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Evaluating psychiatric care for people with Prader-Willi syndrome.
Evid Based Nurs
January 2025
Nursing, Athabasca University, Athabasca, Alberta, Canada.
Life-Threatening Respiratory Complications in Two Young Children with Extreme Obesity.
Children (Basel)
December 2024
Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, University Clinical Hospital No. 1, Pomeranian Medical University in Szczecin, 71-215 Szczecin, Poland.
Background/objectives: Obesity is a chronic disease characterized by pathological accumulation of adipose tissue. The exponentially increasing number of children with severe obesity draws attention to the tragic consequences of the lack of, or inadequate treatment of, obesity in this age group. This article aims to present ways of preventing obesity and ways of treating its complications in order to reduce the risk of the life-threatening problems caused by it.
View Article and Find Full Text PDFHistamine H receptor antagonists/inverse agonists: a patent review (October 2017 - December 2023) documenting progress.
Expert Opin Ther Pat
January 2025
Department of Technology and Biotechnology of Drugs, Jagiellonian University Medical College, Kraków, Poland.
Introduction: Histamine H receptor antagonists/inverse agonists, since the discovery of histamine H receptor (HR), are important ligands in the search for new potential drugs. The most interesting are CNS diseases as these receptors are mainly there present.
Areas Covered: The current review covers patent applications/patents that were published during the last 6 years (October 2017 - December 2023).
Concordance of whole-genome long-read sequencing with standard clinical testing for Prader-Willi and Angelman syndromes.
J Mol Diagn
January 2025
Department of Laboratory Medicine and Pathology, University of Washington and Seattle Children's Hospital, Seattle, WA, USA; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA. Electronic address:
Article Synopsis
- Current clinical testing for imprinting disorders is complicated and usually involves several tests to get a clear diagnosis.
- We explored the use of whole-genome long-read sequencing (LRS) as a single test to analyze different genetic variations and methylation patterns in individuals with Prader-Willi or Angelman syndrome.
- Our results showed that LRS can accurately diagnose these conditions efficiently and could simplify testing while lowering costs and speeding up results in clinical settings.
Loop gain and central chemosensitivity assessment as a valuable tool in guiding treatment decisions for central sleep apnea in children.
J Clin Sleep Med
December 2024
Université de Paris-Cité, AP-HP, Hôpital Robert Debré, Service de Physiologie Pédiatrique-Centre du Sommeil, INSERM NeuroDiderot, Paris, France.
This study presents two cases of central sleep apnea syndrome in children, highlighting the utility of assessing ventilatory control stability, particularly loop gain and central chemosensitivity in treatment decision-making. In the first case, elevated loop gain for oxygen correlated with periodic breathing, leading to successful treatment with supplemental oxygen in a 13 year-old boy with Prader-Willi-like syndrome. Conversely, in the second case, dealing with a 10 year-old girl with tumor in the brainstem-spinal cord junction, reduced loop gain prompted treatment with nocturnal non-invasive ventilation.
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