scholarly journals Clinical and Pathological Features of Immune-Mediated Necrotising Myopathies in a Single-Centre Muscle Biopsy Cohort

2022 ◽  
Author(s):  
Hongxia Yang ◽  
Xiaolan Tian ◽  
Lining Zhang ◽  
Wenli Li ◽  
Qingyan Liu ◽  
...  
Keyword(s):  
Muscle Fibre ◽  
Muscle Weakness ◽  
Muscle Biopsy ◽  
Clinical Symptoms ◽  
Age Of Onset ◽  
Pathological Features ◽  
Single Centre ◽  
Lipid Storage Myopathy ◽  
Pathological Characteristics ◽  
Immune Mediated

Abstract Objective Immune-mediated necrotising myopathy (IMNM) is a recently entitled novel subset of idiopathic inflammatory myopathies (IIM) characterized by significant elevated creatine kinase (CK) level, muscle weakness and predominant muscle fibre necrosis in muscle biopsy. This study aimed to investigate the clinical and pathological characteristics of patients with IMNM in our single-centre muscle biopsy cohort. Methods A total of 860 patients who had muscle biopsy reports in our centre from May 2008 to December 2017 were enrolled in this study. IMNM was diagnosed in according with 2018 European Neuromuscular Centre (ENMC) clinicopathological diagnostic criteria for IMNM. Results The muscle biopsy cohort consisted of 531 patients with IIM (61.7%), 253 patients with non-IIM (29.4%), and 76 undiagnosed patients (8.8%). Among IIM patients, polymyositis (PM), dermatomyositis(DM), amyopathic dermatomyositis, juvenile DM, and inclusion body myositis were 182(21.2%), 236(27.4%), 83(9.7%), 18(2.1%) and 3(0.3%), respectively. In PM subgroup, 59 patients met serological and pathological characteristics of IMNM according to 2018 ENMC criteria including 29 anti-SRP-positive patients,10 anti-HMGCR-positive patients and 20 MSA-negative patients. Limb girdle muscular dystrophy (LGMD) 2B and lipid storage myopathy (LSM) were 29 and 16 respectively, which present similar manifestations of IMNM with elevated CK levels and muscle weakness among non-IIM group. IMNM patients had older age of onset (mean: 42.25 vs 21.66 and 24.56, p<0.0001), shorter duration of diseases (mean: 22.56 vs 66.69 and 48.94, p<0.0001) and more frequent of dysphagia (33.9% vs 3.4% and 6.3%, p<0.0001) compare to patients with LGMD 2B and LSM. Muscle biopsy from IMNM patients showed frequent muscle fibre necrosis (96.6% vs 72.4% and 56.3%, p<0.0001), overexpression of MHC-I on sarcolemma (81.4% vs 37.9% and 12.9%, p<0.0001) and CD4+ T cell endomysial infiltration (89.9% vs 53.6% and 50%, p<0.0001) compared with LGMD 2B and LSM patients. Conclusions It is easy to distinguish IMNM from other subtype of IIM according to clinical symptoms and MSAs profiles. However, distinguishing IMNM from disorders clinically similar non-IIM need to combine with clinical, serological and pathological features.

scholarly journals Physical therapy improves motion in a patient with inclusion body myositis - a case report

2020 ◽  
Vol 77 (11) ◽  
pp. 1216-1220
Author(s):  
Jelena Stevanovic ◽  
Maja Vulovic ◽  
Danijela Pavicevic ◽  
Mihailo Bezmarevic ◽  
Andjelka Stojkovic ◽  
...  
Keyword(s):  
Case Report ◽  
Physical Therapy ◽  
Inclusion Body ◽  
Muscle Weakness ◽  
Muscle Biopsy ◽  
Inclusion Body Myositis ◽  
Clinical Symptoms ◽  
Inflammatory Myopathy ◽  
Functional Abilities ◽  
Progressive Muscle Weakness

Introduction. Inclusion body myositis (IBM) is a rare form of inflammatory myopathy with a slowly progressive course. It is manifested by early weakness and atrophy of skeletal muscles, especially forearm muscles and the quadriceps. At the very beginning of the disease, clinical symptoms are not pronounced, therefore it is difficult to diagnose. Case report. A forty-eight-year-old female patient visited her doctor due to the weakness of muscles in arms and legs. Five years prior to this, she was treated by a neurologist and a physiatrician on several occasions with different diagnoses for progressive muscle weakness. During the last hospitalization, IBM was diagnosed after the muscle biopsy findings. After the diagnosis, the patient underwent intensive physical therapy in order to preserve the ability to independently perform everyday activities and stability of walk. Conclusion. IBM is a rare clinical entity which often takes several years to be diagnosed. Progressive muscle weakness in elderly should point to possible IBM diagnosis, which is only confirmed by muscle biopsy. Physical therapy has a significant role in the treatment as it leads to improvement of functional abilities of the patients in their daily activities, thus reducing the disability degree.

Vaccination as a possible trigger for immune-mediated necrotising myopathy

2021 ◽  
Vol 14 (5) ◽  
pp. e242095
Author(s):  
Julia Francesca Bonato Cavalcanti ◽  
Maria Beatriz Almeida Silva ◽  
Alzira Alves de Siqueira Carvalho
Keyword(s):  
Muscle Weakness ◽  
Muscle Biopsy ◽  
Inflammatory Cell ◽  
Reference Value ◽  
Lower Limbs ◽  
Cervical Region ◽  
Allergic Reactions ◽  
Progressive Muscle Weakness ◽  
Immune Mediated ◽  
Autoimmune Myopathy

Immune-mediated necrotising myopathy is a rare autoimmune myopathy characterised by severe progressive muscle weakness, elevated levels of creatine kinase (CK), and necrosis with minimal inflammatory cell infiltration on muscle biopsy. We report a case of a previously healthy 42-year-old woman who presented with progressive muscle weakness 2 weeks after immunisation for yellow fever, tetanus/diphtheria and hepatitis B. Her symptoms started from the lower limbs and progressed to the upper limbs and cervical region associated with dysphagia, making her wheelchair bound. Electromyography showed a myopathic pattern, with a CK level of 12.177 U/L (reference value: 26–190 U/L), and biceps brachial muscle biopsy confirmed necrosis and regeneration fibres. The immunoblot test was positive for antisignal recognition particle. She was successfully treated with prednisone (1 mg/kg/day). Although considered safe, vaccines may cause allergic reactions or trigger autoimmune disorders. Currently, a causal relationship between them cannot be established.

scholarly journals Clinical and pathological characteristics of 2019 novel coronavirus disease (COVID-19): a systematic reviews

2020 ◽  
Author(s):  
Yaqian Mao ◽  
Wei Lin ◽  
Junping Wen ◽  
Gang Chen
Keyword(s):  
Severe Acute Respiratory Syndrome ◽  
Healthcare Worker ◽  
Clinical Symptoms ◽  
Early Recognition ◽  
Clinical Manifestations ◽  
Pathological Examination ◽  
Pathological Features ◽  
Pathological Characteristics ◽  
Pubmed Database ◽  
Novel Coronavirus

AbstractsImportanceIn 2002-2003, a severe pulmonary infectious disease occurred in guangdong, China. The disease was caused by severe acute respiratory syndrome coronavirus (SARS-CoV), 17 years apart, also happen in China, and also a novel coronavirus (SARS-CoV-2), this epidemic has posed a significant hazard to people’s health both China and the whole world.ObjectiveSummarized the latest epidemiological changes, clinical manifestations, auxiliary examination and pathological characteristics of COVID-19.Evidence ReviewPubMed database were searched from 2019 to 2020 using the index terms “novel coronavirus” or “COVID-19” or “2019-nCoV” or “SARS-CoV-2” and synonyms. Articles that reported clinical characteristics, laboratory results, imageological diagnosis and pathologic condition were included and were retrospectively reviewed for these cases. This paper adopts the method of descriptive statistics.Results34 COVID-19-related articles were eligible for this systematic review,Four of the articles were related to pathology. We found that Fever (86.0%), cough (63.9%) and Malaise/Fatigue (34.7%) were the most common symptoms in COVID-19. But in general, the clinical symptoms and signs of COVID-19 were not obvious. Compared with SARS, COVID-19 was transmitted in a more diverse way. The mortality rates of COVID-19 were 2.5%, and the overall infection rate of healthcare worker of COVID-19 was 3.9%. We also found that the pathological features of COVID-19 have greatly similar with SARS, which manifested as ARDS. But the latest pathological examination of COVID-19 revealed the obvious mucinous secretions in the lungs.InterpretationThe clinical and pathological characteristics of SARS and COVID-19 in China are very similar, but also difference. The latest finds of pathological examination on COVID-19 may upend existing treatment schemes, so the early recognition of disease by healthcare worker is very important.Key PointsQuestionWhat can we learn from the clinical manifestations and pathological features of 2019 novel coronavirus disease (COVID-19)?FindingsIn this review, we found COVID-19 was transmitted in a more diverse way than Severe acute respiratory syndrome (SARS). Fever, cough and Malaise/Fatigue were the most common symptoms. We also found that the SARS-CoV-2 has the same cell entry receptor ACE2 as SARS-CoV, and they have similar pathological mechanisms like Acute respiratory distress syndrome (ARDS).MeaningThis review aims to give people a more comprehensive understanding of COVID-19 and to continuously improve the level of prevention, control, diagnosis and treatment.

Utility and Results from a Patient-Reported Online Survey in Myotonic Dystrophies Types 1 and 2

2020 ◽  
Vol 83 (5) ◽  
pp. 523-533
Author(s):  
Stephan Wenninger ◽  
Kristina Stahl ◽  
Federica Montagnese ◽  
Benedikt Schoser
Keyword(s):  
Muscle Weakness ◽  
Online Survey ◽  
Clinical Symptoms ◽  
Age Of Onset ◽  
Neuromuscular Disorders ◽  
Gastrointestinal Symptoms ◽  
Online Surveys ◽  
Cardiac Symptoms ◽  
Significant Difference ◽  
Patient Reported

<b><i>Introduction:</i></b> Myotonic dystrophies (DMs) are the most frequent autosomal dominant neuromuscular disorders in adults. Our objective was to evaluate the utility of an online survey in a rare disease as well as to assess and compare the onset and the progression of clinical symptoms in patients with myotonic dystrophy types 1 (DM1) and 2 (DM2). <b><i>Methods:</i></b> We conducted a patient’s reported online survey assessing demographics, disease-related symptoms (age of onset, first symptom, time of diagnosis, current symptoms, inheritance, and family history) combined with capturing current symptoms by validated questionnaires. The questionnaire consisted of open, closed, single- and multiple-choice questions. Multiple answers were possible in some cases. Patients with genetically confirmed DM1 or DM2 who were registered in the German DM registry or the <i>Deutsche Gesellschaft für Muskelkranke e.V.</i> – Diagnostic Group for DMs were invited to participate in this online survey. We calculated descriptive and exploratory analysis, where applicable. <b><i>Results:</i></b> Out of 677 data sets from respondents, 394 were suitable for final analysis, containing completed questionnaires from 207 DM1 (56% female) and 187 DM2 patients (71% female). The median age of onset was 28 years for DM1 and 35 years for DM2. Muscular symptoms were most frequently reported as the first symptom. The onset of myotonia was earlier than the onset of muscle weakness in both DM1 and DM2. Forty-four percent of patients with DM1 and one-third of patients with DM2 indicated muscle weakness as the first symptom. Patients with DM1 were significantly younger when experiencing muscle weakness as first symptom. Fatigue was only mentioned by a small fraction of patients as a first symptom but increased significantly in the course of the disease. There was no statistically significant difference in the incidence of cataracts, cardiac symptoms, and gastrointestinal symptoms between DM1 and DM2. Falls were reported almost equally in both groups, and most of the patients reported 2–3 falls within the past year. <b><i>Discussion:</i></b> Overall, as our results are consistent with the results of clinical studies and online registries, it can be assumed that this type of systematic gathering of data from patients with rare diseases is useful and provides realistic and appropriate results. Due to the nature of online surveys and the absence of an assessor, some uncertainty remains. Furthermore, survey frauds cannot be completely excluded. An additional clinical assessment could confirm the given information and will improve the utility and validity of reported symptoms participants provide in online surveys. Therefore, we recommend a combination of data collecting by online surveys and clinical assessments.

Biological therapy in idiopathic inflammatory myopathies

2014 ◽  
Vol 155 (1) ◽  
pp. 3-10
Author(s):  
Levente Bodoki ◽  
Melinda Nagy-Vincze ◽  
Zoltán Griger ◽  
Andrea Péter ◽  
Csilla András ◽  
...  
Keyword(s):  
T Cells ◽  
Muscle Weakness ◽  
Biological Therapy ◽  
Therapeutic Options ◽  
Idiopathic Inflammatory Myopathies ◽  
Inflammatory Myopathies ◽  
Progressive Muscle Weakness ◽  
Immune Mediated ◽  
Novel Therapeutic

Idiopathic inflammatory myopathies are systemic, immune-mediated diseases characterized by proximal, symmetrical, progressive muscle weakness. The aim of this work is to give an overview of the biological therapy used in the treatment of idiopathic inflammatory myopathies. The authors also focus on novel results in the therapy directed against the B- and T-cells. They emphasize the importance of new trials in these diseases which may lead to the introduction of novel therapeutic options in these disorders. Orv. Hetil., 2014, 155(1), 3–10.

scholarly journals Autoantibody profiles and clinical association in Thai patients with autoimmune retinopathy

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Aulia Rahmi Pawestri ◽  
Niracha Arjkongharn ◽  
Ragkit Suvannaboon ◽  
Aekkachai Tuekprakhon ◽  
Vichien Srimuninnimit ◽  
...  
Keyword(s):  
Clinical Outcomes ◽  
Age Of Onset ◽  
Male Gender ◽  
Blurred Vision ◽  
Autoimmune Retinopathy ◽  
Immune Mediated ◽  
Underlying Malignancy ◽  
Clinical Presentations ◽  
Treatment Plans ◽  
Autoantibody Profiles

AbstractAutoimmune retinopathy (AIR) is a rare immune-mediated inflammation of the retina. The autoantibodies against retinal proteins and glycolytic enzymes were reported to be involved in the pathogenesis. This retrospective cohort study assessed the antiretinal autoantibody profiles and their association with clinical outcomes of AIR patients in Thailand. We included 44 patients, 75% were females, with the overall median age of onset of 48 (17–74, IQR 40–55.5) years. Common clinical presentations were nyctalopia (65.9%), blurred vision (52.3%), constricted visual field (43.2%), and nonrecordable electroretinography (65.9%). Underlying malignancy and autoimmune diseases were found in 2 and 12 female patients, respectively. We found 41 autoantibodies, with anti-α-enolase (65.9%) showing the highest prevalence, followed by anti-CAII (43.2%), anti-aldolase (40.9%), and anti-GAPDH (36.4%). Anti-aldolase was associated with male gender (P = 0.012, OR 7.11, 95% CI 1.54–32.91). Anti-CAII showed significant association with age of onset (P = 0.025, 95% CI − 17.28 to − 1.24), while anti-α-enolase (P = 0.002, OR 4.37, 95% CI 1.83–10.37) and anti-GAPDH (P = 0.001, OR 1.87, 95% CI 1.32–2.64) were significantly associated with nonrecordable electroretinography. Association between the antibody profiles and clinical outcomes may be used to direct and adjust the treatment plans and provide insights in the pathogenesis of AIR.

scholarly journals Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Yahya Benbouchta ◽  
Imane Cherkaoui Jaouad ◽  
Habiba Tazi ◽  
Hamza Elorch ◽  
Mouna Ouhenach ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Symptoms ◽  
Age Of Onset ◽  
Novel Mutation ◽  
Corneal Dystrophy ◽  
Heterozygous Mutation ◽  
Large Variability ◽  
Whole Exome ◽  
Moroccan Family

Abstract Background Corneal dystrophies (CDs) are a heterogeneous group of bilateral, genetically determined, noninflammatory bilateral corneal diseases that are usually limited to the cornea. CD is characterized by a large variability in the age of onset, evolution and visual impact and the accumulation of insoluble deposits at different depths in the cornea. Clinical symptoms revealed bilateral multiple superficial, epithelial, and stromal anterior granular opacities in different stages of severity among three patients of this family. A total of 99 genes are involved in CDs. The aim of this study was to identify pathogenic variants causing atypical corneal dystrophy in a large Moroccan family and to describe the clinical phenotype with severely different stages of evolution. Case presentation In this study, we report a large Moroccan family with CD. Whole-exome sequencing (WES) was performed in the three affected members who shared a phenotype of corneal dystrophy in different stages of severity. Variant validation and familial segregation were performed by Sanger sequencing in affected sisters and mothers and in two unaffected brothers. Whole-exome sequencing showed a novel heterozygous mutation (c.1772C > A; p.Ser591Tyr) in the TGFBI gene. Clinical examinations demonstrated bilaterally multiple superficial, epithelial and stromal anterior granular opacities in different stages of severity among three patients in this family. Conclusions This report describes a novel mutation in the TGFBI gene found in three family members affected by different phenotypic aspects. This mutation is associated with Thiel-Behnke corneal dystrophy; therefore, it could be considered a novel phenotype genotype correlation, which will help in genetic counselling for this family.

The most useful and commonly available acute rejection surveillance strategies are routine monitoring of myocardial function and donor-specific anti-HLA Abs monitoring

2021 ◽  
Author(s):  
Moataz Dowaidar
Keyword(s):  
Acute Rejection ◽  
Cell Function ◽  
Clinical Symptoms ◽  
Contractile Function ◽  
Therapy Monitoring ◽  
Genomic Medicine ◽  
Non Invasive ◽  
Monitoring Tools ◽  
Immune Mediated ◽  
Routine Monitoring

Given the complexity of acute rejection (AR) pathogenesis and its vast spectrum of clinical symptoms, no methodology (invasive or non-invasive) can provide all the information needed to identify functionally and prognostically relevant AR, treatment selection, and therapy monitoring early. Only the use of EMBs in combination with non-invasive technologies and methods to detect subclinical changes in myocardial contractile function (e.g., TDI and STE), to detect alloimmune activation (e.g., IM assay, assessment of complement-activating donor-specific anti-HLA Abs (DSAbs), screening of circulating cfdDNA), and to predict the imminent risk of immune-mediated injury (e.g., assessment of complement-activating DSAbs).Searching for both ACR and AMR in all EMBs is a key prerequisite for accurate diagnosis and decision-making in individuals suspected of AR. Close non-invasive allograft surveillance to detect patients at high risk of AR, along with properly planned EMBs (depending on the particular risk profile of the patient), can improve AR surveillance while decreasing rsEMBs. Because rsEMBs are less prevalent after the first post-HTx year and largely symptom-driven diagnostic EMBs, ongoing development of comprehensive, non-invasive technology to monitor both ACR and AMR is of significant importance. This is especially helpful for detecting late subclinical AMR, which would otherwise go unreported.The most useful and commonly available AR surveillance strategies are routine monitoring of myocardial functions utilizing sensitive ECHO techniques (TDI and STE for acute subclinical dysfunction diagnosis) and DSAb monitoring. As a result, early and late use of HTx is strongly suggested. New IM technologies such as T-cell function assays and genomic medicine approaches such as GEP, circulating dd-cfdDNA screening and microRNA assessment are promising non-invasive monitoring tools for future clinical use, but it is still necessary to test the practical value of their individual or combined use for AR detection (including both ACR and AMR), not just for ACR.

scholarly journals Influential factors of postoperative outcomes of symptomatic lateral discoid meniscus

2020 ◽  
Author(s):  
ShunJie Yang ◽  
Zhong-Jun Ding ◽  
Jian Li ◽  
Yang Xue ◽  
Gang Chen
Keyword(s):  
Clinical Symptoms ◽  
Age Of Onset ◽  
Arthroscopic Surgery ◽  
Lateral Meniscus ◽  
International Knee Documentation Committee ◽  
Influential Factors ◽  
Postoperative Outcomes ◽  
Discoid Lateral Meniscus ◽  
Ikdc Score ◽  
Male Sex

Abstract Background: Due to its abnormal morphology and ultrastructure, discoid lateral meniscus (DLM) is prone to tear and degeneration, leading to clinical symptoms. Arthroscopy is the main treatment for symptomatic DLM; however, postoperative outcomes vary widely due to the effects of diverse factors. This research aims to explore the factors influencing postoperative outcomes of symptomatic DLM. Methods: Patients with DLM who underwent arthroscopic surgery at our hospital from 9/2008 to 9/2015 were enrolled according to the inclusion and exclusion criteria. Fourteen variables, including sex, body mass index (BMI) and other variables, were chosen as factors for study. Knee function was assessed using the International Knee Documentation Committee (IKDC) score. Univariate analyses (Mann-Whitney U test or Kruskall-Wallis rank sum test) and multivariate analyses (ordinal logistic regression) were used to identify the factors that influenced postoperative outcomes. P<0.05 was considered statistically significant.Results: A total of 502 patients, including 353 females (70.3%) and 149 males (29.7%), were enrolled. The median IKDC score postoperatively (87.4; range, 41.4~97.7; IQR, 14.6) was higher than that preoperatively (57.6; range, 26.9~ 64.9; IQR, 9.7) (P<0.001). Male sex was predictive of a higher IKDC score (P=0.023, OR=1.702). Compared with BMI ≥25 kg/m2, <18.5 kg/m2 was associated with better IKDC score (P=0.026, OR=3.016). Contrasting with age of onset ≥45 years, ≤14 years (P<0.001, OR=20.780) and 14~25 years (P<0.001, OR=8.516) were associated with better IKDC score. In comparison with symptoms duration>24 months, IKDC scores for patients with symptoms duration ≤1 month (P=0.001, OR=3.511), 1 ~ 6 months (P < 0.001, OR = 3.463) and 6 ~ 24 months (P < 0.001, OR = 3.254) were significantly elevated. Compared to Outerbridge grade III ~ IV, no injury (P<0.001, OR=6.379) and grade I (P=0.01, OR=4.332) were associated with higher IKDC score.Conclusions: Arthroscopic treatment of symptomatic DLM is safe and effective, but its clinical efficacy is affected by many factors. Specifically, male sex, BMI < 18.5kg/m2, age of onset < 25 years (especially < 14 years) and symptoms duration < 24 months are conducive to good postoperative outcomes. However, combined articular cartilage injury (Outbridge grade≥2) reduces postoperative effect.

scholarly journals Hypothyroidism Presenting as Hoffman’s Syndrome – A Case Report

2015 ◽  
Vol 16 (2) ◽  
pp. 112-114
Author(s):  
NS Neki ◽  
Ishu Singh ◽  
Jasbir Kumar ◽  
Ankur Jain ◽  
Tamil Mani
Keyword(s):  
Case Report ◽  
Thyroid Function ◽  
Muscle Weakness ◽  
Muscle Biopsy ◽  
Muscle Hypertrophy ◽  
Thyroid Function Tests ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Muscle Enzyme ◽  
Marked Elevation

Hoffman syndrome is characterized by pseudohypertrophy of muscles, muscle’s weakness & stiffness complicating hypothyroidism. We describe the disorder in a 45 years old female admitted with complaints of myalgia, proximal muscle weakness & calf muscle hypertrophy since 11 months. Thyroid function tests, marked elevation of muscle enzyme, electromyogram & muscle biopsy established the diagnosis of thyroid myopathy with Hoffman’s syndrome. Therapy with levothyroxine resulted in marked clinical & biochemical improvements.J MEDICINE July 2015; 16 (2) : 112-114

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