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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.
Background: Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by mutations in the gene, resulting in hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Early diagnosis is critical for optimizing management and improving outcomes. This study presents a case series of three Taiwanese patients diagnosed at a single medical center.
View Article and Find Full Text PDF[Self-enucleation in a psychiatric patient].
Ugeskr Laeger
December 2024
Afdeling for Øjensygdomme, Københavns Universitetshospital - Rigshospitalet Glostrup.
Self-enucleation is a rare but severe self-inflicted eye injury linked to psychiatric disorders like schizophrenia and bipolar disorder as well as substance abuse. Treatment requires a multidisciplinary approach involving urgent medical and surgical care, followed by long-term psychiatric treatment. In this case report, a 32-year-old woman presented to an ophthalmic emergency department after self-enucleation and was later admitted to a psychiatric ward.
View Article and Find Full Text PDFClinical, Ethical, and Legal Considerations Raised by Self-Reported Genital Mutilation Following Voluntary Cosmetic Labiaplasty.
Arch Sex Behav
December 2024
Gynecology Division, Department of Pediatrics, Obstetrics and Gynecology, Geneva University Hospitals, Boulevard de la Cluse 30, 1205, Geneva, Switzerland.
An increasing number of women are undergoing female genital cosmetic surgery (FGCS). Labiaplasty, the most commonly performed FGCS, consists of a surgical procedure to decrease the inner labia size so that no or less tissue protrudes beyond the outer labia. Anatomically, it is similar to female genital mutilation/cutting (FGM/C) Type 2a.
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