Results 51 to 60 of about 506,491 (309)

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

DHCR7 mutations linked to higher vitamin D status allowed early human migration to Northern latitudes [PDF]

, 2013
Vitamin D is essential for a wide range of physiological processes including immune function and calcium homeostasis. Recent investigations have identified candidate genes which are strongly linked to concentrations of 25-hydroxyvitamin D. Since there is
Robert Walton, Hyppönen, E., Walton, Robert T., Kuan, V, Valerie Kuan, Griffiths, C. J., Martineau, AR, Hyppoenen, E, Hyppönen, E, Elina Hyppönen, Martineau, A. R., Walton, R, Griffiths, CJ, Adrian R Martineau, Kuan, V., Chris J Griffiths   +15 more
core   +1 more source

Relationships between low serum vitamin D levels and HBV “a” determinant mutations in chronic hepatitis B patients

Journal of Infection in Developing Countries, 2016
Introduction: Vitamin D is significantly associated with virus replication in chronic hepatitis B virus (HBV) infection. However, the relationship between low serum vitamin D levels and HBV “a” determinant mutations remains unknown. Methodology: A total
Huijuan Zhu, Xingxiang Liu, Yi Ding, Hui Zhou, Yiying Wang, Zhiwei Zhou, Xinxin Li, Zengli Zhang, Chen Dong   +8 more
doaj   +1 more source

MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru, Akansha Chandrasekar, Kyla Blasingame, Jonathan Rosen, Jesse M. Levine, Karla Salazar, Madhuri Chilakapati, Rod Foroozan, Victoria Hardwick, Jonathan M. Yarimi, Nikita Shukla, Timothy E. Lotze, Kristen S. Fisher, Alexander J. Sandweiss   +13 more
wiley   +1 more source

Carotenoid content of pandanus fruit cultivars and other foods of the Republic of Kiribati

, 2006
Background: Kiribati, a remote atoll island country of the Pacific, has serious problems of vitamin A deficiency (VAD). Thus, it is important to identify locally grown acceptable foods that might be promoted to alleviate this problem.
Dolodolotawake, U, Kaiririete, M, Dolodolotawake, U., Rimon, B, Englberger, L., Luta, T., Marks, G., Schierle, J, Fitzgerald, M., Rimon, B., Schierle, J., Fitzgerald, MH, Aalbersberg, W., Kaiririete, M., Humphries, J., Humphries, J, Iuta, T, Aalbersberg, W, Marks, GC, Englberger, L   +19 more
core   +1 more source

Vitamin D supplementation and breast cancer prevention : a systematic review and meta-analysis of randomized clinical trials [PDF]

, 2013
In recent years, the scientific evidence linking vitamin D status or supplementation to breast cancer has grown notably. To investigate the role of vitamin D supplementation on breast cancer incidence, we conducted a systematic review and meta-analysis ...
Nancy Santesso (435397), Pizzuti, Laura, Pizzuti, L, Montella, Maurizio, Nancy Santesso, Santesso Nancy, Patrizia Vici (85361), Santesso, Nancy, Barba, Maddalena, Anna Crispo (435403), Mariani, Luciano, Barba M., Maugeri-Saccà, Marcello, Maddalena Barba, Montella Maurizio, Laura Pizzuti, Mottolese Marcella, Sergi D., Patrizia Vici, Domenico Sergi, Francesca Sperati, Stranges, Saverio, Luigi Di Lauro (435401), Vici Patrizia, Luciano Mariani (435398), Antonio Giordano, Barba Maddalena, Montella, M, Marcella Mottolese (85368), Sperati, Francesca, Francesca Sperati (95245), Mottolese M., Sperati Francesca, Saverio Stranges, Mariani L., Crispo, A, Di Lauro, L, Laura Pizzuti (435400), Pizzuti L., Saverio Stranges (73786), Marcella Mottolese, Giordano, A, Pizzuti Laura, Crispo A., Marcello Maugeri-Saccà, Barba, M, Maugeri-Saccà Marcello, Stranges, S, Santesso N., Di Lauro, Luigi, Stranges S., Maurizio Montella, Marcello Maugeri-Saccà (435396), Antonio Giordano (55096), Vici P., Sperati, F, Di Lauro Luigi, Sergi, D, Sergi, Domenico, Santesso, N, Mariani, L, Luigi Di Lauro, Giordano, Antonio, MD, Giordano A., Mottolese, M, Giordano, Antonio|, Stranges Saverio, Di Lauro L., Mottolese, Marcella, Maddalena Barba (82927), Sergi Domenico, Crispo Anna, Luciano Mariani, Maurizio Montella (435402), Sperati F., Giordano Antonio, Vici, P, Montella M., Crispo, Anna, Maugeri-Saccà, M, Vici, Patrizia, Mariani Luciano, Anna Crispo, Domenico Sergi (435399), Maugeri-Sacca M.   +84 more
core   +1 more source

Vitamin B Deficiency Does not Affect the Liver Concentrations of the Other Seven Kinds of B-Group Vitamins in Rats

Nutrition and Metabolic Insights, 2013
We aimed to determine the effects of vitamin B 1 deficiency on vitamin contents of urine, liver, and blood. In the current study, rats were divided into 3 groups (n = 5, each group): the first was freely fed a complete diet (ad lib-fed control group ...
Katsumi Shibata, Atsushi Shimizu, Tsutomu Fukuwatari   +2 more
doaj   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

The Role of Vitamin B in the Management and Optimization of Treatment in Patients With Degenerative Cervical Myelopathy

Global Spine Journal, 2019
Study Design: Narrative review. Objectives: To discuss the relationship between degenerative cervical myelopathy (DCM) and vitamin B 12 deficiency. Specifically, it is the aim to outline the rational for future research into assessment and therapeutic ...
Aria Nouri MD, MSc, Kishan Patel BA, Julio Montejo BA, Rani Nasser MD, David A. Gimbel MD, Daniel M. Sciubba MD, Joseph S. Cheng MD, MS, FAANS, FACS   +6 more
doaj   +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source