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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.
Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: A Case Series.
Diagnostics (Basel)
December 2024
Department of Pediatrics, MacKay Memorial Hospital, Taipei 104217, Taiwan.
Article Synopsis
- Lesch-Nyhan syndrome (LNS) is a rare genetic disorder caused by HPRT deficiency, and early diagnosis is key to effective management.
- Three Taiwanese patients were studied to highlight early clinical signs like hyperuricemia and developmental delays, with exome sequencing confirming diagnoses.
- Findings showed common symptoms in all patients, and early genetic testing could lead to better outcomes by identifying the syndrome before severe manifestations develop.
Lesch-Nyhan Syndrome with Neurological Symptoms and Nephrocalcinosis.
Indian J Pediatr
December 2024
Department of Nephrology, Batman Training and Research Hospital, Batman, Turkey.
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.
A narrative review of monogenic disorders causing nephrolithiasis and chronic kidney disease.
Nephrology (Carlton)
December 2024
Department of Clinical Pharmacy, School of Pharmacy, Tehran University of Medical Sciences, Tehran, Iran.
Article Synopsis
- - The incidence of genetic diseases linked to chronic kidney disease (CKD) has been on the rise, prompting a review of monogenic causes related to kidney stone disorders.
- - Identified monogenic conditions include primary hyperoxaluria, cystinuria, and Dent disease, all of which can lead to CKD and possibly progress to end-stage kidney disease (ESKD).
- - It's important to conduct genetic testing in children with kidney stones, as a significant number of these patients may develop CKD due to underlying genetic disorders.
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