Severe Myalgia Research Articles

Acute Chikungunya Infection Induces Vascular Dysfunction by Directly Disrupting Redox Signaling in Endothelial Cells.

Chikungunya virus (CHIKV) infection is characterized by febrile illness, severe joint pain, myalgia, and cardiovascular complications. Given that CHIKV stimulates reactive oxygen species (ROS) and pro- and anti-inflammatory cytokines, events that disrupt vascular homeostasis, we hypothesized that CHIKV induces arterial dysfunction by directly impacting redox-related mechanisms in vascular cells. Wild-type (WT) and iNOS knockout (iNOS-/-) mice were administered either CHIKV (1.0 × 106 PFU/µL) or Mock vehicle via the intracaudal route. In vivo, CHIKV infection induced vascular dysfunction (assessed by a wire myograph), decreased systolic blood pressure (tail-cuff plethysmography), increased IL-6 and IFN-γ, but not TNF-α levels (determined by ELISA), and increased protein content by Western blot. Marked contractile hyporesponsiveness to phenylephrine was observed 48 h post-infection, which was restored by endothelium removal. L-NAME, 1400W, Tiron, and iNOS gene deletion prevented phenylephrine hyporesponsiveness. CHIKV infection increased vascular nitrite concentration (Griess reaction) and superoxide anion (O2•-) generation (lucigenin chemiluminescence), and decreased hydrogen peroxide (H2O2, by Amplex Red) levels 48 h post-infection, alongside increased TBARS levels. In vitro, CHIKV infected endothelial cells (EA.hy926) and upregulated ICAM-1 and iNOS protein expression (determined by Western blot). These data support the conclusion that CHIKV-induced alterations in vascular ROS/NF-kB/iNOS/NO signaling potentially contribute to cardiovascular events associated with Chikungunya infection.

7815 Pembrolizumab-Induced Autoimmune Hypophysitis with “Isolated” ACTH Deficiency: Need for Heightened Awareness and Action Among Medical Fraternity

Abstract Disclosure: S. Shankar: None. S.S. Sundar: None. M.S. Vaishnav: None. L. Lekkala: None. K. Thummala: None. S. Srikanta: None. T. Deepak: None. R.B. Vijay: None. K. Muniraj: None. V. Nath: None. C. Siddlingappa: None. P. Ravikumar: None. M.D. Chitra: None. Introduction: Autoimmune hypophysitis caused by immune checkpoint inhibitors [ICIs; anti-CTLA-4 (Ipilimumab alone 7.9%), anti-PD-1 (Pembrolizumab alone 1.7%; nivolumab alone 0%)] are being increasingly documented, with anterior hypopituitarism affecting corticotrophs more commonly than thyrotrophs and gonadotrophs (large time span of onset; different recovery patterns). Clinical Case 2021 Sep Age 65 years (type 2 diabetes, hypertension). Renal Cell Carcinoma S/P radical nephrectomy. 2023 Jul PET-CT= Metastatic pleuropulmonary nodules. Four admissions to Specialist Oncology Hospital [Four 2 weekly cycles of Inj Pembrolizumab 200 mg (with Tab Axitinib 10 mg/day)]. After first cycle: progressive fatigue, body aches, drowsiness. S Sodium= Pre-pembrolizumab= 137 mEq/L (135-145); Post-pembrolizumab= 124, 134, 132, 124; T3= 1.63 to 0.60 to 1.24 to 1.35 ng/mL (0.97-1.69); T4= 6.83 to 4.93 to 10.44 to 11.44 mcg/dL (5.53-11); TSH= 10.46 to 6.28 to 5.39 to 9.48 mIU/mL (0.46-4.68); S Cortisol 8 am= 1.54 mcg/dL (5-25); S Potassium= 4.59 mEq/dL (3.5-5.1)]. One episode of loss of consciousness; EEG= abnormal; MRI Brain= normal. During every hospital admission, oncology, medical, endocrinology and nephrology teams attributed the same to “illness” (no specific diagnosis) and provided symptomatic treatment (IV 3% saline, tolvaptan and sodium bicarbonate tablets).2023 Nov Medicine: Very severe nausea, anorexia, generalised weakness, myalgia, hiccoughs, and inability to walk. Frustrated family members sought admission in “new” General Hospital. S Sodium= 119, 120; S Potassium= 4.8; S Creatinine= 1.67 mg/dL (0.7-1.3); S Uric acid= 4.5 mg/dL (4.40-7.60); Urine spot Sodium= 84 mmol/L; ESR= 144 mm. Endocrinology: S Cortisol 8 am= 0.09 mcg/dL;S Cortisol post 250 mcg Inj Synacthen= 3.76 (>20);Plasma ACTH= 5.4 pg/ml (9-52). S T3= 1.35; S T4= 11.44; S TSH= 9.48; LH= 3.61mIU/mL (1.5-9.3); FSH= 1.4mIU/mL (1.4-18.1); PRL= 30.1 (2.6-13.3); Testosterone total= 314 ng/dL (241-827); TPO antibodies negative. MRI-Pituitary: Partial empty sella; infundibulum neurohypophysis normal; mild asymmetric enhancement (5.5 mm) left cavernous sinus. Treatment: Tab Hydrocortisone 25 mg/day, with complete clinical and biochemical response [Suggestion of gonadotroph dysfunction and partial recovery of thyrotrope dysfunction/ injury. Hence, not on thyroxine replacement]. Clinical Lessons: Mechanisms for differential cellular vulnerability for ICI induced autoimmune pathologies [thyroid (destructive versus stimulatory), islet beta cells, adrenal cortical cells, various anterior pituitary cells (corticotrophs vs thyrotrophs and gonadotrophs] need elucidation. Specific molecular and cellular immunopathogenic pathways in different autoimmune endocrinopathies appear distinct and disparate. Presentation: 6/2/2024

A Classical Manifestation of Eosinophilic Granulomatosis with Polyangiitis with an Unusual Catastrophic Outcome

A 57-year-old male patient, with a known case of bronchial asthma presented with acute dyspnea, cough with expectoration, fever, severe myalgia, and pedal edema. On physical examination, he had tachypnea, high temperature, bilateral polyphonic rhonchi, audible wheeze, and asymmetric sensory and motor neuropathy. Cutaneous examination revealed multiple palpable purpuric lesions with few hemorrhagic bullae and crusted erosions distributed symmetrically over bilateral limbs suggestive of cutaneous small vessel vasculitis. Investigations showed elevated total counts, eosinophilia, deranged electrolytes, and abnormal liver and renal function tests. Histopathology revealed eosinophilic predominant vasculitis. Testing for perinuclear anti-cytoplasmic antibody was positive. A diagnosis of eosinophilic granulomatosis with polyangiitis (Churg–Strauss disease) was thus confirmed. The patient succumbed in 2 weeks due to multi-organ failure. All the characteristic findings were found in our patient, but a fatal outcome in a very short period after diagnosis was an unusual presentation.

Protracted Febrile Myalgia Syndrome: A Rare and Difficult Manifestation of Familial Mediterranean Fever.

Protracted febrile myalgia syndrome (PFMS) is characterized by severe myalgia, fever, abdominal pain, and arthralgia/arthritis episodes lasting for several weeks in patients with familial Mediterranean fever. Treatment options include nonsteroidal anti-inflammatory drugs, corticosteroids, and anti-interleukin-1 therapy. This study aimed to share our experiences of PFMS so as to shed light on this rare and elusive condition. This cross-sectional analysis included 17 patients diagnosed with PFMS at our pediatric rheumatology clinic between January 2018 and September 2023. In our clinic, 17 (1%) of 1663 familial Mediterranean fever patients presented with PFMS, and it was the initial manifestation in 10 patients (58.8%) in the cohort. Eight of the 17 patients had an M694V homozygous mutation in the MEFV gene. A magnetic resonance imaging showed myositis and fasciitis in just 1 patient, and myositis alone was evident in 5 others. Symptoms improved in 2 patients with nonsteroidal anti-inflammatory drugs, whereas prednisolone improved symptoms in 12 patients and anakinra was required in 3 patients. Patients who received anakinra had another severe attack and required long-term anakinra or canakinumab. Syndrome for PFMS is difficult to recognize as it can sometimes be the first manifestation of familial Mediterranean fever. The syndrome is not accompanied by fever in some patients, even though the word febrile is part of its name. Most patients respond dramatically to nonsteroidal anti-inflammatory drugs or corticosteroids. In some patients with PFMS, long-term anakinra or canakinumab treatment may be more useful in preventing severe attacks of PFMS than short-term (5 to 7 days) anakinra treatment.

Acute hepatitis E virus infection presenting as meningo-encephalitis.

Acute hepatitis E infection (HEV), with its high incidence in Europe, should be considered as a differential diagnosis of acute viral hepatitis and can in some cases manifest with pronounced neurological symptoms. We report on a 33-year-old female patient with severe arthralgia, myalgia, headache and psychomotor deterioration. Laboratory analyses showed elevated transaminases without signs of cholestasis. Acute hepatitis E virus infection was detected in serum. She reported fatigue and dysesthesias not responsive to analgesics. Cerebrospinal fluid (CSF) analysis revealed an inflammatory syndrome. HEV RNA was detected in the CSF. The infection remained mild, but dysesthesias persisted. Eight weeks after the first admission, the symptoms worsened again. Complete and sustained remission was achieved following intravenous corticosteroid treatment. In patients with acute neurological symptoms and liver enzyme elevation, HEV infection should be considered. Neurologic symptoms such as fatigue, arthralgia, myalgia and dysesthesia along with psychomotor retardation should prompt CSF analysis.

Long chikungunya? An overview to immunopathology of persistent arthralgia

Chikungunya fever (CF) is caused by an arbovirus whose manifestations are extremely diverse, and it has evolved with significant severity in recent years. The clinical signs triggered by the Chikungunya virus are similar to those of other arboviruses. Generally, fever starts abruptly and reaches high levels, followed by severe polyarthralgia and myalgia, as well as an erythematous or petechial maculopapular rash, varying in severity and extent. Around 40% to 60% of affected individuals report persistent arthralgia, which can last from months to years. The symptoms of CF mainly represent the tissue tropism of the virus rather than the immunopathogenesis triggered by the host's immune system. The main mechanisms associated with arthralgia have been linked to an increase in T helper type 17 cells and a consequent increase in receptor activator of nuclear factor kappa-Β ligand and bone resorption. This review suggests that persistent arthralgia results from the presence of viral antigens post-infection and the constant activation of signaling lymphocytic activation molecule family member 7 in synovial macrophages, leading to local infiltration of CD4+ T cells, which sustains the inflammatory process in the joints through the secretion of pro-inflammatory cytokines. The term "long chikungunya" was used in this review to refer to persistent arthralgia since, due to its manifestation over long periods after the end of the viral infection, this clinical condition seems to be characterized more as a sequel than as a symptom, given that there is no active infection involved.

Rhabdomyolysis – A Rare Presentation of COVID-19

Abstract COVID-19 pandemic presented a great global health-care challenge. The spectrum of illness comprises pulmonary and extrapulmonary manifestations including hepatic, renal, and neurological complications. Our patient is a young male who presented with fever, severe myalgia, and respiratory distress. After a thorough clinical examination and laboratory investigations, the diagnosis of COVID-19 pneumonia and associated rhabdomyolysis was made. He developed acute renal failure for which intravenous hydration was given. He also required renal replacement therapy. He was successfully treated and discharged with complete remission of symptoms. We did a literature search for similar cases and have discussed the potential mechanisms implied for these complications.

Surveillance for rhabdomyolysis after the consumption of crayfish in Wuhan, China, 2016-2022.

To analyze the epidemiological characteristics and etiology of crayfish-related rhabdomyolysis. Cases of crayfish-related rhabdomyolysis in Wuhan were monitored, and professional training of city's surveillance personnel was conducted. Unified questionnaires were used to collect data. The first case of crayfish-related rhabdomyolysis occurred on July 12, 2016. Subsequently, 423 patients were reported over the next 7 years, with muscle pain, weakness, and chest distress as main symptoms. In total, 64.54% (273/423) of patients were females, and young adults (aged 20-49 years) account for 86.22% (363/423) of patients. The primary clinical presentations were muscle pain, muscle weakness, and chest discomfort. The median incubation time was 6 h. And the number of cases may be related to water levels in Yangzi river. Laboratory tests revealed elevated creatine kinase and myoglobin levels. In total, 95.16% (236/248) of patients had consumed crayfish tail shrimp and 91.53% (227/248) had consumed crayfish liver and pancreas (Female crayfish also contain ovaries). Only 25.00% (62/248) of patients had a history of alcohol consumption. On average, 227 patients consumed 15 (3-50) crayfish, of whom 84.14% (191/227) consumed more than 10 crayfish. All patients had a favorable prognosis. Crayfish-related rhabdomyolysis is a kind of a case or cluster of patients present with severe myalgia or weakness of unknown etiology and mechanism disease in Wuhan, China, 2016-2022. Excessive consumption of crayfish may be a risk factor for the disease. The relationship between the specific parts of crayfish consumed and the onset of the disease is unclear, suggesting further research is needed to identify the relevant risk factors for the disease.

The first adolescent case infected with chikungunya virus in South Korea

Chikungunya fever, a viral illness transmitted to humans through the bites of infected mosquitoes, presents with symptoms such as high fever, severe myalgia, headache, arthralgia, rash, and vomiting. This disease predominantly manifests in Southeast Asia, Africa, and Central and South America, with a limited occurrence in Northeast Asia. To date, no such a documented case has been reported in South Korea. Herein, we present the first adolescent case of chikungunya fever in South Korea following a travel to Bali, Indonesia.

Abstract TP252: Forward Head Posturing as a Significant Risk Factor for Posterior Circulation Infarcts

Objective: Forward head posturing (FHP) has been associated with chronic anatomic vertebral artery disturbances possibly leading to posterior circulation ischemia. The data supporting FHP as a true risk factor of posterior circulation stroke has not been well established. We aim to study if patients with severe cervical myalgias and FHP have an increased risk of posterior circulation stroke. Methods: We identified all adult patients with posterior circulation stroke and diagnosis of cervical myalgia at Loyola University Medical Center from January 2018 to January 2023. Information on demographics and comorbidities were also collected. We then identified matched pair case-controls (based on age and gender) with non-stroke cervical myalgia patients in the same 5-year period. We compared the relevant comorbidities, C2 tilt angle, and C2-C7 tilt angle of patients to their matched controls to for statistical difference. Results: 76 patients (38 cases and 38 controls) with an average age of 64 years, including 38 (50%) females met our inclusion criteria. The average C2 tilt of cases was 22.9 degrees compared to 17.7 degrees in controls, and the average C2-C7 tilt of cases was 18.9 degrees in cases compared 10.5 degrees in controls. There were no significant differences between relevant comorbidities (including hypertension, hyperlipidemia, diabetes, atrial fibrillation, hyper-coagulopathy, or body mass index) of cases and controls. There was a significant difference of 5.2 degrees higher C2 tilt and 8.1 degrees higher C2-C7 tilt in cases compared to controls respectively (p-value = 0.03). Conclusion: In this single-center retrospective analysis, we found that after controlling for age, gender, and comorbidities, patients with posterior circulation stroke were more likely to have significantly higher C2 and C2-C7 cervical tilt (worse FHP based on radiographic standards) compared to their matched control counterparts.

642. The impact of novel E1:M407I mutation on replicative fitness of the Chikungunya virus ECSA-IOL strain during infection of mammalian and mosquito cells,

Abstract Background Chikungunya virus (CHIKV) is an Alpha virus which is transmitted by Aedes genus of mosquitoes. It causes febrile illness with severe arthralgia, myalgia and rashes. Since 2000, the re-emergence of this pathogen have made it a global health security threat as it has caused severe form of diseases with epidemics of large magnitude and also spread to European and American continent. Studies have identified different point mutations in E1 and E2 region associated with virulence and infectivity, which is behind these severe epidemics. Pakistan reported first CHIKV outbreak with more than 30,000 infections from its largest city in 2016 which is already endemic for Dengue virus (DENV). Methods 32 CHIKV PCR-positive serum samples were collected from molecular pathology section of DUHS followed by RNA extraction and amplifcation of E1 region by PCR. The amplified products were prurified and sanger sequenced by BigDye termination method. Mutation analyses & Bayesian phylogeny was done by bioinformatic tools. CHIKV E1:M407I mutation was cloned in to CHIKV wild type infectious cDNA clone plasmid (SL-CK-1) by site directed mutagenesis (SDS). In vitro viral RNA was synthesized after plasmid linearization, which was electroporated into VERO-CCL-81 cells. M407I mutant virus was recovered from the culture, titrated by plaque assay and sanger sequenced to confirmed the M407I mutation. Viral competition assay was performed in mammalian and mosquitoes cell lines to determine the relative replicative fitness of mutant CHIKV virus over wild type. Results Sequence analysis revealed 7 unique mutations in E1 including one mutation (M407I) in more than half of the sequenced samples. Phylogenetic analyses revealed this outbreak was caused by CHIKV-IOL genotype with possible inception from India. Virus competition assay showed relative replicative fitness for CHIKV E1:M407I mutant in Vero-CLL-81 and AAG2 cells have greater advantage while in C6/36, it has slight advantage over wild type virus. Conclusion This study reports a novel mutations in E1 protein of CHIKV with fitness advantage over wild type strain. Phylogeny revealed the outbreak was caused by A226-IOL strain with possible origin from ancestral strain of Indian outbreak. Disclosures All Authors: No reported disclosures

Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program.

Malignant hyperthermia (MH) susceptibility is a heritable musculoskeletal disorder that can present as a potentially fatal hypermetabolic response to triggering anesthesia agents. Genomic screening for variants in MH-associated genes RYR1 and CACNA1S provides an opportunity to prevent morbidity and mortality. There are limited outcomes data from disclosing variants in RYR1, the most common MH susceptibility gene, in unselected populations. The authors sought to identify the rate of MH features or fulminant episodes after triggering agent exposure in an unselected population undergoing genomic screening including actionable RYR1 variants. The MyCode Community Health Initiative by Geisinger (USA) is an electronic health record-linked biobank that discloses pathogenic and likely pathogenic variants in clinically actionable genes to patient-participants. Available electronic anesthesia and ambulatory records for participants with actionable RYR1 results returned through December 2020 were evaluated for pertinent findings via double-coded chart reviews and reconciliation. Descriptive statistics for observed phenotypes were calculated. One hundred fifty-two participants had an actionable RYR1 variant disclosed during the study period. None had previous documented genetic testing for MH susceptibility; one had previous contracture testing diagnosing MH susceptibility. Sixty-eight participants (44.7%) had anesthesia records documenting triggering agent exposure during at least one procedure. None received dantrolene treatment or had documented muscle rigidity, myoglobinuria, hyperkalemia, elevated creatine kinase, severe myalgia, or tea-colored urine. Of 120 possibly MH-related findings (postoperative intensive care unit admissions, hyperthermia, arterial blood gas evaluation, hypercapnia, or tachycardia), 112 (93.3%) were deemed unlikely to be MH events; 8 (6.7%) had insufficient records to determine etiology. Results demonstrate a low frequency of classic intraanesthetic hypermetabolic phenotypes in an unselected population with actionable RYR1 variants. Further research on the actionability of screening for MH susceptibility in unselected populations, including economic impact, predictors of MH episodes, and expanded clinical phenotypes, is necessary.

CACNA1S Variant Associated With a Myalgic Myopathy Phenotype.

This study aimed to characterize the phenotype of a novel myalgic myopathy encountered in a Finnish family. Four symptomatic and 3 asymptomatic individuals from 2 generations underwent clinical, neurophysiologic, imaging, and muscle biopsy examinations. Targeted sequencing of all known myopathy genes was performed. A very rare CACNA1S gene variant c.2893G>C (p.E965Q) was identified in the family. The symptomatic patients presented with exercise-induced myalgia, cramping, muscle stiffness, and fatigue and eventually developed muscle weakness. Examinations revealed mild ptosis and unusual muscle hypertrophy in the upper limbs. In the most advanced disease stage, muscle weakness and muscle atrophy of the limbs were evident. In some patients, muscle biopsy showed mild myopathic findings and creatine kinase levels were slightly elevated. Myalgia is a very common symptom affecting quality of life. Widespread myalgia may be confused with other myalgic syndromes such as fibromyalgia. In this study, we show that variants in CACNA1S gene may be one cause of severe exercise-induced myalgia.

Mouse Models of Mayaro Virus.

Mayaro virus (MAYV), the etiologic agent of Mayaro fever, leads patients to severe myalgia and arthralgia, which can have a major impact on public health in all the countries where the virus circulates. The emergence and dissemination of new viruses have led the scientific community to develop new in vivo models that can help in the fight against new diseases. So far, mice have been the most used animal model in studies with MAYV and have proved to be an adequate model for recapitulating several aspects of the disease observed in humans. Mice are widely used in in vivo research and, therefore, are well known in the scientific community, which has allowed for different strains to be investigated in the study of MAYV. In this review, we summarize the main studies with MAYV using mice as an experimental model and discuss how they can contribute to the advancement of the understanding of its pathogenesis and the development of new drugs and vaccines.

Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene

Both, recessive (LGMD R1) and dominant (LGMD D4) inheritance occur in calpain 3-related muscular dystrophy. We report a family with calpain-related muscular dystrophy caused by two known variants in the calpain 3 gene (CAPN3, NM_000070.3; (I) c.700G>A, p.Gly234Arg and (II) c.1746-20C>G, p.?). Three family members are compound heterozygous and exhibit a relatively homogeneous phenotype characterized by progressive proximal weakness starting in the third to fourth decade of life in the shoulder girdle and spreading to the legs. Two family members affected only by the p.Gly234Arg heterozygous missense variants show a different phenotype characterized by severe exertional myalgia without overt pareses. We conclude that in our family, the missense variant causes a severe myalgic phenotype without pareses that is aggravated by the second intronic variant and put these findings in the context of previous studies of the same variants.

Live-attenuated Chikungunya vaccine: a possible new era

Chikungunya virus is a mosquito-borne pathogen that causes periodic explosive outbreaks of chikungunya, an illness characterised by severe polyarthralgia and myalgia that can progress to chronic debilitating rheumatic disease. 1 Bartholomeeusen K Daniel M LaBeaud DA et al. Chikungunya fever. Nat Rev Dis Primers. 2023; 9: 17 Crossref PubMed Scopus (0) Google Scholar The pandemic potential of chikungunya virus was best exemplified in 2013, when a major outbreak in South America led to over 1 million infections in a matter of months. 2 Zeller H Van Bortel W Sudre B Chikungunya: its history in Africa and Asia and its spread to new regions in 2013–2014. J Infect Dis. 2016; 214: S436-S440 Crossref PubMed Scopus (22) Google Scholar The pooled incidence of post-chikungunya chronic articular symptoms in the Americas was 52% in studies done between 2014 and 2018, 3 Edington F Varjão D Melo P Incidence of articular pain and arthritis after chikungunya fever in the Americas: a systematic review of the literature and meta-analysis. Joint Bone Spine. 2018; 85: 669-678 Crossref PubMed Scopus (19) Google Scholar leading to the loss of over 150 000 disability-adjusted life-years in Latin America in 2014 alone. 4 Cardona-Ospina JA Diaz-Quijano FA Rodríguez-Morales AJ Burden of chikungunya in Latin American countries: estimates of disability-adjusted life-years (DALY) lost in the 2014 epidemic. Int J Infect Dis. 2015; 38: 60-61 Summary Full Text Full Text PDF PubMed Scopus (27) Google Scholar In 2018, chikungunya virus was listed as a priority pathogen for vaccine development by WHO, 5 Mehand MS Al-Shorbaji F Millett P Murgue B The WHO R&D blueprint: 2018 review of emerging infectious diseases requiring urgent research and development efforts. Antiviral Res. 2018; 159: 63-67 Crossref PubMed Scopus (171) Google Scholar and candidate vaccines have been in various stages of clinical trials for over 60 years. However, no chikungunya virus vaccine has yet met the threshold for regulatory approval based on efficacy or surrogate marker data. Safety and immunogenicity of a single-shot live-attenuated chikungunya vaccine: a double-blind, multicentre, randomised, placebo-controlled, phase 3 trialThe strong immune response and the generation of seroprotective titres in almost all vaccinated participants suggests that VLA1553 is an excellent candidate for the prevention of disease caused by chikungunya virus. Full-Text PDF Open Access

A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype

Recessive pathogenic variants in POPDC3 have recently been associated with the rare limb-girdle muscular dystrophy (LGMD) subtype LGMDR26. We studied three siblings and a distantly related individual with a skeletal muscle disorder, harboring the c.486–6T>A splice site variant in POPDC3 in homozygosity. Immunohistochemistry, western blot, and mRNA experiments on patients’ skeletal muscle tissue as well as on patients’ myoblasts were performed to study the pathogenicity of the predicted loss of function mechanism of the variant. Patients mainly presented with invalidating myalgia and exercise intolerance and limited to no segmentary muscle weakness. CK levels were markedly elevated in all patients. A loss of function mechanism at the RNA level was shown (r.485_486insauag, p.Ile163*). Muscle biopsies performed in three out of four patients showed non-specific myopathic features with a marked type 2 fiber predominance and the presence of a large number of severely atrophic fibers with pyknotic nuclear clumps. We show that skeletal muscle symptoms in LGMDR26 may range from an overt late juvenile to young adult-onset limb-girdle muscular dystrophy phenotype to severe exercise intolerance and myalgia, with consistently highly elevated CK levels. We further prove a clear LOF mechanism of POPDC3 in this rare disorder.

Chikungunya fever.

Chikungunya virus is widespread throughout the tropics, where it causes recurrent outbreaks of chikungunya fever. In recent years, outbreaks have afflicted populations in East and Central Africa, South America and Southeast Asia. The virus is transmitted by Aedes aegypti and Aedes albopictus mosquitoes. Chikungunya fever is characterized by severe arthralgia and myalgia that can persist for years and have considerable detrimental effects on health, quality of life and economic productivity. The effects of climate change as well as increased globalization of commerce and travel have led to growth of the habitat of Aedes mosquitoes. As a result, increasing numbers of people will be at risk of chikungunya fever in the coming years. In the absence of specific antiviral treatments and with vaccines still in development, surveillance and vector control are essential to suppress re-emergence and epidemics.

Dengue Fever Presenting with Severe Myositis-A Case Report

Dengue fever is one of the most common vector-borne diseases, which is a viral infection transmitted by female Aedes aegypti mosquitoes. It is most common in tropical countries like India. Dengue fever symptoms can range from a mild infection to severe flu-like sickness. Myalgia is a symptom of dengue infection. Dengue fever with myositis and/or high serum creatine phosphokinase (CPK) levels, on the other hand, is extremely uncommon. Dengue virus can cause myositis in many mechanisms. One of the most common mechanisms is by direct invasion of the myocytes by the dengue viruses. Myotoxins, Inflammatory cytokines have also been a part of the development of myositis. The clinical spectrum is broad, from the mild asymmetrical weakness of lower extremities to sudden progressive severe limb and trunk weakness, and even lung failure. This case study aims to show the rare neuromuscular complications of dengue fever, which can be managed well with a high index of suspicion. Our patient presented with fever and severe myalgia and was diagnosed with dengue. We started treating the patient with a provisional diagnosis of dengue-associated myositis. Significantly elevated CPK levels confirmed the myositis. Hereby, we are presenting a case of dengue fever with myositis with muscle weakness & elevated creatine phosphokinase (CPK) levels who recovered completely with early suspicion of dengue-associated myositis and early management. Hence, Physicians should have a high index of suspicion and early management of dengue-associated neuromuscular complications.

Severe myalgia and jaw pain resolution with conversion to rocuronium in ECT

Severe myalgia and jaw pain resolution with conversion to rocuronium in ECT