Showing 1 – 20 of 446
Relevance | Newest | Oldest |
  • JAMA Pediatrics October 1, 2016

    Figure 1: Diagram Summarizing the Biosynthesis of Thyroid Hormone and Correlations With Thyroid Disorders

    Thyroid hormone synthesis begins with iodide uptake by thyroid follicular cells via the sodium-iodide symporter (NIS), a protein that is regulated by thyrotropin (thyroid stimulating hormone; [TSH]) as well as iodine status. Iodide is transported across the apical membrane via pendrin and subsequently oxidized by thyroid peroxidase (TPO) using endogenously generated H2O2. The TPO-mediated iodination of tyrosine residues on thyroglobulin (Tg) forms mono- and diiodotyrosines (MIT and DIT), which then couple to form T3 (1 MIT plus 1 DIT) or T4 (2 DITs). T3 and T4 attached to Tg are stored as colloid in the follicular lumen. T3 and T4 are released from the thyroid follicular cell after endocytosis and proteolysis of the Tg-bound T3 and T4. Congenital hypothyroidism may be secondary to mutations in multiple genes associated with thyroid hormone biosynthesis. Autoimmune hypothyroidism (Hashimoto thyroiditis) is usually associated with antibodies against TPO and/or TG. These autoantibodies indicate immune activation against the thyroid gland and damage to thyroid follicular cells. In autoimmune hyperthyroidism (Graves disease), thyroid-stimulating immunoglobulins (TSIs) bind to the TSH receptor resulting in dysregulated overproduction of T3 and T4.
  • JAMA Pediatrics October 1, 2016

    Figure 2: Path of Embryologic Descent of the Thyroid Gland and Postembryonic Neck Anatomy

    The thyroid gland develops in the pharyngeal floor, the lateral portion from neural crest cells and the larger median portion from the primitive pharynx. It migrates from the foramen cecum through the thyroglossal duct along a path anterior to the hyoid bone, reaching its mature shape and location inferior to the cricoid cartilage by the seventh week of gestation. Failure to complete migration may be secondary to mutations in several genes (Table 1). Aberrant ectopic thyroid tissue may be found anywhere along the path of descent, including within the tongue (lingual thyroid). Persistence of the inferior portion of the thyroglossal duct results in the formation of the pyramidal lobe of the thyroid. Failure of the thyroglossal duct to involute may be associated with formation of a thyroglossal duct cyst, a structure that may harbor aberrant, and even the only, thyroid tissue.
  • Genetic Differential Susceptibility to Socioeconomic Status and Childhood Obesogenic Behavior: Why Targeted Prevention May Be the Best Societal Investment

    Abstract Full Text
    free access
    JAMA Pediatr. 2016; 170(4):359-364. doi: 10.1001/jamapediatrics.2015.4253

    This cohort study investigates whether children carrying the 7-repeat allele of the DRD4 gene living under adverse economic conditions have different fat intakes than those living in a healthy environment.

  • The Differential Susceptibility Hypothesis: Sensitivity to the Environment for Better and for Worse

    Abstract Full Text
    JAMA Pediatr. 2016; 170(4):321-322. doi: 10.1001/jamapediatrics.2015.4263
  • Genetic Epidemiology and Nonsyndromic Structural Birth Defects: From Candidate Genes to Epigenetics

    Abstract Full Text
    JAMA Pediatr. 2014; 168(4):371-377. doi: 10.1001/jamapediatrics.2013.4858

    Hobbs and coauthors report on the current state of the genetic epidemiology of birth defects and comment on future challenges and opportunities. They consider issues of study design and discuss common variant approaches, including candidate gene studies and genome-wide association studies. They also discuss the complexities embedded in exploring interactions between genes and the environment.

  • JAMA Pediatrics October 1, 2013

    Figure: Gene Expression Patterns Discriminate Viral vs Bacterial Infections

    A, Set of 35 genes that discriminates patients with viral infections (influenza A; green) and bacterial infections (Escherichia coli and Streptococcus pneumoniae; red). The discriminative pattern is shown by the gene expression patterns in the heat map (red indicates overexpressed genes; blue, underexpressed genes). B, The diagnostic signature was tested in an independent set of patients that confirmed its accuracy. K-NN indicates nearest neighbor algorithm.
  • Terminology Used to Describe Vascular Anomalies—Reply

    Abstract Full Text
    Arch Pediatr Adolesc Med. 2010; 164(2):203-205. doi: 10.1001/archpediatrics.2009.275
  • Lipoprotein(a) Levels in Obese Portuguese Children and Adolescents: Contribution of the Pentanucleotide Repeat (TTTTA)n Polymorphism in the Apolipoprotein(a) Gene

    Abstract Full Text
    Arch Pediatr Adolesc Med. 2009; 163(4):393-394. doi: 10.1001/archpediatrics.2009.17
  • JAMA Pediatrics November 1, 2002

    Figure 3: A Recurring FBN1 Gene Mutation in Neonatal Marfan Syndrome

    Sequence analysis of the region of the fibrillin 1 gene (FBN1) containing the T3277C mutation in the patient (A) and a normal control individual (B). The sequence shown is of the reverse strand, and the position of the mutation is indicated by the arrow.
  • JAMA Pediatrics November 1, 2001

    Figure: The Other Human Genome

    Map of the human mitochondrial genome. The structural genes for the mitochondrial DNA–encoded subunits of nicotinamide adenine dinucleotide [NADH]–coenzyme Q oxidoreductase (ND), cytochrome c oxidase (COX), cytochrome b (Cyt b), and adenosine triphosphate synthase (A8 and A6), in addition to the 12S and 16S ribosomal RNAs (rRNA) and the amino acids specified by the 22 transfer RNAs are shown.
  • The Other Human Genome

    Abstract Full Text
    free access
    Arch Pediatr Adolesc Med. 2001; 155(11):1210-1216. doi: 10.1001/archpedi.155.11.1210
  • Testing Adolescents for a Hereditary Breast Cancer Gene (BRCA1): Respecting Their Autonomy Is in Their Best Interest

    Abstract Full Text
    Arch Pediatr Adolesc Med. 2000; 154(2):113-119. doi: 10.1001/archpedi.154.2.113
  • Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

    Abstract Full Text
    open access online first
    JAMA Pediatr. 2017; :e173438. doi: 10.1001/jamapediatrics.2017.3438

    This study analyzes the diagnostic yield and use of clinical exome sequencing in 278 infants predominantly in intensive care units at a single tertiary institution in the first 100 days of life.

  • Socioeconomic Disparities in Childhood Obesity Risk: Association With an Oxytocin Receptor Polymorphism

    Abstract Full Text
    JAMA Pediatr. 2017; 171(1):61-67. doi: 10.1001/jamapediatrics.2016.2332

    This cohort study examines whether an oxytocin receptor polymorphism interacts with socioeconomic status and tests whether carriers of the A allele of the OXTR gene are most sensitive to the effects of socioeconomic status on anthropometry.

  • Early-Life Epilepsies and the Emerging Role of Genetic Testing

    Abstract Full Text
    JAMA Pediatr. 2017; 171(9):863-871. doi: 10.1001/jamapediatrics.2017.1743

    This cohort study of children with newly diagnosed epilepsy assesses patterns of use and diagnostic yield of genetic testing for early-life epilepsies.

  • Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

    Abstract Full Text
    is active quiz
    JAMA Pediatr. 2017; 171(9):855-862. doi: 10.1001/jamapediatrics.2017.1755

    This study investigates the influence of whole-exome sequencing in sequencing-naive children suspected of having a monogenic disorder and evaluates its cost-effectiveness if whole-exome sequencing had been available at different time points in their diagnostic trajectory.

  • Association Between Breast Milk Bacterial Communities and Establishment and Development of the Infant Gut Microbiome

    Abstract Full Text
    JAMA Pediatr. 2017; 171(7):647-654. doi: 10.1001/jamapediatrics.2017.0378

    This longitudinal cohort study evaluates the microbial colonization of the infant gut in breastfed compared with nonbreastfed infants.

  • Risk Factors Associated With Pediatric Acute Recurrent and Chronic Pancreatitis: Lessons From INSPPIRE

    Abstract Full Text
    free access
    JAMA Pediatr. 2016; 170(6):562-569. doi: 10.1001/jamapediatrics.2015.4955

    This cross-sectional study describes risk factors associated with acute recurrent pancreatitis and chronic pancreatitis in children.

  • Capitalizing on Advances in Science to Reduce the Health Consequences of Early Childhood Adversity

    Abstract Full Text
    JAMA Pediatr. 2016; 170(10):1003-1007. doi: 10.1001/jamapediatrics.2016.1559

    This Special Communication emphasizes the need to develop practices and policies to address adverse childhood experiences from the prenatal period through the first 3 years of life to prevent and manage stress-related disorders.