Duchenne muscular dystrophy (DMD) occurs due to genetic mutations that lead to a deficiency in dystrophin production and consequent progressive degeneration of skeletal muscle fibres, through oxidative stress and an exacerbated inflammatory process. The flavonoid trilobatin (TLB) demonstrates antioxidant and anti-inflammatory potential. Its high safety profile and effective action make it a potent therapy for the process of dystrophic muscle myonecrosis. Thus, we sought to investigate the action of TLB on damage in a DMD model, the mdx mouse. Eight-week-old male animals were treated with 160 mg/kg/day of trilobatin for 8 weeks. Control animals were treated with saline. Following treatment, muscle strength, serum creatine kinase (CK) levels, histopathology (necrotic myofibres, regenerated fibres/central nuclei, Feret's diameter and inflammatory area) and the levels of catalase and NF-κB (western blotting) of the quadriceps (QUA), diaphragm (DIA) and tibialis anterior (TA) muscles were measured. TLB was able to significantly increase muscle strength and reduce serum CK levels in dystrophic animals. The QUA of mdx mice showed a reduction in catalase and the number of fibres with a centralized nucleus after treatment with TLB. In the DIA of dystrophic animals, TLB reduced the necrotic myofibres, inflammatory area and NF-κB and increased the number of regenerated fibres and the total fibre diameter. In TA, TLB increased the number of regenerated fibres and reduced catalase levels in these animals. It is concluded that in the mdx experimental model, treatment with TLB was beneficial in the treatment of DMD.
Flavonoids , Muscular Dystrophy, Duchenne , Polyphenols , Mice , Animals , Male , Muscular Dystrophy, Duchenne/drug therapy , Catalase , Mice, Inbred mdx , NF-kappa B , Muscle, Skeletal/pathology
In the last few decades, there have been considerable improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy. International guidelines have been published and recently reviewed. A group of Brazilian experts has developed a standard of care based on a literature review with evidence-based graded recommendations in a two-part publication. Implementing best practice management has helped change the natural history of this chronic progressive disorder, in which the life expectancy for children of the male sex in the past used to be very limited. Since the previous publication, diagnosis, steroid treatment, rehabilitation, and systemic care have gained more significant insights with new original work in certain fields. Furthermore, the development of new drugs is ongoing, and some interventions have been approved for use in certain countries. Therefore, we have identified the need to review the previous care recommendations for Brazilian patients with DMD. Our objective was to create an evidence-based document that is an update on our previous consensus on those topics.
Nas últimas décadas, houve progressos significativos no diagnóstico e no tratamento da distrofia muscular de Duchenne (DMD), considerada a distrofia muscular mais comum na infância. Diretrizes internacionais foram publicadas e revisadas recentemente. Um grupo de especialistas brasileiros desenvolveu um padrão de atendimento baseado em revisão de literatura, com recomendações graduadas pautadas em evidências compiladas em uma publicação dividida em duas partes. A implementação de melhores práticas de manejo ajudou a modificar a história natural desta doença crônica, progressiva, que, no passado, oferecia uma expectativa de vida muito limitada para crianças do sexo masculino. Desde a publicação desse consenso anterior, o diagnóstico, o tratamento com esteroides, a reabilitação e os cuidados sistêmicos ganharam novas possibilidades a partir da divulgação dos resultados de trabalhos originais em algumas dessas áreas. Além disso, as pesquisas e o desenvolvimento de novos fármacos estão em andamento, e algumas intervenções já foram aprovadas para uso em determinados países. Nesse contexto, identificamos a necessidade de rever as recomendações anteriores sobre o manejo dos pacientes brasileiros com DMD. Nosso objetivo principal foi elaborar uma atualização baseada em evidências sobre esses tópicos do consenso.
Muscular Dystrophy, Duchenne , Child , Humans , Male , Muscular Dystrophy, Duchenne/diagnosis , Brazil , Consensus
Introduction: the first COVID-19 case in Brazil was confirmed on February 26, 2020. As of March 17, 2023, the Ministry of Health reported 699,634 deaths from COVID-19, with a case fatality rate of 1.9%. The impact of the COVID-19 pandemic in Brazil extends to socioeconomic and healthcare systems, reflecting significant regional disparities. Objective: To analyze mortality, incidence, and case fatality rates for COVID-19 in the states of Paraná and Santa Catarina, in the southern region of Brazil. Methods: This is an ecological time-series study using official Brazilian secondary data for COVID-19 cases and deaths. Data were extracted from the dashboard of the State Health Department of Santa Catarina and Paraná. Temporal series were developed for trend analysis using the Prais-Winsten regression model. Statistical analyses were performed using STATA 14.0 software (College Station, TX, USA, 2013). Results: In the analysis of rates over the entire period, trends for mortality, case fatality, and incidence in the state of Santa Catarina are decreasing, decreasing, and stationary, respectively. In Paraná, rates over the entire period showed a stationary trend for mortality, decreasing for case fatality, and increasing for incidence. Conclusion: COVID-19 had a devastating effect on the states of Santa Catarina and Paraná. Both states experienced the progression of the COVID-19 pandemic, with higher case fatality and mortality rates observed in Paraná, while Santa Catarina had a higher incidence rate over the three years of the COVID-19 pandemic.
Abstract In the last few decades, there have been considerable improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy. International guidelines have been published and recently reviewed. A group of Brazilian experts has developed a standard of care based on a literature review with evidence-based graded recommendations in a two-part publication. Implementing best practice management has helped change the natural history of this chronic progressive disorder, in which the life expectancy for children of the male sex in the past used to be very limited. Since the previous publication, diagnosis, steroid treatment, rehabilitation, and systemic care have gained more significant insights with new original work in certain fields. Furthermore, the development of new drugs is ongoing, and some interventions have been approved for use in certain countries. Therefore, we have identified the need to review the previous care recommendations for Brazilian patients with DMD. Our objective was to create an evidence-based document that is an update on our previous consensus on those topics.
Resumo Nas últimas décadas, houve progressos significativos no diagnóstico e no tratamento da distrofia muscular de Duchenne (DMD), considerada a distrofia muscular mais comum na infância. Diretrizes internacionais foram publicadas e revisadas recentemente. Um grupo de especialistas brasileiros desenvolveu um padrão de atendimento baseado em revisão de literatura, com recomendações graduadas pautadas em evidências compiladas em uma publicação dividida em duas partes. A implementação de melhores práticas de manejo ajudou a modificar a história natural desta doença crônica, progressiva, que, no passado, oferecia uma expectativa de vida muito limitada para crianças do sexo masculino. Desde a publicação desse consenso anterior, o diagnóstico, o tratamento com esteroides, a reabilitação e os cuidados sistêmicos ganharam novas possibilidades a partir da divulgação dos resultados de trabalhos originais em algumas dessas áreas. Além disso, as pesquisas e o desenvolvimento de novos fármacos estão em andamento, e algumas intervenções já foram aprovadas para uso em determinados países. Nesse contexto, identificamos a necessidade de rever as recomendações anteriores sobre o manejo dos pacientes brasileiros com DMD. Nosso objetivo principal foi elaborar uma atualização baseada em evidências sobre esses tópicos do consenso.
Backgroung: There are few reports suggesting that gene expression and activation of various matrix metalloproteinases (MMPs) are deregulated. MMP-2 and MMP-9 represent the two MMPs, which degrade type IV collagen, the component of basement membrane. Methods: We analysed the involvement of gelatinases, MMP-2 and MMP-9, in the pathogenesis of myofibrillar myopathy (MFM). Muscle specimens from 23 patients well diagnosed with MFM, were immunostained by MMP-2 and MMP-9. We analysed qualitatively the immunoexpression in three compartments: subsarcolemmal (SSC), intracytoplasmic (ICC) and perinuclear (PNC).Results: 95,7% and 100% samples showed MMP-2 and MMP-9 upregulation ICC, respectively. PNC showed MMP-2 (82,6%) and MMP-9 (8,7%) regulation (p<0.001). SSC and ICC did not present statistical significance. There was no correlation between mutated gene and immunohistochemical pattern distribution.Conclusion: Our results suggest that MMP-2 and/or MMP-9 could participate in the pathomechanism of MFM, causing damage of sarcomere and deposition of protein aggregates.
Introdução: Existem poucos relatos sugerindo que a expressão gênica e a ativação de várias metaloproteinases de matriz (MMPs) estão desreguladas. MMP-2 e MMP-9 representam as duas MMPs, que degradam o colágeno tipo IV, o componente da membrana basal.Método: Analisamos o envolvimento das gelatinases, MMP-2 e MMP-9, na patogênese da miopatia miofibrilar (MFM). Amostras de músculos de 23 pacientes bem diagnosticados com MFM foram imunocoradas por MMP-2 e MMP-9. Analisamos qualitativamente a imunoexpressão em três compartimentos: subsarcolemal (SSC), intracitoplasmático (ICC) e perinuclear (PNC).Resultados: 95,7% e 100% das amostras apresentaram ICC de regulação positiva de MMP-2 e MMP-9, respectivamente. PNC mostrou regulação MMP-2 (82,6%) e MMP-9 (8,7%) (p <0,001). SSC e ICC não apresentaram significância estatística. Não houve correlação entre o gene mutado e a distribuição do padrão imunohistoquímico.Conclusão: Nossos resultados sugerem que MMP-2 e / ou MMP-9 podem participar do patomecanismo da MFM, causando dano ao sarcômero e deposição de agregados proteicos.
BACKGROUND: the involvement of the peripheral nervous system (PNS) in COVID-19 is rare and, to date, morphological aspects from muscle and nerve biopsies have not been reported. Here, we describe a case of Guillain-Barré Syndrome (GBS) related to COVID-19 and demonstrate findings from peripheral nerve and skeletal muscle biopsies. A 79-year-old man presented with progressive weakness in both legs over one-week, evolving to both arms and urinary retention within 6 days. Four days earlier, he had a cough, febrile sensation and mild respiratory discomfort. On admission, his was afebrile, and without respiratory distress. A neurological examination disclosed asymmetric proximal weakness, diminished reflexes and no sensitive abnormalities. Three days later, the patient presented with bilateral facial weakness and proximal muscle strength worsened. Deep tendon reflexes and plantar responses were absent. Both superficial and profound sensitivity were decreased. From this point, oxygen saturation worsened, and the patient was placed on mechanical ventilation. CSF testing revealed one cell and protein 185 mg/dl. A chest CT showed the presence of ground-glass opacities and RT-PCR for SARS-CoV-2 was positive. The muscle biopsy revealed moderate neuromyopathic findings with positive expression for MHC-class I, C5b9, CD8 and CD68. The nerve biopsy showed inflammatory infiltrates predominantly with endoneurial compound formed by CD45 and CD68. The patient was treated with Oseltamivir for 9 days followed by IVIG for 5 days and died three days later of septic shock. DISCUSSION: this is the first documented case of GBS associated with COVID-19 with a muscle and nerve anatomopathological study. A systematic review about neurological complications caused by COVID-19 described 11 patients with GBS. The morphological features reported in our patient showed signs of involvement of the immune system, suggesting that direct viral invasion could have played a role in the pathogenesis of peripheral nerve injury. Hereafter, further research will be necessary to understand the triggers for these cells migrating into the peripheral nerve.
INTRODUÇÃO: O envolvimento do sistema nervoso periférico (SNP) na COVID-19 é raro e, até o momento, os aspectos morfológicos de biópsias de músculo e nervo não foram relatados. Descrevemos um caso de Síndrome de Guillain-Barré (SGB) na vigência de COVID-19 destacando os achados na biopsia de músculo e nervo. Um homem de 79 anos apresentou fraqueza progressiva em ambas as pernas ao longo de uma semana, evoluindo para ambos os braços e retenção urinária em 6 dias. Quatro dias antes, apresentou tosse, sensação febril e leve desconforto respiratório. Na admissão, apresentava-se afebril e sem alteração respiratória. O exame neurológico mostrou fraqueza proximal assimétrica, reflexos diminuídos e sensibilidade preservada. Três dias após, o paciente evoluiu com fraqueza facial bilateral e piora da força muscular proximal. Reflexos tendinosos profundos e cutâneo plantar ausentes bilateralmente. A sensibilidade superficial e profunda estavam diminuídas. Evoluiu com piora na saturação de oxigênio sendo colocado sob ventilação mecânica. O exame de liquor revelou uma célula e aumento de proteína (185 mg / dl). A TC de tórax revelou a presença de opacidades em vidro fosco e o RT-PCR para SARS-CoV-2 foi positivo. A biópsia muscular mostrou achados neuromiopáticos moderados com imunoexpressão positiva para MHC classe I, C5b9, CD8 e CD68. A biópsia de nervo revelou infiltrado inflamatório inflamatórios predominantemente endoneural composto por CD45 e CD68. O paciente foi tratado com Oseltamivir por 9 dias seguido de IVIG por 5 dias indo a óbito após três dias por choque séptico. DISCUSSÃO: Este é o primeiro caso documentado de SGB associada a COVID-19 com estudo anatomopatológico de músculo e nervo. Uma revisão sistemática de complicações neurológicas associadas à COVID-19 descreveu 11 pacientes com SGB. As características morfológicas em nosso paciente mostrando sinais de envolvimento do sistema imunológico sugere que a invasão viral direta pode ter colaborado no processo patogênico da lesão neuromuscular. A partir daí, mais pesquisas serão necessárias para entender os gatilhos para essas células migrarem para o nervo periférico.
Humans , Male , Aged , Guillain-Barre Syndrome/virology , COVID-19/complications
Reducing body myopathy (RBM) is a rare disease marked by progressive muscle weakness caused by a mutation in FHL1 gene. We describe a new pathogenic variant and contrasted it with 44 other cases identified in the literature. A male child presented at age 3 suffering frequent falls and progressive muscular weakness. At age 8, he was wheelchair-bound and required ventilatory support. His mother and sister died due to the same problem. Creatine kinase was 428 IU/L (<190). Muscle biopsy showed typical reducing bodies, and genetic analysis identified a novel pathogenic hemizygous variant, c.370_375del. We identified 44 previous reported cases separated in two groups: 28 cases with mean age onset 7.6⯱â¯5 years and 16 with 26.7⯱â¯4.2 years. The time for the diagnosis was shorter to younger group. The initial symptoms, rigid spine, contractures, scoliosis and axial and neck weaknesses, dysphagia, cardiac involvement, were predominant in younger group. The variant c.369C > G predominated in younger group and c.448T > C in older one. Pathogenic variants positions seemed related to severe phenotype. Most wheelchair patients belonged to younger group. The data from this compilation and our case provided a general characterization spectrum and prognosis between two groups of age onset with RBM.
Intracellular Signaling Peptides and Proteins , LIM Domain Proteins , Muscle Proteins , Muscular Diseases/pathology , Adolescent , Adult , Biopsy , Child , Child, Preschool , Female , Genetic Diseases, X-Linked/pathology , Genetic Predisposition to Disease , Genetic Testing , Humans , LIM Domain Proteins/genetics , Male , Middle Aged , Muscle Proteins/genetics , Muscle, Skeletal/pathology , Muscular Diseases/genetics , Mutation , Mutation, Missense , Pedigree , Phenotype , Young Adult
Cannabinoids comprehend endocannabinoids, phytocannabinoids, and synthetic cannabinoids, with actions both in the central and peripherical nervous systems. A considerable amount of publications have been made in recent years, although cannabis has been known for over a thousand years. Scientific Departments from the Brazilian Academy of Neurology described evidence for medical use in their areas. Literature is constantly changing, and possible new evidence can emerge in the next days or months. Prescription of these substances must be discussed with patients and their families, with knowledge about adverse events and their efficacy.
Cannabinoids , Cannabis , Neurology , Brazil , Endocannabinoids , Humans
Spastic paraplegia type 7 (SPG7) is one of the most common forms of autosomal recessive hereditary spastic paraplegia, which can lead to a hybrid spastic-ataxic phenotype. Recently, novel complicated forms of SPG7, including cognitive and social impairment phenotypes, have been reported. We present a SPG7 case with two pathogenic variants in compound heterozygosity in the SPG7 gene, featuring a cerebellar cognitive affective syndrome with psychosis not yet described in the literature.
Cognitive Dysfunction , Psychotic Disorders , ATPases Associated with Diverse Cellular Activities/genetics , Cognitive Dysfunction/genetics , Humans , Metalloendopeptidases/genetics , Mutation , Phenotype , Psychotic Disorders/complications , Psychotic Disorders/genetics
ABSTRACT Cannabinoids comprehend endocannabinoids, phytocannabinoids, and synthetic cannabinoids, with actions both in the central and peripherical nervous systems. A considerable amount of publications have been made in recent years, although cannabis has been known for over a thousand years. Scientific Departments from the Brazilian Academy of Neurology described evidence for medical use in their areas. Literature is constantly changing, and possible new evidence can emerge in the next days or months. Prescription of these substances must be discussed with patients and their families, with knowledge about adverse events and their efficacy.
RESUMO Os canabinoides compreendem os endocanabinoides, fitocanabinoides e os canabinoides sintéticos e desempenham ações no sistema nervoso central e periférico. Uma quantidade enorme de publicações tem sido lançada nos últimos anos, embora a cannabis seja conhecida por milênios. Os Departamentos Científicos da Academia Brasileira de Neurologia descreveram as evidências do uso médico em suas áreas. A literatura está em constantes mudanças e possíveis novas evidências podem surgir nos próximos dias ou meses. A prescrição dessas substâncias deve ser discutida com os pacientes e suas famílias, com conhecimento sobre eventos adversos e sua eficácia.
Humans , Cannabinoids , Cannabis , Neurology , Brazil , Endocannabinoids
Dystrophin deficiency makes the sarcolemma fragile and susceptible to degeneration in Duchenne muscular dystrophy. The proteasome is a multimeric protease complex and is central to the regulation of cellular proteins. Previous studies have shown that proteasome inhibition improved pathological changes in mdx mice. Ixazomib is the first oral proteasome inhibitor used as a therapy in multiple myeloma. This study investigated the effects of ixazomib on the dystrophic muscle of mdx mice. MDX mice were treated with ixazomib (7.5 mg/kg/wk by gavage) or 0.2 mL of saline for 12 weeks. The Kondziela test was performed to measure muscle strength. The tibialis anterior (TA) and diaphragm (DIA) muscles were used for morphological analysis, and blood samples were collected for biochemical measurement. We observed maintenance of the muscle strength in the animals treated with ixazomib. Treatment with ixazomib had no toxic effect on the mdx mouse. The morphological analysis showed a reduction in the inflammatory area and fibres with central nuclei in the TA and DIA muscles and an increase in the number of fibres with a diameter of 20 µm2 in the DIA muscle after treatment with ixazomib. There was an increase in the expression of dystrophin and utrophin in the TA and DIA muscles and a reduction in the expression of osteopontin and TGF-ß in the DIA muscle of mdx mice treated with ixazomib. Ixazomib was thus shown to increase the expression of dystrophin and utrophin associated with improved pathological and functional changes in the dystrophic muscles of mdx mice.
Boron Compounds/pharmacology , Dystrophin/drug effects , Glycine/analogs & derivatives , Muscle, Skeletal/drug effects , Muscular Dystrophy, Duchenne , Protease Inhibitors/pharmacology , Animals , Dystrophin/metabolism , Glycine/pharmacology , Mice, Inbred mdx , Muscle, Skeletal/metabolism , Muscle, Skeletal/pathology , Utrophin/drug effects , Utrophin/metabolism
PURPOSE OF REVIEW: Concerning adverse neuromuscular effects, there are quite a few reports about the incidence and prevalence of chloroquine (CQ) and hydroxychloroquine (HCQ) myopathy. Given the above, I decided to explore the relationships of these drugs with skeletal muscle in an attempt to clarify how they affect the muscle now and in the future, as millions of people are using CQ and HCQ. RECENT FINDINGS: The literature review identified 28 publications about CQ/HCQ myopathy, totaling 56 patients, from 1963 to 2020. A compilation of all patients was carried out by computing demographic features, clinical aspects, laboratory exams, and clinical evolution. All articles but two represented a large series about incidence and prevalence of the myopathy. Fifty-nine percent used QC, mean daily dose was 393 mg per day, and mean duration of treatment was 37 months. The predominant underlying diseases were rheumatoid arthritis (42.8%) and lupus erythematosus (26.8%). Respiratory distress was present in 12.5% in patients with proximal muscle weakness (87.2%). Dysphagia and cervical and axial weakness were observed in a smaller percentage. Creatine kinase was elevated in 60.7%, and EMG showed a myopathic pattern in 54%. Muscle biopsy showed a vacuolar pattern in 53.7%, and curvilinear bodies (CB) were the predominant ultrastructural finding (86.8%). After drug withdrawal, 85.4% of patients improved, and 12.7% died from other causes than myopathy. SUMMARY: CQ and HCQ myopathy has been known for a long time, but the incidence is low, being described only with long-term use. The use of these drugs for a short period has not been reported, although a prolonged elimination half-life of these drugs actually exists.
This study describes the functional and morphological alterations in the intestines of mdx mice (n = 4) compared with the intestinal features of C57BL/10 mice (n = 7) at 2 months of age. The whole gut transit time (carmine red) and the upper gut transit time (activated charcoal) were measured, and light microscopy was utilized to view stained sections (H&E and picrosirius red) for histological analysis. No significant difference in mean evacuation time for the whole gut was observed between the two groups, but a significant delay in activated charcoal passage was observed in the mdx mice. Visually, a higher concentration of collagen fibers in the submucosal region was apparent in the mdx mice. The concentration of collagen fibers in the stomach and small intestine suggests a direct relationship with the decrease in motility of the upper gastrointestinal tract in the mdx mice. Further experimental studies should be conducted to develop therapeutic alternatives to collagen inhibition to control these manifestations.
Elastic Tissue/physiopathology , Gastrointestinal Tract/physiopathology , Gastrointestinal Transit , Muscular Dystrophy, Duchenne/physiopathology , Animals , Carmine/administration & dosage , Charcoal/administration & dosage , Collagen/metabolism , Disease Models, Animal , Elastic Tissue/pathology , Gastrointestinal Tract/pathology , Histocytochemistry , Male , Mice , Mice, Inbred C57BL , Mice, Inbred mdx , Muscular Dystrophy, Duchenne/pathology , Time Factors
BACKGROUND: Protein aggregate myopathies (PAM) represent a group of familial or sporadic neuromuscular conditions with marked clinical and genetic heterogeneity that occur in children and adults. Familial PAM includes myofibrillar myopathies defined by the presence of desmin-positive protein aggregates and degenerative intermyofibrillar network changes. PAM is often caused by dysfunctional genes, such as DES, PLEC 1, CRYAB, FLNC, MYOT, ZASP, BAG3, FHL1, and DNAJB6. OBJECTIVE: To retrospectively analyze genetic mutations and demographic, clinical, and morphological aspects of PAM in a French population. METHODS: Forty-eight PAM patients (29 men, 19 women) were divided into two groups, those with genetically (GIM) and nongenetically identified (NGIM) mutations associated with myofibrillar myopathy. RESULTS: Age of myopathy onset ranged from 13 to 68 years. GIM group mutations (81.25%) included DES (14), ZASP (8), FLNC (4), MYOT (4), BAG3 (1), CRYAB (2), and DNAJB6 (6). The MYOT subgroup displayed a significantly older onset age (p = 0.029). Autosomal dominant inheritance was found in 74.3% of GIM and 44.4% of NGIM subjects. Overall, 22.9% had Maghrebian heritage, 72.9% Caucasian, and 4.2% Asian. The most common clinical sign was distal muscle weakness (66%) followed by simultaneous distal and proximal weakness in 49%. Eleven patients had contractures, one had a rigid spine, and five had respiratory dysfunction. GIM subjects had greater cardiac involvement (51.7%) versus the NGIM group (33.3%). The average serum creatine kinase level was 393 U/L in GIM and 382 U/L in NGIM subjects. Morphological analysis showed significant differences among GIM subgroups, including the number of vacuoles and regenerated fibers (ZASP), group atrophy (ZASP), and rubbed out fibers (MYOT). Ultrastructural findings showed significant differences in intranuclear rods, Z-disc thickness, and intranuclear inclusions between gene mutation subgroups. Paracrystalline inclusions were present in three patients (DNAJB6). The most frequent mutation in was in DES, followed by ZASP. CONCLUSIONS: GIM and NGIM PAM subjects showed similar results, suggesting that any unknown genes, which cause this disease have characteristics similar to those already described. Considering the complexity of clinical, morphological, and genetic data related to PAM, particularly myofibrillar myopathies, physicians should be careful when diagnosing patients with sporadic PAM.
Mutation , Myopathies, Structural, Congenital/genetics , Adolescent , Adult , Age of Onset , Aged , Cohort Studies , Demography , Female , France , Genes, Dominant , Humans , Male , Middle Aged , Muscle, Skeletal/ultrastructure , Myopathies, Structural, Congenital/pathology , Retrospective Studies , Young Adult
Necrotizing autoimmune myopathy is characterized by predominant muscle fiber necrosis and regeneration with little or no inflammation. We describe a 58-year-old woman with previous breast cancer and statin use who complained of rapidly progressive weakness of lower limbs without pain, making walking, running and climbing stairs difficult. The creatine kinase level was 2,843 U/L, and muscle biopsy showed a dystrophic pattern. The genetic test for muscular dystrophies was negative and for anti-3-hydroxy-3-methylglutaryl coenzyme A reductase was positive. Intravenous immunoglobulin was administered, which showed mild improvement. Unfortunately, she took a step and collapsed to the floor, which led to the fracture of right femur delaying her improvement. The diagnosis of necrotizing autoimmune myopathy is sometimes delayed due to the atypical pathologic findings on muscle biopsy. As the disease is a severe condition, prompt recognition can lead to a successful outcome. We advise to consider this entity as a differential diagnosis among muscular dystrophies.
Duchenne muscular dystrophy is the most frequent lethal genetic disease. Several clinical trials have established both the beneficial effect of steroids in Duchenne muscular dystrophy and the well-known risk of side effects associated with their daily use. For many years it has been known that steroids associated with ambulation loss lead to obesity and also damage the bone structure resulting in the bone density reduction and increased incidence of bone fractures and fat embolism syndrome, an underdiagnosed complication after fractures. Fat embolism syndrome is characterized by consciousness disturbance, respiratory failure and skin rashes. The use of steroids in Duchenne muscular dystrophy may result in vertebral fractures, even without previous trauma. Approximately 25% of patients with Duchenne muscular dystrophy have a long bone fracture, and 1% to 22% of fractures have a chance to develop fat embolism syndrome. As the patients with Duchenne muscular dystrophy have progressive cardiac and respiratory muscle dysfunction, the fat embolism may be unnoticed clinically and may result in increased risk of death and major complications. Different treatments and prevention measures of fat embolism have been proposed; however, so far, there is no efficient therapy. The prevention, early diagnosis and adequate symptomatic treatment are of paramount importance. The fat embolism syndrome should always be considered in patients with Duchenne muscular dystrophy presenting with fractures, or an unexplained and sudden worsening of respiratory and cardiac symptoms.
INTRODUÇÃO: a depressão, além de causar grande sofrimento psíquico, pode levar a prejuízos no desempenho acadêmico e nos relacionamentos sociais. OBJETIVO: estimar a prevalência de sintomas depressivos e sua associação com aspectos sociodemográficos e psicossociais em estudantes de medicina de uma região do Sertão Nordestino, Brasil. MÉTODO: apopulação foi constituída por 1024 estudantes do primeiro ao décimo segundo períodos do curso de medicina de duas escolas médicas do Cariri, Sertão Nordestino, Ceará, Brasil. Utilizou-se o questionário de caracterização sociodemográfica e o Inventário de Depressão de Beck versão II. RESULTADOS: a prevalência encontrada nessa população para o diagnóstico de depressão foi de 28,8%. 652 (63,7%) cumpriram com todos os protocolos para permanência na pesquisa. Apresentaram impacto negativo na saúde mental dos estudantes no modelo ajustado de regressão logística: sexo feminino OddsRatio ajustado (ORa) (IC95%): 1,83(1,19-2,82), saúde física razoável ORa (IC95%): 3,15(2,09-4,73), incerteza quanto ao futuro profissional ORa (IC95%): 2,97(1,65-5,34), desejo de mudar de curso ORa (IC95%):2,51(1,63-3,86), relacionamento social bom porém sem participação de atividades sociais ORa (IC95%): 1,96(1,27-3,04),dificuldades de relacionamento ORa (IC95%): 11,40(4,32-30,14) e raras atividades de lazer ORa (IC95%): 2,45(1,49-4,04) ou esporádicas atividades de lazer ORa (IC95%): 3,04(1,70-5,42. CONCLUSÃO: observou-se alta prevalência de depressão nos estudantes de medicina nesta região. Sexo feminino, saúde física razoável, incerteza quanto ao futuro profissional, desejo de mudar de curso, não participação de atividades sociais e/ou dificuldades de relacionamentos, esporádica ou rara atividade de lazer foram associados a maior chance de desenvolver sintomas depressivos.(AU)
INTRODUCTION: depression, besides causing great psychological distress, may lead to poor academic performance and social relationships. OBJECTIVE: to examine the prevalence of depressive symptoms in medical students from a northeastern region of Brazil. METHODS: the population comprised 1024 students from first to twelfth semesters of two medical schools in Cariri, Ceará, Brazil. We used the questionnaire on sociodemographic characteristics and the Beck Depression Inventory II version. RESULTS: the prevalence in this population for the diagnosis of depression was 28.8%.652 (63.7%) complied with all protocols to stay in research. After logistic regression, had a negative impact on studentsmental health: female Odds Ratio adjusted (ORa) (95% CI): 1.83 (1.19 to 2.82), reasonable physical health ORa (95% CI): 3.15 (2 0.09 to 4, 73), uncertainty about professional future ORa (95% CI): 2.97 (1.65 to 5.34), desire to change course ORa (95% CI): 2.51 (1.63 to 3.86), good social relationship but without participation in social activities ORa (95% CI): 1.96 (1.27 to 3.04), relationship difficulties ORa (95% CI): 11.40 (4.32 to 30.14) and rare leisure activities (95% CI): 2.45 (1.49 to 4.04) or eventual leisure activities ORa (95% CI): 3.04 (1.70 to 5.42). CONCLUSION: there was a high prevalence of depression among medical students in this region. Female, reasonable physical health, uncertainty over future career, desire to change course, do not participate in social activities and / or difficulties in relationships, sporadic or rare leisure activity were associated with increased risk of developing depressive symptoms.(AU)
Humans , Male , Female , Students, Medical , Education, Medical , Depression , Prevalence , Learning Disabilities
INTRODUÇÃO: a depressão, além de causar grande sofrimento psíquico, pode levar a prejuízos no desempenho acadêmico e nos relacionamentos sociais. OBJETIVO: estimar a prevalência de sintomas depressivos e sua associação com aspectos sociodemográficos e psicossociais em estudantes de medicina de uma região do Sertão Nordestino, Brasil. MÉTODO: apopulação foi constituída por 1024 estudantes do primeiro ao décimo segundo períodos do curso de medicina de duas escolas médicas do Cariri, Sertão Nordestino, Ceará, Brasil. Utilizou-se o questionário de caracterização sociodemográfica e o Inventário de Depressão de Beck versão II. RESULTADOS: a prevalência encontrada nessa população para o diagnóstico de depressão foi de 28,8%. 652 (63,7%) cumpriram com todos os protocolos para permanência na pesquisa. Apresentaram impacto negativo na saúde mental dos estudantes no modelo ajustado de regressão logística: sexo feminino OddsRatio ajustado (ORa) (IC95%): 1,83(1,19-2,82), saúde física razoável ORa (IC95%): 3,15(2,09-4,73), incerteza quanto ao futuro profissional ORa (IC95%): 2,97(1,65-5,34), desejo de mudar de curso ORa (IC95%):2,51(1,63-3,86), relacionamento social bom porém sem participação de atividades sociais ORa (IC95%): 1,96(1,27-3,04),dificuldades de relacionamento ORa (IC95%): 11,40(4,32-30,14) e raras atividades de lazer ORa (IC95%): 2,45(1,49-4,04) ou esporádicas atividades de lazer ORa (IC95%): 3,04(1,70-5,42. CONCLUSÃO: observou-se alta prevalência de depressão nos estudantes de medicina nesta região. Sexo feminino, saúde física razoável, incerteza quanto ao futuro profissional, desejo de mudar de curso, não participação de atividades sociais e/ou dificuldades de relacionamentos, esporádica ou rara atividade de lazer foram associados a maior chance de desenvolver sintomas depressivos.
INTRODUCTION: depression, besides causing great psychological distress, may lead to poor academic performance and social relationships. OBJECTIVE: to examine the prevalence of depressive symptoms in medical students from a northeastern region of Brazil. METHODS: the population comprised 1024 students from first to twelfth semesters of two medical schools in Cariri, Ceará, Brazil. We used the questionnaire on sociodemographic characteristics and the Beck Depression Inventory II version. RESULTS: the prevalence in this population for the diagnosis of depression was 28.8%.652 (63.7%) complied with all protocols to stay in research. After logistic regression, had a negative impact on studentsmental health: female Odds Ratio adjusted (ORa) (95% CI): 1.83 (1.19 to 2.82), reasonable physical health ORa (95% CI): 3.15 (2 0.09 to 4, 73), uncertainty about professional future ORa (95% CI): 2.97 (1.65 to 5.34), desire to change course ORa (95% CI): 2.51 (1.63 to 3.86), good social relationship but without participation in social activities ORa (95% CI): 1.96 (1.27 to 3.04), relationship difficulties ORa (95% CI): 11.40 (4.32 to 30.14) and rare leisure activities (95% CI): 2.45 (1.49 to 4.04) or eventual leisure activities ORa (95% CI): 3.04 (1.70 to 5.42). CONCLUSION: there was a high prevalence of depression among medical students in this region. Female, reasonable physical health, uncertainty over future career, desire to change course, do not participate in social activities and / or difficulties in relationships, sporadic or rare leisure activity were associated with increased risk of developing depressive symptoms.
Humans , Male , Female , Depression , Education, Medical , Learning Disabilities , Prevalence , Students, Medical
INTRODUCTION: There are few epidemiologic studies concerning Guillain-Barré syndrome (GBS). Due to difficulties with definition and lack of a standard diagnostic test of reference, GBS is not easy to study epidemiologically. We evaluate some epidemiological features of GBS in a sample of cases treated at a tertiary hospital in São Paulo, Brazil. METHOD: We retrospectively reviewed all cases of GBS with hospitalization in Santa Marcelina hospital, over the period of January 1995 through December 2002. RESULTS: Ninety-five cases were included in this study. Fifty-five were men and forty women, with a proportion of 1.4 men to 1 woman. The age ranged from 1 to 83 years with a mean age at onset of 34 years. GBS was less frequently observed below 15 years (18.9%) and above 60 years (16.9%). The highest frequency was observed in patients aged 15 to 60 years old (66.2%). The annual incidence rate was 0.6 cases/100,000 people. There was a highest frequency of cases during the months of September through March (62.1%). CONCLUSION: Our data differs from that of other epidemiological studies in that we did not observe a bimodal distribution in age and found a seasonal pattern in hotter months.
Guillain-Barre Syndrome/epidemiology , Adolescent , Adult , Age Distribution , Aged , Aged, 80 and over , Brazil/epidemiology , Child , Child, Preschool , Female , Humans , Incidence , Infant , Male , Middle Aged , Retrospective Studies , Seasons
