Prader-Willi syndrome (PWS) is a complex genetic disorder characterised by a set of phenotypic traits, which include infantile hypotonia, short stature, and morbid obesity. Over the last 12 years, visible progress has been made in medical care management of PWS patients in Poland. Increasing awareness of the disorder in neonatal and paediatric care has led to early identification of the condition in neonates, followed by the institution of an appropriate dietary regime, introduction of physiotherapy, and early-onset recombinant human growth hormone (rhGH) treatment. Growth hormone (GH) therapy in Poland is conducted within the nationwide framework of the Therapeutic Programme: "Treatment of Prader-Willi Syndrome". The therapeutic interventions initiated in the paediatric centres need to be continued in multidisciplinary adult care settings. The main aim of PWS clinical management in adulthood is prevention of obesity and its comor-bidities, treatment of hormonal disorders, mental health stabilisation, nutritional guidance, as well as on-going physiotherapy. Integrated multidisciplinary therapeutic intervention is necessary if patients with such a complex genetic condition as PWS are to not only achieve an average life expectancy but also to enjoy higher quality of life.
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http://dx.doi.org/10.5603/EP.2018.0047 | DOI Listing |
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).
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:
Current clinical testing approaches for individuals with suspected imprinting disorders are complex, often requiring multiple tests performed in a stepwise fashion to make a precise molecular diagnosis. We investigated whether whole-genome long-read sequencing (LRS) could be used as a single data source to simultaneously evaluate copy number variants (CNVs), single nucleotide variants (SNVs), structural variants (SVs), and differences in methylation in a cohort of individuals known to have either Prader-Willi or Angelman syndrome. We evaluated 25 individuals sequenced to an average depth of coverage of 36x on an Oxford Nanopore PromethION.
View Article and Find Full Text PDFJ 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.
View Article and Find Full Text PDFSci Rep
December 2024
Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, 410078, Hunan, P. R. China.
Dopamine (DA) plays important roles in various behaviors, including learning and motivation. Recently, THOC5 was identified as an important regulator in the development of dopaminergic neurons. However, how THOC5 is regulated has not been explored.
View Article and Find Full Text PDFSci Rep
December 2024
Department of Paediatric Dentistry, Medical University of Warsaw, St. Binieckiego 6, 02-097, Warsaw, Poland.
Patients with genetic syndromes require special dental attention because they have symptoms that promote plaque accumulation, dental erosion, dental caries and gingival diseases. The aim of the study was to assess hygienic behaviors, use of dental care and frequency of professional preventive procedures among Polish children and adolescents with Prader-Willi, Down, Angelman, Silver-Russell and Smith-Lemli-Opitz syndromes. Parents/legal guardians of children and adolescents with genetic syndromes were included.
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