Results 31 to 40 of about 6,224 (261)

Cleft lip, alveolus and palate: Defect or dislocation malformation? Importance of adopting a physiological concept for surgical repair in achieving optimal outcomes in LMICs. Part 1: Physiological processes in facial development

Journal of Oral Biology and Craniofacial Research, 2022
The conventional surgical procedures for the closure of cleft-lip and palate are based on proven plastic-surgical procedures from tumour surgery or traumatology.
Ulrich Joos
doaj   +1 more source

Case report: A complicated course of Collet-Sicard syndrome after internal carotid artery dissection and lenticulo-striatal artery infarction

Frontiers in Neurology, 2022
A 40-year-old Caucasian man presented with sudden onset of left-sided hemiparesis associated with dysphonia, dysphagia, and right-sided weakness on shoulder elevation and head rotation.
Dennis A. Nowak, Dennis A. Nowak, Rainer Linden, Peggy Arnold, Veronika Seitz, Katrin Stangl, Christina Wendl, Felix Schlachetzki   +7 more
doaj   +1 more source

A Comprehensive Study of Soft Palate Development in Mice.

PLoS ONE, 2015
Cleft palate is one of the most common congenital birth defects. Tremendous efforts have been made over the last decades towards understanding hard palate development. However, little is known about soft palate morphogenesis and myogenesis.
Alexandre Grimaldi, Carolina Parada, Yang Chai   +2 more
doaj   +1 more source

Effectiveness of Combining Behavioral Treatment With Valproic Acid for Dysphagia Caused by Palatal Myoclonus in Patients With Stroke: Two Case Reports [PDF]

Annals of Rehabilitation Medicine, 2018
Palatal myoclonus (PM) is a rare disease that may induce dysphagia. Since dysphagia related to PM is unique and is characterized by myoclonic movements of the involved muscles, specific treatments are needed for rehabilitation.
Bo-Ram Kim, Yejin Lee, Soo Jin Kim, Hyuntae Kim, Jong Won Lee, Seunghwan Lee, Jongmin Lee   +6 more
doaj   +1 more source

Effects of Rapid Palatal Expansion on Chewing Biomechanics in Children with Malocclusion: A Surface Electromyography Study

Sensors, 2020
Malocclusion during childhood may affect both morphology and masticatory function and could greatly affect the subsequent growth and development of the jaws and face. The purpose of this study was to evaluate the efficiency of surface electromyography in
Fabiola Spolaor, Martina Mason, Alberto De Stefani, Giovanni Bruno, Ottavia Surace, Annamaria Guiotto, Antonio Gracco, Zimi Sawacha   +7 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Osteological correlates of evolutionary transitions in cetacean feeding and related oropharyngeal functions

Frontiers in Ecology and Evolution, 2023
Teeth are often the first structures that anatomists and paleontologists examine to understand the ecology and morphology of feeding, both because teeth are highly specialized structures that provide precise information, and because they are among the ...
Alexander J. Werth, Brian L. Beatty
doaj   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source