NUR 682 Final Exam 2025

Leading cause of diarrhea globally? - -Rotavirus Leading cause of pneumonia globally? - -Streptococcus pneumoniae Most effective way to improve health of children globally? - -IMMUNIZATIONS What contributes to severity of diarrhea in pediatrics? - -Zinc deficiency -Deficiency of vitamin A -Suboptimal breastfeeding Which country has the highest rate of death in the first day of life among the 27 industrialized nations? - -UNITED STATES Preterm births- born before how many weeks gestation? - -37 weeks Race/ethnicity and preterm birth rates - - 1) African American moms = 16.5% 2) American Indian or Alaska native moms = 13.3% 3) Hispanic moms = 11.6% 4) White moms = 10.3% 5) Asian or pacific islander moms = 10.2% The Millennium Project's goal regarding preterm birth rates - -Reduction by at least 2/3 by 2016 in 27 countries Chronic diseases that can develop due to increased Adverse Childhood Events? - - Obesity -Heart disease -Alcoholism -Substance abuse What is the single strongest predictor of quality of care for children in the US? - -Lack of health insurance Standardized screening tests specific to development are recommended at least at which ages? - - **9 months 18 months 24-30 months Screening is considered what type of contact? - -First-level contact NURS 682 When is a developmental assessment required? - -When a definitive diagnosis is required; assessments confirm a developmental problem, identify the type of problem, describe the level of functioning, and provide anticipatory guidance and appropriate referrals Maternal depression in the first year of life can result in what? - -***Poorer language development at 3 years old*** -Asthma ! -Infant avoidant & disorganized attachment patterns -Externalizing behavior problems during toddlerhood -Internalizing & externalizing behavior problems in preschoolers -Conduct problems in adolescents The purpose of a genogram? - -**To understand the family's structure & function** ^NOT to understand family's genetic risk factors! This requires a GENETIC PEDIGREE What is the newest vital sign? - -***How many children's book are in the home!*** -- determines health literacy ^should be 10 or more!! Psychosocial screening tests for adolescents - -SSHADESS & CRAFFT SSHADESS - -Strengths School Home Activities Drugs/substance abuse Emotions/depression Sexuality Safety CRAFFT - -Part A: In the past year did you drink any alcohol, smoke weed, or use anything else to get high? Part B: If no -- have you ridden in a Car driven by someone under the influence? NURS 682 NURS 682 NURS 682 If yes -- Relax (is it used to relax or feel better about yourself?) Alone (do you ever use alone?) Forget (do you ever forget things while using?) Family/Friends (do they ever tell you to cut down?) Trouble (have you ever gotten into trouble while using?) Avoiding diagnostic errors- test-retest - -When seeing an abnormal finding, look for the physical finding a second time Avoiding diagnostic errors- interrater reliability - -Ask someone else to confirm the abnormal finding Avoiding diagnostic errors- internal consistency - -If there is significant variation in findings, consider a measuring error before looking for a health problem Intrapersonal (define) - -Understanding ourselves as unique cultural beings Interpersonal (define) - -How cultural competence is manifested between individuals Genome (define) - -An individual's total DNA package Genotype (define) - -An individual's collection of genes Phenotype (define) - -The physical manifestation of an individual's genotype What does the information carried within the DNA dictate? - -What protein will be synthesized What are the bases of nucleotides? - -Adenine -- Thymine (A-T) Cytosine -- Guanine (C-G) The base sequences of any two human genomes are thought to be how identical? - 99.9% Each chromosome = - -a strand of DNA How many chromosomes are in each human cell (- gametes) ? - -46 chromosomes organized into 23 pairs ^22 pairs = autosomes 1 pair = sex chromosomes Karotype (define) - -The picture of human chromosomes lined up in pairs; used to identify & evaluate size, shape, & number of chromosomes NURS 682 NURS 682 Ideogram (define) - -A diagram that shows a chromosome's size and banding pattern Arms of a chromosme - -p= short arm q= long arm Codon (define) - -A gene/specific coding sequence of DNA organized into small blocks of three letters Telomeres (define) - -Protective caps at the ends of each chromosome that contain specific repetitive sequences of noncoding DNA One gene/codon codes how many proteins? - -3 on average How many codons are there? - -64 Allele (define) - -One copy of a gene; each human inherits two copies of the same gene (one from each parent) with each having differences in DNA sequence Homozygous (define) - -Having two of the same/similar alleles for a gene Heterozygous (define) - -Having different alleles for a gene Exons (define) - -Coding sequences on a gene Introns (define) - -Non-coding sequences on a gene that separate exons Locus (define) - -A specific location on a chromosome Mutation (define) - -An allele that is found in less than 1% of the population -OR- A disease-causing variation of a gene Polymorphism (define) - -An allele found in greater than 1% of the population -OR- A normal variation of a gene that does not directly cause disease SNP (single nucleotide polymorphism) [define] - -A single base pair alteration that is common in a given population ^they help to identify individuals at increased risk for multifactorial disease or adverse drug reactions Point mutations (define) - -Single base pair changes occurring on a nucleotide ^responsible for many single-gene genetic disorders (ex. sickle cell, cystic fibrosis, etc.) NURS 682 NURS 682 Nucleotide repeat expansion (define) - -A mutation that increases the number of times the short DNA sequence is normally repeated. When the number of repeats increases beyond the normally tolerated limit, a genetic disorder results (ex. fragile X syndrome) Copy number variation (define) - -Involves larger areas of chromosomes & provide the genetic basis for common psycho-behavioral diseases (ex. mental retardation, autism, schizophrenia, etc.) Chromosome mutations (define) - -Occur when even larger segments of a chromosome (involving many bands) are deleted, duplicated, rearranged, or translocated (ex. Down syndrome) Monogenetic disorders (define) - -Occur when the mutation affects a single gene (can be autosomal dominant/recessive or X-linked dominant/recessive) Chromosome disorders (define) - -Occur with changes in the number or structure of an entire chromosome or large segment of it ^**NOT passed from one generation to the next!!** Multifactorial disorders (define) - -Result from a combination of genetic and environmental factors Teratogen (define) - -Any agent that results in or increases the incidence of a congenital malformation Mitochondrial disorders (define) - -Caused by mutations in mitochondrial DNA; typically cause progressive disorders affecting the brain and muscles ^**exclusively maternal transmission** Autosomal dominant (define) - -Characterized by the inheritance of a single copy of a mutated gene located on one of the autosomal chromosomes (chromosome 1-22) ^**offspring has a 50% risk** Autosomal recessive (define) - -Characterized by the inheritance of two copies of a mutated gene (one from each parent) located on one of the autosomal chromosomes ^**25% of offspring are affected** **50% of offspring are carriers** **25% of offspring do not inherit any mutation** X-linked dominant (define) - -A single abnormal gene on the X chromosome gives rise to the disease NURS 682 NURS 682 X-linked dominant (% of affected offspring with affected dad) - -Daughters have 100% risk Sons have 0% risk X-linked dominant (% of affected offspring with affected mom) - -**All offspring has a 50% risk** X-linked recessive (define) - -Two copies of a mutated gene are necessary, one on each X chromosome ^usually occurs in males X-linked recessive (% of affected offspring with affected dad) - -Daughters have a 100% risk of being carriers Sons have a 0% risk X-linked recessive (% of affected offspring with affected/carrier mom) - -Daughters have a 50% risk of being carriers Sons have a 50% risk of being affected Mitochondrial inheritance (define) - -Mothers alone can pass on mitochondrial mutations because only egg cells contribute mitochondria to the developing embryo ^Males are more severely affected compared with females Codominant inheritance (define) - -When 2 different alleles for a gene can be expressed and different combinations result in slightly different proteins (ex. blood type) Genomic imprinting (define) - -Genes are imprinted as being from either the maternal or paternal DNA, usually both are active but sometimes only 1 is active Improper imprinting results in having 2 active copies or 2 inactive copies of a gene Uniparental disomy (define) - -When a child receives 2 copies of one chromosome or part of a chromosome from one parent and none from the other parent ^the child will be homozygous for every gene located on that chromosome, increasing the risk of an autosomal recessive disorder being shown Exs. Prader-Willi & Angelman syndromes Epigenetics (define) - -The study of changes in gene function that occur without a change in DNA sequence; the regulation of which genes get turned on and off **Unlike the genome, the epigenome is modifiable** NURS 682 NURS 682 Which disorders are caused by epigenetic changes that occur during childhood? - - Obesity -Hypertension -Heart disease Which day did the U.S. Surgeon General declare as the ideal day to investigate/update one's family health history? - -Thanksgiving What is a valuable visual record of genetic links & health-related information? - -Three generation pedigree What should be included in a three-generation pedigree? -