Results 41 to 50 of about 102,865 (267)

Risk factors and long‐term postoperative outcomes in patients with postoperative dysphagia after esophagectomy for esophageal cancer

open access: yesAnnals of Gastroenterological Surgery, 2022
Aim Dysphagia is one of the most common complications after esophagectomy. However, no study has investigated the long‐term postoperative outcomes in patients with postoperative dysphagia.
Takahito Sugase   +9 more
doaj   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland   +4 more
wiley   +1 more source

Physical, oral, and swallowing functions of three patients with type A xeroderma pigmentosum: a report of three cases

open access: yesBMC Oral Health
Background Xeroderma pigmentosum (XP) is an extremely rare and severe form of photosensitivity. It is classified into types A–G or V according to the gene responsible for the disease.
Atsuko Tamura   +4 more
doaj   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim   +12 more
wiley   +1 more source

Effects of interferential current transcutaneous electrical sensory stimulation in patients with severe dementia and dysphagia in long-term care facilities

open access: yesBMC Geriatrics
Background The aim of the study was to ascertain the efficacy of interferential current-transcutaneous electrical sensory stimulation (IFC-TESS) in treating patients with severe dementia accompanied by dysphagia who reside in long-term care facilities ...
Yoshiko Hara   +6 more
doaj   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf   +7 more
wiley   +1 more source

Eighty-year-old man with 10 years dysphagia

open access: yesJournal of Digestive Endoscopy, 2015
Dysphagia is a sensation of food being "stuck" up in its passage from the mouth to stomach. It is of two main types, oropharyngeal dysphagia, and esophageal dysphagia.
Showkat A. Kadla   +6 more
doaj   +1 more source

Dysphagia Lusoria: A Rare Case of Dysphagia

open access: yesCureus
Dysphagia is a condition whose prevalence increases with age and can have multiple causes. The differential diagnosis of dysphagia is crucial for its management and therapeutic guidance. The existence of an aberrant right subclavian artery can be a cause of dysphagia in adults.
Franco, Ana   +2 more
openaire   +2 more sources

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan   +13 more
wiley   +1 more source

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

open access: yesOral
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   +8 more
doaj   +1 more source

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