Mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome) is a rare autosomal recessive lysosomal storage disease (LSD) caused by deficiency of a hydrolase enzyme, N-acetylgalactosamine-6-sulfate sulfatase, and characterized clinically by mainly musculoskeletal manifestations. The mechanisms underlying bone involvement in humans are typically explored using invasive techniques such as bone biopsy, which complicates analysis in humans. We compared bone proteomes using DDA and SWATH-MS in wild-type and MPS IVA knockout mice (UNT) to obtain mechanistic information about the disease. Our findings reveal over 1000 dysregulated proteins in knockout mice, including those implicated in oxidative phosphorylation, oxidative stress (reactive oxygen species), DNA damage, and iron transport, and suggest that lactate dehydrogenase may constitute a useful prognostic and follow-up biomarker. Identifying biomarkers that reflect MPS IVA clinical course, severity, and progression have important implications for disease management.

Although it is widely known that joint involvement is the most frequent and prevalent manifestation of systemic lupus erythematosus (SLE), not having a validated organ-specific index for this domain in order to guide its treatment has been a major limitation. In addition, its clinical importance had been underestimated since it was not a vital risk domain; it was never the center of treatment, under the premise that in most cases its progression was slow and did not lead to significant functional disability. However, this concept has been changing due to the greater description of erosions both in ultrasonography and in osteoarticular magnetic resonance, so their identification can establish a more appropriate treatment time and thus avoid joint deformities, which in some cases can become irreversible. Recently, anifrolumab and belimumab have been able to significantly reduce the Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K) and British Isles Lupus Assessment Group (BILAG) index scores, along with improvement in quality of life indices and a significant decrease in the required dose of glucocorticoids. Despite this, the ideal moment to consider biological therapy in this domain is not clear, since the clinical examination can sometimes be biased by the pain associated with fibromyalgia or the fatigue associated with SLE. For this reason, perhaps ultrasonography or magnetic resonance imaging, apart from differentiating the joint phenotype, can identify patients in time to define the onset of disease-modifying antirheumatic drugs and rationalize the use of glucocorticoids. The objective of this review is to characterize in detail the joint manifestations of SLE to offer the clinician a practical view of its diagnosis and treatment.

We report two patients with musculoskeletal manifestations as part of the Bardet-Biedl syndrome. The first patient (case 1) was born with polydactyly and later diagnosed with coxa vara. He had homozygous pathogenic mutation in the BBS1 gene of the variant c.1645G>T (p.Glu459*). The second patient (case 2) had nyctalopia and progressive vision worsening had osteoarthritis symptoms. He had a heterozygous mutation in the BBS1 gene of the variant c.1169T>G (p.Met390Arg). Although polydactyly is the most prevalent musculoskeletal association in patients with the syndrome, co-management of the musculoskeletal manifestations remains of utmost importance in patients with the syndrome.

UNASSIGNED: Musculoskeletal manifestations of diabetes are common and not life threatening, but these are an important cause of morbidity, pain and disability among diabetic patients. In 2004, the National Health Interview Survey determined that 58% of diabetic patients would have musculoskeletal functional disability. This study was designed to estimate the proportion of musculoskeletal manifestations among Type 2 diabetic patients attending a tertiary care hospital in Tripura and also to determine the association of various musculoskeletal manifestations with glycaemic status, body mass index and duration of diabetes mellitus.
UNASSIGNED: This hospital-based cross-sectional study was carried out in a tertiary care hospital in a northeastern state of India from December 2020 to November 2021. All the diabetic patients attending diabetes nutrition clinic of a tertiary care hospital for a period of one year were considered for this study. Diagnosis of musculoskeletal disorder was made based on history, physical examination, laboratory test and imaging test. Quantitative data were expressed as mean and standard deviation. Descriptive data was expressed in percentages and frequencies using charts and tables. Chi-square test was applied to explore any association between variables. Ethical approval for the study was obtained from the institutional ethics committee.
UNASSIGNED: Out of four hundred and forty-two diabetic cases and two hundred and thirty-four (52.9%) patients were found with musculoskeletal manifestations, 55% of which belong to 45-59 age group.
UNASSIGNED: Physicians treating diabetic patients should be encouraged for regular examination for musculoskeletal complaints. Early diagnosis will facilitate appropriate treatment and thus prevents further complications.

The coronavirus pandemic has caused a devastating impact across the planet. Millions of lives lost and economic structures are struggling to remain afloat. Clinical effects of SARS CoV-2 virus include tiredness, fatigue, headache, cough, loss of appetite, fever, loss of sensations of taste, and smell as well as other respiratory difficulties. Pulmonary complications of coronavirus infections result in severe pneumonia with the final sequelae being sepsis, and end-stage respiratory failure. Further cardiovascular, neurological, hematological, and gastrointestinal complications build up to cause the demise of the immune system ultimately leading to death of the affected individual. The attack of the virus and the resultant reaction of the epithelial cells lining the respiratory tract have been in the limelight of most studies pertaining to the pandemic. However, a lesser number of studies have detailed the muscular and osseous pathologies that appear post-coronavirus infection. Inflammation post-infection, across the organ systems, may appear as a link to bone and joint pathology. Myalgia is a typical COVID-19 infection symptom. On the contrary, other musculoskeletal signs have very seldom been reported. Multimodality imaging techniques stand a chance at showing the diagnosis and the degree of follow-up after evaluation. Apart from myalgia, there are cases of arthralgia, myopathies, and neuropathies. According to numerous reports, there is the possibility of a link between the current drug regimen used to treat the SARS-CoV-2 infection and the musculoskeletal manifestations observed. In this study, we aim to shed light on the coronavirus pandemic and its association to various musculoskeletal manifestations, provide a different perspective of the infected patients, and address the major points that a clinician must take care while administering care to the patient. We will also address the present treatment in line with the various musculoskeletal symptoms observed.

UNASSIGNED: Musculoskeletal manifestations of COVID-19, post COVID-19, and post COVID-19 vaccination include arthralgia, myalgia, new-onset backache, fatigue, inflammatory arthritis either symmetrical or polyarticular, reactive arthritis, osteoporosis, osteonecrosis of the femoral head, neuropathies, myositis, and myopathies. Almost 15% and 44% of post-COVID-19 patients reported arthralgia and myalgia. We aim to analyze the musculoskeletal manifestations of COVID-19 infection and the factors determining their severity.
UNASSIGNED: This is a retrospective multicentric cross-sectional study conducted from all the four regions (northern, southern, eastern, and western regions) in India. The recruitment period was from June 1st, 2021, to September 30th, 2021. All patients with COVID-19 positivity in the past were classified into three groups (mild, moderate, and severe). The primary outcome is to find the correlation of musculoskeletal symptoms with disease positivity, severity, and demographic variables. We focused at clinical characteristics and symptoms at the time of admission, as well as comorbidities, laboratory findings, immunological findings, treatments, and outcomes.
UNASSIGNED: The study was conducted among 2334 subjects across all the regions of India. Out of which 719 were COVID-19 positive individuals. Non-vaccinated were about 62.6% compared to 37.4% vaccinated among COVID-19 positive individuals. The total average musculoskeletal scores calculated were about 15.94 ± 54.86. MSK scores were significantly higher (p < 0.001) among males, uneducated, those with co-morbidities, and non-vaccinated individuals. Multivariate regression analysis showed a 1.63 times higher risk of having COVID-19 infection among smokers, those who don\'t exercise regularly are 1.25 times at risk of having COVID-19 infection. Similarly, those who have comorbidities are 1.93 times at risk of having COVID-19 infection. Non-vaccinated individuals were 2.33 times at risk of having COVID-19 infection.
UNASSIGNED: Factors such as male sex, non-vaccination, and associated co-morbidities increased the risk of developing severe MSK manifestations upon infection with COVID-19 and needs extended monitoring to control the morbidity due to the same.

The objective of this study was to analyse the clinico-serological and histological phenotypes of patients with SSc with associated myopathy.
From November 2002 to September 2020, 52 patients with SSc underwent a muscle biopsy for suspected myopathy. We established two subgroups according to the histological findings based on the presence of isolated fibrosis or fibrosis together with significant inflammation. These patterns were designated as fibrosing and inflammatory, respectively. Clinical data, antibody profile, electrophysiologic studies, muscle biopsy findings and data regarding treatment, mortality and survival were compared between the two groups.
Fourteen biopsies had a fibrosing pattern, whereas 26 showed an inflammatory pattern that could be classified (according to the predominant pattern) into DM (n = 7), necrotizing myopathy (n = 4) and non-specific myositis (n = 15). Additionally, 12 muscle biopsies were reported as neurogenic atrophy (n = 2), or normal muscle or minimal changes (n = 10). Compared with the inflammatory group, SSc patients with the fibrosing pattern presented a higher prevalence of ischaemic heart disease (38.5% vs 3.8%, P = 0.011), conduction abnormalities or arrhythmias (61.5% vs 26.9%, P = 0.036), anti-topo I antibodies (42.9% vs 11.5%, P = 0.044), greater median ESR (53.5 mm/h vs 32.5 mm/h, P = 0.013), with poor response to treatment and a higher mortality (42.9% vs 3.8%, P = 0.004) and lower cumulative survival (P = 0.035).
Patients with SSc-associated myopathy require a comprehensive approach that encompasses clinical, serological and histopathological aspects, given their outcome predictive capacity. At least two different phenotypes can be drawn, considering clinico-pathological features. Significant differences are delineated between both a fibrotic and an inflammatory phenotype.

While musculoskeletal pain is cited as the primary cause of disability and reason for visiting the emergency department in the United States, secondary etiologies should be considered. In this case report, we are reporting a unique case of a 38-year-old multiparous healthy female who presented to multiple emergency departments with fleeting pain on the shoulders and upper back. She was diagnosed with muscle spasms and joint arthritis and discharged home multiple times. The patient then developed vaginal bleeding, belt-line numbness, and was found to have T6 spinal cord compression. Imaging prompted workup for malignancy, which revealed small cell neuroendocrine cervical cancer (SCNECC) with metastasis to intra-abdominal lymph nodes, bone, and brain. SCNECC is very rare, aggressive, occurs in less than 3% of cervical cancers, and does not have established treatment guidelines. Because it is commonly misdiagnosed and has an overall poor prognosis, SCNECC can be missed if it is not part of the differential.

BACKGROUND: Primitive neuroectodermal tumors are extremely rare and highly aggressive malignant small round cell tumors that arise from the primitive nerve cells of the nervous system or outside it. These tumors share similar histology, immunohistologic characteristics, and cytogenetics with Ewing\'s sarcoma. Peripheral primitive neuroectodermal tumors of the chest wall are rare malignant tumors seen in children and young adults.
METHODS: We report a rare case of peripheral primitive neuroectodermal tumor in a 4-year-old Albanian girl with a mediastinal tumor and an unusual clinical presentation. She was initially treated for acute polyradiculoneuritis (Guillain-Barré syndrome) owing to pain, weakness in the lower limbs, and walking difficulty, as well as severe irritability. During the second week of treatment, the child began to experience dry cough, chest discomfort, and worsening dyspnea. Chest radiography, chest computed tomography, and contrast-enhanced computed tomography demonstrated a large mass in the right hemithorax that was derived from the posterior mediastinum with expansive growth in all directions and that shifted the mediastinal structures in the anterolateral left direction. Consequently, histopathology and immunohistochemical examination of the markers S-100, CD99, and Ki-67 showed that the tumor cells stained positively for S-100 and CD99. The proliferative index measured by Ki-67 was approximately 20%, which suggested primitive neuroectodermal tumor.
CONCLUSIONS: Even though other diseases, including leukemia, lymphoma, and neuroblastoma, may be accompanied by musculoskeletal manifestations in children, other solid tumors, such as peripheral primitive neuroectodermal tumors, should be considered in the differential diagnosis in any child presenting with musculoskeletal symptoms.

OBJECTIVE: Musculoskeletal manifestations (carpal tunnel syndrome, Dupuytren\'s contracture, etc.) may occur in poorly controlled and longstanding diabetes. In this study, we evaluated the relationship of musculoskeletal diseases with microvascular and macrovascular complicationsin patients with diabetes.
METHODS: A total of 600 patients with diabetes were enrolled in this cross-sectional study. Demographic data and historical records of the patients were retrieved. Musculoskeletal diseases were assessed by clinical examinations and then confirmed by a rheumatologist.
RESULTS: Out of the 600 patients with diabetes, 61.5% (369/600) were female and 38.5% (231/600) were male. Diabetic retinopathy, diabetic nephropathy, diabetic peripheral neuropathy, CVA, and diabetes related ischemic heart disease were rated as 43.1%, 33.2%, 7.8%, 7.5%, and 39.6%, respectively. Significant gender differences were observed in the rates of diabetic nephropathy [56.28% for women and 43.71% for men (p value < 0.000)], diabetic peripheral neuropathy [72.34% for women and 27.65% for men (p value < 0.002)], and ischemic heart disease [57.98% for women and 42.01% for men(p value < 0.001)].
CONCLUSIONS: Musculoskeletal diseases usually occur in patients with poorly controlled and long-term diabetes. Due to the clear association of microvascular complications with musculoskeletal disease, more attention should be paid to the early detection of these complications in patients with diabetes.