Results 51 to 60 of about 100,064 (264)

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

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

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

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 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

Siceropenic dysphagia.

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

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

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

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

Impact of Evolving Treatment Patterns on Interstitial Lung Disease Progression in Systemic Sclerosis Using the European Scleroderma Trials and Research Database

Arthritis &Rheumatology, EarlyView.
Objective The treatment landscape for systemic sclerosis‐associated interstitial lung disease (SSc‐ILD) has evolved with increasingly available immunosuppressive therapies (ISTs) and antifibrotic treatments. However, their real‐world use remains unclear.
Corrado Campochiaro, Marie‐Elise Truchetet, Madelon Vonk, Giacomo De Luca, Giovanna Cuomo, Lidia P. Ananieva, Eric Hachulla, Vanessa Smith, Ana Maria Gheorghiu, Radim Becvar, Patricia Carreira, Nicolas Hunzelmann, Daniel E. Furst, Vera Ortiz‐Santamaria, Francesco Del Galdo, Marco Matucci‐Cerinic, Anna‐Maria Hoffmann‐Vold, EUSTAR collaborators   +17 more
wiley   +1 more source