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排序方式: 共有465条查询结果,搜索用时 17 毫秒
91.
Ivana Dabaj MD Robert Y Carlier MD David Gómez‐Andrés MD PhD Osório Abath Neto MD PhD Enrico Bertini MD Adele D'amico MD PhD Fabiana Fattori PhD Yann PéRéon MD PhD Claudia Castiglioni MD Eliana Rodillo MD Michela Catteruccia MD júlio Brandão Guimarães MD PhD Acary Souza Bulle Oliveira MD PhD Umbertina Conti Reed MD PhD Lilia Mesrob PhD Doris Lechner PhD Anne Boland PhD Jean‐François Deleuze PhD Edoardo Malfatti MD Carsten Bonnemann MD Jocelyn Laporte PhD Norma Romero MD Adrien Felter MD Susana Quijano‐Roy MD PhD Cristiane Araújo Martins Moreno MD PhD Edmar Zanoteli MD PhD 《Muscle & nerve》2018,58(2):224-234
Introduction: MYH7 gene mutations are related to a heterogeneous group of skeletal and cardiac myopathies. Methods: We evaluated clinical and muscle MRI changes in patients with mutations in the rod domain of MYH7, including 1 with mosaicism and 3 with novel missense mutations. Results: Patients presented in childhood with a distal and axial phenotype. Biopsy findings were variable. Half of the cases displaying some type of core pathology, including minicores and eccentric cores. Most patients demonstrated internal bands of infiltration (“inverted‐collagen‐VI sign”) in multiple muscles, particularly the soleus, and prominent atrophy and fatty infiltration of the tongue and the paraspinal, gluteus minimus, sartorius, gracilis, tibialis anterior, and extensor digitorum longus muscles. Discussion: Muscle imaging findings in patients with axial involvement provide significant clues permitting the distinction between MYH7‐related myopathies and other axial myopathies such as those related to SEPN1 and LMNA genes. Muscle Nerve 58 : 224–234, 2018 相似文献
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Motor unit number index (MUNIX) in myopathic disorders: Clinical correlations and potential pitfalls
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Histological analysis of palatopharyngeal muscle from children with snoring and obstructive sleep apnea syndrome 总被引:1,自引:0,他引:1
Vuono IM Zanoteli E de Oliveira AS Fujita RR Pignatari SS Pizarro GU de Cássia Pradelle-Hallinan ML Moreira GA 《International journal of pediatric otorhinolaryngology》2007,71(2):283-290
Obstructive sleep apnea syndrome (OSAS) is an upper airway obstruction that occurs during the sleep. One of the suggested mechanisms involved in this process is a neuromuscular abnormality of the palatal muscles. Whether children with OSAS develop into OSAS adults, or children and adult OSAS are two distinct disorders occurring at different ages are questions to be answered. Here, we made the histological analysis of palatophryngeal muscle in 34 oral-breathing children of both genders, aged 5-12 years old, with hypertrophic tonsils and adenoids. According to the polysomnographic study the participants were divided into children without sleeping disorders (group I) and children with primary snoring (group II) or apnea (group III). The main histological findings were fiber size variability in 70% cases from groups II and III and in 71% from group I; perimysial connective tissue infiltration in 48% children from groups II and III and in 71% from group I; intracytoplasmatic mitochondrial proliferation in 63% cases from groups II and III and in 57% cases from group I. Muscle necrosis was only observed in one case, in association with subglandular inflammation. Others findings observed in all groups included fibers with internal architecture alteration, such as moth-eaten and lobulated fibers, type 2 fiber predominance, and small areas of fiber type grouping. The presence of similar histological findings in the palatopharyngeal muscle in children with primary snoring or apnea but also in children without sleeping disorders indicate that such changes could be a normal histological feature of this muscle rather than a neurogenic or myopathic pathology. 相似文献
97.
目的 研究镉相关翻译启动因子TIF3对多种细胞肿瘤相关基因表达的影响,探索镉的分子致癌机制。方法应用TIF3基因真核细胞稳定表达系统和Western blot检测技术,用各种单克隆抗体检测细胞肿瘤相关基因蛋白的表达情况。结果 相对于载体转染中国仓鼠卵巢(CHO)对照细胞,在4株具有高效稳定表达TIF3编码蛋白质的CHO细胞系中均有pan—ras癌基因蛋白异常表达,其编码蛋白(21kDa)含量均明显高于对照组;其余肿瘤相关基因蛋白如c—myc.c-jun,MDM2,ODC,P16,p53,Cyclin D1的表达蛋白在TIF3转基因细胞与对照细胞之间未见明显差别。结论 镉相关翻译启动因子TIF3是一种镉应答原癌基因,TIF3的超额表达可导致Ras癌基因蛋白异常表达,这可能是镉应答原癌基因TIF3的分子致癌机制。 相似文献
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Independent prognostic significance of a nuclear proliferation antigen in diffuse large cell lymphomas as determined by the monoclonal antibody Ki-67 总被引:12,自引:0,他引:12
Grogan TM; Lippman SM; Spier CM; Slymen DJ; Rybski JA; Rangel CS; Richter LC; Miller TP 《Blood》1988,71(4):1157-1160
To assess the prognostic significance of the growth fraction in diffuse large cell lymphoma (DLCL), we studied 105 DLCL patients with the monoclonal antibody Ki-67 applied to frozen tissue sections. Ki-67 detects a nuclear antigen associated with cell proliferation not found in resting cells. Ki-67 findings and other clinical prognostic factors were correlated with outcome using univariate and multivariate analyses in the proportional hazards model. High proliferative activity, defined as nuclear Ki-67 expression in greater than 60% of malignant cells (Ki- 67 greater than 60), was found to be a strong predictor of poor survival among these patients (P = .003, log-rank). The 19 patients with Ki-67 greater than 60% had a median survival of 8 months compared with a median survival of 39 months for the 86 patients with Ki-67 less than or equal to 60%. Examination of pretreatment clinical variables indicated the patient groups were similar with regard to age, sex, stage, B symptoms, tumor bulk, and lactate dehydrogenase (LDH). Both patient groups received comparable curative intent therapy and showed comparable complete response rate precluding treatment differences as modifying outcome. Multivariate analysis indicated Ki-67 is an independent predictor of survival (multivariate P = .006). Further statistical analysis using only B-cell DLCL patients treated with CHOP (63 patients) indicated that Ki-67 greater than 60 retained strong prediction of poor outcome (P = .002, log-rank) among this homogeneous group. We conclude that high proliferative activity (Ki-67 greater than 60) is an independent factor allowing laboratory prediction of probable poor outcome of DLCL. 相似文献
100.
Between January and March 1986, 117 wives of insulation workers exposed to asbestos were screened by means of chest radiography, pulmonary function testing, and a detailed questionnaire. The final study group included 93 women over 40 years of age. Eighteen of these (19.4%) demonstrated pleural changes consistent with asbestos exposure, including pleural plaque (88.9%), diaphragm plaque (27.8%), pleural calcification (16.6%), and diffuse pleural thickening (5.5%). In statistical correlation between the groups with normal and abnormal radiographs, the only factor that proved significant was the year of first exposure (the duration of the latent period). Finally, radiographs of the husbands were compared for 17 of the 18 wives with radiographic abnormalities. Fourteen of the husbands (82%) demonstrated more severe radiographic changes than their wives. 相似文献