Results 51 to 60 of about 125,324 (315)

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Dysphagia in Gastrointestinal Cancer Patients [PDF]

, 2017
Dysphagia is one of the common symptoms that are encountered in clinical practice. However, dysphagia is still crucial and must be thoroughly investigated because it may be a key symptom of several malignancies.
허철웅, 윤영훈
core  

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

BMC 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, Kohei Yamaguchi, Ryosuke Yanagida, Rie Miyata, Haruka Tohara   +4 more
doaj   +1 more source

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

American 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, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Early Feasibility of an Activity-Based Intervention for Improving Ingestive Functions in Older Adults with Oropharyngeal Dysphagia

, 2023
There is growing awareness about the use of combined strength- and skill-based swallowing training for improving swallowing physiology in the event of dysphagia.
Louise Bolvig Laursen, Maria Swennergren Hansen, Tina Hansen   +2 more
core   +1 more source

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

BMC 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, Ayako Nakane, Yu Yoshizumi, Kazuharu Nakagawa, Kohei Yamaguchi, Kanako Yoshimi, Haruka Tohara   +6 more
doaj   +1 more source

Eighty-year-old man with 10 years dysphagia

Journal 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, Nisar Ahmad Shah, Shaheena Parveen, Bilal A. Khan, Asif I. Shah, Shaheen Nazir Lone, Sandeep Sharma   +6 more
doaj   +1 more source

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

American 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, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Establishment of a chronic aspiration pneumonia mouse model using oropharyngeal aspiration of food suspension

Animal Models and Experimental Medicine, EarlyView.
Four aspiration methods (UV, IN, IT, and OA) were compared, and OA was identified as the most effective delivery technique. A chronic aspiration pneumonia model was then established through repeated OA of food suspension or gastric contents. Integrated analyses, including micro‐CT, histopathology, cytokine profiling, and RNA sequencing, revealed ...
Qianwen Li, Fansen Lin, Hongzhi Gao, Yun Zhao, Yuqi Liu   +4 more
wiley   +1 more source