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Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome.
Front Pediatr
February 2024
Department of Pediatric Intensive Care, Children's Hospital, University of Duisburg-Essen, Essen, Germany.
Background/purpose: MEGDHEL syndrome is a rare autosomal recessive metabolic disorder, which is characterized by 3-methylglutaconic aciduria with deafness-dystonia, hepatopathy, encephalopathy and Leigh-like syndrome. It is caused by biallelic pathogenic variants in the gene. Due to the unspecific symptoms and the diverse manifestations of the clinical phenotype, the diagnosis is challenging.
View Article and Find Full Text PDFPOWERbreathe Inspiratory Muscle Training in Amyotrophic Lateral Sclerosis.
J Clin Med
November 2022
Faculty of Nursing, Physical Therapy and Podiatry, Universidad Complutense de Madrid, 28040 Madrid, Spain.
Inspiratory muscle training may benefit respiratory function, cardiocirculatory parameters, quality of life and functionality in neuromuscular diseases. This pilot study aimed to demonstrate the POWERbreathe® inspiratory muscle training effects on maximum inspiratory pressure (PImax), heart rate (HR) and HR variability, as well as the quality of life impairment and functionality in patients with Amyotrophic Lateral Sclerosis (ALS). A pilot single-blinded, non-randomized controlled clinical trial was carried out.
View Article and Find Full Text PDFLooking Back on 50 Years of Literature to Understand the Potential Impact of Influenza on Extrapulmonary Medical Outcomes.
Open Forum Infect Dis
August 2022
Sanofi, Lyon, France.
We conducted a scoping review of the epidemiological literature from the past 50 years to document the contribution of influenza virus infection to extrapulmonary clinical outcomes. We identified 99 publications reporting 243 associations using many study designs, exposure and outcome definitions, and methods. Laboratory confirmation of influenza was used in only 28 (12%) estimates, mostly in case-control and self-controlled case series study designs.
View Article and Find Full Text PDFLung transplant outcome following donation after euthanasia.
J Heart Lung Transplant
June 2022
Department of Thoracic Surgery, University Hospitals Leuven, Leuven, Belgium; Department of Chronic Diseases and Metabolism, Laboratory of Respiratory Diseases and Thoracic Surgery (BREATHE), KU Leuven, Leuven, Belgium.
Article Synopsis
- Organ transplantation faces challenges due to a lack of suitable organs, with "donation after cardio-circulatory death category V" (DCD-V) emerging as a potential solution following euthanasia.
- A study of lung transplants from 2007 to 2020 showed that lung transplants from DCD-V donors had similar rates of primary graft dysfunction and chronic lung allograft dysfunction compared to those from DCD-III and donation after brain death (DBD) donors.
- The findings suggest that lung transplants from DCD-V donors are both feasible and safe, with comparable patient survival rates, indicating that DCD-V could be a viable option in organ transplantation.
Validity and Reliability of a Novel Integrative Motor Performance Testing Course for Seniors: The "Agility Challenge for the Elderly (ACE)".
Front Physiol
February 2019
Department of Intervention Research in Exercise Training, Institute of Exercise Training and Computer Science in Sport, German Sport University Cologne, Cologne, Germany.
Assessing traditional neuromuscular fall risk factors (i.e., balance, gait, strength) in the elderly has so far mainly been done independently.
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