Ferah Kazanci, Zerrin Yılmaz Çelik, Mert Polat, Ferhat Karademir, Ozlem Erdem, Feride İffet Şahin, Mehmet Anil Onan
{"title":"Homologous recombination deficiency gene panel analysis results in synchronous endometrial and ovarian cancers.","authors":"Ferah Kazanci, Zerrin Yılmaz Çelik, Mert Polat, Ferhat Karademir, Ozlem Erdem, Feride İffet Şahin, Mehmet Anil Onan","doi":"10.1590/1806-9282.20240534","DOIUrl":"10.1590/1806-9282.20240534","url":null,"abstract":"<p><strong>Objective: </strong>The objective of this study was to analyze the genetic alterations of tumors within the scope of the homologous recombination deficiency gene panel in patients diagnosed with synchronous endometrial ovarian cancer who have been followed for over 5 years using next-generation sequencing.</p><p><strong>Methods: </strong>DNA was isolated from the patient's formalin-fixed, paraffin-embedded tissue blocks. Next-generation sequencing was performed using the Illumina capture-based sequencing method. Samples were sequenced using the Sophia HR Solution DNA Kit.</p><p><strong>Results: </strong>Seven patients were included in this study. The ratios of likely pathogenic (LP)/pathogenic (P) somatic mutations in ATM (serine/threonine kinase or Ataxia-telangiectasia mutated gene), BRCA2 (breast cancer type 2 susceptibility gene), BARD1 (BRCA1 associated RING domain 1), TP53 (tumor protein p53), BIRP1 (BRCA1-interacting helicase 1 gene), PALB2 (partner and localizer of BRCA2), and CHECK2 were 21 (48.8%), 8 (18.6%), 5 (11.6%), 3 (6.9%), 2 (4.6%), 2 (4.6%), and 2 (4.6%), respectively, in endometrium, and the ratios of somatic mutations in ATM, BRCA2, TP53, BARD1, RAD54L (DNA repair/recombination protein like), BIRP1, and RAD51D (RAD51 recombinase paralog D) were 24 (60%), 6 (15%), 5 (12.5%), 2 (5%), 2 (5%), 1 (2.5%), and 1 (2.5%), respectively, in ovary. In endometrioid-synchronous endometrial ovarian cancer cases, P/LP mutations were observed in ATM and CHECK2 genes in endometrium and ATM, BRCA2, and TP53 genes in ovary. In two non-endometrioid-synchronous endometrial ovarian cancer cases, CHEK2 (checkpoint kinase 2) mutations were observed in endometrium and ATM and TP53 mutations in ovary, whereas in one case, P/LP mutations in ATM and TP53 genes were common in both tissues.</p><p><strong>Conclusion: </strong>Pathogenic variations confirming the diagnosis of synchronous endometrial ovarian cancer with genetic alterations were identified in all but one case. ATM gene mutation emerged as the most common alteration and has a potential association with a favorable prognosis.</p>","PeriodicalId":94194,"journal":{"name":"Revista da Associacao Medica Brasileira (1992)","volume":"70 10","pages":"e20240534"},"PeriodicalIF":0.0,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11444207/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142368124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"How did coronavirus disease 2019 affect autonomic balance in young individuals? Analysis by heart rate variability.","authors":"İmran Ceren, Fadime Bozduman Habip","doi":"10.1590/1806-9282.20231789","DOIUrl":"10.1590/1806-9282.20231789","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to demonstrate the effect of coronavirus disease 2019 on the cardiovascular autonomic system using heart rate variability in young individuals.</p><p><strong>Methods: </strong>The study was designed retrospectively by scanning the 24-h Holter electrocardiography records of patients who applied to the Ankara Abdurrahman Yurtaslan Oncology Education and Research Hospital Cardiology outpatient clinic. The study group consisted of 492 patients under the age of 40 years, who did not have additional comorbidities or medication use and had prolonged symptoms after coronavirus disease 2019 during the pandemic. The control group, including 401 patients, was determined during the pre-pandemic period (before December 2019). Heart rate variability parameters were evaluated by scanning the 24-h Holter electrocardiography records of the patients and compared with the non-coronavirus disease 2019 group.</p><p><strong>Results: </strong>The median age of participants was 30 years. Standard deviation of normal RR intervals (SDNN) ≤100 ms was more prevalent in the study group (27 (6.7%) vs 73 (14.8%), p<0.001). In univariate logistic regression analysis, the presence of coronavirus disease 2019 [(OR 2.41, 95%CI 1.52-3.83), p<0.001] and age [(OR 1.04, 95%CI 1.01-1.07), p=0.016] had a significant effect on the probability of SDNN≤100. In multivariate logistic regression analysis, the presence of coronavirus disease 2019 [(OR 2.42, 95%CI 1.52-3.85), p<0.001] and age [(OR 2.42, 95%CI 1.52-3.85), p=0.016] had a significant effect on the probability of SDNN≤100. Frequency domain measures such as, high-frequency values were significantly higher in the study group (p=0.029). The study group's low-frequency/high frequency ratio was significantly lower (p=0.019). The low-frequency/high-frequency ratio's cut-off value was ≤2.77. for determining the differentiation between coronavirus disease 2019 positive and negative cases in the receiver operating characteristic analysis. The sensitivity rate was 80.7%. The area under the curve value is 0.546 (p=0.019).</p><p><strong>Conclusion: </strong>This study showed that coronavirus disease 2019 causes reduced heart rate variability and increased parasympathetic activity in young patients. This may explain the prolonged symptoms after coronavirus disease 2019 infection.</p>","PeriodicalId":94194,"journal":{"name":"Revista da Associacao Medica Brasileira (1992)","volume":"70 10","pages":"e20231789"},"PeriodicalIF":0.0,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11444206/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142368125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Inferior vena cava collapsibility index and trauma severity in elderly fall injuries.","authors":"Melike Erden, Huseyin Cahit Halhalli, Asim Enes Ozbek","doi":"10.1590/1806-9282.20240606","DOIUrl":"10.1590/1806-9282.20240606","url":null,"abstract":"<p><strong>Objective: </strong>Falls are a serious cause of morbidity and mortality among older people. One of the underlying causes of falls is dehydration. Therefore, ultrasonography has become an essential tool for evaluating volume status in the emergency department. However, the effect of volume status on falls in older people has not been evaluated before. The aim of this study was to determine the relationship between the inferior vena cava collapsibility index and the injury severity score in older patients who presented with fall-related injuries to the emergency department.</p><p><strong>Methods: </strong>A total of 66 patients were included in the study. The injury severity score was used as the trauma severity score, and the Edmonton Frail Scale was used as the frailty scale. Volume status was evaluated with inferior vena cava collapsibility index. The primary outcome measure was defined as the correlation between inferior vena cava collapsibility index and injury severity score. Secondary outcome measures were defined as the effect of inferior vena cava collapsibility index and injury severity score on hospitalization and mortality.</p><p><strong>Results: </strong>There was no significant correlation between injury severity score and inferior vena cava collapsibility index (p=0.342). Neither inferior vena cava collapsibility index nor injury severity score was an indicator of the mortality of these patients. However, injury severity score was an indicator of hospitalization. The mean Edmonton Frail Scale score was an indicator of mortality among older people who experienced falls (p=0.002).</p><p><strong>Conclusion: </strong>Inferior vena cava collapsibility index cannot be used to predict trauma severity in older patients who have experienced falls admitted to the emergency department.</p>","PeriodicalId":94194,"journal":{"name":"Revista da Associacao Medica Brasileira (1992)","volume":"70 10","pages":"e20240606"},"PeriodicalIF":0.0,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11444203/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142368126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The relationship between body image and sexual satisfaction in women who have undergone hysterectomy.","authors":"Elmas Gökçe, Sevda Karakaş","doi":"10.1590/1806-9282.20240776","DOIUrl":"10.1590/1806-9282.20240776","url":null,"abstract":"<p><strong>Objective: </strong>This study aims to examine the relationship between body image and the level of sexual satisfaction in women who have undergone a hysterectomy.</p><p><strong>Methods: </strong>This descriptive study utilized a relational screening model. Conducted between June 2023 and March 2024, the study included a total of 300 sexually active women who had undergone a hysterectomy 6 months prior. Data were collected using a personal information form, the Golombok-Rust Sexual Satisfaction Scale, and the Body Image Scale through face-to-face interviews lasting approximately 20-30 min.</p><p><strong>Results: </strong>The average age of the participating women was 44.4±10.55 years. Of the participants, 96.7% were married and 42.4% had entered menopause. The average score on the Body Image Scale was 81.2±3.8, and the average score on the Golombok-Rust Sexual Satisfaction Scale was 33.0±15.1. A positive significant relationship was found between body image and sexual satisfaction (p<0.05). There was also a statistically significant positive relationship between the total scores on the Body Image Scale and the Golombok-Rust Sexual Satisfaction Scale with age and frequency of sexual intercourse (p=0.049, p<0.001, p<0.001, p=0.047, and p=0.014). It was determined that as the age and frequency of sexual intercourse increased, the levels of body image and sexual satisfaction also increased.</p><p><strong>Conclusion: </strong>Our study found that women's self-image is negatively affected, and their level of sexual satisfaction decreases following a hysterectomy.</p>","PeriodicalId":94194,"journal":{"name":"Revista da Associacao Medica Brasileira (1992)","volume":"70 10","pages":"e20240776"},"PeriodicalIF":0.0,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11444225/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142368130","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The effect of diets with different inflammatory scores on inflammation and sleep in obese subjects: a randomized controlled trial.","authors":"Hakan Toğuç, Hande Öngün Yılmaz, Bülent Yaprak","doi":"10.1590/1806-9282.20240588","DOIUrl":"10.1590/1806-9282.20240588","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to investigate the effect of different dietary inflammatory index diets on inflammatory markers, anthropometric measurements, and sleep quality in obese subjects.</p><p><strong>Methods: </strong>This study was conducted in a public hospital in Turkey between November 2021 and May 2022. Participants with pro-inflammatory dietary habits were included in the study. Randomly divided into two groups of 33 participants, they were subjected to an anti-inflammatory diet or a control diet for 8 weeks. The study evaluated the anthropometric parameters, inflammatory biomarkers, and sleep quality indices of the diet groups.</p><p><strong>Results: </strong>Significant reductions in body mass index were observed in both groups, more marked in the anti-inflammatory diet cohort. C-reactive protein levels, indicative of inflammation, also decreased substantially in both groups, with a more marked reduction in the anti-inflammatory diet cohort. Despite the improvement in sleep quality in both groups, the variation was not statistically significant.</p><p><strong>Conclusion: </strong>This study demonstrates the importance of anti-inflammatory diets in nutritional strategies for obesity by reducing body mass index and inflammation.</p>","PeriodicalId":94194,"journal":{"name":"Revista da Associacao Medica Brasileira (1992)","volume":"70 10","pages":"e20240588"},"PeriodicalIF":0.0,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11444204/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142368128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The quality of sleep in systemic sclerosis patients is determined not only by the underlying disease but also by many internal and external factors.","authors":"Josef Finsterer","doi":"10.1590/1806-9282.20240946","DOIUrl":"10.1590/1806-9282.20240946","url":null,"abstract":"","PeriodicalId":94194,"journal":{"name":"Revista da Associacao Medica Brasileira (1992)","volume":"70 10","pages":"e20240946"},"PeriodicalIF":0.0,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11444202/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142368129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Platelet parameters may not be related to new-onset atrial fibrillation after coronary bypass surgery.","authors":"Cengiz Beyan","doi":"10.1590/1806-9282.20240729","DOIUrl":"https://doi.org/10.1590/1806-9282.20240729","url":null,"abstract":"","PeriodicalId":94194,"journal":{"name":"Revista da Associacao Medica Brasileira (1992)","volume":"70 9","pages":"e20240729"},"PeriodicalIF":0.0,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11415066/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142305194","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mustafa Emre Duygulu, Esra Aşık, Mehmet Akif Tükenmez, Gizem Teoman, Atila Yıldırım, Evren Fidan
{"title":"Effect of Ki-67 proliferation index on survival in large cell neuroendocrine carcinoma of the lung.","authors":"Mustafa Emre Duygulu, Esra Aşık, Mehmet Akif Tükenmez, Gizem Teoman, Atila Yıldırım, Evren Fidan","doi":"10.1590/1806-9282.20240398","DOIUrl":"https://doi.org/10.1590/1806-9282.20240398","url":null,"abstract":"<p><strong>Objective: </strong>Large cell neuroendocrine carcinoma of the lung is a rare type of lung cancer. There is a limited number of studies on clinical and histopathological characteristics that are effective in survival. The aim of this study was to investigate the relationship between histopathological and clinical characteristics, mainly Ki-67 proliferation index, and survival in patients diagnosed with large cell neuroendocrine carcinoma of the lung.</p><p><strong>Methods: </strong>The data of 38 patients followed up with the diagnosis of large cell neuroendocrine carcinoma of the lung were evaluated. The mean Ki-67 value was determined to be 65.8% (±20.8). The patients' clinical characteristics and survival times were compared according to the cut-off value determined for Ki-67 index.</p><p><strong>Results: </strong>When median overall survival times were compared, it was seen that overall survival was numerically lower in patients aged 65 years and over, in tumors located on the right side, in cases who were in the metastatic stage at diagnosis, whose Ki-67 index was 65% and above, who did not receive chemotherapy, who did not undergo curative surgery, and in patients with chronic diseases (p>0.05). In the Kaplan-Meier analysis, the median overall survival was determined to be 22.2 months (95%CI 21.7-22.7) in the patients with Ki-67<65%, while it was found to be 20.3 months (95%CI 4.5-36.2) in the patients with Ki-67≥65% (p=0.351).</p><p><strong>Conclusion: </strong>Our study identified subgroups with decreased survival in large cell neuroendocrine carcinoma of lung patients. Studies including a larger number of patients are needed to identify the prognostic importance of these clinical and histopathological characteristics.</p>","PeriodicalId":94194,"journal":{"name":"Revista da Associacao Medica Brasileira (1992)","volume":"70 9","pages":"e20240398"},"PeriodicalIF":0.0,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11404992/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142305186","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cancer diagnosis in the post-coronavirus disease era: correspondence.","authors":"Hinpetch Daungsupawong, Viroj Wiwanitkit","doi":"10.1590/1806-9282.20240851","DOIUrl":"https://doi.org/10.1590/1806-9282.20240851","url":null,"abstract":"","PeriodicalId":94194,"journal":{"name":"Revista da Associacao Medica Brasileira (1992)","volume":"70 9","pages":"e20240851"},"PeriodicalIF":0.0,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11415059/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142305185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}