Results 71 to 80 of about 2,781,607 (301)

Congenital Limb Deformities in a Neonatal Crossbred Pig

, 2022
PURPOSE: To describe the pathology and imaging findings in two neonatal piglets with congenital limb deformities. METHODS: The litter from a second parity crossbred sow presented with four mummified fetuses, three stillborn piglets, and two live piglets ...
Michael C. Rahe, Rahe, Michael C., Holmes, Neil B., Evrard, Laurence, Neil B. Holmes, Laurence Evrard   +5 more
core   +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

Safety and Efficacy of Growing Rod Technique for Pediatric Congenital Spinal Deformities

, 2011
Background: Growing rod surgery is a modern alternative treatment for young children with early onset scoliosis.
George H. Thompson, Emans, John B., David L. Skaggs, Elsebai, Hazeem B., Thompson, George H., Kostial, Patricia, Lawrence I. Karlin, Patricia Kostial, Crawford, Alvin H., John B. Emans, Skaggs, David L., Connie Poe-Kochert, Poe-Kochert, Connie, Hazeem B. Elsebai, Behrooz A. Akbarnia, Richard E. McCarthy, Alvin H. Crawford, Akbarnia, Behrooz A., Muharrem Yazici, YAZICI, MUHARREM, Karlin, Lawrence I., McCarthy, Richard E.   +21 more
core   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Other Thumb Deformities

The thumb accounts for approximately 40% of overall hand function, and deformities carry significant implications for pediatric hand development and quality of life. This article reviews three distinct congenital and acquired thumb deformities: pediatric
William C. Pederson, Diego M. Quirarte, Jenny Lee Nguyen, Matthew J. Parham, Lance He   +4 more
core   +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

Population pharmacokinetics of levetiracetam in term neonates with hypoxic–ischemic encephalopathy and therapeutic hypothermia: The LEVNEONAT‐1 study

British Journal of Clinical Pharmacology, EarlyView.
Aim This study aimed to describe the pharmacokinetics (PK) of levetiracetam (LEV) in term neonates treated for neonatal seizures secondary to hypoxic–ischemic encephalopathy (HIE). Methods Fifteen neonates were included and received a loading dose ranging from 30 to 60 mg/kg followed by eight maintenance doses corresponding to one‐fourth of the loading
Léo Mimram, Moreno Ursino, Julie Leger, Emilie Bourrel‐Ponchel, Florence Flamein, Alexandra Chadie, Isabelle Guellec, Sarah Zohar, Vincent Jullien, Géraldine Favrais   +9 more
wiley   +1 more source

Syndactyly [PDF]

, 2020
Here we present an interesting case of simple syndactyly and provide a narrative review of its incidence, associations and management.
Knowles, Billie Georgina, Nikkhah, Dariush, Geoghegan, Luke   +2 more
core  

Chiari I Malformation: Review and Update of Current Treatment Options

Clinical Anatomy, EarlyView.
ABSTRACT The pathophysiology of Chiari malformation type I (CM‐I) is complex, involving structural abnormalities at the craniovertebral junction that result in herniation of the cerebellar tonsils through the foramen magnum. In this study, we aim to present and evaluate current treatment options for CM‐I, with a focus on evidence‐based clinical ...
Jordan J. Lo, Shuhei Shiino, Stephen Z. Shapiro, Brianna L. Hines, Noritaka Komune, Carmine Antonio Donofrio, Filippo Badaloni, Antonio Fioravanti, Joseph Lockwood, C. J. Bui, Aaron S. Dumont, R. Shane Tubbs   +11 more
wiley   +1 more source

Vocational and Educational Outcomes in Adults With Sturge–Weber Syndrome: Preliminary Results From a Clinical Needs Assessment

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective The clinical presentation of Sturge–Weber syndrome (SWS) is highly variable, with seizures during infancy and co‑occurring neurodevelopmental conditions commonly reported. Although these features are known to affect childhood functioning, their relationship to adult vocational and educational outcomes remains poorly understood.
Katharine E. Joslyn, Catherine Stephan, Anne M. Comi, Andrew T. Zabel   +3 more
wiley   +1 more source