Pub Date : 2023-02-20eCollection Date: 2023-01-01DOI: 10.1590/1806-9282.20221564
Isabella Barcellos Leite, Nino Jose Wilson Moterani Junior, Vinicius Cesar Moterani, Laura Bresciani Bento Gonçalves Moterani, Francisco José Candido Dos Reis
Objective: This study aimed to evaluate how the pandemic might have affected the number of elective and urgent hysterectomies for benign gynecological pathologies in a single-care tertiary center in the State of São Paulo, Brazil, and to identify if there were any changes in the need for blood transfusions.
Methods: This is a single-center retrospective cohort study. It involved all non-puerperal and non-oncological hysterectomies from October 2018 to July 2021. Patients were divided into two groups, namely, the pandemic group (46 patients) and the control group (92 patients). Data were collected by reviewing the physical and electronic patient records. We carried out the statistical analysis using the RStudio software.
Results: The number of planned hysterectomies was 82 in the pre-pandemic group and 23 in the analysis group, representing a 71.9% decrease. When considering only urgent surgeries, 10 of them happened in the pre-pandemic group, while 23 occurred in the pandemic group, representing an increase of 130%.
Conclusion: Elective hysterectomies may improve the quality of life of women, reducing abnormal bleeding and pelvic pain. Treatment delay can worsen patients' physiological and biological conditions, such as lower labor production, humor, and social aspects, increasing costs to the healthcare system.
{"title":"A propensity score-matched retrospective cohort study of hysterectomies for benign disease during the COVID-19 pandemic.","authors":"Isabella Barcellos Leite, Nino Jose Wilson Moterani Junior, Vinicius Cesar Moterani, Laura Bresciani Bento Gonçalves Moterani, Francisco José Candido Dos Reis","doi":"10.1590/1806-9282.20221564","DOIUrl":"10.1590/1806-9282.20221564","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to evaluate how the pandemic might have affected the number of elective and urgent hysterectomies for benign gynecological pathologies in a single-care tertiary center in the State of São Paulo, Brazil, and to identify if there were any changes in the need for blood transfusions.</p><p><strong>Methods: </strong>This is a single-center retrospective cohort study. It involved all non-puerperal and non-oncological hysterectomies from October 2018 to July 2021. Patients were divided into two groups, namely, the pandemic group (46 patients) and the control group (92 patients). Data were collected by reviewing the physical and electronic patient records. We carried out the statistical analysis using the RStudio software.</p><p><strong>Results: </strong>The number of planned hysterectomies was 82 in the pre-pandemic group and 23 in the analysis group, representing a 71.9% decrease. When considering only urgent surgeries, 10 of them happened in the pre-pandemic group, while 23 occurred in the pandemic group, representing an increase of 130%.</p><p><strong>Conclusion: </strong>Elective hysterectomies may improve the quality of life of women, reducing abnormal bleeding and pelvic pain. Treatment delay can worsen patients' physiological and biological conditions, such as lower labor production, humor, and social aspects, increasing costs to the healthcare system.</p>","PeriodicalId":21234,"journal":{"name":"Revista da Associacao Medica Brasileira","volume":"69 3","pages":"458-462"},"PeriodicalIF":1.4,"publicationDate":"2023-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/2d/ee/1806-9282-ramb-69-03-0458.PMC10004295.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9138704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-02-20eCollection Date: 2023-01-01DOI: 10.1590/1806-9282.20220971
Kleber Prado Liberal Rodrigues, Ana Valadares, Hilka Alves Pereira, Quelly Schiave, Agnaldo Lopes Silva Filho
Objective: The aim of this study was to describe the anthropometric characteristics, eating habits, and lifestyle of non-village indigenous women living in Manaus, AM, and their association with hypertension.
Methods: This cross-sectional (descriptive-analytical) study was carried out from January 2020 to December 2021 using a questionnaire for clinical, sociodemographic, and behavioral data. Non-pregnant women who belonged to Parque das Tribos for more than a year, declared themselves indigenous, and were over 18 years of age were included in the study.
Results: In total, 21 ethnicities were identified, and 95 indigenous women were evaluated. The average age group was 36±12.1 years, the average height was 157 cm, and the body mass index was 28.8 kg/m2. The prevalence of systemic arterial hypertension was ±40%, and 68.5% had excess weight, with 29.1% having class I obesity. In all, 35.8% consumed a lot of salt, sugar, and industrialized foods, and 88.4% were sedentary.
Conclusion: Much of the sample presented excess weight, and almost all were sedentary. More than one-third had unappropriated eating habits. Hypertension was present in more than one-third of these indigenous women. There was an association between higher body mass index and hypertension. Knowing the characteristics of this group of non-village indigenous women may help determine the best health approach. The data demonstrate the necessity of preventive measures.
{"title":"Eating habits, anthropometry, lifestyle, and hypertension of a group of non-village indigenous women in Amazon, Brazil.","authors":"Kleber Prado Liberal Rodrigues, Ana Valadares, Hilka Alves Pereira, Quelly Schiave, Agnaldo Lopes Silva Filho","doi":"10.1590/1806-9282.20220971","DOIUrl":"10.1590/1806-9282.20220971","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to describe the anthropometric characteristics, eating habits, and lifestyle of non-village indigenous women living in Manaus, AM, and their association with hypertension.</p><p><strong>Methods: </strong>This cross-sectional (descriptive-analytical) study was carried out from January 2020 to December 2021 using a questionnaire for clinical, sociodemographic, and behavioral data. Non-pregnant women who belonged to Parque das Tribos for more than a year, declared themselves indigenous, and were over 18 years of age were included in the study.</p><p><strong>Results: </strong>In total, 21 ethnicities were identified, and 95 indigenous women were evaluated. The average age group was 36±12.1 years, the average height was 157 cm, and the body mass index was 28.8 kg/m2. The prevalence of systemic arterial hypertension was ±40%, and 68.5% had excess weight, with 29.1% having class I obesity. In all, 35.8% consumed a lot of salt, sugar, and industrialized foods, and 88.4% were sedentary.</p><p><strong>Conclusion: </strong>Much of the sample presented excess weight, and almost all were sedentary. More than one-third had unappropriated eating habits. Hypertension was present in more than one-third of these indigenous women. There was an association between higher body mass index and hypertension. Knowing the characteristics of this group of non-village indigenous women may help determine the best health approach. The data demonstrate the necessity of preventive measures.</p>","PeriodicalId":21234,"journal":{"name":"Revista da Associacao Medica Brasileira","volume":"69 3","pages":"398-403"},"PeriodicalIF":1.4,"publicationDate":"2023-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f3/6c/1806-9282-ramb-69-03-0398.PMC10004280.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9192303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-02-17eCollection Date: 2023-01-01DOI: 10.1590/1806-9282.20220801
Lijun Li
Objective: The aim of this study was to evaluate the clinical efficacy of crisaborole ointment in the treatment of vulvar leukoplakia.
Methods: A prospective, randomized controlled clinical trial was conducted, and a total of 100 patients with vulvar leukoplakia were divided into the observation group (n=50) treated with crisaborole ointment and the control group (n=50) treated with vitamin E. The symptom improvement and vulvar leukoplakia score after 2 weeks of treatment were analyzed, and the clinical efficacy of vulvar leukoplakia was evaluated by referring to the Guidelines for Clinical Research of New Drugs of Traditional Chinese Medicine (2018 Edition).
Results: After 2 weeks of treatment, the overall score of lesions in the observation group decreased, and the total treatment efficiency of patients in the observation group was 92% (46/50), which was significantly higher than that of 52% (26/50) in the control group P<0.05).
Conclusion: Crisaborole ointment can effectively treat vulvar leukoplakia, improving the symptoms and pathological changes of the vulvar skin.
{"title":"Clinical efficacy evaluation of crisaborole ointment in the treatment of vulvar leukoplakia.","authors":"Lijun Li","doi":"10.1590/1806-9282.20220801","DOIUrl":"10.1590/1806-9282.20220801","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to evaluate the clinical efficacy of crisaborole ointment in the treatment of vulvar leukoplakia.</p><p><strong>Methods: </strong>A prospective, randomized controlled clinical trial was conducted, and a total of 100 patients with vulvar leukoplakia were divided into the observation group (n=50) treated with crisaborole ointment and the control group (n=50) treated with vitamin E. The symptom improvement and vulvar leukoplakia score after 2 weeks of treatment were analyzed, and the clinical efficacy of vulvar leukoplakia was evaluated by referring to the Guidelines for Clinical Research of New Drugs of Traditional Chinese Medicine (2018 Edition).</p><p><strong>Results: </strong>After 2 weeks of treatment, the overall score of lesions in the observation group decreased, and the total treatment efficiency of patients in the observation group was 92% (46/50), which was significantly higher than that of 52% (26/50) in the control group P<0.05).</p><p><strong>Conclusion: </strong>Crisaborole ointment can effectively treat vulvar leukoplakia, improving the symptoms and pathological changes of the vulvar skin.</p>","PeriodicalId":21234,"journal":{"name":"Revista da Associacao Medica Brasileira","volume":"69 1","pages":"97-100"},"PeriodicalIF":1.2,"publicationDate":"2023-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/da/3c/1806-9282-ramb-69-01-0097.PMC9937623.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9326600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-02-17eCollection Date: 2023-01-01DOI: 10.1590/1806-9282.20221295
Pammela de Jesus, Juliana Zangirolami-Raimundo, Johnny de Araújo Miranda, Isabel Cristina Esposito Sorpreso, Rodrigo Daminello Raimundo
Background: Patients with coronavirus disease 2019 on automatic mechanical ventilation have greater heart rate modulation with greater parasympathetic modulation.
Objective: To analyze the autonomic modulation of heart rate in critically ill patients with coronavirus disease 2019 on invasive mechanical ventilation.
Methods: A cross-section study was carried out with 36 individuals divided into two groups. The control group included patients of both genders, in orotracheal intubation with invasive mechanical ventilation under controlled assisted mode, hospitalized in the intensive care unit for another 24 h. In the non-COVID group, patients diagnosed with coronavirus disease 2019 in the same condition mentioned in the control group.
Results: There was a significant increase in heart rate variability (standard deviation of all normal RR intervals recorded at an interval of time; p=0.001; triangular interpolation histogram of RR intervals; p=0.048; and SD2; p=0.014) in the coronavirus disease group compared to the non-COVID group. Successively, the parameters that demonstrate parasympathetic modulation are shown to be higher in the group of patients with coronavirus disease 2019 (root mean square of the square of differences between adjacent normal RR intervals in an interval of time; p<0.001; pNN50; p<0.001; SD1; p=0.002; and high frequency; p=0.022).
Conclusions: There was a greater autonomic modulation of heart rate with a greater parasympathetic modulation in patients with coronavirus disease 2019 on mechanical ventilation.
{"title":"Autonomic heart rate modulation in patients with coronavirus disease 2019 in mechanical ventilation.","authors":"Pammela de Jesus, Juliana Zangirolami-Raimundo, Johnny de Araújo Miranda, Isabel Cristina Esposito Sorpreso, Rodrigo Daminello Raimundo","doi":"10.1590/1806-9282.20221295","DOIUrl":"10.1590/1806-9282.20221295","url":null,"abstract":"<p><strong>Background: </strong>Patients with coronavirus disease 2019 on automatic mechanical ventilation have greater heart rate modulation with greater parasympathetic modulation.</p><p><strong>Objective: </strong>To analyze the autonomic modulation of heart rate in critically ill patients with coronavirus disease 2019 on invasive mechanical ventilation.</p><p><strong>Methods: </strong>A cross-section study was carried out with 36 individuals divided into two groups. The control group included patients of both genders, in orotracheal intubation with invasive mechanical ventilation under controlled assisted mode, hospitalized in the intensive care unit for another 24 h. In the non-COVID group, patients diagnosed with coronavirus disease 2019 in the same condition mentioned in the control group.</p><p><strong>Results: </strong>There was a significant increase in heart rate variability (standard deviation of all normal RR intervals recorded at an interval of time; p=0.001; triangular interpolation histogram of RR intervals; p=0.048; and SD2; p=0.014) in the coronavirus disease group compared to the non-COVID group. Successively, the parameters that demonstrate parasympathetic modulation are shown to be higher in the group of patients with coronavirus disease 2019 (root mean square of the square of differences between adjacent normal RR intervals in an interval of time; p<0.001; pNN50; p<0.001; SD1; p=0.002; and high frequency; p=0.022).</p><p><strong>Conclusions: </strong>There was a greater autonomic modulation of heart rate with a greater parasympathetic modulation in patients with coronavirus disease 2019 on mechanical ventilation.</p>","PeriodicalId":21234,"journal":{"name":"Revista da Associacao Medica Brasileira","volume":"69 1","pages":"181-185"},"PeriodicalIF":1.2,"publicationDate":"2023-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/75/69/1806-9282-ramb-69-01-0181.PMC9937621.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9326601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Objective: Colorectal cancer is the third most diagnosed malignant neoplasm in the world and the fourth leading cause of cancer mortality. The loss of muscle mass in oncological patients is the main aspect of cancer-related malnutrition. Associations between sarcopenia and poor outcomes, such as high postoperative mortality, chemotherapy toxicity, and reduced survival, have been recently described. The aim of this study was to prospectively assess the prevalence of preoperative sarcopenia in patients with colorectal cancer using validated methods to evaluate muscle strength, muscle mass, and physical performance.
Methodology: This study included patients with colorectal cancer undergoing oncological staging at a Cancer Center in Brazil from May 2019 to March 2020 who had images from abdominal computed tomography available for analysis of body composition. The muscle strength test, physical performance, referred fatigue, and clinical and nutritional data were evaluated.
Results: A total of 31 patients were included, and most were diagnosed with colon cancer (77.4%) and clinical stage II in 41.9% of cases. The prevalence of probable sarcopenia was 22.6%; of these patients, sarcopenia was confirmed in 19.4%, and ultimately, 9.7% of the sample was classified as severe sarcopenia. We did not find a significant association between the presence of sarcopenia in our sample and age, sex, tumor staging, nutritional characteristics, referred patient fatigue, or postoperative complications.
Conclusion: Considering the criteria established by the EWGSOP, the prevalence of preoperative sarcopenia in colorectal cancer patients was 19.4%.
{"title":"Preoperative evaluation of sarcopenia in patients with colorectal cancer: a prospective study.","authors":"Giovana Domingues Nunes, Letícia Zumpano Cardenas, Thais Manfrinato Miola, Juliana de Oliveira Souza, Letícia Nascimento Carniatto, Almir Galvão Vieira Bitencourt","doi":"10.1590/1806-9282.20220339","DOIUrl":"10.1590/1806-9282.20220339","url":null,"abstract":"<p><strong>Objective: </strong>Colorectal cancer is the third most diagnosed malignant neoplasm in the world and the fourth leading cause of cancer mortality. The loss of muscle mass in oncological patients is the main aspect of cancer-related malnutrition. Associations between sarcopenia and poor outcomes, such as high postoperative mortality, chemotherapy toxicity, and reduced survival, have been recently described. The aim of this study was to prospectively assess the prevalence of preoperative sarcopenia in patients with colorectal cancer using validated methods to evaluate muscle strength, muscle mass, and physical performance.</p><p><strong>Methodology: </strong>This study included patients with colorectal cancer undergoing oncological staging at a Cancer Center in Brazil from May 2019 to March 2020 who had images from abdominal computed tomography available for analysis of body composition. The muscle strength test, physical performance, referred fatigue, and clinical and nutritional data were evaluated.</p><p><strong>Results: </strong>A total of 31 patients were included, and most were diagnosed with colon cancer (77.4%) and clinical stage II in 41.9% of cases. The prevalence of probable sarcopenia was 22.6%; of these patients, sarcopenia was confirmed in 19.4%, and ultimately, 9.7% of the sample was classified as severe sarcopenia. We did not find a significant association between the presence of sarcopenia in our sample and age, sex, tumor staging, nutritional characteristics, referred patient fatigue, or postoperative complications.</p><p><strong>Conclusion: </strong>Considering the criteria established by the EWGSOP, the prevalence of preoperative sarcopenia in colorectal cancer patients was 19.4%.</p>","PeriodicalId":21234,"journal":{"name":"Revista da Associacao Medica Brasileira","volume":"69 2","pages":"222-227"},"PeriodicalIF":1.2,"publicationDate":"2023-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/5d/d9/1806-9282-ramb-69-02-0222.PMC9983475.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9473152","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-02-10eCollection Date: 2023-01-01DOI: 10.1590/1806-9282.20220293
Selda Celik, Meltem Demirgöz Bal, Meral Kelleci
Objective: This study aimed to investigate female sexual function in patients with type 1 diabetes by comparing female sexual function index scores between women with and without type 1 diabetes.
Methods: A total of 62 women with type 1 diabetes and 69 age-matched women without diabetes but with similar backgrounds were enrolled in the patient and control groups, respectively. All participants were sexually active and had no systemic diseases other than diabetes in the patient group.
Results: The frequency of female sexual dysfunction was significantly higher, and the mean female sexual function index score was significantly lower in women with diabetes compared to the control group (p=0.01). There was a significant relationship between sexual dysfunction and duration of diabetes, glycosylated hemoglobin test, and body mass index (p<0.05).
Conclusion: This study demonstrates that female sexual dysfunction is more common among women with type 1 diabetes than among women without type 1 diabetes. Patients with type 1 diabetes should be evaluated in terms of sexual health. Health professionals should give more attention to and provide guidance regarding sexual function in women with type 1 diabetes.
{"title":"Comparison of sexual functions in women with and without type 1 diabetes.","authors":"Selda Celik, Meltem Demirgöz Bal, Meral Kelleci","doi":"10.1590/1806-9282.20220293","DOIUrl":"10.1590/1806-9282.20220293","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to investigate female sexual function in patients with type 1 diabetes by comparing female sexual function index scores between women with and without type 1 diabetes.</p><p><strong>Methods: </strong>A total of 62 women with type 1 diabetes and 69 age-matched women without diabetes but with similar backgrounds were enrolled in the patient and control groups, respectively. All participants were sexually active and had no systemic diseases other than diabetes in the patient group.</p><p><strong>Results: </strong>The frequency of female sexual dysfunction was significantly higher, and the mean female sexual function index score was significantly lower in women with diabetes compared to the control group (p=0.01). There was a significant relationship between sexual dysfunction and duration of diabetes, glycosylated hemoglobin test, and body mass index (p<0.05).</p><p><strong>Conclusion: </strong>This study demonstrates that female sexual dysfunction is more common among women with type 1 diabetes than among women without type 1 diabetes. Patients with type 1 diabetes should be evaluated in terms of sexual health. Health professionals should give more attention to and provide guidance regarding sexual function in women with type 1 diabetes.</p>","PeriodicalId":21234,"journal":{"name":"Revista da Associacao Medica Brasileira","volume":"69 2","pages":"216-221"},"PeriodicalIF":1.2,"publicationDate":"2023-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/3d/21/1806-9282-ramb-69-02-0216.PMC9983465.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9080937","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-02-10eCollection Date: 2023-01-01DOI: 10.1590/1806-9282.20220929
Gülay Güleç Ceylan, Esra Habiloğlu, Büşranur Çavdarlı, Ebru Tuncez, Sule Bilen, Özlem Yayıcı Köken, C Nur Semerci Gündüz
Objective: Charcot-Marie-Tooth disease covers a group of inherited peripheral neuropathies. The aim of this study was to investigate the effect of targeted next-generation sequencing panels on the molecular diagnosis of Charcot-Marie-Tooth disease and its subtypes in routine clinical practice, and also to show the limitations and importance of next-generation sequencing in the diagnosis of Charcot-Marie-Tooth diseases.
Methods: This is a retrospective study. Three different molecular methods (multiplex ligation probe amplification, next-generation sequencing, and whole-exome sequencing) were used to detect the mutations related to Charcot-Marie-Tooth disease.
Results: In total, 64 patients (33 males and 31 females) with suspected Charcot-Marie-Tooth disease were analyzed for molecular etiology. In all, 25 (39%) patients were diagnosed by multiplex ligation probe amplification. With an extra 11 patients with normal PMP22 multiplex ligation probe amplification results that were consulted to our laboratory for further genetic analysis, a total of 50 patients underwent next-generation sequencing for targeted gene panels associated with Charcot-Marie-Tooth disease. Notably, 18 (36%) patients had pathogenic/likely pathogenic variants. Whole-exome sequencing was performed on five patients with normal next-generation sequencing results; the diagnostic yield by whole-exome sequencing was 80% and it was higher in the childhood group.
Conclusion: The molecular etiology in Charcot-Marie-Tooth disease patients can be determined according to pre-test evaluation, deciding the inheritance type with pedigree analysis, the clinical phenotype, and an algorithm for the genetic analysis. The presence of patients without a molecular diagnosis in all the literature suggests that there are new genes or mechanisms waiting to be discovered in the etiology of Charcot-Marie-Tooth disease.
{"title":"High diagnostic yield with algorithmic molecular approach on hereditary neuropathies.","authors":"Gülay Güleç Ceylan, Esra Habiloğlu, Büşranur Çavdarlı, Ebru Tuncez, Sule Bilen, Özlem Yayıcı Köken, C Nur Semerci Gündüz","doi":"10.1590/1806-9282.20220929","DOIUrl":"10.1590/1806-9282.20220929","url":null,"abstract":"<p><strong>Objective: </strong>Charcot-Marie-Tooth disease covers a group of inherited peripheral neuropathies. The aim of this study was to investigate the effect of targeted next-generation sequencing panels on the molecular diagnosis of Charcot-Marie-Tooth disease and its subtypes in routine clinical practice, and also to show the limitations and importance of next-generation sequencing in the diagnosis of Charcot-Marie-Tooth diseases.</p><p><strong>Methods: </strong>This is a retrospective study. Three different molecular methods (multiplex ligation probe amplification, next-generation sequencing, and whole-exome sequencing) were used to detect the mutations related to Charcot-Marie-Tooth disease.</p><p><strong>Results: </strong>In total, 64 patients (33 males and 31 females) with suspected Charcot-Marie-Tooth disease were analyzed for molecular etiology. In all, 25 (39%) patients were diagnosed by multiplex ligation probe amplification. With an extra 11 patients with normal PMP22 multiplex ligation probe amplification results that were consulted to our laboratory for further genetic analysis, a total of 50 patients underwent next-generation sequencing for targeted gene panels associated with Charcot-Marie-Tooth disease. Notably, 18 (36%) patients had pathogenic/likely pathogenic variants. Whole-exome sequencing was performed on five patients with normal next-generation sequencing results; the diagnostic yield by whole-exome sequencing was 80% and it was higher in the childhood group.</p><p><strong>Conclusion: </strong>The molecular etiology in Charcot-Marie-Tooth disease patients can be determined according to pre-test evaluation, deciding the inheritance type with pedigree analysis, the clinical phenotype, and an algorithm for the genetic analysis. The presence of patients without a molecular diagnosis in all the literature suggests that there are new genes or mechanisms waiting to be discovered in the etiology of Charcot-Marie-Tooth disease.</p>","PeriodicalId":21234,"journal":{"name":"Revista da Associacao Medica Brasileira","volume":"69 2","pages":"233-239"},"PeriodicalIF":1.2,"publicationDate":"2023-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/47/f1/1806-9282-ramb-69-02-0233.PMC9983476.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9088498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-01-01DOI: 10.1590/1806-9282.20221093
Michelle Dos Santos Severino Costa, Renato Santiago Gomez, Gustavo Rodrigues Costa Lages, Ariel de Freitas Quintão Américo, Joao Marcelo Guimarães de Abreu, Fernanda Ribeiro Faria, Letícia Maia Azevedo
Objective: This study aimed to evaluate the influence of chronic pain on functionality and its consequences on work and patient income.
Methods: A total of 103 patients from the Multidisciplinary Pain Center of the Clinics Hospital of Universidade Federal de Minas Gerais were interviewed between January 2020 and June 2021, applying questionnaires on mobile devices. Socioeconomic data, multidimensional characterization of pain, and instruments for assessing pain functionality and intensity were analyzed. Pain intensity was categorized as mild, moderate, or intense for comparative analysis. Ordinal logistic regression was used to identify risk factors and variables that jointly influence the outcome of pain intensity.
Results: The patients had a median age of 55 years, were predominantly female, married or in a stable relationship, white race, and completed high school. The median family income was R$2,200. Most patients were retired due to disability and pain-related causes. Functionality analysis showed severe disability directly associated with pain intensity. The financial impacts observed were correlated with the pain intensity of the patients. Age was a risk factor for pain intensity, while sex, family income, and duration of pain served as protective factors.
Conclusion: Chronic pain was associated with severe disability, decreased productivity, and exit from the labor market, with a negative impact on financial condition. Age, sex, family income, and duration of pain were directly associated with pain intensity.
{"title":"Evaluation of functionality and socioeconomic status of patients with chronic pain.","authors":"Michelle Dos Santos Severino Costa, Renato Santiago Gomez, Gustavo Rodrigues Costa Lages, Ariel de Freitas Quintão Américo, Joao Marcelo Guimarães de Abreu, Fernanda Ribeiro Faria, Letícia Maia Azevedo","doi":"10.1590/1806-9282.20221093","DOIUrl":"https://doi.org/10.1590/1806-9282.20221093","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to evaluate the influence of chronic pain on functionality and its consequences on work and patient income.</p><p><strong>Methods: </strong>A total of 103 patients from the Multidisciplinary Pain Center of the Clinics Hospital of Universidade Federal de Minas Gerais were interviewed between January 2020 and June 2021, applying questionnaires on mobile devices. Socioeconomic data, multidimensional characterization of pain, and instruments for assessing pain functionality and intensity were analyzed. Pain intensity was categorized as mild, moderate, or intense for comparative analysis. Ordinal logistic regression was used to identify risk factors and variables that jointly influence the outcome of pain intensity.</p><p><strong>Results: </strong>The patients had a median age of 55 years, were predominantly female, married or in a stable relationship, white race, and completed high school. The median family income was R$2,200. Most patients were retired due to disability and pain-related causes. Functionality analysis showed severe disability directly associated with pain intensity. The financial impacts observed were correlated with the pain intensity of the patients. Age was a risk factor for pain intensity, while sex, family income, and duration of pain served as protective factors.</p><p><strong>Conclusion: </strong>Chronic pain was associated with severe disability, decreased productivity, and exit from the labor market, with a negative impact on financial condition. Age, sex, family income, and duration of pain were directly associated with pain intensity.</p>","PeriodicalId":21234,"journal":{"name":"Revista da Associacao Medica Brasileira","volume":"69 2","pages":"308-313"},"PeriodicalIF":1.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/62/26/1806-9282-ramb-69-02-0308.PMC9983481.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9434177","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-01-01DOI: 10.1590/1806-9282.20221355
Cui-Ping Li, Lian-Ping He
Objective: Midwifery services are a cornerstone of maternal care but the trait creativity of midwifery students is unclear. The aim of this study was to assess trait creativity among midwives in Taizhou, China.
Methods: A cross-sectional online survey among midwives was conducted from July 20 to August 10, 2022. Trait creativity was assessed using the Williams Creativity Assessment Packet.
Results: A total of 300 survey respondents were studied. The mean scores for the imagination dimension (p=0.032) and the risk-taking dimension (p=0.049) differed across major groups. We further compared the scores of trait creativity dimensions after excluding male participants. Midwifery students only scored lower on the specific imagination dimension (p=0.024).
Conclusion: The imagination level of midwifery students certainly deserves further attention. Education workers should pay more attention to the imagination of midwifery students.
{"title":"Trait creativity among midwifery students: a cross-sectional study.","authors":"Cui-Ping Li, Lian-Ping He","doi":"10.1590/1806-9282.20221355","DOIUrl":"https://doi.org/10.1590/1806-9282.20221355","url":null,"abstract":"<p><strong>Objective: </strong>Midwifery services are a cornerstone of maternal care but the trait creativity of midwifery students is unclear. The aim of this study was to assess trait creativity among midwives in Taizhou, China.</p><p><strong>Methods: </strong>A cross-sectional online survey among midwives was conducted from July 20 to August 10, 2022. Trait creativity was assessed using the Williams Creativity Assessment Packet.</p><p><strong>Results: </strong>A total of 300 survey respondents were studied. The mean scores for the imagination dimension (p=0.032) and the risk-taking dimension (p=0.049) differed across major groups. We further compared the scores of trait creativity dimensions after excluding male participants. Midwifery students only scored lower on the specific imagination dimension (p=0.024).</p><p><strong>Conclusion: </strong>The imagination level of midwifery students certainly deserves further attention. Education workers should pay more attention to the imagination of midwifery students.</p>","PeriodicalId":21234,"journal":{"name":"Revista da Associacao Medica Brasileira","volume":"69 4","pages":"e20221355"},"PeriodicalIF":1.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/08/d7/1806-9282-ramb-69-04-e20221355.PMC10176656.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9451880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-01-01DOI: 10.1590/1806-9282.20221678
Tatiana Emy Nishimoto Kawanami Hamamoto, Alan Roberto Hatanaka, Marcelo Santucci França, Stéphanno Gomes Pereira Sarmento, Talita Micheletti Helfer, Roseli Mieko Yamamoto Nomura, Edward Araujo Júnior, Antonio Fernandes Moron
Objective: Fetal thymus involvement in prematurity has been studied, and this study aimed to evaluate its relationship with short cervix and amniotic fluid sludge in the second trimester of pregnancy.
Methods: In this prospective cross-sectional study, 79 pregnant women (19+0 to 24+6 weeks) were included, and cervical length and the presence or absence of amniotic fluid sludge were evaluated. In the three-vessel view of the fetal thorax, the thymus was identified, and its perimeter and transverse diameter were measured and transformed to a zeta score based on gestational age.
Results: Data from 22 women with short cervix (<25 mm) and 57 patients with normal cervix (≥25 mm) were analyzed. The transverse diameter of the fetal thymus was significantly greater in the short cervix group compared to that of the normal cervix group (z-score 2.708 vs. -0.043, p=0.003). There were no significant differences in the perimeter (z-score -0.039 vs. -0.071, p=0.890) or the transverse diameter (z-score 1.297 vs. -0.004, p=0.091) of the fetal thymus associated with the presence (n=21) or absence of sludge (n=58).
Conclusion: A short cervix is associated with an increased transverse diameter of the fetal thymus during the second trimester of gestation.
{"title":"An enlarged fetal thymus may be the initial response to intrauterine inflammation in pregnant women at risk for preterm birth.","authors":"Tatiana Emy Nishimoto Kawanami Hamamoto, Alan Roberto Hatanaka, Marcelo Santucci França, Stéphanno Gomes Pereira Sarmento, Talita Micheletti Helfer, Roseli Mieko Yamamoto Nomura, Edward Araujo Júnior, Antonio Fernandes Moron","doi":"10.1590/1806-9282.20221678","DOIUrl":"https://doi.org/10.1590/1806-9282.20221678","url":null,"abstract":"<p><strong>Objective: </strong>Fetal thymus involvement in prematurity has been studied, and this study aimed to evaluate its relationship with short cervix and amniotic fluid sludge in the second trimester of pregnancy.</p><p><strong>Methods: </strong>In this prospective cross-sectional study, 79 pregnant women (19+0 to 24+6 weeks) were included, and cervical length and the presence or absence of amniotic fluid sludge were evaluated. In the three-vessel view of the fetal thorax, the thymus was identified, and its perimeter and transverse diameter were measured and transformed to a zeta score based on gestational age.</p><p><strong>Results: </strong>Data from 22 women with short cervix (<25 mm) and 57 patients with normal cervix (≥25 mm) were analyzed. The transverse diameter of the fetal thymus was significantly greater in the short cervix group compared to that of the normal cervix group (z-score 2.708 vs. -0.043, p=0.003). There were no significant differences in the perimeter (z-score -0.039 vs. -0.071, p=0.890) or the transverse diameter (z-score 1.297 vs. -0.004, p=0.091) of the fetal thymus associated with the presence (n=21) or absence of sludge (n=58).</p><p><strong>Conclusion: </strong>A short cervix is associated with an increased transverse diameter of the fetal thymus during the second trimester of gestation.</p>","PeriodicalId":21234,"journal":{"name":"Revista da Associacao Medica Brasileira","volume":"69 5","pages":"e20221678"},"PeriodicalIF":1.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/66/e6/1806-9282-ramb-69-05-e20221678.PMC10176657.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9456588","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}