1,855 results match your criteria: "Focal Muscular Atrophies"

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.

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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.

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Cost-utility analysis of newborn screening for spinal muscular atrophy in Japan.

J 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.

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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.

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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.

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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.

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Identifying and Estimating Frailty Phenotypes by Vocal Biomarkers: Cross-Sectional Study.

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.

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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.

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Muscle inflammation is regulated by NF-κB from multiple cells to control distinct states of wasting in cancer cachexia.

Cell 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.

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Impact of Sarcopenia on Treatment Outcomes and Toxicity in Locally Advanced Rectal Cancer.

Medicina (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.

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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.

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Article Synopsis
  • Peripheral nerve injuries pose significant challenges in hand and upper extremity trauma, with unsatisfactory repair outcomes despite advancements in microsurgery.
  • The regeneration of peripheral nerves is a complex process influenced by various factors, including neurotrophic factors that support cell growth and nerve recovery.
  • Innovative delivery methods, like gelatin-based conduits and hydrogels, alongside pharmacotherapies such as tacrolimus, show potential in enhancing nerve regeneration and improving clinical outcomes for patients.
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Sarcopenia in general practice: Towards improving muscle health screening, assessment and management in Australia.

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.

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Diagnosis and treatment of patulous Eustachian tube.

Auris 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:

Article Synopsis
  • The review examines patulous Eustachian Tube (PET), first recognized in the 19th century, focusing on its causes, epidemiology, diagnostic criteria, and treatment options.
  • PET is often related to factors like weight loss, pregnancy, and certain medical conditions, but many cases have no clear cause; it predominantly affects adolescents and adults, especially females.
  • Diagnosis is achieved through clinical assessment and imaging, and treatment includes conservative methods or various surgical interventions like the Kobayashi plug, specifically for severe cases that do not respond to initial treatments.
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Muscle Fat and Volume Differences in People With Hip-Related Pain Compared With Controls: A Machine Learning Approach.

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.

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Prevalence of sarcopenic obesity among older adults in communities of China: A multicenter, cross-sectional study.

Nutr 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.

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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.

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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.

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Spinal 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.

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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.

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Article Synopsis
  • - The study reveals that myogenic stem satellite cell activator HGF experiences nitration due to peroxynitrite, leading to its diminished binding to the receptor c-met, which disrupts muscle health as we age.
  • - A specific rat anti-HGF monoclonal antibody, 1H41C10, effectively protects HGF from nitration at critical tyrosine sites (Y198 and Y250), maintaining its function to activate satellite cells.
  • - The findings suggest that 1H41C10 could be significant in developing treatments for age-related muscle loss and conditions like sarcopenia by preventing HGF dysfunction.
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The Lateral Corticospinal Tract Sign: An MRI Marker for Amyotrophic Lateral Sclerosis.

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.

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Prevalence and associated factors related to sarcopenia in people living with HIV/AIDS.

BMC 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).

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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.

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