Investigating phenotypic variability patterns in myotonic dystrophy type 2 in a neuromuscular referral center retrospective cohort.

We aimed at investigating the presence of patterns that account for the phenotypic variability in a myotonic dystrophy type 2 (DM2) retrospective cohort at the Mass General Brigham Neuromuscular Centers. We collected the presence or absence of 23 clinical variables at symptom onset and diagnosis (n = 67 patients) and follow-up (n = 37 patients). We first identified set/s of variables (factors or cluster/s) representative of the large research data pool at onset by performing factor analyses, then assigned each patient to the cluster for which they had the highest computed total factor score.

Crush injuries to the lower limbs at a major UK trauma centre: a retrospective observational study.

Purpose: Crush injuries result from the physical compression of muscles and may lead to crush syndrome. Early fluid resuscitation and surgical intervention is key. Few studies have reported the outcomes of crush injuries in the non-disaster setting.

Measurement Properties of the Dysphagiameter for the Assessment of Dysphagia in Oculopharyngeal Muscular Dystrophy.

Oculopharyngeal muscular dystrophy (OPMD) is a rare late-onset muscle disease with progressive dysphagia as a major symptom. The Dysphagiameter is a newly developed patient-reported outcome measure (PROM) to assess the severity of dysphagia and its impact in patients with OPMD. This article reports on item reduction and a first assessment of the Dysphagiameter's psychometrics properties, in a French and English-speaking population of individuals with OPMD.

The relationship of serum vaspin level with clinical parameters in patients with fibromyalgia syndrome.

Vaspin plays a regulatory role in lipid and glucose metabolism and is a therapeutic adipokine against impaired glucose intolerance in obese individuals. We aimed to investigate serum vaspin levels in patients with FMS and whether there was any relationship between vaspin levels and metabolic and clinical parameters in fibromyalgia. A total of 64 female patients who applied to an outpatient clinic due to widespread pain lasting more than three months were included in the study.

Calcium level and autophagy defect in GNE mutants of rare neuromuscular disorder.

Rare genetic disorders are low in prevalence and hence there is little or no attention paid to them in the mainstream medical industry. One of the ultra-rare neuromuscular disorders, GNE myopathy is caused due to biallelic mutations in the bifunctional enzyme, GNE (UDP N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase). It catalyses the rate-limiting step in sialic acid biosynthesis.

Achieving Medication-Free Remission in Patients With Juvenile Dermatomyositis.

Objective: Prognostic factors associated with medication discontinuation in children with juvenile dermatomyositis (JDM) remain largely elusive. We aim to identify the predictors of medication-free remission (MFR) in children with JDM.

Methods: In this retrospective study, patients diagnosed with JDM according to Peter & Bohan criteria and followed for ≥18 months at a tertiary care center from 2006 through 2022 were included.

Phosphoinositide signaling in the nucleus: Impacts on chromatin and transcription regulation.

Phosphoinositides also called Polyphosphoinositides (PPIns) are small lipid messengers with established key roles in organelle trafficking and cell signaling in response to physiological and environmental inputs. Besides their well-described functions in the cytoplasm, accumulating evidences pointed to PPIns involvement in transcription and chromatin regulation. Through the description of previous and recent advances of PPIns implication in transcription, this review highlights key discoveries on how PPIns modulate nuclear factors activity and might impact chromatin to modify gene expression.

Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era.

Neuromuscular disorders (NMD) with neonatal or early infantile onset are usually severe and differ in symptoms, complications, and treatment options. The establishment of a diagnosis relies on the combination of clinical examination, morphological analyses of muscle biopsies, and genetic investigations. Here, we re-evaluated and classified a unique collection of 535 muscle biopsies from NMD infants aged 0-6 months examined over a period of 52 years.

Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.

Glycogen storage disorders (GSD) GSD-IX are characterized by deficiencies in muscular and/or hepatic phosphorylase enzymes. GSD type IX za is an X-linked disorder, while IXb and IXc are autosomal recessive disorders resulting from pathogenic variants in the genes encoding the Phosphorylase b Kinase regulatory subunit alpha (PHKA), beta (PHKB), and gamma (PHKG), respectively. Despite progress in understanding these diseases, there are still unclear questions regarding their clinical manifestations, genetic variations, and the relationship between genotype and phenotype.

Proportional myoelectric control of a virtual bionic arm in participants with hemiparesis, muscle spasticity, and impaired range of motion.

Background: This research aims to improve the control of assistive devices for individuals with hemiparesis after stroke by providing intuitive and proportional motor control. Stroke is the leading cause of disability in the United States, with 80% of stroke-related disability coming in the form of hemiparesis, presented as weakness or paresis on half of the body. Current assistive exoskeletonscontrolled via electromyography do not allow for fine force regulation.

Multidisciplinary approach to occlusal rehabilitation in a patient with true hemifacial hyperplasia and temporomandibular joint ankylosis: a case report.

Background: This case report details a true hemifacial hyperplasia with temporomandibular joint ankylosis case managed through a multidisciplinary approach involving department of oral and maxillofacial surgery, orthodontics, and prosthodontics.

Case Presentation: A 42-year-old female patient presented with a chief complaint of limited mouth opening. Clinically, the patient exhibited severe facial asymmetry due to hyperplasia of the left facial region.

A New Perspective on Drugs for Duchenne Muscular Dystrophy: Proposals for Better Respiratory Outcomes and Improved Regulatory Pathways.

New drugs for Duchenne muscular dystrophy (DMD) are emerging rapidly. However, we and others believe these drugs are achieving regulatory approval prematurely. It is the cardiorespiratory complications of DMD that cause the disease's major morbidities and that determine survival.

Amyotrophic lateral sclerosis caused by SOD1 variants: from genetic discovery to disease prevention.

Pathogenic variants in the superoxide dismutase 1 (SOD1) gene were the first identified genetic cause of amyotrophic lateral sclerosis (ALS), in 1993. This discovery enabled the development of transgenic rodent models for studying the biology of SOD1 ALS. The understanding that SOD1 ALS is driven by a toxic gain-of-function mutation has led to therapeutic strategies that aim to lower concentrations of SOD1 protein, an endeavour that has been complicated by the phenotypic heterogeneity of SOD1 ALS.

Novel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review.

Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth type 2S (CMT2S) typically present before age 10. Genetic factors account for up to 50 % of neuropathies, which often display varied symptoms. Mutations in the IGHMBP2 gene are associated with both CMT2S and SMARD1, resulting in a rare clinical condition marked by axonal neuropathy, spinal muscular atrophy, respiratory distress, and muscle weakness.

Injection of an allodermal matrix and leukocyte-rich platelet-rich plasma mixture improved the tendon integrity in cases of full-thickness common extensor tendon tears of the elbow: Two case reports.

Rationale: Lateral epicondylitis, commonly known as tennis elbow, is a chronic condition characterized by tendinosis at the insertion site of the lateral epicondyle. Various treatment methods are available, ranging from conservative to surgical options for refractory lateral epicondylitis. Recently, platelet-rich plasma (PRP) injections have shown effectiveness for treating this condition.

Longitudinal Course of Physical and Psychosocial Impairment in Patients With Borderline Personality Disorder and Personality-Disordered Comparison Subjects: Description and Prediction.

This study describes the 8-year course of physical and psychosocial impairment in middle-aged patients with borderline personality disorder (BPD) and other personality disorders (OPD). This study also compares BPD subgroups (recovered vs. nonrecovered) and explores predictors of physical impairment.

[Analysis of changes in the position of the temporomandibular joint articular disc during positioning splint therapy according to magnetic resonance imaging data].

The Aim Of The Study: Was to assess an impact of positioning occlusal splints made by various methods on the position of the articular disc of the temporomandibular joint according to MRI data.

Materials And Methods: 40 patients (8 men and 32 women) aged from 18 to 60 years with temporomandibular joint pain dysfunction syndrome were examined (ICD-10 code K07.60).

Management of Osteoporosis in Parkinson's Disease: A Systematic Review of Clinical Practice Guidelines.

Background: Parkinson's disease (PD) is the fastest-growing neurological disorder globally. Defining features include tremor, muscular rigidity, bradykinesia, and postural instability, which in combination with nonmotor symptoms such as cognitive impairment and orthostatic hypotension increase the risk of falls. Along with low bone mineral density, fracture risk is high in PD.

Case report: A single novel calpain 3 gene variant associated with mild myopathy.

Recessively inherited limb-girdle muscular dystrophy type 1, caused by mutations in the calpain 3 gene, is the most common limb-girdle muscular dystrophy worldwide. Recently, cases of autosomal dominant calpainopathy have been described. A man was referred to our neurological outpatient clinic at the age of 54 for persistent hyperCKemia (>1000 U/l) associated with muscle fatigue and myalgia.

Efficacy of heel lifts for insertional Achilles tendinopathy (LIFTIT): A randomised feasibility trial.

Objectives: Insertional Achilles tendinopathy is a common and disabling condition. This trial aimed to determine the feasibility of conducting a parallel group randomised trial to evaluate the efficacy of heel lifts compared to a sham intervention for reducing pain intensity associated with insertional Achilles tendinopathy.

Methods: Twenty-six people with insertional Achilles tendinopathy were randomised to either the heel lift group or sham intervention group.

Gene Therapy: Towards a New Era of Medicine.

Over the past years, many significant advances have been made in the field of gene therapy and shown promising results in clinical trials conducted. Gene therapy aims at modifying or replacing a defective, inefficient, or nonfunctional gene with a healthy, functional gene by administration of genome material into the cell to cure genetic diseases. Various methods have been devised to do this by using several viral and non-viral vectors which are either administered by in vivo or ex vivo technique.

Wnt7a is required for regeneration of dystrophic skeletal muscle.

Intramuscular injection of Wnt7a has been shown to accelerate and augment skeletal muscle regeneration and to ameliorate dystrophic progression in mdx muscle, a model for Duchenne muscular dystrophy (DMD). Here, we assessed muscle regeneration and function in wild type (WT) and mdx mice where Wnt7a was deleted in muscle using a conditional Wnt7a floxed allele and a Myf5-Cre driver. We found that both WT and mdx mice lacking Wnt7a in muscle, exhibited marked deficiencies in muscle regeneration at 21 d following cardiotoxin (CTX) induced injury.

Intermuscular hydatid cyst in the thigh musculature: a case report.

Introduction: Echinococcus granulosus, a tapeworm, is responsible for causing hydatid disease. Hydatid cysts rarely affect the musculoskeletal system, occurring in less than 5% of cases. This case report presents the clinical presentation, diagnosis, and management of muscle echinococcosis.