Results 51 to 60 of about 5,487 (231)

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Anticholinergic Burden and Botulinum Toxin Needs after Deep Brain Stimulation in Adult and Pediatric Patients with Dystonia

Movement Disorders Clinical Practice, Volume 13, Issue 3, Page 774-778, March 2026.
Abstract Background Anticholinergic medications and botulinum neurotoxin injections are established treatments for dystonia, yet they carry potential side effects and practical challenges. Deep brain stimulation (DBS) is offered in case of poor response to these approaches.
Marcela A. Montiel, Alessandro Magliozzi, Wei Kang Lim, Carolina Gorodetsky, George M. Ibrahim, Alfonso Fasano   +5 more
wiley   +1 more source

Metabolic profiling reveals therapeutic effects of Herba Cistanches in an animal model of hydrocortisone-induced 'kidney-deficiency syndrome' [PDF]

, 2008
Background: Herba Cistanches (Roucongrong) is effective in treating Shenxu Zheng ('kidney-deficiency syndrome'). However, the mechanisms and systemic metabolic responses to the herbal intervention are unclear.
Yunping Qiu, Minjun Chen, Mingming Su, Guoxiang Xie, Xin Li, Mingmei Zhou, Aihua Zhao, Jian Jiang, Wei Jia   +8 more
core   +1 more source

Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutation

Stem Cell Research
Lesch-Nyhan syndrome (LNS, MIM300322) is a rare inherited disorder caused by mutations in HPRT1 gene. Here we describe the generation of induced pluripotent stem cells (iPSCs) from an infected child carrying the HPRT1 mutation c.508C > T(p.R170X) by ...
Yue Li, Huawei Zhang, Jingyun Guan, Bin Wang, Haiyan Zhang, Yi Liu, Zhongtao Gai   +6 more
doaj   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Current status of drug screening and disease modelling in human pluripotent stem cells [PDF]

, 2012
The emphasis in human pluripotent stem cell (hPSC) technologies has shifted from cell therapy to in vitro disease modelling and drug screening. This review examines why this shift has occurred, and how current technological limitations might be overcome ...
Crutchley, James, Denning, Chris, George, Vinoj, Kalra, Spandan, Matsa, Elena, Patel, Asha, Rajamohan, Divya   +6 more
core   +2 more sources

‘What's in a Name?’ Naming Genetically Determined Movement Disorders: Gap and Controversy

Movement Disorders, Volume 41, Issue 2, Page 342-350, February 2026.
Abstract In 2016, the International Parkinson and Movement Disorder Society (MDS) Task Force for Genetic Nomenclature in Movement Disorders laid out a new proposal for naming genetically determined movement disorders. This proposal sought to address the difficulties arising from the practical usage of numbered loci (eg, DYT1, DYT2, DYT3, etc.) as names
Connie Marras, Alberto Albanese, Mark Hallett, Christine Klein, Katja Lohmann, the Genetic Nomenclature in Movement Disorders Study Group Steering Committee, Christos Ganos, Sarah Camargos, Anthony E. Lang, Darius Ebrahimi‐Fakhari, Claudia Del Gamba, Bart van de Warrenburg, Lakshya Basumatary, Lara Lange, Diana Olszewska, Zhidong Cen, Kishore Kumar, Mohamed Zahir, Carolyn Sue, H.A. Jinnah   +19 more
wiley   +1 more source

Self-inflicted penetrating eye injuries using a razor blade: Case report [PDF]

, 2009
BACKGROUND: A 23 year old white male with a history of social and behavioural problems attempted to blind himself chemically, with alcohol, and mechanically, with a razor blade. METHODS: Observational case report of a patient who self-inflicted bilateral
Hessom Razavi, Nicholas Price, AR Favazza, R Brown, BL Kennedy, N Patton, Sophocles, M Ang, DM Blackmon, C Haw, D Zahl, E Guthrie, K Skegg   +12 more
core   +3 more sources

Normal Uricemia in Lesch–Nyhan Syndrome and the Association with Pulmonary Embolism in a Young Child—A Case Report and Literature Review

Pediatrics and Neonatology, 2014
Deficiency of hypoxanthine phosphoribosyltransferase activity is a rare inborn error of purine metabolism with subsequent uric acid overproduction and neurologic presentations.
Jeng-Dau Tsai, Shan-Ming Chen, Chien-Heng Lin, Min-Sho Ku, Teng-Fu Tsao, Ji-Nan Sheu   +5 more
doaj   +1 more source

Paddy Stem–Derived Activated Carbon‐Based Uricase Biosensor for Highly Sensitive Electrochemical Detection of Uric Acid

Journal of Nanotechnology, Volume 2026, Issue 1, 2026.
For the diagnosis and management of metabolic diseases, such as gout, hyperuricemia, hypertension, and diabetes, accurate and timely measurement of uric acid (UA) is essential. This article presents the design of low‐cost and eco‐friendly enzymatic electrochemical biosensors to detect UA through the use of porous activated carbon nanomaterial (PSAC ...
Poonam Thakur, Nancy George, Neha Kondal, Kamal Kishor Thakur, Puja Jaiswal, Jagpreet Singh   +5 more
wiley   +1 more source