Results 201 to 210 of about 5,455,171 (343)

Current Nationwide Landscape of Cardiac Surgery for Children With Trisomy 18 in Japan

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Despite the increasing number of retrospective cohorts describing successful cardiac surgery for children with trisomy 18, no consensus has been reached among healthcare providers regarding cardiac surgery in Japan. This study provided a benchmark to facilitate consensus building by assessing a nationwide surgical database in Japan. A total of
Shintaro Nemoto, Hisateru Tachimori, Tomoki Kosho, Kanta Kishi, Noboru Motomura, Yasutaka Hirata   +5 more
wiley   +1 more source

Effectiveness of voice therapy after recovery from COVID-19 infection: A Rare Case Report

, 2023
Aghadoost S, Molazeinal Y, Khoddami SM, Aghajanzadeh M.   +3 more
europepmc   +1 more source

Interactive Voice Response-Call for Life Mhealth Tool Effect Versus Usual Care on Adherence to Anti-Retroviral Therapy Among Young People Living with HIV: A Randomized Trial in Uganda

, 2023
Agnes Bwanika Naggirinya, David B. Meya, Agnes Kiragga, Joseph Rujumba, Peter Waiswa, Rosalind Parkes‐Ratanshi   +5 more
openalex   +1 more source

A Collaborative Approach to Pediatric Genetic Evaluation in the Era of Genomic Medicine

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To address the increased demand for genetic services and shortage of medical geneticists (MG), a collaborative pilot program was developed with a two‐part approach to care: (1) Initial genetic counselor (GC) appointment with exome sequencing (ES) and (2) follow‐up MG evaluation.
Sarah Jurgensmeyer Langas, Allison Goetsch Weisman, Valerie Allegretti, Katherine Kim, Roxanne Birriel, Carlos E. Prada   +5 more
wiley   +1 more source

Assessing the Effectiveness of Voice Therapy Techniques in Treating Dysphonia: An Otolaryngological Review. [PDF]

Cureus
Al-Hussain OH.
europepmc   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

Floating Ball Voice Therapy: Preliminary Effects on Outcomes and Predicting Individual Patient Differences in Generalization. [PDF]

J Speech Lang Hear Res
Van Stan JH, Hillman RE, Krusemark C, Muise J, Stadelman-Cohen T, Mehta DD, Sternad D.   +6 more
europepmc   +1 more source

Letter to the Editor: Voice Therapy in the Context of the COVID-19 Pandemic: Guidelines for Clinical Practice. [PDF]

J Voice, 2023
Wiwanitkit V.
europepmc   +1 more source

An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source