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91.
In a homeostasis model assessment-insulin resistance (HOMA-IR)-positive group of women with polycystic ovary syndrome undergoing in vitro maturation (IVM), the maturation rate of immature oocytes was significantly lower compared with a HOMA-IR negative group of women (47% vs. 59%). The results of our study showed that IR and hyperinsulinemia have an adverse effect on the developmental potential of immature oocytes retrieved in the IVM procedure.  相似文献   
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Inherited antithrombin (AT) deficiency is a rare autosomal dominant disorder, caused by mutations in the AT gene (SERPINC1). Considering that the genotype phenotype relationship in AT deficiency patients remains unclear, especially in pediatric patients, the aim of our study was to evaluate genotype phenotype correlation in a Serbian pediatric population. A retrospective cohort study included 19 children younger than 18 years, from 15 Serbian families, with newly diagnosed AT deficiency. In 21% of the recruited families, mutations affecting exon 4, 5, and 6 of the SERPINC1 gene that causes type I AT deficiency were detected. In the remaining families, the mutation in exon 2 causing type II HBS (AT Budapest 3) was found. Thrombosis events were observed in 1 (33%) of those with type I, 11 (85%) of those with AT Budapest 3 in the homozygous respectively, and 1(33%) in the heterozygous form. Recurrent thrombosis was observed only in AT Budapest 3 in the homozygous form, in 27% during initial treatment of the first thrombotic event. Abdominal venous thrombosis and arterial ischemic stroke, observed in almost half of the children from the group with AT Budapest 3 in the homozygous form, were unprovoked in all cases.

Conclusion: Type II HBS (AT Budapest 3) in the homozygous form is a strong risk factor for arterial and venous thrombosis in pediatric patients.

What is Known:

Inherited AT deficiency is a rare autosomal dominant disorder, caused by mutations in the SERPINC1gene.

The genotype phenotype correlation in AT deficiency patients remains unclear, especially in pediatric patients.

What is New:

The genetic results for our paediatric population predominantly showed the presence of a single specific mutation in exon 2, that causes type II HBS deficiency (AT Budapest 3).

In this group thrombosis mostly occurred as unprovoked, in almost half of them as abdominal thrombosis or stroke with high incidence of recurrent thrombosis, in 27% during initial treatment.

  相似文献   
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Objective: We evaluated differences in health-related quality of life (HRQoL) for African Americans and Caucasians with self-reported arthritis residing in rural and urban areas of a southern state. Methods: 1,191 individuals completed a telephone survey, which included the 12-Item Short Form Health Survey (SF-12). Participants were stratified into groups: African American/rural, Caucasian/rural, African American/urban, and Caucasian/urban. We evaluated differences and associations in HRQoL for the four groups.Results: Multivariable linear regression models revealed that being an African American rural resident was associated with worse self-reported mental health on the SF-12 even after adjusting for multiple confounding variables. In contrast, multivariable linear regression models revealed that being a Caucasian rural resident was associated with worse physical health SF-12 scores.Conclusions: The study revealed differences in HRQoL on the mental and physical health functioning scales of the SF-12 for African American rural and Caucasian rural residents. Researchers assessing HRQoL in arthritis patients should consider using a race/residence product term in their analyses.  相似文献   
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Generalized tendomyopathy (GTM), or fibromyalgia (FM), is a disease characterized by wide-spread pain in the musculoskeletal system which usually begins at a single site, e.g., as low-back pain or cervical syndrome, and develops into generalized pain over months or years. The disorder affects primarily women, beginning around the age of 35 and reaching its peak during or after the menopause. Its etiology is still unknown. Secondary forms are observed particularly in rheumatoid arthritis. In order to get more information on FM we determined the local metabolic rate of glucose in vivo in the skeletal muscle (lumbar region) with dynamic 18F-FDG positron emission tomography (PET). 2 healthy volunteers and 6 female patients with FM reaching in age from 31 to 53 years were scanned. As 18F-FDG PET scanning is a metabolic tool, it is crucial to observe standardized conditions of metabolic steady-state. We used, therefore, the hyperinsulinemic euglycemic insulin clamp technique to stimulate the myogenic glucose uptake under stable plasma-glucose levels. The local metabolic rates of glucose utilization were estimated with a non-linear least squares fit on the 3 compartment 18F-FDG-model. A lumped constant of 0.67 was assumed. Under glucose clamp conditions patients with FM showed a significantly (p < 0.001) lower metabolic rate of glucose (4.3 +/- 1.1) mumol/100 g tissue/min compared with normal volunteers (8.5 +/- 2.3 mumol/100 g/min). Due to a significantly (p < 0.005) increased glucose backflow from tissue into the vascular space (k2 in the kinetic model) the rate of phosphorylation was markedly reduced in patients with FM.(ABSTRACT TRUNCATED AT 250 WORDS)  相似文献   
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To determine whether a standardized dose of esmolol can effectively attenuate the cardiovascular response to electroconvulsive therapy (ECT), 17 ASA physical status I-II patients were studied in a randomized within-patient, crossover design. Each patient received "no esmolol" during one ECT and three to five days later crossed over to the alternative treatment receiving an esmolol 80 mg bolus followed by 24 mg.min-1 infusion two minutes prior to induction of anaesthesia and continued for five minutes after induction. Esmolol blunted the maximum increases in heart rate (HR) by 26 per cent, mean arterial pressure (MAP) by 14 per cent, and rate pressure product by 37 per cent with significant differences (P less than 0.05) noted at one, two, three and four minutes after ECT (minutes five, six, seven, and eight of the esmolol infusion). There was no significant difference in seizure duration between the two groups and no adverse reactions occurred.  相似文献   
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