Results 201 to 210 of about 9,154 (298)

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

A Comprehensive Review of the Genetic Etiology and Management of Orofacial Clefts

Pediatric Discovery, EarlyView.
ABSTRACT Cleft lip (CL) and cleft palate (CP), collectively referred to as orofacial clefts (OFCs), are among the most common birth defects and can have significant effects on speech, nutrition, and physical and psychosocial development. Manifestation, classification, and treatment plans of OFCs are diverse and not standardized.
Emily Kim, Rebeka Dejenie, Caroline Kim, Russell Reid   +3 more
wiley   +1 more source

Establishing a preliminary normative database of oral efficiency for children: the Test of Masticating and Swallowing Solids Application (ToMaSSApp). [PDF]

Eur J Pediatr
Willocks AG, Bykova KM, Moltchanova E.
europepmc   +1 more source

Evidence‐based guideline for clinical practice in the diagnosis, treatment, management, and prevention of recurrent wheezing in infants and toddlers in China

Pediatric Investigation, EarlyView.
ABSTRACT Wheezing is a common respiratory symptom in infants and toddlers, and recurrent wheezing is a significant respiratory disorder affecting this age group. Given the multifactorial etiology of recurrent wheezing, clinical practice lacks standardized diagnostic and therapeutic protocols. Recent years have witnessed substantial progress in clinical
Committee of Pediatrics, China Medical Education Association, Cooperative Group of Asthma, the Subspecialty Group of Respiratory, the Society of Pediatrics, Chinese Medical Association, Pediatric Respiratory Work Committee, Society of Pulmonologists, Chinese Medical Doctor Association, Committee of Pediatrics, Chinese Research Hospital Association, Pediatric Professional Committee of the Chinese Non‐public Medical Institutions Association, Professional Committee of Children's Health and Pharmaceutical Research, China Association of Traditional Chinese Medicine, Children's Safe Medication Branch of China News of Drug Information Association, Pediatric Expert Committee of China Primary Health Care Foundation, China International Medical Foundation   +16 more
wiley   +1 more source

Influence of oromotor functions on motor development and feeding outcomes in children with cerebral palsy. [PDF]

Ann Med
Ibrahim AF, Elsebahy SY, Aldhahi MI, Khalaf MM, Torad AA, Mohamed Taha M, El-Sheikh AF.   +6 more
europepmc   +1 more source

The characterization of dysphagia in COVID‐19 rehabilitation patients: An inpatient rehabilitation cohort study

PM&R, EarlyView.
Abstract Background Severe COVID‐19 infection requiring hospitalization is associated with oropharyngeal dysphagia, yet trajectories in the inpatient rehabilitation facility (IRF) setting remain undercharacterized. Objective To investigate the prevalence, risk factors, recovery likelihood, and evolution of dietary requirements of patients with ...
Benjamin K. Petrie, Christopher W. Lewis, Sean Dreyer, Prakash Jayabalan   +3 more
wiley   +1 more source

Characteristics of Swallowing Function in People with Parkinson's Disease: A Scoping Review. [PDF]

Mov Disord
Erfmann K, Hirschwald J, Hofacker J, Winiker K, Klann J, Dziewas R, Warnecke T.   +6 more
europepmc   +1 more source

Epiglottis Collapse in Individuals With Obstructive Sleep Apnea

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objective Obstructive sleep apnea (OSA) is a common sleep disorder characterized by repeated upper airway collapse during sleep. The epiglottis, often overlooked in conventional assessments, has emerged as a site of significant obstruction in OSA.
Dan Chen, Li Zhou, Qi‐Ying Zeng, Yu‐Yin Liu, Jia‐Jing Yang, Rui Liu, Zhi‐Hang Zhou, Fei‐Fei Chen, Li Tang, Fang‐Qi Liang, Hong‐Liang Yi, Su‐Ru Liu   +11 more
wiley   +1 more source

Digital health technologies in swallowing care from screening to rehabilitation: A narrative review. [PDF]

Auris Nasus Larynx
Alter IL, Dias C, Briano J, Rameau A.
europepmc   +1 more source