UNASSIGNED: Nemaline rod myopathy (NRM) is a rare muscle disorder defined by muscle weakness, respiratory insufficiency, and dysphagia. Respiratory muscle involvement can lead to acute hypercapnic respiratory failure, posing significant challenges in management.
UNASSIGNED: Our patient is a 73-year-old male with a history of polymyositis, who presented with acute hypercapnic respiratory failure secondary to a suspected polymyositis flare. Despite initial management, the patient experienced complications, including dysphagia, thrombocytopenia, and altered mental status. Neurological consultations revealed conflicting opinions regarding the primary diagnosis, suggesting inclusion body myositis. The patient\'s condition continued to deteriorate, prompting discussions about prognosis and palliative care options. This case highlights the challenges in managing respiratory failure in patients with late-onset nemaline myopathy and the importance of multidisciplinary care in addressing complex medical needs.
UNASSIGNED: This case emphasises the complexity of managing respiratory failure in patients with late-onset nemaline myopathy and the significance of adopting a multidisciplinary approach. Timely interventions, including respiratory support, dysphagia management, and palliative care discussions, are vital in optimizing patient care and quality of life. Further research is warranted to elucidate optimal management strategies and improve outcomes in this patient population.

Overlapping autoimmune disorders are used to describe the coexistence of more than one autoimmune disease in the same patient. Mixed connective tissue disease (MCTD) and anti-synthetase syndrome (ASS) are autoimmune diseases that manifest with pulmonary involvement, presenting as persistent dyspnea. The coexistence of both conditions in the same patient is extremely rare. We herein report a case of a 44-year-old female who was diagnosed with MCTD with features of ASS (anti-Jo-1 antibody) in the setting of rheumatoid arthritis (anti-cyclic citrullinated peptide (anti-CCP) antibody), which shows temporary breathing improvement following treatment with corticosteroid and mycophenolate mofetil. However, after the completion of mycophenolate mofetil, she was found to be anti-Jo-1 antibody negative and anti-CCP antibody positive. Our case emphasizes the need to recognize overlapping autoimmune conditions in patients with complex clinical features and presentations with the immediate application of a comprehensive diagnostic approach and tailored treatment strategies. Early diagnosis and aggressive treatment are crucial for achieving remission and preventing organ damage.

UNASSIGNED: Dermatomyositis (DM), sometimes referred to as inflammatory and degenerative changes in the skin and muscles, is a rare autoimmune disorder. DM is distinguished by myopathic disease, symmetrical proximal muscle weakness, and increased creatine kinase (CK).
UNASSIGNED: A 30-year-old-female presented to the department of dermatology with a history of chronic right hand pain spreading to the shoulder, severe tachycardia, and dyspenia that increased during routine tasks like using the bathroom. What makes this case unique is that the CPK developed without doubling, and the final concentration was 207 ng/ml. Other common clinical symptoms include amyopathic/hypomyopathic muscle involvement and DM-specific rash (Gottron\'s papules, heliotrope rash), and these manifestations were in our patients. Sun protection, topical treatment with corticosteroids and/or calcineurin inhibitors, and systemic medication should be utilized for all individuals with nonvasculopathic disease. In our case, the patient stopped using azathioprine and began taking methotrexate.
UNASSIGNED: Sun protection, topical therapy with corticosteroids and/or calcineurin inhibitors, and systemic medication should be utilized in layers for all individuals with nonvasculopathic illnesses. Mycophenolat Mofetil is beneficial in treating refractory illnesses as well as individuals with interstitial lung disease or substantial skin disease.
UNASSIGNED: Even if test findings are not conclusive, dermatomyositis should always be considered when muscular weakness manifests. It\'s important to distinguish the disorder from connective tissue diseases like lupus erythematosus. In fact, to correctly diagnose DM, if there are any doubts, a muscle biopsy is required.

OBJECTIVE: To evaluate the effectiveness and safety of upadacitinib in treatment-refractory inflammatory myositis.
METHODS: Patients with refractory inflammatory myositis treated with upadacitinib from a single urban centre in Vancouver, British Columbia, Canada, were included from September 2020 to June 2023. The medical records of these patients were retrospectively reviewed.
RESULTS: 10 total patients were identified for review, including 5 classic dermatomyositis (DM), 3 amyopathic DM (ADM) and 2 antisynthetase syndrome. The patients failed an average of four immunosuppressants before initiation of upadacitinib. Three had prior Janus kinase inhibitor therapy with tofacitinib. In the classic DM and ADM aggregate group, upadacitinib offered clinically and statistically significant cutaneous improvement. Lack of active muscle disease at baseline precluded analysis of the effect of upadacitinib on muscle weakness. Nine patients remained on upadacitinib at the end of the study period. One patient discontinued upadacitinib due to severe facial acne.
CONCLUSIONS: Upadacitinib appears to be effective in targeting cutaneous manifestations of refractory inflammatory DM. Further research is still needed to validate its efficacy on a broader population scale.

Polymyositis is a rare condition with an unknown etiology occurring more frequently in adult women. There is a lack of evidence on the coexistence of PM and CMV infection in a patient with hypothyroidism due to Hashimoto\'s Thyroiditis. However, the growing occurrence of both CMV infection and the simultaneous occurrence of autoimmune diseases points out a relationship, while the association direction remains unclear. Case outline: A 32-year-old woman recently treated for HT hypothyroidism was admitted to the hospital two weeks after being treated for common flu by the family doctor, complaining about a worsening condition with muscle pain, weakness, frequent falls, and fatigue. The first tests showed a normalized thyroid function, with elevated values of troponin and serum creatinine kinase (CK). The immunological tests revealed the presence of a high titer of CMV IgG antibodies and raised levels of CMV DNA. Pelvis MRI images demonstrated markedly elevated signals on the STIR sequences in the pelvis, thighs, and calves, indicating active and severe multifocal myositis. The diagnosis of PM was confirmed with the muscle biopsy on day 7 of hospitalization. The patient showed significant improvements within two weeks after the medical therapy and physiotherapy.

UNASSIGNED: The idiopathic inflammatory myopathies (IIM) are a collection of autoimmune diseases that have a substantial impact on the entire body and include conditions such as dermatomyositis (DM), polymyositis (PM), sporadic inclusion body myositis, and immune-mediated necrotizing myopathy. These disorders are characterized by symptoms such as muscular weakness, pain, and dermal rash. This systematic review is intended to explore the potential link between bladder cancer and DM/PM.
UNASSIGNED: We performed a comprehensive systematic search on PubMed and Scopus until August 2022 to identify relevant research studies. The studies that met our inclusion criteria focused on patients with urinary bladder cancer and dermatomyositis, and/or polymyositis.
UNASSIGNED: The patients\' median age was 65.5 years (47-79), with the majority being male (15, 39.47%). Bladder cancer manifested before PM/DM in 5 (13.15%) patients, while in the majority of cases occurred after the cancer diagnosis. The stage of cancer at the time of the initial PM/DM diagnosis were mostly locally (11/20, 50%).During the first presentation, the patients had a median creatine kinase level of 2227 U/L, ranging between 44 and 10471. In one case, anti-TIF-1γ antibodies were found to be present. Among the cases with reported medical history (20/38), treatment immediately improved DM symptoms in 16 patients(53.8%) and in 3 patients(15%), symptoms of DM resurfaced during the period after the operation. Death was reported in 14 (36.8%) patients.
UNASSIGNED: In conclusion, our study provides knowledge and understanding for identifying specific risk factors in patients with the coexistence of bladder cancer and DM/PM and their management. During the initial and follow-up screening, age, gender, and the clinicopathological subgroup of myositis should be considered to ensure proper management of the condition.

Jellyfish envenomation is a common problem in coastal areas all over the world; usually symptoms are self-limited with no long-lasting complications. Despite that, some jellyfish species, mainly populating the Indian Ocean, are renown to be potentially lethal and in some cases may cause severe myopathy. We report the first case of rhabdomyolysis following a jellyfish sting in the Mediterranean Sea. A 17-year-old patient was admitted to the intensive care unit of our hospital in life-threatening conditions. He was dyspnoeic and dysphagic with pain and functional impairment of upper and lower limbs. The evidence of a red mark in his face and the clinical presentation, coupled with the diagnostic test performed, allowed the diagnosis of toxidrome from jellyfish venom. Treatment with hydration, ventilatory support and steroids led to a progressive improvement of patient conditions. Our case report stresses the importance of prompt identification and treatment of potential rhabdomyolysis determined by jellyfish and rises awareness on the presence of such venomous species in the Mediterranean Sea.

We describe a rare case of concurrent eosinophilic granulomatosis with polyangiitis and mixed connective tissue disease in a 27-year-old man who presented with pulmonary, renal, cardiac, and skin manifestations. We confirmed the diagnosis based on clinical, histopathological, and serological criteria. We treated the patient with corticosteroids, methotrexate, cyclophosphamide, and hydroxychloroquine, achieving early remission. The coexistence of both conditions in the same patient is extremely rare and has only been reported in a few cases worldwide. We also review the literature on these two rare autoimmune diseases\' coexistence, pathogenesis, diagnosis, and management. Our case emphasizes recognizing overlapping autoimmune conditions in patients with complex clinical features and employing a comprehensive diagnostic approach and tailored treatment strategies. Further research is needed to understand these patients\' epidemiology, prognosis, and optimal therapy. Early diagnosis and aggressive immunosuppression are crucial for achieving remission and preventing organ damage. We also identified the knowledge gaps and research needs in this field.

Inflammatory myopathies are a group of diseases whose common pathway is immune-mediated muscle damage, one of which is polymyositis. The definition of polymyositis is controversial, with proponents advocating a definition based on immunohistochemical and histopathological findings in muscle biopsies, while other proponents advocate a definition based on clinical manifestations and histopathological findings. Polymyositis is a quite rare disease that is clinically characterized by progressive proximal muscle weakness with a symmetric distribution. Within the diagnostic approach, laboratory studies show elevation of sarcoplasmic enzymes; nerve conduction tests are performed, which may aid in distinguishing myopathic causes of weakness from neuropathic disorders; and muscle biopsy is considered the gold standard to diagnose inflammatory myopathy and to distinguish the subclasses. We report the case of a 61-year-old male patient who presented generalized symmetrical weakness, predominantly in the upper extremities, and dysphagia, whose laboratory studies, autoantibodies, and muscle biopsy were confirmatory of this entity.

Some myopathies can lead to dropped head or bent spine syndrome (DH/BS). The significance of this symptom has not been studied in inflammatory myopathies (IM).
To assess the significance of DH/BS in patients with IM.
Practitioners from five IM networks were invited to report patients with IM suffering from DH/BS (without other known cause than IM). IM patients without DH/BS, randomly selected in each participating centre, were included as controls at a ratio of 2 to 1.
49 DH/BS-IM patients (DH: 57.1%, BS: 42.9%) were compared with 98 control-IM patients. DH/BS-IM patients were older (65 years vs 53 years, p<0.0001) and the diagnosis of IM was delayed (6 months vs 3 months, p=0.009). Weakness prevailing in the upper limbs (42.9% vs 15.3%), dysphagia (57.1% vs 25.5%), muscle atrophy (65.3% vs 34.7%), weight loss (61.2% vs 23.5%) and loss of the ability to walk (24.5% vs 5.1%) were hallmarks of DH/BS-IM (p≤0.0005), for which the patients more frequently received intravenous immunoglobulins (65.3% vs 34.7%, p=0.0004). Moreover, DH/BS-IM patients frequently featured signs and/or complications of systemic sclerosis (SSc), fulfilling the American College of Rheumatology/European Alliance of Associations for Rheumatology criteria for this disease in 40.8% of the cases (vs 5.1%, p<0.0001). Distribution of the myopathy, its severity and its association with SSc were independently associated with DH/BS (p<0.05). Mortality was higher in the DH/BS-IM patients and loss of walking ability was independently associated with survival (p<0.05).
In IM patients, DH/BS is a marker of severity and is associated with SSc (scleromyositis).