Term
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Definition
noninvasive - uses high-frequency sound waves to visualize soft tissue structures
14-18 weeks
can detect hydrocephalus, spina bifida, congenital heart defects, skeletal anomolies |
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Term
prenatal screenings for Down Syndrome
3 to 4 and woman's age determine probability of Down Syndrome |
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Definition
decreased AFP levels
high HCG levels
decreased levels of unconjugated estriol
increased levels of PAPP-A |
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Term
| prenatal screenings for possible neural tube defect or other malformation |
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Definition
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Term
| maternal serum (blood) markers |
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Definition
used to test for Down Syndrome and Neural Tube Defects
-Alpha fetoprotein (AFP)
-Human Chorionic Gonadotropin (HCG)
-Unconjugated estriol
between weeks 15 and 22 |
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Term
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Definition
major fetal plasma protein made by yolk sac, GI tract and liver
screening done 16 to 18 weeks gestation |
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Term
| Human Chorionic Gonadotropin HCG |
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Definition
| glycoprotein produced by trophoblast |
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Term
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Definition
| produced by placenta, normally levels increase throughout pregnancy |
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Term
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Definition
invasive but outpatient
15-16th week of pregnancy, tests amniotic fluid and cells shed by the fetus amniotic fluid from uterus using a thin needle- chromosomal analysis by growing cells in culture
35+, increased risk of Down or chromosomal abnormalities |
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Term
| Chorionic Villus Sampling |
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Definition
Invasive
10 weeks after gestation
transcervical (catheter) or transabdominal (needle) to sample the chorionic villi for biopsy, DNA analysis and biochemical tests (not cultured)
genetic or chromosomal abnormalities - not neural tube defects |
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Term
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Definition
| site of exchange of nutrients between mom and embryo, they also develop into the placenta |
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Term
| Percutaneous Umbilical Cord Blood Sampling |
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Definition
invasive
16th week gestation
insertion of needle through uterine wall and into the umbilical artery to test fetal blood - chromosomal analysis
test poses most risk, last resort, can cause miscarriage |
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Term
| Prenatal diagnoses from Percutaneous Umbilical Cord Blood Sampling |
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Definition
| hemogloblinopathies, coagulation disorders, metabolic and cytogenic disorders, and immunodeficiencies/ fetal infections |
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Term
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Definition
invasive
surgery that uses a thin, lighted tube put through a cut (incision) in the belly to look at the abdominal organs or the female pelvic organs, can also remove tissue/tumor/cysts |
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Term
Cytogenic Analysis
(prenatal screening) |
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Definition
| fetal karyotyping determines chromosome background of fetus, detect abnormalities in chromosome number, structure, sex of fetus (Down Syndrome) |
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Term
DNA Analysis
(prenatal screening) |
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Definition
| detects genetic defects, such as inborn errors of metabolism (Tay Sachs, familial hypercholesterolemia) |
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Term
| Cytogenic and DNA analysis can be used with which two prenatal screening methods |
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Definition
| Amniocentesis and Chorionic Villus Sampling |
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Term
| Syndromes associated with genetic mutations |
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Definition
Turner's Syndrome
Klinefelter Syndrome
Down Syndrome |
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Term
| Turner's Syndrome genotype: |
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Definition
| monosomy (45, X/0) chromosomal abnormality where all or part of one of the sex chromosomes is absent - only one X |
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Term
| Klinefelter Syndrome genotype: |
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Definition
| polysomy (47, XXY) presence of one or more X chromosomes in excess of normal male XY complement |
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Term
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Definition
| genetic disorder due to presence of all or part of a third copy of chromosome 21 aka Trisomy 21 |
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Term
| Turner's Syndrome presentation: |
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Definition
| short stature, webbing of neck, broad chest, non-pitting lymphedema of hands and feet, no menstruation, no signs of secondary sex characteristics, and congenital heart defects (coarctation of aorta, bicuspid aortic valve); intellectually normal |
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Term
| Klinefelter Syndrome presentation: |
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Definition
| enlarged breasts (gynecomastia), sparse facial and body hair, long arms and legs, tall stature, small testes, infertility, decreased pubic hair |
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Term
| Down Syndrome presentation: |
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Definition
| epicanthal folds, slanted eyes, flat facial profile, big protruding tongue, malformed ears, short stubby hands with single palmar crease, wide gap between 1st and 2nd toes, mental retardation, growth failure; high likelihood of congenital heart disease and leukemia |
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Term
| Autosomal Dominant Disorder examples |
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Definition
Achondroplasia - short limb dwarfism
Neurofibromatosis (NF) - neurogenic tumors (fibromatous skin tumors, pigmented skin lesions)
Osteogenesis imperfecta - brittle bone dx due to defects in collagen synthesis
Spherocytosis - disorder of RBC
Huntington chorea - neurodegenerative disorder |
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Term
| Autosomal Recessive Disorder examples |
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Definition
Cystic fibrosis - disorder of membrane transport of chloride ions in exocrine glands causing lung and pancreatic dx
Glycogen storage dx's - excess accumulation of glycogen in liver and hypoglycemia (von Gierke dx); glycogen accumulation in striated muscle in myopathic forms
Sickle cell dx - RBC defect |
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Term
| Sex-Linked Disorder examples |
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Definition
Hemophelia A - bleeding disorder
Duchenne dystrophy - muscular dystrophy
Fragile X syndrome - mental retardation
Bruton-type hypogammaglobulinemia - immunodeficiency |
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Term
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Definition
power plant of cell, ATP production
mitochondrial DNA inherited from mother
key regulator of apoptosis |
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Term
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Definition
| digestive organelles, small membrane enclosed sacs of acid hydrolases - maintain pH 5.0 for proper hydrolase function |
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Term
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Definition
protein synthesis, collaborates with ER - modify and packaging
produces large carb molecules
(proinsulin into active insulin) |
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Term
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Definition
protein synthesis- small particles of nucleoproteins held together by mRNA to form polyribosomes (polysomes)
free - proteins control cell function
attached - proteins secreted from or stored in cell (cell membranes) |
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Term
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Definition
protein synthesis
Rough - synthesize proteins - cell membrane, lysosomal enzymes, exported from cell
Smooth - produce lipid, lipoproteins, steroid hormone - regulate intracellular calcium - metabolize/detox hormones/drugs |
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Term
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Definition
| from smooth ER - in skeletal/ cardiac muscle cells, store and release calcium ions |
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Term
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Definition
degrades peroxides - controls free radicals
break down long chain fatty acids
form bile acids in liver cells |
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Term
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Definition
| systemic immune complex disorder (allergic disorder) - Hypersensitivity Type III - common cause antibiotics |
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Term
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Definition
body inability to distinguish between self and non-self antigens
breakdown in T cell Anergy, hidden self antigens reintroduced to the body, microbe shares immunologic epitope with host, substance that short-circuit normal sequence of immune events |
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Term
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Definition
thymic hypoplasia, embryonic developmental defect. Failure in thymus and parathyroid development = hypocalcemia and tetany (muscle spasms)
microdeletion of specific DNA sequences from chromosome 22 |
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Term
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Definition
| uncontrolled, accidental, messy death of useful cells severely injured by trauma, 02 deprivation or disease - injured cell is unable to pump out Na+, water is pulled in by osmosis causing cell to rupture - initiates inflammatory response |
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Term
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Definition
| some cells die but catalytic enzymes not destroyed - bacterial or fungal - pus (dead leukocytes) |
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Term
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Definition
| gray firm mass - acidosis develops and denatures cell enzymatic and structural proteins - found in hypoxic injury and infarcted areas |
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Term
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Definition
| transformed into cheesy material by infiltration of fat-like substances - found in center of TB granulomas - incomplete digestion of cells |
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Term
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Definition
| when considerable tissue mass undergoes necrosis |
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Term
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Definition
| interference with arterial blood supply |
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Term
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Definition
| interference with venous return |
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Term
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Definition
| tissue infected by Clostridium bacteria |
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Term
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Definition
| programmed cell death - detaches from neighbors, MIT leaks - cytochrome c activates caspase cascade - caspase cuts up cell from within, fragments into membrane bound packets - phagocytes engulf and destroy packaged cell fragments |
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Term
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Definition
| normal part of development (webs in fingers), tissue turnover, immunity (removing infected cells), remove aged, suffering, mutated cells that threaten homeostasis |
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Term
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Definition
too much: Alzheimer's, Parkinson's, stroke, AIDS (low WBC)
too little: cancer |
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Term
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Definition
| environmental agents that cause abnormalities in developing embryo - radiation, drugs/chemicals, infection - first 8 weeks most sensitive |
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Term
| teratogenic agents cause defects in 3 ways |
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Definition
direct exposure to mom and baby
pre-pregnancy exposure, slow clearance, in system at conception
mutagenic effect of agent pre-pregnancy that caused permanent damage to man/woman reproductive cells |
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Term
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Definition
teratogenic and mutagenic - cause microcephaly, skeletal malformations, mental retardation
therapeutic doses of radioactive iodine during wk13 will disrupt thyroid development |
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Term
teratogenic
chemicals/ drugs |
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Definition
may be cytotoxic, anti-metabolic or growth inhibiting - lipid soluble drugs cross more readily - classified according to danger: ABCDX
organic mercurial are best documented - cause blindness and neurological deficits |
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Term
teratogenic
common drugs known to cause issues |
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Definition
thalidomide - phocomelia (short flipper appendages)
antimetalites (used for cancer tx) - aminopterin, methotrexate, 6-mercaptopurine)
anticoagulants - warfarin
vitamin A derivatives (Accutane) cleft palate, heart defects, retinal and optic nerve abnormalities, CNS malformations |
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Term
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Definition
Fetal Alcohol Syndrome - growth retardation, CNS issues, developmental delay, behavior issues
characteristics - small palpebral fissures, thin upper lip, elongated/flattened middle face and philtrum (lip groove) |
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Term
teratogenic
infectious agents |
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Definition
| microcephaly, hydrocephalus, defects of eyes and hearing problems |
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Term
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Definition
Toxoplasmosis
Other - varicella-zoster, listeriosis, leptospirosis, mumps, syphilis and Epstein-Barr
Rubella
Cytomegalovirus
Herpes Simplex virus type 2 (genital) |
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Term
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Definition
| protozoal infection, undercooked meat, cat poop |
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Term
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Definition
| endemic in 3rd world countries - leading cause of hearing impairment, blindness, adverse neurodevelopmental outcome |
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Term
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Definition
epidemiology unknown
brain damage apparent over several years, some infants get during first yr |
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Term
TORCH
Herpes Simplex Virus type 2 |
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Definition
| infant acquires passing through birth canal |
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Term
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Definition
most abundant, present in body fluids and easily enters tissues
only ab that crosses placenta and transfers immunity from mom to fetus
activates complement system
can bind to target cells, NK cells, macrophages = cell lysis
4 subclasses (IgG1, IgG2...) |
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Term
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Definition
secretory - saliva, tears, colostrum (first milk fr mother) and bronchial, GI, prostatic and vaginal secretions
primary defense against local infections in mucous tissue
prevents attachment of viruses and bacteria to epithelia |
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Term
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Definition
macromolecule forms polymer of five basic immunoglobulin units
first responder to antigen, first Ab type made by newborns
presence of IgM in newborns suggests in utero or newborn infection
forms natural Ab for ABO blood antigens |
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Term
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Definition
| found on cell membranes of B lymphocytes, serves as antigen receptor for initiating B cell differentiation |
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Term
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Definition
involved in inflammation, allergic responses and combating parasitic infections
binds to mast cells/basophils, trigger release of histamine and other mediators for inflam/allerg/hypersens rxn |
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Term
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Definition
cerebral perfusion pressure
CPP= MABP - ICP
CPP 70-100 mm Hg
Brain ischemia < 40 mm Hg |
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Term
| earliest sign of increased ICP |
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Definition
decrease level of consciousness
confusion, lethargy, obtundation (less than full mental capacity) stupor, coma |
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Term
| late reflexes with increased ICP |
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Definition
CNS ischemic response
neurons in vasomotor center increase MABP to increase CPP (up to 270 mm Hg)
widening of pulse pressure (high) and reflex slowing of HR |
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Term
| 3 late indicators of increased ICP |
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Definition
called cushing reflex
HT, bradycardia, high pulse pressure |
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Term
| 3 metabolic factors that affect cerebral blood flow |
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Definition
increase in CO2 > increases [H+] > increases vasodilation of cerebral vessels
O2 deficiency > causes cerebral vessels to dilate |
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Term
| sympathetic nervous system |
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Definition
| contributes to control of blood flow in large brain arteries - sympathetic reflexes are believed to cause vasospasms in some brain injuries such as cerebral aneurysm |
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Term
| descending level of consciousness |
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Definition
| confusion, delirium, obtundation, stupor, coma |
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Term
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Definition
monro-kellie hypothesis
compliance
cerebral perfusion pressure (CPP) |
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Term
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Definition
| the impact depends on amount of increase, effectiveness of compensatory mechanisms, and compliance of brain tissue |
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Term
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Definition
| change in one component balanced by almost equal and opposite effect in one or both of others |
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