1,855 results match your criteria: "Focal Muscular Atrophies"
BMC Musculoskelet Disord
December 2024
Centre for Human and Applied Physiological Sciences, Faculty of Life Sciences and Medicine, King's College London, London, SE1 1UL, UK.
The rise in interest of plant-based protein foods has been meteoric, often leading to calls to adopt exclusively plant-based diets to reduce the intake of animal-based foods. In addition to impacts on human health, moving to an exclusively plant-based (or indeed animal-based) diet may have detrimental implications in terms of environmental sustainability. The impact of a rapid growth in global population on the sustainability of food systems poses clear consequences for the environment and thus warrants careful consideration at a national and, in some cases, global level.
View Article and Find Full Text PDFMol Ther Methods Clin Dev
December 2024
Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, Utrecht, the Netherlands.
The availability of three therapies for the neuromuscular disease spinal muscular atrophy (SMA) highlights the need to match patients to the optimal treatment. Two of these treatments (nusinersen and risdiplam) target splicing of , but treatment outcomes vary from patient to patient. An incomplete understanding of the complex interactions among SMA genetics, SMN protein and mRNA levels, and gene-targeting treatments, limits our ability to explain this variability and identify optimal treatment strategies for individual patients.
View Article and Find Full Text PDFJ Med Econ
December 2025
Novartis Gene Therapies Switzerland GmbH, Rotkreuz, Switzerland.
Aims: Spinal muscular atrophy (SMA) is a rare genetic disorder characterized by progressive muscle weakness, atrophy, respiratory failure, and in severe cases, infantile death. Early detection and treatment before symptom onset may substantially improve outcomes, allowing patients to achieve age-appropriate motor milestones and longer survival. We assessed the cost-utility of newborn screening (NBS) for SMA in Japan.
View Article and Find Full Text PDFNutrients
November 2024
CHRC-Comprehensive Health Research Centre, Universidade de Évora, 7004-516 Évora, Portugal.
Introduction: Leptin and ghrelin are two hormones that play a role in weight homeostasis. Leptin, which is produced primarily by adipocytes and is dependent on body fat mass, suppresses appetite and increases energy expenditure. Conversely, ghrelin is the "hunger hormone", it stimulates appetite and promotes fat storage.
View Article and Find Full Text PDFInt J Mol Sci
November 2024
Department of Basic Medical Sciences, Institute of Biomedical Technologies (ITB), Universidad de La Laguna, 38200 San Cristobal de la Laguna, Spain.
Spinal muscular atrophy (SMA) is caused by a deficiency of the ubiquitously expressed survival motor neuron (SMN) protein. The main pathological hallmark of SMA is the degeneration of lower motor neurons (MNs) with subsequent denervation and atrophy of skeletal muscle. However, increasing evidence indicates that low SMN levels not only are detrimental to the central nervous system (CNS) but also directly affect other peripheral tissues and organs, including skeletal muscle.
View Article and Find Full Text PDFMed Sci Monit
November 2024
Department of Medical Oncology, Antalya Training and Research Hospital, Antalya, Turkey.
BACKGROUND Sarcopenia, characterized by loss of skeletal muscle mass and function, is linked to poor outcomes in cancer patients. In breast cancer, sarcopenia has been associated with reduced treatment tolerance and survival. However, its impact on patients with locally advanced breast cancer receiving neoadjuvant chemotherapy is understudied.
View Article and Find Full Text PDFJ R Coll Physicians Edinb
December 2024
Department of Clinical Immunology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India.
J Med Internet Res
November 2024
Graduate Institute of Integrated Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan.
Background: Researchers have developed a variety of indices to assess frailty. Recent research indicates that the human voice reflects frailty status. Frailty phenotypes are seldom discussed in the literature on the aging voice.
View Article and Find Full Text PDFFront RNA Res
September 2024
Integrative Program for Biological and Genome Sciences, University of North Carolina, Chapel Hill, NC, United States.
Introduction: Molecular chaperones and co-chaperones are highly conserved cellular components that perform a variety of duties related to the proper three-dimensional folding of the proteome. The web of factors that carries out this essential task is called the proteostasis network (PN). Ribonucleoproteins (RNPs) represent an underexplored area in terms of the connections they make with the PN.
View Article and Find Full Text PDFCell Rep
November 2024
Department of Pediatrics, Darby Children's Research Institute, Medical University of South Carolina, Charleston, SC 29425, USA; Hollings Cancer Center, Medical University of South Carolina, Charleston, SC 29425, USA. Electronic address:
Although cancer cachexia is classically characterized as a systemic inflammatory disorder, emerging evidence indicates that weight loss also associates with local tissue inflammation. We queried the regulation of this inflammation and its causality to cachexia by exploring skeletal muscle, whose atrophy strongly associates with poor outcomes. Using multiple mouse models and patient samples, we show that cachectic muscle is marked by enhanced innate immunity.
View Article and Find Full Text PDFMedicina (Kaunas)
October 2024
Department of Oncological Surgery and Gynecological Oncology, Iuliu Hatieganu University of Medicine and Pharmacy, 8 Victor Babes Street, 400012 Cluj-Napoca, Romania.
: Sarcopenia, a condition characterized by muscle mass loss, is prevalent in up to 68% of rectal cancer patients and has been described as a negative prognostic factor, impacting overall survival and tumor response. While there are extensive data on rectal cancer globally, only a handful of studies have evaluated the role of sarcopenia in locally advanced rectal cancer (LARC). Our study aimed to investigate the relationship between sarcopenia, overall response rate, and toxicity in patients who underwent total neoadjuvant treatment (TNT) for LARC.
View Article and Find Full Text PDFNutrients
October 2024
Faculty of Medicine, Nutrition and Dietetics School, Universidad Finis Terrae, Pedro de Valdivia 1509, Providencia, Santiago 7501015, Chile.
Background And Objective: The global aging population has led to increased noncommunicable diseases, often linked to poor diet and declining muscle strength and mass. This study assessed leucine intake and sarcopenia indicators among 181 adults aged 60-80 in Santiago, Chile, participating in the Program for Complementary Food in Older People (PACAM), with 80% being women.
Methods: Sarcopenia was evaluated through muscle strength and mass using the EWGSOP2 criteria for its identification.
J Hand Surg Glob Online
September 2024
Department of Orthopaedic Surgery, Washington University School of Medicine, St. Louis, MO.
Aust J Gen Pract
October 2024
PhD, FRACP, FRCP, MBBS, LTCL, Associate Professor, Adelaide Geriatrics Training and Research with Aged Care Centre, School of Medicine, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA; Associate Professor, Aged and Extended Care Services, The Queen Elizabeth Hospital, Central Adelaide Local Health Network, Adelaide, SA; President, Australian and New Zealand Society for Sarcopenia and Frailty Research, Adelaide, SA.
Background: An estimated one in five Australians aged 60 years and older have sarcopenia, marked by progressive and accelerated loss in muscle mass, strength and function. Sarcopenia is associated with considerable healthcare costs and a myriad of adverse health outcomes, including increased risk of death. Despite its clinical importance, muscle health is often overlooked in routine clinical practice, hindering diagnosis and treatment.
View Article and Find Full Text PDFAuris Nasus Larynx
October 2024
Department of Otolaryngology-Head-Neck Surgery, Iwate Medical University School of Medicine, 2-1-1 Idai dori, Yahaba, Iwate 028-3695, Japan. Electronic address:
J Cachexia Sarcopenia Muscle
December 2024
School of Allied Health, Human Services and Sport, Discipline of Physiotherapy, La Trobe University, Melbourne, Australia.
Background: Hip-related pain (HRP) affects young to middle-aged active adults and impacts physical activity, finances and quality of life. HRP includes conditions like femoroacetabular impingement syndrome and labral tears. Lateral hip muscle dysfunction and atrophy in HRP are more pronounced in advanced hip pathology, with limited evidence in younger populations.
View Article and Find Full Text PDFNutr Clin Pract
December 2024
Department of Clinical Nutrition, Department of Health Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Background: This study investigated the prevalence of sarcopenic obesity (SO) among older adults in Chinese communities and its association with chronic diseases.
Methods: We conducted a post-hoc analysis of a 2014-2015 multicenter cross-sectional study involving adults aged ≥60 years from three representative cities in China. The Asian Working Group for Sarcopenia diagnostic criteria and Chinese local cutoffs were employed to define SO.
Eur Geriatr Med
December 2024
Geriatrics Unit, Department of Clinical & Experimental Medicine, University Hospital of Pisa, Pisa, Italy.
Purpose: Sarcopenia is a potentially reversible syndrome that increases the risk of cardiogenic cachexia and adverse outcomes in older patients with heart failure (HF). Despite its clinical significance, sarcopenia remains underdiagnosed due to the complexities of comprehensive assessment in patients with acute HF. This study aimed to evaluate whether the SARC-F questionnaire, its inviduals components, and the handgrip strength test (HGS) can predict short-term prognostic risk in very old patients recently discharged after acute HF.
View Article and Find Full Text PDFHernia
December 2024
General and Digestive Surgery Department, University Hospital Henares, Coslada, Spain.
Background: Sarcopenia is defined as the loss of skeletal muscle mass and is associated with an increased risk or morbidity and mortality in complex surgical patient populations. Its role in complex abdominal wall surgery (AWS) is yet to be determined. The aim of this study is to establish if sarcopenia has an impact on postoperative complications, mortality and hernia recurrence.
View Article and Find Full Text PDFSpinal Muscular Atrophy (SMA) is a neuromuscular disease caused by low levels of the Survival of Motoneuron (SMN) protein. SMN interacts with and regulates the actin-binding protein profilin2a, thereby influencing actin dynamics. Dysfunctional actin dynamics caused by SMN loss disrupts neurite outgrowth, axonal pathfinding, and formation of functional synapses in neurons.
View Article and Find Full Text PDFBone
December 2024
Department of Orthopaedic Surgery, Kobe University Graduate School of Medicine, Japan. Electronic address:
We previously demonstrated that transcutaneous CO application promotes muscle fiber-type switching, fracture healing, and osteogenesis by increasing blood flow and angiogenesis. Here, we aimed to investigate the preventive effects of transcutaneous CO application on disuse osteoporosis and muscle atrophy in a rat hindlimb suspension model. Eleven-week-old male Sprague-Dawley rats were divided into hindlimb suspension (HS), HS with transcutaneous CO application (HSCO), and control groups.
View Article and Find Full Text PDFAging Cell
October 2024
Department of Animal and Marine Bioresource Sciences, Graduate School of Agriculture, Kyushu University, Fukuoka, Japan.
Radiology
September 2024
From the Translational Imaging in Neurology (ThINk), Department of Biomedical Engineering (M.J.W., E.K., L.S., M. Weigel, C.G., R.S.), Research Center for Clinical Neuroimmunology and Neuroscience Basel (RC2NB) (M.J.W., E.K., L.S., M. Weigel, C.G., R.S.), Department of Biomedical Engineering (M. Weigel, C.W., O.B.), Institute of Forensic Medicine, Department of Biomedical Engineering (D.N., E.S., C.L.), and Department of Biomedicine (M.S.), University of Basel, Basel, Switzerland; Neurology Clinic and Policlinic, Department of Clinical Research (E.K., L.S., M. Weigel, M.D., N.N., C.G., K.S., M.S., R.S.), Division of Radiological Physics, Department of Radiology (M. Weigel, C.W., T.H., P.M., O.B.), Department of Pathology, Institute of Medical Genetics and Pathology (N.D.), and Department of Theragnostics, Clinic of Radiology and Nuclear Medicine, Division of Diagnostic and Interventional Neuroradiology (J.L.), and Department of Neurology (R.S.), University Hospital Basel, University of Basel, Petersgraben 4, 4031 Basel, Switzerland; Institute of Neuropathology, Neurocenter, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany (M.D.); Institute of Forensic Medicine, Health Department Basel-Stadt, Basel, Switzerland (D.N., E.S., C.L.); and Neuromuscular Diseases Unit/ALS Clinic, Kantonsspital St Gallen, St Gallen, Switzerland (C.N., N.B., M. Weber).
Background Radially sampled averaged magnetization inversion-recovery acquisition (rAMIRA) imaging shows hyperintensity in the lateral corticospinal tract (CST) in patients with motor neuron diseases. Purpose To systematically determine the accuracy of the lateral corticospinal tract sign for detecting patients with amyotrophic lateral sclerosis (ALS) at rAMIRA MRI. Materials and Methods This study included prospectively acquired data from participants in ALS and other motor neuron disease imaging studies at the University Hospital Basel, Switzerland.
View Article and Find Full Text PDFBMC Infect Dis
September 2024
Department of Tropical Medicine, Medical Sciences Center, Federal University of Pernambuco, Avenida Prof. Moraes Rego, 1235, Cidade Universitária, Recife, PE, CEP: 50740-465, Brasil.
Background: The use of antiretrovirals has increased the survival of People Living with HIV/AIDS (PLWHA), resulting in an aging population and a rise in the incidence of sarcopenia. The lack of uniformity among the prevalences found in studies may be associated with the use of different diagnostic criteria, highlighting the need for local studies to determine the prevalence of sarcopenia.
Methods: Cross-sectional study to estimate the prevalence and associated factors of sarcopenia using the revised criteria of the European Working Group on Sarcopenia in Older People (EWGSOP2).
Front Mol Neurosci
August 2024
Institute of Clinical Neurobiology, University Hospital Würzburg, Würzburg, Germany.
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by mutations or deletions in the survival motoneuron 1 () gene, resulting in deficiency of the SMN protein that is essential for motoneuron function. Smn depletion in mice disturbs axonal RNA transport and translation, thereby contributing to axon growth impairment, muscle denervation, and motoneuron degeneration. However, the mechanisms whereby Smn loss causes axonal defects remain unclear.
View Article and Find Full Text PDF