Results 81 to 90 of about 102,110 (313)

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Intraoral Pressure Differences Between Patients with Dysphagia and Healthy Individuals: A Pilot Study Using a Novel Intraoral Pressure Sensor

Oral
Background: Intraoral pressure contributes significantly to bolus transport during swallowing, along with tongue and pharyngeal pressures. However, conventional assessment methods (e.g., manometry, tongue pressure measurement) have limitations, including
Saki Mizutani, Sachie Nakao, Rikako Sato, Akira Tada, Kota Amano, Mana Oshio, Atsuko Otsuka, Yoko Iwase, Hiroshige Taniguchi   +8 more
doaj   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Present state and perceived future use of teledentistry in long-term care facilities in Japan: A cross-sectional study

Digital Health
Objectives Teledentistry could be effective in managing oral health through the provision of oral hygiene instruction and diagnostic services. This study aimed to assess the perception and usefulness of teledentistry in Japanese long-term care facilities.
Takuma Okumura, Kazuharu Nakagawa, Kanako Yoshimi, Mitsuko Saito, Kayoko Ito, Masataka Itoda, Kenji Takeuchi, Shinsuke Mizutani, Mitsuyoshi Yoshida, Yutaka Watanabe, Haruka Tohara   +10 more
doaj   +1 more source

Caregivers’ Knowledge and Experiences in Recognizing and Managing Dysphagia in Patients with Myopathy

Clinics and Practice
Background: Dysphagia is a common complication in myopathy, significantly impacting patients’ quality of life (QoL) and overall health. Caregivers play a critical role in identifying and addressing swallowing difficulties in this population.
Maria Demetriou, Demetra Tziirkalli, Anastasios M. Georgiou   +2 more
doaj   +1 more source

A pragmatic, multi-centered, stepped wedge, cluster randomized controlled trial pilot of the clinical and cost effectiveness of a complex Stroke Oral healthCare intervention pLan Evaluation II (SOCLE II) compared with usual oral healthcare in stroke wards [PDF]

, 2019
BACKGROUND: Patients with stroke-associated pneumonia experience poorer outcomes (increased hospital stays, costs, discharge dependency, and risk of death).
Bain, Brenda Jean, Barr, John, Bowers, Naomi, Brady, Marian C., Chalmers, Campbell, Colins, Marissa, Gray, Heather, Keerie, Catriona, Langhorne, Peter, Pollock, Alex, Stott, David J., Sweeney, Petrina, Weir, Christopher J.   +12 more
core   +2 more sources

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Dysphagia lusoria

Journal of Vascular Surgery, 2007
Journal of Vascular Surgery 46 (2007) 581-581.
Department of Surgery, Division of Vascular Surgery and Endovascular Therapy, University of Florida College of Medicine, Gainesville, Fla. ( host institution ), Feezor, Robert J., Lee, W. Anthony   +2 more
openaire   +5 more sources

Healthcare-related cost of oropharyngeal dysphagia and its complications pneumonia and malnutrition after stroke: a systematic review [PDF]

, 2020
Sergio Marín, Mateu Serra‐Prat, Omar Ortega, Père Clavé   +3 more
openalex   +1 more source

Siceropenic dysphagia.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 2000
No Abstract.
Bothwell, T.H., Thomas, R. Glyn
openaire   +2 more sources