RESUMO
Although distal stifle joint nerve distribution has been well established in domestic animals, this approach is scarcely reported in wild animals. Therefore, the aim of this study was to describe the nerves of the leg and foot of Myrmecophaga tridactyla with emphasis on their ramification, distribution, topography and territory of innervation. For this purpose, six adult cadavers fixed and preserved in 10% formalin solution were used. The nerves of the leg and foot of the M. tridactyla were the saphenous nerve (femoral nerve branch), fibular and tibial nerves and lateral sural cutaneous nerve (branches of the sciatic nerve) and caudal sural cutaneous nerve (tibial nerve branch). The saphenous nerve branches to the skin, the craniomedial surface of the leg, the medial surface of the tarsal and metatarsal regions and the dorsomedial surface of the digits I and II (100% of cases), III (50% of cases) and IV (25% of cases). The lateral sural cutaneous nerve innervates the skin of the craniolateral region of the knee and leg. The fibular nerve innervates the flexor and extensor muscles of the tarsal region of the digits and skin of the craniolateral surface of the leg and dorsolateral surface of the foot. The tibial nerve innervates the extensor muscles of the tarsal joint and flexor, adductor and abductor muscles of the digits and the skin of the plantar surface. The caudal sural cutaneous nerve innervates the skin of the caudal surface of the leg. The nerves responsible for the leg and foot innervation were the same as reported in domestic and wild animals, but with some differences, such as the more distal division of the common fibular nerve, the absence of dorsal metatarsal branches of the deep fibular nerve and a greater involvement of the saphenous nerve in the digital innervation with branches to the digits III and IV, in addition to digits I and II...
Apesar de bem estabelecida nos animais domésticos, a abordagem da distribuição nervosa distal do joelho é rara em animais selvagens. Portanto, o objetivo deste estudo foi descrever os nervos da perna e pé do Myrmecophaga tridactyla, com ênfase na sua ramificação, distribuição, topografia e território de inervação. Para tanto, foram utilizados seis cadáveres adultos, fixados e conservados em solução de formalina a 10%. A dissecação envolveu desde a formação dos nervos femoral e isquiático pelos ramos ventrais dos nervos espinhais lombares e sacrais até sua distribuição nos territórios propostos. Os nervos responsáveis pela inervação da perna e pé do M. tridactyla foram o N. safeno (ramo do N. femoral), os nervos fibular comum e tibial e o N. cutâneo lateral da sura (derivados do N. isquiático) e o N. cutâneo caudal da sura (ramo do N. tibial). O nervo safeno emite ramos cutâneos para a superfície craniomedial da perna, medial do tarso e metatarso e dorsomedial dos dedos I e II (100% dos casos), III (50% dos casos) e IV (25% dos casos). O nervo cutâneo lateral da sura inerva a região cutânea craniolateral do joelho e perna. O nervo fibular inerva os músculos flexores do tarso e extensores dos dedos e a região cutânea craniolateral da perna e dorsolateral do pé. O nervo tibial inerva os músculos extensores do tarso e flexores, adutores e abdutores dos dedos e região cutânea plantar. O nervo cutâneo caudal da sura inerva a pele da face caudal da perna. Pode-se concluir que os nervos responsáveis pela inervação da perna e pé foram os mesmos relatados em animais domésticos e selvagens, porém com algumas diferenças, como a divisão mais distal do nervo fibular comum, ausência de ramos metatarsianos dorsais do N. fibular profundo e uma maior participação do nervo safeno na inervação digital, contribuindo com ramos inclusive para os dedos III e IV, além dos dedos I e II...
Assuntos
Animais , Miopatias Distais , Sistema Nervoso Periférico , Nervo Fibular , Nervo Tibial , Neuropatias Fibulares/veterináriaRESUMO
BACKGROUND: GNE myopathy is characterized by early-adult-onset distal myopathy sparing quadriceps caused by mutations in the GNE gene encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, an enzyme in the sialic-acid synthesis pathway. CASE REPORT: A 27-year-old Korean woman presented a rapid deterioration in strength of the distal lower limbs during her first pregnancy. She was diagnosed with GNE myopathy and carrying the compound heterozygous mutations of the GNE gene (D208N/M29T). CONCLUSIONS: This is a representative case implying that an increased requirement of sialic acid during pregnancy might trigger a clinical worsening of GNE myopathy.
Assuntos
Adulto , Feminino , Humanos , Gravidez , Miopatias Distais , Remoção , Extremidade Inferior , Doenças Musculares , Ácido N-Acetilneuramínico , FosfotransferasesRESUMO
PURPOSE: Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is an autosomal recessive neuromuscular disorder characterized by early adult-onset weakness of the distal muscles of the lower limbs. The clinical spectrum of GNE myopathy varies, and it is not clear how the same GNE gene mutations can result in different phenotypes. Here, we present clinical, pathological and genetic characteristics of twenty-one Korean patients with GNE myopathy. MATERIALS AND METHODS: Twenty-one GNE myopathy patients were included in this study, conducted from 2004 to 2011. Based on medical records, patients' gender, onset age, family history, clinical history, serum creatine kinase (CK) level, neurologic examination, findings of muscle biopsy, muscle imaging findings and electrophysiologic features were extensively reviewed. Mutation of the GNE gene (9p13.3) was confirmed by DNA direct sequencing analysis in all patients. RESULTS: The mean onset age was 23.8+/-8.8 years (mean+/-SD). Patient serum CK levels were slightly to moderately elevated, ranging from 41 to 2610 IU. Among the patients, twelve patients were female and nine patients were male. Except for eight patients, all of the patients presented initially with only distal muscle weakness in the lower extremities. The most common mutation was V572L, followed by C13S. CONCLUSION: The clinical manifestations of our patients with GNE mutations varied. Among twenty-one patients, thirteen patients showed the typical GNE myopathy phenotype. There was no relationship between clinical features and site of mutation. Therefore, we suggest that neither homozygous nor compound heterozygous models are correlated with disease phenotype or disease severity.
Assuntos
Adolescente , Adulto , Feminino , Humanos , Masculino , Creatina Quinase/sangue , Miopatias Distais/diagnóstico , Complexos Multienzimáticos/genética , República da Coreia , Análise de Sequência de DNARESUMO
OBJETIVO: Determinar, através de dissecção em cadáveres frescos, a anatomia topográfica do nervo tibial e seus ramos ao nível do tornozelo, em relação ao túnel do tarso. MÉTODOS: Foram realizadas dissecções bilaterais em 26 cadáveres frescos e as localizações da bifurcação do nervo tibial e seus ramos aferidas em milímetros, com relação ao eixo maleolar-calcaneal (EMC). Para os ramos calcâneos, a quantidade e seus respectivos nervos de origens também foram analisados. RESULTADOS: A bifurcação do nervo tibial ocorreu sob o túnel em 88% dos casos e proximalmente em 12%. Quanto aos ramos calcâneos, o medial apresentou-se com um (58%), dois (34%) e três (8%) ramos, com a origem mais comum do nervo tibial (90%) e o inferior com ramo único por perna, tendo o nervo plantar lateral como origem mais comum (70%). Nivel de Evidência V, Opinião de especialista.
OBJECTIVE: Determine, through dissection in fresh cadavers, the topographic anatomy of the tibial nerve and its branches at the ankle, in relation to the tarsal tunnel. METHODS: Bilateral dissections were performed on 26 fresh cadavers and the locations of the tibial nerve bifurcation and its branches were measured in millimeters. For the calcaneal branches, the amount and their respective nerves of origin were also analyzed. RESULTS: The tibial nerve bifurcation occurred under the tunnel in 88% of the cases and proximally in 12%. As for the calcaneal branches, the medial presented with one (58%), two (34%) and three (8%) branches, with the most common source occurring in the tibial nerve (90%) and the lower with a single branch per leg and lateral plantar nerve as origin most common (70%). Level of Evidence, V Expert opinion.
Assuntos
Humanos , Miopatias Distais , Nervo Tibial/anatomia & histologia , Nervos Periféricos/fisiopatologia , Síndrome do Túnel do Tarso , Cadáver , Complicações do Diabetes , Dissecação , HistologiaRESUMO
Dysferlinopathy is caused by mutations in the DYSF gene. To characterize the clinical spectrum, we investigated the characteristics of 31 Korean dysferlinopathy patients confirmed by immunohistochemistry. The mean age of symptom onset was 22.23 +/- 7.34 yr. The serum creatine kinase (CK) was highly increased (4- to 101-fold above normal). The pathological findings of muscle specimens showed nonspecific dystrophic features and frequent inflammatory cell infiltration. Muscle imaging studies showed fatty atrophic changes dominantly in the posterolateral muscles of the lower limb. The patients with dysferlinopathy were classified by initial muscle weakness: fifteen patients with Miyoshi myopathy phenotype (MM), thirteen patients with limb girdle muscular dystrophy 2B phenotype (LGMD2B), two patients with proximodistal phenotype, and one asymptomatic patient. There were no differences between LGMD2B and MM groups in terms of onset age, serum CK levels and pathological findings. Dysferlinopathy patients usually have young adult onset and high serum CK levels. However, heterogeneity of clinical presentations and pathologic findings upon routine staining makes it difficult to diagnose dysferlinopathy. These limitations make immunohistochemistry currently the most important method for the diagnosis of dysferlinopathy.
Assuntos
Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Idade de Início , Creatina Quinase/sangue , Miopatias Distais/patologia , Imuno-Histoquímica , Proteínas de Membrana/genética , Proteínas Musculares/genética , Atrofia Muscular/patologia , Distrofia Muscular do Cíngulo dos Membros/diagnóstico , Mutação , Fenótipo , República da Coreia , Tomografia Computadorizada por Raios XRESUMO
<p><b>OBJECTIVE</b>To compare the clinical, pathological, laboratory test and follow-up data between familial and sporadic patients with distal myopathy with rimmed vacuoles (DMRV) and discuss the characteristics of this disorder in Chinese population.</p><p><b>METHODS</b>The clinical and pathological features, laboratory data and follow-up results of 33 sporadic and 4 familial cases of pathologically confirmed DMRV were summarized and compared retrospectively.</p><p><b>RESULTS</b>The patients age, onset age, or disease duration showed no significant difference between sporadic and familial cases; the onset pattern and affected muscle groups were also similar, but the sporadic cases showed more frequent dysmorphic features than the familial cases. The patients showed mild to moderate elevation of the muscle enzymes by one to three folds, and the familial patients had more significant elevation than the sporadic ones. No correlation was found between the disease duration and the level of muscle enzymes. The pathological findings were similar between the cases, and Gomori staining showed rimmed vacuoles and inclusion bodies without inflammatory cell infiltration. Follow-up results of 29 cases showed no significant difference between the two groups. The disease was slowly progressive and severely affected the quality of life of the patients, but did not produce obvious effect on the life expectancy.</p><p><b>CONCLUSION</b>The clinical, pathological and laboratory data of Chinese DMRV patients are basically similar to those of Japanese cases. Sporadic cases tend to show more dysmorphic features than the familial ones, and occasional sporadic cases have early disease onset in early childhood.</p>
Assuntos
Adulto , Feminino , Humanos , Masculino , Adulto Jovem , Povo Asiático , Miopatias Distais , Classificação , Genética , Patologia , Corpos de Inclusão , Patologia , Linhagem , Estudos Retrospectivos , Vacúolos , PatologiaRESUMO
<p><b>OBJECTIVE</b>To investigate GNE gene mutations in 5 Chinese patients with distal myopathy with rimmed vacuoles (DMRV).</p><p><b>METHODS</b>Five patients with typical clinical and pathological features of DMRV were studied. All the 11 coding exons and the flanking intron sequences of GNE gene were amplified by PCR and sequenced. Four family members of case 5 were also examined for GNE gene mutations.</p><p><b>RESULTS</b>All the patients were identified to have different GNE gene mutations: Cases 1-4 had complex heterozygous mutations and case 5 had homozygous mutation. Six reported mutations had been identified, including 1 nonsense mutation (p.R8X) and 5 missense mutations (p.D176V, p.I298T, p.A591T, P.A631V, and p.V696M). A novel mutation (c.317T>C, p.I106T) was identified in case 2.</p><p><b>CONCLUSION</b>This is the first report of p.R8X, p.I298T, p.A591T and p.V696M mutations in GNE gene in Chinese population, and a novel mutation p.I106T was identified. These findings further expand the clinical and genetic spectrum of DMRV in China.</p>
Assuntos
Adulto , Feminino , Humanos , Masculino , Adulto Jovem , Povo Asiático , Genética , Sequência de Bases , Análise Mutacional de DNA , Miopatias Distais , Genética , Dados de Sequência Molecular , Complexos Multienzimáticos , Genética , Mutação , Genética , Mutação de Sentido Incorreto , GenéticaRESUMO
Las fracturas del tercio distal del radio ocupan un gran porcentaje de discapacidad a diario en nuestro país ya que representa más del 12% de los motivos de consulta en la emergencia de la mayoría de los hospitales. Muchos métodos de tratamiento son aceptados con buena evolución clínica pero con gran porcentaje de complicaciones. De ahí la inquietud en buscar el mejor método de tratamiento que ayude al paciente a su incorporación a la vida diaria. Se presenta la experiencia en el tratamiento de 25 pacientes que presentaron fracturas del tercio distal del radio desde enero de 2007 a noviembre de 2008; entre las edades comprendidas de 39 a 74 años distribuyéndose 17 mujeres y 8 hombres. Evaluando el tipo, mecanismo de producción de las fracturas y utilizando la clasificación de Fernández tratadas con placas de sostén y tornillos de cortical 3,5 técnica AO con un abordaje volar.
Assuntos
Humanos , Masculino , Adulto , Feminino , Pessoa de Meia-Idade , Fraturas do Rádio/diagnóstico , Fraturas do Rádio/terapia , Miopatias Distais/patologia , OrtopediaRESUMO
Apresentamos aqui um caso de tumor de células gigantes na extremidade distal do fêmur direito tratado com ressecção da massa tumoral em bloco com remoção aguda da extremidade proximal e distal e fixado com hastes longas em K atravessando o joelho, do fêmur à tíbia. Após a consolidação / união completa das extremidades, foi feita a remoção da haste em K, seguida pela corticotomia juntamente com a osteogênese da distração com o auxílio do anel fixador de Ilizarov. O comprimento foi alcançado com este processo. O resultado final foi muito bom neste caso. Revisamos as opções de tratamento para tumor maligno de células gigantes na extremidade distal do fêmur e as dificuldades de tratá-lo.
We present a case of malignant giant cell tumor of distal end of right femur treated with resection of the tumor mass en block with acute docking of proximal and distal end and fixed with long K-nail across knee from femur to tibia. After complete consolidation/ union of the ends, removal of K nail was done followed by corticotomy along with distraction osteogenesis with the help of Ilizarov ring fixator. The length was achieved with this process. The end result was very good in this case. We reviewed the treatment options for malignant giant cell tumor of femoral distal end and the challenges in its treatment.
Assuntos
Humanos , Masculino , Adulto , Articulação do Joelho/fisiopatologia , Articulação do Joelho , Células Gigantes/patologia , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/fisiopatologia , Osteogênese por Distração/métodos , Técnica de Ilizarov/reabilitação , Fêmur/fisiopatologia , Fêmur , Miopatias Distais/diagnósticoRESUMO
Nonaka myopathy (NM) or distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessively inherited neuromuscular disorder characterized by early adult-onset weakness of distal muscles, rimmed vacuoles in muscle biopsy, and mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. The authors describe a patient with typical clinical features of NM confirmed by GNE mutation. Mutation analysis of the GNE gene revealed that the patient was a compound heterozygous for V572L and C13S mutations.
Assuntos
Humanos , Biópsia , Miopatias Distais , Músculos , Doenças Musculares , Fosfotransferases , VacúolosRESUMO
Nonaka myopathy (NM) or distal myopathy with rimmed vacuoles was an autosomal recessive muscle disease with preferential involvement of the tibialis anterior and sparing quadriceps muscles in young adulthood. Patients with NM usually showed slightly elevated serum creatine kinase (CK) levels and characteristic rimmed vacuoles in muscle biopsy. Recently, the UDP-N-acetylglucosamine-2-epimerase/N-ace-tylmannosamine kinase (GNE) gene was identified as the identified as the causative gene for NM. Here we reported a NM patient carrying homozygous mutations (V572L) of the GNE gene. To the best of our knowledge, this was the first report of genetically confirmed NM in Korea and NM should be included in the differential diagnosis of slowly progressive weakness of distal legs.
Assuntos
Humanos , Biópsia , Creatina Quinase , Diagnóstico Diferencial , Miopatias Distais , Coreia (Geográfico) , Perna (Membro) , Doenças Musculares , Fosfotransferases , Músculo Quadríceps , VacúolosRESUMO
Recent genetic and immunohistochemical analyses have shown that Miyoshi myopathy (MM) is caused by a mutation in the DYSF gene, which induces dysfunction of dysferlin. The author described one patient showing characteristic MM phenotype with deficiency of dysferlin on immunohistochemistry. Direct DNA sequencing of whole exons of DYSF gene revealed one homozygous missense mutation (G1165C) on exon 12, which let to an amino acid substitution from the glutamic acid to glutamine at the 389 of the peptide sequence in this patient. This is the first reported case of MM confirmed by immunohistochemical and genetic analyses in Korea.
Assuntos
Adulto , Humanos , Masculino , Caveolinas/análise , Miopatias Distais/genética , Imuno-Histoquímica , Proteínas de Membrana/química , Proteínas Musculares/química , MutaçãoRESUMO
BACKGROUND: For the differential diagnosis between the various subtypes of muscular dystrophy, the analysis of the protein expression pattern from the biopsied skeletal muscle tissue is essential. Authors performed the immunohistochemical study (IHC) using sets of antibodies for the differentiation of subtypes of muscular dystrophy. METHODS: Antibodies against dystrophin C-terminal, dystrophin rod domain, dystrophin N-terminal, alpha-, beta-, gamma-sarcoglycans, laminin alpha2 chain, dysferlin, and beta-dystroglycan were used for the IHC study in 43 patients with muscular dystrophy. The reactivity against the specific antibodies was graded and the clinical findings were assessed. RESULTS: We found 15 cases of dystrophin deficiency and 7 cases of dysferlin deficiency. Those with dystrophin deficiency were clinically classified previously as follows, 11 cases with Duchenne's muscular dystrophy (DMD), two with congenital muscular dystrophy (CMD), one with Becker's muscular dystrophy (BMD), and a female patient with limb-girdle muscular dystrophy (LGMD). Those with dysferlin deficiency consisted of 4 cases with LGMD phenotype and 3 with distal myopathy. CONCLUSIONS: The results of our study confirm the dystrophin immunostain is essential for the identification of dystrophinopathies among the various subtypes of muscular dystrophy. Also, the identification of 7 cases with dysferlin deficiency suggests dysferlinopathy is the common cause of muscular dystrophy in Korea.
Assuntos
Feminino , Humanos , Anticorpos , Diagnóstico Diferencial , Miopatias Distais , Distroglicanas , Distrofina , Imuno-Histoquímica , Coreia (Geográfico) , Laminina , Músculo Esquelético , Distrofias Musculares , Distrofia Muscular do Cíngulo dos Membros , Distrofia Muscular de Duchenne , Fenótipo , SarcoglicanasRESUMO
Miyoshi myopathy is a rare distal myopathy of early adult onset and autosomal recessive inheritance. Weakness usually appears between 15 and 30 years of age starting from the posterior compartment of the legs. Serum creatine kinase (CK) level is characteristically elevated to 10- to 100-fold above the normal range. Muscle biopsy shows myopathic changes without vacuoles consistent with muscular dystrophy. It has not been reported in Korea as yet, so far as we know. We report a 23-year-old female who had the typical manifestations of Miyoshi myopathy with the brief review of literatures.
Assuntos
Adulto , Feminino , Humanos , Adulto Jovem , Biópsia , Creatina Quinase , Miopatias Distais , Coreia (Geográfico) , Perna (Membro) , Doenças Musculares , Distrofias Musculares , Valores de Referência , Vacúolos , TestamentosRESUMO
Miyoshi myopathy (MM) is a type of distal myopathy that is characterized by an early adult onset and a prominent involvement of the gastrocnemius muscles. Weakness usually appears between 15 and 30 years of age starting in the posterior compartment of the legs. Creatine kinase (CK) values are characteristically elevated to levels 10 to 100 fold above normal range. Here we report one patient who was diagnosed as MM. She developed a motor weakness in her early thirties. There was an early and predominant involvement of the gastrocnemius muscles. Creatine kinase activity was elevated 10 to 15 fold above normal range. Electromyography revealed fibrillations, positive sharp waves, and a myopathic pattern of motor unit potentials, particularly in the distal muscles of the lower limbs. Myopathic features without vacuoles were seen in the vastus lateralis muscle. This is the first case report of MM in Korea, which should be considered in the differential diagnosis of slowly progressive weakness of distal legs.
Assuntos
Adulto , Humanos , Creatina Quinase , Diagnóstico Diferencial , Miopatias Distais , Eletromiografia , Coreia (Geográfico) , Perna (Membro) , Extremidade Inferior , Músculos , Doenças Musculares , Músculo Quadríceps , Valores de Referência , VacúolosRESUMO
Miyoshi myopathy (MM) is a type of distal myopathy that is characterized by an early adult onset and a prominent involvement of the gastrocnemius muscles. Weakness usually appears between 15 and 30 years of age starting in the posterior compartment of the legs. Creatine kinase (CK) values are characteristically elevated to levels 10 to 100 fold above normal range. Here we report one patient who was diagnosed as MM. She developed a motor weakness in her early thirties. There was an early and predominant involvement of the gastrocnemius muscles. Creatine kinase activity was elevated 10 to 15 fold above normal range. Electromyography revealed fibrillations, positive sharp waves, and a myopathic pattern of motor unit potentials, particularly in the distal muscles of the lower limbs. Myopathic features without vacuoles were seen in the vastus lateralis muscle. This is the first case report of MM in Korea, which should be considered in the differential diagnosis of slowly progressive weakness of distal legs.
Assuntos
Adulto , Humanos , Creatina Quinase , Diagnóstico Diferencial , Miopatias Distais , Eletromiografia , Coreia (Geográfico) , Perna (Membro) , Extremidade Inferior , Músculos , Doenças Musculares , Músculo Quadríceps , Valores de Referência , VacúolosRESUMO
Distal myopathy with rimmed vacuoles is a rare muscle disease and, so far as we know, it has not been reported in Korea as yet. This disorder is known to be inherited as autosomal recessive trait and to have no specific treatment. Hereby, we report 3 patients of distal myopathy with rimmed vacuoles in a family. The clinical characteristics of these patients were slowly progressive symmetrical muscle weakness and wasting of all 4 extremities, worse in distal legs. The pretibial muscles were involved more markedly than the calf muscles. Serum muscle enzymes were increased. The prominent EMG findings were myopathic changes, but reduced recruitment was occasionally found in some distal muscles The muscle biopsies of right biceps brachii muscle were performed in two patients, which showed the characteristic rimmed vacuoles by light microscope. Membranous whorls and randomly oriented intracytoplasmic filaments were found by electron microscope. The severity of pathological abnormalities were related to the clinical status of the patient. One had been treated with steroid(prednisolone) for several years but with no improvement.