Neutral Lipid Storage Disease With Myopathy and Infiltrative Cardiomyopathy Initially Presenting as Right Arm Weakness.

Neutral lipid storage disease with myopathy is a rare genetic syndrome of abnormal intracellular lipolysis leading to lipid droplet accumulation in skeletal and cardiac muscle. Because of variability in clinical presentations, a multidisciplinary approach is essential for diagnosis and treatment.

Sporadic Late-Onset Nemaline Rod Myopathy: An Interesting Case.

Sporadic late-onset nemaline rod myopathy is a rare, acquired, sub-acute, adult-onset myopathy characterized by proximal muscle weakness and nemaline rods in the myofibers. In contrast to its congenital form, the prevalence in adult population is comparatively rare. Herein, we report a case of 60-year-old male who presented with insidious onset proximal muscle weakness with myopathic pattern on electromyography.

Isolated Shoulder Weakness as a Manifestation of Acute Ischemic Stroke: A Rare Presentation.

There is somatotopic organization of body in motor and sensory cortex of brain. Distal parts of a limb have a much larger area of presentation as compared to proximal parts. So, isolated distal hand muscle weakness as a manifestation of stroke is not so uncommon, but isolated shoulder muscle weakness as a manifestation of stroke is very rare.

[Effects of overweight and obesity on symptoms, overall condition and quality of life in patients with fibromyalgia syndrome].

Objective: To explore the effects of overweight and obesity (overweight/obesity) on symptom severity and quality of life in Chinese patients with fibromyalgia syndrome (FMS).

Methods: A cross-sectional survey was used to collect general data on height, weight, gender and age of 435 FMS patients who visited the rheumatology clinic of Guang 'anmen Hospital from October 2018 to December 2021. The numbers of tender points, widespread pain index and symptom severity scale were used as diagnostic indicators of the disease.

[Analysis of clinical features of ruccrent interstitial lung disease in patients with anti-EJ positive antisynthetase syndrome].

Objective: To summarize the clinical characteristics of 57 patients diagnosed with anti-glycyl tRNA synthetase (anti-EJ) positive antisynthetase syndrome (ASS), a subtype of anti-glycyl tRNA positive ASS, complicated by interstitial lung disease (ILD), and to investigate the factors asso-ciated with ILD recurrence.

Methods: A retrospective analysis was conducted on the clinical data of 57 anti-EJ positive ASS patientswho were treated at the First Affiliated Hospital of Nanjing Medical University from January 1, 2020 to June 30, 2024. The data collected included demographic information, clinical characteristics, laboratory test results, chest CT findings, and pulmonary function tests.

[Natural history of spinal muscular atrophy type I].

Spinal muscular atrophy (SMA) is a group of genetically heterogeneous neuromuscular diseases characterized by the progressive loss of motor neurons in the anterior horns of the spinal cord. The prevalence of SMA is approximately 1 in 10.000 live births.

Development of a natural rubber latex-based biodevice with mesenchymal stem cells as a potential treatment for skeletal muscle regeneration in gestational diabetes-induced myopathy.

Women with gestational diabetes mellitus show a high risk of developing Gestational Diabetes Induced Myopathy (GDiM). GDiM is characterized by significant pelvic floor skeletal muscle atrophy and urinary incontinence. This study aimed to develop a natural rubber latex (NRL) based biodevice with mesenchymal/stromal stem cells (MSCs) for skeletal muscle regeneration for women with GDiM.

Longitudinal Insights Into Childhood Onset Facioscapulohumeral Dystrophy: A 5-Year Natural History Study.

Background And Objectives: Facioscapulohumeral dystrophy (FSHD) is an inherited muscle disorder, with childhood onset in 20% of patients. Understanding the natural history of childhood FSHD and identifying clinical and functional outcome measures are crucial for clinical care and future trials.

Methods: In a prospective nationwide FSHD cohort study (iFocus), 20 childhood-onset patients were assessed at baseline, 2 years, and 5 years.

Colchicine Alleviates Interstitial Lung Disease in an Experimental Autoimmune Myositis Murine Model by Inhibiting the Formation of Neutrophil Extracellular Traps.

Our previous study has shown that neutrophil extracellular traps (NETs) were associated with idiopathic inflammatory myopathy-related interstitial lung disease (IIM-ILD). Colchicine plays an anti-inflammatory role mainly by inhibiting the activity and chemotaxis of neutrophils. This study aims to verify therapeutic effects and mechanism of colchicine in IIM-ILD.

Much More Than a Stroke: Emery-Dreifuss Muscular Dystrophy Type 2 Revealed by Ischemic Stroke.

Emery-Dreifuss muscular dystrophy type 2 (EDMD2) is a rare autosomal dominant neuromuscular disorder caused by LMNA gene mutations and characterized by progressive skeletal muscle weakness and significant cardiac involvement. We report the case of a 45-year-old woman who presented with sudden-onset, left-sided hemiparesis and dysarthria. Initial imaging was unremarkable, and symptoms transiently improved, suggesting a transient ischemic attack.

Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016.

Background: The advent of disease-modifying treatments (DMT) has changed natural history in 5q Spinal muscular atrophy (SMA). The aim of this study was to report survival and functional aspects in all the Italian type I children born since 2016.

Methods: The study included all symptomatic children with type I SMA born since January 1st, 2016, when DMTs became available in Italy.

Successful management of immunotherapy-resistant respiratory failure in anti-mitochondrial M2 antibody-positive myositis by modified lung volume recruitment therapy: A case report.

Rationale: Anti-mitochondrial antibodies (AMA) M2-positive myositis can lead to severe respiratory failure. Traditional immunotherapies sometimes fail to address respiratory failure. Herein, this CARE-compliant case report described a patient with AMA-M2-positive myositis who recovered from ventilation with tracheostomy owing to immunotherapy-resistant respiratory failure to spontaneous breathing after modified lung volume recruitment (mLVR) therapy.

Diaphragmatic pheochromocytoma: Two case reports and a review of the literature.

Rationale: Pheochromocytomas typically arise in the adrenal medulla, whereas ectopic pheochromocytomas/paragangliomas commonly occur near the abdominal aorta, bladder, mediastinum, and head. Diaphragmatic pheochromocytomas are exceedingly rare, and there is limited surgical experience with their treatment.

Patient Concerns: In Case A, the subject is a 45-year-old male, while in Case B, the subject is a 59-year-old female.

An appraisal and comparative analysis of superb microvascular imaging with conventional ultrasound and MRI for greater trochanteric pain syndrome management.

Greater trochanteric pain syndrome (GTPS) is a common cause of hip pain and is often associated with chronic lower back pain and lower extremity osteoarthritis. Its diagnosis is clinical; however, imaging has been shown to aid in the differential diagnosis of challenging cases. Superb microvascular imaging (SMI) is a new technique that may be more effective than power Doppler ultrasonography (PDUS) in the detection of inflammation-related vascularity in patients.

Temporomandibular joint and masticatory muscles morphometry and morphology in healthy subjects and individuals with temporomandibular dysfunction: An anatomical, radiological, and machine learning application study.

The study aimed to compare the morphometric and morphologic analyses of the bone structures of temporomandibular joint and masticatory muscles on Cone beam computed tomography (CBCT) in 62 healthy subjects and 33 subjects with temporomandibular dysfunction (TMDS) aged between 18 and 56 years. In addition, a machine learning (ML) pipeline involving the Random Forest classifier was used to automatically detect TMDS. Thirty parameters (including age and gender) associated with the condylar process, articular tubercle, mandibular fossa, ramus mandible, joint space, and masticatory muscles were examined using CBCT.

Does Muscle Pain Induce Alterations in the Pelvic Floor Motor Unit Activity Properties in Interstitial Cystitis/Bladder Pain Syndrome? A High-Density sEMG-Based Study.

Several studies have shown interstitial cystitis/bladder pain syndrome (IC/BPS), a chronic condition that poses challenges in both diagnosis and treatment, is associated with painful pelvic floor muscles (PFM) and altered neural drive to these muscles. However, its pathophysiology could also involve other alterations in the electrical activity of PFM motor units (MUs). Studying these alterations could provide novel insights into IC/BPS and help its clinical management.

Electromyographic Activity of Cervical Muscles in Patients with Neck Pain and Changes After Dry Needling: A Narrative Review.

Neck pain can be associated with specific conditions, such as neurological disorders, vascular or inflammatory diseases, fractures, herniated discs, etc. However, the majority of neck pain cases cannot be attributed to a specific cause. The objective of this review is to describe the muscle dysfunctions associated with neck pain, as measured by electromyography, and to determine the effectiveness of dry needling in improving these muscular dysfunctions.

Low-Dose Creatine Supplementation May Be Effective in Early-Stage Statin Myopathy: A Preliminary Study.

Statins are the main cholesterol-lowering treatments, but often they are stopped because of statin myopathy. Expensive second-line treatments are then prescribed, causing a burden on the health system. Previous research showed that creatine supplementation may be a relatively inexpensive, safe, and effective way to mitigate statin toxicity to the muscle.

Impact of the Gene Polymorphisms on Pain Perception in Tennis Elbow Patients: A Two-Year Prospective Cohort Study.

The gene encodes the α1 chain of type I collagen, and the data reported so far demonstrate that its polymorphic variants may affect biomechanical properties of bones, muscles, and tendons, and contribute to musculoskeletal disorders. Given, however, limited research on these variants in tendon pathology, we analyzed the impact of polymorphisms on the tendinopathy phenotype and the effectiveness of platelet-rich plasma (PRP) treatment for tennis elbow. Pain perception and therapy outcomes were analyzed from baseline, i.

The Gene Variants and the Effectiveness of Platelet-Rich Plasma Treatment of Lateral Elbow Tendinopathy: A Prospective Cohort Study with a Two-Year Follow-Up.

Platelet-rich plasma (PRP) is an autologous preparation used to accelerate regeneration; however, this form of therapy is not always effective. Vascular endothelial growth factor B (), which affects vessel survival, pathological angiogenesis, and muscle development may differentiate the risk and treatment of lateral elbow tendinopathy (LET). In this study, we analyzed the influence of gene polymorphisms on the effectiveness of LET treatment with PRP.

Unveiling the Future of Cardiac Care: A Review of Gene Therapy in Cardiomyopathies.

For years, the treatment of many cardiomyopathies has been solely focused on symptom management. However, cardiomyopathies have a genetic substrate, and directing therapy towards the pathophysiology rather than the epiphenomenon of the disease may be a winning strategy. Gene therapy involves the insertion of genes or the modification of existing ones and their regulatory elements through strategies like gene replacement and gene editing.

Congenital Titinopathies Linked to Mutations in Metatranscript-Only Exons.

Congenital titinopathies reported to date show autosomal recessive inheritance and are caused by a variety of genomic variants, most of them located in metatranscript (MTT)-only exons. The aim of this study was to describe additional patients and establish robust genotype-phenotype associations in titinopathies. This study involved analyzing molecular, clinical, pathological, and muscle imaging features in 20 patients who had at least one pathogenic or likely pathogenic variant in MTT-only exons, with onset occurring antenatally or in the early postnatal stages.