Results 21 to 30 of about 5,948 (186)

An unanticipated difficult airway in Lesch-Nyhan syndrome

Journal of Anaesthesiology Clinical Pharmacology, 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
Rashmi Salhotra, Chhavi Sharma, Asha Tyagi, Surendra Kumar, A K Sethi, Shuchi Bhatt   +5 more
doaj   +1 more source

Paths to functional communication of children with developmental anarthria - case reports

Listy klinicke logopedie, 2022
We introduce the application of alternative and augmentative communication aids in children with combined disabilities and symptomatic speech disorders.
Milada Janoušková, Jitka Komrsková, Jana Havlíčková   +2 more
doaj   +1 more source

Lesch-Nyhan syndrome: case brief of a rare disease [PDF]

, 2018
Lesch-Nyhan Syndrome is a rare X- linked disease due to absence of HPRT enzyme. It leads to hyperuricemia, gout, renal failure, neurological and behavioural disorders, including compulsive self-mutilation. Management includes drugs against hyperuricemia,
Agarwalla, Sunil Kumar, Satapathy, Jagatshreya   +1 more
core   +2 more sources

Neurological Variants of Lesch-Nyhan Disease

Pediatric Neurology Briefs, 2010
A prospective, multicenter international study of neurological manifestations of Lesch-Nyhan disease variants is reported from Emory University School of Medicine, Atlanta, GA.
J Gordon Millichap
doaj   +1 more source

Self‐injurious behaviour: limbic dysregulation and stress effects in an animal model [PDF]

, 2012
Background  Self‐injurious behaviour (SIB) is prevalent in neurodevelopmental disorders, but its expression is highly variable within, and between diagnostic categories. This raises questions about the factors that contribute to aetiology and expression
Accardo, Anderson, Breese, Covington, Davenport, Ernst, Favell, Fuller, Gaspar, Gilbert, Gonzalez-Lima, Graybiel, Green, Hatefi, Huhman, Kemp, Kies, Konkle, Le Moine, Lesch, Lindauer, Lloyd, Marcinkiewcz, Martinez, Martinez, Matson, McCracken, Miczek, Muehlmann, Muehlmann, National Research Council, Novak, Paxinos, Rojahn, Ruedrich, Sandman, Sandman, Schretlen, Shapira, Sovner, Stodgell, Symons, Symons, Symons, Verhoeven, Wong-Riley   +45 more
core   +1 more source

Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients

Journal of Inborn Errors of Metabolism and Screening, 2021
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a disorder of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its variants, HPRT-related hyperuricemia with neurologic dysfunction (HND) and HPRT-related hyperuricemia ...
Laura E. Laróvere, Lynette D. Fairbanks, H. A. Jinnah, Norberto B. Guelbert, Emilia Escuredo, Adriana Becerra, Raquel Dodelson de Kremer   +6 more
doaj   +1 more source

Action Dystonia in Lesch-Nyhan Disease

Pediatric Neurology Briefs, 2006
The motor disorder associated with Lesch-Nyhan disease (LND) was studied in a total of 44 patients (ages 2 to 38 years) seen at Johns Hopkins Hospital, Baltimore, MD, and other US and international centers.
J Gordon Millichap
doaj   +1 more source

Efficient cDNA cloning by direct phenotypic correction of a mutant human cell line (HPRT-) using an Epstein-Barr virus derived cDNA expression vector. [PDF]

, 1991
Human cells are, in general, poor recipients of foreign DNA, which has severely hampered the cloning of genes by direct phenotypic correction of deficient human cell lines after DNA mediated gene transfer. In this communication a methodology is presented
Backendorf, C.M.P. (Claude), Belt, P.B.G.M., Hoeijmakers, J.H.J. (Jan), Jongmans, W., Putte, P. (Pieter) van de, Wit, J. (Jan) de   +5 more
core   +2 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   +1 more source

Analysis of Synaptic Proteins in the Cerebrospinal Fluid as a New Tool in the Study of Inborn Errors of Neurotransmission [PDF]

, 2011
In a few rare diseases, specialised studies in cerebrospinal fluid (CSF) are required to identify the underlying metabolic disorder. We aimed to explore the possibility of detecting key synaptic proteins in the CSF, in particular dopaminergic and ...
A García-Cazorla, A García-Cazorla, A García-Cazorla, A Ormazabal, A Rustom, A Zougman, Ana Pérez, Angels García-Cazorla, C Mei De, Carlos Ortez, D Biou, E Thouvenot, EA Bolan, EA Cartier, FA Witzmann, I Corradini, I Marín-Valencia, J Eriksen, JA Kauer, JC Heyden Van Der, KE Sorra, LA Egaña, M Serrano, MA Willemsen, MG Harrington, Rafael Artuch, SB Glickstein, Sofia T. Duarte, TC Südhof, TC Südhof, TJ Volz, TJ Volz   +31 more
core   +1 more source