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71.
Fragile X testing is a priority in the evaluation of autism spectrum disorders (ASD) cases because identification of the FMR1 mutation leads to new treatment options. This study is focused on determining the prevalence of the FMR1 gene mutation among ASD cases in Indonesia. DSM‐IV‐TR criteria were administered to diagnose ASD; symptom severity was classified using the Childhood Autism Rating Scale. Cytogenetic analysis, polymerase chain reaction, and Southern blot for FMR1 gene analysis were carried out to confirm the diagnosis of fragile X syndrome. The fragile X site and FMR1 full mutation allele were identified in 3 out of 65 (4.6%) and 4 out of 65 (6.15%) children aged 3–17 years (57 boys and 8 girls), respectively. The Fragile X laboratory workup is essential in the evaluation of patients with ASD. Molecular analysis is most accurate, while cytogenetic documentation of the fragile X site can also be useful if molecular testing is not available. 相似文献
72.
73.
Alexander A. Navarini MD PhD Marcel Stoeckle MD Susanne Navarini MD Erik Mossdorf MD Boniphace S. Jullu BVM MVM Rehema Mchomvu AMO Marco Mbata AMO Patience Kibatala MD Marcel Tanner PhD Christoph Hatz MD Peter Schmid‐Grendelmeier MD 《International journal of dermatology》2010,49(1):83-86
Papular pruritic eruption (PPE) is a frequent HIV‐comorbidity in tropical countries. Because of constant itching and social stigma, effective treatment is highly valued. In our HIV cohort in rural Tanzania with 12% prevalence of PPE, we have retrospectively analyzed responses to available treatments. Oral promethazine improved itching (P < 0.0058) and clinical scores (P < 0.032) significantly more than topical steroids. Disease activity did not correlate with CD4+ and CD8+ T cell counts and was independent of anti‐retroviral medication. Therefore, oral antihistamines are an effective first‐line treatment for PPE. 相似文献
74.
T. K. TI 《ANZ journal of surgery》1979,49(4):428-431
A 10-year experience in the diagnosis and treatment of 92 patients with inflammatory bowel diseases in Kuala Lumpur is described. Tuberculosis (34 cases) was the most common inflammatory bowel disease of surgical importance. The clinical presentation of tuberculous enteritis and Crohn's disease is similar, though tuberculosis is strongly suggested by associated pulmonary disease and radiological evidence of caecal involvement. The finding of 10 cases each of Crohn's disease and ulcerative colitis is in keeping with an increased awareness of these conditions in a developing urban society where facilities exist for thorough investigation of diarrhoeal diseases. Amoebiasis sometimes causes a granulomatous lesion simulating carcinoma. Diverticular disease of the colon as known in the West is of very rare occurrence. 相似文献
75.
目的观察血氨对癫痫患儿肝功能的影响,以及丙戊酸(VPA)诱发高氨血症的危险因素。方法将236例单用丙戊酸的癫痫患儿按血氨水平分为高血氨组(HG)40例、血氨异常组(AG)96例、对照组(CG)100例。用K-独立样本非参数检验方法考查血氨与患儿肝功能情况的相关性。通过Logistic回归分析年龄、性别、体重、日剂量、丙戊酸浓度对丙戊酸诱发高氨血症的危险。结果 HG组、AG组和CG组分别有25例(62.5%)、42例(43.8%)、43例(43.0%)患儿肝功能指标超出参考值范围,分别有5例(12.5%)、7例(7.3%)、2例(2.0%)患儿出现肝损伤。HG组的肝损伤患儿分布频率显著高于AG组和CG组(P<0.05)。Logistic回归结果显示,年龄(小)、日剂量(大)、丙戊酸浓度(高)是丙戊酸诱发高氨血症的危险因素。结论癫痫患儿在使用丙戊酸治疗时,应关注体内血氨浓度,在病情控制良好的情况下,及时调整用药剂量和血药浓度,避免高血氨的发生。 相似文献
76.
J. MILOSEVITS É. PÓCSIK B. SCHMIDT P. REMÉNYI Z. S. INTÖDI M. RÉTI Á. BÁTAI P. ILLÉS R. MIHALIK G. G. PETRÁNYI K. PÁLÓCZI 《Scandinavian journal of immunology》1995,42(4):493-500
Cord blood (CB) as a new source for bone marrow transplantation represents advantageous features concerning stem cell and leucocyte compartments and function. We attempted to get more information about the phenotypes and function of CB cells by investigating their cell surface markers and also the production of IL-2, IFN-γ and IL-6 by mitogen and alloantigen stimulation. The CB cells were characterized by a low proportion of CD3+ T cells, CD4+ T subpopulation, activated T cells and CD3+ CD16/CD56+ cytotoxic cells, suggesting reduced graft versus host potential. The significant increase of CD19/CD3 double positive cells and decrease of CD19/HLA-DR double positive mature B cells reflect that immature B cells exist in CB. In the functional studies, a 27- and 5-fold reduction was observed in the production of IFN-γ by CB cells stimulated with PHA and allogeneic cells, respectively. The production of IL-2 in PHA-stimulated CB cells also showed a 50% determination. Decrease in the production of these cytokines by CB cells is supported by the decline of the proportion of CD3+ T cells. However, an increase was observed in the production of IL-6 by CB cells stimulated with allogeneic cells as compared with the controls. These results suggest a difference in the functional activity of the T helper cell subsets between the CB and peripheral blood and/or differences in the functional maturity of T helper cell subsets and B cells in these compartments. 相似文献
77.
新型吸入麻醉剂七氟烷综述 总被引:2,自引:1,他引:1
七氟烷作为一种吸入麻醉剂已广泛用于临床。通过国内外研究综述,结合目前的合成研究、药理学进展、现有生产能力、产销状况,说明七氟烷是一种非常优良的新型吸入麻醉剂。 相似文献
78.
目的 探讨胸乳路径腔镜甲状腺手术对机体的创伤性。方法 将2009年1月至2010年12月收治的60例甲状腺良性肿瘤依据患者意愿分成腔镜手术组(A组=32例)及传统手术组(B组=28例),分别比较术后2h、1d和3d3个时点外周血白细胞介素-2( IL)-2、IL-6、C-反应蛋白(CRP)和肿瘤坏死因子-α(TNF-α)检测值。结果 腔镜组术后3个对应时点血清IL-2值[(12.6±2.1)、(11.8±1.9)、(11.8±3.0) ng/L]、CRP值[(1.6±0.7)、(2.4±0.9)、(2.5±0.9) mg/L]、TNF-α值[(53.2±6.8)、(49.1±5.5)、(46.5±5.0) ng/L]与传统组术后相对应3个时点血清IL-2值[(10.6±1.1)、(11.2±2.6)、(12.0±3.2) ng/L]、CRP值[(0.8±0.6)、(2.4±0.5)、(2.4±0.7) mg/L]、TNF-α值[(48.5±7.1)、(51.3±6.2)、(41.5±13.7)ng/L]组间差异无统计学意义(P值均>0.05);腔镜组术后3个对应时点血清IL-6值[(4.8±2.4)、(4.3±2.1)、(5.4±5.6)ng/L]与传统手术组术后相对应时段血清IL-6值[(6.4±2.4)、(7.1±4.1)、(4.9±0.8)ng/L]组间术后2h、1d差异有统计学意义(P<0.05)。结论 腔镜甲状腺手术对机体的创伤与传统甲状腺手术比较属相对微创,在不给机体带来更大创伤同时,可获得美容效果,是一种值得推广的术式。 相似文献
79.
提文萍 《中国实用护理杂志》2009,25(22):9-11
目的 探讨氧气面罩雾化给氧方式对重型颅脑损伤患者低氧血症的可行性及安全性,以促进患者早日康复.方法 将收治98例重型颅脑损伤患者随机分为观察组48例和对照组50例,在常规治疗的同时,观察组采用氧气面罩接雾化器给氧方式进行给氧;对照组采用鼻塞导管湿纱布覆盖口鼻进行给氧.结果 观察组其动脉血氧饱和度、氧分压明显提高.2组病死率比较差异明显,而2组患者的心率、血压、pH、PaCO2比较差异不明显.结论 氧气面罩雾化器给氧能快速、有效纠正重型颅脑损伤患者缺氧状态,纠正低氧血症. 相似文献
80.
Objective To investigate expression and significance of decorin(DCN)in liver tissue and serum of liver transplant patients with chronic rejection(CR).Methods Immunohistochemistry(SP method)was used to detect expression of DCN in liver tissue of 16 normal controls, 20 patients with cirrhosis, 46 liver translantion patients without CR and 8 patients with CR.Enzyme-linked immunosorbent assay method(ELISA method)was used to determined the content of DCN in serum of all research subjects.Results The expression of DCN was negative in normal hepatic tissues and with/without CR, cirrhosis tissues showed strong expression of DCN.The positive expression rate and the average optical density value of DCN in liver transplant tissues with CR had significant difference comparing with Cirrhosis tissues(25% vs 55%, 0.1249 ±0.0039 vs 0.2357 ±0.0396, P <0.01,while no statistic siqnificance compared to normal liver tissues and those without CR.The level of DCN in serum was significantly higher in liver transplant patients with CR, with significant difference comparing with normal people, liver cirrhosis and transplant liver patients without CR(54.0833 ± 6.0325)μg/L vs(1.0232 ± 0.9105)μg/L,(12.6202 ± 1.5370)μg/L,(17.7102 ± 2.3562)μg/L, P < 0.01).The concentration of DCN in serum showed a positive correlation with the degree of CR.Conclusions DCN showed negative expression in liver tissue and increased significantly in serum of liver transplantation patients with CR.This suggests that DCN may be involved in occurrence and development of CR.At the same time the determination of DCN in serum maybe become an important indicator of the early diagnosis, development and prognosis of CR for liver transplant patients. 相似文献