Results 91 to 100 of about 40,620 (232)

Scenario‐Based Guidance for International Growth Standards (GIGS): For Whom, When, and How to Apply the INTERGROWTH‐21st and WHO Child Growth Standards

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective To demonstrate when, for whom, and how to apply the INTERGROWTH−21st (IG‐21st) and WHO Child Growth Standards (WHO GS) using a scenario‐based approach with illustrations utilising a sub‐set of data from a multi‐country low birthweight infant prospective cohort.
Eric O. Ohuma, Simon R. Parker, Sara Strout, Bancy Ngatia, Linda Vesel   +4 more
wiley   +1 more source

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan, Haya S. AlFaris, Lindsey Vogt, Michele Eid, Anika Menetrey, Sayoni Roy Chowdhury, Dawn Codeiro, Pradeep Krishnan, Liali Aljouda, Emily W.Y. Tam, Carolina Gorodetsky   +10 more
wiley   +1 more source

Implications for Newborn and Child Growth Classification Using INTERGROWTH‐21st and WHO Child Growth Standards

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective The aim of this study was to assess how the use of the WHO Child Growth Standards (WHO GS) and the INTERGROWTH‐21st Standards (IG‐21st) affect the classification and interpretation of growth trajectories. Design A secondary data analysis of an observational cohort study.
Linda Vesel, Sara Strout, Simon Parker, Audencio Victor, Bancy Ngatia, Eric O. Ohuma   +5 more
wiley   +1 more source

GLUT1 Deficiency Syndrome with Coexistent Movement Disorder and Anemia

Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan, Haya S AlFaris, Anika Menetrey, Sayoni Roy Chowdhury, Lindsey Vogt, Jolynn Dickson, Karen Owusu, Pradeep Krishnan, Suvasini Sharma, Liali Aljouda, Reena Pabari, Grace Yoon, Carolina Gorodetsky   +12 more
wiley   +1 more source

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

Longitudinal Doppler assessment and perinatal outcomes in early‐set intrauterine growth restriction fetuses

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
In early‐onset fetal growth restriction requiring delivery before 30 weeks, shorter intervals to abnormal ductus venosus and umbilical artery Doppler findings are associated with severe morbidity and mortality, highlighting the prognostic value of longitudinal Doppler assessment.
Edurne Mazarico, Eva Meler, Anna Peguero, Edda Marimon, Núria Prat, David Boada, Alba González, Ana Contreras, Claudia Pumarola, M. Dolores Gomez‐Roig, Francesc Figueras   +10 more
wiley   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Doxapram Exposure Was Not Associated With Adverse Neurodevelopmental Outcomes in Very Low Birth Weight Infants: A Monocentric Retrospective Cohort Study

Acta Paediatrica, EarlyView.
ABSTRACT Aim Doxapram is used as an additional therapy for apnea of prematurity when standard treatments such as caffeine or continuous positive airway pressure are insufficient, but its impact on long‐term neurodevelopment remains uncertain. This study evaluated the association between Doxapram exposure and neurodevelopmental outcomes in very low ...
Thomas Müller, Alexandros Rahn, Sabine Pirr, Corinna Peter, Carolin Böhne, Bettina Bohnhorst   +5 more
wiley   +1 more source

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, EarlyView.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval

Clinical Genetics, EarlyView.
This study reports a female proband with a de novo 9q34.11 deletion affecting SET, who underwent a 28‐year diagnostic odyssey after an atypical Rett syndrome clinical diagnosis. Genomic and proteomics analyses confirmed SET haploinsufficiency, refining the critical 9q34.11 region, and supporting speech therapy benefits in improving meaningful ...
Angelo Condell, Elaine Zhang, Tim Sikora, Sean Massey, Nicole J. Van Bergen, Min Wang, Cas Simons, Katrina M. Bell, Daniella H. Hock, David A. Stroud, David Francis, Wendy A. Gold, Martin B. Delatycki, John Christodoulou, Simranpreet Kaur   +14 more
wiley   +1 more source