Results 101 to 110 of about 70,541 (322)

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

Comparison of 25-hydroxy vitamin D serum levels among children with epilepsy in therapy with single versus multiple antiseizure medications

Epilepsy & Behavior Reports, 2023
Objective: Treatment with antiseizure medications (ASMs) for more than 6 months requires monitoring of side effects, one of which is a decreased level of serum vitamin D.
Prastiya Indra Gunawan, Nur Rochmah, Muhammad Faizi   +2 more
doaj  

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  

Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study [PDF]

, 2014
Background: Friedreich's ataxia is a progressive degenerative disorder caused by deficiency of the frataxin protein. Expanded GAA repeats within intron 1 of the frataxin (FXN) gene lead to its heterochromatinisation and transcriptional silencing ...
Athanasopoulos, Stavros, Chan, Ping Kei, Festenstein, Richard, Giunti, Paola, Huson, Les, Law, Pui Pik, Leiper, James, Libri, Vincenzo, Loyse, Naomi, Mauri, Marta, Mohammad, Tariq, Natisvili, Theona, Parkinson, Michael H, Piper, Sophie, Ramesh, Aravind, Tam, Kin Tung, Yandim, Cihangir   +16 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

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

A hepatoprotective experiment on taro vegetable (Colocasia esculenta (L.) Schott) flower employing animal models by mitigating oxidative stress

Animal Models and Experimental Medicine, EarlyView.
The antioxidant efficacy of Colocasia esculenta flower’s methanolic extract was assessed using 2,2′‐azino‐bis‐(3‐ethylbenzothiazoline‐6‐sulfonic) (ABTS) and 2,2‐diphenyl‐1‐picrylhydrazyl (DPPH) scavenging assay. The hepatoprotective effect was investigated by assessing liver injury indicators (amino transferase [ALT], aspartate amino transferase [AST],
Mahathir Mohammad, Fahmida Tasnim Richi, Rabiul Hossain, Md. Arafat, Pair Ahmed Jiko, Nazim Uddin Emon, Sayed Al Hossain Rabbi, Tirtha Khastagir, Md. Hemayet Hossain, Safaet Alam   +9 more
wiley   +1 more source

Prevalence and Predictors of Vitamin D Insufficiency in Children: A Great Britain Population Based Study [PDF]

, 2011
Objectives To evaluate the prevalence and predictors of vitamin D insufficiency (VDI) in children In Great Britain. Design A nationally representative cross-sectional study survey of children (1102) aged 4–18 years (999 white, 570 male) living in ...
BV Taylor, BW Hollis, Carole Cummins, CJ Rosen, Conrad P. Earnest, D Papandreou, Evangeline Wassmer, FL Weng, FR Greer, G Das, HE Hanwell, J Kumar, JH Davies, JLS Gregory, JM Mansbach, JP Reis, KG Moons, LA Houghton, M Misra, Michael Absoud, Ming J. Lim, Nick Shaw, NJ Shaw, S Ashraf, SA Lanham-New, SF Ahmed, SH Pearce, SV Ramagopalan, TJ Cole, TJ Cole, TJ Wang, WB Grant   +31 more
core   +3 more sources

Harnessing the multidimensional bioactivity of Chaetomorpha aerea: Integrative phytochemical profiling with in vitro, in vivo, and in silico insights

Animal Models and Experimental Medicine, EarlyView.
This study revealed the antioxidant, anti‐inflammatory, and antidiabetic potentials of the seaweed Chaetomortpha aerea using in vitro, in vivo, and in silico approaches along with phytochemical analysis using gas chromatography–mass spectrometry. ADME/T analysis was also carried out to confirm drug likeness and toxicity prediction.
Md. Mahmudul Hasan, Md. Abdul Alim, Md. Safayat Hossen Momen, Md. Shahidul Islam, Sajjad Hossen Chowdhury, Mohammad Rashed, Fahmina Hoque, S. M. Moazzem Hossen   +7 more
wiley   +1 more source

Phosphatemia is an Independent Prognostic Factor in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective The objective of this study was to evaluate the prognostic value of several muscle damage biomarkers. Methods Data from Piemonte and Valle d'Aosta Amyotrophic Lateral Sclerosis (PARALS) were considered for this study. Survival was defined as the time from diagnosis to death, tracheostomy, or the censoring date.
Rosario Vasta, Emanuele Koumantakis, Antonio Canosa, Umberto Manera, Maurizio Grassano, Francesca Palumbo, Sara Cabras, Enrico Matteoni, Francesca Di Pede, Filippo De Mattei, Filippo Vergnano, Jessica Mandrioli, Cecilia Simonini, Ilaria Martinelli, Fabiola De Marchi, Letizia Mazzini, Cristina Moglia, Andrea Calvo, Adriano Chiò   +18 more
wiley   +1 more source