Results 101 to 110 of about 257,227 (292)

Application of 4 birthweight curves and local reference range at a University Hospital of Rio de Janeiro, BrazilAJOG Global Reports at a Glance

AJOG Global Reports
BACKGROUND: Numerous fetal growth curves have been developed from various subpopulations and geographic locations worldwide. OBJECTIVE: To determine the birthweight standard at the Maternity School and compare it to currently used standards in the ...
Fabio G. Da Matta, MD, MSc, Karina Bilda de Castro Rezende, MD, PhD, Maria Isabel M.P. Cardoso, MD, MSc, Luiza P. Ladeira, MD, Rita G. Bornia, MD, PhD, Joffre Amim, Jr., MD, PhD   +5 more
doaj   +1 more source

Interpregnancy change in body mass index and infant outcomes in Texas: a population-based study

BMC Pregnancy and Childbirth, 2019
Background Maternal prepregnancy body mass index (BMI) is associated with several infant outcomes, but it is unclear whether these associations reflect causal relationships.
Renata H. Benjamin, Sarah Littlejohn, Mark A. Canfield, Mary K. Ethen, Fei Hua, Laura E. Mitchell   +5 more
doaj   +1 more source

Fetuin-A in Infants Born Small- or Large-for-Gestational-Age

Frontiers in Endocrinology, 2020
Fetuin-A is a multifunctional glycoprotein that has been implicated in insulin resistance and bone metabolism. We assessed whether fetuin-A is associated with poor or excessive fetal growth.
Wen-Juan Wang, Wen-Juan Wang, Shufan Wang, Meng-Nan Yang, Meng-Nan Yang, Yu Dong, Hua He, Fang Fang, Rong Huang, Xiao-Gang Yu, Guang-Hui Zhang, Xia Zhao, Tao Zheng, Xiao-Yi Huang, Jun Zhang, Fengxiu Ouyang, Zhong-Cheng Luo, Zhong-Cheng Luo   +17 more
doaj   +1 more source

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa, Alexandre Rodrigues Ferreira, Adriana Teixeira Rodrigues, Rodrigo Rezende Arantes, Thais Costa Nascentes Queiroz, Elisa de Carvalho, Gilda Porta, Irene Kazue Miura, Maria Tereza Galvão Guiotti, Rafaella Karen Sousa Monterlei, Adriana Maria Alves de Tommaso, Gabriel Hessel, Maria Ângela Bellomo‐Brandão, Roberta Vacari de Alcantara, Maria Julia Rodrigues Teixeira de Araujo, Daniela Góis Meneses, Regina Sawamura, Cibele Dantas Ferreira Marques, Lucas Rocha Alvarenga, Marise Helena Cardoso Tofoli, Ana Cristina Vieira de Melo, Jussara Melo de Cerqueira Maia, Leticia Helena Caldas Lopes, Eleonora Druve Tavares Fagundes   +23 more
wiley   +1 more source

Differences between late preterm and term neonates admitted to neonatal intensive care unit a two-year retrospective study

Journal of Marine Medical Society, 2015
Introduction: Late preterm neonates have been defined as those born between 34 completed weeks to 3 6 weeks and 6 days of gestation. Late preterm neonates though bear close resemblance to full-term neonates in appearance and birth weights; are a special ...
Aniket Anil Parashar, Shankar Narayan
doaj   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Gestational weight gain and risks for adverse perinatal outcomes: A retrospective cohort study based on the 2009 Institute of Medicine guidelines

Taiwanese Journal of Obstetrics & Gynecology, 2015
Objective: To investigate perinatal outcomes according to the 2009 Institute of Medicine (IOM) gestational weight gain (GWG) guidelines. Materials and methods: A retrospective cohort study was conducted among all term, singleton, live births to women who
Tai-Ho Hung, Szu-Fu Chen, Jenn-Jeih Hsu, T'sang-T'ang Hsieh   +3 more
doaj   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source