Results 31 to 40 of about 2,250 (157)

A Modified Intraoral Resin Mouthguard to Prevent Self-Mutilations in Lesch-Nyhan Patients

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 ...
Giulia Ragazzini, Alessia Delucchi, Enrico Calcagno, Roberto Servetto, Gloria Denotti   +4 more
doaj   +1 more source

Lesch-Nyhan Syndrome: Evaluation of a Modified Bite Device to Prevent Bite Injuries

Applied Sciences, 2020
Lesch-Nyhan syndrome (LNS) is a serious form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary purine metabolism disorder. The prevalence reported in the literature is 1/380,000 to 235,000 births.
Gaetano Ierardo, Valeria Luzzi, Gian Luca Sfasciotti, Antonella Polimeni, Maurizio Bossù   +4 more
doaj   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients

Clinical Genetics, Volume 110, Issue 3, Page 379-388, September 2026.
Novel variants in PUS7 associated with intellectual disability and growth retardation: expanding the clinical spectrum in 13 patients. ABSTRACT Pseudouridylation is a frequent post‐transcriptional modification resulting in uridine isomerization in 5‐ribosyluracil, also called pseudouridine. This mechanism leads to RNA stability with an increase in base‐
Camille Bergès, Clément Sauvestre, Sophie Naudion, Catherine Vincent Delorme, Thomas Smol, Mélanie Rama, Stephanie Moortgat, Isabelle Maystadt, Rogier Kersseboom, Martina Wilke, Tahsin Stefan Barakat, Yoann Vial, Laurence Perrin, Sandrine Passemard, Farooq Ahmad, Muhammad Umair, Tobias Haack, Mona Grimmel, Alma Kuechler, Anne Slavotinek, Patrick Devine, Ugur Hodoglugil, Faisal Zafar, Erum Afzal, Tracy Dudding‐Byth, Guillaume Jouret, Lucas Herissant, Stephanie Efthymiou, Henry Houlden, Marine Legendre, Vincent Michaud   +30 more
wiley   +1 more source

EFFECTIVE STOMATOLOGICAL MAINTENANCE OF PEDIATRIC PATIENT WITH LESCH–NYHAN SYNDROME

Вопросы современной педиатрии, 2014
A rare clinical case of stomatological maintenance of 11-year old boy with Lesch-Nyhan syndrome (primary x-linked hyperuricemia) is demonstrated in the article. In order to decrease trauma risk of oral cavity organs and soft tissues (due to autoagression)
N. V. Tarasova, V. G. Galonskii
doaj   +1 more source

Discovering functionally important sites in proteins

Nature Communications, 2023
Proteins play important roles in biology, biotechnology and pharmacology, and missense variants are a common cause of disease. Discovering functionally important sites in proteins is a central but difficult problem because of the lack of large ...
Matteo Cagiada, Sandro Bottaro, Søren Lindemose, Signe M. Schenstrøm, Amelie Stein, Rasmus Hartmann-Petersen, Kresten Lindorff-Larsen   +6 more
doaj   +1 more source

Nucleotide Metabolism in Health and Disease

MedComm, Volume 7, Issue 8, August 2026.
Nucleotide metabolism, including de novo synthesis, salvage pathways, and catabolism, when dysregulated contributes to cancer, immune disorders, metabolic and urological diseases, and radiation injury. Metabolites such as adenosine, cGAMP, NAD, and cAMP and enzymes like RNR are promising therapeutic targets and biomarkers.
Xiaoying Zhao, Yiyu Zeng, Yike Xu, Shu Rao, Mouna Khouchani, Hassna Soummane, Jingyi Li, Rui Liu   +7 more
wiley   +1 more source

Tipping point and molecular mechanism of the transformation of lung adenocarcinoma in situ to invasive adenocarcinoma: A study based on dynamic network markers in systems biology

Clinical and Translational Discovery, Volume 6, Issue 3, June 2026.
A dynamic network biomarker (DNBs) linking the transformation from lung AIS to IAC. Key differential genes and pathways were identified, establishing MIA as the critical tipping point for transformation. Abstract Background Lung adenocarcinoma in situ (AIS), characterised by ground‐glass nodules as observed in computed tomography imaging, generally ...
Lin Shi, Longfu Zhang, Jiebai Zhou, Dawei Yang, Mingxiang Feng, Yong Zhang   +5 more
wiley   +1 more source

Habitual biting of a finger in a child

Indian Journal of Paediatric Dermatology, 2017
A 3-year-old male child was brought by his parents with a nonhealing ulcer on the right middle finger having no significant history except for an injury sustained to the right elbow in December 2013. On further probing, the mother revealed that the child
K N Sarveswari, M Riswana Jasmine, N Mahesh   +2 more
doaj   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, Volume 13, Issue 6, Page 1383-1398, June 2026.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source