Very-long chain acyl-coA dehydrogenase deficiency: report of a Chinese pedigree and a literature review / 中华医学遗传学杂志

OBJECTIVE@#To explore the correlation between clinical classification and genotype and prognosis among Chinese children with Very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).@*METHODS@#A Chinese pedigree affected with VLCADD admitted at the First People's Hospital of Yunnan Province in February 2019 was selected as the study subject. The characteristics of disease onset, diagnosis and treatment and prognosis were retrospectively analyzed. Relevant literature was also systematically searched and reviewed.@*RESULTS@#The proband, a 1-year-old boy, had the clinical manifestations of frequently vomiting, hypoglycemia, abnormal liver function and myocardial enzymes. Tandem mass spectrometry screening showed significantly elevated C14, C14:1, C16:1, C16:2, C18 and C14/C8. Genetic testing revealed that he has harbored compound heterozygous variants of the ACADVL gene, namely c.664G>A (p.G222R) and c.1345G>A (p.E449K), which were respectively derived from his father and mother. The child was diagnosed with VLCADD cardiomyopathy type and deceased 2 weeks later. Literature review has identified 60 Chinese children with VLCADD. The clinical classifications were mainly cardiomyopathy type and liver disease type, which accounted for 73.3% (43/60). The combination of ACADVL gene variants were correlated with the clinical classifications of VLCAD. Children with one or two loss-of-function (LOF) mutations showed more severe clinical manifestation and a higher mortality. Cardiomyopathy type had the poorest prognosis, with a mortality rate of 76.9% (20/26). C14:1 may be used as an indicator for the diagnosis of VLCADD, but cannot be used for clinical subtyping and prognosis evaluation. The c.1349G>A (p.R450H) variant had the highest frequency among the Chinese patients, accounting for 10.8% (13/120).@*CONCLUSION@#The clinical classifications of VLCADD are strongly correlated with the prognosis, and LOF mutations are more common in those with severe clinical manifestations. c.1349G>A (p.R450H) may be the most common variant among the Chinese patients, and early screening and diagnosis can greatly improve the prognosis of patients.

Intramuscular Hemangioma: A Rare Cause of Omalgia / Hemangioma intramuscular: Uma causa rara de Omalgia

Abstract Intramuscular hemangiomas (IHs) are benign soft-tissue tumors that represent less than 1% of all hemangiomas. This clinical entity is rarely considered as a differential diagnosis in cases of musculoskeletal pain. A healthy 38-year-old woman presented to our office with complaint of left omalgia, with 8 months of evolution, limiting her daily activities. She reported the appearance of tumefaction in the previous 4 months. She was medicated with analgesic and antiinflammatory drugs with no clinical improvement. The objective examination showed limitation of left shoulder abduction (0-90°). The patient underwent a magnetic resonance imaging (MRI), in which a well-circumscribed nodular formation was detected in the deltoid muscle. Then, she underwent a biopsy, which confirmed the diagnosis of hemangioma. The patient was referred for sclerotherapy. Intramuscular hemangiomas are usually observed in young patients. The gold-standard examination for diagnosis is MRI, which often forestalls the need for a biopsy. In many cases, IHs are asymptomatic and tend to involute over time. Despite the low frequency of this clinical entity, it is important to place it as a diagnostic hypothesis in cases of chronic pain of the limbs in young patients with poor therapeutic response to antiinflammatory drugs and analgesia.

Resumo Os hemangiomas intramusculares (HIs) são tumores benignos de tecidos moles que representam menos de 1% de todos os hemangiomas. Esta entidade clínica raramente é considerada como diagnóstico diferencial nos casos de dor musculoesquelética. Uma paciente do sexo feminino, de 38 anos de idade, saudável, se apresentou ao nosso consultório com queixa de omalgia esquerda, com 8 meses de evolução, que limitava suas atividades diárias. Ela relatou o aparecimento de tumefação 4 meses antes da consulta. A paciente estava medicada com analgésico e antiinflamatório sem melhoria clínica. Ao exame objetivo, ela apresentava limitação da abdução do ombro esquerdo (0-90°). A paciente foi submetida a uma ressonância nuclear magnética (RNM) na qual foi detectada uma formação nodular bem circunscrita no músculo deltoide,. Em seguida, foi realizada uma biópsia que confirmou o diagnóstico de hemangioma. A paciente foi então encaminhada para a realização de escleroterapia. Os HIs normalmente são observados em pacientes jovens. O exame padrão-ouro para o diagnóstico é a RNM, que muitas vezes torna a realização de biópsia desnecessária. Em muitos casos, os HIs são assintomáticos e tendem a involuir com o tempo. Apesar da baixa frequência desta entidade clínica, é importante colocá-la como hipótese de diagnóstico em casos de dor crônica dos membros em pacientes jovens com má resposta terapêutica a antiinflamatórios e analgesia.

Characterization of patients with dermatomyositis in a university hospital in Colombia

Introduction: Dermatomyositis is an idiopathic inflammatory myopathy characterized by the presence of skin lesions; it is considered a heterogeneous disease, due to its clinical presentation, course, and prognosis. In Colombia there are few records that describe the clinical characteristics of these patients. Methods: Cross-sectional study. Medical records of patients who consulted a university hospital in Colombia between January 2004 and December 2019 were reviewed. The records were obtained using databases from the dermatology, rheumatology, dermatopathology, and electrophysiology units, and CIE10 diagnostic codes. Results: Seventy patients with a dermatomyositis diagnosis were found, 63 (90%) fulfilled the Bohan and Peter diagnostic criteria and 7 (10%) had amyopathic dermatomyositis, with an average age of 43 years (SD ± 15.3). Forty-eight were women (68.5%). The most frequent clinical signs were Gottron's papules 80%, periorbital violaceous (heliotrope) erythema with edema 78.5% (n = 55) and poikiloderma 75.7% (n = 53). The most frequently found systemic manifestations were dysphagia (21.4%, n = 15), interstitial lung disease (11.4%, n = 8), and pulmonary hypertension (8.5%, n = 6). Cancer was documented in 8.5% (n = 6) of patients. Conclusion: We showed clinical information of patients with dermatomyositis in a referral hospital in Colombia. The data obtained is consistent with information from other case series worldwide.

Introducción: La dermatomiositis es una miopatía inflamatoria idiopática que se caracteriza por presentar lesiones en la piel; por su presentación clínica, su curso y su pronóstico, se la considera una enfermedad heterogénea. En Colombia existen pocos registros que describan las características clínicas de los pacientes afectados por esta enfermedad. Métodos: Estudio descriptivo de corte transversal, se revisaron las historias clínicas de pacientes que consultaron a un hospital universitario en Colombia entre enero del 2004 y diciembre del 2019. Los registros se obtuvieron utilizando bases de datos de las unidades de dermatología, reumatología, dermatopatología, electrofisiología y códigos diagnósticos CIE10 asociados con dermatomiositis. Resultados: Se obtuvieron 70 pacientes con diagnóstico de dermatomiositis, 63 (90%) de los cuales cumplían criterios de clasificación de Bohan y Peter, en tanto que 7 (10%) presentaban dermatomiositis amiopática. El promedio de edad fue de 43 arios (DS ± 15,3); 48 fueron mujeres (68,5%); los signos clínicos más frecuentes fueron: pápulas de Gottron (80%, n = 56), eritema heliotropo (78,5%, n = 55) y poiquilodermia (75,7%, n = 53). Las manifestaciones sistêmicas más comúnmente encontradas fueron: disfagia (21,4%, n = 15), enfermedad pulmonar intersticial (11,4%, n = 8) e hipertensión pulmonar (8,5%, n = 6). Se documentó cáncer en el 8,5% (n = 6) de los pacientes. Conclusión: Se presenta información clínica de pacientes con dermatomiositis en un centro hospitalario de referencia en Colombia; los datos obtenidos concuerdan con la información de otros estudios de series de casos a escala mundial.

A family with early onset myopathy caused by MEGF10 gene defect and literature review / 中华儿科杂志

Objective: To summarize the genetic and clinical phenotypic characteristics of patients with early-onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) caused by multiple epidermal growth factor 10 (MEGF10) gene defect. Methods: The clinical data of 3 infants in 1 family with EMARDD caused by MEGF10 gene defect diagnosed in the Department of Neonatology, Xiamen Children's Hospital in April 2022 were analyzed retrospectively. Using "multiple epidermal growth factor 10" "myopathy" or "MEGF10" "myopathy" as the key words, and searching the relevant literature reports of CNKI, Wanfang Database and PubMed Database from the establishment of the database to September 2022. Combined with this family, the main clinical information and genotype characteristics of EMARDD patients caused by MEGF10 gene defect were summarized. Results: The proband, male, first infant of monozygotic twins, was admitted to hospital 7 days after birth "due to intermittent cyanosis with weak sucking". The infant had dysphagia accompanied with cyanosis of lips during feeding and crying after birth. Physical examination on admission revealed reduced muscle tone of the extremities, flexion of the second to fifth fingers of both hands with limited passive extension of proximal interphalangeal joints, and limited abduction of both hips. He was diagnosed as dysphagia of newborn, congenital dactyly. After admission, he was given limb and oral rehabilitation training, breathing gradually became stable and oral feeding fully allowed, and discharged along with improvement. The younger brother of the proband was admitted to the hospital at the same time, and his clinical manifestations, diagnosis and treatment process were the same as those of the proband. The elder brother of the proband died at the age of 8 months due to the delayed growth and development, severe malnutrition, hypotonia, single palmoclal crease and weak crying. A whole exon sequencing of the family was done, and found that the 3 children were all compound heterozygous variations at the same site of MEGF10 gene, with 2 splicing variants (c.218+1G>A, c.2362+1G>A), which came from the father and mother respectively, and the new variation was consistent with the autosomal recessive inheritance model. Three children were finally diagnosed as EMARDD caused by MEGF10 gene defect. There are 0 Chinese literature and 18 English literature that met the search conditions. Totally 17 families including 28 patients were reported. There were 31 EMARDD patients including 3 infants from this family. Among them, there were 13 males and 18 females. The reported age of onset ranged from 0 to 61 years. Except for 5 patients with incomplete clinical data, 26 patients were included in the analysis of phenotypic and genotypic characteristics. The clinical features were mainly dyspnea (25 cases), scoliosis (22 cases), feeding difficulties (21 cases), myasthenia (20 cases), and other features including areflexia (16 cases) and cleft palate or high palatal arch(15 cases). Muscle biopsy showed non-specific changes, with histological characteristics ranging from slight muscle fiber size variation to minicores change which was seen in all 5 patients with at least 1 missense mutation of allele. In addition, the adult onset was found in patients with at least 1 missense variant of MEGF10 gene. Conclusions: MEGF10 gene defect related EMARDD can occur in the neonatal period, and the main clinical features are muscle weakness, breathing and feeding difficulties. Patients with myopathy who have at least 1 missense mutation and muscle biopsy indicating minicores change may be relatively mild.

Analysis of blood carnitine profile and SLC22A5 gene variants in 17 neonates with Primary carnitine deficiency / 中华医学遗传学杂志

OBJECTIVE@#To analyze the blood free carnitine (C0) level and SLC22A5 gene variants in 17 neonates with Primary carnitine deficiency (PCD) and to determine its incidence in local area and explore the correlation between C0 level and genotype.@*METHODS@#148 043 newborns born in 9 counties (cities and districts) of Ningde city from September 2016 to June 2021 were selected as study subjects. Blood free carnitine and acyl carnitine of 148 043 neonates were analyzed. Variants of the SLC22A5 gene were screened in those with blood C0 < 10 µmol/L, or C0 between 10 ∼ 15 µmol/L. Correlation between the free carnitine level and genetic variants was analyzed.@*RESULTS@#In total 17 neonates were diagnosed with PCD, which yielded a prevalence of 1/8 707 in the region. Twelve variants of the SLC22A5 gene were identified, with the common ones including c.760C>T, c.1400C>G and c.51C>G. Compared with those carrying other variants of the gene, children carrying the c.760C>T variant had significantly lower C0 values (P < 0.01).@*CONCLUSION@#The prevalence of PCD is relatively high in Ningde area, and intervention measures should be taken to prevent and control the disease. The c. 760C>T variant is associated with lower level of C0, which can provide a clue for the diagnosis.

Anti-HMGCR immune-mediated necrotizing myopathy: A case report / 北京大学学报(医学版)

The patient was a 55-year-old man who was admitted to hospital with "progressive myalgia and weakness for 4 months, and exacerbated for 1 month". Four months ago, he presented with persistent shoulder girdle myalgia and elevated creatine kinase (CK) at routine physical examination, which fluctuated from 1 271 to 2 963 U/L after discontinuation of statin treatment. Progressive myalgia and weakness worsened seriously to breath-holding and profuse sweating 1 month ago. The patient was post-operative for renal cancer, had previous diabetes mellitus and coronary artery disease medical history, had a stent implanted by percutaneous coronary intervention and was on long-term medication with aspirin, atorvastatin and metoprolol. Neurological examination showed pressure pain in the scapularis and pelvic girdle muscles, and V- grade muscle strength in the proximal extremities. Strongly positive of anti-HMGCR antibody was detected. Muscle magnetic resonance imaging (MRI) T2-weighted image and short time inversion recovery sequences (STIR) showed high signals in the right vastus lateralis and semimembranosus muscles. There was a small amount of myofibrillar degeneration and necrosis, CD4 positive inflammatory cells around the vessels and among myofibrils, MHC-Ⅰ infiltration, and multifocal lamellar deposition of C5b9 in non-necrotic myofibrils of the right quadriceps muscle pathological manifestation. According to the clinical manifestation, imageological change, increased CK, blood specific anti-HMGCR antibody and biopsy pathological immune-mediated evidence, the diagnosis of anti-HMGCR immune-mediated necrotizing myopathy was unequivocal. Methylprednisolone was administrated as 48 mg daily orally, and was reduced to medication discontinuation gradually. The patient's complaint of myalgia and breathlessness completely disappeared after 2 weeks, the weakness relief with no residual clinical symptoms 2 months later. Follow-up to date, there was no myalgia or weakness with slightly increasing CK rechecked. The case was a classical anti-HMGCR-IMNM without swallowing difficulties, joint symptoms, rash, lung symptoms, gastrointestinal symptoms, heart failure and Raynaud's phenomenon. The other clinical characters of the disease included CK as mean levels >10 times of upper limit of normal, active myogenic damage in electromyography, predominant edema and steatosis of gluteus and external rotator groups in T2WI and/or STIR at advanced disease phase except axial muscles. The symptoms may occasionally improve with discontinuation of statins, but glucocorticoids are usually required, and other treatments include a variety of immunosuppressive therapies such as methotrexate, rituximab and intravenous gammaglobulin.

Application of "eliminating stagnation and bloodletting/fire needling" in treatment of jingjin diseases / 中国针灸

Based on the development of conditions, the etiology and pathogenesis of jingjin (muscle region of meridian) diseases are summarized as 3 stages, i.e. stagnation due to over-exertion at early stage, manifested by tendon-muscle contracture and tenderness; cold condition due to stagnation, interaction of stasis and cold, resulting in clustered nodules at the middle stage; prolonged illness and missed/delayed treatment, leading to tendon-muscle contracture and impairment of joint function at the late stage. It is proposed that the treatment of jingjin diseases should be combined with the characteristic advantages of fire needling and bloodletting technique, on the base of "eliminating stagnation and bloodletting/fire needling". This combined therapy warming yang to resolve stasis and dispels cold to remove nodules, in which, eliminating the stagnation is conductive to the tissue regeneration, and the staging treatment is delivered in terms of the condition development at different phases.

Non-muscle myosin heavy chain 9 gene-related disorders with thrombocytopenia: report of two pedigrees and literature review / 中华儿科杂志

Objective: To summarize the clinical characteristics and gene variants of 2 pedigrees of non-muscle myosin heavy chain 9 related diseases (MYH9-RD) in children. Methods: The basic information, clinical features, gene variants and laboratory tests of MYH9-RD patients from 2 pedigrees confirmed in the First Affiliated Hospital of Zhengzhou University in November 2021 and July 2022 were analyzed retrospectively. "Non-muscle myosin heavy chain 9 related disease" "MYH9" and "children" were used as key words to search at Pubmed database, CNKI and Wanfang database up to February 2023. The MYH9-RD gene variant spectrum and clinical data were analyzed and summarized. Results: Proband 1 (male, 11 years old) sought medical attention due to epistaxis, the eldest sister and second sister of proband 1 only showed excessive menstrual bleeding, the skin and mucous membrane of the their mother were prone to ecchymosis after bumping, the uncle of proband 1 had kidney damage, and the maternal grandmother and maternal great-grandmother of proband 1 had a history of cataracts. There were 7 cases of phenotypic abnormalities in this pedigree. High-throughput sequencing showed that the proband 1 MYH9 gene had c.279C>G (p.N93K) missense variant, and family verification analysis showed that the variant was inherited from the mother. A total of 4 patients including proband 1 and family members were diagnosed with MYH9-RD. The proband 2 (female, 1 year old) sought medical attention duo to fever and cough, and the father's physical examination revealed thrombocytopenia. There were 2 cases of phenotypic abnormalities in this pedigree. High-throughput sequencing showed that there was a c.4270G>A (p.D1424N) missense variant in the proband 2 MYH9 gene, and family verification analysis showed that the variant was inherited from the father. A total of 2 patients including proband 2 and his father were diagnosed with MYH9-RD. A total of 99 articles were retrieved, including 32 domestic literatures and 67 foreign literatures. The MYH9-RD cases totaled 149 pedigrees and 197 sporadic patients, including 2 pedigrees in our study. There were 101 cases with complete clinical data, including 62 sporadic cases and 39 pedigrees. There were 56 males and 45 females, with an average age of 6.9 years old. The main clinical manifestations were thrombocytopenia, skin ecchymosis, and epistaxis. Most patients didn't receive special treatment after diagnosis. Six English literatures related to MYH9-RD caused by c.279C>G mutation in MYH9 gene were retrieved. Italy reported the highest number of cases (3 cases). Twelve literatures related to MYH9-RD caused by c.4270G>A mutation in MYH9 gene were retrieved. China reported the highest number of cases (9 cases). Conclusions: The clinical manifestations of patients in the MYH9-RD pedigrees varied greatly. MYH9 gene c.279C>G and c.4270G>A mutations are the cause of MYH9-RD.

Muscle injury and sports rehabilitation management in endurance training oriented to winter sports / Lesão muscular e gerenciamento da reabilitação esportiva no treinamento de resistência direcionado aos esportes de inverno / Gestión de las lesiones musculares y de la rehabilitación deportiva en el entrenamiento de resistencia dirigido a los deportes de invierno

ABSTRACT Introduction: Muscle injury in ski sports training has gradually increased, greatly impairing performance in ice and snow sports competitions. Objective: To study muscle injury and muscle movement during ice and snow sports training and the rehabilitation of muscle injuries. Methods: Thirty skiers with knee muscle injuries were selected as subjects and underwent rehabilitation training for six weeks, and the indicators were statistically evaluated. Results: The ski injuries were mainly muscle strain, muscle or ligament strain, and ligament rupture. The indices after treatment were significantly different from those before treatment (P < 0.05); compared with the three rehabilitation programs, the improvement of each index in group C was significantly different from that in the other two groups (P < 0.05), while there was no significant difference in the improvement of each index between the multi-angle isometric training treatment in group A and the proprioceptive neuromuscular stimulation technique in group B (P>0.05). Conclusion: The influence of recovery training technology on knee muscle re-education was proposed, and a rehabilitation plan for skiing was presented. Level of evidence II; Therapeutic studies - investigation of treatment outcomes.

RESUMO Introdução: O quadro de lesão muscular no treinamento esportivo de esqui tem aumentado gradualmente, prejudicando muito o desempenho das competições esportivas de gelo e neve. Objetivo: Estudar a lesão muscular e o movimento muscular durante o treinamento esportivo no gelo e na neve, bem como a reabilitação das lesões musculares. Métodos: Trinta esquiadores com lesão muscular no joelho foram selecionados como sujeitos e submetidos a treinamento de reabilitação por um total de 6 semanas, tendo os indicadores sido avaliados estatisticamente. Resultados: Os tipos de lesões no esqui foram principalmente tensão muscular, tensão muscular ou ligamentar e ruptura ligamentar. Os índices após o tratamento foram significativamente diferentes daqueles antes do tratamento (P < 0,05); comparado com os três programas de reabilitação, a melhora de cada índice no grupo C foi significativamente diferente da dos outros dois grupos (P < 0,05), enquanto não houve diferença significativa na melhora de cada índice entre o tratamento de treinamento isométrico multiangular no grupo A e a técnica de estimulação neuromuscular proprioceptiva no grupo B (P>0,05). Conclusão: A influência da tecnologia de treinamento de recuperação na reeducação muscular do joelho foi proposta, e foi apresentado um plano de reabilitação para a prática de esqui. Nível de evidência II; Estudos terapêuticos - investigação dos resultados do tratamento.

RESUMEN Introducción: El cuadro de lesiones musculares en el entrenamiento de los deportes de esquí ha ido aumentando progresivamente, lo que perjudica en gran medida el rendimiento en las competiciones de deportes de hielo y nieve. Objetivo: Estudiar las lesiones musculares y el movimiento muscular durante el entrenamiento de los deportes de hielo y nieve, así como la rehabilitación de las lesiones musculares. Métodos: Se seleccionaron como sujetos treinta esquiadores con lesiones musculares en la rodilla y se sometieron a un entrenamiento de rehabilitación durante un total de 6 semanas, y se evaluaron estadísticamente los indicadores. Resultados: Los tipos de lesiones de esquí fueron principalmente la distensión muscular, la distensión muscular o de ligamentos y la rotura de ligamentos. Los índices después del tratamiento fueron significativamente diferentes de los anteriores (P < 0,05); en comparación con los tres programas de rehabilitación, la mejora de cada índice en el grupo C fue significativamente diferente de la de los otros dos grupos (P < 0,05), mientras que no hubo diferencias significativas en la mejora de cada índice entre el tratamiento de entrenamiento isométrico multiángulo en el grupo A y la técnica de estimulación neuromuscular propioceptiva en el grupo B (P>0,05). Conclusión: Se propuso la influencia de la tecnología de entrenamiento de recuperación en la reeducación muscular de la rodilla y se presentó un plan de rehabilitación para el esquí. Nivel de evidencia II; Estudios terapéuticos - investigación de los resultados del tratamiento.

Musculoskeletal disorders in university professors who telework due to COVID-19 pandemic / Trastornos musculoesqueléticos en docentes universitarios que realizan teletrabajo en el marco de la pandemia con COVID-19

Introduction: Teaching virtually can cause symptoms related to muscle pain due to bad postures when working with computers. Objective: To determine the presence of musculoskeletal disorders in university professors who telework during the COVID-19 pandemic. Materials and methods: Analytical cross-sectional study in professors from health programs at a northeastern Colombian university. The validated Spanish version of the Nordic Kuorinka questionnaire was used (Cronbach's alpha 0.8-0.9). Using non-probabilistic sampling and an instrument applied virtually, 68 professors were included in the study. The dependent variable was presence of musculoskeletal disorder, whereas the independent ones were the sociodemographic conditions related to telework. The Fisher or were used for qualitative variables. Comparison of means were carried out through Student's t test. p<0.05 values were interpreted as statistical association. Results: 67.7% of participants reported musculoskeletal disorder in at least one anatomical site, being the neck the one mostly affected. Female gender and seniority in teaching practice showed an association with the disorder (p<0.05). Conclusion: Working conditions triggered by teleworking during the pandemic are associated with the presence of musculoskeletal disorders in professors.

Introducción: El ejercicio de la docencia en modalidad virtual puede desencadenar síntomas relacionados con dolor muscular debido a las malas posturas frente al computador. Objetivo: Determinar la presencia de trastornos musculoesqueléticos en docentes universitarios que realizan teletrabajo durante la pandemia por COVID-19. Materiales y métodos: Estudio analítico de corte transversal en docentes de programas de salud de una universidad del nororiente colombiano. Se usó el cuestionario Nórdico Kuorinka, validado y adaptado al español Aalfa de Cronbach 0,8-0,9], a partir de muestreo no probabilístico se incluyeron 68 docentes mediante instrumento aplicado en formato virtual. La variable dependiente fue la presencia del trastorno musculoesquelético y variables independientes las sociodemográficas y relacionadas con teletrabajo. Se usó el Test de Fisher en variables cualitativas. La comparación de medias se hizo con prueba t de Student. Se interpretó como asociación estadística valores de p<0,05. Resultados: El 67,6% manifestó trastorno musculoesquelético en al menos un sitio anatómico; el cuello fue el área más afectada. El sexo femenino y la antigüedad en el ejercicio de la docencia mostraron asociación con el trastorno (p<0,05). Conclusión: Las condiciones laborales generadas por el teletrabajo durante la pandemia se asocian con la presencia de trastornos musculoesqueléticos en docentes.

Fibromialgia en la nueva era de la infección por SARS-CoV-2 y el síndrome post-COVID-19: una revisión exploratoria / no

Introducción: La fibromialgia es un síndrome caracterizado por dolor crónico generalizado, rigidez articular, trastornos del sueno, fatiga, ansiedad y episodios depresivos, cuyas manifestaciones clínicas comienzan después de un trauma físico o emocional. Pese a ello, son escasas las publicaciones que describen el impacto clínico de la COVID-19 en los síntomas de fibromialgia. Objetivo: Mapear la evidencia médica disponible sobre el impacto de la COVID-19 y el síndrome post-COVID en pacientes con y sin diagnóstico de fibromialgia previo a la infección. Materiales y métodos: Revisión sistemática exploratoria en PubMed y Scopus, considerando artículos en inglés y en español, con datos sobre la fibromialgia en población sobreviviente a la infección por SARS-CoV-2. Se revisaron los registros de ensayos clínicos de las bases de datos de la Organización Mundial de la Salud. Resultados: Se incluyeron 12 artículos publicados: estudios retrospectivos (n = 4), transversales (n = 2), casos y controles (n = 2), estudios cualitativos (n = 2), cohorte prospectiva (n = 1) y corte longitudinal (n = 1). La población total fue de 3.060 pacientes. Además, se incluyeron registros de un ensayo clínico controlado aleatorizado, un estudio observacional tipo transversal y uno de casos y controles. La suma total de la población estudiada fue de 173 participantes. Conclusión: Los pacientes sobrevivientes a la COVID-19 con o sin diagnóstico previo de fibromialgia pueden presentar un aumento del dolor crónico, insomnio, rigidez articular y deterioro en la calidad de vida. La población con antecedente de fibromialgia puede verse más afectada por estrés psicológico, lesión tisular a estructuras neuromusculares e inflamación por la infección por SARS-CoV-2.

Introduction: Fibromyalgia is a syndrome characterized by chronic generalized pain, joint stiffness, sleep disorders, fatigue, anxiety and depressive episodes, whose clinical manifestations begin after a physical or emotional trauma. However, few publications describe the clinical impact of COVID-19 on fibromyalgia symptoms. Objective: To map the available medical evidence on the impact of COVID-19 and PCS in patients with and without a diagnosis of fibromyalgia prior to infection. Materials and methods: Exploratory systematic review in PubMed and Scopus, considering COVID-19 Fibromyalgia SARS-CoV-2 articles in English and Spanish, with data on fibromyalgia in the population surviving SARS-CoV-2 infection. The clinical trial records of the World Health Organization databases were reviewed. Results: Twelve published articles were included: retrospective studies (n = 4), cross-sectional (n = 2), cases and controls (n = 2), qualitative studies (n = 2), a prospective cohort (n = 1) and a longitudinal section study (n = 1). The total study population of the included publications was 3,060 patients. In addition, one randomized controlled clinical trial and two observational cross-sectional and case-control studies were included. The total sum of the study population was 173 participants. Conclusion: Survivors of COVID-19 with or without a previous diagnosis of fibromyalgia may present an increase in chronic pain, insomnia, joint stiffness, and deterioration in quality of life. The population with a history of fibromyalgia may be more affected by psychological stress, tissue damage to neuromuscular structures, and inflammation due to SARS-CoV-2 infection.

Treatment of Muscle Injury with Stem Cells - Experimental Study in Rabbits / Tratamento da lesão muscular com células-tronco - Estudo experimental em coelhos

Abstract Objective Histological and macroscopic evaluation of the healing process of acute lesions of the femoral rectus muscle using stem cells derived from adipose tissue-derived stem cells (ADSCs). Method An experimental study was conducted with 18 hind legs of New Zealand rabbits, which were divided into three study groups according to the intervention to be performed. In group I, no surgical procedure was performed; in group II—SHAN, the experimental lesion was performed without any additional intervention protocol; in group III—Intervention, the addition of ADSCs was performed in the same topography of the experimental lesion. After the proposed period, 2 weeks, the material was collected and submitted to macroscopic and histological evaluation. Results The quantitative analysis showed that the addition of ADSCs is related to the reduction of inflammatory cells in the 2-week evaluation (164.2 cells in group II - SHAN to 89.62 cells in group III - ADSC). The qualitative analysis of the slides with Picrosirius red, noticed an increase in orange/yellow fibers in group III - ADSC, which evidences a final healing process. The macroscopic evaluation found no difference between the groups. Conclusion The use of ADSCs in the treatment of acute muscle injury presented histological advantages when compared to their non-use.

Resumo Objetivo Avaliação histológica e macroscópica do processo de cicatrização das lesões agudas do músculo reto femoral, com utilização de células-tronco derivadas de tecido adiposo (ADSCs, na sigla em inglês). Método Foi realizado um estudo experimental com 18 patas traseiras de coelhos Nova Zelândia, que foram divididos em três nos grupos de estudo de acordo com a intervenção a ser realizada. No grupo I não foi realizado procedimento cirúrgico; no grupo II - SHAN foi realizado a lesão experimental sem nenhum protocolo de intervenção adicional; e no grupo III - Intervenção foi realizado a adição de ADSCs na mesma topografia onde foi realizada a lesão experimental. Após o período proposto, 2 semanas, o material foi coletado, submetido a avaliação macroscópica e histológica. Resultados A análise quantitativa demonstrou que a adição de ADSCs está relacionada com a diminuição de células inflamatórias na avaliação com 2 semanas (164,2 células no grupo II - SHAN para 89,62 células no grupo III - ADSC). A análise qualitativa das lâminas coradas com Picrosírius red demonstrou um aumento das fibras de cor laranja/amarela no grupo III - ADSC, o que evidencia um processo final de cicatrização. A avaliação macroscópica não encontrou diferença entre os grupos. Conclusão A utilização de ADSCs no tratamento de lesão muscular aguda apresentou vantagens histológicas quando comparada a sua não utilização.

Comorbidity of sleep apnoea syndrome in patients with fibromyalgia in a sleep clinic

Introduction: Fibromyalgia syndrome (FMS) is characterized by chronic musculoskeletal pain, fatigue, and the sense of waking unrefreshed. Obstructive sleep apnoea syndrome (OSAS) and FMS have symptoms in common and the association of OSAS in these patients could confuse the diagnosis and worsen the severity and prognosis of FMS. The objective of this study was to establish the presence of OSAS in patients with FMS and sleep complaints in a sleep clinic. Methods: A cross-sectional study was conducted in patients aged 18 and above with FMS who were referred by rheumatology to a sleep clinic to confirm OSAS with polysomnography from 2015 to 2018. Descriptive statistics tools were applied. Results: Polysomnographic investigations were performed in 51 patients with FMS. OSAS was detected in 82% of patients. The mean age was 65 years. Of the patients studied, 82% were women and 78% of them had OSAS. All the male patients with FM had OSAS. Of the patients, 27.5% were normal weight and 45% were overweight. Of the patients, 23% had severe OSAS, 31% moderate and 45% mild. Conclusion: We found a high frequency of OSAS in this group of FMS patients. Since the 2 diseases share symptoms, it is interesting to delve deeper into the investigation of common pathophysiological mechanisms. The coexistence of the 2 pathologies poses diagnostic and therapeutic challenges that implies the need for further study at local level.

Introducción: La fibromialgia (FM) se caracteriza por dolor crónico, cansancio y sueno no reparador. El síndrome de apnea hipopnea obstructiva del sueño (SAHOS) tiene síntomas en común con la FM y su presencia puede confundir el diagnóstico y empeorar la gravedad y el pronóstico de la FM. El objetivo de este estudio fue establecer la presencia de SAHOS en pacientes con FM y alteraciones del sueño en una clínica de sueño. Métodos: Estudio observacional, de corte transversal, en pacientes mayores de 18 arios con FM remitidos por Reumatología a una clínica de sueño para confirmar SAHOS por medio de polisomnografía, entre el 2015 y el 2018. Se aplicaron herramientas de estadística descriptiva. Resultados: Se realizó polisomnografía completa a 51 pacientes con FM y se confirmó SAHOS en el 82%. La edad media fue de 65 años. El 82% de los pacientes estudiados fueron mujeres y, de estas, el 78% tuvo SAHOS. Al 100% de los hombres con FM se les diagnosticó SAHOS. El 27,5% tuvo un peso normal y el 45% sobrepeso. El 23% de los pacientes tuvo SAHOS grave, el 31% moderado y el 45% leve. Conclusiones: Encontramos una alta frecuencia de SAHOS en este grupo de pacientes con FM. Las 2 enfermedades comparten síntomas, por lo que es interesante profundizar más en la investigación de mecanismos fisiopatológicos comunes. La coexistencia de las 2 patologías plantea retos diagnósticos y terapéuticos que vislumbran la necesidad de estudios más profundos a escala local.

Atipicidad en el hipotiroidismo congénito: síndrome de Kocher-Debré-Semelaigne. Reporte de caso / Atypicality in congenital hypothyroidism: Kocher-Debré-Semelaigne. Case report

El síndrome de Kocher Debré Semelaigne (SKDS) se describe dentro de las formas clínicas atípicas asociadas al hipotiroidismo congénito (HC) severo, no tratado y de larga evolución, con manifestaciones de pseudohipertrofia muscular difusa y debilidad muscular predominantemente proximal, reversible al reemplazo con tiroxina. Es raro en países con programas de pesquisa neonatal. Objetivo: reportar el caso de un niño con diagnóstico de HC por disembriogenesis (atireosis), que se mantuvo con mal control de la enfermedad durante el primer año de vida y manifestaciones miopáticas desde la etapa neonatal. Resultados: se confirma el diagnóstico a través de estudios específicos, con evidencias de patrones miopáticos característicos. Se logra regresión clínica parcial a los nueve meses de mantener estabilidad de la TSH y las hormonas tiroideas (HT), coincidiendo con la normalización de la enzima de músculo creatinfosfoquinasa (CPK). A los 12 años de seguimiento, mantenía ligera hipertrofia de la musculatura de las extremidades superiores, dorsales y glúteos, a pesar de mantenerse eutiroideo. Conclusiones: la presencia de hipertrofia muscular debe considerarse un dato clínico de sospecha de hipotiroidismo, aun con la implementación de los programas de pesquisa neonatal. Es posible la regresión parcial de la pseudohipertrofia muscular con el restablecimiento de la función tiroidea. Se debe tomar en cuenta en el diagnóstico diferencial de otras miopatías primarias

Kocher-Debré-Semelaigne Syndrome (SKDS) is described within the atypical clinical forms associated with severe, untreated and long-standing congenital hypothyroidism with manifestations of diffuse muscle pseudohypertrophy and predominantly proximal muscle weakness, reversible to replacement with levothyroxine. objective: To report the case of a child with congenital hypothyroidism due to disembriogenesis (atyreosis), who remained with poor control of the disease during the 1st year of life and myopathic manifestations from de neonatal stage. Results: The diagnosis is confirmed through specific studies, with evidence of characteristic myopathic patterns. Partial clinical regression is achieved 9 months after maintaining stability of TSH and thyroid hormones, coinciding with the normalization of the muscle enzyme creatine phosphokinase (CPK). At 12 years of follow-up, he maintained slight hypertrophy of the muscle of the upper extremities, dorsal and buttocks, despite remaining euthyroid. Conclusions: The presence of muscular hypertrophy should be considered a clinical finding of suspected hypothyroidism, even with the implementation of neonatal screening programs. Partial regression of muscle pseudohypertrophy is possible with restoration of thyroid function, and should be taken into account in the differential diagnosis of other primary myopathies

Clinical characterization of patients with inflammatory myopathy in 2 tertiary care hospitals in Colombia: A descriptive survey / Caracterización clínica de pacientes con miopatía inflamatoria en 2 instituciones de alta complejidad en Colombia: estudio descriptivo

ABSTRACT Background: There is little information on inflammatory myopathies in Colombia. The objective was to identify the demographic and clinical characteristics of these patients in two tertiary care hospitals between 2010 and 2015. Materials and methods: A descriptive, retrospective survey was carried out, by reviewing medical records and obtaining information on demographic and clinical variables. The qualitative variables were expressed using absolute and relative frequencies, and the quantitative with mean and standard deviation (SD), or median with interquartile ranges (IQR), depending on data distribution. The IBM SPSS 22 statistical package was used. Results: A total of 105 patients with a mean age of 50.4 years (SD: 15.1) were included, with 76 (72.4%) women. In total, 50 subjects (48.5%) had a definitive diagnosis. The most common inflammatory myopathy was dermatomyositis (n = 66; 62.9%). The skin was the most commonly affected organ (n=66; 62.9%). Muscle weakness was present in 60 individuals (57.1%). The most frequent alarm sign was swallowing disorder (n = 28; 26.7%). Creatine phosphokinase was higher in polymyositis, with a median of 1800IU/L (IQR: 365-6157). The most widely used drugs were glucocorticoids (n = 83; 79%). Some patients were refractory to immunosuppressive treatment, mainly in antisynthetase syndrome (n = 5; 35.7%). Five patients (4.8%) died of infections (pneumonia and bacteraemia). Conclusions: In this cohort, the most common entity was dermatomyositis, and the most affected organ was the skin. There was a significant presentation of warning signs, refractoriness to immunosuppressive treatment, and lower muscle enzyme values compared to other cohorts. Mortality was mainly due to infectious complications.

RESUMEN Introducción: Existe poca información sobre las miopatías inflamatorias en Colombia. El obje tivo fue identificar las características demográficas y clínicas de estos pacientes en dos instituciones de alta complejidad entre los arios 2010 y 2015. Materiales y métodos: Se realizó un estudio descriptivo y retrospectivo. Mediante revisión de registros médicos, se obtuvo información sobre variables demográficas y clínicas. Las variables cualitativas se expresaron mediante frecuencias absolutas y relativas, y las cuantitativas con media y desviación estándar (DE) o mediana con rangos intercuartílicos (RIQ), dependiendo de la distribución de los datos. Se utilizó el paquete estadístico IBM SPSS® v.22. Resultados: Se incluyeron 105 pacientes con edad promedio de 50,4 años (DE: 15,1); 76 mujeres (72,4%). En total, 50 sujetos (48,5%) tuvieron diagnóstico definitivo. La miopa tía inflamatoria más común fue dermatomiositis (n = 66; 62,9%). La piel fue el órgano más comúnmente afectado (n = 66; 62,9%). La debilidad muscular estuvo presente en 60 individuos (57,1%). El signo de alarma más frecuente fue el trastorno de la deglución (n = 28; 26,7%). La creatinfosfoquinasa tuvo mayor elevación en polimiositis con una mediana de 1.800 Ul/l (RIQ: 365-6.157). Los medicamentos más utilizados fueron los glucocorticoides (n = 83; 79%). Hubo refractariedad al tratamiento inmunosupresor, principalmente en síndrome antisintetasa (n = 5; 35,7%). Cinco pacientes (4,8%) murieron por infecciones (neumonía y bacteriemia). Conclusiones: En esta cohorte, la entidad más común fue la dermatomiositis y el órgano más afectado fue la piel. Hubo presentación relevante de signos de alarma, refractariedad al tratamiento inmunosupresor y valores de enzimas musculares menores comparados con otras cohortes. La mortalidad fue principalmente por complicaciones infecciosas.

Point of care ultrasound for the diagnosis of polymyalgia rheumatica in chronic seronegative polyarthritis: A case report / Ultrasonografía point of care para el diagnóstico de polimialgia reumática en poliartritis crónica seronegativa: un reporte de caso

ABSTRACT Polymyalgia Rheumatica is one of the most frequent inflammatory musculoskeletal disor ders in adults over 50 years of age that can present with polyarthritis. The case is presented of a 65-year-old woman with chronic disabling severe polyarticular pain associated with polyarthritis. It was initially diagnosed as seronegative rheumatoid arthritis, in which bilateral sub-deltoid and trochanteric bursitis was demonstrated by ultrasound, along with bicipital tenosynovitis, all features of polymyalgia rheumatica. A good clinical and ultrasound response to corticosteroid treatment is also described.

RESUMEN La polimialgia reumática es una de las patologías inflamatorias musculoesqueléticas más frecuentes en adultos mayores de 50 arios que pueden presentarse con poliartritis. Se presenta el caso de una mujer de 65 años con cuadro crónico de dolor poliarticular severo incapacitante, asociado a poliartritis, diagnosticada inicialmente como artritis reumatoide seronegativa, en quien se demostró, mediante ultrasonido, bursitis subdeltoidea y trocantérica bilaterales, así como tenosinovitis bicipital, todas características de polimialgia reumática. Se describe también una buena respuesta clínica y ultrasonográfica al tratamiento con corticoides.

Effects of nitric oxide on C2C12 cell inflammatory responses and notexin-induced muscle injury / Efectos del óxido nítrico en las respuestas inflamatorias de las células C2C12 y la lesión muscular inducida por notexina

SUMMARY: Skeletal muscle injury is an acute inflammatory condition caused by an inflammatory response. To reduce inflammatory cell infiltration and relieve skeletal muscle injury, efficient treatment is urgently needed. Nitric oxide is a free radical molecule reported to have anti-inflammatory effects. In this study, we showed that NO could inhibit the inflammatory response of C2C12 cells in vitro and protect rat skeletal muscle injury from notexin in vivo. NO synthase inhibitor (L-NG-Nitroarginine Methyl Este?L-NAME) and NO donor (sodium nitroprusside dehydrate ?SNP) were used to explore the vital role of lipopolysaccharides (LPSs) in LPS-stimulated C2C12 myoblasts.The expression of IL-18 and IL-1b was upregulated by L-NAME and downregulated by SNP, as indicated by the ELISA results. NO can reduce ASC, Caspase-1, and NLRP3 mRNA and protein levels. Furthermore, NO was detected in the rat model. The results of immunohistochemical staining showed that the production of DMD decreased. We conducted qRT-PCR and western blotting to detect the expression of Jo-1, Mi-2, TLR2, and TLR4 on day 6 post injury following treatment with L-NAME and SNP. The expression of Jo-1, Mi-2, TLR2, and TLR4 was upregulated by L-NAME and significantly reversed by SNP. NO can alleviate C2C12 cell inflammatory responses and protect rat skeletal muscle injury from notexin.

RESUMEN: La lesión del músculo esquelético es una afección inflamatoria aguda causada por una respuesta inflamatoria. Para reducir la infiltración de células inflamatorias y aliviar la lesión del músculo esquelético es necesario un tratamiento eficaz. El óxido nítrico es una molécula de radicales libres que tiene efectos antiinflamatorios. En este estudio, demostramos que el ON podría inhibir la respuesta inflamatoria de las células C2C12 in vitro y proteger la lesión del músculo esquelético de rata de la notexina in vivo. El inhibidor de ON sintasa (L-NG-nitroarginina metil este, L-NAME) y el donante de ON (nitroprusiato de sodio deshidratado, SNP) se utilizaron para explorar el papel vital de los lipopolisacáridos (LPS) en los mioblastos C2C12 estimulados por LPS. La expresión de IL- 18 e IL-1b fue regulada positivamente por L-NAME y regulada negativamente por SNP, como indican los resultados de ELISA. El ON puede reducir los niveles de proteína y ARNm de ASC, Caspasa-1 y NLRP3. Además, se detectó ON en el modelo de rata. Los resultados de la tinción inmunohistoquímica mostraron que disminuyó la producción de DMD. Realizamos qRT-PCR y transferencia Western para detectar la expresión de Jo-1, Mi-2, TLR2 y TLR4 el día 6 después de la lesión después del tratamiento con L-NAME y SNP. La expresión de Jo-1, Mi-2, TLR2 y TLR4 fue regulada positivamente por L- NAME y significativamente revertida por SNP. El ON puede aliviar las respuestas inflamatorias de las células C2C12 en ratas, y proteger la lesión del músculo esquelético de la notexina.

Tandem mass spectrometry and genetic variant analysis of four neonates with very long chain acyl-coenzyme A dehydrogenase deficiency / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical features and genetic variants in four neonates with very long chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency.@*METHODS@#Neonates with a tetradecenoylcarnitine (C14:1) concentration at above 0.4 μmol/L in newborn screening were recalled for re-testing. Four neonates were diagnosed with VLCAD deficiency by MS-MS and genetic testing, and their clinical features and genotypes were analyzed.@*RESULTS@#All cases had elevated blood C14:1, and the values of first recalls were all lower than the initial test. In 2 cases, the C14:1 had dropped to the normal range. 1 case has remained at above 1 μmol/L after the reduction, and the remainder one case was slightly decreased. In total eight variants of the ADACVL genes were detected among the four neonates, which included 5 missense variants and 3 novel variants (p.Met344Val, p.Ala416Val, c.1077+6T>A). No neonate showed salient clinical manifestations.@*CONCLUSION@#Above findings have enriched the spectrum of ADACVL gene mutations and provided a valuable reference for the screening and diagnosis of VLCAD deficiency.

Systemic autoimmune diseases and work outcomes in Brazil: a scoping review

ABSTRACT OBJECTIVE To review articles that assessed work-related outcomes such as workability, work productivity, presenteeism, absenteeism, sick leave, return to work, and employment status of Brazilian patients with rheumatoid arthritis, systemic lupus erythematosus, systemic sclerosis, Sjögren's syndrome, and systemic autoimmune myopathies. METHODS This study was conducted in Medline databases (PubMed), SciELO, and Lilacs through a combination of descriptors of interest. Studies published until December 2020 were considered in the search strategy. RESULTS Eight out of 90 articles met the eligibility criteria and were included in this review. The studies are highly heterogeneous. Most of them are cross-sectional, and all of them address rheumatoid arthritis or systemic lupus erythematosus. A common denominator among these studies is the high proportion of patients outside the labor market. CONCLUSIONS In general, the studies show unfavorable labor outcomes and impaired participation in the Brazilian workforce among the samples of patients assessed. There is a need to better understand several topics about Brazilian patients with systemic autoimmune diseases and their work context, as well as to conduct studies focusing on rarer diseases and on the themes of return and reintegration to work.