Analysis of human urinary extracellular vesicles reveals disordered renal metabolism in myotonic dystrophy type 1.

Chronic kidney disease (CKD) and the genetic disorder myotonic dystrophy type 1 (DM1) each are associated with progressive muscle wasting, whole-body insulin resistance, and impaired systemic metabolism. However, CKD is undocumented in DM1 and the molecular pathogenesis driving DM1 is unknown to involve the kidney. Here we use urinary extracellular vesicles (EVs), RNA sequencing, droplet digital PCR, and predictive modeling to identify downregulation of metabolism transcripts Phosphoenolpyruvate carboxykinase-1, 4-Hydroxyphenylpyruvate dioxygenase, Dihydropyrimidinase, Glutathione S-transferase alpha-1, Aminoacylase-1, and Electron transfer flavoprotein B in DM1.

Circulating cell-free DNA as a potential biomarker for prediction of disease activity and prognosis among Egyptian rheumatoid arthritis patients.

Cell-free DNA (cfDNA) has emerged as a potential biomarker for assessing disease activity and prognosis in rheumatoid arthritis (RA). However, the association between cfDNA levels and the established RA markers of inflammation and disease severity remains unclear. The current study aimed to detect plasma levels of cfDNA in patients with RA and to investigate their association with RA activity indicators (erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), disease activity score-28 (DAS28)), prognostic markers (rheumatoid factor (RF), anticitrullinated protein antibodies (ACPA)), and the musculoskeletal ultrasonographic (US7) scores.

Thoracic electrical impedance tomography for assessing progression of pulmonary dysfunction in ALS.

: We compared thoracic electrical impedance tomography (EIT) with slow vital capacity (SVC) to determine if EIT could monitor pulmonary function in ALS patients longitudinally. : Of 32 ALS patients and 32 age- and sex-matched healthy controls (HCs) initially enrolled in the Pulmonary Function via Impedance Tomography (PuFIT) study, 22 ALS and 20 HCs returned for a follow-up visit ∼3.9 months later.

Role of Interleukin-17 in Predicting Activity of Rheumatoid Arthritis and Systemic Lupus Erythematosus.

Background: Although high serum levels of interleukin (IL)-17 and its producing cells have been found in rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) in earlier research, it is still unclear how these findings relate to disease activity.

Objectives: This study examines the link between serum levels of IL-17 and the activity of both RA and SLE.

Design: This pilot case-control study included 100 patients with RA, 100 with SLE, and 100 healthy controls.

Multiple sclerosis treatment underutilization predicts high risk for obstructive sleep apnea in patients with multiple sclerosis.

Background: Obstructive sleep apnea (OSA) is more common in patients with multiple sclerosis (MS) than in the general population, which suggests MS may predispose patients to OSA. However, the relationships between MS treatment, disease activity, disease severity, fatigue, and OSA are unknown.

Objectives: To evaluate the connections between OSA risk, MS fatigue, and MS severity, controlling for well-established risk factors for OSA in the general population.

Assessing pulmonary function in ALS using electrical impedance tomography.

Objective: We sought to determine whether thoracic electrical impedance tomography (EIT) could characterize pulmonary function in amyotrophic lateral sclerosis (ALS) patients, including those with facial weakness. Thoracic EIT is a noninvasive, technology in which a multi-electrode belt is placed across the chest, producing real-time impedance imaging of the chest during breathing.

Methods: We enrolled 32 ALS patients and 32 age- and sex-matched healthy controls (HCs) without underlying lung disease.

Untargeted Metabolomic Analysis of Lactation-Stage-Matched Human and Bovine Milk Samples at 2 Weeks Postnatal.

Epidemiological data demonstrate that bovine whole milk is often substituted for human milk during the first 12 months of life and may be associated with adverse infant outcomes. The objective of this study is to interrogate the human and bovine milk metabolome at 2 weeks of life to identify unique metabolites that may impact infant health outcomes. Human milk ( = 10) was collected at 2 weeks postpartum from normal-weight mothers (pre-pregnant BMI < 25 kg/m) that vaginally delivered term infants and were exclusively breastfeeding their infant for at least 2 months.

The threshold tracking nerve conduction study technique: Experience of clinical users unfamiliar with a research-grade neuronal excitability system.

Objective: To 1) explore if clinical electrophysiologists with different degrees of experience performing standard nerve conduction studies could run a threshold tracking nerve conduction study (TTNCS) protocol and 2) learn how clinical users view a research-grade TTNCSs neuronal excitability system.

Methods: Five clinical electrophysiologists conducted a TTNCS session using QTracS and then completed a questionnaire describing their impressions.

Results: All of the electrophysiologists completed the QTracS protocol on an initial attempt.

A randomized comparative study between high-intensity laser vs low-intensity pulsed ultrasound both combined with exercises for the treatment of knee osteoarthritis.

Objective: To compare the effects of high-intensity laser therapy (HILT) plus exercise therapy (ET) vs low-intensity pulsed ultrasound (LIPUS) plus ET in knee osteoarthritis (KOA).

Methods: A single blinded randomized controlled trial in an outpatient setting. There were 60 participants with grades II and III KOA based on the radiological findings in Kellgren and Lawrence grading scale.

The Impact of Metabolic Syndrome on Quality of Life Among Individuals With Knee Osteoarthritis Living in Egypt.

Background: Several studies have linked metabolic syndrome (MetS) to osteoarthritis (OA), but they have not looked into how MetS can affect the health-related quality of life (HRQOL) of OA individuals.

Objectives: We aimed to assess the association of MetS and its components, including obesity, hypertension, hyperglycemia, and dyslipidemia, with HRQOL among Egyptians with knee OA.

Methods: This cross-sectional study comprised 116 adult Egyptian participants with knee OA.

Can Complete Blood Count Picture Tell Us More About the Activity of Rheumatological Diseases?

Background: In clinical practice, distinguishing disease activity in patients with rheumatological illnesses is challenging.

Objectives: We aimed to investigate clinical associations of hemogram-derived indices, namely: red cell distribution width (RDW), mean platelet volume (MPV), neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), lymphocyte-to-monocyte ratio (LMR), and systemic immune-inflammation index (SII) with disease activity in patients with rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and ankylosing spondylitis (AS).

Methods: In 250 patients with rheumatological disease and 100 healthy age-matched controls, we investigated disease activity scores and indicators and evaluated their association with hemogram-derived indices values.

Blunted Post-COVID-19 Humoral Immunity in Patients With CNS Demyelinating Disorders on Anti-CD20 Treatments.

With unclear characteristics of post-infection and post-vaccination immunity, the multiple sclerosis community lacks evidence to guide patients on their continued coronavirus disease 2019 (COVID-19) infection risk. As disease modifying treatments all modulate the immune system, we expect their use to alter acquired immunity to COVID-19, but the specific impact of individual treatments is unclear. To address this, we analyzed the patient and COVID-19 specific characteristics associated with post-infection humoral immunity in 58 patients with central nervous system (CNS) demyelinating disorders in the Boston metropolitan area.

Post-COVID-19 arthritis: is it hyperinflammation or autoimmunity?

Background:  Various musculoskeletal and autoimmune manifestations have been described in patients with coronavirus disease 2019 (COVID-19). Objectives: This study aims to investigate the prevalence and etiology of arthritis in post-COVID Egyptian patients. Methods: We included 100 post-COVID Egyptian patients who recovered 6 months ago and assessed several inflammatory and autoimmune markers.

Melanoma Targeted Therapies beyond -Mutant Melanoma: Potential Druggable Mutations and Novel Treatment Approaches.

Melanomas exhibit the highest rate of somatic mutations among all different types of cancers (with the exception of BCC and SCC). The accumulation of a multimode of mutations in the driver oncogenes are responsible for the proliferative, invasive, and aggressive nature of melanomas. High-resolution and high-throughput technology has led to the identification of distinct mutational signatures and their downstream alterations in several key pathways that contribute to melanomagenesis.

A New England COVID-19 Registry of Patients With CNS Demyelinating Disease: A Pilot Analysis.

Background And Objectives: We sought to define the risk of severe coronavirus disease 2019 (COVID-19) infection requiring hospitalization in patients with CNS demyelinating diseases such as MS and the factors that increase the risk for severe infection to guide decisions regarding patient care during the COVID-19 pandemic.

Methods: A pilot cohort of 91 patients with confirmed or suspected COVID-19 infection from the Northeastern United States was analyzed to characterize patient risk factors and factors associated with an increased severity of COVID-19 infection. Univariate analysis of variance was performed using the Mann-Whitney test or analysis of variance for continuous variables and the χ or Fisher exact test for nominal variables.

Prevalence of Latent Tuberculosis in the Multiple Sclerosis Clinic and Effect of Multiple Sclerosis Treatment on Tuberculosis Testing.

Background: Patients with a compromised immune system are at risk for converting from latent tuberculosis infection (LTBI) to active tuberculosis (TB) infection. Multiple sclerosis (MS) therapies may put individuals with LTBI at higher risk of TB.

Methods: Patients at the Beth Israel Deaconess Medical Center MS Clinic were screened for TB as part of routine testing with the QuantiFERON-TB Gold In-Tube (QFT-GIT) assay (Cellestis Ltd) from 2013 to 2017.

Leptomeningeal Enhancement on 3D-FLAIR MRI in Multiple Sclerosis: Systematic Observations in Clinical Practice.

Background And Purpose: Meningeal inflammation is implicated in cortical demyelination and disability progression in multiple sclerosis (MS). Gadolinium (Gd)-enhanced 3-dimensional (3D) FLAIR (fluid-attenuated inversion recovery) magnetic resonance imaging (MRI) can identify leptomeningeal enhancement (LME) in MS. Further characterization is needed to determine if LME is an imaging biomarker for meningeal inflammation.

Neurolymphomatosis of the lumbosacral plexus and its branches: case series and literature review.

Background: Neurolymphomatosis (NL) is a direct process of invasion of peripheral nerves by lymphoma. It occurs in roughly 5% of patients with lymphoma and represents a particularly difficult diagnostic dilemma when it is the presenting focal manifestation of occult lymphoma.

Case Presentation: We present 3 examples of invasion of the lumbosacral plexus and its branches.

Correction to: Risk factors for lymphopenia in patients with relapsing-remitting multiple sclerosis treated with dimethyl fumarate.

Unfortunately, the given name and family name of first author was incorrectly tagged in the xml data, therefore it is abbreviated wrongly as "Morales FS" in Pubmed. The correct given name is Fabian and family name is Sierra Morales. Auhtor name should be abbreviated as Sierra Morales F.

Risk factors for lymphopenia in patients with relapsing-remitting multiple sclerosis treated with dimethyl fumarate.

Objectives: To identify risk factors for DMF-induced lymphopenia and characterize its impact on T lymphocyte subsets in MS patients.

Methods: We performed a retrospective analysis of 194 RRMS patients treated with DMF at the Beth Israel Deaconess Medical Center (BIDMC) over a median of 17 months. We reviewed demographics, ethnic background, prior medication history, complete blood counts and T lymphocyte subsets.

Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.

Introduction: RNA polymerase III (Pol III)-related leukodystrophies are a group of autosomal recessive neurodegenerative disorders caused by mutations in POLR3A and POLR3B. Recently a recessive mutation in POLR1C causative of Pol III-related leukodystrophies was identified.

Methods: We report the case of a Tunisian girl of 14 years of age who was referred to our department for evaluation of progressive ataxia that began at the age of 5.

Characterization of Pulmonary Emboli in Total Joint Arthroplasty Patients Compared to General Medical Patients.

Pulmonary emboli (PEs) occur in medical and postoperative total joint arthroplasty (TJA) patients. These are different patient populations, yet both undergo identical diagnosis and treatment regardless of PEs size and quantity. To date, there has been no analysis of the location, size, and quantity of emboli that occur postoperatively in TJA compared with general medical patients.