Results 41 to 50 of about 93,387 (264)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Diseases during pregnancy in a large unselected South American sample

Revista Brasileira de Epidemiologia, 2022
Objective: Our aim was to describe the prevalence of diseases during pregnancy and the association between fetal exposure to the most frequent maternal diseases and the risk of preterm (PTB) and/or small for gestational age (SGA) newborns in an ...
María Rita Santos, Hebe Campaña, Silvina Heisecke, Julia Ratowiecki, Darío Elías, Lucas Giménez, Fernando Adrián Poletta, Juan Gili, Rocío Uranga, Viviana Cosentino, Hugo Krupitzki, Mónica Rittler, Jorge López Camelo   +12 more
doaj   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Agreement between Fenton and intergrowth curves in assessing birth weight of preterm infants: Bland-Altman analysis by degree of prematurity and birth weight for gestational age

Jornal de Pediatria
Objective: To assess the agreement between the Fenton and INTERGROWTH charts in classifying birth weight for gestational age in preterm infants, considering prematurity degree and small/adequate/large-for-gestational-age (SGA/AGA/LGA) status individually
Louise P.M. da Cunha, Ana Cecília T. Santiago, Crésio de A.D. Alves   +2 more
doaj   +1 more source

Maternal lipid profile in early pregnancy is associated with foetal growth and the risk of a child born large-for-gestational age: a population-based prospective cohort study

BMC Medicine, 2020
Background Lipids such as cholesterol and triglycerides play an important role in both maternal and foetal energy metabolism. Little is known about maternal lipid levels in pregnancy and their effect on foetal growth.
Maria C. Adank, Laura Benschop, Alet W. Kors, Kelly R. Peterbroers, Anna M. Smak Gregoor, Monique T. Mulder, Sarah Schalekamp-Timmermans, Jeanine E. Roeters Van Lennep, Eric A. P. Steegers   +8 more
doaj   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Gestational weight gain across continents and ethnicity: systematic review and meta-analysis of maternal and infant outcomes in more than one million women

BMC Medicine, 2018
Background The association between Institute of Medicine (IOM) guidelines and pregnancy outcomes across ethnicities is uncertain. We evaluated the associations of gestational weight gain (GWG) outside 2009 IOM guidelines, with maternal and infant ...
Rebecca F. Goldstein, Sally K. Abell, Sanjeeva Ranasinha, Marie L. Misso, Jacqueline A. Boyle, Cheryce L. Harrison, Mary Helen Black, Nan Li, Gang Hu, Francesco Corrado, Hanne Hegaard, Young Ju Kim, Margaretha Haugen, Won O. Song, Min Hyoung Kim, Annick Bogaerts, Roland Devlieger, Judith H. Chung, Helena J. Teede   +18 more
doaj   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Association between pre‐pregnancy body mass index and gestational weight gain and perinatal outcomes in pregnant women diagnosed with gestational diabetes mellitus: The Japan Environment and Children's Study

Journal of Diabetes Investigation, 2022
Aims/Introduction We investigated the association between gestational diabetes mellitus (GDM) and perinatal outcomes stratified by pre‐pregnancy body mass index (BMI) and/or gestational weight gain (GWG).
Yoshihiro Saito, Sumitaka Kobayashi, Atsuko Ikeda‐Araki, Sachiko Ito, Chihiro Miyashita, Takashi Kimura, Takumi Hirata, Akiko Tamakoshi, Michinori Mayama, Kiwamu Noshiro, Kinuko Nakagawa, Takeshi Umazume, Kentaro Chiba, Satoshi Kawaguchi, Mamoru Morikawa, Kazutoshi Cho, Hidemichi Watari, Yoshiya Ito, Yasuaki Saijo, Reiko Kishi, the Japan Environment and Children's Study (JECS) group   +20 more
doaj   +1 more source

Liver Fibrosis in an Extremely Small Infant for Gestational Age

The Tohoku Journal of Experimental Medicine, 2010
Premature infants with intrauterine growth restriction (IUGR) are at greater risk for an adverse perinatal outcome. IUGR affects hepatocyte function, but the histopathological changes in the postnatal liver are not well known. We report a male infant with severe IUGR.
Arai, Hirokazu, Noguchi, Atsuko, Goto, Ryoji, Matsuda, Takefumi, Nakajima, Hatsushi, Takahashi, Tsutomu   +5 more
openaire   +3 more sources