Results 81 to 90 of about 6,717,974 (341)

The NeST (Nephrotic Syndrome Trust) App, a novel, co-designed self-management support app for young people and young adults with Nephrotic Syndrome: a multi-method survey reporting initial app development and evaluation

BMC Nephrology
Background There is a need for a user-led, evidence-based digital application (app.) that meets the identified information and support needs and preferences of young people and young adults aged 12–35 years (YP/YA) with Nephrotic Syndrome (NS) in the ...
Moin A. Saleem, Wendy Cook, David Cook, Reihaneh Damghani, Maryam Afzal, Retha Steenkamp, Steve Donovan, Veronica Swallow   +7 more
doaj   +1 more source

Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects

Diagnostics, 2020
Inherited retinal diseases (IRDs), which are among the most common genetic diseases in humans, define a clinically and genetically heterogeneous group of disorders. Over 80 forms of syndromic IRDs have been described.
Yasmin Tatour, Tamar Ben-Yosef
doaj   +1 more source

Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies [PDF]

, 2019
Objective: Tourette’s syndrome is polygenic and highly heritable. Genome-wide association study (GWAS) approaches are useful for interrogating the genetic architecture and determinants of Tourette’s syndrome and other tic disorders. The authors conducted
Gilles de la Tourette GWAS Replication Initiative, Psychiatric Genomics Consortium Tourette Syndrome Working Group, Tourette Association of America International Consortium for Genetics, Tourette International Collaborative Genetics Study, Woods, Douglas W.   +4 more
core   +1 more source

Treatment of Electrical Storm with Amiodarone in Brugada Syndrome- an Unexpected Protective Effect [PDF]

, 2013
We are reporting on a 53 year old man with proven Brugada syndrome and ICD implantation for resuscitation in context of polymorphic VT. After recurrent arrhythmia he was treated with Amiodarone.
Lambiase, PD, Novak, J
core   +1 more source

Marfan syndrome

Journal of Pharmacy And Bioallied Sciences, 2017
Marfan syndrome (MFS) is the autosomal dominant-inherited multisystem connective-tissue disorder, with a reported incidence of 1 in 10,000 individuals and equal distribution in both genders. The main clinical manifestation of this disorder consists of an exaggerated length of the upper and lower limbs, hyperlaxity, scoliosis, alterations in the ...
T Sivasankari, Philips Mathew, Ravi David Austin, Sakthi Devi   +3 more
openaire   +3 more sources

What to Do When Medical Evidence Can Only Be Generated Through Routine Data: An Example From Pediatric Oncology

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Children undergoing allogeneic stem cell transplantation often receive off‐label rituximab treatment for Epstein–Barr virus reactivation, using adult dosing without pediatric evidence. This project aims to develop a clinical decision support tool (CDSS) that provides evidence‐based dosing scenarios by analyzing real‐world patient data.
Birgit Burkhardt, Antje Walz, Dietrich Knoerzer   +2 more
wiley   +1 more source

An integrated multi-omic natural history study of human development, sexual dimorphism, and the effects of trisomy 21

Nature Communications
Human development involves multiple signaling pathways acting concertedly in an age- and sex-specific fashion. Trisomy 21, the genetic cause of Down syndrome, dysregulates human development leading to both early neurodevelopmental delays and atypical ...
Neetha Paul Eduthan, Micah G. Donovan, Paula Araya, Angela L. Rachubinski, Kelly D. Sullivan, Matthew D. Galbraith, Joaquin M. Espinosa   +6 more
doaj   +1 more source

Autoimmunity and SLE: Factual and Semantic Evidence-Based Critical Analyses of Definitions, Etiology, and Pathogenesis

Frontiers in Immunology, 2020
One cannot discuss anti-dsDNA antibodies and lupus nephritis without discussing the nature of Systemic lupus erythematosus (SLE). SLE is insistently described as a prototype autoimmune syndrome, with anti-dsDNA antibodies as a central biomarker and a ...
Ole Petter Rekvig, Ole Petter Rekvig
doaj   +1 more source

Changes in Body Composition in Children and Young People Undergoing Treatment for Acute Lymphoblastic Leukemia: A Systematic Review and Meta‐Analysis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Ongoing evidence indicates increased risk of sarcopenic obesity among children and young people (CYP) with acute lymphoblastic leukemia (ALL), often beginning early in treatment, persisting into survivorship. This review evaluates current literature on body composition in CYP with ALL during and after treatment.
Lina A. Zahed, Raquel Revuelta Iniesta, Mary Fewtrell, Julie Lanigan, Breeana Gardiner, Graeme O'Connor   +5 more
wiley   +1 more source

The economic impact of caregiving for individuals with Angelman syndrome in the United States: results from a caregiver survey

Orphanet Journal of Rare Diseases
Background Angelman syndrome (AS) is a rare neurogenetic disorder characterized by persistent cognitive and functional impairments that necessitate lifelong care.
John Jarvis, Elizabeth Chertavian, Marric Buessing, Taylor Renteria, Lufei Tu, Lauren Hoffer, Ryan Fischer, Amanda Moore, Meagan Cross, Megan Tones   +9 more
doaj   +1 more source