Warning:
JavaScript is turned OFF. None of the links on this page will work until it is reactivated.
If you need help turning JavaScript On, click here.
This Concept Map, created with IHMC CmapTools, has information related to: Infancy, Childhood Pathology, Infancy, Childhood Perinatal Infections SEPSIS Timing Early-onset -pneumonia, sepsis, mening in 4-5d of life -Group B strep Late-onset -Listeria, Candida require latent period, Infancy, Childhood Birth Weight, Gestational Age Classes: AGA(10-90th %ile), SGA, LGA Preterm=born before 37-38 wks Post-tem=born after 42 wks IMMATURITY OF ORGAN SYSTEMS Lungs: alvs form at 7th mo gest-8 yo -immature w/ cub epith (no flat type I or II) -amniotic debris? prob prenatal resp distress Kidneys:glom formation incomplete (deeper ok) Brain:smooth, no convolutions, poor myelin, -vital centers OK-homeostasis weak though Liver: large b/c extramed hem'sis, fcns adequate, physiologic jaundice (even in NL kids), Infancy, Childhood Congenital Malformations Causes: Genetic: karyotypic aberrations or mutations Trisomy 21-1:1000> Klinefelter>Turner>tri13 -Translocation form of Down is transmissible Single mutations-mendelian - 90% AD or AR -include -dactylys via HOX genes Environmental Viruses:rubella, CMV, HSC, VZV, flu, mumps, HIV Rubella-most risk-1st 8 WKSɮnd 8wks -cataracts, heart defects, deafness CMV-most (-)Sx-most common-2nd TRIMESTER -CNS, MR, microceph, deaf, hep'splen'meg Drugs, chemicals-1% of malformations -thalidomide, folate antagonists, androgens, EtOH, anti-convulsants, warfarin, accutane FAS->growth retard, microceph, ASD, maxillary hypoplasia, short palpepral fissures Radiation->microcephaly, blindness, skull defects, spina bifida Multifactorial-50% of malformations -cleft lip, palate, Infancy, Childhood Birth Weight, Gestational Age Classes: AGA(10-90th %ile), SGA, LGA Preterm=born before 37-38 wks Post-tem=born after 42 wks INTRAUTERINE GROWTH RETARDATION Fetal factors: chrom d/os, congen anoms, infx -mostly triploidy; infx: CMV, rubella, syphilis, toxoplasmosis -usually symmetric (proportional IUGR) Placental:uteroplacental insuff: vasc, infx, previa -ltd nutrients->asymmetric growth, spares brain -Confined placental mosaicism-trisomy 7 mostly MATERNAL: vasc dzs-toxemia, chronic HTN, EtOH, narcotics, heavy cigarette smoking, drugs (antimetabolites, phenytoin), malnutrition esp hypoglycemia, Infancy, Childhood Congenital Malformations DEFORMATIONS-results from mech factors e.g. clubfeet (part of Potter sequence) -esp due to UTERINE CONSTRAINT Maternal: 1st preg, small or bicornuate uterus, leiomyomas Fetal/Placental: oligohydramnios, mult fetuses, Infancy, Childhood Inborn Errors of Metabolism PHENYLKETONURIA - Auto Recessive Classic PKU: SCANDINAVIAN, NOT blacks, Jews -lack Phenylalanine Hydroxylase. no Phe->Tyr (liver) -shunt to phenylpyruvic, -lactic, -acetic acids o-hydroxyphenylacetic acid-excrete thru skin -phenylacetic->musty, mousy odor ->contribute to brain dmg -not always same mutation or presentation -can be benign hyperPHEemia-measure serum PHE -NL at birth ->Phe levels rise-> severe MR by 6mo -1/3 won't ever walk, 2/3 won't talk -seizures, hypopigmented hair, skin, eczema -JUST LIMIT Phe INTAKE! Maternal PKU MOMS w/ PKU not limiting diet->hyperPHEemia -75-90% of their kids born w/ MR, microcephaly, 15% w/ congen heart dz -Phe is teratogenic -restrict Phe intake before conception thru gest If missing dihydropteridine reductase (DHPR) -can't metabolize Tyr or Trp->can't form NTs -can't control w/ simple dietary restriction, Infancy, Childhood Congenital Malformations MALFORMATIONS -intrinsic ABNLities in devel e.g. congen heart defects, anencephaly, Infancy, Childhood Inborn Errors of Metabolism CYSTIC FIBROSIS ABNLly viscid secretions->obstruct organ ducts AUTOSOMAL RECESSIVE-whites -Chromosome 7->CFTR (Cl channel) -most w/ deletion of codon: Phe-position 508 ->ABNL folding (-)Sx to Classic CF presentation: BE, Pancreatic insuff (steatorrhea), male infertility, hepatic fibrosis Infants w/ meconium ileus Sweat glands-decreased Cl reabsorption Airway-reduced Cl secretions into airway ->more Na into cell->more H2O absorbed ->thicker secretions, defective mucocilia ->obstruction, can’t clear bac: S. aureus P. aeruginosa secrete more ALGINATE-mucoid ->host immune->more dmg, not clearing MORPH-Lung and panc involvement (85%) -mild: dilation of exocrine glands -later: plugged glands-> exocrine panc atrophy -malabsorption (fat, vit A) -biliary cirrhosis, salivary duct dilation -PULM most important changes, Infancy, Childhood BIRTH INJURIES Mostly Head, Sk, liver, adrenals, periph nn. Acute or after sequelae (nerves) Clavic fracture>facial nn>brachial plex>intracran >humeral fracture>lacerations LGA at highest risk, esp sk., periph nn. INTRACRAN HEMORR-most common imp't injury -prolonged labor, hemorr d/os, IC vasc anoms -frequently fatal w/ herniation CAPUT SUCCEDANEUM, CEPHELHEMATOMA -very common, insignificant-just diff'ate from Fx, Infancy, Childhood Perinatal Infections TRANSPLACENTAL (Hematologic) INFX -Most parasitic, viral, some bac(Trep, List) -thru chorionic villi -maternal to fetal x-fusion at birth-HIV, HBV Parvovirus B19-fifth dz in mom->abortion TORCH Toxoplama, Other, Rubella, CMV, Herpesvirus ->fever, encephalitis, chorioretinitis, skin lesions, hep'splen'meg, pneumonitis, myocarditis, hemolytic anemia Early->growth and MR, cataracts, cardiac anom, bone defects, Infancy, Childhood Congenital Malformations SEQUENCES-pattern of cascade anoms -explained by ONE defect e.g. Potter Sequence (oligohydramnios) -decreased amn fluid via rupture, UP insuff (maternal HTN, tox), renal agenesis ->Fetal compression->flattened facies, hand, feet positional ABNLities(club), hypoplastic lungs, amnion nodosum, Infancy, Childhood Congenital Malformations SYNDROMES-constellation of congen anoms -pathologically related -BUT not explained by one defect -single etio agent can affect many systems -'disease' when underlying condition known, Infancy, Childhood Birth Weight, Gestational Age Classes: AGA(10-90th %ile), SGA, LGA Preterm=born before 37-38 wks Post-tem=born after 42 wks APGAR SCORE 5-min 0-1-ᡪ% 1st yr mort Apgar=4-ᡌ%; ɲ -ɬ% Doesn't predict long-term neuro HR - over 100=2 Resp effort-good,crying=2 Mm. tone-active motion=2 Response to cath in nostril - cough or sneeze=2 Color-completely pink=2, Infancy, Childhood Congenital Malformations DISRUPTIONS-due to 2ndary destruction/ interference of previously NL organ -extrinsic or intrinsic; NON HERITABLE e.g. amniotic bands (rupture of sac->compress), Infancy, Childhood Inborn Errors of Metabolism GALACTOSEMIA - AUTO RECESSIVE Lactose->gluc, galac in int. villi Rare: lack galactokinase (upstream) -milder... doesn't ->MR Common variant: lack galactose-1-P uridyl transferase (->UDP-galac) ->galac accum in liver, spleen, lens, kidneys, myocard, cere. cortex, RBCs ->shunt to galactitol->accum in tissues CLINICAL- Jaundice/Hep'megaly-fatty-> fibrosis like cirrhosis Cataracts-lens w/ galactitol->swell osmotically -few weeks old CNS-nonspecific-lose nerve cells, gliosis, edema FTT, MR w/in 6-12 mos (not as bad as PKU) V/D Kidney-aminoaciduria from gal, gal-1-P accum -impairs AA transport (reuptake) -increase fulminant E.coli septicemia Dx-enz def in blood cells Tx-remove galactose from diet for 1st 2 years -most pretty NL-no cataracts/liver dmg -often speech d/o, gonadal failure, ataxia, Infancy, Childhood Congenital Malformations Mechanisms of Malformations Timing is very imp't Embryonic period (1st 9wks) 1st 3wks->death or mild injury 3-9wks-TERATOGENESIS (esp 4-5th) Fetal (til birth)-growth retardation, injury HOX genes-limbs, vertebrae, craniofacial EMBRYONIC PATTERNING HOX D-13 mut->synpolydactyly HOX A-13 mut->brachydactyly Upstream: all-trans-retinoic acid -but retinoic acid a teratogen! PAX genes-paired box-xfactors -muts in 2 PAX genes->malformations -ACT SINGLY (unlike HOX), Infancy, Childhood Perinatal Infections TRANSCERVICAL (Ascending) INFX -most bacterial, some viral (HSV-II) -in utero or at birth -fetus infx via inhal. amn fluid or canal -often preterm due to rupture from inflam, PGs from PMNs -usually w/ chorioamnionitis, funisitis (cord) -inhalation often->pneumonia, sepsis, mening