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JOURNAL ARTICLE
Adela Della Marina, Andreas Hentschel, Artur Czech, Ulrike Schara-Schmidt, Corinna Preusse, Andreas Laner, Angela Abicht, Tobias Ruck, Joachim Weis, Catherine Choueiri, Hanns Lochmüller, Heike Kölbel, Andreas Roos
BACKGROUND: NEFL encodes for the neurofilament light chain protein. Pathogenic variants in NEFL cause demyelinating, axonal and intermediate forms of Charcot-Marie-Tooth disease (CMT) which present with a varying degree of severity and somatic mutations have not been described yet. Currently, 34 different CMT-causing pathogenic variants in NEFL in 174 patients have been reported. Muscular involvement was also described in CMT2E patients mostly as a secondary effect. Also, there are a few descriptions of a primary muscle vulnerability upon pathogenic NEFL variants...
April 3, 2024: Journal of Neuromuscular Diseases
#2
JOURNAL ARTICLE
Kavadisseril Vivekanandan Vysakha, Vineeth Radhakrishnan, Praveen James, B Suresh Kumar, Ashish Anand Susvirkar, Gangadhara Sarma, Ajith Cherian, K P Divya, Syam Krishnan Nair, Asha Kishore
BACKGROUND: Writer's cramp is a task-specific focal hand dystonia, which is diagnosed clinically. Quantification of defect in WC is done using clinical scales, while digitized platforms are lacking. OBJECTIVE: To design and test a platform that can differentiate and quantify the abnormal kinematics of writing using a software interface and to validate it in adult-onset isolated writer's cramp (WC). METHODS: A native platform was designed using Java and Wacom Intuos pro tablet and the data analyzed using a MATLAB-based platform called Large Data-Based Evaluation of Kinematics in Handwriting (LEKH)...
April 4, 2024: Acta Neurologica Belgica
#3
JOURNAL ARTICLE
Sara Traserra, Luis Gerardo Alcalá-González, Claudia Barber, Stefania Landolfi, Carolina Malagelada, Robert Lange, Sylvie Forestier, Maura Corsetti, Marcel Jimenez
INTRODUCTION: Hyoscine butylbromide (HBB) is one of the most used antispasmodics in clinical practice. Recent translational consensus has demonstrated a similarity between human colonic motor patterns studied ex vivo and in vivo, suggesting ex vivo can predict in vivo results. It is unclear whether the mechanism of action of antispasmodics can predict different use in clinical practice. The aim of the present study is to bridge this gap dissecting HBB's role in excitatory and inhibitory neural pathways...
April 1, 2024: European Journal of Pharmacology
#4
JOURNAL ARTICLE
Sandra Donkervoort, Martijn van de Locht, Dario Ronchi, Janine Reunert, Catriona A McLean, Maha Zaki, Rotem Orbach, Josine M de Winter, Stefan Conijn, Daan Hoomoedt, Osorio Lopes Abath Neto, Francesca Magri, Angela N Viaene, A Reghan Foley, Svetlana Gorokhova, Véronique Bolduc, Ying Hu, Nicole Acquaye, Laura Napoli, Julien H Park, Kalyan Immadisetty, Lee B Miles, Mona Essawi, Salar McModie, Leonardo F Ferreira, Simona Zanotti, Sarah B Neuhaus, Livija Medne, Nagham ElBagoury, Kory R Johnson, Yong Zhang, Nigel G Laing, Mark R Davis, Robert J Bryson-Richardson, Darren T Hwee, James J Hartman, Fady I Malik, Peter M Kekenes-Huskey, Giacomo Pietro Comi, Wessam Sharaf-Eldin, Thorsten Marquardt, Gianina Ravenscroft, Carsten G Bönnemann, Coen A C Ottenheijm
Troponin I (TnI) regulates thin filament activation and muscle contraction. Two isoforms, TnI-fast ( TNNI2 ) and TnI-slow ( TNNI1 ), are predominantly expressed in fast- and slow-twitch myofibers, respectively. TNNI2 variants are a rare cause of arthrogryposis, whereas TNNI1 variants have not been conclusively established to cause skeletal myopathy. We identified recessive loss-of-function TNNI1 variants as well as dominant gain-of-function TNNI1 variants as a cause of muscle disease, each with distinct physiological consequences and disease mechanisms...
April 3, 2024: Science Translational Medicine
#5
JOURNAL ARTICLE
Merve Kurt-Aydin, Dilan Savaş-Kalender, Tülay Tarsuslu, Uluç Yis
INTRODUCTION/AIMS: The utilization of virtual reality (VR) and biofeedback training, while effective in diverse populations, remains limited in the treatment of Duchenne and Becker muscular dystrophies (D/BMD). This study aimed to determine the feasibility of VR in children with D/BMD and compare the effectiveness of VR and biofeedback in children with D/BMD. METHODS: The study included 25 children with D/BMD. Eight children in the control group participated in a routine follow-up rehabilitation program, while the remaining children were randomly assigned to the VR (n = 9) and biofeedback (n = 8) groups for a 12-week intervention...
April 1, 2024: Muscle & Nerve
#6
JOURNAL ARTICLE
Arrti A Bhasin, Jennifer M MacRae, Braden Manns, Kelvin C W Leung, Amber O Molnar, Jason W Busse, David Collister, K Scott Brimble, Christian G Rabbat, Jessica Tyrwhitt, Andrea Mazzetti, Michael Walsh
BACKGROUND: Individuals receiving hemodialysis often experience concurrent symptoms during treatment and frequently report feeling unwell after dialysis. The degree to which intradialytic symptoms are related, and which specific symptoms may impair health-related quality of life (HRQoL) is uncertain. OBJECTIVES: To explore intradialytic symptoms clusters, and the relationship between intradialytic symptom clusters with dialysis treatment recovery time and HRQoL...
2024: Canadian Journal of Kidney Health and Disease
#7
JOURNAL ARTICLE
Kornchanok Sangprasat, Christine Joy I Bulaon, Kaewta Rattanapisit, Theerakarn Srisangsung, Perawat Jirarojwattana, Apidsada Wongwatanasin, Waranyoo Phoolcharoen
Botulism is a fatal neurologic disease caused by the botulinum toxin (BoNT) produced by Clostridium botulinum . It is a rare but highly toxic disease with symptoms, such as cramps, nausea, vomiting, diarrhea, dysphagia, respiratory failure, muscle weakness, and even death. Currently, two types of antitoxin are used: equine-derived heptavalent antitoxin and human-derived immunoglobulin (BabyBIG®). However, heptavalent treatment may result in hypersensitivity, whereas BabyBIG®, has a low yield. The present study focused on the development of three anti-BoNT monoclonal antibodies (mAbs), 1B18, C25, and M2, in Nicotiana benthamiana ...
December 31, 2024: Human Vaccines & Immunotherapeutics
#8
REVIEW
Vincenzo Pota, Pasquale Sansone, Sara De Sarno, Caterina Aurilio, Francesco Coppolino, Manlio Barbarisi, Francesco Barbato, Marco Fiore, Gianluigi Cosenza, Maria Beatrice Passavanti, Maria Caterina Pace
Amyotrophic lateral sclerosis (ALS) is the most frequent neurodegenerative disease of the motor system that affects upper and lower motor neurons, leading to progressive muscle weakness, spasticity, atrophy, and respiratory failure, with a life expectancy of 2-5 years after symptom onset. In addition to motor symptoms, patients with ALS have a multitude of nonmotor symptoms; in fact, it is currently considered a multisystem disease. The purpose of our narrative review is to evaluate the different types of pain, the correlation between pain and the disease's stages, the pain assessment tools in ALS patients, and the available therapies focusing above all on the benefits of cannabis use...
2024: Behavioural Neurology
#9
Sabitha Sasidharan Pillai, Kate Millington
BACKGROUND/OBJECTIVE: Type 1 diabetes (T1D) and myasthenia gravis (MG) are autoimmune conditions that rarely co-occur. Here, we report a child with MG who subsequently developed T1D. CASE REPORT: An 11-year-old girl with seropositive MG diagnosed at 4 years of age presented with muscle pain, cramps, and weight loss of 3.5 kg over 4 months. Her MG was in remission on daily pyridostigmine. She denied polyuria, polydipsia, recent illnesses, or other medications...
2024: AACE Clinical Case Reports
#10
Karim Kheir, Omar Al Jassem, Georgio El Koubayati, Fady Haddad
Proton pump inhibitors (PPIs) are frequently used medications to treat a wide variety of gastrointestinal conditions. By irreversibly inhibiting the hydrogen-potassium ATPase pump, they remarkably reduce gastric acid secretion. However, chronic PPI intake can result in serious complications, including severe hypomagnesemia. The following case report presents a severe case of refractory PPI-induced hypomagnesemia (PPIH), resistant to continuous oral and intravenous magnesium replacement, in a 70-year-old male patient, with a long history of PPI use due to persistent epigastric pain...
February 2024: Curēus
#11
JOURNAL ARTICLE
Garyfallia Papaioannou, Michael Mannstadt
A 38-year-old woman with chronic non-surgical hypoparathyroidism, managed elsewhere, presented to our practice with symptomatic hypocalcemia. At the age of 17, she began to suffer from muscle cramps, paresthesia, and ongoing diffuse pain. It took years before she was correctly diagnosed with hypoparathyroidism. Her symptoms were severe enough that she required emergency room (ER) visits several times a year. After she was properly diagnosed and started on calcium and calcitriol therapy, she continued to experience frequent episodes of severe hypocalcemia...
March 19, 2024: Journal of Bone and Mineral Research
#12
REVIEW
Eva Rudjord Therkildsen, Pernille Kaster, Jens Bo Nielsen
BACKGROUND: Muscle cramps are typically regarded as benign muscle overactivity in healthy individuals, whereas spasms are linked to spasticity resulting from central motor lesions. However, their striking similarities made us hypothesize that cramping is an under-recognized and potentially misidentified aspect of spasticity. METHODS: A systematic search on spasms and cramps in patients with Upper Motor Neuron Disorder (spinal cord injury, cerebral palsy, traumatic brain injury, and stroke) was carried out in Embase/Medline, aiming to describe the definitions, characteristics, and measures of spasms and cramps that are used in the scientific literature...
2024: Frontiers in Neurology
#13
JOURNAL ARTICLE
João Pedro Barros, João Almeida Fonseca, Rui Pinto, Jorge Pratas, Ricardo João Cruz Correia
BACKGROUND: Patients with end-stage renal disease (ESRD) undergoing haemodialysis (HD) are associated with low quality of life (QoL) and high disease-related symptoms. The patient self-report instruments can assess the burden of physical and psychological symptoms. The Dialysis Symptom Index (DSI) is a specific instrument to evaluate the multidimensional reported symptoms by patients undergoing HD. AIMS: To translate, validate and assess the psychometric properties of the Portuguese version of the DSI...
February 2024: Journal of Research in Nursing: JRN
#14
JOURNAL ARTICLE
Helen Devine, Matthew Solomons, Luca Zampedri, Michael G Hanna, Carlo Rinaldi, Pietro Fratta, Dipa Jayaseelan
A 57-year-old man developed worsening early morning headaches, muscle cramps and falls over 12 months. He had widespread fasciculation and was diagnosed with motor neurone disease, and treated with nocturnal hypoventilation. Based on this diagnosis, he made significant personal and financial decisions including retiring and selling his house. He subsequently developed a lump in his right breast and was found to have gynaecomastia. This triggered genetic testing for Kennedy's disease leading to the correct diagnosis...
March 14, 2024: Practical Neurology
#15
JOURNAL ARTICLE
Ben Thrower, Scott D Newsome, Barry Hendin, Sherry Danese, Jenifer Patterson, Robert Chinnapongse
BACKGROUND: The experience with spasticity varies among individuals with multiple sclerosis and spasticity (MSS), as they may not recognize it as spasticity or have the language to describe their symptoms. This can lead to potential delays in diagnosis and treatment. METHODS: Symptoms and Emotions Exploration Needed in Multiple Sclerosis Spasticity was an online survey completed by 1177 individuals with MSS in 2021. It sought to capture symptoms of spasticity, variability of symptoms, specific spasticity triggers, and how conversations with physicians were initiated...
2024: International Journal of MS Care
#16
JOURNAL ARTICLE
Philip Van Damme, Ammar Al-Chalabi, Peter M Andersen, Adriano Chiò, Philippe Couratier, Mamede De Carvalho, Orla Hardiman, Magdalena Kuźma-Kozakiewicz, Albert Ludolph, Christopher J McDermott, Jesus S Mora, Susanne Petri, Katrin Probyn, Evy Reviers, François Salachas, Vincenzo Silani, Ole-Bjørn Tysnes, Leonard H van den Berg, Gemma Villanueva, Markus Weber
BACKGROUND: This update of the guideline on the management of amyotrophic lateral sclerosis (ALS) was commissioned by the European Academy of Neurology (EAN) and prepared in collaboration with the European Reference Network for Neuromuscular Diseases (ERN EURO-NMD) and the support of the European Network for the Cure ALS (ENCALS) and the European Organization for Professionals and Patients with ALS (EUpALS). METHODS: Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology was used to assess the effectiveness of interventions for ALS...
March 12, 2024: European Journal of Neurology
#17
JOURNAL ARTICLE
Alexander d'Elia, Aliaksandra Baranskaya, Shamil Haroon, Ben Hammond, Nicola J Adderley, Krishnarajah Nirantharakumar, Joht Singh Chandan, Marie Falahee, Karim Raza
OBJECTIVES: To assess whether prodromal symptoms of rheumatoid arthritis (RA), as recorded in the Clinical Practice Research Datalink Aurum (CPRD) database of English primary care records, differ by ethnicity and socioeconomic status. METHODS: A cross-sectional study to determine the coding of common symptoms (≥0.1% in the sample) in the 24 months preceding RA diagnosis in CPRD Aurum, recorded between January 1st 2004 to May 1st 2022. Eligible cases were adults with a code for RA diagnosis...
March 11, 2024: Rheumatology
#18
JOURNAL ARTICLE
Carolyn A Young, Amina Chaouch, Christopher J Mcdermott, Ammar Al-Chalabi, Suresh K Chhetri, Kevin Talbot, Timothy Harrower, Richard W Orrell, Joe Annadale, Oliver C Hanemann, Antonio Scalfari, Alan Tennant, Roger Mills
Objective : Dyspnea, or breathlessness, is an important symptom in amyotrophic lateral sclerosis/motor neuron disease (ALS/MND). We examined the measurement properties of the Dyspnea-12. Methods : Rasch analysis enabled conversion of raw Dyspnea-12 scores to interval level metric equivalents. Converted data were used to perform trajectory modeling; those following different trajectories were compared for demographic, clinical, symptom, and functioning characteristics. Logistic regression examined differences between distinct trajectories...
March 11, 2024: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
#19
JOURNAL ARTICLE
Ping Wu, Chi Keung Chan, Oi Fung Wong
BACKGROUND: Literature on systemic envenomation caused by tarantula bites, particularly from the Theraphosidae family, is relatively scarce. This case report provides a formal description of the first known instance of systemic envenomation caused by the Socotra Island Blue Baboon Tarantula (Monocentropus balfouri). CASE REPORT: In this case, a 23-year-old employee of an exotic pet shop suffered from perioral paresthesia, generalized muscle cramps, and rhabdomyolysis because of a Monocentropus balfouri bite...
December 14, 2023: Journal of Emergency Medicine
#20
JOURNAL ARTICLE
Hendra Zufry, Maulina Debbyousha, Sarah Firdausa, Agustia S Ekadamayanti, Krishna W Sucipto, Julia Sari
Hypocalcemia and transient ischemic attack (TIA) are different medical disorders; however, limited evidence suggests a possible link between the two. The underlying pathomechanisms by which hypocalcemia may cause cerebrovascular damage are difficult to comprehend. The aim of the study was to present an individual experiencing TIA that possibly due to severe hypocalcemia that associated with hypoparathyroidism after total thyroidectomy; and to explore the available evidence of its cause-effect relationship through available literature...
August 2023: Narra J
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