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61.
目的 探讨不同生长激素分泌状态下矮身材儿童血脂水平的差异,为生长激素缺乏对儿童体脂代谢的影响提供理论依据。方法 收集矮身材儿童188例,依据生长激素药物激发试验峰值分为生长激素完全缺乏(cGHD)组、生长激素部分缺乏(pGHD)组、非生长激素缺乏性(nGHD)组,研究对象均禁食禁水10 h后空腹测定总胆固醇(TC)、三酰甘油(TG)、低密度脂蛋白胆固醇(LDL)和高密度脂蛋白胆固醇(HDL)4项血脂水平。结果 3组儿童HDL水平比较差异无统计学意义(P>0.05);3组儿童TC、TG、LDL、non-HDL水平比较差异均有统计学意义(P<0.05);组间两两比较,cGHD组TC、LDL、non-HDL水平较其他组明显升高(P<0.05),cGHD组TG水平较nGHD明显升高(P<0.05),与pGHD组比较差异无统计学意义(P>0.05)。pGHD、nGHD组高TC、高LDL及高non-HDL的发生率明显低于cGHD组(P<0.05),nGHD组临界高LDL的发生率明显低于cGHD组(P<0.05)。而3组间TG、HDL的异常发生率及TC、TG... 相似文献
62.
Summary A neuromuscular disorder is reported in two brothers, aged 28 and 38 years, with glycogenosis type III. Both patients had proximal weakness, pseudohypertrophy of sternocleidomastoid. trapezius and quadriceps muscles, mild distal wasting and myopathic EMG changes. Pseudohypertrophy was more evident in the younger brother, whereas weakness was prominent in the older one. In the former, muscle biopsy revealed vacuolar myopathy and virtual absence of amylo-1,6-glucosidase enzyme. Few familial cases of debrancher deficiency neuromuscular disorder have been reported. Distal wasting has been considered a quite characteristic manifestation of the disease. It is also suggested that this particular kind of pseudohypertrophy may represent a distinctive feature of glycogenosis type III. 相似文献
63.
呼出气氢测定试验对飞行人员乳糖酶缺乏症的研究 总被引:1,自引:1,他引:0
对66名汉族飞行人员进行乳糖呼出气氢测定试验,乳糖吸收不良的发生率为83.3%,其中乳糖不耐受者占34.6%;与一般汉族人群无明显差别。对10名确定为中度以上乳糖吸收不良的飞行人员进行250ml鲜牛奶的试验结果,有50%呼出气氢含量在正常范围,并无一例出现胃肠道症状。提示较长期食用牛奶未能使乳糖酶缺乏状态发生改变,但每日食用适量牛奶属合理营养。 相似文献
64.
Bahram Dalir-Naghadeh Siamak Asri-Rezaei Naser Alidady 《Comparative clinical pathology》2006,15(3):149-153
Odds ratio was used to evaluate relationship between sepsis in cattle less than 1 year old and mastitis in cows and erythrocyte glutathione peroxides (GSH-PX) activity as an indicator of selenium status. Data were from 178 blood samples collected from referred cases to Urmia University, Veterinary Teaching Hospital. Low activity of GSH-PX was significantly associated with higher odds of developing sepsis (P=0.005) in young cattle and mastitis (P=0.044) in adult cows. The odds ratios for the low activity of GSH-PX on incidence of sepsis and mastitis were 4.74 and 3.95, respectively. Selenium deficiency was associated with sepsis in young cattle and mastitis in cows, i.e., cattle with low activity of erythrocyte GSH-PX were at increased risk of sepsis and mastitis. 相似文献
65.
This paper reports on the successful treatment by in-vitro fertilization (IVF) of a couple in whom the male partner had Kartagener's syndrome. His spermatozoa were severely asthenozoospermic with deficient dynein arms and disordered microtubular configuration. On computer-assisted sperm analysis (CASA) motile spermatozoa displayed straight non-progressive motility with minimal amplitude of lateral head displacement and none were hyperactivated. This is the first case report in which spermatozoa with axonemal disruption in a man with immotile cilia syndrome (ICS) have been shown to be able to penetrate the zona pellucida and fertilize oocytes. IVF may be a suitable treatment for certain variants of ICS. 相似文献
66.
目的 探讨新生儿C6PD缺陷病和晚发性维生素K缺乏症的危害与预防措施。方法 回顾分析1995-2000年儿内科住院的1周-2月(不含2月)的婴儿3104例次,其中病死56例。结果 1周-2月的小婴儿占住院患儿的19.34%,其中新生儿G6PD缺陷病239例,占7.70%;晚发性维生素K缺乏症92例,占2.96%。死因的第2、3位分别是晚发性维生素K缺乏症(13例,占23.21%)和新生儿C6PD缺陷病(12例,占21.43%),两者的病死率分别为14.13%和5.02%,极显著高于(x^2=17.59,P<0.01)或相近于(x^2=0.88,P>0.05)肺炎的3.57%。新生儿G6PD缺陷病合并感染占38.49%、低氧血症占23.35%、低血糖占19.25%、酸中毒占15.90%,继发胆红素脑病占13.81%。晚发性维生素K缺乏症出现抽搐占90.22%、胃肠、注射部位出血占60.89%;CT证实颅内出血占98.91%。结论 1周-2月的小婴儿约占住院患儿的两成,新生儿G6PD缺陷病和晚发性维生素K缺乏症的病死率均很高,两者是除肺炎外最主要的死因。提议制定并推广预防这2种疾病的常规措施,并参照国内外相应的现状拟出其具体内容。 相似文献
67.
68.
A fluorescent derivative of cerebroside sulfate (12-(1-pyrene)dodecanoyl-sphingosylgalactosyl-0-3-sulfate (P12-sulfatide) has been synthesized as a potential substrate for the determination of cerebroside sulfatidase (or arylsulfatase A) activity. It was administered into cultured human skin fibroblasts and thereby utilized for the diagnosis of arylsulfatase A deficiency. Cultured skin fibroblasts from normal individuals and healthy persons suffering from a pseudoarylsulfatase A deficiency (PD) degraded the P12-sulfatide, while in cells derived from a metachromatic leukodystrophy (MLD) patient it remained essentially intact. This contrasts with in vitro determinations of enzymatic activity, where the MLD or PD-derived arylsulfatase A exhibit similar deficiency, in spite of a profoundly different clinical course. Administration of the fluorescent sulfatide into the intact cells permitted a sensitive and rapid diagnosis of MLD and its distinction from the PD-phenomenon. This might be of particular importance for cases in which a rapid diagnosis is required and for prenatal diagnosis of fetuses from families afflicted with both MLD and pseudo-deficiency mutant genes. 相似文献
69.
Predicting pregnancy and spermatogenesis by survival analysis during gonadotrophin treatment of gonadotrophin-deficient infertile men 总被引:4,自引:0,他引:4
Liu PY Gebski VJ Turner L Conway AJ Wishart SM Handelsman DJ 《Human reproduction (Oxford, England)》2002,17(3):625-633
BACKGROUND: Predictors of fertility or spermatogenesis during gonadotrophin therapy of gonadotrophin-deficient men remain poorly defined. METHODS AND RESULTS: In order to evaluate potential predictors, this study evaluated 29 consecutive gonadotrophin-deficient men all desiring paternity who received 43 courses of therapy in one centre between 1982 and 1998. The Kaplan-Meier survival analysis estimates of median (SE) time to a sperm concentration of >0, >5 and >20 x 10(6)/ml were 5.5 (1.1), 12.4 (2.3) and 29.1 (1.9) months respectively. Conception occurred in 22/43 cycles (with eight men achieving two pregnancies) with a median (SE) Kaplan-Meier estimate of 20.5 (4.7) months. The median sperm concentration at conception was 5.0 (SE 2.0; range 0.0-59.5) x 10(6)/ml. Multivariate correlated Cox proportional hazards models predicting these same sperm thresholds and conception were developed by forward stepwise variable selection with verification of the model by backward stepping. Larger testicular volume, prior gonadotrophin therapy, completion of puberty, older age, the absence of adverse fertility factors and the absence of multiple pituitary hormone deficiency predicted a favourable response. Multivariate modelling suggests that the two most important predictors of sperm output are testicular volume and pubertal status. The most important potentially modifiable predictor was prior gonadotrophin therapy. The efficacy of recombinant and urinary FSH were similar. Prior androgen therapy and partner's age did not appear to be significant. CONCLUSIONS: Since prolonged treatment may be required to induce spermatogenesis, attention to these predictors may allow appropriate early use of advanced reproductive technologies. 相似文献
70.
P. Hafkemeyer M. Schupp M. Storch W. Gerok D. Hässinger 《Journal of molecular medicine (Berlin, Germany)》1994,72(2):134-136
We report on an otherwise healthy female, mother of two children, with severe decompensated liver cirrhosis due to an iron overload and Wilson's disease. The patient was considered heterozygote for hemochromatosis on the basis of the autosomal recessive inheritance for hemochromatosis, the frequency of the hemochromatosis gene, and the laboratory parameters defining her iron overload. The case is interesting because of the coincidence of Wilson's disease and excessive iron storage.
Correspondence to: D. Haussinger 相似文献