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1.
Int Urogynecol J ; 35(3): 703-712, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38416153

ABSTRACT

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.


Subject(s)
Quality of Life , Urinary Incontinence , Humans , Female , Brazil , Reproducibility of Results , Cross-Cultural Comparison , Urinary Incontinence/diagnosis , Surveys and Questionnaires , Psychometrics
2.
Int Urogynecol J ; 34(10): 2547-2555, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37285091

ABSTRACT

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.

3.
Int Urogynecol J ; 34(10): 2507-2511, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37222738

ABSTRACT

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.

4.
Sci Rep ; 12(1): 20346, 2022 11 27.
Article in English | MEDLINE | ID: mdl-36437245

ABSTRACT

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.


Subject(s)
COVID-19 , Mental Health , Humans , Female , Pandemics , COVID-19/epidemiology , Brazil/epidemiology , Longitudinal Studies , Sleep Quality , Depression/psychology , Quality of Life/psychology , Fatigue/psychology
5.
Am J Med Genet A ; 188(12): 3492-3504, 2022 12.
Article in English | MEDLINE | ID: mdl-36135330

ABSTRACT

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.


Subject(s)
Esophageal Atresia , Tracheoesophageal Fistula , Humans , Tracheoesophageal Fistula/diagnosis , Tracheoesophageal Fistula/genetics , Tracheoesophageal Fistula/complications , Esophageal Atresia/diagnosis , Esophageal Atresia/genetics , Esophageal Atresia/complications , Exome/genetics , Exome Sequencing
6.
Fisioter. Pesqui. (Online) ; 29(3): 252-257, jul.-set. 2022. tab
Article in Portuguese | LILACS-Express | LILACS | ID: biblio-1421479

ABSTRACT

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.

7.
Menopause ; 29(9): 1055-1061, 2022 09 01.
Article in English | MEDLINE | ID: mdl-35917548

ABSTRACT

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.


Subject(s)
Cross-Cultural Comparison , Pelvic Floor Disorders , Brazil , Female , Humans , Pelvic Floor Disorders/diagnosis , Psychometrics , Reproducibility of Results , Surveys and Questionnaires
8.
Int Urogynecol J ; 33(11): 3053-3060, 2022 11.
Article in English | MEDLINE | ID: mdl-34985535

ABSTRACT

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.


Subject(s)
Cross-Cultural Comparison , Urinary Incontinence , Brazil , Female , Humans , Reproducibility of Results , Surveys and Questionnaires , Urinary Incontinence/diagnosis
10.
Rev. Bras. Saúde Mater. Infant. (Online) ; 21(supl.1): 89-98, Feb. 2021. tab
Article in English | LILACS | ID: biblio-1155303

ABSTRACT

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.


Subject(s)
Humans , Female , Pregnancy , Prenatal Care , Primary Health Care , Perinatal Care , Maternal-Child Health Services , COVID-19/epidemiology , Brazil/epidemiology , Postpartum Period , Midwifery
11.
Eur J Obstet Gynecol Reprod Biol ; 255: 111-117, 2020 Dec.
Article in English | MEDLINE | ID: mdl-33113400

ABSTRACT

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.


Subject(s)
Cross-Cultural Comparison , Urinary Incontinence , Adolescent , Brazil , Female , Humans , Middle Aged , Psychometrics , Reproducibility of Results , Surveys and Questionnaires , Urinary Incontinence/diagnosis
12.
Obstet Gynecol Sci ; 63(5): 577-585, 2020 Sep.
Article in English | MEDLINE | ID: mdl-32933227

ABSTRACT

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.

13.
BMC Pregnancy Childbirth ; 20(1): 477, 2020 Aug 20.
Article in English | MEDLINE | ID: mdl-32819328

ABSTRACT

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.


Subject(s)
Parturition/psychology , Psychometrics/instrumentation , Translations , Adult , Brazil , Cross-Cultural Comparison , Factor Analysis, Statistical , Female , Humans , Labor, Obstetric/psychology , Patient Satisfaction , Postpartum Period/psychology , Pregnancy , Quality of Life , Reproducibility of Results , Surveys and Questionnaires , Young Adult
14.
Am J Med Genet A ; 182(7): 1637-1654, 2020 07.
Article in English | MEDLINE | ID: mdl-32319732

ABSTRACT

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.


Subject(s)
Heterogeneous-Nuclear Ribonucleoprotein U/genetics , Neurodevelopmental Disorders/etiology , Adolescent , Brain/diagnostic imaging , Child , Child, Preschool , Craniofacial Abnormalities/etiology , Female , Haploinsufficiency/genetics , Humans , Infant , Intellectual Disability/genetics , Male , Microcephaly/etiology , Neurodevelopmental Disorders/genetics , Pregnancy , Seizures/genetics , Syndrome
15.
Int Urogynecol J ; 31(8): 1497-1506, 2020 08.
Article in English | MEDLINE | ID: mdl-32062680

ABSTRACT

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.


Subject(s)
Cesarean Section , Pelvic Floor , Cesarean Section/adverse effects , Cross-Sectional Studies , Delivery, Obstetric , Female , Humans , Muscle Strength , Parturition , Postpartum Period , Pregnancy
16.
Int Urogynecol J ; 31(5): 999-1006, 2020 05.
Article in English | MEDLINE | ID: mdl-31414159

ABSTRACT

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.


Subject(s)
Fecal Incontinence , Pelvic Floor Disorders , Pelvic Organ Prolapse , Urinary Incontinence , Cross-Sectional Studies , Fecal Incontinence/epidemiology , Fecal Incontinence/etiology , Female , Humans , Pelvic Floor , Pelvic Floor Disorders/epidemiology , Pelvic Floor Disorders/etiology , Surveys and Questionnaires
17.
Rev. Bras. Saúde Mater. Infant. (Online) ; 18(2): 289-294, Apr.-June 2018. tab, graf
Article in English | LILACS | ID: biblio-1013090

ABSTRACT

Abstract Objectives: (i) to evaluate female sexual function in remote postpartum period within Brazilian women and (ii) to compare female sexual dysfunction in relation to the mode of delivery. Methods: in this cross-sectional study, two groups of remote postpartum women, who underwent vaginal delivery (n=30) and cesarean (n=48), were studied. The sexual function of participants was assessed through an online Brazilian version of FSFI between 45 and 180 days after delivery. Data were analyzed by descriptive and inferential statistics using Fisher exact test, and Student t test. Results: based on the data of 78 women who completed the online questionnaire, 78% (n=61) showed sexual dysfunction on remote postpartum period being that the FSFI mean score for vaginal postpartum was 22.17 and for cesarean postpartum, 21.12 (p=0.443). Conclusions: the majority of remote postpartum women showed sexual dysfunction. There was no significant difference found on female sexual function between modes of delivery.


Resumo Objetivos: (i) avaliar a função sexual feminina no puerpério remoto em mulheres brasileiras e (ii) comparar a disfunção sexual feminina em relação a via de parto. Métodos: neste estudo transversal, dois grupos de mulheres no puerpério remoto, que passaram por parto vaginal (n=30) e cesárea (n=48), foram estudados. A função sexual das participantes foi avaliada via online através da versão brasileira do FSFI entre 45 e 180 dias após o parto. Os dados foram analisados pela estatística descritiva e inferencial, utilizando o teste exato de Fisher e o teste t de Student. Resultados: com base nos dados de 78 mulheres que completaram o questionário online, 78% (n=61) apresentaram disfunção sexual no pós-parto remoto, sendo que o escore médio do FSFI foi de 22,17 para o pós-parto vaginal e 21,12 para o puerpério de cesárea, (p=0,443). Conclusões: a maior parte das mulheres no puerpério remoto apresentou disfunção sexual. Não foi encontrada diferença significativa na função sexual feminina entre os tipos de parto.


Subject(s)
Humans , Female , Pregnancy , Sexual Behavior , Sexual Dysfunction, Physiological , Postpartum Period , Sexual Health , Cesarean Section , Women's Health , Natural Childbirth
18.
ABCS health sci ; 42(2): 80-84, ago. 29, 2017. tab, graf
Article in Portuguese | LILACS | ID: biblio-849013

ABSTRACT

INTRODUÇÃO: A via de parto pode ser um fator determinante para o desenvolvimento de desconfortos no puerpério imediato. OBJETIVO: Identificar os desconfortos referidos pelas mulheres no puerpério imediato e compará-los entre as submetidas ao parto vaginal e à cesárea. MÉTODOS: Estudo analítico transversal desenvolvido em uma maternidade pública com levantamento de prontuários que continham informações da avaliação fisioterapêutica de puérperas atendidas no período de fevereiro a novembro de 2011. RESULTADOS: Foram incluídos 346 prontuários neste estudo. Queixas do puerpério imediato: dor abdominal (31,5%), edema (19,1%), lombalgia (18,2%), cervicalgia (9,8%) e desconforto em membros inferiores (5,8%). Cesárea foi a via de parto que acarretou maior desconforto, relacionando-se à presença de dor abdominal (p=0,001), cervicalgia (p=0,017) e edema (p=0,017). CONCLUSÃO: Os achados sugerem que as mulheres que passam por cesárea estão vulneráveis à maior morbidade durante o puerpério imediato em comparação ao parto vaginal.


INTRODUCTION: The type of delivery may be a determining fator for the development of discomfort in the immediate postpartum period. OBJECTIVE: To identify the discomfort related by women in the immediate postpartum period and to compare them among those submitted to vaginal delivery and cesarean. METHODS: Cross­sectional analytical study developed in a public maternity hospital with medical records that contained information of physical therapy evaluation of postpartum women attended from February to November 2011. RESULTS: A total of 346 records were included in this study. Immediate postpartum complaints: abdominal pain (31.5%), edema (19.1%), low back pain (18.2%), neck pain (9.8%) and discomfort in the lower limbs (5.8%). Cesarean was the mode of delivery that caused greater discomfort related to the presence of abdominal pain (p=0.001), neck pain (p=0.017) and edema (p=0.017). CONCLUSION: The findings suggest that women who undergo cesarean are vulnerable to greater morbidity compared to vaginal delivery during the immediate postpartum period.


Subject(s)
Humans , Female , Pregnancy , Pain , Physical Therapy Specialty , Parturition , Postpartum Period , Cross-Sectional Studies , Women's Health , Hospitals, Maternity
19.
Braz J Phys Ther ; 21(1): 37-43, 2017.
Article in English | MEDLINE | ID: mdl-28442073

ABSTRACT

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.


Subject(s)
Cesarean Section/methods , Delivery, Obstetric/methods , Pain/physiopathology , Parity/physiology , Postpartum Period/physiology , Adult , Cross-Sectional Studies , Delivery, Obstetric/standards , Female , Humans , Postpartum Period/ethnology
20.
Physiotherapy ; 103(4): 453-458, 2017 Dec.
Article in English | MEDLINE | ID: mdl-27956033

ABSTRACT

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.


Subject(s)
Cryotherapy/methods , Delivery, Obstetric/adverse effects , Episiotomy/adverse effects , Pain Management/methods , Perineum , Adult , Female , Humans , Postpartum Period , Young Adult
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