Lynch syndrome (LS) is a hereditary condition that increases the risk for endometrial and other cancers. The identification of endometrial cancer (EC) patients with LS has the potential to influence ...life-saving interventions. We aimed to study the prevalence of LS among EC patients in our population.
Universal screening for LS was applied for a consecutive series EC. Tumor testing using microsatellite instability (MSI), immunohistochemistry (IHC) for mismatch-repair (MMR) protein expression and MLH1-methylation analysis, when required, was used to select LS-suspicious cases. Sequencing of corresponding MMR genes was performed.
One hundred and seventy-three EC (average age, 63 years) were screened. Sixty-one patients (35%) had abnormal IHC or MSI results. After MLH1 methylation analysis, 27 cases were considered suspicious of LS. From these, 22 were contacted and referred for genetic counseling. Nineteen pursued genetic testing and eight were diagnosed of LS. Mutations were more frequent in younger patients (<50 yrs). Three cases had either intact IHC or MSS and reinforce the need of implement the EC screening with both techniques.
The prevalence of LS among EC patients was 4.6% (8/173); with a predictive frequency of 6.6% in the Spanish population. Universal screening of EC for LS is recommended.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Aurora kinases (AURK) are key regulators of the mitotic spindle formation. AURK is frequently overexpressed in ovarian cancer and this overexpression has been frequently associated with prognosis in ...these tumours. Interestingly, AURK have been shown to interact with DNA repair mechanisms and other cell cycle regulators. These functions have brought light to Aurora family as a potential target for anticancer therapy. In the last years, two clinical trials with different AURK inhibitors have shown activity in epithelial and clear-cell ovarian cancer. Although there is a lack of predictive factors of AURK inhibition activity, recent trials have identified some candidates. This review will focus in the functions of the AURK family, its role as prognostic factor in epithelial ovarian cancer and potential clinical implications.
The purpose of this study was to compare the long-term safety, disease-free survival, and recurrence rate of total laparoscopic hysterectomy using uterine manipulator and abdominal hysterectomy in ...the surgical treatment in early-stage endometrial cancer.
This was a cohort study of 147 patients with clinical endometrial cancer (laparoscopic surgery group, 77 women; laparotomy group, 70 women). Data were evaluated and analyzed by intention-to-treat principle, and survival data of stage I endometrial cancer (129 patients; 66 from laparoscopic surgery group and 60 from laparotomy group) were estimated by using the Kaplan-Meier curves.
After a follow-up period of 60 months for both laparoscopic surgery and laparotomy groups, no significant difference in the cumulative recurrence rates (7.4% and 13.1%, P = 0.091) and overall survival (97.1% and 95.1%, P = 0.592) was detected between both groups of stage I endometrial cancer. Conversion to laparotomy occurred in 10.4% (8/77) of the laparoscopic procedures. Laparoscopic hysterectomy was associated with less use of pain medication (P = 0.001) and a shorter hospital stay (P < 0.001), but the procedure took longer than laparotomic hysterectomy (P < 0.001). The proportion of patients with intraoperative and long-term complications was not significantly different between both groups. The use of uterine manipulators did not have increased recurrence rate in patients treated with laparoscopic approach.
The laparoscopic surgery approach to early-stage endometrial cancer using uterine manipulators is as safe and effective as the laparotomic approach.
Abstract Objective To describe the diagnostic and therapeutic process for a congenital exceptional anomaly. To analyze the pathogenesis of the embryologic anomalies associated with menouria and ...congenital vesicovaginal fistula (VVF). Study design The case of a 28-year-old female with menouria and impossibility of consummating coitus is described. The diagnostic method is analyzed. The type of treatment is described and finally we conclude with a hypothesis about embryology of congenital anomalies with VVF and menouria. Results For management of anomalies as congenital VVF, imaging tests including cystography and urography could not correctly visualize the fistulous tract. It was identified by cystoscopy, performed during the time of menouria. Surgical treatment consisted in repairing the VVF and vaginoplasty according to the McIndoe technique. Conclusions All women with menouria need complete investigation with exhaustive exploration, analytic evaluation, ultrasound, imaging tests (principally magnetic resonance) and, very importantly, cystoscopy on the days of menouria. Surgical treatment must be careful and individualized. This case allows us to hypothesise that the blind vagina encountered reflects an anomaly of correct urogenital sinus development.
The current COVID-19 pandemic is causing profound health, economic, and social problems worldwide. The global shortage of medical and personal protective equipment (PPE) in specialized centers during ...the outbreak demonstrated the need for efficient methods to disinfect and recycle them in times of emergency. We have previously described that high ozone concentrations destroyed viral RNA in an inactivated SARS-CoV-2 strain within a few minutes. However, the efficient ozone dosages for active SARS-CoV-2 are still unknown. The present study aimed to evaluate the systematic effects of ozone exposure on face masks from hospitalized patients infected with SARS-CoV-2. Face masks from COVID-19 patients were collected and treated with a clinical ozone generator at high ozone concentrations in small volumes for short periods. The study focused on SARS-CoV-2 gene detection (assessed by real-time quantitative polymerase chain reaction (RT-qPCR)) and on the virus inactivation by in vitro studies. We assessed the effects of different high ozone concentrations and exposure times on decontamination efficiency. We showed that high ozone concentrations (10,000, 2,000, and 4,000 ppm) and short exposure times (10, 10, and 2 minutes, respectively), inactivated both the original strain and the B.1.1.7 strain of SARS-CoV-2 from 24 contaminated face masks from COVID-19 patients. The validation results showed that the best condition for SARS-CoV-2 inactivation was a treatment of 4,000 ppm of ozone for 2 minutes. Further studies are in progress to advance the potential applications of these findings.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Abstract
The role of polymorphism rs9939609 of the
FTO
gene has been related with fat mass and cardiovascular risk in adults, but it remains unclear in children and adolescents. Hence, the main aim ...of this study was to determine the
FTO
polymorphism effects on body composition, cardiorespiratory fitness (CRF), physical activity (PA), inflammatory markers, and cardiovascular risk both in cross‐sectional analysis and after two‐years of follow‐up in children and adolescents. A total of 2129 participants were included in this study. The rs9939609 polymorphism was genotyped. Body composition measurements, CRF, and moderate‐to‐vigorous PA (MVPA) were determined at baseline and after two‐year of follow‐up. Moreover, plasma leptin and adiponectin were also determined as inflammatory markers. Furthermore, an index of cardiovascular disease risk factors (CVDRF‐I) was calculated. Codominant (TT vs. TA vs. AA) and dominant (AA+AT vs. TT) models were applied for statistical analysis. The results showed a main effect of the
FTO
genotype on body composition measures in both first and third year (
p
< 0.05), with lower adiposity in TT compared with AA or AA+AT group. These differences were maintained after accounting for pubertal maturity, sex, age, VO
2
max, and MVPA. Moreover, lower leptin level was observed in TT compared to AA+AT group in the third year. An interaction in Gene*Time*Sex was found in height and neck circumference in dominant model (
p
= 0.047;
p
= 0.020, respectively). No differences were found in CRF, MVPA nor CVDRF‐I between groups. Hence, homozygous TT allele could be a protective factor against weight gain from early childhood.
To examine the longitudinal relationships between objectively measured total volume and specific intensities of physical activity (PA) with academic performance in a large sample of youth aged 6‐18 ...years. A longitudinal study of 1046 youth (10.04 ± 3.10 years) from Spain was followed over 2 years. PA (volume and intensity) was measured by accelerometry. Academic performance was assessed through grades reported on the transcript at the end of the academic year (Mathematics, Language, an average of these two core subjects, and grade point average GPA). Longitudinal relationships between PA and four indicators of academic performance were examined using covariance and regression analyses, adjusted for a variety of confounders. Youth Quartile 2 for PA volume at baseline obtained better scores than those who participated in Quartiles 1 or 4 volumes of PA in GPA 2 years later (p = 0.006). There were generally no longitudinal associations between specific PA intensities and any of the academic performance indicators (all p > 0.170). However, a change in light PA over 2 years was inversely associated with three academic indicators in youth (βrange, ‐.103 to ‐ 090; all P < 040). Findings suggest that participants in Quartile 2 volume of PA had a better GPA in comparison with Quartiles 1 and 4 volumes of PA during youth, but there was no association with changes in PA volume over time. PA intensity was generally unrelated to academic performance during youth. However, there was an inverted u‐shape relationship between light PA changes and GPA.
The aim was to examine the bidirectional association between cardiorespiratory fitness (CRF) and fatness in a 2‐year longitudinal study conducted in young people. A total of 1082 children (512 ...females) and 727 adolescents (342 females) with complete data at baseline and follow‐up were included. CRF was determined by the 20‐m shuttle run test. Height and weight were measured, and body mass index and fat mass index (kg/m2) were calculated. Triceps and subscapular skinfolds were assessed to compute body fat percentage. Bidirectionality was tested by including CRF and each fatness index as exposures and outcomes, alternatively, in different regression models. CRF was prospectively associated with fatness index levels (ß from −0.186 to −0.528; P < .001), remaining significant in children after adjusting for baseline fatness indices. Fatness indices were prospectively associated with CRF (ß from −0.207 to −0.479; P < .001), with no substantial changes observed in children and female adolescents when baseline CRF was considered. Changes in CRF were prospectively associated with several fatness indices, regardless of body fatness at baseline (ß from −0.062 to −0.220; P < .05). Body fatness changes were associated with future CRF levels, independently of baseline CRF, especially in children of both sexes and male adolescents (ß from −0.079 to −0.260; P < .05). Overall, a bidirectional association was observed between CRF and fatness in children and adolescents. The attainment of optimal CRF and fatness levels in early ages should be promoted since it could result in favorable future fatness and CRF levels, respectively, which are two key determinants of health status.
Trajectories of physical activity and sedentary time (SED) may differ between subgroups of youth. The aim of this study was to identify group‐based dual trajectories of physical activity and SED and ...explore individual, social, and environmental correlates of these trajectories. Longitudinal data (three time points, baseline 2011‐2012) of Spanish youth (n = 1597, mean age = 11.94 ± 2.52, 50.9% boys) were used. Moderate‐to‐vigorous physical activity (MVPA) and SED were assessed objectively at each time point, and 21 potential correlates were self‐reported at baseline. Parallel process growth mixture models identified shared categorical latent groups, adjusting for school and age. Multinomial logistic regression models identified baseline correlates of a given trajectory. Four shared categorical latent groups were identified: (1) stable MVPA and decreasing SED (4%); (2) stable MVPA and increasing SED (3%); (3) consistently higher MVPA (18%); and (4) stable low MVPA and slight increase in SED (75%). Multinomial logistic regression models with group 3 as reference found: negative affect (RRR = 0.90, 95% CI 0.84‐0.97), parental screen‐time rules (RRR = 1.15, 95% CI 1.00‐1.33), and household media equipment (RRR = 1.17, 95% CI 1.05‐1.30) predicted likelihood of group 1 membership; cons of reducing SED (RRR = 2.70, 95% CI 1.77‐4.10) predicted likelihood of group 2 membership; and co‐participation in physical activity with friends (RRR = 0.80, 95% CI 0.69‐0.94), fathers’ modeling of TV viewing (RRR = 1.22, 95% CI 1.02‐1.47), and household media equipment (RRR = 1.16, 95% CI 1.02‐1.31) predicted likelihood of group 4 membership. Results suggest that strategies to improve MVPA and SED behaviors among youth may need to be multifaceted, targeting all levels of influence.
No studies have analyzed the longitudinal associations of change in physical fitness components and obesity with academic performance. The aim of the study was to examine longitudinal associations of ...changes in physical fitness components and body mass index with academic performance among youth, and whether the physical fitness components are moderators of the longitudinal association between obesity and academic performance in youth. Longitudinal analyses (2 years) included 1802 youths. Physical fitness components were assessed following the ALPHA health‐related fitness test battery. Academic performance was assessed via school records. Youth in the persistently high cardiorespiratory fitness and motor ability categories (ie, fit at baseline and at 2‐year follow‐up) had higher academic performance at follow‐up than those in the persistently low category. Further, youth with normal weight at baseline and overweight/obesity at follow‐up had lower academic performance scores at follow‐up compared to those with normal weight. Also, cardiorespiratory fitness may ameliorate the negative influence of excess body mass index on academic performance at follow‐up. Promoting physical activity programs at school that include both aerobic exercise and motor tasks to improve physical fitness and reduce body mass index may not only improve physical health, but also contribute toward successful academic development.