Distinct clinical outcomes linked to peripheral arthritis and dactylitis in axial spondyloarthritis: findings from a retrospective Irish cohort.

INTRODUCTION: Axial spondyloarthritis (AxSpA) is a chronic inflammatory condition primarily affecting the axial skeleton. Peripheral features such as peripheral arthritis (PA) and dactylitis are common in AxSpA disease. This study aimed to investigate the independent impact of these manifestations on patient presentation and disease outcomes within an Irish AxSpA cohort. METHODS: 912 Irish AxSpA patients were analyzed in this study. Disease outcomes in patients with and without peripheral arthritis or dactylitis were compared using univariate and multivariate methods. The prevalence of extra-spinal manifestations was further assessed in relation to AxSpA disease duration. RESULTS: 30.2% of patients reported PA, while 6.6% had dactylitis. PA and dactylitis were strongly linked, with 70% of patients presenting with dactylitis also showing features of PA. Psoriasis was more common in both patients with PA (OR 2.2, P < 0.001) and dactylitis (OR 3.38, P < 0.001). Dactylitis, but not PA was strongly linked to uveitis (OR 2.91, P < 0.001) and inflammatory bowel disease (OR 3.15, P < 0.001), while PA was associated with worse patient functioning and reduced quality of life. PA, but not dactylitis was linked with increased AxSpA disease duration. DISCUSSION: Despite high concurrence of PA and dactylitis in AxSpA patients, each manifestation is independently associated with worse outcomes. While some of these overlapped, several outcomes are specific to either PA or dactylitis. Due to its strong association with uveitis and inflammatory bowel disease, an early presentation of dactylitis may represent a unique subset of patients and serve as a valuable predictive marker for the later onset of these conditions.

Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions.

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.

A Practical Overview of the Articular Manifestations of Systemic Lupus Erythematosus.

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.

Musculoskeletal Manifestations in Patients With Bardet-Biedl Syndrome: A Report of Two Cases.

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.

Musculoskeletal manifestations in type-2 diabetic patients attending a tertiary care hospital in a North-Eastern city of India-A cross-sectional observational study.

Background: 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. Methods: 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. Results: 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. Conclusion: Physicians treating diabetic patients should be encouraged for regular examination for musculoskeletal complaints. Early diagnosis will facilitate appropriate treatment and thus prevents further complications.

Clinico-pathological phenotypes of systemic sclerosis-associated myopathy: analysis of a large multicentre cohort.

OBJECTIVE: The objective of this study was to analyse the clinico-serological and histological phenotypes of patients with SSc with associated myopathy. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.

The Musculoskeletal Manifestations of COVID-19: A Narrative Review Article.

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.

Polymyalgia Rheumatica After ChAdOx1 nCov-19 Vaccine: A Case Report.

Polymyalgia rheumatica (PMR) is an inflammatory rheumatic disease characterized by severe pain and morning stiffness, mainly affecting the shoulder girdle. A 75-year-old woman, previously healthy, received the first dose of ChAdOx1 vaccine and two weeks later started with pain in the shoulder and pelvic girdles and knees of inflammatory characteristics, accompanied by morning stiffness (about one hour), anorexia, asthenia, and activities of daily living (ADL) dependence. She started analgesics and non-steroidal anti-inflammatory drugs (NSAIDs) with no improvement. The symptoms aggravated three days after the second vaccine dose, and she was referred to our center. At observation, she presented shoulder, hip, and knee active range of motion limitation. Blood analysis revealed an Erythrocyte Sedimentation Rate (ESR) of 120mm/h (reference value < 20mm/h) and C-Reactive Protein (CRP) of 80mg/L (reference value < 5mg/L). Ultrasound showed effusion on both shoulders, hips, and knees. The paraneoplastic syndrome was ruled out. She started oral corticosteroids and a rehabilitation program, and a month later, she presented controlled pain, normal analysis, and ADL independence. This case shows symptomatic and analytic features of PRM after the first vaccine dose and aggravation soon after the second. As such, we consider establishing a potential relationship between the inoculation and the development of PRM. A few cases were published reporting a PRM-like syndrome following a COVID-19 vaccine; however, the underlying mechanism and prognosis are still unknown.

Assessment of risk factors in post- COVID-19 patients and its associated musculoskeletal manifestations: A cross-sectional study in India.

Introduction: 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. Methodology: 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. Results: 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. Conclusion: 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.

Shoulder and Upper Back Pain: An Unusual Initial Presentation of Rare Stage IV Small Cell Neuroendocrine Cervical Cancer.

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.

Peripheral primitive neuroectodermal tumor: a case report.

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. CASE PRESENTATION: 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.

Relationship of musculoskeletal diseases with microvascular and macrovascular complications in patients with diabetes in Iran.

BACKGROUND AND AIMS: 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)]. CONCLUSION: 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.

Clinical Features of HIV Arthropathy in Children: A Case Series and Literature Review.

Background: HIV infection has been associated with a non-erosive inflammatory arthritis in children, although few published reports exist. This study describes the clinical, laboratory and imaging features of this noncommunicable disease in a series of HIV-infected children in South Africa. Methods: A database search was conducted to identify HIV-infected children enrolled in a Paediatric Rheumatology service in Cape Town, South Africa between 1 January 2010 and 31 December 2020. Retrospective data were collected from individuals classified with HIV arthropathy, based on a predefined checklist. Demographic, clinical, laboratory, sonographic, therapeutic, and outcomes data were extracted by chart review. Descriptive statistical analysis was performed using R (v4.0.3). Results: Eleven cases of HIV arthropathy were included in the analysis. Cases predominantly presented in older boys with low CD4+ counts. Median age at arthritis onset was 10.3 years (IQR 6.9 - 11.6) and the male-female ratio was 3.0. The median absolute CD4+ count was 389 cells/uL (IQR 322 - 449). The clinical presentation was variable, with both oligoarthritis and polyarthritis being common. Elevated acute phase reactants were the most consistent laboratory feature, with a median ESR of 126 mL/h (IQR 67 - 136) and median CRP of 36 mg/L (IQR 25 - 68). Ultrasonography demonstrated joint effusions and synovial hypertrophy. Response to therapy was slower than has generally been described in adults, with almost all cases requiring more than one immunosuppressive agent. Five children were discharged in established remission after discontinuing immunotherapy, however outcomes data were incomplete for the remaining six cases. Conclusions: In this case series, HIV arthropathy was associated with advanced immunosuppression. Therapeutic modalities included immunomodulators and antiretroviral therapy, which consistently induced disease remission although data were limited by a high rate of attrition. Prospective studies are needed to define and understand this HIV-associated noncommunicable disease.

Manifestaciones Musculoesqueléticas de Neoplasias en Pediatría a propósito de tres Casos Clínicos / Musculoskeletal manifestations of neoplasms in children: three reported cases

Introducción: El dolor musculoesquelético (ME) es un motivo de consulta común en la infancia originado en su mayoría por causas banales. Entre las causas menos frecuentes encontramos las patologías reumatológicas y neoplásicas. Se presentan tres casos clínicos que debutaron con artritis o artralgia en los cuales el diagnóstico final fue neoplásico. Casos clínicos: el primer caso fue una Leucemia Linfoblástica Aguda (LLA) de alto riesgo, el segundo caso fue un sarcoma de Ewing y el tercer caso fue una LLA común. Dos de los casos tuvieron evolución desfavorable con fallecimiento. Revisión de la literatura: Se describen hallazgos que deben hacer sospechar una causa neoplásica tales como el dolor ME desproporcionado, alteraciones en el hemograma, velocidad de eritrosedimentación globular y lactato deshidrogenasa elevados, y radiografía con alteraciones sugerentes. Conclusiones: Frente a un dolor ME en el niño se debe tener presente las causas neoplásicas a pesar de su baja frecuencia dado su mal pronóstico.

Introduction: Musculoskeletal (MS) pain is a common complaint in childhood, usually caused by trivial ailments. Among less frequent causes we may find rheumatological and neoplastic pathologies. We present 3 clinical cases in which a rheumatological cause was initially suspected, as they started out with arthritis or arthralgia, but where the diagnosis was finally a neoplasm. Clinical cases: the first case was a high-risk Acute Lymphoblastic Leukemia (ALL), the second case was a Ewing's sarcoma, and the third case was a common ALL. Two of the cases had unfavourable outcomes and passed away. Literature review: Findings that should make us suspect neoplastic causes are disproportionate MS pain, altered hemogram, elevated erythrocyte sedimentation rate and lactate dehydrogenase, and an x ray with suggestive alterations. Conclusions: When faced with MS pain in children, neoplastic causes must be taken into account despite their low frequency given the poor prognosis associated with the diagnosis.

Predictors of musculoskeletal manifestations in paediatric patients presenting with sickle cell disease at a tertiary teaching hospital in Lusaka, Zambia.

AIMS: Sickle cell disease (SCD) is an autosomal recessive inherited condition that presents with a number of clinical manifestations that include musculoskeletal manifestations (MM). MM may present differently in different individuals and settings and the predictors are not well known. Herein, we aimed at determining the predictors of MM in patients with SCD at the University Teaching Hospital, Lusaka, Zambia. METHODS: An unmatched case-control study was conducted between January and May 2019 in children below the age of 16 years. In all, 57 cases and 114 controls were obtained by systematic sampling method. A structured questionnaire was used to collect data. The different MM were identified, staged, and classified according to the Standard Orthopaedic Classification Systems using radiological and laboratory investigations. The data was entered in Epidata version 3.1 and exported to STATA 15 for analysis. Multiple logistic regression was used to determine predictors and predictive margins were used to determine the probability of MM. RESULTS: The cases were older median age 9.5 (interquartile range (IQR) 7 to 12) years compared to controls 7 (IQR 4 to 11) years; p = 0.003. After multivariate logistic regression, increase in age (adjusted odds ratio (AOR) = 1.2, 95% confidence interval (CI) 1.04 to 1.45; p = 0.043), increase in the frequency of vaso-occlusive crisis (VOC) (AOR = 1.3, 95% CI 1.09 to 1.52; p = 0.009) and increase in percentage of haemoglobin S (HbS) (AOR = 1.18, 95% CI 1.09 to 1.29; p < 0.001) were significant predictors of MM. Predictive margins showed that for a 16-year-old the average probability of having MM would be 51 percentage points higher than that of a two-year-old. CONCLUSION: Increase in age, frequency of VOC, and an increase in the percentage of HbS were significant predictors of MM. These predictors maybe useful to clinicians in determining children who are at risk.Cite this article: Bone Joint Open 2020;1-6:175-181.

An MRI study of immune checkpoint inhibitor-induced musculoskeletal manifestations myofasciitis is the prominent imaging finding.

OBJECTIVE: To assess: (i) the prevalence, and clinical and imaging characteristics of immune checkpoint inhibitor (ICI)-induced musculoskeletal immune-related adverse events (ir-AEs) in a prospective manner and (ii) whether serum levels of cytokines associated with the Th1/Th2/Th17 response are differentially expressed in patients with and without musculoskeletal Ir-AEs. METHODS: All patients treated with ICI who developed musculoskeletal manifestations were referred to the Rheumatology Department, and an MRI of the involved area(s) was performed. RESULTS: During the study period, a total of 130 patients were treated with ICIs. Of these, 10 (7.7%) developed ICI-induced Ir-AEs. The median time from ICI treatment since development of symptoms was 2.5 months. Three different patterns of musculoskeletal manifestations were found: (i) prominent joint involvement (n = 3); (ii) prominent 'periarticular' involvement (n = 4). These patients had diffuse swelling of the hands, feet or knees. MRI depicted mild synovitis with more prominent myositis and/or fasciitis in the surrounding tissues in all cases; (iii) myofasciitis (n = 3). Clinically, these patients presented with pain in the knee(s)/thigh(s), whereas MRI depicted myofasciitis of the surrounding muscles. Patients with musculoskeletal ir-AEs had significantly higher oncologic response rates compared with patients not exhibiting musculoskeletal ir-AEs (50% vs 12.5%, respectively, P = 0.0016). Cytokine levels associated with a Th1/Th2/Th17 response were similar between patients with and without musculoskeletal ir-AEs. Overall, symptoms were mild/moderate and responded well to treatment, with no need for ICI discontinuation. CONCLUSION: In our cohort, ICI-induced musculoskeletal manifestations developed in 7.7% of patients. Imaging evidence of myofasciitis was found in most patients, indicating that the muscle/fascia is more frequently involved than the synovium.

Unusual Presentation of Galactosemia in a Child: Musculoskeletal Manifestations.

Galactosemia is an autosomal recessive inherited disease of galactose metabolism. In this report, a galactosemia case with unusual presentation has been presented. We reported a child boy with galactosemia presented with arthralgia, hands deformity and decreased bone mineral density.

Musculoskeletal manifestations occur predominantly in patients with later-onset familial Mediterranean fever: Data from a multicenter, prospective national cohort study in Japan.

BACKGROUND: We showed previously that Japanese individuals with familial Mediterranean fever (FMF) have a more atypical phenotype compared to endemic areas. The clinical differences between young-onset FMF (YOFMF), adult-onset FMF (AOFMF), and late-onset FMF (LOFMF) in Japan are unclear. METHODS: We enrolled 395 consecutive patients. We defined YOFMF, AOFMF, and LOFMF as the onset of FMF at < 20, 20-39, and ≥ 40 years of age, respectively. We compared clinical manifestations and MEFV mutations patterns among these groups. RESULTS: Median ages at onset were YOFMF 12.5 years (n = 182), AOFMF 28 years (n = 115), and LOFMF 51 years (n = 90). A family history, MEFV mutations in exon 10, and more than two MEFV mutations were significantly more frequent in the earlier-onset groups (p < 0.01, p < 0.0001, and p < 0.001, respectively). In the accompanying manifestations, thoracic and abdominal pain were significantly more frequent in the earlier-onset groups (p < 0.01 and p < 0.0001, respectively), whereas arthritis and myalgia were significantly more frequent in the later-onset groups (p < 0.0001 and p < 0.01, respectively). The multiple logistic regression analysis revealed that the presence of MEFV exon 10 mutations and earlier onset were significantly associated with serositis, whereas the absence of MEFV exon 10 mutations, later onset, and the presence of erysipelas-like erythema were significantly associated with musculoskeletal manifestations. There was no significant between-group difference in the responsiveness to colchicine. CONCLUSIONS: Our results indicate that the later-onset FMF patients had a lower percentage of MEFV mutations in exon 10 and predominantly presented arthritis and myalgia. It is important to distinguish their FMF from other inflammatory diseases.

A case report of melioidosis complicated by infective sacroiliitis in Sri Lanka.

BACKGROUND: Melioidosis is an infection caused by a facultative intracellular Gram-negative bacterium, Burkholderia pseudomallei. It can present as septicemia, localized infection with/without septicemia, asymptomatic infections, ulcers, pneumonia, visceral abscesses, neurological infection, musculoskeletal infections and can involve any organ. CASE PRESENTATION: A 56 year old Sri Lankan diabetic female presented with fever, chills and rigors for 2 weeks. She also had malaise and loss of appetite, but no other features. On examination, she was febrile (temperature was 101.4 0 F) and rest of the examination was unremarkable. Her blood culture was positive for Burkholderia pseudomallei and she was started on IV antibiotics, on day 3. During her 2nd week of hospital stay, she developed right sided low back pain with buttock pain, right hip joint pain and restricted hip joint movements suggestive of right sacroiliitis. CE CT and MRI scans confirmed the diagnosis of right iliopsoas abscesses and right sacroiliitis.Incision and drainage was performed and a pigtail catheter was left in place for continuous drainage of abscesses. Her intensive phase was initiated with IV ceftazidime 2 g every 6 h for 12 days, then changed over to IV meropenem 2 g every 8 h together with oral co-trimoxazole. 2 weeks later, oral co-trimoxazole was replaced by oral doxycycline for another 6 weeks (due to transient pancytopaenia). She made a complete and uneventful recovery with oral co-trimoxazole for another 6 months, in her eradication phase.We report this case to show the importance in early diagnosis of melioidosis, and to consider it in the differential diagnosis of multiple abscesses and to emphasize the importance in suspecting melioidosis as a causative agent in infective sacroiliitis. DISCUSSION: Melioidosis can have 2 major presentations; acute infection (symptoms lasting less than 2 months) and chronic infection (symptoms lasting more than 2 months). Musculoskeletal melioidosis is a well-recognized manifestation of the disease, which can manifest as soft tissue abscesses, septic arthritis, spondylitis, sacroiliitis and osteomyelitis.Management of melioidosis consists of 2 phases. The intensive phase and the eradication phase. These are aimed at the importance of rapidly treating the septicemia, the need of eradication of the persistent disease and the prevention of recurrent infections or relapses. The intensive phase consists of minimum 10-14 days of IV antibiotics: IV ceftazidime or IV carbapenem (meropenem/ imipenem). Eradication phase should be followed by 3-6 months of oral co-trimoxazole alone or in combination with oral doxycycline/ oral amoxiciliin-clavulanic acid.