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1.
Braz. j. biol ; 84: e253616, 2024. tab, graf
Article in English | LILACS, VETINDEX | ID: biblio-1355880

ABSTRACT

Abstract This study evaluated the effect of the volatile oil of Alpinia zerumbet (VOAz) on caveolin-1 gene expression and muscular fibrosis. The rats were immobilized to induce fibrosis of the gastrocnemius muscle, and they were treated with VOAz. Collagen quality was assessed by histology and the expression of the caveolin-1 (CAV-1) gene was evaluated using qPCR. Histomorphological analysis indicated a significant reduction in the perimeter, width, and intensity of collagen in the treated groups, thus showing that the oil was effective in regulating the quality of collagen at the three concentrations. The results of expression levels suggested a decrease in the lesioned group and in two treatment groups (0.0115 µg/g and 0.009 µg/g). However, with the lowest concentration (0.0065 µg/g), no significant difference was observed, with levels similar to those found in healthy tissue. Therefore, the results showed that VOAz has the potential to be a non-invasive and low-cost alternative to aid in the treatment of muscular fibrosis.


Resumo Este estudo avaliou o efeito do óleo volátil de Alpinia zerumbet (OVAz) na expressão do gene da caveolina-1 e na fibrose muscular. Os ratos foram imobilizados para induzir a fibrose do músculo gastrocnêmio, e foram tratados com OVAz. A qualidade do colágeno foi avaliada com histologia e à expressão do gene caveolina-1 (CAV-1) foi avaliada usando qPCR. A análise histomorfológica indicou uma redução significativa no perímetro, largura e intensidade do colágeno nos grupos tratados. Os resultados dos níveis de expressão sugeriram diminuição nos grupos de lesão e em dois grupos de tratamento (0,0115 µg/g e 0,009 µg/g). No entanto, com a menor concentração (0,0065 µg/g), não foi observada diferença significativa, apresentando níveis semelhantes aos encontrados em tecido saudável. O uso do OVAz foi eficaz para reverter as alterações do colágeno causadas pela fibrose, e sua menor concentração apresentou uma possível tendência de aumento na expressão do CAV-1. Portanto, os resultados mostraram que o OVAz tem potencial para ser uma alternativa não invasiva e de baixo custo para auxiliar no tratamento da fibrose muscular.


Subject(s)
Animals , Rats , Oils, Volatile/pharmacology , Collagen/metabolism , Alpinia/chemistry , Caveolin 1/metabolism , Muscles/drug effects , Fibrosis , Plant Oils/pharmacology , Brazil , Rats, Wistar , Disease Models, Animal , Muscles/pathology
2.
Einstein (Säo Paulo) ; 20: eAO6450, 2022. tab, graf
Article in English | LILACS | ID: biblio-1364794

ABSTRACT

ABSTRACT Objective To understand the feasibility of FGFR3 tests in the Brazilian public health context, and to sample the mutational burden of this receptor in high-grade muscle invasive bladder cancer. Methods A total of 31 patients with high-grade muscle-invasive bladder cancer were included in the present study. Either transurethral resection of bladder tumor or radical cystectomy specimens were analyzed. Formalin-fixed paraffin-embedded tissue blocks were sectioned, hematoxylin and eosin stained, and histologic sections were reviewed. Total RNA was extracted using the RNeasy DSP formalin-fixed paraffin-embedded kit. Qualitative results were displayed in Rotor-Gene AssayManager software. Results Six patients were excluded. From the samples analyzed, four (16.7%) were considered inadequate and could not have their RNA extracted. Two patients presented FGFR3 mutations, accounting for 9.5% of material available for adequate analysis. The two mutations detected included a Y373C mutation in a male patient and a S249C mutation in a female patient. Conclusion FGFR3 mutations could be analyzed in 84% of our cohort and occurred in 9.5% of patients with high-grade muscle invasive bladder cancer in this Brazilian population. FGFR3 gene mutations are targets for therapeutic drugs in muscle-invasive bladder cancer. For this reason, know the frequency of these mutations can have a significant impact on public health policies and costs provisioning.


Subject(s)
Urinary Bladder Neoplasms/genetics , Carcinoma, Transitional Cell/genetics , Carcinoma, Transitional Cell/metabolism , Carcinoma, Transitional Cell/pathology , Receptor, Fibroblast Growth Factor, Type 3/genetics , Receptor, Fibroblast Growth Factor, Type 3/metabolism , Brazil , RNA , Prevalence , Eosine Yellowish-(YS) , Hematoxylin , Muscles/metabolism , Muscles/pathology , Mutation
3.
Medisan ; 25(4)2021. ilus
Article in Spanish | LILACS, CUMED | ID: biblio-1340212

ABSTRACT

Se presenta el caso clínico de un adolescente de 18 años de edad, atendido en el Policlínico Docente Armando García Aspurú de Santiago de Cuba por presentar antecedentes de retardo en el desarrollo psicomotor, marcha anadeante, caídas frecuentes, signo de Gowers positivo, fuerza muscular proximal disminuida en miembros superiores e inferiores, pseudohipertrofia de los gemelos, atrofia de cuádriceps pectoral y escapular. Los signos y síntomas clínicos permitieron diagnosticar una distrofia muscular de Duchenne. Como no pudo realizarse el tratamiento rehabilitador necesario, se produjo un deterioro músculo - esquelético progresivo y severo del paciente.


The case report of an 18 years adolescent is presented. He was assisted at Armando García Aspurú Teaching Polyclinic in Santiago de Cuba due to a history of psychomotor development retardation, wandering march, frequent falls, positive Gowers sign, diminished proximal muscular force in upper and lower limbs, twins pseudohypertrophy, atrophy of pectoralis and scapular quadriceps. The clinical signs and symptoms allowed to diagnose a Duchenne muscular dystrophy. As the necessary rehabilitative treatment could not be carried out, a progressive and severe musculoskeletal deterioration of the patient took place.


Subject(s)
Muscular Dystrophy, Duchenne/diagnosis , Muscular Dystrophy, Duchenne/rehabilitation , Developmental Disabilities/diagnosis , Adolescent , Muscles/pathology
5.
Medicina (B.Aires) ; 79(supl.3): 82-86, set. 2019. ilus, tab
Article in Spanish | LILACS | ID: biblio-1040556

ABSTRACT

Existen importantes avances en el campo de las miopatías congénitas en los últimos años que obligan a la revisión y actualización constante de este grupo de enfermedades. La identificación creciente de nuevos genes y fenotipos asociados a genes ya conocidos, fue posible en gran medida gracias al avance de las técnicas de secuenciación de nueva generación, cada vez más accesibles. El conocer mejor el espectro fenotípico de estas entidades, permite establecer una correlación fenotipo/genotipo en algunos subgrupos. La mejor compresión de la fisiopatología e historia natural de estas enfermedades, son fundamentales para el desarrollo de nuevas terapias. Los primeros ensayos clínicos en el campo de la terapia génica ya son una realidad y están mostrando resultados positivos, creando una nueva expectativa en paciente, familiares y especialistas, lo que se verá reflejado en la necesidad de adaptar los protocolos de atención, diagnóstico y tratamiento de algunas de estas entidades. Es fundamental que los neuropediatras, pediatras, fisioterapeutas y otros profesionales involucrados en el cuidado de estos pacientes, estén informados y actualizados de los avances en este grupo de enfermedades.


Important advances have been made in the field of congenital myopathies in recent years, forcing clinicians to constantly review and update this group of diseases. The increasing identification of new genes and phenotypes associated with already known genes has been possible to a great extent thanks to the development accomplished in next generation sequencing techniques, which are increasingly accessible. Knowing better the phenotypic spectrum of these entities allows to establish a phenotype/genotype correlation in some subgroups. The best understanding of the pathophysiology and natural history of these diseases are fundamental to design new therapies. The first clinical trials in the field of gene therapy are already a reality and are showing positive results, creating a new expectation for patients, families and specialists, which will be reflected in the need to adapt the protocols of care, diagnosis and treatment of some of these entities. It is essential that pediatric neurologists, pediatricians, physiotherapists and other professionals involved in the care of these patients are informed and updated on the advances in this group of diseases.


Subject(s)
Humans , Myotonia Congenita/pathology , Myotonia Congenita/therapy , Phenotype , Genotype , Muscles/physiopathology , Muscles/pathology , Myotonia Congenita/classification , Myotonia Congenita/genetics
6.
Arq. bras. med. vet. zootec. (Online) ; 71(3): 1067-1075, May-June 2019. tab, ilus
Article in English | VETINDEX, LILACS | ID: biblio-1011308

ABSTRACT

The study evaluated the effect of transportation over long distances on cattle muscle tissue of submitted to emergency slaughter in slaughterhouses in northern Tocantins, Brazil. The evaluations consisted in pH, muscle and liver glycogen, muscle histopathology and creatine kinase (CK), alanine aminotransferase (ALT) and aspartate aminotransferase (AST) activity. Animals were placed into two groups: Experimental Group (EG), consisting of 19 bovines intended for immediate emergency slaughter, and Control Group (CG), composed of 24 bovines slaughtered in accordance with the normal flow. CK and ALT levels were high in EG. AST did not differ between groups. EG showed higher muscle pH and mean of degenerate fibers, mainly on the intercostal. However, muscle and liver glycogen did not differ between groups. In conclusion, cattle transported over long distances and subjected to immediate emergency slaughter showed markedly stress condition, with changes in biochemical parameters in the muscle tissue, determined by cellular degeneration.(AU)


O presente trabalho objetivou avaliar o efeito do transporte em longas distâncias sobre o tecido muscular de bovinos encaminhados ao abate de emergência. Foram avaliados pH, glicogênio muscular e hepático, análise histopatológica muscular, creatina quinase (CK), alanina aminotransferase (ALT) e aspartato aminotransferase (AST). Os animais foram alocados em dois grupos: grupo experimental (GE), constituído por 19 bovinos destinados ao abate de emergência, e grupo controle (GC), composto por 24 bovinos abatidos de acordo com o fluxo normal do frigorífico. A CK e a ALT estavam aumentadas no GE. O AST não diferiu entre os grupos. O GE apresentou maior percentual de fibras degeneradas, e o músculo intercostal teve maior quantidade de degenerações. O pH muscular foi superior no GE. O glicogênio muscular e o hepático não diferiram entre os grupos. Concluiu-se que bovinos encaminhados ao abate de emergência sofrem estresse severo pelo transporte por longas distâncias, com alterações bioquímicas no tecido muscular determinada pela degeneração celular.(AU)


Subject(s)
Animals , Cattle , Animal Welfare/ethics , Animal Culling/ethics , Muscles/pathology , Liver Glycogen
7.
Yonsei Medical Journal ; : 337-340, 2018.
Article in English | WPRIM | ID: wpr-713189

ABSTRACT

Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array. Recent studies revealed that the FAT1 expression is associated with disease activity of FSHD, and the FAT1 alterations result in myopathy with a FSHD-like phenotype. We describe a 59-year-old woman with both contracted D4Z4 repeat units and a FAT1 mutation. Shoulder girdle muscle weakness developed at the age of 56 years, and was followed by proximal leg weakness. When we examined her at 59 years of age, she displayed asymmetric and predominant weakness of facial and proximal muscles. Muscle biopsy showed increased variation in fiber size and multifocal degenerating fibers with lymphocytic infiltration. Southern blot analysis revealed 8 D4Z4 repeat units, and targeted sequencing of modifier genes demonstrated the c.10331 A>G variant in the FAT1 gene. This FAT1 variant has previously been reported as pathogenic variant in a patient with FSHD-like phenotype. Our study is the first report of a FAT1 mutation in a FSHD1 patient, and suggests that FAT1 alterations might work as a genetic modifier.


Subject(s)
Female , Humans , Middle Aged , Cadherins/genetics , Magnetic Resonance Imaging , Muscles/pathology , Muscular Dystrophy, Facioscapulohumeral/diagnostic imaging , Mutation/genetics , Phenotype
8.
MedicalExpress (São Paulo, Online) ; 5: mo18008, 2018. tab, graf
Article in English | LILACS | ID: biblio-984750

ABSTRACT

OBJECTIVE: McArdle's disease is a metabolic myopathy that manifests with varied clinical conditions and is often confounded with other diagnoses. Herein, the authors report a case series and carry out a literature review. METHODS: A cross-sectional single-center study evaluating 12 patients with McArdle's disease was conducted. RESULTS: Mean age at onset of symptoms was 28.0±17.4 years, while age at disease diagnosis was 39.0±14.8 years. History of intolerance to physical exercises was observed in 10 cases; muscle weakness in 9, second wind phenomenon in only 1 case. The presence of cramps, fatigue and myalgia was observed in 12, 11 and 9 of the cases respectively. Median creatine phosphokinase level was 5951U/L. Most of the patients (83.3%) were initially diagnosed with another condition (polymyositis, inclusion body myositis, fibromyalgia and/or muscular dystrophy), and approximately half had received glucocorticoids and/or immunosuppressants prior to definitive diagnosis. All patients underwent muscular biopsy, which revealed the presence of subsarcolemmal vacuoles characterized by glycogen deposits, and negative histochemical reaction for the myophosphorylase enzyme. CONCLUSION: The present study reinforces the presence of clinical variability among patients and shows that McArdle's disease should be considered one of the differential diagnoses of inflammatory myopathies and other rheumatic diseases.


OBJETIVO: A doença de McArdle é uma miopatia metabólica que se manifesta com condições clínicas variadas e muitas vezes é confundida com outros diagnósticos. Os autores relatam uma série de casos e realizam uma revisão de literatura. MÉTODOS: Estudo transversal de um único centro em que foram avaliados 12 pacientes com doença de McArdle. RESULTADOS: A média de idade no início dos sintomas foi de 28,0±17,4 anos, enquanto a idade no diagnóstico da doença foi de 39,0±14,8 anos. História de intolerância ao exercício físico foi observada em 10 dos casos; fraqueza muscular em 9; fenômeno do "second wind" em apenas 1 caso. A presença de câimbras, fadiga e mialgia foi observada, respectivamente, em 12, 11 e 9 dos casos. O nível mediano de creatinafosfoquinase foi de 5951U/L. Oito pacientes foram inicialmente diagnosticados com outra condição (polimiosite, miosite de corpos de inclusão, fibromialgia e/ou distrofia muscular), e aproximadamente metade havia recebido glicocorticoides e/ou imunossupressores antes do diagnóstico definitivo. Todos os pacientes foram submetidos à biópsia muscular, que revelou a presença de vacúolos subsarcolêmicos caracterizados por depósitos de glicogênio e reação histoquímica negativa para a enzima miofosforilase. CONCLUSÕES: O presente estudo reforça a presença de variabilidade clínica entre pacientes e mostra que a doença de McArdle deve ser considerada um dos diagnósticos diferenciais de miopatias inflamatórias e outras doenças reumáticas.


Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , Middle Aged , Glycogen Storage Disease Type V/diagnosis , Rheumatic Diseases/diagnosis , Muscular Diseases/diagnosis , Biopsy , Magnetic Resonance Spectroscopy , Glycogen Storage Disease Type V/physiopathology , Cross-Sectional Studies , Cohort Studies , Immunoglobulins, Intravenous/therapeutic use , Consanguinity , Creatine Kinase/blood , Diagnosis, Differential , Electromyography , Delayed Diagnosis , Acute Kidney Injury , Glucocorticoids/therapeutic use , Immunosuppressive Agents/therapeutic use , Muscles/pathology , Muscular Diseases/drug therapy
9.
Journal of Forensic Medicine ; (6): 120-124, 2017.
Article in Chinese | WPRIM | ID: wpr-984913

ABSTRACT

OBJECTIVES@#To explore the relationship between the change rules of volatile organic compounds (VOCs) in rat muscle and postmortem interval (PMI).@*METHODS@#A total of 120 healthy rats were divided randomly into 12 groups (10 for each group). After the rats were sacrificed by cervical dislocation, the bodies were kept at (25±1) ℃. Rat muscle samples were separately obtained at 12 PMI points, including 0, 0.5, 1, 2, 3, 4, 5, 6, 7, 8, 9 and 10 d. The VOCs in rat muscles were collected, detected and analyzed by headspace solid-phase microextraction (HS-SPME) coupled to gas chromatography-mass spectrometer (GC-MS).@*RESULTS@#In total, 15 species of VOCs were identified, including 9 aromatic compounds, 3 sulfur compounds, 2 aliphatic acids and 1 heterocyclic compound. The species of VOCs increased with PMI: no species were detected within 1 day, 3 species were detected on day 2, 9 on day 3, 11 on day 4, 14 from day 5 to 7, and 15 from day 8 to 10. Total peak area of 15 species of VOCs was significantly correlated to PMI (adjusted R²=0.15-0.96): the regression function was y=-17.05 x²+ 164.36 x-246.36 (adjusted R²=0.96) from day 2 to 5, and y=2.24 x+101.13 (adjusted R²=0.97) from day 6 to 10.@*CONCLUSIONS@#The change rules of VOCs in rat muscle are helpful for PMI estimation.


Subject(s)
Animals , Rats , Autopsy , Gas Chromatography-Mass Spectrometry/methods , Muscles/pathology , Solid Phase Microextraction , Volatile Organic Compounds/chemistry
10.
Biol. Res ; 49: 1-9, 2016. tab
Article in English | LILACS | ID: lil-774431

ABSTRACT

BACKGROUND: Coenzyme Q10 (CoQ10 or ubiquinone) deficiency can be due either to mutations in genes involved in CoQ10 biosynthesis pathway, or to mutations in genes unrelated to CoQ10 biosynthesis. CoQ10 defect is the only oxidative phosphorylation disorder that can be clinically improved after oral CoQ10 supplementation. Thus, early diagnosis, first evoked by mitochondrial respiratory chain (MRC) spectrophotometric analysis, then confirmed by direct measurement of CoQ10 levels, is of critical importance to prevent irreversible damage in organs such as the kidney and the central nervous system. It is widely reported that CoQ10 deficient patients present decreased quinone-dependent activities (segments I + III or G3P + III and II + III) while MRC activities of complexes I, II, III, IV and V are normal. We previously suggested that CoQ10 defect may be associated with a deficiency of CoQ10-independent MRC complexes. The aim of this study was to verify this hypothesis in order to improve the diagnosis of this disease. RESULTS: To determine whether CoQ10 defect could be associated with MRC deficiency, we quantified CoQ10 by LC-MSMS in a cohort of 18 patients presenting CoQ10-dependent deficiency associated with MRC defect. We found decreased levels of CoQ10 in eight patients out of 18 (45 %), thus confirming CoQ10 disease. CONCLUSIONS: Our study shows that CoQ10 defect can be associated with MRC deficiency. This could be of major importance in clinical practice for the diagnosis of a disease that can be improved by CoQ10 supplementation.


Subject(s)
Adolescent , Adult , Aged , Child , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Young Adult , Ataxia/genetics , Electron Transport/genetics , Mutation , Mitochondrial Diseases/genetics , Muscle Weakness/genetics , Ubiquinone/analogs & derivatives , Ubiquinone/deficiency , Ataxia/diagnosis , Ataxia/metabolism , Biopsy , Cells, Cultured , Chromatography, Liquid , Fibroblasts/enzymology , Mitochondrial Diseases/diagnosis , Mitochondrial Diseases/metabolism , Muscle Weakness/diagnosis , Muscle Weakness/metabolism , Muscles/pathology , Spectrophotometry/methods , Tandem Mass Spectrometry/methods , Ubiquinone/biosynthesis , Ubiquinone/genetics , Ubiquinone/metabolism
11.
Yonsei Medical Journal ; : 831-839, 2016.
Article in English | WPRIM | ID: wpr-26893

ABSTRACT

PURPOSE: To examine the usefulness of various receptor tyrosine kinase expressions as prognostic markers and therapeutic targets in muscle invasive urothelial cancer (UC) patients. MATERIALS AND METHODS: We retrospectively analyzed the data of 98 patients with muscle invasive UC who underwent radical cystectomy between 2005 and 2010 in Yonsei Cancer Center. Using formalin fixed paraffin embedded tissues of primary tumors, immunohistochemical staining was done for human epidermal growth factor receptor 2 (HER2), fibroblast growth factor receptor 1 (FGFR1), and fibroblast growth factor receptor 3 (FGFR3). RESULTS: There were 41 (41.8%), 44 (44.9%), and 14 (14.2%) patients who have over-expressed HER2, FGFR1, and FGFR3, respectively. In univariate analysis, significantly shorter median time to recurrence (TTR) (12.9 months vs. 49.0 months; p=0.008) and overall survival (OS) (22.3 months vs. 52.7 months; p=0.006) was found in patients with FGFR1 overexpression. By contrast, there was no difference in TTR or OS according to the HER2 and FGFR3 expression status. FGFR1 remained as a significant prognostic factor for OS with hazard ratio of 2.23 (95% confidence interval: 1.27-3.90, p=0.006) in multivariate analysis. CONCLUSION: Our result showed that FGFR1 expression, but not FGFR3, is an adverse prognostic factor in muscle invasive UC patients after radical cystectomy. FGFR1 might be feasible for prognosis prediction and a potential therapeutic target after thorough validation in muscle invasive UC.


Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Carcinoma/metabolism , Cystectomy , Multivariate Analysis , Muscles/pathology , Neoplasm Invasiveness , Prognosis , Proportional Hazards Models , Receptor, ErbB-2/metabolism , Receptor, Fibroblast Growth Factor, Type 1/metabolism , Receptor, Fibroblast Growth Factor, Type 3/metabolism , Retrospective Studies , Survival Rate , Urinary Bladder Neoplasms/metabolism , Urothelium/pathology
13.
Rev. bras. ortop ; 49(6): 573-580, Nov-Dec/2014. tab
Article in English | LILACS | ID: lil-732899

ABSTRACT

Objective: To evaluate the management, procedures and perspectives of sports physicians and orthopedists in Brazil with regard to diagnosing and treating muscle injuries. Methods: A questionnaire containing 20 questions relating to the topic of muscle injury was applied to sports physicians and orthopedists during the Second Brazilian Congress of Arthroscopy and Sports Traumatology, in 2013. Results: Completely answered questionnaires were received from 168 sports physicians and orthopedists. Doctors from all regions of Brazil with a mean of 11 years of experience of treating muscle injuries were interviewed. Lower limbs were affected in 97% of the cases, particularly the quadriceps, adductor and sural triceps. The injury occurred during the eccentric phase in 62% of the interviews; 39% underwent ultrasound examination and 37% magnetic resonance imaging (MRI) for the injury to be diagnosed. Medication, rest and cryotherapy during the acute phase (87.5%) and medication, rest and physiotherapy during treatment of the injury (56%) were the prevalent options. The criteria for returning to sports were very subjective and disparate among the options presented, and most of the interviewees had already used some therapy that was adjuvant to traditional methods. Conclusion: The number of muscle injuries treated per year was greater than 30, independent of whether in the public or private sector. These injuries occurred mainly at the muscle–tendon junction, in the lower limbs and during the eccentric phase of muscle contraction. Ultrasound was the examination most performed, while MRI was considered ideal. For most of the interviewees, the preferred treatment involved rest, medication and physiotherapy. In addition, 52% believed that platelet-rich plasma was an efficient treatment and 42% said that they had already used it...


Objetivo: Avaliar as condutas, os procedimentos e as perspectivas do médico do esporte e ortopedista do Brasil no diagnóstico e no tratamento de lesões musculares. Métodos: Questionário com 20 questões relacionadas ao tema lesão musculares. Foi aplicado em médicos do esporte e ortopedistas durante o II Congresso Brasileiro de Artroscopia e Traumatologia do Esporte, em 2013. Resultados: Responderam completamente o questionário 168 médicos do esporte e ortopedistas. Foram entrevistados médicos de todas as regiões do Brasil, com média de 11 anos de experiência no tratamento da lesão muscular. Membros inferiores são acometidos em 97% dos casos, principalmente quadríceps, adutor e tríceps sural. A lesão ocorre na fase excêntrica para 62% dos entrevistados, 39% fazem ultrassom (USG) e 37% ressonância magnética (RM) para diagnóstico da lesão. Medicação, repouso e crioterapia na fase aguda (87,5%) e medicação, repouso e fisioterapia durante o tratamento da lesão (56%) são as opções prevalentes. Os critérios de retorno ao esporte foram bastante subjetivos e díspares entre as opções apresentadas e a maioria dos entrevistados já usou alguma terapia adjuvante às tradicionais. Conclusão: O número de lesões musculares tratadas anualmente é superior a 30, independentemente de se no setor público ou privado. Ocorre principalmente na junção miotendínea, nos membros inferiores e na fase excêntrica da contração muscular. O USG é o exame mais feito e a RM o considerado ideal. Para a maioria dos entrevistados o tratamento de escolha envolve repouso, medicação e fisioterapia. Além disso, 52% acreditam na eficiência do plasma rico em plaquetas (PRP) e 42% referem já tê-lo usado...


Subject(s)
Humans , Muscles/injuries , Muscles/pathology
14.
Arq. neuropsiquiatr ; 72(9): 721-734, 09/2014. tab, graf
Article in English | LILACS | ID: lil-722145

ABSTRACT

Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function. Detailed clinical, laboratorial, imaging, diagnostic flowchart, photographs, tables, and illustrated diagrams are presented for the differential diagnosis of common autosomal recessive limb girdle muscular dystrophy subtypes diagnosed nowadays at one reference center in Brazil. Preoperative image studies guide muscle biopsy site selection. Muscle involvement image pattern differs depending on the limb girdle muscular dystrophy subtype. Muscle involvement is conspicuous at the posterior thigh in calpainopathy and fukutin-related proteinopathy; anterior thigh in sarcoglycanopathy; whole thigh in dysferlinopathy, and telethoninopathy. The precise differential diagnosis of limb girdle muscular dystrophies is important for genetic counseling, prognostic orientation, cardiac and respiratory management. Besides that, it may probably, in the future, provide specific genetic therapies for each subtype.


As distrofias musculares progressivas cintura-membros são desordens neuromusculares hereditárias autossômicas heterogêneas. Elas produzem alterações distróficas à biópsia muscular e estão associadas a mutações em diversos genes envolvidos na estrutura e função muscular. Fluxograma diagnóstico, fotos, tabelas e diagramas ilustrados dos aspectos clínicos, laboratoriais e de imagem são apresentados para o diagnóstico diferencial de distrofias musculares cintura-membros autossômicas recessivas comuns, diagnosticadas atualmente em um centro de referência no Brasil. Exames de imagem pré-operatórios direcionam o local da biópsia muscular. O padrão de envolvimento muscular difere de acordo com o subtipo de distrofia muscular cintura-membros. A substituição fibroadiposa do tecido muscular é mais acentuada no compartimento posterior da coxa na calpainopatia e proteinopatia relacionada à fukutina; anterior da coxa na sarcoglicanopatia; difusa na coxa na disferlinopatia e teletoninopatia. O diagnóstico diferencial preciso das distrofias musculares cintura-membros é importante para o aconselhamento genético, orientação prognóstica, tratamento cardíaco e respiratório. Além disso poderá, no futuro, provavelmente, propiciar terapias gênicas específicas para cada subtipo.


Subject(s)
Female , Humans , Male , Muscular Dystrophies, Limb-Girdle/diagnosis , Biopsy , Diagnosis, Differential , Medical Illustration , Muscles/pathology , Muscles , Muscular Dystrophies, Limb-Girdle/genetics , Tomography, X-Ray Computed
16.
Indian J Cancer ; 2014 Feb; 51(6_Suppl): s52-55
Article in English | IMSEAR | ID: sea-156788

ABSTRACT

BACKGROUND AND AIMS: In recent years, submucosal tunneling endoscopic resection (STER) was applied more and more often for single gastrointestinal (GI) submucosal tumor (SMT). However, little is known about this technique for treating multiple SMTs in GI tract. In the present study, we investigated the feasibility and outcome of STER for upper GI multiple SMTs originating from the muscularis propria (MP) layer. PATIENTS AND METHODS: A feasibility study was carried out including a consecutive cohort of 23 patients with multiple SMTs from MP layer in esophagus, cardia, and upper corpus who were treated by STER from June 2011 to June 2014. Clinicopathological, demographic, and endoscopic data were collected and analyzed. RESULTS: All of the 49 SMTs were resected completely by STER technique. Furthermore, only one tunnel was built for multiple SMTs of each patient in this study. En bloc resection was achieved in all 49 tumors. The median size of all the resected tumors was 1.5 cm (range 0.8–3.5 cm). The pathological results showed that all the tumors were leiomyoma, and the margins of the resected specimens were negative. The median procedure time was 40 min (range: 20–75 min). Gas‑related complications were of the main complications, the rates of subcutaneous emphysema and pneumomediastinum, pneumothorax, and pneumoperitoneum were 13.0%, 8.7% and 4.3%. Another common complication was thoracic effusion that occurred in 2 cases (8.7%), among which only 1 case (4.3%) with low‑grade fever got the drainage. Delayed bleeding, esophageal fistula or hematocele, and infection in tunnel were not detected after the operation there were no treatment‑related deaths. The median hospital stay was 4 days (range, 2–9 days). No residual or recurrent lesion was found during the follow‑up period (median 18, ranging 3–36 months). CONCLUSION: Submucosal tunneling endoscopic resection is a safe and efficient technique for treating multiple esophageal SMTs originating from MP layer, which can avoid patients suffering repeated resections.


Subject(s)
Endoscopy/methods , Esophagoscopy/methods , Gastric Mucosa/pathology , Gastrointestinal Neoplasms/pathology , Gastrointestinal Neoplasms/surgery , Gastrointestinal Stromal Tumors/pathology , Gastrointestinal Stromal Tumors/surgery , Humans , Muscles/pathology
17.
Int. j. morphol ; 29(4): 1303-1306, dic. 2011. ilus
Article in Spanish | LILACS | ID: lil-627005

ABSTRACT

El desempeño de los pies influye en la postura, marcha y en el uso de calzados. Deformidades pueden surgir debido a alteraciones estructurales provocadas por el desequilibrio muscular como parece suceder en el hallux valgus (HV). El músculo aductor del hallux (MAH) es considerado importante en la presencia de ese desequilibrio. Analisamos la acción del MAH, en la dinámica del hallux y del antepie sano, así como en la génesis del HV. Se disecaron 28 pies aislados (3 com HV), fijados en formol, del Laboratorio de Anatomía de la Facultad de Medicina de Petrópolis/FASE/RJ para obtener los datos morfométricos del MAH: largo de las cabezas (L-CT; L-CO); ancho de las cabezas (A-CT; A-CO) y ángulo entre las cabezas (q). Los valores medios (mm), obtenidos en los pies sin deformidades: L-CT= 27,04; L-CO= 51,45; A-CT=13,23; A-CO=17,58; q (CT/CO)=31°; y en los con HV: L-CT=23,80; A-CT=12,03; L-CO=48,25; A-CO=16,89; q (CT/CO)=52. La morfología del MAH osciló entre pies sin y con HV. El MAH al fijarse en las articulaciones metatarsofalángicas (CT) y en el hueso sesamoideo lateral del hallux (CT+CO) puede ser causa o consecuencia de la variación del q (CT/CO), llevando al valgismo del hallux. La amputación del hallux podrá aplanar el arco transverso anterior debido a la tensión muscular, dificultando las funciones del pie en el apoyo y en la marcha.


The performance of the feet interferes on the posture, walk and on the wear of shoes. Deformities may appear due to structural changes motivated by the muscular imbalance as it seems to happen on hallux valgus (HV). The adductor hallucis muscle is considered important at this imbalance. Analyze the role of the AHM on the dynamics of the hallux and the forefoot as well as in the genesis of the HV. Dissection of 28 isolated feet (3 with HV), preserved in formaldehyde acquired from the Anatomy Laboratory of Petrópolis School of Medicine to obtain the morphometry of the HAM: length of the oblique and transverse heads (L-TH; L-OH); width of the heads (W-TH; W-OH) and angle between the heads (q). Medium values (mm), obtained from the feet without the deformity L-TH= 27.04; W-TH=13.23; L-OH= 51,45; W-OH=17.58 ; q (TH/OH) =31, and the ones with HV: L-TH=23.80; W-TH=12.03; L-OH=48.25;W-OH=16.89; q (CT/CO)=52. The morphology of the AHM varies between the healthy and the feet with the HV. The AHM fixing on the metatarsal phalangeal joints and on the lateral sesamoid of the great toe may be the cause or the consequence of the q (CT/CO) variance that leads to the HV. The amputation of the great toe may flatten the anterior transverse arch, by muscular tension, hindering the functions of the foot such as support and walk.


Subject(s)
Humans , Male , Female , Adult , Hallux Valgus/pathology , Hallux/anatomy & histology , Muscles/anatomy & histology , Muscles/pathology , Cadaver
19.
Acta fisiátrica ; 17(4)dez. 2010.
Article in Portuguese | LILACS | ID: lil-602514

ABSTRACT

A eletroneuromiografia (ENMG) é empregada como método de diagnóstico complementar no diagnóstico de radiculopatia desde 1950, contribuindo com importantes informações para o esclarecimento diagnóstico, planejamento do tratamento e acompanhamento evolutivo dos pacientes. A presente revisão baseada em evidências buscou referências com ênfase na indicação, sensibilidade, especificidade, reprodutibilidade e limitações do uso desse exame na avaliação das radiculopatias cervicais e lombossacrais. As referências apontam a ENMG como um exame bastante útil tanto na triagem quanto no diagnóstico diferencial na suspeita de radiculopatia cervical ou lombossacra, bem como na avaliação do grau e extensão da lesão, quando respeitadas as limitações da técnica.


Electromyography (EMG) has been employed as a complementary method in the diagnosis of radiculopathy since 1950, contributing important information for diagnostic clarification, treatment planning and patient follow-up. This evidence based review sought references with emphasis on the recommendation, sensibility, specificity, reproducibility and limitations of the use of this test in the evaluation of cervical and lumbosacral radiculopathy. The references point to EMG as being an extremely useful test both in the screening and in the differential diagnosis in the suspicion of cervical or lumbosacral radiculopathy, as well as in the evaluation of the degree and extent of the injury, when the limitations of the technique are considered.


Subject(s)
Humans , Cervical Vertebrae , Intervertebral Disc Displacement , Neuromuscular Junction/pathology , Lumbar Vertebrae , Muscles/pathology , Peripheral Nerves/pathology , Radiculopathy , Radiculopathy/diagnosis , Diagnostic Imaging , Electromyography
20.
Rev. chil. radiol ; 16(2): 53-58, 2010. ilus
Article in Spanish | LILACS | ID: lil-577491

ABSTRACT

A case report of a patient with treated Non-Hodgkin Lymphoma is presented. In his usual tomographic control patient was requested a PET-CT scan to supplement prior study that showed a metabo-lically active focus on the left adductor muscle without evident tomographic correlation. Lesion underwent both a soft tissue ultrasound study and a directed biopsy, the latter being positive for secondary infiltration by lymphoma. This case has demonstrated the usefulness of applying complementary techniques in the management of these lesions, mainly of PET-CT scans in the study of unusual sites of spread. This combined medical imaging technique allows accurate lesion localization, which in turn permits performance of a subsequent directed study.


Se presenta un caso clínico de paciente con linfoma no Hodgkin tratado; en control tomográfico habitual se le solicitó PET-CT para complementar su estudio, que demuestra un foco metabólicamente activo en el espesor de músculo aductor izquierdo sin traducción tomográfica evidente. La lesión fue estudiada con ultrasonografia de partes blandas y biopsia dirigida, que resultó positiva para infiltración secundaria por linfoma. Este caso demuestra la utilidad de las técnicas complementarias en el manejo de estos pacientes, en especial la utilidad del PET-CT en el estudio de sitios inhabituales de diseminación. En este examen existe la posibilidad de identificar con precisión la localización de las lesiones mediante la TC complementaria, lo que permite efectuar posteriormente el estudio dirigido.


Subject(s)
Humans , Male , Middle Aged , Lymphoma, Non-Hodgkin , Lymphoma, Non-Hodgkin/pathology , Muscles , Muscles/pathology , Neoplasm Metastasis , Positron-Emission Tomography , Tomography, X-Ray Computed
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