BACKGROUND Nemaline myopathy(NM)is a rare type of congenital myopathy,with an incidence of 1:50000.Patients with NM often exhibit hypomyotonia and varying degrees of muscle weakness.Skeletal muscles are always affecte...BACKGROUND Nemaline myopathy(NM)is a rare type of congenital myopathy,with an incidence of 1:50000.Patients with NM often exhibit hypomyotonia and varying degrees of muscle weakness.Skeletal muscles are always affected by this disease,while myocardial involvement is uncommon.However,with improvements in genetic testing technology,it has been found that NM with a mutation in the myopalladin(MYPN)gene not only causes slow,progressive muscle weakness but also results in dilated or hypertrophic cardiomyopathy.CASE SUMMARY A 3-year-old pre-school boy was admitted to our hospital with cough,edema,tachypnea,and an increased heart rate.The patient was clinically diagnosed with severe dilated cardiomyopathy and heart failure,and subsequent gene examination confirmed the diagnosis of NM with a mutation in MYPN.Captopril,diuretics,low-dose digoxin,and dobutamine were administered.After 22 d of hospitalization,the patient was discharged due to the improvement of clinical symptoms.During the follow-up period,the patient died of refractory heart failure.CONCLUSION Decreased muscular tone and dilated cardiomyopathy are common features of MYPN-mutated NM.Heart transplantation may be a solution to this type of cardiomyopathy.展开更多
We presented a letter about a case of a 37-year-old Black female with a history of human immunodeficiency virus and an undetectable viral load.She was evaluated with weakness in the scapular(grade III)and pelvic girdl...We presented a letter about a case of a 37-year-old Black female with a history of human immunodeficiency virus and an undetectable viral load.She was evaluated with weakness in the scapular(grade III)and pelvic girdles(grade II),elevation of creatine phosphokinase levels and muscle biopsy compatible with nemaline myopathy.She was treated with rituximab showing improvement of the condition.展开更多
Objective: To assess general pain and fatigue and their association with the disease status of patients with systemic autoimmune myopathies (SAMs), in terms of the impact of the COVID-19 pandemic on these parameters. ...Objective: To assess general pain and fatigue and their association with the disease status of patients with systemic autoimmune myopathies (SAMs), in terms of the impact of the COVID-19 pandemic on these parameters. Methods: This is a cross-sectional and prospective cohort study that included 72 patients with SAMs who were matched by age and gender with 67 healthy individuals. The patients engaged in an interview via a validity survey to measure disease status, and assess a visual analog scale (VAS) for pain and fatigue in two periods: before (phase I) and during (phase II) of the Brazilian COVID-19 pandemic. For cross-sectional analysis, patients’ data from phase I were compared to healthy individuals’ information, whereas for prospective analysis, data of the patients who were assessed in phase II were compared to the same patients’ data from phase I. Results: The patients had significantly more pain perception, comparable fatigue perception and fatigue severity, when compared to the healthy individuals. During the COVID-19 pandemic period, the disease activity, pain and fatigue perceptions, and fatigue severity remained unchanged. Despite this, the pain and fatigue perceptions correlated significantly with patients’ VAS, the patient health outcome, and fatigue severity. In addition, the pain perception correlated to creatine phosphokinase, whereas fatigue perceptions correlated to physicians' VAS. Conclusions: The study showed that patients with SAMs have significantly increased pain perceptions compared to healthy individuals. During the COVID-19 pandemic period, the pain and fatigue perceptions remained unchanged in patients with SAMs but they correlated to several disease status parameters.展开更多
Background： Collagen Vl-related myopathies are autosomal dominant and recessive hereditary myopathies, mainly including Ullrich congenital muscular dystrophy （UCMD） and Bethlem myopathy （BM）. Muscle magnetic reso...Background： Collagen Vl-related myopathies are autosomal dominant and recessive hereditary myopathies, mainly including Ullrich congenital muscular dystrophy （UCMD） and Bethlem myopathy （BM）. Muscle magnetic resonance imaging （MRI） has been widely used to diagnosis muscular disorders. The purpose of this study was to evaluate the diagnostic value of thigh muscles MRI for collagen VI-related myopathies. Methods： Eleven patients with collagen VI gene mutation-related myopathies were enrolled in this study. MRI of the thigh muscles was performed in all patients with collagen VI gene mutation-related myopathies and in 361 patients with other neuromuscular disorders （disease controls）. Tl-weighted images were used to assess fatty infiltration of the muscles using a modified Mercuri＇s scale. We assessed the sensitivity and specificity of the MRI features of collagen Vl-related myopathies. The relationship between fatty infiltration of muscles and specific collagen VI gene mutations was also investigated. Results： Eleven patients with collagen VI gene mutation-related rnyopathies included six UCMD patients and five BM patients. There was no significant difference between UCMD and BM patients in the fatty infiltration of each thigh muscle except sartorius （P = 0.033）： theretbre, we combined the UCMD and BM data. Mean fatty infiltration scores were 3.1 and 3.0 in adductor magnus and gluteus maximus, while the scores were 1.3, 1.3, and 1.5 in gracilis, adductor longus, and sartorius, respectively. A “target” sign in rectus femoris （RF） was present in seven cases, and a “sandwich” sign in vastus lateralis （VL） was present in ten cases. The “target” and “sandwich” signs had sensitivities of 63.6% and 90.9% and specificities of 97.3% and 96,9% for the diagnosis of collagen Vl-related myopathies, respectively. Fatty infiltration scores were 2.0-3.0 in seven patients with mutations in the triple-helical domain, and 1.0-1.5 in three of four patients with mutations in the N- or C-domain of the collagen VI genes. Conclusions： The “target” sign in RF and “sandwich” sign in VL are common MRI features and are useful for the diagnosis of collagen VI-related myopathies. The severity of fatty infiltration of muscles may have a relationship with the mutation location of collagen VI gene.展开更多
基金the Sichuan Province Science and Technology Support Program of China。
文摘BACKGROUND Nemaline myopathy(NM)is a rare type of congenital myopathy,with an incidence of 1:50000.Patients with NM often exhibit hypomyotonia and varying degrees of muscle weakness.Skeletal muscles are always affected by this disease,while myocardial involvement is uncommon.However,with improvements in genetic testing technology,it has been found that NM with a mutation in the myopalladin(MYPN)gene not only causes slow,progressive muscle weakness but also results in dilated or hypertrophic cardiomyopathy.CASE SUMMARY A 3-year-old pre-school boy was admitted to our hospital with cough,edema,tachypnea,and an increased heart rate.The patient was clinically diagnosed with severe dilated cardiomyopathy and heart failure,and subsequent gene examination confirmed the diagnosis of NM with a mutation in MYPN.Captopril,diuretics,low-dose digoxin,and dobutamine were administered.After 22 d of hospitalization,the patient was discharged due to the improvement of clinical symptoms.During the follow-up period,the patient died of refractory heart failure.CONCLUSION Decreased muscular tone and dilated cardiomyopathy are common features of MYPN-mutated NM.Heart transplantation may be a solution to this type of cardiomyopathy.
文摘We presented a letter about a case of a 37-year-old Black female with a history of human immunodeficiency virus and an undetectable viral load.She was evaluated with weakness in the scapular(grade III)and pelvic girdles(grade II),elevation of creatine phosphokinase levels and muscle biopsy compatible with nemaline myopathy.She was treated with rituximab showing improvement of the condition.
文摘Objective: To assess general pain and fatigue and their association with the disease status of patients with systemic autoimmune myopathies (SAMs), in terms of the impact of the COVID-19 pandemic on these parameters. Methods: This is a cross-sectional and prospective cohort study that included 72 patients with SAMs who were matched by age and gender with 67 healthy individuals. The patients engaged in an interview via a validity survey to measure disease status, and assess a visual analog scale (VAS) for pain and fatigue in two periods: before (phase I) and during (phase II) of the Brazilian COVID-19 pandemic. For cross-sectional analysis, patients’ data from phase I were compared to healthy individuals’ information, whereas for prospective analysis, data of the patients who were assessed in phase II were compared to the same patients’ data from phase I. Results: The patients had significantly more pain perception, comparable fatigue perception and fatigue severity, when compared to the healthy individuals. During the COVID-19 pandemic period, the disease activity, pain and fatigue perceptions, and fatigue severity remained unchanged. Despite this, the pain and fatigue perceptions correlated significantly with patients’ VAS, the patient health outcome, and fatigue severity. In addition, the pain perception correlated to creatine phosphokinase, whereas fatigue perceptions correlated to physicians' VAS. Conclusions: The study showed that patients with SAMs have significantly increased pain perceptions compared to healthy individuals. During the COVID-19 pandemic period, the pain and fatigue perceptions remained unchanged in patients with SAMs but they correlated to several disease status parameters.
文摘Background： Collagen Vl-related myopathies are autosomal dominant and recessive hereditary myopathies, mainly including Ullrich congenital muscular dystrophy （UCMD） and Bethlem myopathy （BM）. Muscle magnetic resonance imaging （MRI） has been widely used to diagnosis muscular disorders. The purpose of this study was to evaluate the diagnostic value of thigh muscles MRI for collagen VI-related myopathies. Methods： Eleven patients with collagen VI gene mutation-related myopathies were enrolled in this study. MRI of the thigh muscles was performed in all patients with collagen VI gene mutation-related myopathies and in 361 patients with other neuromuscular disorders （disease controls）. Tl-weighted images were used to assess fatty infiltration of the muscles using a modified Mercuri＇s scale. We assessed the sensitivity and specificity of the MRI features of collagen Vl-related myopathies. The relationship between fatty infiltration of muscles and specific collagen VI gene mutations was also investigated. Results： Eleven patients with collagen VI gene mutation-related rnyopathies included six UCMD patients and five BM patients. There was no significant difference between UCMD and BM patients in the fatty infiltration of each thigh muscle except sartorius （P = 0.033）： theretbre, we combined the UCMD and BM data. Mean fatty infiltration scores were 3.1 and 3.0 in adductor magnus and gluteus maximus, while the scores were 1.3, 1.3, and 1.5 in gracilis, adductor longus, and sartorius, respectively. A “target” sign in rectus femoris （RF） was present in seven cases, and a “sandwich” sign in vastus lateralis （VL） was present in ten cases. The “target” and “sandwich” signs had sensitivities of 63.6% and 90.9% and specificities of 97.3% and 96,9% for the diagnosis of collagen Vl-related myopathies, respectively. Fatty infiltration scores were 2.0-3.0 in seven patients with mutations in the triple-helical domain, and 1.0-1.5 in three of four patients with mutations in the N- or C-domain of the collagen VI genes. Conclusions： The “target” sign in RF and “sandwich” sign in VL are common MRI features and are useful for the diagnosis of collagen VI-related myopathies. The severity of fatty infiltration of muscles may have a relationship with the mutation location of collagen VI gene.
