Results 61 to 70 of about 2,250 (157)

Late diagnosis of Lesch–Nyhan disease complicated with end-stage renal disease and tophi burst: a case report

Renal Failure, 2020
Background Lesch–Nyhan disease (LND) is a rare X-linked recessive inborn error of purine metabolism. Late diagnosis of LND may cause significant morbidity. LND cases have never been reported in Indonesia.
Cahyani Gita Ambarsari, Daffodilone Cahyadi, Lenny Sari, Oryza Satria, Felly Sahli, Thyrza Laudamy Darmadi, Agustina Kadaristiana   +6 more
doaj   +1 more source

A case of attempted bilateral self-enucleation in a patient with bipolar disorder

Mental Illness, 2017
Attempted and completed self-enucleation, or removal of one’s own eyes, is a rare but devastating form of self-mutilation behavior. It is often associated with psychiatric disorders, particularly schizophrenia, substance induced psychosis, and bipolar ...
Hannah Muniz Castro, John Alvarez, Robert G. Bota, Marc Yonkers, Jeremiah Tao   +4 more
doaj   +1 more source

Lesch-Nyhan syndrome: a case report. [PDF]

J Korean Assoc Oral Maxillofac Surg, 2023
Park HI, Kim GH, Ahn KM.
europepmc   +1 more source

Epidemiology and types of urolithiasis

Pediatria i Medycyna Rodzinna, 2019
Urolithiasis is a lifestyle disease. Sex, age, race, place of residence (geographical region), chronic diseases, lifestyle (including diet) and various genetic factors contribute to the risk of calculus formation within the urinary tract.
Agnieszka Szmigielska, Piotr Skrzypczyk, Małgorzata Pańczyk-Tomaszewska   +2 more
doaj   +1 more source

The Role of Video-EEG Monitoring in Lesch-Nyhan Syndrome. [PDF]

Maedica (Bucur), 2023
Roza E, Baloi AD, Plaiasu V, Teleanu RI.
europepmc   +1 more source

Oral Self-Mutilation in Lesch-Nyhan Syndrome: A Case Report. [PDF]

Cureus, 2022
Ferrão J, Rodrigues Barros C, Figueiredo L, Fernandes A.   +3 more
europepmc   +1 more source

Comments regarding the paper "Lesch-Nyhan syndrome: a case report" published recently by Park et al. in J Korean Assoc Oral Maxillofac Surg. [PDF]

J Korean Assoc Oral Maxillofac Surg, 2023
Shapira J.
europepmc   +1 more source

The trend toward digital in medical education – playing devil's advocate

Advances in Medical Education and Practice, 2015
Osama Al-jibury, Maroof Ahmed, Muhammad Najim, Riham Rabee, Muhammad Ashraf, Yusuf Sherwani, Osama AnjumDepartment of Medicine, Imperial College Medical School, London, UKDigitalization of medical resources has completely revolutionized medical education.
Al-Jibury O, Ahmed M, Najim M, Rabee R, Ashraf M, Sherwani Y, Anjum O   +6 more
doaj  

Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome. [PDF]

J Genet Couns, 2022
Zhang T, Briere JM, Leeman KT, Wojcik MH, Agrawal PB.   +4 more
europepmc   +1 more source

A rare occurrence of xanthine urolithiasis in siblings with Lesch–Nyhan syndrome treated with Allopurinol—a case report

Bulletin of the National Research Centre
Introduction Lesch–Nyhan syndrome (LNS) is an X-linked disorder affecting the metabolism of the purine salvage pathway leading to excessive serum uric acid production.
Roberto Jodorkovsky, Saloni Trivedi, Asama Rana, Mitchell Thomae   +3 more
doaj   +1 more source