Results 41 to 50 of about 117,613 (171)

Developmental and epileptic encephalopathy 89: A novel bi‐allelic variant, molecular dynamics simulation, and a comprehensive clinical and molecular profile

Epilepsia Open, Volume 8, Issue 2, Page 571-585, June 2023., 2023
Abstract Objective Gamma‐aminobutyric acid (GABA), the major inhibitory neurotransmitter in the adult central nervous system, plays an important role during embryonic neural network formation. GAD67 is the rate‐limiting enzyme in GABA synthesis, and its deficiency leads to developmental and epileptic encephalopathy 89 (DEE 89).
Erfan Khorram, Masoomeh Amini, Mehdi Khorrami   +2 more
wiley   +1 more source

Facial asymmetry in children with either unilateral lambdoid craniosynostosis or positional posterior plagiocephaly

Orthodontics &Craniofacial Research, Volume 26, Issue 2, Page 216-223, May 2023., 2023
Abstract Background In unilateral lambdoid craniosynostosis (ULC), the posteriorly situated lambdoid suture of the cranial vault fuses prematurely. Positional posterior plagiocephaly (PPP) causes flattening of the posterior side of the head, either through external forces or through underlying differences in brain development.
Tuuli Nevaste‐Boldt, Anne Saarikko, Laura Kaprio, Junnu Leikola, Anu Kiukkonen   +4 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

Belimumab use during pregnancy: Interim results of the belimumab pregnancy registry

Birth Defects Research, Volume 115, Issue 2, Page 188-204, January 15, 2023., 2023
Abstract Background Belimumab is approved for active, autoantibody‐positive systemic lupus erythematosus (SLE) and lupus nephritis, but limited data exist regarding its use in pregnancy. The Belimumab Pregnancy Registry (BPR, GSK Study BEL114256; NCT01532310) was created to evaluate pregnancy and infant outcomes following belimumab exposure.
Patricia Juliao, Keele Wurst, Jeanne M. Pimenta, Kim Gemzoe, Helain Landy, M. Anthony Moody, Hugh Tilson, Deborah Covington, Tammy Moore, Rebecca Marino, Jennifer Gilbride, Andrew Liu, Paige Meizlik, Michelle Petri   +13 more
wiley   +1 more source

Aesthetic Correction of Severe Facial Asymmetry in a Deformational Plagiocephaly Patient: A Case Report and Literature Review [PDF]

Archives of Aesthetic Plastic Surgery, 2017
Deformational plagiocephaly (DP) (also referred to as positional plagiocephaly) has long posed challenges for plastic surgeons because it is difficult to differentiate from several other diseases, such as unilateral coronal synostosis, hemifacial ...
Jae Yeon Park, Hyo Joong Kim, Seil Lee, Sung Gyun Jung   +3 more
doaj   +1 more source

Association between Folic Acid Supplementation and Hypertensive Disorder Complicating Pregnancy in Jiangsu Province: A Cross‐Sectional Study

Evidence-Based Complementary and Alternative Medicine, Volume 2022, Issue 1, 2022., 2022
Objectives. To investigate the association of folic acid (FA) supplementation with hypertensive disorder complicating pregnancy (HDCP) and preeclampsia in Jiangsu Province, China. Materials and Methods. In this cross‐sectional study, a total of 10,662 women with infants born between January 2017 and December 2018 were enrolled in Jiangsu Province ...
Jing Cong, Danhua Pu, Rongrong Tan, Xiaoyun Ge, Weipei Zhu, Cai-e Shen, Jianfen Ge, Xiucui Luo, Juan Liu, Jie Wu, Shuli Yang   +10 more
wiley   +1 more source

Central apnea and periodic breathing in children with underlying conditions

Journal of Sleep Research, Volume 30, Issue 6, December 2021., 2021
Summary Central sleep apneas and periodic breathing are poorly described in childhood. The aim of the study was to describe the prevalence and characteristics of central sleep apnea and periodic breathing in children with associated medical conditions, and the therapeutic management.
Sergio Ghirardo, Alessandro Amaddeo, Lucie Griffon, Sonia Khirani, Brigitte Fauroux   +4 more
wiley   +1 more source

Abnormal Bone Collagen Cross‐Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound Heterozygous PLOD2 Mutations

JBMR Plus, Volume 5, Issue 3, March 2021., 2021
ABSTRACT Bruck syndrome (BS) is a congenital disorder characterized by joint flexion contractures, skeletal dysplasia, and increased bone fragility, which overlaps clinically with osteogenesis imperfecta (OI). On a genetic level, BS is caused by biallelic mutations in either FKBP10 or PLOD2.
Charlotte Gistelinck, MaryAnn Weis, Jyoti Rai, Ulrike Schwarze, Dmitriy Niyazov, Kit M Song, Peter H Byers, David R Eyre   +7 more
wiley   +1 more source

Evaluation of the Effects of Helmet Therapy on Head Deformities: A Systematic Review of Literature

Journal of Head & Neck Physicians and Surgeons, 2023
Plagiocephaly is a common deformity of the skull. Various treatment approaches have been used for the subjects with head deformities, including use of helmet orthosis, repositioning, exercise, and only observation. The aim of this review was to check the
Mohammad Taghi Karimi, Mahsa Kavyani
doaj   +1 more source

Management of positional plagiocephaly—helmet or no helmet? [PDF]

Child's Nervous System, 2014
Dear Editor: The “Back to Sleep Campaign” to prevent sudden infant death syndrome has led to a significant increase in the incidence of positional plagiocephaly. This clinical entity with an abnormal head shape is not the result of craniosynostosis, which represents a premature closure of cranial sutures, but rather a purely cosmetic problem caused by ...
Jenny B, Smoll NR, Rilliet B, Gautschi OP   +3 more
openaire   +4 more sources