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61.
目的:描述胚胎种植前遗传诊断在1例携带Ⅰ型白细胞黏附缺陷病(LAD-1)携带者并完成健康妊娠夫妇中的应用。设计:病例报道。机构:大学医院生殖中心。患者:1例男女双方都是LAD-1携带者的夫妇,女方CD18基因的外显子4携带有G400A置换,男方的外显子5携带有C562T置换。干预:标准体外受精(IVF)后第3天行卵裂期活检和分裂球遗传分析以检测2处突变以及21号染色体标记物。主要观察指标:1个未罹患LAD-1婴儿的出生。结果:得到15个卵母细胞,其中10个受精。8个胚胎适宜胚胎活组织检查。  相似文献   
62.
Using the SF-12 to measure physical and mental functioning, the authors examine the intra-individual changes in health-related quality of life (HRQOL) 6 months post-discharge for depressed older adults. In addition, they examine three sets of predictors that might influence these changes. The sample of depressed older adults was recruited from an inpatient geropsychiatry unit. Although their physical and mental health scores on the SF-12 were lower than comparable norms, the sample showed an average increase in their mental functioning but a decrease in the physical functioning over the 6 months. Negative life-events were significant predictors of people who reported no change in their mental health functioning and decreases in their physical health functioning. Interestingly, those who experienced positive life events were more likely to report declines and younger participants were more likely to report no change in their physical functioning. The findings indicate that the effects of depression on HRQOL can have enduring effects on a sample of previously hospitalized older adults. The significance of life event changes might signify the importance of taking into account non-traditional areas of medical interventions. Further, the findings indicate the usefulness of the SF-12 quantifying HRQOL outcomes.  相似文献   
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Burkitt’s lymphoma is a high-grade, rapidly growing B-cell neoplasm. It is recognized by its aggressive course, brief median survival, and low rates of long-term survival. The authors discuss the case of a patient who acutely presented with intraabdominal complications from a new onset of Burkitt’s lymphoma. The clinical and pathological features, staging, treatment options, and survival data are reviewed. In addition, the role of surgical intervention is carefully analyzed.  相似文献   
67.
Glutathione-S-transferase (GST) genes encode a family of detoxification enzymes that offer protection against endogenous and exogenous sources of reactive oxygen species (ROS). Germline variations in GST genes may alter the catalytic efficiency of GST isoenzymes leading to a potential increase in susceptibility to the genotoxic effects of ROS and electrophilic substances. A nested case-control study design was used to examine the association between the polymorphic GST genes and prostate cancer risk among Finnish male smokers of the ATBC Cancer Prevention Study. A case-case analysis was used to determine the association between these genetic polymorphisms and prostate cancer progression. Germline DNA was obtained from 206 prostate cancer cases and 194 controls frequency matched on age, intervention group and study clinic. Cases and controls were genotyped for three GST genes using MALDI-TOF mass spectrometry or multiplex polymerase chain reaction (PCR). Relative to the wild-type genotype, we observed a 36% reduction in prostate cancer risk associated with the GST-M1-null genotype (odds ratio (OR) 0.64, 95% confidence interval (CI) 0.43, 0.95). Unlike GST-M1, GST-T1-null (OR 0.74, 95% CI 0.42, 1.33) and GST-P1*B (OR 1.10, 95% CI 0.72, 1.69) were not strongly associated with prostate cancer risk. We did not observe any significant associations between the selected polymorphic GST genes and tumour grade or stage. In conclusion, we did not observe a direct association between polymorphic GST-T1 or GST-P1 and prostate cancer risk. Our observation of a relatively strong inverse association between the GST-M1-null genotype and prostate cancer risk needs to be confirmed in larger association studies.  相似文献   
68.
Levels of the soluble form of the triggering receptor expressed on myeloid cells (sTREM)-1 are elevated in severe sepsis. However, it is not known whether sTREM-1 measurements can distinguish milder bacterial infections from noninfectious inflammation. The present authors studied whether serum sTREM-1 levels differ in community-acquired pneumonia, exacerbations of chronic obstructive pulmonary disease (COPD), asthma and controls, and whether sTREM-1 may be used as a surrogate marker for the need for antibiotics. Serum sTREM-1 levels in 150 patients with pneumonia, COPD and asthma exacerbations and 62 healthy controls were measured. Serum sTREM-1 levels were significantly elevated in pneumonia (median 295.2 ng x mL(-1)), COPD (280.3 ng x mL(-1)) and asthma exacerbations (184.0 ng x mL(-1)) compared with controls (83.1 ng x mL(-1)). Levels were higher in pneumonia and Anthonisen type 1 COPD exacerbations than in type 2 and 3 COPD and asthma exacerbations. The area under the receiver operating characteristics curve for sTREM-1 as a surrogate marker for the need for antibiotics was 0.77. Serum levels of the soluble form of the triggering receptor expressed on myeloid cells-1 were elevated predominantly in pneumonia and Anthonisen type 1 COPD exacerbations versus type 2 and 3 chronic obstructive pulmonary disease exacerbations, asthma and controls. Serum levels of the soluble form of the triggering receptor expressed on myeloid cells-1 has moderate but insufficient accuracy as a surrogate marker for the need for antibiotics in lower respiratory tract infections.  相似文献   
69.
There is some evidence suggesting that Parkinson's disease (PD) patients exhibit lower body weight when compared to age-matched healthy subjects. Low body mass index (BMI) is correlated with low bone mineral density, both of which are major risk factors for hip fractures. Possible determinants of weight loss in PD patients include hyposmia, impaired hand-mouth coordination, difficulty chewing, dysphagia, intestinal hypomotility, depression, decreased reward processing of dopaminergic mesolimbic regions, nausea, and anorexia as the side effects of medication, and increased energy requirements due to muscular rigidity and involuntary movements. It is unclear whether PD patients in general, or only a subgroup of those affected, definitely show lower BMI in the advanced stages of the disease. We therefore recommend that the body weight of PD patients be monitored monthly as the disease progresses, and that a patient's nutrition should be supplemented with sufficient amounts of vitamin D and calcium to reduce the risk of hip fractures and strengthen bone density. Because meal times may coincide with unpredictable off periods associated with akinesia and impaired hand-mouth coordination, PD patients also need flexible food schedules that accommodate the associated symptoms of this disease.  相似文献   
70.
BACKGROUND: Many mild-to-moderately obese individuals (body mass index [BMI] 30-35 kg/m(2)) have serious diseases related to their obesity. Nonoperative therapy is ineffective in the long term, yet surgery has never been made widely available to this population. METHODS: Between 1996 and 2004, 93 patients with a BMI of 30-35 kg/m(2) underwent laparoscopic adjustable gastric banding with the LAP-BAND. All patients were referred by their primary physician, entered into a comprehensive bariatric surgery program at one Australian center, and operated on by one surgeon. Data on all patients were collected prospectively and entered into an electronic registry. The study parameters included preoperative age, gender, BMI, presence of co-morbidities, percentage of excess weight loss, and resolution of co-morbidities. RESULTS: The mean age was 44.6 years (range 16-76), mean weight was 98 kg, and the mean BMI was 32.7 kg/m(2) (range 30-34). Of the 93 patients, 42 (45%) had co-morbidities, including asthma, diabetes, hypertension, and sleep apnea. The proportion of patients in follow-up was 79%, 85%, and 89% at 1, 2, and 3 years, respectively. The mean weight was reduced to 71 kg at 1 year, 72 kg at 2 years, and 72 kg at 3 years. The mean BMI was reduced to 27.2 +/- 2.2, 27.3 +/- 3.1, and 27.6 +/- 3.7 kg/m(2), respectively, and the mean percentage of excess weight loss was 57.9% +/- 24.5%, 57.6 +/- 29.3%, and 53.8% +/- 32.8% at 1, 2, and 3 years, respectively. At 3 years, the BMI was 18-24 kg/m(2) in 34%, 25-29 kg/m(2) in 51%, and 30-35 kg/m(2) in 10%. At 3 years, the percentage of excess weight loss was <25% in 10%, 25-50% in 24%, 50-75% in 51%, and >75% in 10%. The co-morbidities improved or completely resolved in most patients. No mortality occurred. CONCLUSION: We are very encouraged by this series of low BMI patients treated with the LAP-BAND. Their weight loss has been good, the complications have been minimal, and the co-morbidities have partially or wholly resolved. With additional study, it is reasonable to expect the weight guidelines for bariatric surgery to be altered to include patients with a BMI of 30-35 kg/m(2).  相似文献   
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