Does vaginal surgery for correction of pelvic organ prolapse improve urinary function? A prospective cohort study.

INTRODUCTION AND HYPOTHESIS: Pelvic organ prolapse (POP) is caused by an imbalance in the stability of the pelvic organs, resulting in loss of support. The most common types of POP, anterior and apical, are associated with lower urinary tract symptoms (LUTS) such as bladder outlet obstruction and detrusor overactivity (DO). Vaginal surgery may improve LUTS and overall urinary symptoms. We assessed urodynamic (UD) parameters and urinary symptoms before and after vaginal surgery for POP correction. METHODS: A prospective cohort of 59 women with symptomatic anterior and/or apical POP associated with urinary symptoms and with indications for vaginal surgery were included. POP surgeries included anterior colporrhaphy and vaginal hysterectomy with culdoplasty (VH) and with/without concomitant posterior colporrhaphy and mid-urethral sling (MUS). All participants underwent UD evaluation and answered urinary symptom questionnaires pre- and 3 months post-surgery. RESULTS: Anterior colporrhaphy was performed in all patients: 45.7% with associated VH and 54.2% with concomitant MUS. Preoperative ICIQ-OAB score >8 points was significantly associated with DO (p<0.02) and decreased after surgery (9±4.3 to 3.2±3.0, p<0.001). All other questionnaires demonstrated improvements in urinary symptoms. Stress urinary incontinence rate decreased from 59.6% to 21% (p<0.001). Post-void residual (PVR) volume and Valsalva maneuver also decreased (p<0.001). CONCLUSIONS: Pelvic organ prolapse surgery reduced the prevalence of urgency symptoms, and all questionnaires on urinary symptoms showed clinically significant improvement. Vaginal surgery for POP, even combined with MUS, significantly reduced PVR volume and improved urgency symptoms.

Effects of Low Luteinizing Hormone Serum Levels on Oocyte Retrieval, Fertilization Rate, and Embryo Quality during Controlled Ovarian Stimulation: Results from a Prospective Cohort Analysis.

OBJECTIVES: Luteinizing hormone (LH) plays a key role in normal follicular development and oocyte maturation in controlled ovarian stimulation. LH stimulates the proliferation and differentiation of theca cells for the secretion of androgens, synergistically increasing estrogen production. This study aimed to investigate the effects of low LH concentrations on oocyte retrieval, fertilization, and embryo development in patients undergoing in vitro fertilization/intracytoplasmic sperm injection. DESIGN: We prospectively (ClinicalTrials ID: NCT05755529) analyzed patients undergoing in vitro fertilization/intracytoplasmic sperm injection, subdividing them into three groups according to their age. Serum LH levels were evaluated on day 3, during stimulation (day 10) and before ovulation induction (day 12). PARTICIPANTS/MATERIALS, SETTING, METHODS: Forty-three consecutive women were scheduled for IVF and received ovarian stimulation with follitropin alfa (Gonal F, Merck Serono, Germany) and ganirelix (Fyremaldel, Sun Pharma, Italy). Statistical analysis was performed with InStat 3.10, GraphPad software, San Diego, CA, USA. Normal distribution was tested by the Shapiro-Wilk test. Continuous variables were expressed as the mean and standard deviation. Categorical variables are expressed as frequencies and percentages. RESULTS: Our data analysis suggests that serum LH levels progressively decrease during controlled ovarian stimulation, and this effect is more evident in the early phase of this procedure. From this perspective, circulating LH levels may significantly decrease during the late follicular phase due to the negative feedback of ovarian hormones from multiple follicular developments or after the suppressive effects of gonadotropin-releasing hormone antagonists. LIMITATIONS: Although our study confirms that exogenous LH can be considered a strategy in women with reduced LH levels during ovarian stimulation to improve oocyte quality and reproductive outcome, the generalizability of the results is limited by the low number of participants enrolled. CONCLUSIONS: Exogenous LH may be considered a strategy in women with a decrease in LH levels during ovarian stimulation to improve oocyte quality and reproductive outcome.

Outcomes of ablative therapy and radical treatment for prostate cancer: a systematic review and meta-analysis.

PURPOSE: To compare biochemical recurrence, sexual potency and urinary continence outcomes of ablative therapy and radical treatment (radical prostatectomy or radiotherapy with androgen deprivation therapy). MATERIAL AND METHODS: A systematic review and meta-analysis followed the PRISMA guidelines were performed. We searched MEDLINE/PubMed. Biochemical recurrence at three and five years; incontinence rate (patients who used one pad or more) and erectile dysfunction rate at 12 and 36 months (patients who did not have sufficient erection to achieve sexual intercourse) were evaluated. The Mantel-Haenszel method was applied to estimate the pooled risk difference (RD) in the individual studies for categorical variables. All results were presented as 95% confidence intervals (95%CI). Random effects models were used regardless of the level of heterogeneity (I²). (PROSPERO CRD42022296998). RESULTS: Eight studies comprising 2,677 men with prostate cancer were included. There was no difference in biochemical recurrence between ablative and radical treatments. We observed the same biochemical recurrence between ablative therapy and radical treatment within five years (19.3% vs. 16.8%, respectively; RD 0.07; 95%CI=-0.05, 0.19; I2=68.2%; P=0.08) and continence rate at 12 months (9.2% vs. 31.8%, respectively; RD -0.13; 95%CI, -0.27, 0.01; I2=89%; P=0.32). When focal treatment was analyzed alone, two studies with 582 patients found higher erectile function at 12 months in the ablative therapy group than in the radical treatment (88.9% vs. 30.8%, respectively; RD -0.45; 95%CI -0.84, -0.05; I2=93%; P=0.03). CONCLUSION: Biochemical recurrence and urinary continence outcomes of ablative therapy and radical treatment were similar. Ablative therapy appears to have a high rate of sexual potency.

Cornual Pregnancy: Results of a Single-Center Retrospective Experience and Systematic Review on Reproductive Outcomes.

Background and Objectives: Cornual pregnancies (CPs) are rare forms of ectopic pregnancy. When abortion does not occur, it can be a life-threatening condition for the mother and can also impair future fertility. We present our experience in the diagnosis and management of CPs. A systematic review was also conducted to investigate the reproductive outcomes after treatment. Materials and Methods: Between January 2010 and December 2022, we performed a retrospective, cross-sectional, single-center, and descriptive data collection and analysis (ClinicalTrial ID: NCT06165770). The search for suitable articles published in English was carried out using the following databases (PROSPERO ID: CRD42023484909): MEDLINE, EMBASE, Global Health, The Cochrane Library (Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, and Cochrane Methodology Register), Health Technology Assessment Database, Web of Science, and search register such as ClinicalTrial. Only studies describing the impact of CP treatment on fertility were selected. Results: Two studies were included in the systematic review. Seventeen patients suffering from CPs were selected. In our series, a pelvic ultrasound allowed for the diagnosis of a cornual localization in 35.30% of cases. Thirteen women (76.47%) underwent immediate surgical management. The laparoscopic approach was the most used (76.92%), with a laparotomic conversion rate of 30%. Four patients (23.52%) received medical treatment with methotrexate. After treatment, two patients managed to achieve pregnancy. Conclusions: CP is a rare form of ectopic pregnancy that can quickly become life-threatening for the mother. Ultrasound does not lead to a precise diagnosis in all cases. In the absence of complications and emergencies, laparoscopy is an approach that could be considered valid. For selected asymptomatic patients, medical treatment may be a valid alternative. The data from the studies included in the systematic review, although demonstrating a superiority of medical treatment in terms of future pregnancies, are heterogeneous and do not allow us to reach a definitive conclusion.

Urodynamic profile of voiding in patients with pelvic organ prolapse after surgery: a systematic review with meta-analysis.

INTRODUCTION AND HYPOTHESIS: Pelvic organ prolapse (POP) is a defect of the female pelvic floor. Stress urinary incontinence (SUI), urge urinary incontinence (UUI), and obstructive symptoms may occur in these patients. The objective of surgical treatment is to restore the anatomy and function of the pelvic floor; however, it may prompt urinary symptoms not present previously. We performed a systematic review and meta-analysis to determine urodynamic changes in patients undergoing surgical correction for POP. METHODS: PubMed and Cochrane databases were searched for studies that contained data from urodynamic evaluation before and after vaginal surgery for POP. The main urodynamic data collected were free uroflowmetry (maximum flow [Qmax], voided volume, and post-void residual volume [PVR]), cystometry (bladder capacity, presence of detrusor overactivity [DO], SUI or UUI, and Valsalva leak point pressure), and pressure × flow study (detrusor pressure at maximum flow [PdetQmax], Qmax, and PVR). RESULTS: A total of 22 studies were included (1,549 women). Patients had a significantly higher prevalence of DO before surgery (OR = 1.56; 95% CI = 1.06-2.29), and surgeries without sling placement demonstrated a tendency to ameliorate DO. Patients who did not receive a sling were more incontinent after surgery. Bladder-emptying parameters improved after surgery, with higher PdetQmax before surgery (IV = 3.23; 95% CI = 0.45-1.18). Patients who did not receive MUS presented a lower Qmax (IV = -3.19; 95%CI = -4.09 to -2.30) and a higher PVR (IV = 27.89; 95%CI = 15.68-40.1) before surgery. CONCLUSION: Correction surgery for POP yields better urodynamic emptying parameters, with a reduction in the prevalence of DO. In contrast, sling placement enhances obstructive parameters.

Impact of COVID-19 pandemic on prostate cancer outcomes at an uro-oncology referral center.

INTRODUCTION: To evaluate the possible effects of the coronavirus disease 2019 (COVID-19) pandemic on the oncologic results of patients with prostate cancer regarding clinical staging, presence of adverse pathological outcomes, and perioperative complications. MATERIALS AND METHODS: This retrospective study included patients who underwent radical prostatectomy. The time between biopsy and surgery, staging tests, final histopathological evaluation after surgery, lymphadenectomy rate, postoperative complications, and prostatic specific antigen (PSA) levels (initial and 30 days after surgery) were analyzed and compared in a group of patients before and during the pandemic period. RESULTS: We included 226 patients: 88 in the pre-pandemic period and 138 during the pandemic period. There was no statistically significant difference in mean age, body mass index, ASA, pathological locally advanced disease, the proportion of patients who underwent lymphadenectomy, and ISUP grade in the biopsy between the groups. Positive surgical margins, prostatic extracapsular extension, and PSA levels at 30 days were also similar between the groups. The mean time between medical consultation and surgery was longer in the pandemic period than in the pre-pandemic (124 vs. 107 days, p<0.001), and the mean time between biopsy and medical consultation (69.5 days vs. 114 days, p<0.001) and between biopsy and surgery (198.5 days vs. 228 days, p=0.013) was shorter during the pandemic. The incidence of severe early and late perioperative complications was similar between the periods. CONCLUSIONS: There was no delay between diagnosis and treatment at our institution during the COVID-19 pandemic period. No worsening of the prostate cancer features was observed.

Oral health-related quality of life in patients aged 8 to 19 years with cleft lip and palate: a systematic review and meta-analysis.

BACKGROUND: Cleft lip and palate (CLP) is the most common facial birth defect worldwide and causes morphological, aesthetic, and functional problems with psychosocial implications for an individual's life and well-being. The present systematic review and meta-analysis assessed whether the treatment of CLP impacts the oral health-related quality of life (OHRQoL) in children and adolescents in comparison to healthy controls. METHODS: We searched MEDLINE/PubMed, EMBASE, and PsycINFO databases using terms related to CLP, and included articles until August 2023. Observational comparison studies that assessed OHRQoL in non-syndromic CLP patients aged 8-19 years with validated scales designed to such aim or scales capable to identify aspects related to oral health compared to healthy controls were included. We used the ROBINS-I tool for risk of bias assessment. A meta-analysis of continuous variables was performed using inverse variance for pooling estimates, Standardized Mean Difference (SMD) as a summary measure, with random effects model. Heterogeneity was estimated by the I2 statistics. Sensitivity analyses included subgrouping based on the scale, risk of bias and scale domains. Meta-regression was performed under a mixed-effects model considering the variables type of scale, scale domains and risk of bias. RESULTS: Fourteen studies were included comprising 1,185 patients with CLP and 1,558 healthy controls. The direction of the effect of OHRQoL favoured the healthy group (-0.92; 95% CI:-1,55;-0,10) and I2 = 95%. After removing three studies, I2 dropped to 80%. Meta-regression showed no influence on risk of bias (p = 0.2240) but influence of scale type (p = 0.0375) and scale domains (p < 0.001). The subgroup analysis indicated that the CPQ and COHIP scales presented very discrepant SMD values, despite pointing to the same effect direction. In contrast, the OHIP scale showed a non-significant difference between cases and controls, with estimates much lower than the other two scales. Results also suggest that OHRQoL associated with oral functionality and social well-being is more influential on outcomes than emotional well-being. CONCLUSION: The global OHRQoL is slightly worst in the CLP patients than control group. The difference between OHRQoL was mainly detected through OHIP. The most affected domains are functional, emotional and social. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD42022336956.

Knowledge, attitudes, and practices of active surveillance in prostate cancer among urologists: a real-life survey from Brazil.

BACKGROUND: Active surveillance (AS) is the preferred treatment for patients with very low-and low-risk prostate cancer (PCa), but it is underperformed worldwide. This study aimed to report knowledge, attitudes, and practices (KAP) of AS for PCa among urologists in Brazil. METHODS: This cross-sectional study used a questionnaire with 50 questions divided into participant characteristics, knowledge regarding inclusion criteria for AS, follow-up, intervention triggers, acceptance, and practice for an index patient. Data analysis comprises absolute and relative frequencies of the variables. After that, a logistic regression was performed in order to verify possible patterns of answers provided by the respondents in the index patient questionnaire. RESULTS: Questionnaires were sent through the SurveyMonkey® platform to 5,015 urologists using email addresses and through social media. A total of 600 (12%) questionnaires returned and 413 (8.2%) were completed and included in the analysis. Only 53% of urologists adopt AS for low- and very-low-risk PCa. Inclusion criteria were patients with age > 50 years (32.2%), prostate specific antigen (PSA) < 10 ng/mL (87.2%), T1 clinical stage (80.4%), Biopsy Gleason score ≤ 6, positive cores ≤ 2 (44.3%), positive core involvement < 50% (45.3%), and magnetic resonance imaging findings (38.7%). The PSA doubling time was still used by 60.3%. Confirmatory biopsy (55.9%), PSA level (36.6%), and digital rectal examination (34.4%) were considered by most urologists for follow-ups. Patient preference (85.7%), upgrade of Gleason score (73.4%), and increased number of positive cores (66.8%) were associated with conversion to definitive treatment. In an index patient, non-acceptance and active treatment request were the most cited reasons for not performing AS. CONCLUSION: There is significant variability in the KAP of AS in Brazil, which indicates the need to reinforce AS, its inclusion and follow-up criteria, and the benefits for physicians and the general population. TRIAL REGISTRATION: Not applicable.

Oxidative homeostasis in follicular fluid and reproductive outcomes - from bench to bedside.

Free radicals and oxidant molecules are part of our organism in a stable balance. However, when addressing female infertility, questions about their role in oocyte quality arise. This review outlines the major alterations of redox homeostasis in the follicular fluid through pathophysiological conditions in female reproduction and its potential effect on IVF outcome. A review of the literature was accurately performed. Manuscripts investigating follicular fluid biomarkers, especially related to oxidant molecules, were screened and used in this review. Studies assessing the follicular reactive species were found and screened. Moreover, studies assessing the IVF outcomes related to biomarkers were considered. The results are provided in an analytical pathway. The study of biomarkers confirms the shift to enhanced oxidizing modification of macromolecules and antioxidative consumption in the follicular fluid of women undergoing IVF treatment. A lack of congruency in methods appears to be marked in the design of scientific studies. However, it is not clear whether redox disbalance has a disruptive effect on the oocyte competence or whether it plays a role in the oocyte maturation process. Red-ox balance plays a questionable role in IVF outcomes. Possible further insights may consider the antioxidant role of adjuvants during controlled ovarian stimulation cycles.

Are ovarian reserve tests reliable in predicting ovarian response? Results from a prospective, cross-sectional, single-center analysis.

OBJETIVE: Several biomarkers of ovarian reserve have been proposed as possible predictors of the response to controlled ovarian stimulation (COS). We aimed to evaluate age, FSH, AMH, antral follicle count (AFC), and ovarian response prediction index (ORPI), as potential predictors of response to COS. METHODS: Cross-sectional study enrolling of 188 infertile women who underwent the first cycle of IVF/ICSI. AFC was evaluated; serum FSH and AMH levels were measured by ELISA. ORPI was calculated as AMH x AFC/patient´s age. RESULTS: As expected, hypo-responder group had less retrieved oocytes, MII, and embryos compared to the good responders. The hyper-response patients were younger, with lower FSH, increased AMH, AFC, and ORPI values. Regarding the assessment of the predictive capacity of ovarian reserve tests, none of them individually or combined showed a good predictive capacity for hypo-response. With respect to the hyper-responder group, individually AMH was the best predictor, while in the multivariable model, ORPI demonstrated the best predictive capacity. Furthermore, patients with serum AMH < 2.09 ng/mL (p25) had fewer AFC than patients with higher AMH values. CONCLUSIONS: Our findings suggest that none of the ovarian reserve tests showed a good predictive capacity for hypo-response, while the ORPI was the strongest predictor of hyper-response in normovulatory infertile women.

White, brown, and bone marrow adipose tissue behavior in DHEA-induced PCOS mice.

METHODS: Thirty-one female C57BL/6J mice were divided into four groups: two were treated with subcutaneous dehydroepiandrosterone (DHEA) implants and divided into normal and hypercaloric diet (HFD). Two were control and divided into normal and HFD. Presence of insulin resistance, growth, and adipocyte markers expression of white and brown adipose tissues and growth and inflammatory cytokines expression of bone marrow adipose tissue were evaluated. RESULTS: Hypercaloric diet groups presented higher total weight gain and huge growth in all fat sites, except bone marrow. They also demonstrated greater expression of adipocyte markers in sites of white adipose tissue. DHEA + HFD group showed more insulin intolerance than all other groups. DHEA shows to abrogate AdipoQ expression in all fatty tissues. CONCLUSIONS: DHEA alone does not influence adipose tissue growth, but contributes to increased insulin resistance and influences the expression of adipokines. Proximal MAT showed different behavior from the other fat depot.

Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature.

BACKGROUND: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by benign growth of the hair follicles, the presence of pulmonary cysts, spontaneous pneumothorax, and bilateral renal tumors that are usually hybrid oncocytic or multifocal chromophobe renal cell carcinoma. The diagnosis is confirmed by the presence of a pathogenic variant in the tumor suppressor folliculin (FLCN) gene mapped at 17p11.2. Although the dermatological lesions typical of BHDS are benign and only cause aesthetic concerns, and the pulmonary manifestations are controllable, the greater tendency of patients with this syndrome to present benign or malignant renal tumors, often bilateral and multifocal, makes the diagnosis of this syndrome important for the prognosis of the patients. The objective was to report the case of a patient with BHDS, without pulmonary manifestations and with hyperplastic polyposis of the gastrointestinal tract, and to perform a literature review. CASE PRESENTATION: A 60-year-old man complained of abdominal pain and diarrhoea for 2 months. Physical examination was normal except for the presence of normochromic papules in the frontal region of the face associated with hyperkeratotic and hyperchromic papules in the dorsal region. The excisional biopsies of the skin lesions indicated trichodiscomas. Esophagogastroduodenoscopy, enteroscopy, and colonoscopy showed the presence of hyperplastic polyps in the stomach, duodenum, jejunum, colon, and rectum. Computed tomography (CT) and magnetic resonance imaging (MRI) of the abdomen revealed multiple expansive solid lesions in both kidneys, with necrotic and calcified areas. Renal magnetic resonance angiography also showed a solid lesion in the right kidney measuring 5 cm in diameter and another solid lesion in the left kidney measuring 8 cm in diameter, both suggestive of renal angiomyolipoma. CT scans of the skull, chest, and temporal bones were normal. The genetic study revealed the presence of a variant of FLCN in the intron 13. CONCLUSIONS: To the best of our knowledge, this is the first reported case of BHDS with the simultaneous finding of gastrointestinal hyperplastic polyposis, which may represent a possible phenotypic expression of this syndrome that has not yet been described.

Paraoxonase single nucleotide variants show associations with polycystic ovary syndrome: a meta-analysis.

BACKGROUND: Etiology of polycystic ovary syndrome (PCOS) is attributed to genetic and environmental factors. One environmental factor is oxidative stress. Paraoxonase 1 (PON1) is an antioxidant high-density lipoprotein-associated enzyme encoded by the PON1 gene. The PON1 gene has been implicated in the risk for PCOS, the influence of which appears to come from single nucleotide variants (SNVs) at multiple genetic loci. However, association study reports have been inconsistent which compels a meta-analysis to obtain more precise estimates. METHODS: From 12 publications, extracted genotype data were used in two genetic procedures. First, linkage disequilibrium (LD) was used to group eight PON SNVs into three: LD1, LD2 and LD3. Second, frequencies of the variant (var), wild-type (wt) and heterozygous (het) genotypes were used for genetic modeling (allele-genotype for LD1 and standard for LD2 and LD3). Risk associations were expressed in terms of pooled odds ratios (ORs), 95% confidence intervals (CIs) and Pa-values. Evidence was considered strong when significance was high (Pa < 0.0001) and heterogeneity absent (I2 = 0%). Pooled effects were subjected to modifier (power), subgroup (Asian/Caucasian), outlier, sensitivity and publication bias treatments. Multiple comparisons were Bonferroni-corrected. RESULTS: This meta-analysis generated 11 significant outcomes, five in LD1, six in LD2 and none in LD3. All six LD2 outcomes did not survive the Bonferroni-correction but two of the five in LD1 did. These two core LD1 findings conferred greater odds of PCOS to the var allele in the highly significant (Pa < 0.0001) overall (OR 1.44, 95% CI 1.24-1.67) and Asian (OR 1.41, 95% CI 1.20-1.65) outcomes. Of these two core outcomes, the Asian effect was homogeneous (I2 = 0%) but not the overall (I2 = 29%). CONCLUSIONS: Of the eight PON SNVs examined, two (rs854560 and rs662) were associated with PCOS risk. These 1.4-fold increased risk effects rendered Asians susceptible to PCOS. High statistical power, high significance, zero to low-level heterogeneity, robustness and lack of bias in the core outcomes underpinned the strong evidence for association.

Portuguese version of the Expanded Prostate Cancer Index Composite for Clinical Practice (EPIC-CP): psychometric validation and prospective application for early functional outcomes at a single institution.

BACKGROUND: The Expanded Prostate Index Composite for Clinical Practice (EPIC-CP) is a short version of the original EPIC, developed to facilitate the instrument's use in routine care. This study aimed to validate the EPIC-CP Portuguese version, and evaluate its role in presenting early functional outcomes of surgically treated prostate cancer patients at a Latin American referral center. METHODS: The EPIC-CP was self-administered prospectively and individually by all localized prostate cancer patients, before and after robotic-assisted radical prostatectomy, from March 2017 to June 2018 at a single institution. For validation, we used the Cronbach's alpha coefficient to evaluate internal consistency. The EPIC-CP domains were compared before surgery, and 6 months and 12 months after surgery. Statistical analyses were performed using the student's t test, and Wilcoxon and Friedman tests, with p values < 0.05 considered significant. RESULTS: One hundred and fifty two patients answered the EPIC-CP. The patients had a median age of 62.7 (± 8.5) years and prostate specific antigen level of 6.3 (± 4.6) ng/ml. The Cronbach's alpha varied from 0.75 to 0.77 for all domains with good internal consistency, except for the "vitality/hormonal" domain, which had a score of 0.35. The domain evolution for the preoperative and 6-month postoperative groups revealed that the domains related to urinary continence and bowel worsened, and were increased during the first 6 months; however, this variation had no obvious clinical implications, and the irritative symptoms improved. Regarding the sexual domain, the scores worsened, and also increased over the first 6 months. The results of the confirmatory factor analysis were robust, with an explained variance of 0.951 and covariance of 0.929. CONCLUSIONS: The Portuguese version of the EPIC-CP is a reliable and valid questionnaire for postoperative patients, and very useful to improve the knowledge of the early functional outcomes of men treated for prostate cancer.

Body fat distribution influences ART outcomes.

Body mass index (BMI) is the widely used method to evaluate obesity, but it cannot differentiate lean from fat mass neither mass distribution. Other methods have been proposed for this evaluation, as waist and hip circumferences (WC, HC) and ratio (WHR) and body fat analysis by bioimpedance (BF%), but they have not been applied to evaluate assisted reproduction (ART) outcomes. The present study aims at determining whether body composition and adipose tissue distribution are better than BMI on ART outcomes. Analysis was performed through five anthropometric measurements of 788 women submitted to controlled ovarian hyperstimulation and in vitro fertilization techniques. The increase of body fat, independently of the measurement method, was associated to worse reproductive results. However, a surprising finding was that eutrophic women with WC lower than 80 cm showed gestation rates two times superior (38.9% versus 14.3%) when compared to eutrophic women with WC larger than 80 cm (p = .002). Furthermore, obese women with WHR higher than 0.85 showed worse ART results, considering oocytes retrieved, mature oocytes and fertilization when compared to those with WHR lower than 0.85. As a conclusion, it was observed that the body fat distribution, especially WC, was more relevant than BMI to predict ART outcomes.

Influence of STAT4 gene polymorphisms in the pathogenesis of endometriosis.

The STAT4 gene is vital to signaling pathways in the immune response. Immunological alterations are involved in the pathogenesis of endometriosis, and STAT4 polymorphisms may be linked to disease development. This study's aim is to evaluate the possible association between four STAT4 polymorphisms (rs7601754/G > A, rs11889341/C > T, rs7574865/T > G, and rs7582694/C > G) and the pathogenesis of endometriosis in Brazilian women. This case-control study's sample comprised 238 women with endometriosis and 201 healthy, fertile women without endometriosis (which was surgically confirmed). Genotyping was performed using the TaqMan system with a real-time polymerase chain reaction; the genotype, allele, and haplotype frequencies were then compared between groups. A single-polymorphism analysis revealed that the TT genotype of the rs7574865/T > G polymorphism was significantly more frequent in women with minimal or mild endometriosis than in the controls (10% vs. 5%, p = 0.047). The CGAC, GTAT, and GTAC haplotypes were significantly more frequent in the women with endometriosis-related infertility (5.8%, 4.1%, and 2.9%, respectively) than in the controls (2.4%, 1.1%, and 0.8%, respectively; p = 0.020, p = 0.011, and p = 0.032, respectively), but the GGGC and CTAT haplotypes were significantly more prevalent in the control group (34.7% and 13.9%, respectively) than among the infertile group (26.2% and 9.1%, respectively). In addition, the CGAC haplotype was more frequently found in those with minimal or mild endometriosis (6.8%) than in the controls (2.4%, p = 0.009), and the GTAT haplotype was more commonly found in those with moderate or severe disease (3.6%) than in the controls (1.1%, p = 0.028). These findings suggest that STAT4 polymorphisms can influence the pathogenesis of endometriosis.

Involvement of repair genes in oral cancer: A systematic review.

Among the types of cancers that may occur in the oral cavity, squamous cell carcinomas (SCC) of the mouth have a higher incidence and are associated with increased rates of morbidity and mortality. Among steps from the beginning to the progression of the tumour, DNA Repair System is highlighted. The present study aims to conduct a systematic review of the literature on the expression of the repair genes hMSH2 and hMSH6 in patients with SCC in the mouth and oropharyngeal region. The search was performed in databases such as PubMed, Lilacs, and Scielo and included articles published in English from 1999 until 2015. The search in the above-mentioned databases initially yielded 15 scientific articles related to the proposed objective. After a detailed analysis of each of them, only 8 were included in the present review, precisely because they met the inclusion criteria determined in the method. All the reviewed works were unanimous in recognizing the veracity and complexity of the Genomic Repair System, also called Mismatch Repair System, confirming the participation of repair gene proteins (such as hMSH2 and hMSH6) in patients with oral cancer and even of lesions that are susceptible to malignization. SIGNIFICANCE OF THE STUDY: Worldwide, there are an estimated 300 thousand new cases of oral cancer per year. Studies have shown a greater risk in individuals who are smokers and alcohol consumers in developing mouth cancer. Many steps are observed from the beginning to the progression of the tumour, highlighted among them is the moment in which genetic, and epigenetic alterations will interfere in the functioning of the DNA Repair System. This work presents a survey of current knowledge about the involvement of repair genes, especially those of the MutSα system, in the development and progression of oral cancer.

Association between vitamin D plasma concentrations and VDR gene variants and the risk of premature birth.

BACKGROUND: Premature birth is the main cause of mortality in children under 1 year, and vitamin D deficiency during gestation is associated with prematurity. The effects of vitamin D are mediated by its receptor, which is encoded by the VDR gene. VDR variants-such as single nucleotide variation (SNV)-are associated with increased risk of prematurity, but there are conflicting results. We evaluated serum vitamin D concentrations and the frequency of TaqI/A > G, BsmI/C > T, ApaI/C > A, and FokI/A > T VDR variants in mothers and preterm (PTN) and full-term (FTN) newborns. METHODS: We conducted a case-control study comprising 40 pairs of mothers and their PTNs (gestational age < 32 weeks and/or weight < 1500 g), and 92 pairs of mothers and FTNs as controls. Genotyping was performed by real-time PCR, and plasma vitamin D concentrations were measured by electrochemiluminescence. RESULTS: Vitamin D levels were significantly lower in PTN mothers. Genotypes TaqI/GG and BsmI/TT, and haplotypes AAG (TaqI/A-ApaI/A-FokI/G) and GCA (TaqI/G-ApaI/C-FokI/A) were significantly more frequent in PTN mothers, and genotypes TaqI/AG, ApaI/AA, and FokI/AG resulted in significantly lower vitamin D levels. Genotypes BsmI/TT and ApaI/AA were associated with vitamin D deficiency and 2.36 and 7.99 times greater likelihood of PTB, respectively. Vitamin D levels were also lower in PTNs, although it was not statistically significant. Genotypes BsmI/TT, ApaI/AA, and FokI/GG, and haplotype GAG (TaqI/G-ApaI/A-FokI/G) were significantly more frequent in PTNs. Those with FokI/GG genotypes had significantly lower vitamin D levels. CONCLUSIONS: VDR variants contribute to variations in vitamin D concentrations and the increased risk of prematurity.

Vitamin D Levels, Frequency of Vitamin D Receptor Gene Polymorphisms, and Associations with Overweight and Asthma in Brazilian Schoolchildren.

BACKGROUND: In children, nutritional status of vitamin D (vitD), frequency of vitD receptor (VDR) gene polymorphisms and their associations with overweight and asthma remain controversial. OBJECTIVES: To evaluate the nutritional status of vitD and the frequency of VDR gene polymorphisms, as well as identify their associations with nutritional status and asthma. METHODS: A cross-sectional study was conducted with schoolchildren (n = 262; mean age = 8.7 ± 1.3 years). Clinical history, anthropometric measurements, and serum 25-hydroxy vitD were evaluated. Four VDR gene polymorphisms were identified and genotypes, alleles, and haplotypes were calculated. RESULTS: The serum vitD levels were found at 85.1%, within normal range. The FokI AA genotype was more frequent in asthmatics compared to healthy controls (10 vs. 1%, p < 0.05), while the GG genotype was less frequent (45.0 vs. 55.2%, p < 0.05). The frequency of the TT allele for the ApaI was higher among asthmatic eutrophic children (60.9 vs. 29.4%, p < 0.05) and that of the TT allele for the BsmI was higher among asthmatic overweight children (35.3 vs. 4.4%, p < 0.05). CONCLUSIONS: Insufficiency in vitD was low. Two wild-type alleles (AA) of FokI were identified as risk factor for the development of asthma, while GG alleles appears to be a protective factor. To have polymorphic alleles (TT) of ApaI seems to be a risk factor for asthma in children with normal weight, while that of BsmI seems to be a risk factor for asthma in overweight condition. Serum vitD was not different among analyzed genotypes.

New candidate genes associated to endometriosis.

A previous GWAS study performed on Brazilian pooled samples indicated some SNPs (single nucleotide polymorphisms) differentially frequent in infertile patients with endometriosis and controls. Some of them were located in the genes whose biological function suggests that they could be associated with endometriosis pathogenesis; thus, the purpose here was to confirm GWAS findings in a larger group of cases and controls in order to associate the results with the pathogenesis of endometriosis. Then, a genetic association study comprising 394 infertile women with endometriosis and 650 fertile control women was conducted. TaqMan allelic discrimination assays were used to investigate the frequency of three SNPs in the genes KAZN (rs10928050), LAMA5 (rs2427284), and TAC3 (rs733629). The analysis revealed a significant association of KAZN rs10928050 (p = .015) and LAMA5 rs2427284 (p = .0059) SNPs with endometriosis-related infertility, while TAC3 rs733629 showed no difference between cases and controls. As a conclusion, it was possible to observe that individual genotyping of a larger sample of patients and controls confirmed the association among KAZN and LAMA5 with endometriosis-related infertility and revealed new candidate genes contributing to the condition.