic: polycythemia due to erythropoietin production by renal/liver carcinoma so makes blood clots
4. Renal: glomerulonephritis due to complement activation by trapped immune complexes |
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Definition
History/Exam/MRI/CAT scans
Biopsy (tissue); Cytology (cells); Flow cytometry (proteins); PCR (genes)
Tumor markers: abnormal proteins made by tumor cells can be tracked |
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Definition
Defined by Size & Spread
T: tumor size; 0-3 N: lymph nodes involved; 0-3 M: metastases present; 0 or 1
ex. T0N0M0: good prognosis; T4M3M1: poor prognosis
TIS: in-stitue TX: suspected M; different from M0: no M
THEN RANK ON SCALE 1-4 of cancer stages |
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Definition
Defined by differentiation; scale 1 (normal, well-differentiated) to 4 (bad, anaplastic) |
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Outcomes of abnormal development/genetic mutations |
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Definition
Spontaneous abortion (15%); Still birth; Live birth with congenital defect/abnormal baby (3%) |
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Definition
Complete failure of organ development (ex. renal agenesis) |
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Definition
Incomplete organ development (ex. microcephaly) |
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Definition
Failure to form lumen (ex. oesophageal atresia) |
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Definition
Monster-science; causing developmental disease 1. Physical (xrays, radiation) 2. Chemical (thalidomide- phocomelia since anti-angiogenic, hypoplasia of limbs; alcohol- fetal alcohol effect/syndrome) 3. Microbial (indirect: mom infected so baby low birth weight/growth retardation/premature)... or direct: fetus infected- ex. TORCH syndrome)
-depends on gestational time to exposure; dose & duration of exposure & individual susceptibility |
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Term
Fetal Alcohol Effect
Fetal Alcohol Syndrome |
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Definition
Effect: 80%; low birth weight; low IQ
Syndrome: 20%; weird face (small head, thin upper lip, flat face, epicanthal folds); severe mental retardation |
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Definition
Fetus infected directly with microbial teratogen
Toxoplasma Others (Varicella, etc) Rubella Cytomegalovirus Herpes virus
-symptoms: microcephaly; deafness; heart defect; ocular (CAT/GLC/nystagmus/strabismus); hydrocephalus; mental retardation |
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Definition
Somatic cell: 22 pairs; 1 sex pair Normal gamete: 22 autosomes; 1 sex chrom (X: female, Y: male) Karyotype: F: 46XX; M: 46XY |
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Definition
Deletion at chrom 5
Small head; reduced muscle tone; mentally retarded; deformed vocal cords so shrill cry |
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Definition
Deletion at chrom 11
W: wilms tumour; A: aniridia; G: genital malform; R: mental retardation |
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Definition
Deletion at chrom 13
Rb1 tumor suppressor gene deleted; most common cancer in kids |
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Definition
5: cri du chat 11: WAGR 13: Retinoblastoma |
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Term
Translocation or reciprocal translocation abnormalities |
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Definition
22: chronic myelogenous leukemia
extra 21 onto 14 or 22: down's syndrome (5% DS cases) |
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Definition
Wrong number of chromosomes/type of aneuploidy; caused by non-disjunction during MITOSIS after fertilization so only some cells affected so less severe the disease |
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Term
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Definition
Wrong number of chromosomes/type of aneuploidy; caused by non-disjunction during MITOSIS after fertilization so only some cells affected so less severe the disease |
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Definition
47 XX+21 or 47 XY+21
Due to non-disjunction (95%); maternal in origin; 1/30 when mom over 45; 5% translocation; 1% mosaics...most common abnormality in number of chromosomes
-symptoms: flat face/epicanthal folds; horizonal semian palmar crease; hyperflexibility; congenital heart disease; mental retardation; short stature/limbs; enlarged protruding tongue; ocular (keratoconus; strabismus, nystagmus) |
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Definition
Patau's syndrome
More severe but similar to Down's syndrome; 1/3000; mosaics may survive to adults; full trisomys die fast
Symptoms: cleft palate; polydactyl extra digits; rocker bottom feet; mental retardation; CV defects |
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Definition
Edward's syndrome
More severe but similar to Down's syndrome; 1/2000; mosaics may survive to adults; full trisomys die fast
Symptoms: CV defects; mental retardation; hypo/hypertonia; rocker bottom feet; prominent occiput on head; low set abnormal ears |
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Term
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Definition
Sex chrom monosomy XO (YO letal); so only in women 1/2000; infantile infertile genitalia; short; webbing of neck skin; cubitus valgus wide carrying angle (can't lay arms flat on body sides); renal/CV defects
-treatment: growth hormones & sex steroids for missing X |
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Term
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Definition
Sex chrom trisomy; XXY- usually true trisomy; 1/500 males; male with feminine features; can have up to 4X (3-4X then with mental retardation)
-Symptoms: tall & long limbs; small genitalia; gynaecomastia (enlarged mammary glands); female pubic hair; high pitched voice; less facial/body hair |
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Term
Other trisomy
XXX
XYY or XYYY |
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Definition
XXX: superwoman; phenotypically normal since extra X just turned off; 1/900 females
XYY: male phenotypically normal but antisocial |
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Term
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Definition
Allele: form of gene occupying locus on chromosome
2 chrom=2 alleles
1 allele: can be dominant or recessive |
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Term
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Definition
Parent has abnormal gene but doesn't manifest the disease even if it's dominant; due to unknown reasons |
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Term
Familial Hypercholesterolemia |
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Definition
Mendelian autosomal dominant disease; 1/500; defective gene for LDL receptor so LDL not recycled so no cholesterol to tissues so build up in vessels/tissues; leads to atherosclerosis/CV disease and xanthomas (red spots) in skin
Heteroxygotes: 2x chol Homoxygotes: 5x chol; die in teens |
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Definition
Mendelian autosomal dominant disease; defective gene FBN1 on chromosome 15 so dysfunctional fibrillin protein so weak vessels/valvues; stretchy skin; subluxation of ocular lens/retinal detachment/myopia |
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Term
Autosomal recessive disorders |
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Definition
25% children affected by both carrier heterozygous parents; must be homoxygous to show disease
Cystic fibrosis in Caucasians protects for plague Sickle-cell anemia in Africans protects for malaria |
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Definition
Autosomal recessive disease; most common; mutated CFTR on chrom 7 usually due to deletion of PHENYLALANINE at position 508 (cystic fibrosis transmembrane receptor) so disrupts chloride transport channel so increased NaCl in sweat so more mucousy/viscous buildup inside (neonate-intestinal rupture; pancreatic ducts-malnutrition; bronchi-breathing problems/infections) |
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Term
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Definition
Autosomal recessive disease; deficiency of phenylalanine hydroxylase so no phenylalanine to tyrosine so build up phen.
-symtoms: lack of pigmentation; musty ketone odor; CNS damage; mental retardation -test at birth with Guthrie test |
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Term
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Definition
Recessive sex-linked disease; bleeding disorder due to deficiency of clotting factors -type A: no factor 8; more common/classic -type B: no factor 9
-symtoms; spontaneous/significant hemorrage; hemathrosis (hemorrhage in joints leading to deformities) |
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Term
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Definition
Sex-linked recessive disease; spontaneous progressive degeneration of muscle; no dystrophin protein coded to maintain muscle tone so muscle atrophies
Duchenne: very severe; death by teens Beckers: weak muscles; death by 50s |
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Term
Hypophosphatemic osteomalacia |
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Definition
Sex-linked dominant on X so equally affects males/females; rare
Causes Vitamin D-resistanct 'rickets': failure of bone mineralization due to defective phosphate reabsorption in kidney 'rickets's=bow legs |
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Term
Leber's hereditary optic neuropathy |
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Definition
Mitochondrial disorder; only via material line; degeneration of optic nerve leading to bilateral loss of vision in center; mostly young adult males; usually NADH dehydrogenase mutation; 1/30,000 |
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Term
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Definition
Chrom 4; 70CAG multiple triplet repeats on autosome 4; leads to dementia |
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Term
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Definition
Chrom 19; CTG multiple triplet repeats on autosome 19; muscle waste/cataracts |
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Term
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Definition
multiple triplet repeats of CGG on X chrom; defective FMR1 gene; male aggressive; mental retardation; long face; symptoms like autism |
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Term
Multifactoral inheritance |
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Definition
Several genes involved; mutations result in 'pre-disposition'; more severely affected are more likely to transmit disease to offspring
DM; dwarfism; mental retardation; hypertension; cleft palate |
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Term
Extrinsic ANS Parasympathetic in GI |
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Definition
CN X supplies upper GI; Pelvic nerve supplies lower GI
Acetylcholine
Smooth muscle contraction; sphincter relaxation; stimulates secretion from glands |
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Term
Extrinsic ANS Sympathetic in GI |
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Definition
Celiac; sup/inf mesenteric & hypogastric ganglia
Norepinephrine
Inhibits contraction of muscularis externa; stimulates contraction of muscularis mucosa & some sphincters; reduces secretions from GI except for salivary gland secretions |
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Term
Intrinsic innervation: enteric nervous system |
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Definition
Submucosal plexus (Meissners): secretion & absorption in ducts Myenteric plexus (Auerbachs): motility |
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Term
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Definition
Classic/endocrine (motilin, pancreatic polypeptide, gastrin, CCK, secretin, peptides)
Paracrine (somatostatin, histamine): local release |
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Term
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Definition
Hcl, pepsinogen, Intrinsic Factor, Mucus
To initiate protein digestion |
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Term
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Definition
fundus & upper body of stomach; thin muscularis externa so weak contractions' mechano receptors make it distend to store food |
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Term
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Definition
lower body & antrum of stomach; thick muscularis externa so powerful contractions/retropulsion to create chyme mixture |
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Term
Cardiac glandular region of stomach |
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Definition
Below LES; secretes mucus |
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Term
Oxyntic glandular region of stomach |
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Definition
In stomach's body; Neck cells: mucus Parietal/oxyntic cells: HCl, IF Chief/peptic cells: pepsinogen |
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Term
Pyloric glandular region of stomach |
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Definition
In stomach's antrum; pyloric glands Neck cells: mucus, HCO3-, pepsinogen G cells: gastrin D cells: somatostatin |
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Term
Migrating myoelectric complex |
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Definition
gastric contractions initiated via motilin every 90 min between meals to clear stomach of residual material |
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Term
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Definition
Absorptive cells in villi of intestine |
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Term
Hormones regulating energy expenditure |
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Definition
1. Insulin (pancreas, long term control) 2. Leptin (adipocytes, main long term control; coded by OB/LEP gene) 3. Ghrelin (stomach, short term, signals hunger) 4. Peptide YY (ileum, short term, signals satiety) |
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Term
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Definition
Increase energy expentidure; decrease food intake; Stimulated by Leptin; inhibited by Leptin (self-regulating to maintain normal body weight) |
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Term
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Definition
Decrease energy expenditure; Increase food intake; stimulated by Ghrelin; inhibited by Leptin & PYY |
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Term
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Definition
Stimulates anabolic path; produced between meals when energy stores are depleted; made in stomach |
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Term
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Definition
Made in intestines; inhibits Anabolic path; influences at the end of the meal to suppress anabolic & stom from eating too much |
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Term
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Definition
-leptin resistance -mutated leptin receptor/defective POMC production/mutated transcription factor/ mutated OB gene; mutated MC4R -sedentary lifestyle -high glycemic diet |
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Term
Carbonic acid- Bicarbonate buffer system |
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Definition
CO2+H2O<->H2CO3<->H+HCO3-
-pH=7.4 when 20:1 HCO3:CO2 -CO2=35-45mmHg -HCO3=22-26mEq/L -Lungs: rapid change in CO2 -Kidneys: slow change in HCO3/H |
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Definition
Ciliated epithelial cells in conducing zone; beat in unison to move mucus over their carpet up from lungs to mouth |
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