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Lesch-Nyhan Syndrome and Oral Self-injury: A Systematic Review of Case Reports.
Int J Clin Pediatr Dent
December 2024
Department of Dental Research Cell, Dr D Y Patil Dental College and Hospital, Dr D Y Patil Vidyapeeth, Pune, Maharashtra, India.
Background: This systematic analysis of case reports aimed to compile available knowledge and identify trends in disorder onset, symptoms, treatment, and possible interventions across individual cases associated with Lesch-Nyhan syndrome (LNS) oral self-injury.
Materials And Methods: "Lesch-Nyhan syndrome" and "oral self-mutilation" were entered as keywords in four search engines. All cases reporting the patients' demographics and documented episodes of self-mutilation, with details on treatment and management, were included.
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
medRxiv
December 2024
Institute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.
Article Synopsis
- Dystonia is a common movement disorder with a complex genetic background, showing significant variability in its clinical presentation and genetics.
- The study involved exome sequencing of nearly 1,924 patients, mainly from two major registries, focusing on those with genetic prescreening negative results and early age at onset.
- Researchers discovered 137 likely pathogenic variants in 51 genes among the patients, with many being novel, highlighting the challenges in diagnosing and understanding the disorder's genetic links.
Unleashing the Power of Induced Pluripotent stem Cells in in vitro Modelling of Lesch-Nyhan Disease.
Stem Cell Rev Rep
November 2024
Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, via Aldo Moro 2, Siena, 53100, Italy.
Article Synopsis
- Lesch-Nyhan disease (LND) is a rare genetic disorder caused by a deficiency in the HPRT enzyme, leading to motor disabilities, cognitive deficits, and self-harm behaviors.
- Recent advances in stem cell research, particularly with human pluripotent stem cells, provide new methods to study LND's underlying neurological mechanisms.
- This review evaluates current stem cell models for LND, their potential for uncovering key pathological events, and discusses challenges and future directions for improving research using induced pluripotent stem cells.
Management of neurological symptoms in Lesch-Nyhan disease: A systematic review.
Neurosci Biobehav Rev
October 2024
Department of Developmental Neurology, Medical University of Gdansk, Gdansk 80-211, Poland. Electronic address:
Article Synopsis
- - Lesch-Nyhan Disease (LND) is a rare genetic disorder caused by mutations in a specific gene, resulting in neurological issues like abnormal movement and self-harm, which are hard to treat.
- - A systematic review of 34 studies found that many had high bias, and there were significant differences in how treatments were applied and evaluated, leading to inconsistent results.
- - The most researched treatments, such as S-Adenosylmethionine and Deep Brain Stimulation, need more investigation, and there is a pressing need for better study designs to improve the assessment of treatment effectiveness in LND.
Duration of botulinum toxin efficacy in cervical dystonia clinical trials: A scoping review.
Parkinsonism Relat Disord
August 2024
Department of Neurology, IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy.
Article Synopsis
- Botulinum toxin (BoNT) is the standard treatment for cervical dystonia (CD), requiring injections every 3-4 months, but the effectiveness during this time varies and affects patients' quality of life.
- A scoping review assessed existing phase 3 clinical trial evidence on BoNT for CD, revealing inconsistent methods for measuring the duration of its effect, which often does not align with real-world patient needs.
- There is a need for improved evidence and consistent reporting on the duration of BoNT's effects to help clinicians customize treatment intervals and better manage symptoms for patients.
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