Results 91 to 100 of about 18,979 (223)

Innovative 3D‐bioprinted microfibers in calcium phosphate cement platform with Nell‐1 to activate nerve‐bone axis for synergistic bone, vasculature, and nanofibrous nerve regeneration

Smart Molecules, EarlyView.
A 3D‐bioprinted platform with stem cells activates “nerve‐bone” signaling by enabling the spatiotemporal delivery of Nell‐1. This activation enhances neurovascular and bone regeneration through the CYFIP1 cascade. In rat calvarial defects, the platform doubled bone regeneration and nerve repair and tripled vascular density, resulting in superior ...
Minjia Zhu, Xinyi Li, Jingyi Li, Kan Yu, Zixiang Dai, Le Xiao, Qinrou Zhang, Zihan Jia, Qingchen Qiao, Zeqing Zhao, Ke Zhang, Yuxing Bai   +11 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

Clinical Characteristics and Surgical Decision Making for Infants with Metopic Craniosynostosis in Conjunction with Other Congenital Anomalies

Plastic and Reconstructive Surgery, Global Open, 2013
Background: Metopic craniosynostosis can occur in isolation or in conjunction with other congenital anomalies. The surgical decision making and outcomes between these 2 groups are analyzed. Methods: A retrospective review of all children evaluated in the
Craig B. Birgfeld, MD, Carrie L. Heike, MD, Babette S. Saltzman, PhD, Anne V. Hing, MD   +3 more
doaj   +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

Customized 3D printed helmet in the treatment of metopic craniosynostosis in a 7-month-old infant, a case report

Frontiers in Pediatrics
IntroductionMetopic craniosynostosis results in a deformed skull and hence, impacts brain growth and development. Surgery is usually applied to treat this trigonocephalic head malformation.
Huthaifa Atallah, Rabee Naeem, Amneh Alshawabka, Anas S. Said, Huda Alfatafta, Evelin Derkács, Dorottya Varga, Bálint Molics   +7 more
doaj   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Infertility and Risk of Congenital Anomalies: A Population‐Based Cohort Study

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Fertility treatments have been associated with an increased risk of congenital anomalies. Most studies have compared births conceived through fertility treatment with unassisted conceptions; consequently, these estimates reflect the combined effects of fertility treatment and the underlying infertility, potentially resulting in ...
Bailey Milne, Susan B. Brogly, Jonas Shellenberger, Maria P. Velez   +3 more
wiley   +1 more source

A review of the management of single-suture craniosynostosis, past, present, and future.

Journal of Neurosurgery: Pediatrics, 2019
BACKGROUND Craniosynostosis is a condition in which 2 or more of the skull bones fuse prematurely. The spectrum of the disorder most commonly involves the closure of a single suture in the skull, but it can also involve syndromic diagnoses in which ...
M. Proctor, J. Meara
semanticscholar   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2010-2018, September 2026.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

eLife, 2016
Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is treated surgically in infancy to prevent adverse neurologic outcomes.
Andrew T Timberlake, Jungmin Choi, Samir Zaidi, Qiongshi Lu, Carol Nelson-Williams, Eric D Brooks, Kaya Bilguvar, Irina Tikhonova, Shrikant Mane, Jenny F Yang, Rajendra Sawh-Martinez, Sarah Persing, Elizabeth G Zellner, Erin Loring, Carolyn Chuang, Amy Galm, Peter W Hashim, Derek M Steinbacher, Michael L DiLuna, Charles C Duncan, Kevin A Pelphrey, Hongyu Zhao, John A Persing, Richard P Lifton   +23 more
doaj   +1 more source