Results 41 to 50 of about 9,125 (154)

Frontofacial Features of Unilateral Lambdoid Craniosynostosis: A Multicenter Assessment

Plastic and Reconstructive Surgery, Global Open, 2023
Background:. Unilateral lambdoid craniosynostosis is differentiated from deformational plagiocephaly primarily by assessing the cranium from posterior and bird’s-eye views.
Jonathan Lee, MD, Sanjay Naran, MD, Daniel Mazzaferro, MD, Ari Wes, MD, Erin E. Anstadt, MD, Jesse Taylor, MD, Jesse Goldstein, MD, Scott Bartlett, MD, Joseph Losee, MD   +8 more
doaj   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Sp1-activated FGFR2 is involved in early-life exposure to nickel-induced craniosynostosis by regulating the ERK1/2 signaling pathway

Environment International
Nickel, a common environmental hazard, is a risk factor for craniosynostosis. However, the underlying biological mechanism remains unclear. Here, we found that early-life nickel exposure induced craniosynostosis in mice.
Zhenkun Weng, Cheng Xu, Xiu Chen, Qing Yan, Zuqiang Fu, Jian Jiao, Jin Xu, Qian Liu, Dongmei Wang, Jingjia Liang, Wenxiang Li, Aihua Gu   +11 more
doaj   +1 more source

Automated surgical planning in spring-assisted sagittal craniosynostosis correction using finite element analysis and machine learning.

PLoS ONE, 2023
Sagittal synostosis is a condition caused by the fused sagittal suture and results in a narrowed skull in infants. Spring-assisted cranioplasty is a correction technique used to expand skulls with sagittal craniosynostosis by placing compressed springs ...
Jenson Jacob, Selim Bozkurt
doaj   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

The management of perioperative pain in craniosynostosis repair: a systematic literature review of the current practices and guidelines for the future

Maxillofacial Plastic and Reconstructive Surgery, 2022
Background Craniosynostosis is a condition characterized by a premature fusion of one or more cranial sutures. The surgical repair of craniosynostosis causes significant pain for the child.
Hatan Mortada, Raghad AlKhashan, Nawaf Alhindi, Haifa B. AlWaily, Ghada A. Alsadhan, Saad Alrobaiea, Khalid Arab   +6 more
doaj   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, EarlyView.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source

Interstitial 11q Deletions and Terminal 11q Duplications Cause a Bleeding Tendency due to Platelet Dysfunction That Is Similar to 11q Deletions Causing Jacobsen Syndrome

European Journal of Haematology, EarlyView.
ABSTRACT Introduction Jacobsen syndrome, resulting from a terminal deletion of chromosome 11 (11q), may lead to an increased bleeding tendency due to low platelet counts or platelet dysfunction. Currently, information on bleeding tendency and platelet function in patients with nonterminal 11q‐aberrations such as larger deletions, interstitial 11q ...
Elise J. Huisman, Virgil A. S. H. Dalm, Marieke Joosten, Frans J. Smiers, Leendert Porcelijn, Arjan Hoogendijk, Hans Janssen, Nicole N. van der van der Wel, Idske C. L. Kremer Hovinga, Masja de Haas, Marjon H. Cnossen   +10 more
wiley   +1 more source

Multidisciplinary care of craniosynostosis

Journal of Multidisciplinary Healthcare, 2017
Edward P Buchanan,1 Yunfeng Xue,1 Amy S Xue,1 Asaf Olshinka,1 Sandi Lam2 1Michael E. DeBakey Department of Surgery, Division of Plastic Surgery, 2Michael E. DeBakey Department of Surgery, Division of Neurosurgery, Baylor College of Medicine, Houston, TX,
Buchanan EP, Xue Y, Xue AS, Olshinka A, Lam S   +4 more
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