Results 51 to 60 of about 50,678 (282)

Validated predictive equations based on tibial length in estimating height for children with cerebral palsy for 2–18 years, across all GMFCS levels

Journal of Nutritional Science, 2021
Children with cerebral palsy (CP) typically suffer from congenital deformities, such as scoliosis and contractures, therefore, it is a challenge to measure the stature of CP children. Studies have suggested that predictive equations based on tibia length
Mahnon Suria Mokhy, Rosita Jamaluddin, Abd Rasyid Ismail, Norhasmah Sulaiman, Siti Nur ‘Asyura Adznam, Intan Hakimah Ismail, Malina Osman   +6 more
doaj   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Total femur arthroplasty for revision hip failure in osteogenesis imperfecta: limits of biology

Arthroplasty Today, 2017
Osteogenesis imperfecta (OI) is a rare congenital disease characterized by alterations in bone quality, with susceptibility to fractures, instability, deformities, and osteoarthrosis.
Pablo Sanz-Ruiz, PhD, MD, Manuel Villanueva-Martinez, PhD, MD, Jose Antonio Calvo-Haro, PhD, MD, Esther Carbó-Laso, PhD, MD, Javier Vaquero-Martín, PhD, MD   +4 more
doaj   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Review of Plastic and Reconstructive Surgery in a General Hospital Setting: Experience from a Developing Country

Sudan Journal of Medical Sciences, 2023
Background: Plastic and reconstructive surgery in developing countries and underserved areas are significantly limited and face changes to start a proper service.
Mohammed Yousof Bakhiet, Elbadwai Hassan-Mohamed HabibAlla, Sami Mahmoud Assil, Mohamed Daffalla Awadalla Gismalla   +3 more
doaj   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Contemporary Management of the Upper Limb in Apert Syndrome: A Review

Plastic and Reconstructive Surgery, Global Open
Background:. Apert syndrome is a relatively rare genetic disorder with a constellation of distinct craniofacial deformities and bilateral syndactyly of the hands and feet.
Nathan Khabyeh-Hasbani, BA, Yi-Hseuh Lu, MD, PhD, William Baumgartner, MD, Shaun D. Mendenhall, MD, Steven M. Koehler, MD   +4 more
doaj   +1 more source

Hand Function in Apert Syndrome

Plastic and Reconstructive Surgery, Global Open, 2019
Background:. The Michigan Hand Questionnaire is widely used to assess hand outcomes in congenital hand deformities. The purpose of the present study is to compare Apert syndrome hand outcomes according to Upton hand type and age stratification with age ...
Cassio Eduardo Raposo-Amaral, MD, PhD, Rafael Denadai, MD, Thais Miguel do Monte Lameiro, MD, Yuri Moresco de Oliveira, MD, Cesar Augusto Raposo-Amaral, MD   +4 more
doaj   +1 more source

Statistical shape modeling of the human inner ear through micro‐computed tomography imaging

The Anatomical Record, EarlyView.
In this study, 54 cadaveric temporal bone specimens underwent high‐resolution micro‐CT imaging. Images were semi‐automatically segmented and converted to 3D surface mesh models for morphological measurement and analysis. Statistical shape models were created for the inner ear, cochlea, and vestibular system, as well as for sex‐ and side‐based subgroups.
Carmine Spedaliere, Alexandra Vaupotic, Jaehyun Hwang, Khalil Husein, Mustafa Hafidh, Kyle Rioux, S. Alireza Rohani, Sumit K. Agrawal, Hanif M. Ladak   +8 more
wiley   +1 more source