Practice Recommendations for Genetic Testing of Ataxias
ABSTRACT Objective Over the past decade, significant advances in genetic testing for ataxia have improved diagnostic accuracy, informed clinical trial eligibility, guided treatment decisions, and enabled cascade testing of at‐risk relatives. While guidance exists for other neurogenetic conditions, there are no standardized guidelines on genetic ...
Sharan R. Srinivasan+7 more
wiley +1 more source
Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil. [PDF]
Silva IMW, Gil-da-Silva-Lopes VL.
europepmc +1 more source
Chronic Pain in Parkinson’s Disease: Prevalence, Sex Differences, Regional Anatomy and Comorbidities
Chronic pain affected 66.2% of 10,631 individuals with Parkinson's disease, with higher prevalence and severity in females. Pain most often involved the buttocks, lower back, neck, and knees, and was linked to depression, sleep disorders, and osteoarthritis.
Natalia S. Ogonowski+13 more
wiley +1 more source
Pre‐Diagnostic Features of Multiple Sclerosis in a Diverse UK Cohort: A Nested Case–Control Study
ABSTRACT Background Many patients with Multiple Sclerosis (MS) experience nonspecific symptoms prior to diagnosis. This period—the 'MS prodrome'—has been described in socio‐economically homogeneous cohorts to date. It remains unclear to what extent events prior to an MS diagnosis differ according to social determinants of health. Methods We conducted a
Pooja Tank+3 more
wiley +1 more source
Socio-spatial inequalities in accessibility of Indigenous community-controlled mental health services in South East Queensland, Australia. [PDF]
Zhang L+8 more
europepmc +1 more source
SICHTWEISEN ÄLTERER MENSCHEN AUF MEDIZINISCHE VERSORGUNG AUF DEM LAND – EINE EMPIRISCHE STUDIE AUS DEUTSCHLAND [PDF]
With demographic change, many rural regions in Germany face the challenge to ensure an appropriate provision of basic services, also for the increasing share of immobile population groups.
Bergmann, Holger, Noack, Eva Maria
core +1 more source
Assessing a Mitochondrial Disease Treatment via a Novel Statistical Technique for Accelerometer Data
ABSTRACT Objective Therapeutic development for mitochondrial diseases, rare genetic disorders with pathogenic defects of oxidative phosphorylation, is hindered by unsatisfactory outcome measures. To address this problem, we provide the first clinical application of a novel, bias‐adjusted outcome measure of acceleration across a range of subjects ...
Ian W. McKeague+8 more
wiley +1 more source
Exploring the accessibility of health care service to Rohingya refugees in Malaysia
Suseela Devi Chandran+2 more
openalex +2 more sources
Accessibility of End-Stage Renal Disease Patients to Health Care Services of a Specialized Hospital
Md. Abdul Jabbar+4 more
openalex +2 more sources