Results 171 to 180 of about 58,838 (349)

Deep Brain Stimulation in Children and Adolescents with ε‐Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life

Movement Disorders, EarlyView.
Abstract Background Deep brain stimulation of the globus pallidus internus (DBS‐GPi) has shown efficacy in adult patients with SGCE‐related myoclonus dystonia. However, evidence regarding its impact in pediatric populations is limited. Objectives The aim was to evaluate motor and non‐motor outcomes following DBS‐GPi intervention in children and ...
Ainara Salazar‐Villacorta, Ana Cazurro‐Gutiérrez, Lucy Dougherty‐de Miguel, Julia Ferrero‐Turrión, Anna Marcé‐Grau, Marta Folch‐Benito, Álvaro Lucero‐Garófano, Alfons Macaya, Antonio Moreno‐Galdó, Maria I. Vanegas, Marta Correa‐Vela, María Victoria González, Gemma Español‐Martín, Martha Loredo, Ignacio Delgado, Esther Toro‐Tamargo, Margarita Figueroa, Dolores Vilas, Manel Tardáguila, Jorge Muñoz, Lourdes Ispierto, Ramiro Álvarez, Agustí Bescós, Belén Pérez‐Dueñas   +23 more
wiley   +1 more source

“It's just us”: Families' experiences with temporary tube feeding

Nutrition in Clinical Practice, EarlyView.
Abstract Background Children with temporary feeding tubes are discharged home with increasing frequency, yet little is known about how families adapt and manage in their home environment. Whereas the physical side effects of temporary feeding tubes are well documented, the psychosocial impact on families remains underresearched. Understanding families'
Claire Reilly, Jeanne Marshall, Jasmine Foley, Nikhil Thapar, Rebecca Packer   +4 more
wiley   +1 more source

Use of the i‐PARIHS framework in nutrition and dietetics research and practice: A citation analysis of the literature and case studies

Nutrition in Clinical Practice, EarlyView.
Abstract Theoretical approaches can help to plan, guide, and evaluate implementation projects that target real‐world practice problems. This paper provides an overview of the integrated Promoting Action on Research Implementation in Health Services (i‐PARIHS) framework and summarizes its use in nutrition and dietetics research and practice. A narrative
Adrienne M. Young, Angela Byrnes, Prue McRae, Alison Mudge   +3 more
wiley   +1 more source

Comparing the Audiological Success of Bone Cement to Standard Ossiculoplasty Techniques: A Systematic Review and Meta‐analysis

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To compare the audiological success and longevity of bone cement to standard ossiculoplasty techniques. Data Sources PubMed, Embase, Cochrane Library, Medline, and the Web of Science were systematically searched for studies from the date of inception to November 8, 2024.
Natasha Dowell, Shayma Begum, Christopher Coulson, Hannah Nieto, Jameel Muzaffar   +4 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Dietary Inflammatory Index and Nutritional Status in Children with Inborn Errors of Metabolism on Protein-Restricted Diets. [PDF]

Nutrients
Aktaş E, Çiçek B, Okur I, İnci A, Tümer L.   +4 more
europepmc   +1 more source

A 15‐year population‐based study on incidence and vaccination coverage in pediatric inflammatory bowel disease in Italy

Pediatric Investigation, EarlyView.
Increasing incidence of pediatric inflammatory bowel disease (IBD) and suboptimal vaccination coverage in Apulia, Italy (2009–2023). A total of 1044 incident cases of paediatric IBD were identified in the period 2009–2023 in Apulia, Italy, giving an average annual standardized incidence rate of 12.7/100 000. A significant increase in incidence occurred
Francesca Fortunato, Angelo Campanozzi, Michele Di Toma, Alessandra Marinari, Domenico Martinelli   +4 more
wiley   +1 more source

Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency management. [PDF]

Orphanet J Rare Dis
Harings T, Bertsche T, Thiele AG, Kiess W, Bertsche A, Beblo S, Neininger MP.   +6 more
europepmc   +1 more source

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

Molecular Genetics and Metabolism, 2020
Mohamed A Elmonem, A. Bélanger-Quintana, A. Bordugo, R. Boruah, E. Cortés-Saladelafont, Mounika Endrakanti, P. Giraldo, S. Grünert, Neerja Gupta, M. Kabra, I. Knerr, J. Krämer, A. Kuster, E. Levtchenko, L. Ngu, M. Rovira-Remisa, J. Sass, J. Sykut-Cegielska, Albina Tummolo, L. P. Van den Heuvel   +19 more
semanticscholar   +1 more source