Results 41 to 50 of about 1,060,824 (268)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Penilaian Kemampuan Kognitif dan Psikomotor Perawat Panti Werdha dalam Penilaian Inkontinensia Urin pada Lansia di Panti Surya Surabaya

Critical Medical and Surgical Nursing Journal, 2019
Introduction: Basic assessment in elderly with urinary or bladder dysfunction need holistically and comprehensive approach. A nurse should be given special training to assess and manage urinary incontinence, because it's complexity especially in elderly.
Abigael Grace Prasetiani, Ika Yuni Widyawati, Sukma Randani Ismono   +2 more
doaj   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Developing a virtual reality application for online arts and psychomotor therapies using action research

Frontiers in Virtual Reality
BackgroundVirtual Reality (VR) holds much promise for online offering of arts and psychomotor therapies. As these therapies use bodily experiences, expressive/artistic media, materials, movement, music, and (role) play, VR is more suitable than online ...
Nathalie Jans, Nathalie Jans, Hans Wouters, Joep Kolijn, Suzanne Haeyen, Suzanne Haeyen, Suzanne Haeyen   +6 more
doaj   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Promoting psychological adaptability and well-being of patients with personality disorders with creative arts and psychomotor therapies: protocol of an intervention mapping study

BMJ Open
Introduction Personality disorders (PDs) cause much suffering. In treating patients with PDs, it is important not only to focus on reducing symptoms, but also on promoting psychological adaptability and well-being.
Hans Wouters, Jackie Heijman, Suzanne Haeyen, Imke CM Wiersma, Karin Timmerman, Gerben J Westerhof, Mirjam Radstaak   +6 more
doaj   +1 more source

Navigating AI with pedagogical purpose: Toward an anatomy‐centered framework for AI‐enhanced learning

Anatomical Sciences Education, EarlyView.
Abstract Artificial Intelligence (AI) has emerged as a transformative force in medical education, enabling customized, feedback‐rich, and immersive learning experiences. Anatomy education, as a discipline that is simultaneously visual, spatial, and clinically foundational, occupies a distinctive position within this technological landscape.
Rachel Jayasekhar, Gok Kandasamy
wiley   +1 more source

Interference of psychomotor and spatio-temporal parameters on the efficiency of motor actions involved in the eastern species physical culture

Pedagogics, Psychology, Medical-Biological Problems of Physical Training and Sports, 2014
Purpose: to identify interferences psychomotor abilities for consistency in the management of spatio-temporal parameters of procedural and final precision in the movements with complex motor structure.
Yong Qiang Liu
doaj   +1 more source

Optimum fuzzy based approach to improve the instrument’s performance affected by environmental conditions [PDF]

Serbian Journal of Electrical Engineering, 2013
The performance of instrument has been analyzed, considering the ideal conditions and results which have been obtained when the instrument is subjected to diversified combination of environmental conditions.
Verma Avnesh, Anand Tiwari Vishnu
doaj   +1 more source