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1/1 FAS

QuestionAnswer
Failure to Thrive (FTT) Essentials of Dx: Persistent ___ over time. ___ failure associated w/ disordered ___ & ___. Wt <___ %ile for age. Wt decreases __ major %iles over any time period & continues to fall. WT LOSS, GROWTH, BEHAVIOR, DEVO, 3RD, 2
Microcephaly: head circ below average b/c ___ or ___. BRAIN HASN'T DEVELOPED PROPERLY, BRAIN HAS STOPPED GROWING
Microcephaly is often c/b ___ abnormalities during ___. It's assoc. w/ ___, ___ & ___ syndromes, prenatal ___ or ___, infection w/ ___ or ___, exposure to ___, or untreated ___. GENETIC, FETAL DEVO, DOWN SYNDROME, CHROMOSOMAL, NEUROMETABOLIC, DRUG, ALCOHOL ABUSE, GERMAN MEASLES, CHICKEN POX, TOXIC CHEMICALS, PKU
Sx of microcephaly include: ___, delayed ___ fxns & ___, facial ___, ___ or ___, ___, ___, difficulty w/ ___ & ___. MR, MOTOR, SPEECH, DISTORTIONS, DWARFISM, SHORT STATURE, HYPERACTIVITY, SEIZURES, COORDINATION, BALANCE
Ear Tags: occasionally assoc w/ ___.Ear Pits: assoc w/ ___ in ___ syndrome. May become a ___ & ___. HEARING LOSS, HEARING LOSS, BRANCHIO-OTO-RENAL, CYST, GET INFECTED
Humans have __/__ deciduous teeth & __/__ adult teeth. Lower central incisors (__) & first molars (__) come in at age __. Eruption of lower central incisors accounts for __ lower/__ upper. 10/10, 16/16, 2, 4, 6-7, 12, 10
Top 3 causes of MR: ___, ___, & ___. D is MC ___ anomaly (___). X is MC ___ (___ - comes from ___). F is MC ___ (___). 1. DOWN (D), 2. FRAGILE X (X), 3. FAS (F), CHROMOSOMAL, NOT GENETIC, INHERITED, GENETIC, MOM, PREVENTABLE & CONGENITAL, TERATOGENIC
Present at birth, but not necessarily hereditary; acquired during fetal devo (Down’s & FAS) CONGENITAL
Passed on from generation -> generation through gametes; same as hereditary GENETIC
Pertaining to chromosomes; such as mechanical error of separation as in Down’s – not necessarily hereditary CHROMOSOMAL
Mitosis is the process by which a cell ___ it's ___ info (___) in order to generate 2, identical ___. It is generally followed immediately by ___, which divides the ___ & the ___. DUPLICATES, GENETIC, DNA, DAUGHTER CELLS, CYTOKINESIS, CYTOPLASM, CELL MEMBRANE
Mitosis & cytokinesis together define the ___ phase of the cell cycle; the division of the ___ into 2 identical ___, ea w/ the ___ of the parent cell. Mitosis occurs exclusively in ___. MITOTIC (M), MOTHER CELL, DAUGHTER CELLS, GENETIC EQUIVALENT, EUKARYOTIC CELLS
S1: ___ & ___ valve closure. ___ murmur occurs before S2 begins. MITRAL, TRICUSPID, SYSTOLIC
S2: ___ & ___ valve closure. ___ murmur occurs before S1 begins again. AORTIC, PULMONARY, DIASTOLIC
S3: at the end of ___. Called a ___ gallop. “Sloshing in” blood rushing into ___ (Tennessee). Associated w/ ___. Normal in ___ & ___. RAPID VETRICULAR FILLING, PROTO-DIASTOLIC, NON-COMPLIANT VENTRICULAR WALL, DILATED CHF, CHILDREN, YOUNG ADULTS
S4: high ___/___. ___ gallop. “A stiff wall” blood being forced into a ___. Sometimes audible in ___. ATRIAL PRESSURE/STIFF VENTRICLE, PRE-SYSTOLIC, STIFF/HYPERTROPHIC VENTRICLE, HEALTHY CHILDREN
Wide pulse pressure: systolic is the force of the ___, diastolic is the ___. W/ WPP heart is pumping ___ against little ___ (___ or ___). Means blood is ___ & difficult to ___. PUMPING, RESISTANCE, HARD, RESISTANCE, VASODILATION, LOW BV, SLUDGY, MOVE
Ritalin is a CNS ___/ ___ agonist. Blocks ___ uptake in ___ terminals of CNS ___ neurons. Main sites of activity = ___, ___, ___ structures of ___. STIMULANT, ADRENERGIC, DOPAMINE, PRESYNAPTIC, ADRENERGIC, BRAINSTEM, CORTEX, SUBCORTICAL, THALAMUS,
Ritalin is used for: ___, ___. Physical dependence is ___ w/ regular clinical use.SE: ___, ___, ___, ___, ↑___ frequency ADHD, NARCOLEPSY, INFREQUENT, ANOREXIA, HA, INSOMNIA, JITTERY, TIC
Pectus excavatum: a ___ that occurs when ___ joining the ___ & ___ grows excessively=> inward depression & malformed sternum. CONGENITAL DISORDER, CT, RIBS, STERNUM
Severe cases of pectus excavatum can cause ___ & ___ disorders, problems ___, & psychological ___. Causes other than isolated defects are ___, & ___. HEART, LUNG, EXERCISING, INSECURITY, GENETICS, RICKETS
Palmar creases devo in ___ wk PG. Abnormal crease suggests early ___ prob & often linked to disorders like ___ & ___. Should have a ___ & ___ crease. ___ crease that curves up to ___ digits is abnormal. ___ crease happens sporadically in ~___ people. 11-12th, DEVO, DOWN'S, FAS, DISTAL, PROXIMAL, HOCKEY PUCK, 2ND & 3RD, SINGLE, 1 IN 30,
Clinodactily: finger curvature deformity; often ___ usually toward ___. __%population, more common in ___, usually ___. May be inherited or part of ___ or devo ___. Often d/t abnormal ___ devo – often abnormal ___. BILATERAL, MIDLINE, ~10%, MALES, PINKY, SYNDROME, DISORDER, SMALL BONE, GROWTH PLATES
Inability to straighten a joint. Occurs from injury to joint or congenital skeletal abnormality. FLEXION CONTRACTURE
Abnormal adhesion and rigidity of the bones of a joint. ANKYLOSED
Rotation of the hands and forearms so that the palms face downward. PRONATION
Fusion of the radius & ulna at their proximal borders. Pts usually present w/ fxnal problems & ↓ed flexibility. PROXIMAL RADIOULNAR SYNOSTOSIS
___ is a known physical finding of FAS. MC benign ___ in infancy (___%): elevated in ___ & ___. HEMANGIOMA, NEOPLASM, 1-3, FEMALES, PREMIES
2 types of hemangiomas: ___ (___): 65% - ___ type, well-defined, bright red nodules. ___: 15% - less distinct ___, raised, ___. Some are combo of both. SUPERFICIAL, STRAWBERRY, CAPILLARY, DEEPER, BORDERS, BLUISH
Hemangiomas develop at ___ weeks, biggest by age ___, disappear by age ___ in 50%, by age ___ in 90%. Consider ___ b/4 tx. 2-4, 1, 5, 9, ANATOMICAL SITE
DTR’s: __ is normal, __ & __ are abnormal 2+. 0, 4+
Rhomberg: tests __. Stand w/ feet __ & arms at __. Pt __ eyes then __ them. __ = + Rhomberg. EQUILIBRIUM, TOGETHER, SIDES, OPENS, CLOSES, FALLING
Babinski: should be __ over 2 yrs old – positive is __ of big toe NEGATIVE, FLEXION
Unable to hop: could be muscle __, also seen in kids w/ FAS is damage to the __, which sends info to the cerebellum about __. WEAKNESS, VERMIS, BALANCE
__ administers foster care in Mo. DSS
Placenta designed to allow __, __, & __ transfer btn mother & fetus, but mom & fetal blood never mix. GAS, NUTRIENT, WASTE
Alcohol is __, __, __, so it easily crosses __ & __. SMALL, FAT SOLUBLE, PARTIALLY NON-POLAR, PLACENTA, BBB
Currently it is believed that __ drinks/day can => __, __, __, __. 2+, LOW BIRTH WT, PRETERM DELIVERY, MISCARRIAGE, PERINATAL MORTALITY
Perinatal period: after __ weeks to __ days after delivery. 22, 7
Alcohol affects on embryo/fetus inc: malformation (MF) of various __ features most likely c/b __ & __ Rs, MF of __ features inc. __ & __. Small __ d/t slowing of __ & __. Long-term use => long term __/__ deficiencies. BRAIN, GABA, NMDA, PHYSICAL, FACE, HEART, BIRTH WT, GROWTH, DEVO, VITAMIN/NUTRITIONAL
GABA is a prominent __ neurotransmitter of the brain. Receptors are very sensitive to __. DEPRESSING, ALCOHOL
NMDA is similar to __ & receptors have a similar response to __. GABA, ALCOHOL
__ receptors significantly respond to alcohol & are believed to be responsible for the __ associated with alcohol. SEROTONIN, NEED
Alcohol-Related Birth Defects (ARBD) are __ & include __, __, __. MORPHOLOGICAL, DYSMORPHISMS, SMALL SIZE, SLOW GROWTH
Alcohol-Related Neurological Disorders (ARND) are __ & __ disorders inc. __ & __. NEUROLOGICAL, COGNITIVE, LEARNING DISABILITIES, LOW IQ
__ barbiturates (like __) can be used during pregnancy, but __ barbiturates are teratogens. SHORT-ACTING, PENTOBARBITAL, REGULAR
Cocaine w/drawal can be treated with __ or __. Women beginning __ in PG can’t quit during PG d/t risk of __. METHODONE, CLONIDINE, METHODONE, FETAL DEATH
Stopping smoke exposure by __ wks gestation greatly lowers problems. Nicotine exposure is associated with higher __ rates, __, __, & __. Avoid nicotine replacement if possible. 16, MISCARRIAGE, ABRUPTION, PRETERM LABOR, LOW BIRTH WT
FAS TRIAD: __ features, __ features, & significant __. Genetics play a role in __. PHYSICAL, BEHAVIORAL, MENTAL RETARDATION, SUSCEPTIBILITY
Neurological problems associated with FAS: defects in fetal neural __ &/or partial-complete absence of __. MIGRATION, CORPUS CALLOSUM
Cerebellar abnormalities associated with FAS: __, __, & agenesis of the __. DYSGENESIS, HETEROTOPIAS, VERMIS
The vermis controls: position & balance of the __. It has both __ & __ neurons so it can check to see that __ are doing what they’re told. TORSO, MOTOR, SENSORY, MUSCLES
Heterotopias is displacement of __ matter usually deep into the __ matter. GREY, WHITE
Neurological & cerebellar abnormalities c/b FAS can be diagnosed by __. MRI
ADD is __ MC in males than females. Sx onset usually ~__; in __. Involves a mismatch between __ & __. 2X, 7Y, ELEMENTARY SCHOOL, IQ, ACHIEVEMENT
To be diagnosed with ADD the Sx must be to a degree that is __ & inconsistent with __, causing impairment in __, __, or __ functioning. MALADAPTIVE, BEHAVIORAL LEVEL, SOCIAL, ACADEMIC, OCCUPATIONAL
GAMETES = __ & __. The only cells in the body produced through the process of __. Everything else divides & develops by __. OOCYTES, SPERMATOCYTES, MEIOSIS, MITOSIS
Producing a duplicate cell or 2 copies of a duplicate cell. MITOSIS
Gives us the opportunity to be genetically unique. MEIOSIS
Cell w/ duplicated DNA material -> 2 daughters = to original cell. MITOSIS
DNA replication occurs in the first somatic division. MEIOSIS
Allows for random assortment of mom’s & dad’s chromosomes that occurs during meiosis. RECOMBINATION
Meiosis can lead to __ abnormalities (Down’s, Turner’s, etc). These abnormalities would occur during the __. NON-DYSJUNCTION, 1ST MEIOTIC DIVISION
Gametes with the wrong __ of chromosomes => chromosome __. If the egg & sperm unite => __. Meiotic disturbance typically happens in chromosome __. In x-over of Meiosis I, incomplete division => __ anomaly that’s usually __. #, ANOMALIES, MISCARRIAGE, CHROMOSOME DIVISION, GENETIC, LETHAL
Primary Germ Cells: __ (or 1o oocyte) & __ (or 1o spermatocyte). __ has a single ring of __ cells. 2o oocyte has __. OOGONIA, SPERMATOGONIA, OOGONIA, GRANULOSA, MORE
Oocyte & polar body have __ number chromosomes, but oocyte will __ & PB __. EQUAL, FERTILIZED, DISCARDED
Challenge 50y theory that menopause = eggs used up: In __, ovarian follicle-type SCs from BM txplantation & peripheral blood cell txfusion could migrate from __, to __, __ it, & make __ oocytes in a sterilized mouse & both -> __ of oocytes from __ ovary VIVO, BM, OVARY, REPOPULATE, FERTILIZABLE, RECOVERY, STERILIZED
Spermatogenesis is the transformation of __ into __. __ cells from __ endoderm divide => __. SPERMATOGONIA, SPERM, PRIMORDIAL GERM, YOLK SAC, SPERMATOGONIA
1o spermatocytes are __ in seminiferous tubules in __ period; increase in number at __ (__). They undergo a __ division forming __ spermatocytes (__ meiotic division) DORMANT, FETAL, PUBERTY, 13-16y, REDUCTION, 2, 1st
2o spermatocytes divide to __ spermatids (__ meiotic division). Spermatids transform into __ (__), which move to __, & are stored in the __. 4, 2nd, MATURE SPERM, SPERMIOGENESIS, SEMINIFEROUS TUBULES, EPIDIDYMIS
Oogenesis is the transformation of __ into __. __ cells from __ endoderm give rise to __. OOGONIA, OOCYTES, PRIMORDIAL GERM, YOLK SAC, OOGONIA
Oogonia (__) arrest at __ before birth. At puberty, when the __ is activated, 1o oocytes with sufficient __ resume __ directed by __. 1o OOCYTES, PROPHASE I, HYPOTHALAMIC-PITUITARY AXIS, FSH RECEPTORS, MEIOSIS I, FSH
__ of the 1st __ forms a __ & completes __. EXTRUSION, POLAR BODY, 2o OOCYTE, MEIOSIS I
The 2o oocyte arrests at __ (__). __ surge elicits __ of __ follicle (the one with the most __). METAPHASE II, OVUM, LH, OVULATION, DOMINANT, LH RECEPTORS
After __, the 2nd __ is __ & the __ oocyte combines with __ sperm. FERTILIZATION, PB, EXTRUDED, HAPLOID, HAPLOID
Female oocyte is always __. Male sperm ends up being __, so it’s the guy’s fault! 23X, 23X or 23Y
Sperm Stats: __ is the magic number! Average ejaculate sperm count: ___/mL. Sperm are __% motile. __% of sperm are morphologically functional. 60, 60 MILLION, 60, 60
It takes about __ to make sperm (spermatogenesis + spermiogenesis). Average, normal male ejaculate volume is __. Average ejaculate sperm count is __. Both can vary from ejaculate to ejaculate. 2m, 1.5-5.5mL, 20-200 MILLION
Subfertile level in terms of sperm motility & sperm morphology is __%. <20
__: any deviation from the human diploid number of 46 chromosomes. __: an individual that is not the exact multiple of the haploid 23 chromosomes. ANEUPLOIDY, ANEUPLOID
The principle cause of aneuploidy is __ during __, resulting in an unequal distribution of the one pair of __ chromosomes to the __. One cell has __ chromosomes and the other has __ chromosome of the pair. NON-DISJUNCTION, MEIOSIS I, HOMOLOGOUS, DAUGHTER CELLS, 2, NEITHER
__ chromosome gamete + __ chromosome gamete = 45, XO. This is a __ called __. 22, 23X, MONOSOMY, TURNER SYNDROME
Significant __ in pregnancy is the #1 cause of congenital malformations in the US. Mechanism may include inhibition of __. Highest risk during __. ALCOHOL CONSUMPTION, CELL MIGRATION, 3-8 WEEKS
MR Dx requires: below a certain level in __, __, & __. INTELLIGENCE, ADAPTIVE BEHAVIORS, MOTOR SKILLS
MR Dx requires: IQ of about __ or below in someone capable of taking IQ test.IQ encompasses: __, __, __ thinking & __, __, __ perception. 70, MEMORY, VOCAB, CONCEPTUAL, ASSOCIATION, COMPUTATION, PATTERN
MR Dx requires: Impairments or deficits for age group in fxning in __ of the following: communication, __, __, __, school, care of __, social, work. Onset of impairment b/4 age __. >2, COMMUNICATION, HEALTH, LEISURE TIME, SAFETY, SELF & HOME, 18
Learning disability: Grp of __ affecting a broad range of __ & __ skills inc. ability to __, listen, __, write, __, do math, reason, & __. DISORDERS, ACADEMIC, FUNCTIONAL, SPEAK, READ, SPELL, ORGANIZE INFO
A learning disability is not indicative of __. People w/ LDs sometimes have difficulty __ at their __ b/c of a deficit in one or more of the ways the brain __. LOW-INTELLIGENCE, ACHIEVING, INTELLECTUAL LEVEL, PROCESSES INFO
Speech impairment can be due to impaired __ of the cerebrum, more frequently due to slower than normal __. SPEECH CENTERS, MATURATION
2/3 children say 1st words btn __, & 1st word combos b/4 __ b-day 9-12 MOS, 2ND
Diazepam for anti-anxiety: thought to be b/c blocks __ & __ arousal following stimulation of __ pathways. CORTICAL, LIMBIC, RETICULAR
Diazepam for muscle relaxation: from inhibiting both __ & __ pathways; can also directly depress __ & __fxn. MONO-, POLYSYNAPTIC, MUSCLE, MOTOR NERVE
Diazepam for anticonvulsant activity: augment __ inhibition of neurons, limiting spread of __. PRE-SYNAPTIC, ELECTRICAL ACTIVITY
Diazepam is highly __, easily xes __, __, & excreted in __. B/c of this it will build up in __ to very high concentrations. LIPID SOLUBLE, BBB, PLACENTA, BREASTMILK, ADIPOSE TISSUE
PG __: (+) evidence of human fetal risk based on adverse rxn data, but potential benefits may warrant use. When used __ in pregnancy, newborns can go thru __. D, LATE, W/D
Dopamine comes from __ of the brain. These neurons are in the __ of the midbrain, the __, __ of hypothalamus. DOPAMINERGIC NEURONS, VENTRAL TEGMENTAL AREA, SN PARS COMPACTA, ARCUATE NUCLEUS
GABA is the main __ NT in CNS. There are 3 classes: A, C = ___, B – __. INHIBITORY, LIGAND-GATED ION CHANNELS, GPT-COUPLED RECEPTOR
NMDA: plays role in “__” (__ & __). NMDA receptors respond to: __ & __. SYNAPTIC PLASTICITY, LEARNING, MEMORY, GLUTAMATE, NMDA
Created by: 16813610