Results 111 to 120 of about 59,130 (275)

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

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Central Nervous System Abnormalities

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives This study demonstrates the central nervous system (CNS) abnormalities detected using fetal post‐mortem micro‐focus computed tomography (Micro‐CT), independent of whether the abnormality contributed to the main diagnosis or cause of death.
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Early academic achievement in children with isolated clefts: a population-based study in England [PDF]

, 2018
OBJECTIVES: We used national data to study differences in academic achievement between 5-year-old children with an isolated oral cleft and the general population. We also assessed differences by cleft type.
Charman, SC, Copley, LP, Deacon, SA, Dearden, L, Fitzsimons, KJ, Setakis, E, van der Meulen, JH   +6 more
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Dysphagia in Children With Autism Spectrum Disorder: A Scoping Review

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objective There are four phases of swallowing: oral preparatory, oral transit, oropharyngeal, and esophageal. Disruption of any phase(s) can lead to dysphagia. Autism spectrum disorder (ASD) children have a high rate of dysphagia compared with neurotypical peers.
Chase Hintelmann, Sharwani Kota, Pamela Hargwood, Lilun Li   +3 more
wiley   +1 more source

Axial length, myopia progression, and myopic maculopathy in Stickler syndrome

Acta Ophthalmologica, EarlyView.
Abstract Purpose We lack knowledge on the potentially progressive nature of and the prevalence of complications to myopia as a characteristic trait of Stickler syndrome. Methods This cross‐sectional study combines ophthalmic examination and medical record data on Danish patients with genetically confirmed Stickler syndrome type 1 (COL2A1) and type 2 ...
Kirstine B. Boysen, Mette Bertelsen, Nanna D. Rendtorff, Stense Farholt, Line Kessel   +4 more
wiley   +1 more source

Automatic Landmark Detection in Severe Craniomaxillofacial Deformities via Three-Dimensional (3D) Point Cloud Deformation Model and Deep Learning Networks

IEEE Access
The accurate and efficient detection of landmarks is crucial for diagnosing and treating CMF deformities, which often involve various structural abnormalities in bone structure displacement, defects, and facial asymmetry.
Meng Xu, Zhaoyang Luo, Bingyang Liu, Zhiyan Wang, Xiaojun Tang, Tao Song   +5 more
doaj   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

The effectiveness of implementation intentions in children: A systematic review and meta‐analysis

British Journal of Psychology, EarlyView.
Abstract Self‐regulation abilities in childhood are important for long‐term academic achievement and healthy development. As self‐regulatory abilities are still developing, ‘simple’ interventions are needed to foster self‐regulation. Implementation intentions are simple plans that could promote goal achievement in children.
Jasmin Breitwieser, Tilman Reinelt
wiley   +1 more source

Epidemiological pattern of cleft lip and palate under Rashtriya Bal Swasthya Karyakram project in the state of Bihar: A cross-sectional hospital-based study

Journal of Family Medicine and Primary Care
Purpose: There is a paucity of literature on the incidence and distribution of cleft lip and palate cases in the population of Bihar leading to an unmeasured gap in the status of cleft patients in this part of the country.
Shria Datta, Veena Kumari Singh
doaj   +1 more source

Psychomotor Development of 18-Months Children With Orofacial Clefts [PDF]

, 2014
Objective - To describe the global and language development of children with cleft palate or cleft lip and palate at the age of 18 months, and to evaluate whether the type of cleft has an impact on psychomotor development.
CHOQUARD, M.
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