Association of WNT4 polymorphisms with endometriosis in infertile patients.

PURPOSE: Recently, several genome-wide association studies have demonstrated an association between endometriosis and markers located in or near to WNT4 gene. In order to assess the validity of the findings, we conducted a replication case-control study in a Brazilian population. METHODS: Genetic association study comprising 400 infertile women with endometriosis and 400 fertile women as controls. TaqMan allelic discrimination technique was used to investigate the relationship between endometriosis and four single-nucleotide polymorphisms (rs16826658, rs3820282, rs2235529, and rs7521902) in WNT4 gene. Genotype distribution, allele frequency, and haplotype analysis of the WNT4 polymorphisms were performed. A p value <0.05 was considered significant. RESULTS: The results revealed a significant association of rs16826658 (p = 7e-04) and rs3820282 (p = 0.048) single-nucleotide polymorphisms (SNPs) on WNT4 gene with endometriosis-related infertility, while rs2235529 and rs7521902 SNPs showed no difference between cases and controls. CONCLUSIONS: Our results suggested that rs16826658 and rs3820282 polymorphisms on WNT4 gene might be involved in the pathogenesis of endometriosis in the infertile women studied. Analysis of WNT4 genetic variants might help to identify patients at high risk for disease development.

Cardiopulmonary response following surgical repair of pectus excavatum in adult patients.

OBJECTIVE: Severe pectus excavatum are common in adult patients, often causing psychological complaints and physiological impairments. Although lung function at rest may minimally deteriorate after surgical correction, it remains unclear if surgery improves exercise capacity. The objective of present study is to assess whether the surgical repair of pectus excavatum in adults would improve exercise tolerance. METHODS: A prospective study was performed to compare pulmonary and cardiovascular function at rest and at maximal exercise, before, and at 1 year after pectus excavatum repair. RESULTS: From December 2005 to May 2009, 120 adult patients underwent pectus excavatum repair. Of these patients, 70 (nine women, 61 men) underwent thorough preoperative, 6-, and 12-month postoperative assessments, and were included in the present study. Age ranged from 18 to 62 years (mean 27 years). The pectus index (Haller index) was 4.5 ± 1.1. Lung function tests at rest were within the normal range, whereas maximal oxygen uptake (peak VO2) was only 77 ± 2% of the predicted value. At 1-year follow-up, the pectus excavatum repair was associated with minor changes in lung function tests and significant increase (p=0.0005) in VO2 (87 ± 2% of the predicted value). Postoperative O2 pulse increase at maximal exercise suggested that aerobic capacity improvement was the result of better cardiovascular adaptation at maximal workload. CONCLUSION: These results demonstrate sustained improvement in exercise cardiopulmonary function at 1-year follow-up of pectus excavatum surgical repair in adult patients.

Longitudinal changes in hyperinflation parameters and exercise capacity after giant bullous emphysema surgery.

OBJECTIVE: Although resection of giant bullae for the purpose of improving the function of underlying compressed lung is an accepted form of surgery for emphysema, there is only limited information regarding long-term improvement in dynamic hyperinflation and exercise tolerance. Our major goal was to investigate the effects of lung resection for giant bullae on pulmonary function, dynamic hyperinflation, and exercise capacity in patients with chronic obstructive pulmonary disease characterized by emphysema. METHODS: Pulmonary function and exercise testing were assessed prospectively before and 3, 6, 12, 24, and 48 months after surgery in 12 patients who had chronic obstructive pulmonary disease with emphysema who underwent lung resection of giant bullae. RESULTS: Forced expiratory volume, diffusing capacity for carbon monoxide, arterial partial pressure of oxygen, and exercise capacity were significantly increased after resection of surgical bullae. Dynamic hyperinflation, as assessed by reduction in inspiratory capacity and dyspnea Borg scale, were significantly decreased during exercise. Improvement in baseline and exercise functional capacity slightly decreased over time, remaining, however, far above the value before surgery. CONCLUSION: Altogether, these findings suggest that surgery for resection of giant bullae is an effective procedure for improving airflow, limiting gas exchange, and limiting exercise dynamic hyperinflation over time.