ECG Changes Through Immunosuppressive Therapy Indicate Cardiac Abnormality in Anti-MDA5 Antibody-Positive Clinically Amyopathic Dermatomyositis

Anti-melanoma differentiation-associated gene 5 (MDA5) antibody, a dermatomyositis (DM)-specific antibody, is strongly associated with interstitial lung disease (ILD). Patients with idiopathic inflammatory myopathy (IIM) who are anti-MDA5 antibody positive [anti-MDA5 (+)] often experience chest symptoms during the active disease phase. These symptoms are primarily explained by respiratory failure; nevertheless, cardiac involvement can also be symptomatic. Thus, the aim of this study was to investigate cardiac involvement in anti-MDA5 (+) DM. A total of 63 patients with IIM who underwent electrocardiography (ECG) and ultrasound cardiography (UCG) during the active disease phase from 2016 to 2021 [anti-MDA5 (+) group, n = 21; anti-MDA5-negative (-) group, n = 42] were enrolled in the study, and their clinical charts were retrospectively reviewed. The ECG and UCG findings were compared between the anti-MDA5 (+) and anti-MDA5 (-) groups. All anti-MDA5 (+) patients had DM with ILD. The anti-MDA5 (+) group showed more frequent skin ulcerations and lower levels of leukocytes, muscle enzymes, and electrolytes (Na, K, Cl, and Ca) than the anti-MDA5 (-) group. According to the ECG findings obtained during the active disease phase, the T wave amplitudes were significantly lower for the anti-MDA5 (+) group than for the anti-MDA5 (-) group (I, II, and V4–6 lead; p < 0.01; aVF and V3, p < 0.05). However, the lower amplitudes were restored during the remission phase. Except for the E wave, A wave and Sep e’, the UCG results showed no significant differences between the groups. Four patients with anti-MDA5 (+) DM had many leads with lower T wave and cardiac abnormalities (heart failure, diastolic dysfunction, myocarditis) on and after admission. Though anti-MDA5 (+) patients clinically improved after immunosuppressive therapy, some of their ECG findings did not fully recover in remission phase. In conclusion, anti-MDA5 (+) DM appears to show cardiac involvement (electrical activity and function) during the active phase. Further studies are necessary to clarify the actual cardiac condition and mechanism of these findings in patients with anti-MDA5 (+) DM.

Paraneoplastic dermatomyositis revealing undifferentiated nasopharyngeal carcinoma at early stage: a case report

Context Dermatomyositis is a rare autoimmune disease characterized by noninfectious inflammatory damage of skin and predominant muscles in the belts. It is believed to be associated with about 1 in 1000 cases of nasopharyngeal carcinoma. This association has been described for locally advanced stages II and III nasopharyngeal carcinoma. It has rarely been described in the early stages (stage I). Case presentation A 65-year-old Moroccan patient residing in Casablanca, with no particular history was referred to the Mohamed VI Center for the treatment of cancers of the University Hospital Center IBN ROCHD in Casablanca, for treatment of nasopharyngeal cancer. He was admitted in poor general condition, performance status 3, with erythema on the face, neck, and extremities. The diagnosis of paraneoplastic dermatomyositis was made owing to progressive muscle weakness and elevation of muscle enzymes associated with the typical rash of the face and hands. He received corticosteroid therapy and then radiotherapy to the nasopharynx with good clinical outcome, disappearance of skin lesions, and recovery of muscle strength. Conclusions We report this case of dermatomyositis in early-stage nasopharyngeal carcinoma, which is a rarely described entity. Rapid treatment of dermatomyositis improved the patient’s quality of life and enabled him to support specific cancer treatments. This can be used as an element of early diagnosis and monitoring after treatment.

COVID-19 Infection Manifesting with Lumbar Spondylodiscitis Complicating With Psoas Abscess without Pneumonia

Extrapulmonary manifestations of COVID-19 (Coronavirus disease 2019) are increasingly recognized. Secondary spinal infections are dangerous complications reported in a few cases in the literature. However, to our knowledge, there is no reported case of a severe spondylodiscitis (SD) complicated with a large psoas abscess in a COVID-19 patient. We would like to report a 43-year-old male patient living in central Anatolia and dealing with farming who presented to the hospital with a complaint of severe back pain. The patient who was given oral treatment with analgesic, anti-inflammatory, and myorelaxant agents was readmitted with increased complaints. His nasopharyngeal swab was positive for COVID-19 without pneumonia on chest computed tomography (CT). He spent the quarantine and treatment period at home but was admitted to our outpatient clinic with a wheelchair with increased complaints and right leg pain preventing daily activities. The control nasopharyngeal swab was negative for COVID-19 but further increase in C-reactive protein (CRP) (152,8 mg/L) and creatine kinase (CK) level (549 IU/L) were revealed. Lumbar magnetic resonance imaging (MRI) showed SD in the L3-L4 level along with right-sided prevertebral inflammatory soft tissue and a large right psoas muscle abscess. Pyogenic lumbar SD complicated with the right psoas abscess in the setting of COVID-19 was considered and antibacterial treatment was started following hospitalization. On the same day, percutaneous aspiration from the psoas abscess under CT guidance was performed and revealed no growth in the culture. After 3 weeks, follow-up MRI showed worsening of all the bone, soft tissue and disc findings. Myalgia is a common manifestation in viral infections, which was also demonstrated in COVID-19 patients, with possible increase in muscle enzymes. Secondary spinal infections and its soft-tissue complications should be considered in the management of COVID-19 patients with neuromuscular symptoms, and detailed neurological and neurosurgical evaluation should be performed in order to avoid progression and permanent damage.

Clues to Disease Activity in Juvenile Dermatomyositis: Neopterin and Other Biomarkers

Easily accessible biomarkers are urgently needed to evaluate immune activation in Juvenile Dermatomyositis (JDM). The goal of this retrospective study is to define immunological and clinical differences between untreated JDM patients with either normal or elevated (>10 mmol/L) levels of neopterin, a biomarker of macrophage activation. We included all JDM with neopterin data obtained before initiating medical therapy. We assessed T, B, NK cell populations, muscle enzymes, and disease activity scores for skin (sDAS), muscle (mDAS), total (tDAS), the duration of untreated disease, disease course, and myositis-specific antibody (MSA). Seventy-nine percent of 139 untreated JDM patients had elevated serum neopterin. The group with elevated neopterin had significantly more active disease: tDAS 11.9 vs. 8.1 (p < 0.0001), mDAS 5.8 vs. 3.1 (p < 0.0001), sDAS 6.1 vs. 4.9 (p = 0.0002), aldolase 24.0 vs. 7.6 U/L (p < 0.0001), von Willebrand factor antigen (p < 0.0001), and ESR 19.8 vs. 11.5 mm/hr (p = 0.01). The flow cytometry documented both reduced T cells (1494 vs. 2278/mm3, p = 0.008) and NK cells (145 vs. 240/mm3, p = 0.003). TNFα-308AA/AG polymorphism was more common in children with elevated neopterin than TNFα-308GG (p 0.05). We conclude that the availability of neopterin data will contribute to the rapid assessment of untreated JDM disease activity.

Innovative Blood Antioxidant Test in Standardbred Trotter Horses

In athletic horses, prolonged and intense training gives rise to an imbalance between the production of free radicals and antioxidant molecules, leading to oxidative stress. Considering the relation between exercise and oxidative stress in horses, the present work aims to validate the Kit Radicaux Libres (KRL) test as a tool to verify the influence of taming, training and racing on the total blood antioxidant activity and some haematochemical parameters. Five Italian Standardbred racehorses (two males and three females, aged 12 ± 1 months) from the same training center were selected and monitored upon arrival and during the following year until the racing season. Blood samples were obtained at different timepoints, corresponding to different steps of training. The data showed that KRL values were higher (p < 0.001) before the beginning of the taming period and at 60 days of taming, compared with the training and racing periods; additionally, the total protein value was affected by the training program, whereas no effects of training on muscle enzymes were detected. These results confirm that exercise plays a role in the production of free radicals and show that the KRL test may represent a valid method to determine oxidative stress in athletic horses.

Thymoma may explain the confusion: a case report

Background The association of inflammatory myopathy and myasthenia gravis is a rarely described entity whose clinical presentation has always been intriguing because of the great clinical similarity between these two pathologies. The presence of a thymic pathology often explains this combination, whose mechanisms are very complex. Case presentation A 56-year-old woman of North African origin, was hospitalized to explore the Raynaud phenomenon associated with proximal muscle weakness, pain, and arthralgia. There was no rash, and neuromuscular examination had revealed proximal tetraparesis and mild neck weakness. Tendon reflexes were normal. There was no abnormal nail fold capillaroscopy. A significant titer of muscle enzymes had been shown on blood tests, and autoimmune screening for myositis-specific and myositis-associated autoantibodies was negative. Electromyography had shown a myopathic pattern, and muscle biopsy confirmed an inflammatory myopathy. Although steroids were introduced, the clinical course was unsatisfactory; ophthalmic and bulbar symptomatology appeared. The association of myasthenia gravis was confirmed by an elevated level of serum acetylcholine receptor. A chest computed tomography scan had identified a thymoma. Treated with prednisone, pyridostigmine, and thymectomy, the patient’s clinical and biological evolution was favorable. Conclusion This case illustrates an exceptional association of two entities and the difficulty encountered during their diagnosis and treatment. The management of these two diseases is different, so it is essential to recognize this concomitant presentation.

A Case of Paget’s Disease of Bone Associated with Hypomyopathic Dermatomyositis

Dermatomyositis is associated with malignancies and is known to have systemic involvement. However, associations with bone diseases have not been well described in the current literature. This article describes the second reported case of the co-existence of dermatomyositis and Paget’s Disease of Bone (PDB), but is the first report to describe such co-existence in a specific subtype of dermatomyositis – hypomyopathic dermatomyositis. Our patient was a 51-year-old woman who presented with prolonged fever, myalgia, morning stiffness, and rashes pathognomonic of dermatomyositis. There was no muscle weakness clinically, although muscle enzymes were raised and electromyogram revealed myopathic changes. Further imaging showed the incidental finding of a T11 vertebral bone lesion, of which biopsy confirmed the diagnosis of PDB. Our report illustrates the diagnostic approach to bone lesions in patients with dermatomyositis, and takes a closer look at the pathophysiology and management implications of the co-occurrence of these two rare diseases.

Sickle Cell Disease with Dermatomyositis - a Rare and Complex Comorbidity

Introduction and Case Presentation - A 4 yrs old female with sickle cell disease (SCD) and intermittent asthma presented with polyarthralgia predominantly involving bilateral hip and knee joints and became non-ambulatory over a course of 2 months. She developed chronic facial swelling, and a pruritic erythematous rash involving face, extensor surface of the hand and the right knee with significant weight loss. Physical examination was significant for heliotropic rash on the eyelids, Also present were Gottron's papules and macules on both hands and right knee along with right leg tenderness, muscle weakness, wasting and decreased range of motion at bilateral hip joints along with inguinal lymphadenopathy. Investigations were significant for severe anemia with hyperactive bone marrow, metabolic acidosis, normonatremic dehydration with absence of any evidence of an ongoing infectious process. Her Anti Nucleic acid antibody (ANA) panel, Aldolase, Rheumatoid factor and Angiotensin-1-Converting Enzyme levels were unremarkable. Creatine kinase levels were near normal. Her Neopterin and LDH levels were significantly elevated. Imaging with MRI scan with multiplanar multisequence of bilateral lower extremities and Pelvis showed significant diffuse myositis and soft tissue swelling. The diagnostic criterion for Juvenile Dermatomyositis include: (1) the typical pathognomonic rashes, (2) elevated muscle enzymes, (3) symmetric proximal muscle weakness and neck flexors, (4) muscle biopsy characteristic of juvenile dermatomyositis, and (5) EMG findings characteristic of juvenile dermatomyositis. Having ruled out an infectious process a muscle biopsy was performed, which also was subjected to Electron Microscopic (EM) analysis as the patient did not have extremely high muscle enzymes, necessitating a muscle biopsy . Hematoxylin & eosin stained sections were compatible with inflammatory myopathy. Ultrastructural examination demonstrated myofiber size variability, frequent rounded atrophic fibers with myofibrillar disarray, internalized nuclei, and increased interstitial collagen deposition. Endomysial capillaries were decreased in number, but showed reactive endothelial changes. Some showed prominent endothelial tubuloreticular inclusions (Figure),characteristic of JD. In summary, absence of serologic and tissue evidence of any other inflammatory myopathy, offending pharmacotherapy, infectious disease and presence of imaging and tissue evidence (vascular injury and tubuloreticular inclusions) comprised the work up of a child with SCD with Dermatomyositis. Management- Prompt treatment with prednisone (2 mg/kg/day), methotrexate (10 mg) weekly and monthly IVIG (2gm/kg/dose) infusions was started, once diagnosis was confirmed showing a dramatic clinical response. Prednisone was slowly tapered after 1 month of treatment. She showed gradual improvement in her symptoms, the strength in proximal muscle in both upper and lower limbs improved eventually to a point where the contractures in the elbows and knees improved and she started ambulating without support. Patient's Hydroxyurea was restarted at a low dose of 15mg/kg/day and increased to 20 mg/kg/day slowly, as her systemic symptoms of Dermatomyositis subsided. Discussion- Working up a child with SCD who presents with sudden onset non weight bearing can be complicated. Vaso-occlusive bony pain crisis , Osteomyelitis , septic arthritis are common clinical scenarios, but an underlying rheumatologic illness in pediatric SCD patient mimicking a sickle cell pain crisis presents a unique diagnostic challenge one which, albeit has been reported in literature, but rarely includes electron microscopic ultrastructural examination as part of evidence and work up. This patient's relatively mild muscle enzyme elevation and Hydroxyurea therapy made the initial diagnosis more challenging. We present the first pediatric SCD patient with clinically and pathologically proven case of Dermatomyositis with EM evidence, highlighting a unique clinical scenario ,diagnostic challenges and management strategies. Figure 1 Figure 1. Disclosures Jain: Octapharma: Consultancy; CSL Behring: Consultancy, Speakers Bureau; GBT: Consultancy; Blue Bird Bio: Consultancy; Takeda: Consultancy, Speakers Bureau.

The role of selenium and vitamin E in a Transylvanian enzootic equine recurrent rhabdomyolysis syndrome

A severe form of recurrent exertional rhabdomyolysis occurs enzootically in a well-defined region of Transylvania, Harghita county. At the highest lying two settlements (more than 800 m above sea level), the prevalence of equine rhabdomyolysis is between 17 and 23%, while in the neighbouring villages in the valley it is less than 2%. The objective of our study was to clarify the role of selenium and vitamin E in the high prevalence of rhabdomyolysis in that region. Soil and hay samples were collected from each area to evaluate mineral content. Ten horses from the non-affected and 20 horses from the affected area were tested for serum selenium, vitamin E, glutathione peroxidase (GSH-Px), muscle enzymes, lactate and electrolytes. Hay samples collected from the affected area had lower selenium content. Horses in the affected regions had significantly lower serum selenium (P = 0.006) and GSH-Px levels than animals living in the non-affected regions. A good correlation between erythrocyte GSH-Px and serum selenium concentration could be demonstrated (r = 0.777, P < 0.001). Serum vitamin E levels were low independently of the origin of the horse. Based on our results, selenium deficiency possibly has a role in the Transylvanian enzootic equine recurrent rhabdomyolysis syndrome.

Mechanic’s hand; is it a prodromic sign of disease relapse of anti-synthetase syndrome; a case report

Background Anti-synthetase syndrome is the collection of myositis and/or interstitial lung disease with the presence of various antibodies directed against an aminoacyl transfer RNA synthetase. Anti Jo − 1 antibody is the commonest of these antibodies and its presence is characteristically associated with the dermatological manifestation of mechanic’s hands. However, in the absence of other features, whether the presence of mechanic’s hands could be considered as a prodromic sign of disease relapse is not proven. We would like to present a patient who developed mechanic’s hands and subsequently went on to have recurrence in her myositis. Case presentation A 45-year-old female initially presented with a progressive proximal muscle weakness. Her muscle enzymes were elevated, EMG and biopsy were also in keeping with an inflammatory myositis. Subsequently she was found to have an interstitial lung disease with a non-specific interstitial pneumonitis pattern radiologically. Her anti Jo-1 was positive. However, she did not have any dermatological manifestations at the time. With immunosuppressive therapy she achieved remission which lasted for about 2 years. Then she developed fissuring and cracking of the palms and fingers suggestive of mechanic’s hands without any muscle pain, weakness and elevation of muscle enzymes. A few months later she did develop muscle pain, weakness and elevation of muscle enzymes heralding a disease relapse. Conclusion The presence of mechanic’s hands without other features should be considered as a prodromic sign of disease relapse.