Acute giardiasis and Chapman reflexes: Musculoskeletal symptoms preceding, during and after infection

Giardiasis is an acute infection caused by Giardia lamblia, which produces profuse secretory diarrhea that can lead to dehydration and electrolyte derangement. Musculoskeletal manifestations resulting because of giardiasis occur due to prolonged inflammation and viscero-somatic reflexes of the pathophysiology for this disease process. By treating the parasitic infection with an antiparasitic agent, as well as treating the somatic dysfunctions with osteopathic manipulative treatment, analgesics and a home exercise program, the patient in the following article experienced an uneventful course of treatment and a complete recovery including resolution of the pain.

Musculoskeletal Manifestations in Sjogren’s Syndrome

Sjögren’s syndrome (SS) is a chronic, autoimmune, inflammatory disease characterized by lymphocytic infiltration, destruction and dysfunction of the exocrine glands. Sjögren’s syndrome can be described as primary or secondary, depending on whether it occurs alone or in association with other systemic autoimmune diseases. Systemic manifestations of SS involve the musculoskeletal system. SS can be seen in association with both joint and muscle manifestations, including arthralgia and arthritis, as well as myopathy, which is usually asymptomatic. Besides, it may include bone metabolic disorders, fatigue and fibromyalgia. The diagnosis of Sjögren’s syndrome is based on characteristic clinical signs and symptoms. The etiology and pathogenesis of SS is elusive and has not yet been clarified. There is no curative treatment for SS, thus the aim in the treatment of SS is to alleviate the symptoms.

Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome

BackgroundAmong the several musculoskeletal manifestations in patients with Marfan syndrome, spinal deformity causes pain and respiratory impairment and is a great hindrance to patients’ daily activities. The present study elucidates the genetic risk factors for the development of severe scoliosis in patients with Marfan syndrome.MethodsWe retrospectively evaluated 278 patients with pathogenic or likely pathogenic FBN1 variants. The patients were divided into those with (n=57) or without (n=221) severe scoliosis. Severe scoliosis was defined as (1) patients undergoing surgery before 50 years of age or (2) patients with a Cobb angle exceeding 50° before 50 years of age. The variants were classified as protein-truncating variants (PTVs), which included variants creating premature termination codons and inframe exon-skipping, or non-PTVs, based on their location and predicted amino acid alterations, and the effect of the FBN1 genotype on the development of severe scoliosis was examined. The impact of location of FBN1 variants on the development of severe scoliosis was also investigated.ResultsUnivariate and multivariate analyses revealed that female sex, PTVs of FBN1 and variants in the neonatal region (exons 25–33) were all independent significant predictive factors for the development of severe scoliosis. Furthermore, these factors were identified as predictors of progression of existing scoliosis into severe state.ConclusionsWe elucidated the genetic risk factors for the development of severe scoliosis in patients with Marfan syndrome. Patients harbouring pathogenic FBN1 variants with these genetic risk factors should be monitored carefully for scoliosis progression.

Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome of femoral neoplasm-like onset: a case-based review

Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is an umbrella term covering a constellation of bone lesions and skin manifestations, but has rarely been clarified in the clinic. We report a 28-year-old woman who had initial onset of SAPHO syndrome with involvement of the femur, and she experienced a tortuous diagnostic course. We also performed a literature review of SAPHO syndrome cases involving the femur and summarize several empirical conclusions by integrating previous findings with our case. Furthermore, we propose our perspective that ailment of the skin caused by infection of pathogens might be the first hit for triggering or perpetuating the activation of the immune system. As a result, musculoskeletal manifestations are probably the second hit by crosstalk of an autoimmune reaction. The skin manifestations preceding bone lesions can be well explained. Current interventions for SAPHO syndrome remain controversial, but drugs aiming at symptom relief could serve as the first preference for treatment. An accurate diagnosis and appropriate treatment can cure patients in a timely manner. Although the pathogenesis of SAPHO syndrome remains to be determined, physicians and surgeons still need to heighten awareness of this entity to avoid invasive procedures, such as frequent biopsies or nonessential ostectomy.

From bowel inflammation to the bone and joints: musculoskeletal examination in inflammatory bowel disease (IBD)

Background One of the most important complications in inflammatory Bowel Disease (IBD) are musculoskeletal manifestations that are reported in more than 50% of patients. Objectives In this study, we aimed to evaluate the musculoskeletal and radiologic manifestations in our IBD patients. Methods In this cross-sectional study on 96 mild-to-moderate IBD patients (76 UC, 18 CD and 2 undifferentiated IBD) with mean (SD) age of 39.28 (11.42) years, 44 (45.8%) were males and 52 were (54.2%) females. Patients were examined by an expert rheumatologist and their musculoskeletal symptoms were assessed. The musculoskeletal system was evaluated by Modified Schober test, Thoracic expansion (TE), Occiput to wall distance (OWD), and Patrick’s or FABER test. Peripheral joints were also examined in all four extremities. Then patients were referred for pelvic and lumbosacral x-ray. Sacroiliitis grading was performed using the New York criteria. Results Inflammatory low back pain was reported in 5 (5.2%), enthesopathy in 6 (6.5%) and dactylitis in 1 (1.1%). Positive Schober test was recorded in 5 (5.2%) and Patrick test in 3 (3.1%). Forty-nine (51%) cases had normal imaging with no sacroiliitis, endplate sclerosis was seen in 33 cases (34.4%), grade 3 and grade 4 were seen in 10 cases (10.4%). Conclusions In the present study, 34.4% of the IBD patients had mild radiologic changes as endplate sclerosis and 95% had a normal physical examination.

COVID-19 and Rheumatoid Arthritis Crosstalk: Emerging Association, Therapeutic Options and Challenges

Hyperactivation of immune responses resulting in excessive release of pro-inflammatory mediators in alveoli/lung structures is the principal pathological feature of coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The cytokine hyperactivation in COVID-19 appears to be similar to those seen in rheumatoid arthritis (RA), an autoimmune disease. Emerging evidence conferred the severity and risk of COVID-19 to RA patients. Amid the evidence of musculoskeletal manifestations involving immune-inflammation-dependent mechanisms and cases of arthralgia and/or myalgia in COVID-19, crosstalk between COVID-19 and RA is often debated. The present article sheds light on the pathological crosstalk between COVID-19 and RA, the risk of RA patients in acquiring SARS-CoV-2 infection, and the aspects of SARS-CoV-2 infection in RA development. We also conferred whether RA can exacerbate COVID-19 outcomes based on available clinical readouts. The mechanistic overlapping in immune-inflammatory features in both COVID-19 and RA was discussed. We showed the emerging links of angiotensin-converting enzyme (ACE)-dependent and macrophage-mediated pathways in both diseases. Moreover, a detailed review of immediate challenges and key recommendations for anti-rheumatic drugs in the COVID-19 setting was presented for better clinical monitoring and management of RA patients. Taken together, the present article summarizes available knowledge on the emerging COVID-19 and RA crosstalk and their mechanistic overlaps, challenges, and therapeutic options.

The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management

Purpose of Review Marfan syndrome (MFS) is an autosomal dominant heritable disorder of fibrillin-1 (FBN1) with predominantly ocular, cardiovascular, and musculoskeletal manifestations that has a population prevalence of approximately 1 in 5–10,000 (Chiu et al. Mayo Clin Proc. 89(1):34–42, 146, Dietz 3, Loeys et al. J Med Genet. 47(7):476–85, 4). Recent Findings The vascular complications of MFS still pose the greatest threat, but effective management options, such as regular cardiac monitoring and elective surgical intervention, have reduced the risk of life-threatening cardiovascular events, such as aortic dissection. Although cardiovascular morbidity and mortality remains high, these improvements in cardiovascular management have extended the life expectancy of those with MFS by perhaps 30–50 years from an estimated mean of 32 years in 1972 (Dietz 3, Gott et al. Eur J Cardio-thoracic Surg. 10(3):149–58, 147, Murdoch et al. N Engl J Med. 286(15):804–8, 148). The musculoskeletal manifestations of MFS, which to date have received less attention, can also have a significant impact on the quality of life and are likely to become more important as the age of the Marfan syndrome population increases (Hasan et al. Int J Clin Pract. 61(8):1308–1320, 127). In addition, musculoskeletal manifestations are often critically important in the diagnosis of MFS. Summary Here, we review the main clinically relevant and diagnostically useful musculoskeletal features of MFS, which together contribute to the “systemic features score” (referred to hereafter as systemic score), part of the revised Ghent nosology for MFS. We discuss current treatment strategies and highlight the need for a multidisciplinary approach to diagnosis and management. Finally, we review new pharmacological approaches that may be disease modifying and could help to improve the outcome for individuals with this syndrome.