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A propensity score-matched retrospective cohort study of hysterectomies for benign disease during the COVID-19 pandemic. COVID-19大流行期间良性疾病子宫切除术的倾向评分匹配回顾性队列研究
IF 1.4 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-02-20 eCollection Date: 2023-01-01 DOI: 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.

目的:本研究旨在评估疫情如何影响巴西圣保罗州一家三级护理中心为良性妇科疾病进行的选择性和紧急子宫切除术的数量,并确定输血需求是否有任何变化。方法:这是一项单中心回顾性队列研究。它涉及2018年10月至2021年7月的所有非产褥期和非肿瘤性子宫切除术。患者被分为两组,即大流行组(46名患者)和对照组(92名患者)。通过查阅患者的物理和电子记录来收集数据。我们使用RStudio软件进行了统计分析。结果:计划中的子宫切除术数量在疫情前组为82例,在分析组为23例,减少了71.9%。仅考虑紧急手术时,其中10例发生在疫情前组,23例发生在大流行组,增加了130%。结论:选择性子宫切除术可提高妇女的生活质量,减少异常出血和盆腔疼痛。治疗延迟会恶化患者的生理和生物状况,如劳动生产率、幽默感和社会方面的降低,增加医疗系统的成本。
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引用次数: 0
Eating habits, anthropometry, lifestyle, and hypertension of a group of non-village indigenous women in Amazon, Brazil. 巴西亚马逊地区一群非村庄土著妇女的饮食习惯、人体测量、生活方式和高血压。
IF 1.4 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-02-20 eCollection Date: 2023-01-01 DOI: 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.

目的:本研究旨在描述居住在AM马瑙斯的非乡村土著妇女的人体测量特征、饮食习惯和生活方式,以及她们与高血压的关系。方法:这项横断面(描述性分析)研究于2020年1月至2021年12月进行,使用临床、社会人口学和行为数据问卷。属于部落公园一年多、自称土著、年龄超过18岁的非孕妇被纳入研究。结果:总共确定了21个种族,并对95名土著妇女进行了评估。平均年龄组为36±12.1岁,平均身高157厘米,体重指数为28.8 kg/m2。系统性动脉高压的患病率为±40%,68.5%患有超重,29.1%患有I级肥胖。总的来说,35.8%的人摄入了大量的盐、糖和工业化食品,88.4%的人久坐不动。结论:大部分受试者体重超标,几乎都是久坐不动的。超过三分之一的人有不受重视的饮食习惯。超过三分之一的土著妇女患有高血压。较高的体重指数与高血压之间存在相关性。了解这一非乡村土著妇女群体的特点可能有助于确定最佳的保健方法。这些数据表明了采取预防措施的必要性。
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引用次数: 1
Clinical efficacy evaluation of crisaborole ointment in the treatment of vulvar leukoplakia. 脆柏醇软膏治疗外阴白斑的临床疗效评估。
IF 1.2 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-02-17 eCollection Date: 2023-01-01 DOI: 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.

研究目的本研究旨在评估香脆硼酸软膏治疗外阴白斑的临床疗效:进行前瞻性随机对照临床试验,将100例外阴白斑患者分为使用脆柏醇软膏治疗的观察组(n=50)和使用维生素E治疗的对照组(n=50),分析治疗2周后的症状改善情况和外阴白斑评分,参照《中药新药临床研究指导原则(2018年版)》评价外阴白斑的临床疗效,结果:治疗2周后,观察组患者病灶总评分下降,观察组患者治疗总有效率为92%(46/50),明显高于对照组的52%(26/50)PC结论:克利博罗软膏能有效治疗外阴白斑,改善外阴皮肤的症状和病理变化。
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引用次数: 0
Autonomic heart rate modulation in patients with coronavirus disease 2019 in mechanical ventilation. 2019年机械通气中冠状病毒病患的自主心率调节。
IF 1.2 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-02-17 eCollection Date: 2023-01-01 DOI: 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.

背景:接受自动机械通气的2019年冠状病毒病患者心率调制幅度较大,副交感神经调制幅度较大.目的:分析接受有创机械通气的2019年冠状病毒病重症患者心率的自主神经调制情况:分析使用有创机械通气的2019年冠状病毒病重症患者心率的自主神经调节情况:方法:将 36 人分为两组进行横断面研究。对照组包括在控制辅助模式下进行气管插管有创机械通气的男女患者,在重症监护室住院24 h;非COVID组为诊断为冠状病毒病2019年最新注册送彩金的患者,情况与对照组相同:结果:与非COVID组相比,冠状病毒病组的心率变异性(在一个时间间隔内记录的所有正常RR间期的标准偏差;P=0.001;RR间期三角插值直方图;P=0.048;SD2;P=0.014)明显增加。冠状病毒病组 2019 年的副交感神经调节参数(时间间隔内相邻正常 RR 间期差异平方的均方根;p 结论:冠状病毒病组 2019 年的副交感神经调节参数更高:在接受机械通气的2019年冠状病毒病患者中,副交感神经对心率的自主调节作用更大。
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引用次数: 0
Preoperative evaluation of sarcopenia in patients with colorectal cancer: a prospective study. 结直肠癌患者术前肌少症评估:一项前瞻性研究。
IF 1.2 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-02-10 eCollection Date: 2023-01-01 DOI: 10.1590/1806-9282.20220339
Giovana Domingues Nunes, Letícia Zumpano Cardenas, Thais Manfrinato Miola, Juliana de Oliveira Souza, Letícia Nascimento Carniatto, Almir Galvão Vieira Bitencourt

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%.

目的:结直肠癌是世界上第三大确诊恶性肿瘤,也是第四大癌症死因。肿瘤患者肌肉质量的丧失是癌症相关营养不良的主要方面。最近有研究描述了肌肉疏松症与不良预后之间的关系,如术后死亡率高、化疗毒性和生存率降低等。本研究旨在采用有效的方法评估肌肉力量、肌肉质量和体能表现,对结直肠癌患者术前肌少症的发生率进行前瞻性评估:本研究纳入了2019年5月至2020年3月期间在巴西一家癌症中心接受肿瘤学分期的结直肠癌患者,这些患者的腹部计算机断层扫描图像可用于身体成分分析。对肌肉力量测试、体能表现、参考疲劳以及临床和营养数据进行了评估:共纳入 31 名患者,其中大多数被诊断为结肠癌(77.4%),41.9% 的病例处于临床 II 期。可能患有肌肉疏松症的比例为 22.6%;其中 19.4% 的患者被证实患有肌肉疏松症,最终有 9.7% 的样本被归类为严重肌肉疏松症。我们没有发现样本中出现的肌肉疏松症与年龄、性别、肿瘤分期、营养特征、转诊患者疲劳或术后并发症有明显关联:根据 EWGSOP 制定的标准,结直肠癌患者术前肌少症的发生率为 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}
引用次数: 0
Comparison of sexual functions in women with and without type 1 diabetes. 患有和未患有 1 型糖尿病的女性的性功能比较。
IF 1.2 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-02-10 eCollection Date: 2023-01-01 DOI: 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.

研究目的本研究旨在通过比较1型糖尿病患者和非1型糖尿病患者的女性性功能指数得分,研究1型糖尿病患者的女性性功能:患者组和对照组分别有 62 名 1 型糖尿病女性患者和 69 名年龄匹配但背景相似的非糖尿病女性患者。所有参与者均有性生活,患者组除糖尿病外无其他系统疾病:结果:与对照组相比,糖尿病妇女发生女性性功能障碍的频率明显较高,女性性功能指数平均值明显较低(P=0.01)。性功能障碍与糖尿病病程、糖化血红蛋白检测和体重指数之间存在明显关系(P=0.01):本研究表明,女性性功能障碍在 1 型糖尿病女性患者中比非 1 型糖尿病女性患者更常见。应从性健康角度对 1 型糖尿病患者进行评估。医务人员应更多地关注并指导 1 型糖尿病女性患者的性功能。
{"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}
引用次数: 0
High diagnostic yield with algorithmic molecular approach on hereditary neuropathies. 遗传性神经病的分子算法诊断率高。
IF 1.2 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-02-10 eCollection Date: 2023-01-01 DOI: 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.

目的:夏科-玛丽-图斯病是一组遗传性周围神经病。本研究旨在探讨在常规临床实践中,有针对性的新一代测序板对夏科-玛丽-牙病及其亚型的分子诊断的影响,同时说明新一代测序在夏科-玛丽-牙病诊断中的局限性和重要性:这是一项回顾性研究。方法:这是一项回顾性研究,采用三种不同的分子方法(多重连接探针扩增、新一代测序和全外显子组测序)检测与夏科-玛丽-牙病相关的突变:共对64名疑似夏科-玛丽-牙病患者(33男31女)进行了分子病因分析。共有 25 名患者(39%)通过多重连接探针扩增技术确诊。另外还有11名PMP22多重连接探针扩增结果正常的患者到我们的实验室进行了进一步的基因分析,共有50名患者接受了与夏科-玛丽-牙病相关的靶向基因面板的下一代测序。值得注意的是,18 名(36%)患者存在致病/可能致病变异。对5名下一代测序结果正常的患者进行了全基因组测序;全基因组测序的诊断率为80%,儿童组的诊断率更高:结论:夏克-玛丽-图斯病患者的分子病因可根据检测前评估、血统分析决定遗传类型、临床表型和遗传分析算法来确定。所有文献中都有未经分子诊断的患者,这表明在夏科-玛丽-牙病的病因学中还有新的基因或机制有待发现。
{"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}
引用次数: 0
Evaluation of functionality and socioeconomic status of patients with chronic pain. 慢性疼痛患者的功能和社会经济地位评估。
IF 1.4 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-01-01 DOI: 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.

目的:本研究旨在评估慢性疼痛对功能的影响及其对工作和患者收入的影响。方法:在2020年1月至2021年6月期间,对来自米纳斯吉拉斯州联邦大学附属医院多学科疼痛中心的103名患者进行移动设备问卷调查。分析了社会经济数据、疼痛的多维特征以及评估疼痛功能和强度的工具。疼痛强度分为轻度、中度和强烈进行比较分析。使用有序逻辑回归来确定共同影响疼痛强度结果的危险因素和变量。结果:患者中位年龄为55岁,以女性为主,已婚或有稳定的关系,白人,高中毕业。家庭收入中位数为2200雷亚尔。大多数患者因残疾和与疼痛有关的原因而退休。功能分析显示严重的残疾与疼痛强度直接相关。观察到的财务影响与患者的疼痛强度相关。年龄是疼痛强度的危险因素,而性别、家庭收入和疼痛持续时间是保护因素。结论:慢性疼痛与严重的残疾、生产力下降和退出劳动力市场有关,并对经济状况产生负面影响。年龄、性别、家庭收入、疼痛持续时间与疼痛强度直接相关。
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引用次数: 0
Trait creativity among midwifery students: a cross-sectional study. 助产学学生特质创造力的横断面研究。
IF 1.4 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-01-01 DOI: 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.

目的:助产服务是孕产妇保健的基石,但助产专业学生的特质创造力尚不清楚。本研究的目的是评估台州助产士的特质创造力。方法:于2022年7月20日至8月10日对助产士进行横断面在线调查。特质创造力采用Williams创造力评估包进行评估。结果:调查对象共300人。想象维度(p=0.032)和冒险维度(p=0.049)的平均得分在主要组之间存在差异。在排除男性参与者后,我们进一步比较了特质创造力维度的得分。助产学学生仅在具体想象维度上得分较低(p=0.024)。结论:助产学学生的想象力水平值得进一步关注。教育工作者应该更加重视助产学学生的想象力。
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引用次数: 2
An enlarged fetal thymus may be the initial response to intrauterine inflammation in pregnant women at risk for preterm birth. 胎儿胸腺肿大可能是有早产风险的孕妇对宫内炎症的最初反应。
IF 1.4 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Pub Date : 2023-01-01 DOI: 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.

目的:研究胎儿胸腺受累与早产的关系,探讨其与妊娠中期宫颈短缩及羊水淤积的关系。方法:在这项前瞻性横断面研究中,包括79名孕妇(19+0至24+6周),并评估宫颈长度和羊水污泥的存在或不存在。在胎儿胸的三血管视图中,胸腺被识别,胸腺周长和横向直径被测量,并根据胎龄转化为zeta评分。结果:来自22名短子宫颈妇女的数据(结论:短子宫颈与妊娠中期胎儿胸腺横向直径增加有关。
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Revista da Associacao Medica Brasileira
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