Results 21 to 30 of about 2,476,919 (362)

Small for gestational age and obesity: epidemiology and general risks [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2018
Children born small for gestational age (SGA) have several life-long consequences. Previous epidemiological studies investigated from childhood to adulthood reported that a number of chronic diseases originate in the prenatal period.
Hyo-Kyoung Nam, Kee-Hyoung Lee
doaj   +1 more source

Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 37-51, January 2023., 2023
Abstract Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder (HCTD) characterized by arterial dissection/aneurysm/rupture, sigmoid colon rupture, or uterine rupture. Diagnosis is confirmed by detecting heterozygous variants in COL3A1.
Tomomi Yamaguchi, Shujiro Hayashi, Daisuke Hayashi, Takeshi Matsuyama, Norimichi Koitabashi, Kenichi Ogiwara, Masaaki Noda, Chiai Nakada, Shinya Fujiki, Akira Furutachi, Yasuhiko Tanabe, Michiko Yamanaka, Aki Ishikawa, Miyako Mizukami, Asako Mizuguchi, Kazumitsu Sugiura, Makoto Sumi, Hirokuni Yamazawa, Atsushi Izawa, Yuko Wada, Tomomi Fujikawa, Yuri Takiguchi, Keiko Wakui, Kyoko Takano, Shin‐Ya Nishio, Tomoki Kosho   +25 more
wiley   +1 more source

Hypoglycemic status in low birth weight neonates during first 24 hours of life after birth

Journal of Rawalpindi Medical College, 2021
Objective: The study aimed to determine the frequency of hypoglycemia in low birth weight neonates during the first 24 hours of life after birth. Materials and Methods: This cross-sectional study was conducted from 1st March 2016 to 31st August 2016 ...
Sundus Khan, Sohail Ashraf, Somaya Siddiqa, Sobia Noor, Munazza Saleem   +4 more
doaj   +1 more source

Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 183-189, January 2023., 2023
Abstract Coffin‐Siris syndrome (CSS, OMIM#135900) is a rare congenital disorder associated with neurodevelopmental and dysmorphic features. The primary cause of CSS is pathogenic variants in any of 9 BAF chromatin‐remodeling complex encoding genes or the genes SOX11 and PHF6. Herein, we performed whole‐exome sequencing (WES) and a series of analyses of
Qiuquan Wang, Jie Wu, Jinyuan Yang, Shasha Huang, Yongyi Yuan, Pu Dai   +5 more
wiley   +1 more source

Comparison of application of Fenton, Intergrowth-21st and WHO growth charts in a population of Polish newborns

Clinical and Experimental Obstetrics & Gynecology, 2021
Background: Growth charts are the primary tools for evaluating neonatal birth weight and length. They help and qualify the neonates as Appropriate for Gestational Age (AGA), Small for Gestational Age (SGA), or Large for Gestational Age (LGA).
Dominik Jakubowski, Daria Salloum, Marek Maciejewski, Magdalena Bednarek-Jędrzejek, Anna Kajdy, Aneta Cymbaluk-Płoska, Ewa Kwiatkowska, Andrzej Torbé, Sebastian Kwiatkowski   +8 more
doaj   +1 more source

Further characterization of NFIB‐associated phenotypes: Report of two new individuals

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 540-545, February 2023., 2023
Abstract Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23‐p22.3 containing NFIB.
Gemma Marinella, Eugenia Conti, Bianca Buchignani, Giada Sgherri, Rosa Pasquariello, Flavio Giordano, Paola Cristofani, Roberta Battini, Agatino Battaglia   +8 more
wiley   +1 more source

Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 332-337, February 2023., 2023
Abstract GTF2IRD1, a gene on chromosome 7 which encodes a transcription factor, is of significant clinical interest due to its heterozygous loss as part of the classical deletion associated with Williams–Beuren syndrome (WBS). However, biallelic variants in GTF2IRD1 alone as part of an autosomal recessive disease have not been previously reported. Here,
Christopher Thomas Cummings, Lois Janelle Starr   +1 more
wiley   +1 more source

Small for gestational age: Case definition & guidelines for data collection, analysis, and presentation of maternal immunisation safety data. [PDF]

, 2017
Need for developing case definitions and guidelines for data collection, analysis, and presentation for small for gestational age (SGA) as an adverse event following maternal immunisation Small for gestational age (SGA) fetuses or newborns are those ...
Bardají, A, Black, S, Boghossian, NS, Brighton Collaboration Small for Gestational Age Working Group, Khalil, A, Kochhar, S, Mousa, H, Munoz, FM, Nesin, M, Nisar, MI, Pool, V, Schlaudecker, EP, Spiegel, HML, Tapia, MD   +13 more
core   +3 more sources

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023
Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow   +21 more
wiley   +1 more source

Which growth standards should be used to identify large- and small-for-gestational age infants of mothers with type 1 diabetes? A pre-specified analysis of the CONCEPTT trial

BMC Pregnancy and Childbirth, 2021
Background Offspring of women with type 1 diabetes are at increased risk of fetal growth patterns which are associated with perinatal morbidity. Our aim was to compare rates of large- and small-for-gestational age (LGA; SGA) defined according to ...
Claire L. Meek, Rosa Corcoy, Elizabeth Asztalos, Laura C. Kusinski, Esther López, Denice S. Feig, Helen R. Murphy, On behalf of the CONCEPTT collaborative group   +7 more
doaj   +1 more source