Results 51 to 60 of about 41,875 (254)

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

A scoping review on muscle cramps and spasms in upper motor neuron disorder–two sides of the same coin?

Frontiers in Neurology
BackgroundMuscle cramps are typically regarded as benign muscle overactivity in healthy individuals, whereas spasms are linked to spasticity resulting from central motor lesions.
Eva Rudjord Therkildsen, Pernille Kaster, Jens Bo Nielsen   +2 more
doaj   +1 more source

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro, Mackenzie Silverman, Maeve C. Lucas, Mariam M. Yousuf, Samuel T. Otey, Stella V. Gray, Brittany Jordan, Madeline D. Kahan, Latanya D. Agurs, Michelle Van Hirtum Das, Deborah Holder, Devin King, Eileen A. Quinn, Ryan Kammeyer, Michael S. Rafii   +14 more
wiley   +1 more source

The Multiple Sclerosis Severity Allele rs10191329A and Cognitive Function: A UK Biobank Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The genome‐wide association study of Multiple Sclerosis severity linked the genetic variant rs10191329A to long‐term disability and implicated brain resilience as a determinant of outcome. We hypothesised that rs10191329A might influence cognition in other neurological diseases and healthy controls.
Ioanna Zimianiti, Sheena Waters, Adil Harroud, Pernilla Stridh, Ruth Dobson, Benjamin M. Jacobs   +5 more
wiley   +1 more source

Comparative Study of Calcium efficacy and placebo on leg muscle cramps during pregnancy in patients referred to clinics supervised by Bushehr University of Medical Sciences

Iranian South Medical Journal, 2011
Background: Muscle cramps are common complains during pregnancy muscle cramps occur mostly during nights causing sleep disorder. The causes of muscle cramps are unknown.
Rozita Khoramroudi, Azita Norouzi, Tayebeh Jamand, Rahim Tahmasebi, Sherafat Akaberian, Ali Hefzollah   +5 more
doaj  

A Patient Developed Painful Muscle Cramps due to Overeating Mangos

Case Reports in Neurological Medicine, 2012
A 79-year-old woman had a habit to eat a mango every night before sleep and experienced muscle cramps during sleep. Her muscle cramps may be resulted from potassium overload due to overeating mangos.
Kazuo Abe
doaj   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Effect of L-carnitine supplementation on muscle cramps in liver cirrhosis: results from a retrospective cohort study

BMC Gastroenterology
Background Muscle cramps are among the common debilitating complications of liver cirrhosis. Since this complication lacks effective treatments, we aimed to evaluate the effectiveness of L-carnitine supplementation in reducing the frequency, duration ...
Gholam Reza Sivandzadeh, Ali Shahsavari, Elahe Meftah, Ramin Niknam, Ali Reza Safarpour   +4 more
doaj   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Biopsychosocial Determinants of Hand Function and Its Trajectories Over Five Years in Patients With Hand Osteoarthritis

Arthritis Care &Research, EarlyView.
Objective This study aimed to investigate hand function trajectories over five years in primary hand osteoarthritis (OA). Additionally, determinants of baseline and longitudinal hand function were assessed. Methods A total of 538 patients with both baseline and five‐year study visits were analyzed.
Annemiek V. E. M. Olde Meule, Coen van der Meulen, Jos Runhaar, Frits R. Rosendaal, Margreet Kloppenburg   +4 more
wiley   +1 more source