RESUMO
Calcific myonecrosis (CM), a rare post-traumatic sequel of the lower limb, is characterized by calcified lesions. A diagnosis of CM can be difficult owing to the longtime span from the emergence of the original trauma to the onset of the symptoms of CM. This case report aimed to feature a case of a 55-year-old gentleman who presented with a progressive painful swelling in the anterolateral aspect of the right lower leg with the initial trauma arising 11 years ago. In the conservative treatment, a fluid-filled mass was formed. The histological examination of the biopsy suggested a diagnosis of CM. The patient underwent a complete debridement operation, after which vacuum sealing drainage was used to manage the space left. Three weeks later, direct wound closure was achieved. Five-year follow-ups showed an excellent outcome without recurrence. Complete surgical debridement combined with primary closure is recommended to manage CM. Cite this article as: Wang C, Hao D, Wang S. Management of calcific myonecrosis using vacuum sealing drainage: A rare case report and 5-year follow-up. Acta Orthop Traumatol Turc., 2024;58(2):135-139.
Assuntos
Calcinose , Desbridamento , Drenagem , Necrose , Humanos , Masculino , Pessoa de Meia-Idade , Desbridamento/métodos , Necrose/cirurgia , Calcinose/cirurgia , Drenagem/métodos , Tratamento de Ferimentos com Pressão Negativa/métodos , Seguimentos , Músculo Esquelético/cirurgia , Doenças Musculares/cirurgia , Doenças Musculares/etiologia , Doenças Musculares/diagnósticoRESUMO
BACKGROUND: Glycogen storage disorder (GSD) type IIIa is a rare inherited genetic disorder affecting liver and muscle tissue. Liver transplantation (LT) improves metabolic control, but muscle involvement persists. CASE: We report the case of a 31-year-old man who underwent orthotopic LT for end-stage liver disease caused by GSD type IIIa. After LT, he developed worsening clinical signs of myopathy, along with exponentially increasing levels of aspartate aminotransferase (AST) and alanine aminotransferase (ALT) and creatine kinase. Liver-related elevations of AST and ALT were excluded through liver biopsy and endoscopic cholangiography; consequently, AST and ALT elevations were attributed to the underlying muscle involvement. Exacerbation of muscle disease after LT could be attributed to restoration of liver glycogen metabolism after LT, leading to increased glucose accumulation in muscle cells, where the gene defect persists. A dietary intervention with a high-protein, ketogenic diet was initiated but did not lead to significant improvement of myalgia. CONCLUSION: LT exacerbated muscle disease in a patient with GSD type IIIa. Patients should be counseled about this possible side effect of LT in GSD type IIIa.
Assuntos
Transplante de Fígado , Doenças Musculares , Humanos , Masculino , Adulto , Doenças Musculares/etiologia , Doença de Depósito de Glicogênio Tipo III/genética , Doença de Depósito de Glicogênio Tipo III/cirurgiaRESUMO
We present the case of a 79-year-old man with rapidly progressive myopathy as the initial manifestation of light chain amyloidosis associated with multiple myeloma. The patient experienced progressive lower limb weakness resulting in difficulty climbing stairs. Ancillary tests revealed slightly elevated serum creatine kinase levels. The electromyogram revealed a diffuse myogenic pattern while muscle MRI indicated fatty replacement of the quadriceps muscles. Muscle biopsy revealed the presence of amyloid deposits in the vessel walls. An elevated level of lambda (246 mg/L) light chain was detected. The bone marrow aspiration results were consistent with the diagnosis of multiple myeloma. In conclusion, even if amyloid myopathy is a rare condition, routine screening for amyloid deposits in muscle biopsy is crucial and should be performed systematically. In the present case, it enabled a rapid diagnosis and the beginning of treatment.
Assuntos
Mieloma Múltiplo , Doenças Musculares , Humanos , Masculino , Idoso , Mieloma Múltiplo/complicações , Mieloma Múltiplo/diagnóstico , Doenças Musculares/etiologia , Doenças Musculares/patologia , Doenças Musculares/diagnóstico , Amiloidose/complicações , Amiloidose/diagnóstico , Músculo Esquelético/patologia , Progressão da Doença , Eletromiografia , Amiloidose de Cadeia Leve de Imunoglobulina/complicações , Amiloidose de Cadeia Leve de Imunoglobulina/patologia , Amiloidose de Cadeia Leve de Imunoglobulina/diagnósticoRESUMO
Stereotactic body radiotherapy is a highly effective form of radiation therapy for palliation of bone metastases, but it can also lead to rare but severe side effects, such as myonecrosis. According to the literature, the incidence of myonecrosis after stereotactic body radiotherapy is low and mostly dose dependent. It is crucial to consider the potential impact of immunotherapy and other systemic therapies in the assessment. The course of radiation myonecrosis can vary, and corticosteroids or vascular endothelial growth factor inhibitors may potentially play a role in its treatment. Herein, we report two patients presenting with myonecrosis after stereotactic body radiotherapy for bone metastasis.
Assuntos
Neoplasias Ósseas , Necrose , Radiocirurgia , Humanos , Radiocirurgia/efeitos adversos , Necrose/etiologia , Neoplasias Ósseas/secundário , Neoplasias Ósseas/radioterapia , Masculino , Idoso , Pessoa de Meia-Idade , Feminino , Doenças Musculares/etiologia , Lesões por Radiação/etiologia , Músculo Esquelético/patologiaRESUMO
This study aimed to determine whether electrical stimulation-based twitch exercise is effective in inhibiting the progression of immobilization-induced muscle fibrosis. 19 Wistar rats were randomly divided into a control group (n=6), an immobilization group (n=6; with immobilization only), and a Belt group (n=7; with immobilization and twitch exercise through the belt electrode device, beginning 2 weeks after immobilization). The bilateral soleus muscles were harvested after the experimental period. The right soleus muscles were used for histological analysis, and the left soleus muscles were used for biochemical and molecular biological analysis. As a result, in the picrosirius red images, the perimysium and endomysium were thicker in both the immobilization and Belt groups compared to the control group. However, the perimysium and endomysium thickening were suppressed in the Belt group. The hydroxyproline content and alpha-SMA, TGF-beta1, and HIF-1alpha mRNA expressions were significantly higher in the immobilization and belt groups than in the control group. These expressions were significantly lower in the Belt group than in the immobilization group. The capillary-to-myofiber ratio and the mRNA expressions of VEGF and PGC-1alpha were significantly lower in the immobilization and belt groups than in the control group, these were significantly higher in the Belt group than in the immobilization group. From these results, Electrical stimulation-based twitch exercise using the belt electrode device may prevent the progression of immobilization-induced muscle fibrosis caused by downregulating PGC-1alpha/VEGF pathway, we surmised that this intervention strategy might be effective against the progression of muscle contracture. Keywords: Immobilization, Skeletal muscle, Fibrosis, Electrical stimulation-based twitch exercise, PGC-1alpha/VEGF pathway.
Assuntos
Regulação para Baixo , Fibrose , Músculo Esquelético , Coativador 1-alfa do Receptor gama Ativado por Proliferador de Peroxissomo , Fator A de Crescimento do Endotélio Vascular , Animais , Masculino , Ratos , Progressão da Doença , Estimulação Elétrica , Terapia por Estimulação Elétrica/métodos , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Doenças Musculares/metabolismo , Doenças Musculares/patologia , Doenças Musculares/prevenção & controle , Doenças Musculares/etiologia , Coativador 1-alfa do Receptor gama Ativado por Proliferador de Peroxissomo/metabolismo , Condicionamento Físico Animal/fisiologia , Ratos Wistar , Transdução de Sinais/fisiologia , Fator A de Crescimento do Endotélio Vascular/metabolismo , Fator A de Crescimento do Endotélio Vascular/genéticaRESUMO
Cancer cachexia-associated muscle wasting as a multifactorial wasting syndrome, is an important factor affecting the long-term survival rate of tumor patients. Photobiomodulation therapy (PBMT) has emerged as a promising tool to cure and prevent many diseases. However, the effect of PBMT on skeletal muscle atrophy during cancer progression has not been fully demonstrated yet. Here, we found PBMT alleviated the atrophy of myotube diameter induced by cancer cells in vitro, and prevented cancer-associated muscle atrophy in mice bearing tumor. Mechanistically, the alleviation of muscle wasting by PBMT was found to be involved in inhibiting E3 ubiquitin ligases MAFbx and MuRF-1. In addition, transcriptomic analysis using RNA-seq and GSEA revealed that PI3K/AKT pathway might be involved in PBMT-prevented muscle cachexia. Next, we showed the protective effect of PBMT against muscle cachexia was totally blocked by AKT inhibitor in vitro and in vivo. Moreover, PBMT-activated AKT promoted FoxO3a phosphorylation and thus inhibiting the nucleus entry of FoxO3a. Lastly, in cisplatin-treated muscle cachexia model, PBMT had also been shown to ameliorate muscle atrophy through enhancing PI3K/AKT pathway to suppress MAFbx and MuRF-1 expression. These novel findings revealed that PBMT could be a promising therapeutic approach in treating muscle cachexia induced by cancer.
Assuntos
Caquexia , Proteína Forkhead Box O3 , Doenças Musculares , Neoplasias , Fosfatidilinositol 3-Quinases , Proteínas Proto-Oncogênicas c-akt , Síndrome de Emaciação , Caquexia/etiologia , Caquexia/metabolismo , Caquexia/terapia , Doenças Musculares/etiologia , Doenças Musculares/metabolismo , Doenças Musculares/terapia , Neoplasias/complicações , Redes e Vias Metabólicas , Fosfatidilinositol 3-Quinases/genética , Fosfatidilinositol 3-Quinases/metabolismo , Proteínas Proto-Oncogênicas c-akt/genética , Proteínas Proto-Oncogênicas c-akt/metabolismo , Proteína Forkhead Box O3/genética , Proteína Forkhead Box O3/metabolismo , Síndrome de Emaciação/etiologia , Síndrome de Emaciação/metabolismo , Síndrome de Emaciação/terapia , Animais , Modelos Animais de Doenças , Camundongos , Linhagem Celular , Masculino , Camundongos Endogâmicos BALB C , Perfilação da Expressão GênicaAssuntos
Doença Enxerto-Hospedeiro , Humanos , Doença Enxerto-Hospedeiro/patologia , Doença Enxerto-Hospedeiro/etiologia , Masculino , Doenças Musculares/etiologia , Doenças Musculares/patologia , Doenças Musculares/imunologia , Doença Crônica , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Pessoa de Meia-Idade , Feminino , Adulto , Síndrome de Bronquiolite ObliteranteRESUMO
Steroids are broadly used in oncology, despite known adverse events such as glucocorticosteroid-induced myopathy (SM). To date there are no accepted guidelines on the diagnosis and treatment of SM. The purpose of this review is to provide up-to-date information regarding SM with emphasis on neuro-oncology and hematopoietic stem cell transplant patients, given they are at high risk of experiencing SM following routine treatment with steroids. Our work is a combination of a comprehensive narrative review regarding etiology, pathogenesis, incidence, clinical presentation and treatment options for SM and a scoping review on exercise therapy for SM. We have identified 24 in vivo studies of different exercise modalities in the settings of glucocorticosteroid treatment. Twenty of 24 studies demonstrated decreased muscle catabolism with exercise training. Both endurance and resistance exercises at mild to moderate intensity were beneficial. The value of high-intensity activities remains questionable as it may worsen muscle atrophy. Rehabilitation interventions, along with pharmacologic and dietary considerations, may be beneficial in preventing or reversing SM. Potential adverse events of some of these interventions and expected caveats in translating findings in preclinical models to human settings warrant caution and demand controlled clinical studies.
Assuntos
Terapia por Exercício , Doenças Musculares , Neoplasias , Humanos , Doenças Musculares/induzido quimicamente , Doenças Musculares/etiologia , Doenças Musculares/reabilitação , Terapia por Exercício/métodos , Glucocorticoides/efeitos adversos , Glucocorticoides/administração & dosagemRESUMO
AIM: The study aims to review all the genetically confirmed STAC3-related myopathy being followed in a single center in the Eastern Province of Saudi Arabia. METHODOLOGY: A retrospective review of all genetically confirmed STAC3-related myopathy followed in our clinic has been conducted. RESULTS: 7 patients with STAC3-related myopathy have been found in our cohort, with all the patients presenting with infantile hypotonia, myopathic facies, and muscle weakness in the first year of life. Feeding difficulties and failure to thrive were found in all patients except one who died during the neonatal period. Respiratory muscle involvement was also found in 5 out of 6 formally tested patients while cleft palate was found in 5 patients. CONCLUSION: STAC3-related myopathy is a relatively rare, malignant hyperthermia (MH)--causing muscle disease described in specific, highly consanguineous populations. Making the diagnosis in myopathic patients with cleft palate preoperatively can prevent MH-induced, anesthesia-related perioperative complications.
Assuntos
Doenças Musculares , Humanos , Estudos de Coortes , Doenças Musculares/diagnóstico , Doenças Musculares/etiologia , Estudos Retrospectivos , Arábia SauditaRESUMO
Weakness of limb and respiratory muscles that occurs in the course of critical illness has become an increasingly common and serious complication of adult and pediatric intensive care unit patients and a cause of prolonged ventilatory support, morbidity, and prolonged hospitalization. Two motor disorders that occur singly or together, namely critical illness polyneuropathy and critical illness myopathy, cause weakness of limb and of breathing muscles, making it difficult to be weaned from ventilatory support, commencing rehabilitation, and extending the length of stay in the intensive care unit, with higher rates of morbidity and mortality. Recovery can take weeks or months and in severe cases, and may be incomplete or absent. Recent findings suggest an improved prognosis of critical illness myopathy compared to polyneuropathy. Prevention and treatment are therefore very important. Its management requires an integrated team approach commencing with neurologic consultation, creatine kinase (CK) measurement, detailed electrodiagnostic, respiratory and neuroimaging studies, and potentially muscle biopsy to elucidate the etiopathogenesis of the weakness in the peripheral and/or central nervous system, for which there may be a variety of causes. These tenets of care are being applied to new cases and survivors of the coronavirus-2 disease pandemic of 2019. This chapter provides an update to the understanding and approach to critical illness motor disorders.
Assuntos
COVID-19 , Transtornos Motores , Doenças Musculares , Polineuropatias , Adulto , Criança , Humanos , Transtornos Motores/complicações , Estado Terminal , COVID-19/complicações , Doenças Musculares/diagnóstico , Doenças Musculares/etiologia , Polineuropatias/diagnóstico , Polineuropatias/terapia , Unidades de Terapia Intensiva , Debilidade Muscular/complicações , Debilidade Muscular/diagnósticoRESUMO
Approaches for the diagnosis of wooden breast (WB) myopathy in live birds are urgently required before applying intervention strategies to reduce occurrence and severity for the poultry industry. The objective of this study was to characterize the serum metabolic profiles in male broilers affected by WB and to identify biomarkers related to this myopathy. Broilers were categorized into normal (CON) and WB groups based on gross scoring and histological evaluation. Gas chromatography-mass spectrometry-based metabolomics, multivariate analysis, and orthogonal partial least squares discriminant analysis revealed a clear separation between CON and WB. A total of 73 significantly different (P < 0.05) metabolites with 17 upregulated and 56 downregulated were identified, which were mainly involved in pathways of alanine, aspartate, and glutamate metabolism, carbohydrate metabolism, and taurine and hypotaurine metabolism. By using the nested cross-validation function of random forest analysis, 9 significantly altered (P < 0.05) metabolites (cerotinic acid, arabitol, phosphoenolpyruvate, terephthalic acid, cis-gondoic acid, N-acetyl-d-glucosamine, 4-hydroxymandelic acid, caffeine, and xanthurenic acid) were identified as biomarkers with an excellent discriminant performance for WB myopathy. Collectively, this study provides new insights for a deeper understanding of the pathogenesis and provides metabolites as biomarkers for diagnostic utilization of WB myopathy.
Assuntos
Galinhas , Doenças Musculares , Masculino , Animais , Cromatografia Gasosa-Espectrometria de Massas/veterinária , Doenças Musculares/diagnóstico , Doenças Musculares/veterinária , Doenças Musculares/etiologia , Metabolômica , BiomarcadoresRESUMO
We present a cluster of patients with osteomalacic myopathy in the aftermath of the COVID-19 pandemic. We believe that the home confinement of these children may have contributed to the resurgence of this condition. This deficiency is eminently reversible.
Assuntos
COVID-19 , Doenças Musculares , Raquitismo , Deficiência de Vitamina D , Criança , Humanos , Deficiência de Vitamina D/epidemiologia , Vitamina D , Pandemias , COVID-19/epidemiologia , Doenças Musculares/diagnóstico , Doenças Musculares/epidemiologia , Doenças Musculares/etiologiaRESUMO
Significance: An estimated 700 million people globally suffer from chronic kidney disease (CKD). In addition to increasing cardiovascular disease risk, CKD is a catabolic disease that results in a loss of muscle mass and function, which are strongly associated with mortality and a reduced quality of life. Despite the importance of muscle health and function, there are no treatments available to prevent or attenuate the myopathy associated with CKD. Recent Advances: Recent studies have begun to unravel the changes in mitochondrial and redox homeostasis within skeletal muscle during CKD. Impairments in mitochondrial metabolism, characterized by reduced oxidative phosphorylation, are found in both rodents and patients with CKD. Associated with aberrant mitochondrial function, clinical and preclinical findings have documented signs of oxidative stress, although the molecular source and species are ill-defined. Critical Issues: First, we review the pathobiology of CKD and its associated myopathy, and we review muscle cell bioenergetics and redox biology. Second, we discuss evidence from clinical and preclinical studies that have implicated the involvement of mitochondrial and redox alterations in CKD-associated myopathy and review the underlying mechanisms reported. Third, we discuss gaps in knowledge related to mitochondrial and redox alterations on muscle health and function in CKD. Future Directions: Despite what has been learned, effective treatments to improve muscle health in CKD remain elusive. Further studies are needed to uncover the complex mitochondrial and redox alterations, including post-transcriptional protein alterations, in patients with CKD and how these changes interact with known or unknown catabolic pathways contributing to poor muscle health and function. Antioxid. Redox Signal. 38, 318-337.
Assuntos
Doenças Musculares , Insuficiência Renal Crônica , Humanos , Qualidade de Vida , Mitocôndrias/metabolismo , Doenças Musculares/etiologia , Doenças Musculares/metabolismo , Músculo Esquelético/metabolismo , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/metabolismo , OxirreduçãoRESUMO
INTRODUCTION/AIMS: Hypernatremia myopathy is a rare disease often unrecognized by clinicians. This study aimed to present a case series of hypernatremic myopathy with an emphasis on profiling its clinical characteristics and exploring its pathogenesis. METHODS: We reviewed seven patients with hypernatremic myopathy and reported their demographic data, etiology, clinical manifestations, and laboratory and electrophysiological characteristics. A muscle biopsy was performed on one patient. RESULTS: All patients had hypothalamic lesions as the cause of the hypernatremia including craniopharyngioma, germinoma, pituitary adenoma, Langerhans cell histiocytosis, and glioma. The clinical manifestations varied from mild weakness to complete paralysis. Myalgia and muscle cramps were also observed. Four of the patients had rhabdomyolysis on admission and developed acute kidney injury. All patients had markedly elevated serum creatine kinase (CK) and sodium levels. There was a significant positive correlation between serum sodium and CK levels. A high prevalence of hypopituitarism in different axes was observed in our study. Central hypogonadism (5 of 7), central hypothyroidism (3 of 7), and central diabetes insipidus (3 of 7) were the most common manifestations of hypothalamic dysfunction. Myopathic changes were observed on needle electromyography. The muscle biopsy of one patient showed diffuse necrotic fibers and scattered hypercontracted fibers with increased ragged red fibers. DISCUSSION: Hypernatremia myopathy should be considered in hypernatremic patients with muscle weakness and myalgia. Rhabdomyolysis frequently occurs and may lead to acute kidney injury in hypernatremia myopathy. Testing of hormone levels and performance of brain magnetic resonance imaging for possible hypothalamic lesions is strongly recommended.
Assuntos
Hipernatremia , Doenças Musculares , Rabdomiólise , Humanos , Hipernatremia/complicações , Mialgia , Doenças Musculares/etiologia , Rabdomiólise/complicações , SódioRESUMO
Tumor-induced osteomalacia (TIO) is a disorder in which the clinical signs and symptoms of osteomalacia and the biochemical abnormalities of hypophosphatemia, phosphaturia, and low serum levels of 1,25(OH)2 Vitamin D3 are secondary to a neoplasm. A 33-year-old woman presented with musculoskeletal pain and proximal myopathy with a duration of 2.5 years which was treated with Vitamin D supplements. On the basis of the biochemical tests and histopathology, she was reevaluated and found to have TIO secondary to a phosphaturic mesenchymal tumor. The tumor was resected (limb salvage with endoprosthesis), and she had no pain or weakness at followup. The case reminds the readers to consider the possibility of TIO when evaluating patients with isolated hypophosphatemia, which may lead to long-term disability and prolonged morbidity if untreated. Early recognition and diagnosis of TIO is crucial since resection of the tumor usually reverses its manifestations.
Assuntos
Hipofosfatemia , Doenças Musculares , Osteomalacia , Síndromes Paraneoplásicas , Humanos , Feminino , Adulto , Osteomalacia/etiologia , Síndromes Paraneoplásicas/etiologia , Síndromes Paraneoplásicas/diagnóstico , Hipofosfatemia/etiologia , Doenças Musculares/etiologia , Doenças Musculares/diagnóstico , Mesenquimoma/complicações , Mesenquimoma/cirurgia , Mesenquimoma/patologia , Mesenquimoma/diagnóstico , Resultado do Tratamento , Salvamento de Membro , Biópsia , Neoplasias de Tecido Conjuntivo/cirurgia , Neoplasias de Tecido Conjuntivo/etiologiaRESUMO
Endometriosis of the rectus abdominis muscle is an extremely rare form of extrapelvic localization of the disease. It is usually iatrogenic and develops after caesarean section or gynecological surgery. Preoperative diagnosis is very difficult and a challenge for gynecologists and surgeons; thus, the diagnosis is histological. The treatment of choice consists of wide local excision of the lesion on healthy margins. We cite a case of isolated endometriosis in the rectus abdominis muscles in a 46-year-old patient with a previous caesarean section, the diagnosis of which was made randomly when performing abdominal total hysterectomy for the treatment of chronic pelvic pain. Histological examination of the surgical specimen confirmed the diagnosis. Simultaneously, the surgical specimen of the uterus and ovaries was free of endometriosis. Postoperatively, the patient mentioned discharge of her symptoms. No further therapeutic intervention was deemed necessary, as it was considered that a complete resection of the endometrial tissue implantation from the muscles of abdominal wall was performed. The present case report lay emphasis on the significant difficulties involved in the preoperative diagnosis of endometriosis of the rectus abdominis muscle. Concurrently, it is pointed out that, despite its rarity, individual extrapelvic endometriosis located in the rectus abdominis muscle should be included among other pathological entities in the differential diagnosis of chronic pelvic pain in women of reproductive age, who gave birth by caesarean section or underwent gynecological surgery with abdominal or laparoscopic access.
Assuntos
Dor Crônica , Endometriose , Doenças Musculares , Humanos , Feminino , Gravidez , Pessoa de Meia-Idade , Reto do Abdome/cirurgia , Reto do Abdome/patologia , Endometriose/complicações , Endometriose/diagnóstico , Endometriose/cirurgia , Cesárea/efeitos adversos , Doenças Musculares/diagnóstico , Doenças Musculares/etiologia , Doenças Musculares/cirurgia , Dor Pélvica/etiologia , Dor Crônica/etiologiaRESUMO
BACKGROUND: Critical illness myopathy (CIM) is a consequence of modern critical care resulting in general muscle wasting and paralyses of all limb and trunk muscles, resulting in prolonged weaning from the ventilator, intensive care unit (ICU) treatment and rehabilitation. CIM is associated with severe morbidity/mortality and significant negative socioeconomic consequences, which has become increasingly evident during the current COVID-19 pandemic, but underlying mechanisms remain elusive. METHODS: Ten neuro-ICU patients exposed to long-term controlled mechanical ventilation were followed with repeated muscle biopsies, electrophysiology and plasma collection three times per week for up to 12 days. Single muscle fibre contractile recordings were conducted on the first and final biopsy, and a multiomics approach was taken to analyse gene and protein expression in muscle and plasma at all collection time points. RESULTS: (i) A progressive preferential myosin loss, the hallmark of CIM, was observed in all neuro-ICU patients during the observation period (myosin:actin ratio decreased from 2.0 in the first to 0.9 in the final biopsy, P < 0.001). The myosin loss was coupled to a general transcriptional downregulation of myofibrillar proteins (P < 0.05; absolute fold change >2) and activation of protein degradation pathways (false discovery rate [FDR] <0.1), resulting in significant muscle fibre atrophy and loss in force generation capacity, which declined >65% during the 12 day observation period (muscle fibre cross-sectional area [CSA] and maximum single muscle fibre force normalized to CSA [specific force] declined 30% [P < 0.007] and 50% [P < 0.0001], respectively). (ii) Membrane excitability was not affected as indicated by the maintained compound muscle action potential amplitude upon supramaximal stimulation of upper and lower extremity motor nerves. (iii) Analyses of plasma revealed early activation of inflammatory and proinflammatory pathways (FDR < 0.1), as well as a redistribution of zinc ions from plasma. CONCLUSIONS: The mechanical ventilation-induced lung injury with release of cytokines/chemokines and the complete mechanical silencing uniquely observed in immobilized ICU patients affecting skeletal muscle gene/protein expression are forwarded as the dominant factors triggering CIM.
Assuntos
Doenças Musculares , Lesão Pulmonar Induzida por Ventilação Mecânica , Humanos , Estado Terminal , Doenças Musculares/diagnóstico , Doenças Musculares/etiologia , Doenças Musculares/metabolismo , Miosinas/metabolismo , Estudos Prospectivos , Multiômica , Respiração Artificial/efeitos adversos , Lesão Pulmonar Induzida por Ventilação Mecânica/metabolismo , Lesão Pulmonar Induzida por Ventilação Mecânica/fisiopatologia , Quimiocinas , CitocinasRESUMO
Myopathies associated with systemic diseases results from several different disease processes. Myopathy as the initial presenting symptom in Crohn's disease is a rare presentation. We report a 20-yearr-old lady who presented with a painful proximal myopathy. On examination, she was malnourished with pallor, angular cheilitis, Bitots spots, and bilateral pitting pedal edema. Laboratory evaluation showed iron deficiency anemia, hypoalbuminemia, and very low vitamin D levels with elevated creatine phosphokinase levels. A possibility of osteomalacic metabolic myopathy due to vitamin D deficiency was considered. The malabsorption workup was negative. A colonoscopic biopsy showed noncaseating granulomatous inflammation suggestive of Crohn's disease. With supplementary therapy and specific treatment, she was asymptomatic at 6-months follow-up with no residual neurological deficits. A detailed history and an algorithmic approach will be very useful in making the differential diagnosis in any patient presenting with muscle weakness in myopathy associated with systemic illness.
Assuntos
Doença de Crohn , Erros Inatos do Metabolismo , Doenças Musculares , Deficiência de Vitamina D , Doença de Crohn/complicações , Doença de Crohn/diagnóstico , Diagnóstico Diferencial , Feminino , Granuloma/diagnóstico , Humanos , Erros Inatos do Metabolismo/diagnóstico , Doenças Musculares/complicações , Doenças Musculares/etiologiaRESUMO
BACKGROUND: The COVID-19 pandemic started to affect Turkey in March 2020. In this study, we retrospectively investigated spontaneous rectus sheath hematoma (S-RSH) in patients with COVID-19 presenting with acute abdominal pain during the ongoing pandemic. METHODS: The demographic characteristics, laboratory findings, length of hospital stay, and treatment processes of COVID-19 cases with S-RSH detected between March and December 2020 were recorded. The rectus sheath hematoma diagnosis of the patients was made using abdominal computed tomography, and the patients were followed up. Low-molecular-weight heparin treatment, which was initiated upon admission, was continued during the follow-up. RESULTS: S-RSH was detected in 13 out of 220 patients with COVID-19 who were referred to general surgery for consultation due to acute abdominal pain. The mean age of these patients was 78±13 years, and the female-to-male ratio was 1.6. Mechanical ven-tilation support was applied to three patients, all of whom were followed up in the intensive care unit. Two patients died for reasons independent of rectus sheath hematoma during their treatment. Among the laboratory findings, the activated partial thromboplastin time (aPTT) values did not deviate from the normal range. While there was no correlation between the international normalized ratio (INR) and aPTT (p>0.01), a significant correlation was found between INR and interleukin-6 (IL-6) (p<0.002). None of the patients required surgical or endovascular interventional radiology procedures. CONCLUSION: In the literature, the incidence of S-RSH in patients presenting with acute abdominal pain is 1.8%. However, in our series, this rate was approximately 3 times higher. Our patients' normal INR and aPTT values suggest that coagulopathy was mostly secondary to endothelial damage. In addition, the significantly higher IL-6 values (p<0.002) indicate the development of vasculitis along with the acute inflammatory process. S-RSH can be more commonly explained the high severity of vasculitis and endothelial damage due to viral infection.