Maternal and Child Health Thesaurus Third Edition
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Pregnancy and Prenatal Development Chapter 4
Child Growth and Development Pregnancy and Prenatal Development Chapter 4 Prepared by: Debbie Laffranchini From: Papalia, Olds, Feldman Prenatal Development: Three Stages • Germinal stage – Zygote • Embryonic stage – Embryo • Fetal stage – Fetus • Principles of development: – Cephalocaudal* – Proximodistal* Germinal Stage • Fertilization to 2 weeks • Zygote divides – Mitosis – Within 24 hours, 64 cells – Travels down the fallopian tube, approximately 3 – 4 days – Changes to a blastocyst – Cell differentiation begins • Embryonic disk – Differentiates into two layers » Ectoderm: outer layer of skin, nails, hair, teeth, sensory organs, nervous system, including brain and spinal cord » Endoderm: digestive system, liver, pancreas, salivary glands, respiratory system – Later a middle layer, mesoderm, will develop into skin, muscles, skeleton, excretory and circulatory systems – Implants about the 6th day after fertilization – Only 10% - 20% of fertilized ova complete the task of implantation • 800 billion cells eventually Germinal Stage (cont) • Blastocyst develops – Amniotic sac, outer layers, amnion, chorion, placenta and umbilical cord – Placenta allows oxygen, nourishment, and wastes to pass between mother and baby • Maternal and embryonic tissue • Placenta filters some infections • Produces hormones – To support pregnancy – Prepares mother’s breasts for lactation – Signals contractions for labor – Umbilical cord is connected to embryo • Mother’s circulatory system not directly connected to embryo system, no blood transfers Embryonic Stage: -
Experiences of Rare Diseases: an Insight from Patients and Families
Experiences of Rare Diseases: An Insight from Patients and Families Unit 4D, Leroy House 436 Essex Road London N1 3QP tel: 02077043141 fax: 02073591447 [email protected] www.raredisease.org.uk By Lauren Limb, Stephen Nutt and Alev Sen - December 2010 Web and press design www.raredisease.org.uk WordsAndPeople.com About Rare Disease UK Rare Disease UK (RDUK) is the national alliance for people with rare diseases and all who support them. Our membership is open to all and includes patient organisations, clinicians, researchers, academics, industry and individuals with an interest in rare diseases. RDUK was established by Genetic RDUK is campaigning for a Alliance UK, the national charity strategy for integrated service of over 130 patient organisations delivery for rare diseases. This supporting all those affected by would coordinate: genetic conditions, in conjunction with other key stakeholders | Research in November 2008 following the European Commission’s | Prevention and diagnosis Communication on Rare Diseases: | Treatment and care Europe’s Challenges. | Information Subsequently RDUK successfully | Commissioning and planning campaigned for the adoption of the Council of the European into one cohesive strategy for all Union’s Recommendation on patients affected by rare disease in an action in the field of rare the UK. As well as securing better diseases. The Recommendation outcomes for patients, a strategy was adopted unanimously by each would enable the most effective Member State of the EU (including use of NHS resources. the -
Opsoclonus-Myoclonus Syndrome
OMS Opsoclonus-Myoclonus Syndrome REGISTRY POWERED BY NORD 10 11 Tr io Health © 2019 Trio Health Advisory Group, Inc.; NORD - National Organization for Rare Disorders, Inc. | All rights reserved. © 2019 Trio Health Advisory Group, Inc.; NORD - National Organization for Rare Disorders, Inc. | All rights reserved. Tr io Health Meet OMS Warrior ALEXA What is OMS? OPSOCLONUS-MYOCLONUS SYNDROME General Discussion Opsoclonus-myoclonus syndrome (OMS) is an inflammatory neurological disorder, often occurring as a paraneoplastic syndrome with neurological symptoms being the first sign of an occult tumor. It is characterized by associated ocular, motor, behavioral, sleep, and language disturbances. The onset is oftentimes abrupt and can be relatively severe, with the potential to become chronic unless the appropriate diagnosis and treatment are reached in a timely manner. Signs and Symptoms The component features of OMS include the presence of rapid, seemingly random eye movements in the horizontal, vertical, and diagonal directions (opsoclonus); an unsteady gait or inability to walk or stand (ataxia); and brief, repetitive, shock-like muscle spasms or tremors within the arms, legs, or hands interfering with normal use (myoclonus). Behavioral and sleep disturbances, including extreme irritability, inconsolable crying, reduced or fragmented sleep (insomnia), and rage attacks are common. Difficulty articulating speech (dysarthria), sometimes with complete loss of speech and language, may occur. Additional symptoms, such as decreased muscle tone (hypotonia) and vomiting, have also been noted. Causes The most common cause of OMS in young children is an occult (ie, a small, often hidden) tumor. The symptoms of OMS, as a paraneoplastic syndrome, presumably stem from the immune system attacking the tumor, leading to secondary inflammatory effects on the central nervous system. -
Psykisk Utviklingshemming Og Forsinket Utvikling
Psykisk utviklingshemming og forsinket utvikling Genpanel, versjon v03 Tabellen er sortert på gennavn (HGNC gensymbol) Navn på gen er iht. HGNC >x10 Andel av genet som har blitt lest med tilfredstillende kvalitet flere enn 10 ganger under sekvensering x10 er forventet dekning; faktisk dekning vil variere. Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) AAAS 13666 NM_015665.5 100% Achalasia-addisonianism-alacrimia syndrome OMIM AARS 20 NM_001605.2 100% Charcot-Marie-Tooth disease, axonal, type 2N OMIM Epileptic encephalopathy, early infantile, 29 OMIM AASS 17366 NM_005763.3 100% Hyperlysinemia OMIM Saccharopinuria OMIM ABCB11 42 NM_003742.2 100% Cholestasis, benign recurrent intrahepatic, 2 OMIM Cholestasis, progressive familial intrahepatic 2 OMIM ABCB7 48 NM_004299.5 100% Anemia, sideroblastic, with ataxia OMIM ABCC6 57 NM_001171.5 93% Arterial calcification, generalized, of infancy, 2 OMIM Pseudoxanthoma elasticum OMIM Pseudoxanthoma elasticum, forme fruste OMIM ABCC9 60 NM_005691.3 100% Hypertrichotic osteochondrodysplasia OMIM ABCD1 61 NM_000033.3 77% Adrenoleukodystrophy OMIM Adrenomyeloneuropathy, adult OMIM ABCD4 68 NM_005050.3 100% Methylmalonic aciduria and homocystinuria, cblJ type OMIM ABHD5 21396 NM_016006.4 100% Chanarin-Dorfman syndrome OMIM ACAD9 21497 NM_014049.4 99% Mitochondrial complex I deficiency due to ACAD9 deficiency OMIM ACADM 89 NM_000016.5 100% Acyl-CoA dehydrogenase, medium chain, deficiency of OMIM ACADS 90 NM_000017.3 100% Acyl-CoA dehydrogenase, short-chain, deficiency of OMIM ACADVL 92 NM_000018.3 100% VLCAD -
Prenatal Development
2 Prenatal Development Learning Objectives Conception and Genetics 2.5 What behaviors have scientists observed 2.8 How do maternal diseases and 2.1 What are the characteristics of the zygote? in fetuses? environmental hazards affect prenatal 2.1a What are the risks development? associated with assisted Problems in Prenatal Development 2.8a How has technology changed reproductive technology? 2.6 What are the effects of the major dominant, the way that health professionals 2.2 In what ways do genes influence recessive, and sex-linked diseases? manage high-risk pregnancies? development? 2.6a What techniques are used to as- 2.9 What are the potential adverse effects sess and treat problems in prena- of tobacco, alcohol, and other drugs on Development from Conception to Birth tal development? prenatal development? 2.3 What happens in each of the stages of 2.7 How do trisomies and other disorders of 2.10 What are the risks associated with legal prenatal development? the autosomes and sex chromosomes drugs, maternal diet, age, emotional 2.4 How do male and female fetuses differ? affect development? distress, and poverty? efore the advent of modern medical technology, cul- garments that are given to her by her mother. A relative ties tures devised spiritual practices that were intended to a yellow thread around the pregnant woman’s wrist as cer- B ensure a healthy pregnancy with a happy outcome. emony attendees pronounce blessings on the unborn child. For instance, godh bharan is a centuries-old Hindu cere- The purpose of the thread is to provide mother and baby mony that honors a woman’s first pregnancy. -
Prenatal Alcohol Exposure and Abnormal Brain Development: Insights from Animal Studies
Prenatal alcohol exposure and abnormal brain development: Insights from animal studies Kathleen K. Sulik, Ph.D. Department of Cell Biology and Physiology and Bowles Center for Alcohol Studies, University of North Carolina, Chapel Hill NC, USA With Research Support from NIH/NIAAA and participation in the Collaborative Initiative on Fetal Alcohol Spectrum Disorders http://www.cifasd.org Studies of animal models allow:: Identification of critical exposure periods and dose-response relationships Detailed analyses of affected areas of interest Correlation of structural and functional changes Verification and expansion of diagnostic criteria Virtually all stages of prenatal development are vulnerable to alcohol-induced damage. • First trimester exposures cause major malformations as well as functional changes • Second and third trimester exposures typically yield functional changes in the absence of readily identifiable structural abnormalities The most severe outcomes result from heavy prenatal (especially binge) alcohol exposure. • Due in large part to individual variability in both people and animal models it appears impossible to determine a minimal alcohol exposure level that is safe for every individual. Much of embryogenesis occurs prior to the time that pregnancy is typically recognized Embryo Age = Days After Fertilization Menses (Beginning of Last Normal Day 1 Menstrual Period; LNMP) Day 9 Day 17 14 Days/2 Weeks Post-LNMP Day 22 Day 26 28 Days/4 Weeks Post- LNMP Day 32 ( First Missed Period) 6 Weeks Age Post LNMP = Embryo Age + -
Tests Performed Through Our International Collaboration
Tests performed through our international collaboration Molecular Studies for Inborn Errors of Metabolism A Inborn Errors of Metabolism Defective Gene 1 Acyl - Co A oxidase deficiency ACOX 1 2 Argininosuccinate lyase deficiency ASL 3 Aromatic L – amino acid decarboxylase (AADC) DDC Deficiency 4 Carnitine – acylcarnitine translocase (CACT) CACT Deficiency 5 Primary (systemic) carnitine deficiency OCTN2 6 Carnitine palmitoyltransferase I (CPT1) CPT1A 7 Carnitine palmitoyltransferase 2 (CPT2) CPT2 8 CHILD Syndrome NSDHL 9 Conradi – Hunermann – Happle syndrome EBP (CDPX2) 10 D – Bifunctional protein (DBP) Deficiency DBP, MFE2 11 Desmosterolosis DHCR24 12 Dihydropyrimidinase (DHP) Deficiency DPYS 13 Dihydropyrimidine dehydrogenase (DPD) DPYD Deficiency 14 Ethylmalonaciduria ETHE1 (Ethylmalonic encephalopathy) 15 Fructose intolerance, hereditary ALDOB 16 Galactosemia, classic GALT 17 Galactokinase deficiency GALK1 18 Glutaric aciduria type I (Glutaryl – Co A GCDH dehydrogenase deficiency 19 Glycogen storage disease 0 GYS2 20 Greenberg skeletal dysplasia LBR (Sterol – delta 14 reductase deficiency) 21 GTP cyclohydrolase I deficiency GCH1 22 Hydroxyacyl – Co A dehydrogenase deficiency HADH2 (2 – Methyl – 3 – hydroxybutyryl – CoA dehydrogenase deficiency) 23 Hyper Ig D Syndrome MVK (Mevalonate Kinase deficiency) 24 Hyperoxaluria type I AGXT 25 Isovaleric acidemia IVD 26 Lathosterolosis SC5DL 27 3 – methylglutaconicaciduria type I (3 – AUH methylglutaconyl – CoA hydratase deficiency) 28 Medium – chain – acyl – Co A dehydrogenase ACADM (MCAD) Deficiency -
A-1 Human Growth and Development Unit
A-1 ❐❐❐ Human Growth and Development Unit - 1 : Approaches to Human Development Structure 1.1 Introduction 1.2 Objectives 1.3 Human developments as a discipline from infancy to adulthood. 1.4 Concepts & Principles of development 1.5 Developing Human Stages (Prenatal to Adulthood) 1.6 Nature vs. Nurture 1.7 Demains of Human Development 1.8 References 1.1 Introduction This course exposes student teachers to the study of child and human development in order to gain a better understanding about variations and the influence of socio- cultural-political realities on development. A critical understanding of theoretical perspectives of development would aid in their application in teaching learning process. Through close observation of children in their natural environments the teacher trainee- would be able to situate their theoretical knowledge within realistic frames. This course would also be able to equip the trainees to reflect and critique the normative notions of childhood and adolescence. 1.2 Objectives After studying the Unit 1 the student-teacher will be able to - ••• Explain the process of development from the pre-natal period to adulthood ••• Analyze the typical development of children from birth to five years of age ••• Comprehend the different domains of human development 1.3 Human Developments As A Discipline From Infancy To Adulthood Human development is a multifaceted process and involves different aspects. One aspect involves biological and physical development. The size and complexity of the human 1 body change dramatically between conception and maturity. Another aspect involves cognitive or intellectual abilities and processes. What children know, learn and can remember changes greatly as they grow with the time. -
Genetic Testing Stories
genetic alliance monograph series number 2 Genetic testinG stories nicole exe, ms heather Ferguson, ms, cgc alyson Krokosky samantha sawyer sharon F. terry, ma published by genetic alliance Genetic testinG stories nicole exe, ms heather Ferguson, ms, cgc alyson Krokosky samantha sawyer sharon F. terry, ma published by genetic alliance 1 Genetic Alliance is grateful to the individuals and families who so generously shared their stories. They offer us a model of openness that benefits all. Partial funding for this report was provided by the Genetics and Public Policy Center. The Center is supported at Johns Hopkins University by The Pew Charitable Trusts. Any opinions expressed in this report are those of the author(s) and do not necessarily reflect the views of The Pew Chari- table Trusts or the Genetics and Public Policy Center. This report may not be reproduced or distributed in whole or in part without the permission of the Genetics and Public Policy Center. Funding for this work was also provided by the Health Resources and Services Administration, Maternal Child Health Bureau, Genetics Services Branch, cooperative agreement # 1 U33MC07945-01-00, and Genetic Alliance. 4301 connecticut ave., nW, suite 404 Washington, dc 20008 t: 202.966.5557 F: 202.966.8553 www.geneticalliance.org 2 Table of Contents PREFACE 4 HYPOKALEMIC PERIODIC PARALYSIS Adult 26 CARRIER TESTING 5 HYPOSPADIAS/CHROMOSOMAL DEFECTS Child 27 22Q11.2 DELETION SYNDROME KLINEFELTER SYNDROME Adult 27 Adult/Newborn 5 MEDIUM CHAIN ACYL COA DEHYDROGENASE ADRENOLEUKODYSTROPHY -
Biological and Environmental Foundations and Prenatal Development
Biological and Environmental Foundations and Prenatal Development Learning Objectives Digital Resources 2.1 Describe the process of cell reproduction audio Growth Hormone and patterns of genetic inheritance. 2.2 Define and provide examples of genetic Lives in context Fostering Gross Motor disorders and chromosomal abnormalities. Skills in Early Childhood 2.3 Explain how the dynamic interactions of web Brain-Based Education (p. 172) heredity and environment influence development. FPO Chapter 2 2.4 Discuss the stages of prenatal development, journal Brain Plasticity stages of childbirth, and challenges for infants at risk. 2.5 Identify the principles of teratology, types of Premium Video The Development of teratogens, and ways that teratogens can be used Children’s Drawing Abilities (p. 178) to predict prenatal outcomes. Master these learning objectives with multimedia resources available at edge.sagepub.com/kuther and Lives in Context video cases available in the interactive eBook. oger and Ricky couldn’t be more different,” marveled their mother. “People “Rare surprised to find out they are brothers.” Roger is tall and athletic, with blond hair and striking blue eyes. He spends most afternoons playing ball with his friends and often invites them home to play in the yard. Ricky, two years older than Roger, is much smaller, thin and wiry. He wears thick glasses over his brown eyes that are nearly as dark as his hair. Unlike his brother, Ricky prefers solitary games and spends most afternoons at home playing video games, building model cars, and reading comic books. How can Roger and Ricky have the same parents and live in the same home yet differ markedly in appearance, personality, and preferences? In this chapter, we discuss the process of genetic inheritance and principles that can help us to understand how members of a family can share a great many similarities—and many differences. -
The American Board of Pediatrics® Content Outline
THE AMERICAN BOARD OF PEDIATRICS® CONTENT OUTLINE General Pediatrics In-Training, Certification, and Maintenance of Certification Examinations Effective for examinations administered beginning January 2016 i INTRODUCTION This document was prepared by the American Board of Pediatrics for the purpose of developing certification examinations for general pediatricians. The outline, which was developed by a committee of pediatric practitioners and educators, contains the categories that will be reflected in the general pediatrics examinations. If you have comments or questions about these content specifications, or about how they are used, please send an e-mail to [email protected]. ii General Pediatrics Exam Percentage List Approximate Percent Page I. Growth and Development .................................................... 5.0 ................................... 1 II. Nutrition and Nutritional Disorders ..................................... 4.0 ................................... 2 III. Preventive Pediatrics ............................................................ 5.0 ................................... 5 IV. Poisoning and Environmental Exposure to Hazardous Substances ................................................. 2.0 ................................... 8 V. Fetus and Newborn Infant .................................................... 3.5 ................................... 9 VI. Fluid and Electrolyte Metabolism ........................................ 2.5 ................................. 12 VII. Genetics and Dysmorphology ............................................. -
Conradi-Hünermann-Happle Syndrome (X-Linked Dominant Chondrodysplasia Punctata) Confirmed by Plasma Sterol and Mutation Analysis
Acta Derm Venereol 2008; 88: 47–51 CLINICAL REPORT Conradi-Hünermann-Happle Syndrome (X-linked Dominant Chondrodysplasia Punctata) Confirmed by Plasma Sterol and Mutation Analysis Annette KOLB-MÄURER1, Karl-Heinz GRZESCHIK2, Dorothea HAAS3, Eva-Bettina BRÖCKER1 and Henning HAMM1 1Department of Dermatology, University of Würzburg, Würzburg, 2Department of Human Genetics, University of Marburg, Marburg, 3University Hospital for Paediatric and Adolescent Medicine, Heidelberg, Germany Conradi-Hünermann-Happle syndrome, or X-linked forms to mild, clinically almost undetectable, mani- dominant chondrodysplasia punctata, is a rare genetic festations. The syndrome occurs almost exclusively in disorder characterized by skeletal dysplasia, stippled females and is characterized by skeletal abnormalities, epiphyses, cataracts, transient ichthyosis and atrophic cataracts and characteristic skin lesions. Cutaneous residua in a mosaic pattern. Mutations in the gene enco- involvement typically starts as a severe congenital icht- ding the emopamil-binding protein have been identified hyosis with adherent large scales following the lines of as an underlying cause. A 5-year-old girl presented for Blaschko on an erythrodermic background. Collodion evaluation of ill-defined patches of cicatricial alopecia. baby may precede this typical appearance. After some In addition, subtle follicular atrophoderma, esotropia, months, the ichthyosiform lesions regress and follicular craniofacial asymmetry and short stature were noted. atrophoderma remains. These patchy or linear, atrophic Her history revealed widespread scaly erythema and lesions with follicular accentuation, often on a hypo- or eye surgery for congenital cataract in the first months hyper-pigmented base, are reminiscent of orange-peel of life. Diagnosis of Conradi-Hünermann-Happle syn- skin (2). Mild ichthyosis may persist, particularly on the drome was confirmed by plasma sterol analysis showing limbs.