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One Percent (one + percent)
Selected AbstractsHuntington's disease phenocopies are clinically and genetically heterogeneousMOVEMENT DISORDERS, Issue 5 2008Edward J. Wild MRCP Abstract Huntington's disease (HD) classically presents with movement disorder, cognitive dysfunction and behavioral problems but is phenotypically variable. One percent of patients with HD-like symptoms lack the causative mutation and are considered HD phenocopies. Genetic diseases known to cause HD phenocopies include HD-like syndromes HDL1, HDL2, and HDL4 (SCA17). HD has phenotypic overlap with dentatorubral-pallidoluysian atrophy, the spinocerebellar ataxias and neuroferritinopathy. Identifying the genetic basis of HD phenocopies is important for diagnosis and may inform the search for HD genetic modifiers. We sought to identify neurogenetic diagnoses in the largest reported cohort of HD phenocopy patients. Two hundred eighty-five patients with syndromes consistent with HD, who were HD expansion-negative, were screened for mutations in PRNP, JPH3, TBP, DRPLA, SCA1, SCA2, SCA3, FTL and FRDA. Genetic diagnoses were made in 8 subjects: we identified 5 cases of HDL4, 1 of HDL1 and 1 of HDL2. One patient had Friedreich's ataxia. There were no cases of DRPLA, SCA1, SCA2, SCA3, or neuroferritinopathy. HD phenocopies are clinically and genetically diverse and a definitive genetic diagnosis is currently possible in only a minority of cases. When undertaken, it should be clinically directed and patients and clinicians should be prepared for the low probability of reaching a genetic diagnosis in this group of patients. © 2008 Movement Disorder Society [source] Swedish Women's Interest in Home Birth and In-Hospital Birth Center CareBIRTH, Issue 1 2003Ingegerd Hildingsson RN ABSTRACT:Background: In Sweden, few alternatives to a hospital birth are available, and little is known about consumer interest in alternative birth care. The aim of this study was to determine women's interest in home birth and in-hospital birth center care in Sweden, and to describe the characteristics of these women. Methods: All Swedish-speaking women booked for antenatal care during 3 weeks during 1 year were invited to participate in the study. Three questionnaires, completed after the first booking visit in early pregnancy, at 2 months, and 1 year after the birth, asked about the women's interest in two alternative birth options and a wide range of possible explanatory variables. Results: Consent to participate in the study was given by 3283 women (71% of all women eligible). The rates of response to the three questionnaires were 94, 88, and 88 percent, respectively. One percent of participants consistently expressed an interest in home birth on all three occasions, and 8 percent expressed an interest in birth center care. A regression analysis showed five factors that were associated with an interest in home birth: a wish to have the baby's siblings (OR 20.2; 95% CI 6.2,66.5) and a female friend (OR 15.2; 95% CI 6.2,37.4) present at the birth, not wanting pharmacological pain relief during labor and birth (OR 4.7; 95% CI 1.4,15.3), low level of education (OR 4.5; 95% CI 1.8,11.4), and dissatisfaction with medical aspects of intrapartum care (OR 3.6; 95% CI 1.4,9.2). An interest in birth center care was associated with experience of being in control during labor and birth (OR 8.3; 95% CI 3.2,21.6), not wanting pharmacological pain relief (OR 2.3; 95% CI 1.3,4.1), and a preference to have a known midwife at the birth (OR 2.2; 95% CI 1.6,2.9). Conclusion: If Swedish women were offered free choice of place of birth, the home birth rate would be 10 times higher, and the 20 largest hospitals would need to have a birth center. Women interested in alternative models of care view childbirth as a social and natural event, and their needs should be considered. (BIRTH 30:1 March 2003) [source] The effect of nonfarm income on investment in Bulgarian family farmingAGRICULTURAL ECONOMICS, Issue 2 2009Tom Hertz Bulgaria; Nonfarm income; Agricultural investment Abstract This article documents a relationship between nonfarm income (primarily earnings and pensions) and agricultural investment in Bulgaria, specifically, expenditures on working capital (variable inputs such as feed, seed, and herbicides) and investment in livestock. Among those with positive spending on farm inputs, the estimated elasticity of these expenditures with respect to nonfarm income is 0.14. Nonfarm income also has an effect on the number of households that purchase farm animals, with an estimated elasticity of 0.35. The use of nonfarm income for farm investment is consistent with the presence of credit constraints, as is the fact that less than one percent of farmers report outstanding debts for agricultural purposes. Yet many farm households take out large unsecured loans for other purposes, primarily to cover consumption expenditures, implying that credit is available, but that farmers prefer not to use borrowed funds to finance agricultural investment. This would suggest that increases in the availability of agricultural credit may have little effect on farm outcomes, whereas increases in nondebt-financed sources of liquidity, such as subsidies or transfers, may better stimulate investment. [source] Midurethral sling procedures for stress urinary incontinence in women over 80 years,,NEUROUROLOGY AND URODYNAMICS, Issue 7 2010Kobi Stav Abstract Aims To compare the safety and efficacy of midurethral sling surgery for management of urinary stress incontinence in women over 80 years versus younger women. Methods 1225 consecutive women with urodynamic stress incontinence had a synthetic midurethral sling (955 retropubic, 270 transobturator) at our institution between 1999 and 2007. Ninety one percent (n,=,1112) of the patients were interviewed via phone call with a structured questionnaire and were included in the analysis. The mean follow-up was 50,±,24 months (range 12,114). Comparison between elderly (,80 years, n,=,96) and younger patients (<80 years, n,=,1016) was performed. Results The overall subjective cure rate was 85% (elderly 81%, younger 85%, ,=,0.32). There was no significant difference in cure rate between retropubic and transobturator sling in the elderly group (82% vs. 79.3%, P,=,0.75). The bladder perforation rate was similar between the two groups (3%). The hospitalization time was significantly longer in the elderly (1.6,±,1.7 days vs. 0.7,±,1.1 days, P<0.001). However, major perioperative complications were uncommon (1%). Of the patients who had an isolated sling procedure, 37% of the elderly and 9% of the young patients failed their 1st trial of void (P,<,0.001). However, the long-term rate of voiding difficulty was similar between the two groups (elderly 8% vs. young 6%, P,=,0.21). The rate of de novo urge incontinence was similar between the two groups (7%). Conclusion Retropubic and transobturator slings in women older than 80 years are effective and safe but are associated with an increased risk of transient postoperative voiding difficulty. Neurourol. Urodynam. 29:1262,1266, 2010. © 2010 Wiley-Liss, Inc. [source] Rituximab (B-cell depleting antibody) associated lung injury (RALI): A pediatric case and systematic review of the literaturePEDIATRIC PULMONOLOGY, Issue 9 2009Martin Bitzan MD Abstract Introduction Pulmonary toxicity of delayed onset is a rare complication of B-lymphocyte depleting antibody therapy and has been almost exclusively reported in older patients with B-cell malignancies. Aims To describe a pediatric patient with rituximab-associated lung injury (RALI), to systematically analyze previous reports of pulmonary complications, and to summarize common clinico-pathological features, treatment, and outcome. Results A teenage boy with focal segmental glomerulosclerosis (FSGS) presented with progressive dyspnea, fever, hypoxemia and fatigue 18 days after the completion of a second course of rituximab infusions for calcineurin inhibitor-dependent nephrotic syndrome. Respiratory symptoms started while he received high-dose prednisone for persistent proteinuria. Bilateral, diffuse ground-glass infiltrates corresponded to the presence of inflammatory cells in the bronchioalveolar lavage fluid. Empiric antibiotic treatment including clarithromycin was given, but the microbiological work-up remained negative. Serum IgE, C3, and C4 concentrations were normal. He recovered within 3 weeks after onset. We systematically reviewed 23 reports describing 30 additional cases of rituximab-associated lung disease. Twenty eight patients had received rituximab for B-cell malignancies, one for graft-versus-host disease and one for immune thrombocytopenia. Median age was 64 years (interquartile range [IQR] 58,69 years). Seventy one percent received concomitant chemotherapy. Time to onset from the last rituximab dose was 14 days (IQR 11,22 days). Eleven of 31 patients required mechanical ventilation, and 9 died (29%). Ventilation was a significant predictor of fatal outcome (odds ratio 46.7; confidence interval 9.5,229.9). High dose glucocorticoid therapy did not improve survival or prevent severe lung disease or death. Conclusions With the expanding use of rituximab for novel indications, additional cases of RALI affecting younger age groups are expected to emerge. Mechanical ventilation predicts poor outcome. Glucocorticoids may not be protective. Pediatr Pulmonol. 2009; 44:922,934. © 2009 Wiley-Liss, Inc. [source] Male breast cancer: Progress, prognosis and future pathwaysASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY, Issue 1 2008Kathryn M FIELD Abstract Breast cancer is one of the most commonly treated malignancies worldwide, but is rare in males. Less than one percent of all breast cancers occur in men, and breast cancer comprises less than one percent of all male malignancies. Thus, clinical experience in managing this condition is limited. In contrast to female breast cancer, much remains unknown about breast cancer in males. While there are similarities between the two, emerging data suggest that there are perhaps more differences than previously thought. Nevertheless, much of how males with breast cancer are managed continues to be extrapolated from randomised trials performed in females, due to lack of data in the male population alone. Another poorly understood aspect is the psychological impact experienced by male patients when diagnosed with what is generally thought of as a female malignancy. This review will discuss the known epidemiology, demographics, risk factors and genetic predispositions surrounding the development of breast cancer in males; as well as current surgical and radiotherapeutic interventional techniques. Histological profiles and subtypes as well as hormone receptor and HER-2 receptor status are also discussed, with an overview of chemotherapy and hormonal strategies in both the adjuvant and metastatic settings. [source] Youden Index and Optimal Cut-Point Estimated from Observations Affected by a Lower Limit of DetectionBIOMETRICAL JOURNAL, Issue 3 2008Marcus D. Ruopp Abstract The receiver operating characteristic (ROC) curve is used to evaluate a biomarker's ability for classifying disease status. The Youden Index (J), the maximum potential effectiveness of a biomarker, is a common summary measure of the ROC curve. In biomarker development, levels may be unquantifiable below a limit of detection (LOD) and missing from the overall dataset. Disregarding these observations may negatively bias the ROC curve and thus J. Several correction methods have been suggested for mean estimation and testing; however, little has been written about the ROC curve or its summary measures. We adapt non-parametric (empirical) and semi-parametric (ROC-GLM [generalized linear model]) methods and propose parametric methods (maximum likelihood (ML)) to estimate J and the optimal cut-point (c *) for a biomarker affected by a LOD. We develop unbiased estimators of J and c * via ML for normally and gamma distributed biomarkers. Alpha level confidence intervals are proposed using delta and bootstrap methods for the ML, semi-parametric, and non-parametric approaches respectively. Simulation studies are conducted over a range of distributional scenarios and sample sizes evaluating estimators' bias, root-mean square error, and coverage probability; the average bias was less than one percent for ML and GLM methods across scenarios and decreases with increased sample size. An example using polychlorinated biphenyl levels to classify women with and without endometriosis illustrates the potential benefits of these methods. We address the limitations and usefulness of each method in order to give researchers guidance in constructing appropriate estimates of biomarkers' true discriminating capabilities. (© 2008 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim) [source] | ||||||||||