Cross-Cultural Adaptation and Measurement Properties Analysis of the Brazilian Portuguese Version of the ICIQ-VS.

INTRODUCTION AND HYPOTHESIS: The high prevalence of pelvic floor disorders in women requires assessments using validated instruments. We aimed to translate, cross-culturally adapt to Brazilian Portuguese, and analyze the measurement properties of the International Consultation on Incontinence Questionnaire Vaginal Symptoms Module (ICIQ-VS-Br). METHODS: Participants were Brazilian women older than 18 years presenting vulvovaginal symptoms according to the Vulvovaginal Symptoms Questionnaire (VSQ-Br). The development of the ICIQ-VS-Br included the steps of translation, synthesis, back-translation, expert meeting, and pre-test. We analyzed construct validity by correlating the ICIQ-VS-Br and VSQ-Br. The participants answered the ICIQ-VS-Br the second time 7 to 10 days after the first response. We measured test-retest reliability using intraclass correlation coefficient (ICC), internal consistency using Cronbach's alpha, and construct validity using Pearson's correlation coefficient. RESULTS: The study included 313 women. Reproducibility was analyzed for the three subscales of the ICIQ-VS-Br, resulting in an ICC of 0.92 (95% CI 0.89 to 0.94) for "vaginal symptoms," 0.85 (95% CI 0.78 to 0.89) for "sexual matters," and 0.87 (95% CI 0.81 to 0.91) for "quality of life." Construct validity showed a moderate correlation between ICIQ-VS-Br and VSQ-Br, confirming our hypotheses. CONCLUSIONS: The ICIQ-VS-Br demonstrated validity and reproducibility, indicating that the instrument can be used in scientific research and clinical practice.

The Brazilian Portuguese version of the ICIQ-FLUTSsex: cross-cultural adaptation and measurement property analysis.

INTRODUCTION AND HYPOTHESIS: The worldwide prevalence of sexual dysfunction in women is high; therefore, an adequate assessment of this condition is necessary, with instruments validated for the Brazilian population. The aim was to translate and adapt the International Consultation on Incontinence Questionnaire Female Sexual Matters Associated with Lower Urinary Tract Symptoms into Brazilian Portuguese (ICIQ-FLUTSsex-Br) and analyze its measurement properties. METHODS: We recruited Brazilian women, literate, over 18 years old, who had had sexual intercourse in the last 4 weeks and had urinary loss. The translation and cross-cultural adaptation were performed following five stages: translation, synthesis, back translation, expert committee review, and pre-test. Measurement properties were analyzed using SPSS software, as follows: test-retest reliability using the intraclass correlation coefficient (ICC); construct validity using Pearson's correlation coefficient, by correlating the ICIQ-FLUTSsex-Br with the Female Sexual Function Index (FSFI) and the Pelvic Organ Prolapse/Urinary Incontinence Sexual Questionnaire (PISQ-12). RESULTS: A total of 328 women participated in the study. The reproducibility was 0.88, the standard error of measurement was 0.29, and the minimal detectable change was 0.80 (95% CI). Moderate correlations were found between the total scores of the ICIQ-FLUTSsex and PISQ-12 questionnaires (0.54, p<0.01), confirming the hypotheses outlined. Weak correlations were also found for comparisons between the FSFI and ICIQ-FLUTSsex total scores (-0.56, p<0.01) and the PISQ-12 question about fear of incontinence hindering sexual intercourse (0.26, p<0.01). CONCLUSION: The Portuguese-language version of the ICIQ-FLUTSsex-Br showed validity and reproducibility, making it a tool to be used in research and clinical practice by health professionals in Brazil.

Prevalence and factors associated with sexual dysfunction in brazilian women: a cross-sectional study.

INTRODUCTION AND HYPOTHESIS: Changes in the mechanisms that modulate sexual response can contribute to the development of female sexual dysfunction (FSD). Although the prevalence of FSD in Brazil has been established, its associated risk factors have not been thoroughly examined. This study aimed to determine the prevalence of FSD in Brazilian women and identify any factors that may be associated with its presence. METHODS: This study used a cross-sectional design and included women aged 18 years or older who had engaged in sexual activity within the past four weeks. Participants completed the Female Sexual Function Index (FSFI) and a sociodemographic and health questionnaire. Two groups were created based on FSFI scores: those with risk for FSD (score >26.55) and those without. The study used t-tests for independent samples to compare quantitative variables between the groups, and the chi-squared test, to compare categorical variables. Binomial logistic regression was used to test the association between sociodemographic and health variables and FSD. RESULTS: FSD had a prevalence of 31.7% (95% CI: 28.2%-35.5%). The results indicated that practice of physical activity was inversely associated with FSD (OR: 0.64, 95% CI: 0.45-0.92), whereas urinary incontinence (OR: 2.55, 95% CI: 1.68-3.87) and post-menopause (OR: 4.69, 95% CI: 1.66-13.3) were directly associated with FSD. CONCLUSIONS: A high prevalence of FSD was observed among Brazilian women in this study. Physically active women are less likely to have FSD. Menopause and the presence of urinary incontinence can negatively impact female sexual function.

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.

Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life-threatening birth defect that often occurs with other major birth defects (EA/TEF+). Despite advances in genetic testing, a molecular diagnosis can only be made in a minority of EA/TEF+ cases. Here, we analyzed clinical exome sequencing data and data from the DECIPHER database to determine the efficacy of exome sequencing in cases of EA/TEF+ and to identify phenotypic expansions involving EA/TEF. Among 67 individuals with EA/TEF+ referred for clinical exome sequencing, a definitive or probable diagnosis was made in 11 cases for an efficacy rate of 16% (11/67). This efficacy rate is significantly lower than that reported for other major birth defects, suggesting that polygenic, multifactorial, epigenetic, and/or environmental factors may play a particularly important role in EA/TEF pathogenesis. Our cohort included individuals with pathogenic or likely pathogenic variants that affect TCF4 and its downstream target NRXN1, and FANCA, FANCB, and FANCC, which are associated with Fanconi anemia. These cases, previously published case reports, and comparisons to other EA/TEF genes made using a machine learning algorithm, provide evidence in support of a potential pathogenic role for these genes in the development of EA/TEF.

Cross-cultural adaptation and measurement property analysis of the Brazilian Portuguese version of the Three Incontinence Questionnaire.

INTRODUCTION AND HYPOTHESIS: The differential diagnosis of urinary symptoms may allow health professionals to establish a therapeutic objective and to choose the appropriate treatment for the patient's complaint. The aim of this study was to cross-culturally adapt the Three Incontinence Questionnaire (3IQ) into Brazilian Portuguese (3IQ-Br) and to analyze test-retest reliability, construct, and criterion validity in women. METHODS: The cross-cultural adaptation of the 3IQ-Br included forward-translation, back-translation, and consensus among an expert committee. Participants with and without urinary incontinence (UI) completed the 3IQ-Br, King's Health Questionnaire (KHQ), and Questionnaire for Female Urinary Incontinence Diagnosis (QUID-Br). Only women with UI answered 3IQ-Br after 7-10 days. Test-retest reliability and construct validity were analyzed using the Cohen linear kappa (k). The 3IQ-Br accuracy was analyzed using the area under the curve (AUC) of the receiver-operating characteristic (ROC) curve, considering the sensitivity and specificity to correctly classify women with and without UI. RESULTS: The reliability of each question from the 3IQ-Br was considered substantial in the test-retest. The agreement among 3IQ-Br, QUID-Br, and KHQ was almost perfect for UI diagnosis (k > 0.8). The 3IQ-Br was considered to have good accuracy in distinguishing women with UI considering the KHQ (AUC 0.83, 95% confidence interval [CI] 0.78 to 0.87, p < 0.001), and fair to the QUID-Br (AUC 0.73, 95% CI 0.68 to 0.78; p < 0.001). CONCLUSIONS: The results of this study showed that this version of the 3IQ-Br has acceptable measurement properties for identifying and differentiating UI symptoms in Brazilian women.

Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.

With advances in genetic testing and improved access to such advances, whole exome sequencing is becoming a first-line investigation in clinical work-up of children with developmental delay/intellectual disability (ID). As a result, the need to understand the importance of genetic variants and its effect on the clinical phenotype is increasing. Here, we report on the largest cohort of patients with HNRNPU variants. These 21 patients follow on from the previous study published by Yates et al. in 2017 from our group predominantly identified from the Deciphering Developmental Disorders study that reported seven patients with HNRNPU variants. All the probands reported here have a de novo loss-of-function variant. These probands have craniofacial dysmorphic features, in the majority including widely spaced teeth, microcephaly, high arched eyebrows, and palpebral fissure abnormalities. Many of the patients in the group also have moderate to severe ID and seizures that tend to start in early childhood. This series has allowed us to define a novel neurodevelopmental syndrome, with a likely mechanism of haploinsufficiency, and expand substantially on already published literature on HNRNPU-related neurodevelopmental syndrome.

Pelvic floor dysfunctions in female cheerleaders: a cross-sectional study.

INTRODUCTION AND HYPOTHESIS: Cheerleaders perform high-impact maneuvers that can be associated with pelvic floor dysfunction. We hypothesized that female cheerleaders would report more symptoms of pelvic floor dysfunction and fewer symptoms of premenstrual syndrome than nonathletic women. METHODS: This cross-sectional study included high-performance female cheerleaders and young nonathletic, nulliparous, and normal-weight females. Demographics, sports practices, and pelvic floor dysfunction data were collected through an electronic questionnaire. Urinary symptoms were collected through the International Consultation on Incontinence Questionnaire-Short Form (ICIQ-SF) and King's Health Questionnaire. Intestinal symptoms were collected through the use of Criterion F of item C3, referring to functional constipation of Rome III and Fecal Incontinence Severity Index. Data on sexual function were collected through the Female Sexual Function Index. Data on pelvic organ prolapse were obtained through the International Consultation on Incontinence Questionnaire-Vaginal Symptoms (ICIQ-VS). In addition, questions about premenstrual syndrome-dysmenorrhea, irritability, headache, tiredness, fluid retention, and constipation-were collected through the Menstrual Symptom Questionnaire. The comparison between groups of the quantitative variables was performed using the Mann-Whitney U test. Odds ratios (OR) and 95% confidence intervals (CI) were estimated for comparison between groups on the occurrence of pelvic floor muscle dysfunction symptoms. A significance level of 5% was adopted. RESULTS: A total of 156 women (78 cheerleaders and 76 nonathletes) completed the electronic questionnaire. Anal incontinence was the most prevalent symptom of pelvic floor muscle dysfunction. Cheerleaders were 2.3 times more likely to report symptoms regarding anal incontinence than nonathletic women. For the other symptoms of pelvic floor dysfunction, no statistical differences between the groups were found. Cheerleaders reported fewer symptoms of tiredness and constipation during the premenstrual period than did nonathletic women. CONCLUSION: Pelvic floor dysfunction, particularly anal incontinence, appears to be more prevalent among cheerleaders than among nonathletic women. In addition, cheerleaders demonstrated fewer symptoms of tiredness and constipation during the premenstrual period.

Are there differences in short-term pelvic floor muscle function after cesarean section or vaginal delivery in primiparous women? A systematic review with meta-analysis.

INTRODUCTION AND HYPOTHESIS: The literature presents controversial results regarding the role of delivery mode in pelvic floor muscle (PFM) function after birth. Some studies showed a greater impairment of PFM function after vaginal delivery compared with cesarean section, while others have not identified a significant difference between these two modes of delivery. This study aimed to investigate whether there was a difference in short-term PFM function after childbirth in primiparous women who underwent cesarean section compared with those who underwent vaginal delivery. METHODS: Up to December 2018, the PubMed-MEDLINE, CINAHL, Embase, Bireme, Scopus, Web of Science, and Science Direct databases were searched. Two independent reviewers performed the selection process based on titles, abstracts, and full-text reading. Observational studies comparing PFM function after cesarean section versus vaginal delivery in primiparous women were included. PRISMA guidelines and Cochrane recommendations were followed. Methodological quality of the primary studies was assessed through the checklist proposed by the Joanna Briggs Institute for cross-sectional studies. Random effects meta-analysis was performed to synthesize evidence regarding PFM strength in primiparous woman after vaginal delivery compared with cesarean section. The GRADE approach was applied to classify the quality of the evidence. RESULTS: Eleven studies met the inclusion criteria and were included in this review. A total of 1726 primiparous women were analyzed after childbirth. Five studies were included in the meta-analysis. No difference in PFM strength after childbirth was identified when cesarean section was compared with vaginal delivery [standardized mean difference (SMD): -0.15, 95% confidence interval (CI): -0.85 to 0.56]. Differences in PFM strength were identified when patients who underwent cesarean section were compared with those with an episiotomy or instrumented vaginal delivery (SMD: -12.51, CI 95%: -24.57 to -0.44), favoring the cesarean section group. In both cases, the quality of evidence was classified as very low because of the observational design of the included studies and population heterogeneity. CONCLUSION: There was no difference in short-term PFM strength after childbirth between primiparous women who underwent cesarean section or vaginal delivery, as assessed through vaginal manometry. However, we identified reduced PFM strength in women who underwent an episiotomy or instrumented vaginal delivery compared with those who underwent cesarean section. Nevertheless, this conclusion should be cautiously considered as the observational design of the primary studies and possible heterogeneity among the primiparous women included in the studies contributed to reducing the quality of the evidence synthesized. Future primary studies with longitudinal designs and long-term follow-up periods are needed to strengthen the quality of evidence and provide more conclusive evidence to guide clinical practice.

Cross-cultural adaptation and psychometric evaluation of the Brazilian Portuguese version of the childbirth experience questionnaire.

BACKGROUND: The Childbirth Experience Questionnaire (CEQ) is a tool designed to assess women's perceptions about labor and delivery. The aim of this study was to perform the cross-cultural adaptation and validation of the Brazilian Portuguese version of the CEQ (CEQ-Br). METHODS: The original version of the CEQ was translated into Portuguese, analyzed by a committee of experts, back translated, and finally submitted to pilot-test. Two applications of the CEQ-Br were performed along with the quality of life questionnaire Medical Outcomes Study 36 - Item Short-Form Health Survey (SF-36). The SPSS software was used for statistical analysis, the intraclass correlation coefficient was used to investigate test-retest reliability, the internal consistency was investigated with the Cronbach's Alpha, and the construct validity was investigated via the Spearman correlation test. The level of significance was set at 5%. RESULTS: The study included 308 women with a mean age of 31.1 ± 8.7 years. The internal consistency results for the total CEQ-Br score was considered adequate (0.89), the test-retest showed a substantial result with an ICC of 0.90, and the construct validity was analyzed via the Spearman correlation between all SF-36 dimensions and the total CEQ-B score, the analyses were considered adequate. CONCLUSIONS: The results presented in this CEQ-Br validation study showed that the instrument was reliable in measuring the established psychometric properties and was considered valid. Therefore, the CEQ-Br can be applied to the Brazilian population.

Fatigue, sleep quality and mental health symptoms in Brazilian women during the COVID-19 pandemic: longitudinal study.

To assess the impact of the COVID-19 pandemic on the variables of sleep quality, fatigue, anxiety, and depression in healthy Brazilian women. Longitudinal observational study conducted through an online questionnaire with women in 2020 and 2021. The Pittsburgh Sleep Quality Index, the Fatigue Severity Scale and the Hospital Anxiety and Depression Scale were used. The data were analyzed descriptively and the comparison between the data obtained in the first and second evaluation was performed using the McNemar test. A logistic regression was applied to test the association between the variables that showed a significant difference. A total of 235 women responded to the questionnaires. There was a significant increase in fatigue between the two moments (p < 0.05). In the first assessment, depression (OR: 2.39; 95% CI: 1.14-4.99), anxiety (OR: 2.68; 95% CI: 1.37-5.22) and sleep quality (OR: 4.01; 95% CI: 1.71-9.67) were associated with fatigue. In the second assessment, depression (OR: 2.93; 95% CI: 1.19-7.18) and anxiety (OR: 2.69; 95% CI: 1.27-5.71) were associated with fatigue. There was an impact on biopsychosocial aspects during the COVID-19 pandemic, with worsening of fatigue symptoms within a 6-month interval. In addition, fatigue was associated with symptoms of depression and anxiety, and worse sleep quality in the first year of the pandemic, remaining associated with symptoms of depression and anxiety in the second year of the pandemic in the country.

Cross-cultural adaptation and psychometric evaluation of the Brazilian Portuguese version of the Vulvovaginal Symptoms Questionnaire.

OBJECTIVE: The aims of this study were to perform a cross-cultural adaptation of the Vulvovaginal Symptoms Questionnaire (VSQ) into Brazilian Portuguese (VSQ-Br) and evaluate its measurement properties (structural validity, construct validity, internal consistency, and reliability). METHODS: Cross-cultural adaptation was conducted through the translation, synthesis, and back-translation of the VSQ-Br. Subsequently, 314 women completed the Pelvic Floor Impact Questionnaire, Pelvic Floor Disorders Inventory, Medical Outcomes Study 36-Item Short-Form Health Survey, and VSQ-Br. Seven to 10 days later, participants completed the VSQ-Br for the second time. Data were submitted for confirmatory factor analysis. Cronbach α was used to verify internal consistency, and construct validity was assessed using Pearson correlation coefficient ( r ). Reliability was calculated using the intraclass correlation coefficient. RESULTS: Confirmatory factor analysis showed that the questions were grouped into four domains (symptoms, emotions, life impact, and sexual impact). The model showed good fit (>0.95). The Cronbach α in this study was 0.85, reflecting adequate internal consistency. Adequate reliability was confirmed, with an intraclass correlation coefficient total score of 0.80. The VSQ-Br had a weak correlation with the pelvic domain of the Pelvic Floor Disorders Inventory, the pelvic organ prolapse domain of the Pelvic Floor Impact Questionnaire, and pain, vitality, and the social aspect domains of the Medical Outcomes Study 36-Item Short-Form Health Survey. CONCLUSIONS: The VSQ-Br was validated and had acceptable measurement properties for assessing vulvovaginal symptoms in Brazilian women.

Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration.

Amyotrophic lateral sclerosis (ALS) is a spontaneous, relentlessly progressive motor neuron disease, usually resulting in death from respiratory failure within 3 years. Variation in the genes SOD1 and TARDBP accounts for a small percentage of cases, and other genes have shown association in both candidate gene and genome-wide studies, but the genetic causes remain largely unknown. We have performed two independent parallel studies, both implicating the RNA polymerase II component, ELP3, in axonal biology and neuronal degeneration. In the first, an association study of 1884 microsatellite markers, allelic variants of ELP3 were associated with ALS in three human populations comprising 1483 people (P=1.96 x 10(-9)). In the second, an independent mutagenesis screen in Drosophila for genes important in neuronal communication and survival identified two different loss of function mutations, both in ELP3 (R475K and R456K). Furthermore, knock down of ELP3 protein levels using antisense morpholinos in zebrafish embryos resulted in dose-dependent motor axonal abnormalities [Pearson correlation: -0.49, P=1.83 x 10(-12) (start codon morpholino) and -0.46, P=4.05 x 10(-9) (splice-site morpholino), and in humans, risk-associated ELP3 genotypes correlated with reduced brain ELP3 expression (P=0.01). These findings add to the growing body of evidence implicating the RNA processing pathway in neurodegeneration and suggest a critical role for ELP3 in neuron biology and of ELP3 variants in ALS.

The effect of parity on the function of pelvic floor musculature in the long term: cross-sectional study.

OBJECTIVE: Parity is associated with an increased risk of pelvic floor muscle dysfunction. The aim of this study was to evaluate the long-term effects of parity on this musculature. METHODS: This cross-sectional study was completed at the Department of Physical Therapy, Federal University of São Carlos, Brazil. In total, 143 women participated in the study and were classified into three groups according to parity: nulliparae, primiparae, and secundiparae women. All parous participants had last given birth between 1 and 6 years prior. Pelvic floor muscle function was assessed through unidigital vaginal palpation using the PERFECT scheme, with the contraction grade classified according to the Modified Oxford Scale and through manometry. RESULTS: There was no difference in scores on the Modified Oxford Scale (the means and standard deviations were 2.5±0.8 in nulliparae women, 2.3±0.9 in primiparae women, and 2.2±0.9 in secundiparae women; P=0.482) and manometry findings (the means and standard deviations were 42.3±22.7 in nulliparae women, 35.0±21.8 in primiparae women, and 33.2±20.0 in secundiparae women; P=0.144) among the assessed groups. CONCLUSION: Parity had no effect, regardless of mode of birth, on the function of pelvic floor muscles and the presence of urinary symptoms, such as long-term urinary incontinence after birth.

Cross-cultural adaptation to Brazilian Portuguese and assessment of the measurement properties of the Questionnaire for Urinary Incontinence Diagnosis (QUID).

OBJECTIVE: This study aimed to adapt the Questionnaire for Urinary Incontinence Diagnosis (QUID) into Brazilian Portuguese (QUID-Br) and evaluate its measurement properties, given as reliability, validity, and responsiveness in women with urinary incontinence. STUDY DESIGN: It was a methodological study which enrolled 168 women (mean age = 55.1, standard deviation = 17.9 years old). Translation and cross-cultural adaptation were done and subsequently analysis of the measurement properties of QUID-Br were tested: structural validity (by exploratory and confirmatory factory analysis) internal consistency (Cronbach's α) construct validity (Pearson Correlation), and test-retest reliability (Intraclass Correlation Coefficient). RESULTS: The QUID-Br two-factor was confirmed showing two domains with three items each: stress urinary incontinence (SUI) and urge urinary incontinence (UUI). Furthermore, QUID-Br showed acceptable internal consistency for both scales (Cronbach's α > 0.70), reliability [intraclass correlation coefficient (ICC = 0.85 for SUI and 0.87 for UUI)] with 95 % confidence interval (CI) and construct validity - with all the hypothesis raised a priori being confirmed. CONCLUSIONS: The results of the present investigation showed that the QUID-Br is a valid, reliable, and consistent instrument to be administered to Brazilian women and its use is recommended in clinical practice and research.

Implications of pain in functional activities in immediate postpartum period according to the mode of delivery and parity: an observational study.

OBJECTIVES: To identify women's complaints about pain in the immediate postpartum of vaginal delivery and cesarean section; to measure the intensity of pain in postpartum women at rest and with selected movements and to compare the activity limitations in relation to the mode of delivery and parity. METHOD: Observational, descriptive, cross-sectional study. Eighty-six women, in the immediate postpartum period after vaginal delivery (n=43) and cesarean section (n=43), were evaluated for physical discomforts and their difficulty in performing functional activities. RESULTS: Abdominal pain (mean differences=-39.5%; 95% CI=-57.3 to -21.8%), neck pain (mean differences=-16.3%; 95% CI=-32.3 to -0.3%) and edema (mean differences=-41.4%; 95% CI=-63.3 to -20.4%) were reported of cesarean women postpartum. Perineal pain (p<0.05) was reported in vaginal delivery women postpartum. Postpartum pain was more severe during movement after cesarean section (p<0.05) resulting in pain during the activities of sitting down (mean differences=-30.2%; 95% CI=-50.7 to -9.8%), standing up from a sitting position (mean differences=-46.5%; 95% CI=-65.0 to -28.0%), walking (mean differences=-44.2%; 95% CI=-65.2 to -23.1%), lying down (mean differences=-32.6%; 95% CI=-54.9 to -10.3%) and taking a bath (mean differences=-24.0%; 95% CI=-43.1 to -5.0%). Correspondence analysis found no association between parity and functional limitations. CONCLUSION: The highest number of complaints was associated with movement activities and cesarean section postpartum. There was no relationship between functional limitations and parity in this study.

Effect of cryotherapy on relief of perineal pain after vaginal childbirth with episiotomy: a randomized and controlled clinical trial.

OBJECTIVE: Verify the effectiveness of cryotherapy in relieving perineal pain in women after vaginal delivery with episiotomy. DESIGN: Randomized controlled clinical trial. SETTING: Reference Center of Women's Health of Ribeirão Preto (MATER), in the state of São Paulo. PARTICIPANTS: The study included 50 women who reported pain in the postpartum period following vaginal delivery with episiotomy. INTERVENTION: The women in the experimental group applied a bag of crushed ice to the perineal region for 20minutes. Both groups were assessed before, immediately after removal of the ice bag, and one hour after cryotherapy treatment. MAIN OUTCOME MEASURES: Complaint of pain was evaluated using a numerical pain assessment scale (0 to 10). Perineal temperature was also measured using an infrared thermometer, and the satisfaction of women undergoing the treatment was assessed using a questionnaire. RESULTS: Pain relief was verified for the experimental group compared to the control group in the second (immediately after use of cryotherapy) and third evaluations (one hour after cryotherapy). The temperature of the perineal region was found to be related to the intensity of pain, e.g. the lower the temperature provided by cryotherapy, the lower the woman's complaint of pain. 88% of women reported being satisfied with the treatment. CONCLUSION: After 20minutes of application, cryotherapy was effective in relieving perineal pain in women in the immediate postpartum period after vaginal birth with episiotomy. TRIAL REGISTRATION NUMBER: ACTRN12613000052730.

Perfil do conhecimento de mulheres sobre a atuação do fisioterapeuta na saúde da mulher / Perfil de conocimiento de las mujeres sobre el papel del fisioterapeuta en la salud de la mujer / Women's knowledge about the physical therapist's performance in women's health

RESUMO Objetivou-se avaliar o perfil do conhecimento de mulheres brasileiras sobre a atuação do fisioterapeuta na saúde da mulher. As participantes preencheram um questionário online contendo: dados socioeconômicos e demográficos, questões acerca do conhecimento sobre a atuação da Fisioterapia na Saúde da Mulher e das atuais condições de saúde. Foram realizadas análises descritivas para a caracterização da amostra, os níveis de conhecimento e o autorrelato de disfunções do assoalho pélvico e para a associação entre o conhecimento geral, o autorrelato de disfunções e o conhecimento das subáreas da Fisioterapia na Saúde da Mulher. Participaram 446 mulheres de todas as regiões do Brasil, sendo 86,3% do Sudeste, 9,4% do Sul, 1,6% do Nordeste, 1,3% do Centro-Oeste e 1,3% do Norte. A média de idade foi de 30,1±10,5 anos. O autorrelato de disfunções do assoalho pélvico foi de 20,4% de incontinência urinária, 27,6% de disfunções sexuais, 25,8% sintomas intestinais e 6,7% de dor pélvica crônica. Das participantes, 61% apresentavam algum conhecimento sobre a área da Fisioterapia na Saúde da Mulher e 96,9% gostariam de conhecer mais sobre essa especialidade. Apesar de muitas mulheres terem conhecimento sobre essa área, uma minoria já foi encaminhada ou realizou tratamento especializado de Fisioterapia na Saúde da Mulher. Houve associação estatisticamente significativa entre o nível de conhecimento das mulheres sobre a atuação do fisioterapeuta na saúde da mulher com o autorrelato de disfunções do assoalho pélvico e o nível de conhecimento das subáreas de atuação.

RESUMEN El objetivo fue evaluar el perfil del conocimiento de las mujeres brasileñas sobre el rol del fisioterapeuta en la salud de la mujer. Las mujeres completaron un cuestionario en línea conteniendo: datos socioeconómicos y demográficos, cuestiones acerca de su conocimiento sobre el papel de la fisioterapia en la salud de la mujer y las condiciones de salud actuales. Se realizaron análisis descriptivos para caracterizar la muestra, los niveles de conocimiento y el autoinforme de disfunciones del suelo pélvico y la asociación entre conocimiento general, autoinforme de disfunciones y conocimiento de las subáreas de fisioterapia en la salud de la mujer. Participaron 446 mujeres de todas las regiones de Brasil, el 86,3% del Sudeste, el 9,4% del Sur, el 1,6% del Nordeste, el 1,3% del Medio Oeste y el 1,3% del Norte. El promedio de edad fue de 30,1±10,5 años; el autoinforme de disfunciones del suelo pélvico fue del 20,4% de incontinencia urinaria, el 27,6% de disfunciones sexuales, el 25,8% de síntomas intestinales y el 6,7% de dolor pélvico crónico. De las participantes, el 61% tenía algún conocimiento sobre el área de la fisioterapia en la salud de la mujer y al 96,9% le gustaría saber más sobre esta especialidad. Aunque muchas mujeres conocen esta área, una minoría ha sido derivada o ha recibido tratamiento fisioterapéutico especializado para la salud de la mujer. Hubo una asociación estadísticamente significativa entre el nivel de conocimiento de las mujeres sobre el papel del fisioterapeuta en la salud de la mujer con el autoinforme de disfunciones del suelo pélvico y el nivel de conocimiento de las subáreas de desempeño.

ABSTRACT This study aimed to evaluate the profile of knowledge of Brazilian women about the physical therapist's role in women's health. The women answered an online questionnaire containing: socioeconomic, demographic data, knowledge about the role of physical therapy in women's health, and current health conditions. Descriptive analyses were carried out to characterize the sample, levels of knowledge and self-report of pelvic floor dysfunctions, and the association between general knowledge, self-report of dysfunctions, and knowledge of the sub-areas of physical therapy in women's health. In total, 446 women from all regions of Brazil participated: 86.3% from the Southeast, 9.4% from the South, 1.6% from the Northeast, 1.3% from the Midwest, and 1.3% from the North. The mean age was 30.1±10.5 years; the self-report of pelvic floor dysfunctions was 20.4% urinary incontinence, 27.6% sexual dysfunctions, 25.8% intestinal symptoms, and 6.7% chronic pelvic pain. Of the participants, 61% had some knowledge about the role of physical therapy in women's health and 96.9% would like to know more about this specialty. Although many women are aware of this area, a minority has been referred to or has undergone specialized physical therapy treatment for women's health. There was a statistically significant association between the level of knowledge of women about the physical therapist's role in women's health with the self-report of pelvic floor dysfunctions and the level of knowledge of the sub-areas of performance.

Perinatal care in the COVID-19 pandemic: analysis of Brazilian guidelines and protocols / Atenção perinatal na pandemia da COVID-19: análise de diretrizes e protocolos nacionais

Abstract Objectives: to analyze protocols and direct Brazilian women to prevent perinatal seizures during the CO VID-19 pandemic, based on the positive perinatal experience. Methods: exploratory analysis of document analysis. In the first phase, from April 11 to May 14, in order to search for words with keywords, 402 documents were found. The second phase consisted of reading the set of selected documents and dividing them into categories. The analysis was carried out in light of the guidelines for a positive perinatal experience of the World Health Organization. Results: as well as directing flow detection phase protocols to mice that show or do not receive COVID-19 symptoms and are being updated with new evidence of systemic evidence. It appears that there are several guidelines for prenatal, partial and puerperium, divergences in some documents for example umbilical cord clamping, skin-to-skin contact, newborn bath. Conclusions: analyze the permissible conclusions that most recommendations are in line with preconceived notions of positive perinatal experience, but is necessary to adaptation to the Brazilian context.

Resumo Objetivos: analisar à luz da experiência positiva na perinatalidade, protocolos e diretrizes brasileiras acerca da atenção à saúde perinatal durante a pandemia da COVID-19. Métodos: pesquisa exploratória de análise documental. Na primeira fase, de 11 de abril a 14 de maio de 2020, foram realizadas as buscas com palavras-chave,encontrando-se 402 documentos. A segunda fase consistiu na leitura dos sete documentos selecionados e divisão do conteúdo nas categorias. A análise foi realizada à luz das orientações para a experiência positiva na perinatalidade da Organização Mundial da Saúde. Resultados: as diretrizes e protocolos fazem distinção do fluxo de atendimento para mulheres que apresentam ou não sintomas da COVID-19 e são atualizados à medida que novas evidências surgem.Constatou-se que dentre as diversas orientações para pré-natal, parto e puerpério, divergências em algumas categorias como clampeamento de cordão umbilical, contato pele a pele, banho do recém-nascido. Conclusões: a análise permitiu concluir que a maioria das recomendações estão em consonância com os preceitos para a experiência positiva na perinatalidade, mas carecem de adaptação ao contexto brasileiro.

Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.

BACKGROUND: Array-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained intellectual disability with or without dysmorphisms, multiple congenital anomalies, learning difficulties and autism spectrum disorders. Our study contributes to the genotype/phenotype correlation with the delineation of laboratory criteria which help to classify the different copy number variants (CNVs) detected. We clustered our findings into five classes ranging from an imbalance detected in a microdeletion/duplication syndrome region (class I) to imbalances that had previously been reported in normal subjects in the Database of Genomic Variants (DGV) and thus considered common variants (class IV). RESULTS: All the analyzed 1000 patients had at least one CNV independently of its clinical significance. Most of them, as expected, were alterations already reported in the DGV for normal individuals (class IV) or without known coding genes (class III-B). In approximately 14 % of the patients an imbalance involving known coding genes, but with partially overlapping or low frequency of CNVs described in the DGV was identified (class IIIA). In 10.4 % of the patients a pathogenic CNV that explained the phenotype was identified consisting of: 40 class I imbalances, 44 class II de novo imbalances and 21 class II X-chromosome imbalances in male patients. In 20 % of the patients a familial pathogenic or potentially pathogenic CNV, consisting of inherited class II imbalances, was identified that implied a family evaluation by the clinical geneticists. CONCLUSIONS: As this interpretation can be sometimes difficult, particularly if it is not possible to study the parents, using the proposed classification we were able to prioritize the multiple imbalances that are identified in each patient without immediately having to classify them as pathogenic or benign.