Results 101 to 110 of about 72,686 (303)

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Relationship of Serum Vitamin D Levels to the Severity of Migraine

Nigerian Journal of Medicine
Background Most studies done on Vitamin D deficiency in migraine focused more on headache frequency than intensity and severity of the condition. This study is aimed at determining the relationship between serum Vitamin D levels and severity of migraine ...
Simon Izuchukwu Ozomma, Sidney Kelechi Oparah, Mustapha Abudu Danesi, Francis Ibe Ojini, Roosevelt Amaobichukwu Anyanwu   +4 more
doaj   +1 more source

Parkinson's disease biomarkers: perspective from the NINDS Parkinson's Disease Biomarkers Program [PDF]

, 2017
Biomarkers for Parkinson's disease (PD) diagnosis, prognostication and clinical trial cohort selection are an urgent need. While many promising markers have been discovered through the National Institute of Neurological Disorders and Stroke Parkinson's ...
Albin, Roger, Alcalay, Roy N., Babcock, Debra, Bowman, F. DuBois, Chen-Plotkin, Alice, David, Karen K., Dawson, Ted M., Dewey, Richard B., Jr., Foroud, Tatiana, German, Dwight, Gwinn, Katrina, Huang, Xuemei, Lungu, Codrin, Petyuk, Vlad, Potashkin, Judith A., Rosenthal, Liana S., Saunders-Pullman, Rachel, Scherzer, Clemens R., Sieber, Beth-Anne, St Hillaire-Clarke, Coryse, Sutherland, Margaret, Swanson-Fischer, Christine, Vaillancourt, David E., Walt, David R., West, Andrew B., Zhang, Jing   +25 more
core   +1 more source

The Multifaceted Etiology of Mental Disorders With a Focus on Trace Elements, a Review of Recent Literature

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental ...
Maria Francesca Astorino, Marco Calabrò, Carmenrita Infortuna, Maria Rosaria Anna Muscatello, Silvana Briuglia, Nicola Cicero, Chiara Fabbri, Alessandro Serretti, Concetta Crisafulli   +8 more
wiley   +1 more source

2008 Progress Report on Brain Research [PDF]

, 2008
Highlights new research on various disorders, nervous system injuries, neuroethics, neuroimmunology, pain, sense and body function, stem cells and neurogenesis, and thought and memory.
Eve Marder, Mahlon R. DeLong, Michael S. Gazzaniga, Thomas Wichmann   +3 more
core  

Insulin-like growth factors and related proteins in plasma and cerebrospinal fluids of HIV-positive individuals. [PDF]

, 2015
BackgroundClinically significant dysregulation of the insulin-like growth factor (IGF) family proteins occurs in HIV-infected individuals, but the details including whether the deficiencies in IGFs contribute to CNS dysfunction are unknown.MethodsWe ...
Choi, Namjong, Lee, Sunhee C, Letendre, Scott, Lo, Yungtai, Suh, Hyeon-Sook   +4 more
core   +2 more sources

Epstein–Barr Virus, Lower Vitamin D, Low Sun Exposure, and HLA‐DRB1*1501 Risk Variant Share Common Epigenetic Pathways Leading to Multiple Sclerosis Onset

Annals of Neurology, EarlyView.
Objectives Multiple sclerosis (MS) onset risk factors include Epstein–Barr virus (EBV) indices (including host response), lower serum 25‐vitamin D (25(OH)D) levels, low sun exposure, and HLA‐DRB1*1501. The underlying molecular mechanisms are unclear. Here, we examined mediation through differential DNA methylation (DNAm) to better understand possible ...
Steve Simpson‐Yap, Ellen Morwitch, Samuel A. Tanner, Sarah M. Thomson, Alex Eisner, Rod A. Lea, Trevor J. Kilpatrick, Jeannette Lechner‐Scott, Rodney J. Scott, Alexandre Xavier, Vicki E. Maltby, Robyn M. Lucas, Bruce V. Taylor, Brett A. Lidbury, Simon A. Broadley, Ingrid van der Mei, Mehari Woldemariam Merid, Boris Novakovic, Richard Saffery, Anna Karin Hedström, Pernilla Stridh, Tomas Olsson, Maja Jagodic, Lars Alfredsson, Anne‐Louise Ponsonby, for the Ausimmune Investigator Group, Caron Chapman, Alan Coulthard, Keith Dear, Terry Dwyer, Trevor Kilpatrick, Robyn Lucas, Tony McMichael, Anne‐Louise Ponsonby, Bruce Taylor, Patricia Valery, Ingrid van der Mei, David Williams   +37 more
wiley   +1 more source

Mandibular Osteitis Revealing Calcium-Phosphate Imbalance in a Severely Disabled Child: A Case Report [PDF]

Batna Journal of Medical Sciences
Calcium-phosphate metabolism disturbances are common yet often under- recognized in children with severe disabilities. These imbalances can lead to serious bone disorders, including rickets, osteomalacia, and osteomyelitis.
Fouzia BOUNOUA, Djamila Djahida BATOUCHE, Djilali BATOUCHE, Karim HIRECHE   +3 more
doaj   +1 more source

Vitamin D and immunity [PDF]

, 2014
Vitamin D deficiency has been linked to an increased risk of a wide range of adverse health outcomes. The active form of vitamin D has an important role in calcium metabolism and in bone mineralisation, but the evidence for other health outcomes is mixed,
Geldenhuys, Sian, Gorman, Shelley, Hart, Prue, Lucas, Robyn   +3 more
core   +1 more source

Dual Functions of Dietary Rubber Seed Oil Supplementation: Enriching N‐3 Polyunsaturated Fatty Acids and Enhancing Antioxidant Capacity in Pekin Ducks

Animal Research and One Health, EarlyView.
Dietary RSO supplementation improved growth performance, simultaneously enriched n‐3 polyunsaturated fatty acids (n‐3 PUFA), and enhanced antioxidant capacity in Pekin ducks, which suggested that RSO has the potential to be a novel n‐3 PUFA source and an antioxidant for Pekin ducks to generate animal functional foods.
Lei Zhuang, Yongbao Wu, Zitao Zhao, Junting Cao, Yanhong Guo, Zhanyue Wu, Qimeng Wang, Peilong Yang, Sen Wu, Zhiguo Wen, Shuisheng Hou   +10 more
wiley   +1 more source