Results 21 to 30 of about 8,820 (262)
An unanticipated difficult airway in Lesch-Nyhan syndrome.
J Anaesthesiol Clin Pharmacol, 2012 An 11-year-old boy with Lesch-Nyhan syndrome presented to the emergency for fixation of a fractured femur. During induction of general anesthesia, unexpected difficult intubation was encountered with a 6.5-mm ID endotracheal tube and successively smaller
Salhotra R +5 more
europepmc +3 more sources
LESCH-NYHAN SYNDROME – late diagnosis of rare disease: clinical case
Journal of V. N. Karazin Kharkiv National University: Series Medicine, 2021 Background. Lesch-Nyhan syndrome is inherent X-linked recessive genetic disorder with decreased activity of hypoxanthine-guanine phosphoribosyltransferase (HGPRT).
Oleksii Khaniukov +7 more
doaj +2 more sources
Delayed emergence from propofol anesthesia in a patient with Lesch-Nyhan syndrome: A case report. [PDF]
Medicine (Baltimore), 2020 Rationale: Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder presenting with uric acid overproduction, neurocognitive disability, and behavioral disturbances. Inhalational anesthesia has been frequently used in LNS patients undergoing surgery.
Lee J, Jung SM, Jeon S.
europepmc +3 more sources
Prenatal Diagnosis of Lesch-Nyhan Syndrome
Pediatric Neurology Briefs, 1995 The results of carrier and prenatal diagnosis for Lesch-Nyhan syndrome by carrier testing of 83 women and prenatal analysis of 26 pregnancies are reported from the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
J Gordon Millichap
doaj +3 more sources
Lesch-Nyhan Syndrome: Models, Theories, and Therapies. [PDF]
Mol Syndromol, 2016 Bell S, Kolobova I, Crapper L, Ernst C.
europepmc +3 more sources
Lesch-Nyhan Syndrome: Disorder of Self-mutilating Behavior. [PDF]
Int J Clin Pediatr Dent, 2016 Lesch-Nyhan syndrome (LNS), a rare inborn error of metabolism, is characterized by self-injurious behavior, which results in partial or total destruction of oral and perioral tissues and/ or fingers. Persistent self-injurious behavior (biting the fingers,
Jathar P, Panse AM, Jathar M, Gawali PN.
europepmc +3 more sources
Pediatric Neurology Briefs, 1988 Five boys with Lesch-Nyhan syndrome and varying degrees of dystonia, chorea, spasticity, ataxia, dysarthria, and mental retardation were studied at the Depts of Neurology and Medicine, Baylor College of Medicine, and Depts of Neurology and Pediatrics, University of Texas Health Science Center, Houston, TX.
J Gordon Millichap
openaire +5 more sources
A Modified Intraoral Resin Mouthguard to Prevent Self-Mutilations in Lesch-Nyhan Patients [PDF]
International Journal of Dentistry, 2014 Lesch-Nyhan syndrome, described in 1964 by Lesch and Nyhan, is a X-linked recessive disorder, occurring in 1 : 100000 to 1 : 380000 live births. LNS is characterized by a decrease in activity of hypoxanthine guanine phosphoribosyl transferase, an enzyme ...
Alessia Delucchi +4 more
core +4 more sources
Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females [PDF]
Arquivos de Neuro-Psiquiatria, 1999 The mutation in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene has been determined in two brothers affected with Lesch-Nyhan syndrome. Female members of the family who are at risk for being heterozygous carriers of the HPRT mutation were ...
PATRICK O'NEILL +10 more
doaj +3 more sources
Proceedings of the National Academy of Sciences of the United States of America, 1989 The Lesch-Nyhan (LN) syndrome is a severe X chromosome-linked disease that results from a deficiency of the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HPRT).
Richard A. Gibbs +4 more
semanticscholar +2 more sources