Results 131 to 140 of about 494,864 (295)

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

From diagnosis to routine care in type 1 diabetes in children: Parents’ experiences

, 2019
Having a child who lives with a Type 1 Diabetes (T1D) can represent a high burden for parents. The objective of our study is to identify and analyze the main challenges expressed by parents so that health care services better meet the needs of parents of
Monia Rekik, Maude Laberge, Laberge, Maude, Heilporn, Géraldine, Côté, André, Rekik, Monia, Géraldine Heilporn, André Côté   +7 more
core   +1 more source

“We were learning together and it felt good that way.” A case study of a participatory group music program for cancer patients

, 2017
Though there are similarities to music therapy, the field of community music in healthcare, while in its infancy, is steadily growing. This case study explored how semi-formal, active music-making can play a role in illness and recovery and provide ...
Laurie Sadowski, Sadowski, Laurie
core   +1 more source

“It's Not Deterministic and It Will Never Be Deterministic”: A Qualitative Study on Stakeholder Perspectives of Polygenic Risk Score Testing for Post‐Traumatic Stress Disorder

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Post‐traumatic stress disorder (PTSD) causes significant mental and physical distress, yet only a small subset of individuals exposed to trauma develop the disorder. Scientists and clinicians are still unable to predict who will get the disorder or how it will manifest.
Brandy M. Fox
wiley   +1 more source

Perspectives of Women with Breast Cancer and Healthcare Providers Participating in an Adherence-Enhancing Program for Adjuvant Endocrine Therapy: A Qualitative Study

Current Oncology
Background: Adjuvant endocrine therapy (AET) is prescribed for 5–10 years to women with hormone-sensitive breast cancer to prevent recurrence. However, a significant proportion of women do not adhere to AET. We developed SOIE, a one-year program designed
Véronique Turcotte, Laurence Guillaumie, Martine Lemay, Anne Dionne, Julie Lemieux, Angéline Labbé, Carolyn Gotay, Line Guénette, Sophie Lauzier   +8 more
doaj   +1 more source

Using interpretative phenomenological analysis to inform physiotherapy practice: An introduction with reference to the lived experience of cerebellar ataxia

, 2010
The attached file is a pre-published version of the full and final paper which can be found at the link below.This article has been made available through the Brunel Open Access Publishing Fund.Qualitative research methods that focus on the lived ...
Elizabeth Cassidy, Cassidy, E, Lorraine De Souza, Frances Reynolds, Reynolds, F, Sandra Naylor, Naylor, S, De Souza, LH   +7 more
core   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

a soft felt logic [PDF]

A soft felt logic is a textile exploration situated in the ‘soft felt’ experience, one which questions, prioritises, and plays with the sense of touch.
Lovink McKinnell, Sal
core  

Felt-Concrete Composites in Architecture and Design

, 2022
The paper explores the possibilities of a composite of needle-felt fibres and cement-based matrix for designing and fabricating architectural elements. It summarizes the longer standing design-research undertaking in needle-felting as a novel method for ...
Becker, Mirco
core  

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source