Results 51 to 60 of about 2,914 (160)

Continued Involvement: A Scoping Review on Family Members' Needs and Experiences Collaborating With Support Staff for Relatives With Intellectual Disabilities Living Outside the Family Home

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Family members' involvement in the care for their relative often continues after their relative has moved out of the family home. However, little is known about the needs of family members when collaborating specifically with support staff caring for their relative.
Frances R. Vereijken, Noud Frielink, Andrew Jahoda, Petri J. C. M. Embregts   +3 more
wiley   +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

PAK1 inhibitor NVS‐PAK1‐1 preserves dendritic spines in amyloid/tau exposed neurons and 5xFAD mice

Alzheimer's &Dementia, Volume 21, Issue 12, December 2025.
Abstract INTRODUCTION Synaptic spine loss in Alzheimer's disease (AD) contributes to cognitive decline. p21‐activated kinase 1 (PAK1), a regulator of spine integrity, is aberrantly activated in AD. We investigated whether PAK1 inhibition might preserve dendritic spines in vitro and in vivo.
Tao Yang, Hasi Huhe, Sean‐Paul Williams, Sukhneet Kaur, Yeonglong Albert Ay, Zachary W. Davis‐Gilbert, Gregory A. Cary, Carolyn Paisie, Robert R. Butler III, Jesse Wiley, Ranjita Betarbet, Haian Fu, Duc Duong, Nicholas T. Seyfried, Karina Leal, Gregory W. Carter, Aled Edwards, Allan I. Levey, Jacob L. Capener, David H. Drewry, Mohammad A. Hossain, Hans J. Oh, Alison D. Axtman, Stacey J. Sukoff Rizzo, Frank M. Longo, The Emory‐Sage‐SGC‐Jax TREAT‐AD Center   +25 more
wiley   +1 more source

A Comprehensive Review of Probiotics in Alleviating Hyperuricemia: Mechanisms, Strain Engineering, and Food Applications

Food Bioengineering, Volume 4, Issue 4, Page 546-563, December 2025.
Screening and modification of probiotics that can efficiently reduce uric acid provide a new strategy for food‐grade hyperuricemia intervention. ABSTRACT Hyperuricemia has become one of the most prevalent global epidemics, significantly impacting both the economy and the health of individuals.
Le Wang, Qi Wu, Mengjia Zhang, Zifu Ni, Pengshuai Zhang, Siyuan Bai, Yibin Wang, Zhongke Sun   +7 more
wiley   +1 more source

Spasmodic Dysphonia

World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 11, Issue 4, Page 548-567, December 2025.
ABSTRACT Spasmodic dysphonia is a laryngeal dystonia that can present as adductor, abductor, or mixed types, with or without tremor. The etiology is not understood fully. Comprehensive evaluation is required to establish the diagnosis. Treatments include voice therapy, medications, botulinum toxin injection, laryngeal surgery, deep brain stimulation ...
Aaron J. Jaworek, Robert T. Sataloff
wiley   +1 more source

Lesch–Nyhan syndrome in a female patient: exploring uncommon symptomatology

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery
Lesch–Nyhan syndrome is a disorder associated with the inadequacy of the hypoxanthine phosphoribosyl-transferase 1 enzyme, which plays a significant role in the purine salvage pathway that leads to urate overproduction and its range of neurological ...
Apeksha Merja, Avinash Khadela, Shruti Soni, Hetvi Bharadia, Vraj B. Shah   +4 more
doaj   +1 more source

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

Allopurinol Treatment Improves Cognitive Skills, Adaptive Behavior, and Biochemical Markers in Young Patients With Adenylosuccinate Lyase Deficiency

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Adenylosuccinate lyase deficiency (ADSLD) is a rare neurological disorder characterized by psychomotor retardation, autistic behaviors, and seizures, with no specific treatment available. ADSL catalyzes the transformation of succinylaminoimidazole carboxamide ribotide (SAICAr) to AICAR, and succinyl‐AMP (S‐AMP) to AMP.
Bérangère Rousselot‐Pailley, Michaela Semeraro, Fabienne Marquant, Laurence Robel, Cyril Gitiaux, Anna Kaminska, Fanny Mochel, Prissile Bakouboula, Caroline Elie, Carole Hennequin, Irène Ceballos‐Picot, Sylvia Sanquer, Pascale de Lonlay   +12 more
wiley   +1 more source

Development and Preliminary Validation of a Parkinsonism‐Dystonia Scale for Infants and Young Children

Movement Disorders, Volume 40, Issue 8, Page 1669-1679, August 2025.
Abstract Background Parkinsonism in infancy is rare and is highly correlated with the presence of dystonia. Advances in treating and characterizing developmental and infantile degenerative parkinsonism have highlighted the need for a specialized assessment scale.
Roser Pons, Toni S. Pearson, Belen Perez‐Dueñas, Angels Garcia‐Cazorla, Manju A. Kurian, Zoi Dalivigka, Vasiliki Zouvelou, Chrysa Outsika, Eleftheria Kokkinou, Maria Sigatullina‐Bondarenko, Alejandra Darling, Maria del Mar O'Callaghan, Robert Spaull, Dora B.D. Steel, Evdokia Salamou, Maria João Forjaz, Carmen Rodriguez‐Blazquez   +16 more
wiley   +1 more source

Characterisation of Challenging Behaviours and Associated Genetic and Neurological Features in Cardiofaciocutaneous Syndrome

Journal of Intellectual Disability Research, Volume 69, Issue 8, Page 682-692, August 2025.
ABSTRACT Background Challenging behaviours such as self‐injury and aggression are prevalent among individuals with intellectual disability (ID), significantly impacting quality of life. Cardiofaciocutaneous syndrome (CFCS), a rare multisystem genetic disorder caused by variants in the BRAF, MAP2K1, MAP2K2, or KRAS genes, commonly presents with ID and ...
Dante J. Rogers, Rebekah L. Hudock, Adele F. Dimian, Josue Collazo‐Lopez, Ryan Shanley, Elizabeth I. Pierpont   +5 more
wiley   +1 more source