What are the benefits and harms of belimumab for patients with systemic lupus erythematosus?: A Cochrane Review summary with commentary

The aim of this commentary is to discuss the published Cochrane Review “Belimumab for systemic lupus erythematosus”1 by Singh et al.,a under the direct supervision of Cochrane Musculoskeletal Group. This Cochrane Corner is produced in agreement with International Journal of Rheumatic Diseases by Cochrane Rehabilitation

Myths and Truths about Placebo Effect in Rehabilitation for Musculoskeletal Pain.

This commentary provides the authors’ point of view about the biopsychosocial perspective of placebo effect on musculoskeletal pain in the rehabilitation fiel

The Rationale for Using Neridronate in Musculoskeletal Disorders: From Metabolic Bone Diseases to Musculoskeletal Pain

Neridronate or ((6-amino-1-hydroxy-1-phosphonohexyl) phosphonic acid) is an amino-bisphosphonate (BP) synthetized in Italy in 1986. Bisphosphonates are molecules with a P-C-P bond in their structure that allows strong and selectively binding to hydroxyapatite (HAP) as well as osteoclasts inhibition through different mechanisms of action. Neridronate was initially used to treat Paget disease of the bone, demonstrating effectiveness in reducing bone turnover markers as well as pain. The interesting molecular properties of neridronate foster its wide use in several other conditions, such as osteogenesis imperfecta, and osteoporosis. Thanks to the unique safety and efficacy profile, neridronate has been used in secondary osteoporosis due to genetic, rheumatic, and oncological diseases, including in pediatric patients. In the last decade, this drug has also been studied in chronic musculoskeletal pain conditions, such as algodystrophy, demonstrating effectiveness in improving extraskeletal outcomes. This review highlights historical and clinical insights about the use of neridronate for metabolic bone disorders and musculoskeletal pain conditions

Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC23B gene

SEC23B gene encodes an essential component of the coat protein complex II (COPII)-coated vesicles. Mutations in this gene cause the vast majority the congenital dyserythropoietic anemia Type II (CDA II), a rare disorder resulting from impaired erythropoiesis. Here, we investigated 28 CDA II patients from 21 unrelated families enrolled in the CDA II International Registry. Overall, we found 19 novel variants [c.2270 A>C p.H757P; c.2149−2 A>G; c.1109+1 G>A; c.387(delG) p.L129LfsX26; c.1858 A>G p.M620V; c.1832 G>C p.R611P; c.1735 T>A p.Y579N; c.1254 T>G p.I418M; c.1015 C>T p.R339X; c.1603 C>T p.R535X; c.1654 C>T p.L552F; c.1307 C>T p.S436L; c.279+3 A>G; c. 2150(delC) p.A717VfsX7; c.1733 T>C p.L578P; c.1109+5 G>A; c.221+31 A>G; c.367 C>T p.R123X; c.1857_1859delCAT; p.I619del] in the homozygous or the compound heterozygous state. Homozygosity or compound heterozygosity for two nonsense mutations was never found. In four cases the sequencing analysis has failed to find two mutations. To discuss the putative functional consequences of missense mutations, computational analysis and sequence alignment were performed. Our data underscore the high allelic heterogeneity of CDA II, as the most of SEC23B variations are inherited as private mutations. In this mutation update, we also provided a tool to improve and facilitate the molecular diagnosis of CDA II by defining the frequency of mutations in each exon. Am. J. Hematol., 2010. © 2010 Wiley-Liss, Inc

Challenges and Solutions for Musculoskeletal Disorders in Athletes

The etymology of the word “athlete” derives from the ancient Greek ἀθλητής (athletés, from âthlos that is, fight, competition) [...

A review of aceclofenac: Analgesic and anti-inflammatory effects on musculoskeletal disorders

Aceclofenac is an oral non-steroidal anti-inflammatory drug (NSAID) with antiinflammatory and analgesic properties. Although there are some differences in the authorized indications between countries, aceclofenac is mainly recommended for the treatment of inflammatory and painful processes, such as low back pain (LBP), scapulohumeral periarthritis, extraarticular rheumatism, odontalgia, and osteoarthritis (OA), rheumatoid arthritis (RA), and ankylosing spondylitis (AS). The analgesic properties and tolerability profile of aceclofenac in musculoskeletal disorders are reviewed, focusing on relevant and recent studies. The efficacy and safety comparison of aceclofenac with other analgesics and anti-inflammatory agents in OA, AS, RA, and LBP is described. Relevant studies were identified following a literature search of PubMed using the terms “aceclofenac” and “clinical trials” published from 1 Jan 1992 to 1 Jan 2020. Aceclofenac is at least as effective as other NSAIDs in reducing pain and/or improving functional capacity in chronic pain conditions (OA, AS, RA, and LBP). It is generally well tolerated and appears to have a more favorable GI profile than other NSAIDs. Thus, current evidence indicates that aceclofenac is a useful option for the management of pain and inflammation across a wide range of painful conditions

Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: case report.

Prokineticin 2 (Prok2) or prokineticin-receptor2 (Prok-R2) gene mutations are associated with Kallmann syndrome (KS). We describe a new homozygous mutation of Prok-R2 gene in a man displaying KS with an apparent reversal of hypogonadism. The proband, offspring of consanguineous parents, presented at age 19 years with absent puberty, no sense of smell, low testosterone and gonadotrophin levels. Magnetic resonance imaging showed olfactory bulb absence. The patient achieved virilization and spermatogenesis with gonadotrophin administration. Two years after discontinuing hormonal therapy, he maintained moderate oligozoospermia and normal testosterone levels. Prok2 and Prok- R2 gene sequence analyses were performed. The proband had a homozygous mutation in Prok-R2 exon 2 that harbours the c.T820>A base substitution, causing the introduction of an aspartic acid in place of valine at position 274 (Val274Asp). His mother had the same mutation in heterozygous state. This report describes a novel homozygous mutation of Prok-R2 gene in a man with variant KS, underlying the role of Prok-R2 gene in the olfactory and reproductive system development in humans. Present findings indicate that markedly delayed activation of gonadotrophin secretion may occur in some KS cases with definite gene defects, and that oligozoospermia might result from a variant form of reversible hypogonadotrophic hypogonadism

Rehabilitation of Neuromuscular Diseases During COVID-19: Pitfalls and Opportunities

The outbreak of COVID-19 caused by SARS-CoV-2 has spread worldwide with a huge impact on the healthcare system. Compared to the previous coronaviruses-related pandemics, COVID-19 is more transmissible with potential systemic involvement and peculiar neurological manifestations, such as Guillan-Barrè syndrome up to critical illness myopathy, occurring in the intensive care setting. In this clinical scenario, people living with a neuromuscular disease (NMD) represent a vulnerable category with a high risk of a severe course of COVID-19. Moreover, in the NMD population, the management of respiratory and muscular impairments after SARS-CoV-2 infection might be troubling in terms of both pharmacological and rehabilitative approaches. To date, rehabilitation is still an unmet need in this population with several implications on NMD progression with and without SARS-CoV-2 infection. In particular, rehabilitation intervention for patients with NMD after COVID-19 are lacking. Therefore, in the current paper, we analyze the critical issues of COVID-19 on NMDs patients and propose a home-based rehabilitation program targeted for this population after mild to moderate SARS-CoV-2 infection