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The use of innovative targeted angiogenic therapies for ischemic diabetic foot ulcer repair: From nanomedicine and microRNAs toward hyperbaric oxygen therapy. 利用创新的靶向血管生成疗法修复缺血性糖尿病足溃疡:从纳米药物和微rna到高压氧治疗。
Pub Date : 2023-01-01 DOI: 10.1097/j.pbj.0000000000000187
Fatigracy Canha, Raquel Soares

Diabetes mellitus is a metabolic disease that has a high prevalence worldwide and is characterized by chronic hyperglycemia leading to the development of vascular or nonvascular complications. It is these complications that result in huge mortality rates in patients with diabetes, especially vascular ones. This work focuses on diabetic foot ulcers (DFUs), which are one of the most common complications of type 2 diabetes mellitus (T2DM) and cause significant morbidity, mortality, and healthcare costs. The healing of DFUs is hindered by deregulation of nearly all phases of this process because of the hyperglycemic environment. Although therapies currently exist to treat a patient with DFU, they are proving inadequate. In the present work, angiogenesis is highlighted as part of the proliferative phase, which, when diminished, plays an important role in the impaired healing of DFU and other chronic wounds. Therefore, the search for new therapeutic strategies targeting angiogenesis is of great interest. In this study, we provide an overview of molecular targets with therapeutic potential and therapies that act on angiogenesis. To this end, a search of articles in PubMed and Scopus databases from 2018 to 2021 was performed to review angiogenesis as a therapeutic target for DFU. Growth factors, microRNAs, and signaling pathways were investigated as molecular targets, and negative pressure, hyperbaric oxygen therapy, and the use of nanomedicine were explored as therapies.

糖尿病是一种全球高患病率的代谢性疾病,其特点是慢性高血糖导致血管或非血管并发症的发生。正是这些并发症导致了糖尿病患者,尤其是血管性糖尿病患者的高死亡率。本研究的重点是糖尿病足溃疡(DFUs),这是2型糖尿病(T2DM)最常见的并发症之一,引起显著的发病率、死亡率和医疗费用。由于高血糖环境,该过程几乎所有阶段的解除管制都阻碍了DFUs的愈合。虽然目前存在治疗DFU患者的疗法,但它们被证明是不够的。在目前的工作中,血管生成被强调为增殖阶段的一部分,当增殖阶段减少时,在DFU和其他慢性伤口的愈合受损中起着重要作用。因此,寻找针对血管生成的新治疗策略是人们非常感兴趣的。在本研究中,我们概述了具有治疗潜力的分子靶点和作用于血管生成的治疗方法。为此,检索了2018年至2021年PubMed和Scopus数据库中的文章,回顾了血管生成作为DFU的治疗靶点。研究了生长因子、microrna和信号通路作为分子靶点,并探索了负压、高压氧治疗和纳米药物的使用作为治疗方法。
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引用次数: 0
A rare case of kidney loss: urogenital tuberculosis. 罕见的肾丢失病例:泌尿生殖器结核。
Pub Date : 2023-01-01 DOI: 10.1097/j.pbj.0000000000000201
Mehmet Serkan Özkent, Mehmet Balasar, Mehmet Giray Sönmez, Muzaffer Tansel Kilinç, Pembe Oltulu, Eren Erol, Yunus Emre Göger
To the Editor Tuberculosis (Tbc) is a granulomatous disease caused by Mycobacterium tuberculosis bacillus (M. tuberculosis). Although it is primarily seen in the lungs, other organs may also be affected with a lower prevalence. The second most common prevalence of extrapulmonary Tbc cases, nearly 27% of extrapulmonary Tbc cases, are seen in the urogenital system. The most important mechanism introduced in urogenital Tbc pathophysiology is the hematogenous spreading after primary lung infection. After the initial settlement of bacillary in kidney parenchyma, the bacillary may not cause an infection if the host defense is satisfactory or the virulence of bacillary is low. However, the presence of these factors (low host defense or increased bacillary virulence) may cause parenchymal infiltration and granulomatous infection resulting in fibrosis. In addition, caseous necrosis in papilla and calyxes and chronic abscesses in renal parenchyma may also occur as the disease progresses. In addition to stricture in the ureteropelvic junction and ureter, it may spread to the bladder and cause bladder fibrosis and caseous necrosis. Apart from these, urogenital Tbc may be presented with epididymis and prostate involvement in male patients and the involvement of the fallopian tube, cervix, endometrium, and ovaries in female patients. Urogenital Tbc formation and development may take long periods after primary infection. The diagnosis is hard due to no specific findings. Thus, it may cause severe outcomes. The aim of this work was to present an urinary Tbc case with nonspecific symptoms for a long time and caused organ loss. Our case was a 32-year-old female patient who was admitted to the urology outpatient clinic with severe lower urinary system symptoms such as dysuria, frequency, and urgency present for 1 year. She had no additional diseases and surgery history. No pathological findings were observed in the physical examination. Because there was leukocyte positivity in urine analysis, urinary culture was taken and antibiotic treatment was started. Kidney function tests were normal in the blood biochemistry of the patient who had no bacteria growth in the urinary culture. TheHbsAg, antiHIV, and anti-HCV were negative. Since the symptoms recurred, urinary system ultrasonography was taken. Bladder irregularity, bladder wall thickening, hydronephrosis, and parenchymal thinning in the left kidney were observed in the urinary system ultrasonography.Contrasted abdominopelvic computed tomography (CT)was performed. There was left renal hydronephrosis and no ureteral dilatation in abdominopelvic CT. Asymmetrical wall thickeningwas observed in right posterior and left lateralwall in the bladder (Fig. 1). Afterward, intravenous pyelography showed no function in the left kidney (Fig. 2). In the Tc-99m DTPA, radioactivity involvement was not observed in the left kidney. It was considered that this appearance could correspond to a nonfunctional left kidney. The right kid
{"title":"A rare case of kidney loss: urogenital tuberculosis.","authors":"Mehmet Serkan Özkent,&nbsp;Mehmet Balasar,&nbsp;Mehmet Giray Sönmez,&nbsp;Muzaffer Tansel Kilinç,&nbsp;Pembe Oltulu,&nbsp;Eren Erol,&nbsp;Yunus Emre Göger","doi":"10.1097/j.pbj.0000000000000201","DOIUrl":"https://doi.org/10.1097/j.pbj.0000000000000201","url":null,"abstract":"To the Editor Tuberculosis (Tbc) is a granulomatous disease caused by Mycobacterium tuberculosis bacillus (M. tuberculosis). Although it is primarily seen in the lungs, other organs may also be affected with a lower prevalence. The second most common prevalence of extrapulmonary Tbc cases, nearly 27% of extrapulmonary Tbc cases, are seen in the urogenital system. The most important mechanism introduced in urogenital Tbc pathophysiology is the hematogenous spreading after primary lung infection. After the initial settlement of bacillary in kidney parenchyma, the bacillary may not cause an infection if the host defense is satisfactory or the virulence of bacillary is low. However, the presence of these factors (low host defense or increased bacillary virulence) may cause parenchymal infiltration and granulomatous infection resulting in fibrosis. In addition, caseous necrosis in papilla and calyxes and chronic abscesses in renal parenchyma may also occur as the disease progresses. In addition to stricture in the ureteropelvic junction and ureter, it may spread to the bladder and cause bladder fibrosis and caseous necrosis. Apart from these, urogenital Tbc may be presented with epididymis and prostate involvement in male patients and the involvement of the fallopian tube, cervix, endometrium, and ovaries in female patients. Urogenital Tbc formation and development may take long periods after primary infection. The diagnosis is hard due to no specific findings. Thus, it may cause severe outcomes. The aim of this work was to present an urinary Tbc case with nonspecific symptoms for a long time and caused organ loss. Our case was a 32-year-old female patient who was admitted to the urology outpatient clinic with severe lower urinary system symptoms such as dysuria, frequency, and urgency present for 1 year. She had no additional diseases and surgery history. No pathological findings were observed in the physical examination. Because there was leukocyte positivity in urine analysis, urinary culture was taken and antibiotic treatment was started. Kidney function tests were normal in the blood biochemistry of the patient who had no bacteria growth in the urinary culture. TheHbsAg, antiHIV, and anti-HCV were negative. Since the symptoms recurred, urinary system ultrasonography was taken. Bladder irregularity, bladder wall thickening, hydronephrosis, and parenchymal thinning in the left kidney were observed in the urinary system ultrasonography.Contrasted abdominopelvic computed tomography (CT)was performed. There was left renal hydronephrosis and no ureteral dilatation in abdominopelvic CT. Asymmetrical wall thickeningwas observed in right posterior and left lateralwall in the bladder (Fig. 1). Afterward, intravenous pyelography showed no function in the left kidney (Fig. 2). In the Tc-99m DTPA, radioactivity involvement was not observed in the left kidney. It was considered that this appearance could correspond to a nonfunctional left kidney. The right kid","PeriodicalId":74479,"journal":{"name":"Porto biomedical journal","volume":"8 1","pages":"e201"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/1a/7c/pj9-8-e201.PMC10194725.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9502274","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}
引用次数: 0
Aqueous extract from urucum (Bixa orellana L.): antimicrobial, antioxidant, and healing activity. 芡实水提物:抗菌、抗氧化和愈合活性。
Pub Date : 2023-01-01 DOI: 10.1097/j.pbj.0000000000000183
Victor A Franklin, Edgar M Bach Hi, Nilsa S Y Wadt, Erna E Bach

Background: Annatto was obtained from seed B orellana (urucum) and is commonly used in food and cosmetic industries. The objective of this study was to identify the antimicrobial and antioxidant activity of the aqueous extract from urucum seeds and its skin healing potential in exposed cutaneous lesions in rats treated with the gel containing the extract. Methods: Three types of extracts from seeds were made using chloroform, sodium hydroxide, water, and estimated bixin and norbixin. In the presence of antioxidants, antibacterial was observed and then evaluated the skin healing in rats using aqueous extract. Results: Annatto dyes have been evaluated in all three extracts. When the seeds were extracted with chloroform, bixin was detected. If extraction was performed by sodium hydroxide or water, norbixin was detected. For healing use, 10% of aqueous extract was mixed in a gel base. The finding obtained from the antioxidant assay revealed that the activities of the water extract could be used as a source of polyphenolic compounds. In chloroform extract, the antioxidant was not effective because it has weak radical scavengers. With respect to antimicrobial activity, it has been observed that aqueous extract has more effect. For skin healing assay, a total of 3 study groups were tested: negative control group (gel base), positive control group (fibrinase), and test group (gel with urucum aqueous extract). After 7 days of treatment, animals treated with fibrinase had an improvement of 4.7% in total wound area when compared with the negative control while those treated with urucum aqueous extract presented an improvement of 51.55% in comparison. After 14 days, the total wound area of animals within the test group had a decrease of 94.97% when compared with the negative control (gel base) results while the control group presented an improvement of 56.58% in total wound area. These results indicate that wounds treated with urucum aqueous extract were 38.39% more efficient than fibrinase, a cream used for skin healing. Conclusions: It is possible to conclude that gel with aqueous extract is effective in skin healing in rats, being used as a phytotherapic, besides possessing antioxidant and antimicrobial activity.

背景:红木是由红木种子B orellana (urucum)中提取的,在食品和化妆品工业中广泛使用。本研究的目的是鉴定芡实种子水提物的抗微生物和抗氧化活性,以及其对大鼠暴露皮肤损伤的愈合潜力。方法:采用氯仿、氢氧化钠、水、估计比必辛和去甲比辛制备三种种子提取物。在抗氧化剂存在的情况下,观察其抗菌作用,并评价其水提物对大鼠皮肤愈合的影响。结果:对三种提取物中红木色素的含量进行了评价。当用氯仿提取种子时,检测到碧馨。如果用氢氧化钠或水提取,则检测到去氧毕辛。用于治疗,10%的水提取物混合在凝胶基中。从抗氧化实验中获得的发现表明,水提取物的活性可以作为多酚化合物的来源。在氯仿提取物中,由于其自由基清除能力弱,抗氧化剂效果不佳。在抗菌活性方面,已观察到水提物的效果更好。皮肤愈合试验分为3个研究组:阴性对照组(凝胶基)、阳性对照组(纤维酶)和试验组(尿素水提物凝胶)。治疗7 d后,与阴性对照相比,纤维酶组动物的总创面面积改善了4.7%,而与阴性对照相比,荷花水提物组动物的创面面积改善了51.55%。14 d后,试验组动物总创面面积比阴性对照组(凝胶基)减少94.97%,对照组动物总创面面积提高56.58%。这些结果表明,与纤维酶(一种用于皮肤愈合的乳膏)相比,用葡萄树水提取物治疗伤口的效率高出38.39%。结论:水提物凝胶除具有抗氧化和抗菌活性外,还具有良好的皮肤愈合作用,可作为植物治疗药物。
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引用次数: 1
Dietary interventions using Facebook: a systematic review. 使用Facebook的饮食干预:一项系统综述。
Pub Date : 2023-01-01 DOI: 10.1097/j.pbj.0000000000000185
Vera Cunha, Susana Montenegro, Patrícia Padrão

Introduction: Facebook has been used to change food behaviors. The aim of this review was to synthesize the knowledge about the effect of nutritional interventions delivered through Facebook in dietary intake, food and nutritional knowledge and behavior, and weight management.

Methods: PubMed, Web of Science, Ovid, Scopus, and Cochrane electronic databases were searched for intervention studies that were published from 2013 to 2019. This systematic review protocol was formulated based on Cochrane Guidelines for Systematic Reviews of Health Promotion and Public Health Interventions and Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA).

Results: Of the 4824 identified studies, 116 were considered for eligibility and 18 met the inclusion criteria of this review. Of these, 13 were randomized controlled trials, 2 were quasiexperimental studies, 2 were case studies, and 1 was a nonrandomized controlled trial. Interventions had a positive nutritional-related impact in most of the studies (78%).

Discussion: Positive changes in dietary intake, food and nutritional knowledge and behavior, and weight management were observed in studies that used Facebook as a component of intervention. Facebook effectiveness by its own was difficult to evaluate considering that is frequently a component of intervention. The heterogeneity of the outcome variables between studies did not allow concluding about the effectiveness of this tool.

简介:Facebook已经被用来改变饮食习惯。本综述的目的是综合通过Facebook提供的营养干预在饮食摄入、食物和营养知识和行为以及体重管理方面的影响。方法:检索PubMed、Web of Science、Ovid、Scopus和Cochrane电子数据库,检索2013 - 2019年发表的干预研究。本系统评价方案是根据Cochrane健康促进与公共卫生干预系统评价指南和系统评价与荟萃分析首选报告项目(PRISMA)制定的。结果:纳入的4824项研究中,116项符合纳入标准,18项符合纳入标准。其中13项为随机对照试验,2项为准实验研究,2项为病例研究,1项为非随机对照试验。在大多数研究中(78%),干预措施具有积极的营养相关影响。讨论:在使用Facebook作为干预手段的研究中,观察到饮食摄入、食物和营养知识和行为以及体重管理的积极变化。Facebook本身的有效性很难评估,因为它经常是干预的一个组成部分。由于研究结果变量的异质性,无法对该工具的有效性做出结论。
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引用次数: 0
Candidates selection for oocyte donation in a public gamete bank-Predictive value of the anti-Müllerian hormone. 在公共配子库中选择卵母细胞捐献的候选人抗<s:1>勒氏杆菌激素的预测价值。
Pub Date : 2023-01-01 DOI: 10.1097/j.pbj.0000000000000199
Emídio Vale-Fernandes, Márcia Barreiro, Mariana P Monteiro

Background: Infertility treatments with oocyte donation are becoming frequent. Recruitment of oocyte donors is a demanding and costly process and therefore of crucial importance. The selection of the oocyte donors undergoes a rigorous evaluation process of the candidates with routine measurement of the anti-Müllerian hormone (AMH) levels (ovarian reserve test). Our aim was to assess whether AMH levels could act as a good marker as tool to select the donor candidates and correlate them with the ovarian response to stimulation with a gonadotropin-releasing hormone antagonist protocol as well as to identify and validate the appropriate AMH level threshold by correlating it with the number of oocytes retrieved.

Methods: A retrospective analysis of the oocyte donors' clinical records was performed.

Results: The mean age of the participants was 27 years. The ovarian reserve evaluation showed a mean AMH of 5.20 ng/mL. An average number of 16 oocytes was retrieved (12 mature oocytes MII). AMH levels showed a statistically significant positive correlation with the number of total oocytes retrieved. A threshold value of AMH = 3.2 ng/mL predictive of the retrieval <12 oocytes (areas under the curve, 0.7364; 95% confidence interval: 0.529-0.944) was identified by receiver operating characteristic curve. Using this cutoff, the normal response (12 oocytes) was predicted with a sensitivity of 77% and a specificity of 60%.

Conclusions: The measurement of AMH may be a determining factor in the choice of the oocyte donor candidates to maximize the response to requests from beneficiaries who require donor oocytes to perform assisted reproductive technique cycles.

背景:捐献卵母细胞治疗不孕症越来越常见。招募卵母细胞供体是一个要求高且成本高的过程,因此至关重要。卵母细胞供体的选择要经过严格的评估过程,包括常规测量抗勒氏激素(AMH)水平(卵巢储备试验)。我们的目的是评估AMH水平是否可以作为一个很好的标记,作为选择供体候选人的工具,并将其与卵巢对促性腺激素释放激素拮抗剂方案刺激的反应相关联,以及通过将AMH水平与回收的卵母细胞数量相关联来确定和验证适当的AMH水平阈值。方法:回顾性分析卵母细胞供体的临床资料。结果:参与者平均年龄为27岁。卵巢储备评估显示平均AMH为5.20 ng/mL。平均取出卵母细胞16个(成熟卵母细胞12个)。AMH水平与总卵母细胞数量呈显著正相关。结论:AMH的测定可能是选择候选卵母细胞供体的一个决定性因素,以最大限度地响应需要供体卵母细胞进行辅助生殖技术周期的受益人的要求。
{"title":"Candidates selection for oocyte donation in a public gamete bank-Predictive value of the anti-Müllerian hormone.","authors":"Emídio Vale-Fernandes,&nbsp;Márcia Barreiro,&nbsp;Mariana P Monteiro","doi":"10.1097/j.pbj.0000000000000199","DOIUrl":"https://doi.org/10.1097/j.pbj.0000000000000199","url":null,"abstract":"<p><strong>Background: </strong>Infertility treatments with oocyte donation are becoming frequent. Recruitment of oocyte donors is a demanding and costly process and therefore of crucial importance. The selection of the oocyte donors undergoes a rigorous evaluation process of the candidates with routine measurement of the anti-Müllerian hormone (AMH) levels (ovarian reserve test). Our aim was to assess whether AMH levels could act as a good marker as tool to select the donor candidates and correlate them with the ovarian response to stimulation with a gonadotropin-releasing hormone antagonist protocol as well as to identify and validate the appropriate AMH level threshold by correlating it with the number of oocytes retrieved.</p><p><strong>Methods: </strong>A retrospective analysis of the oocyte donors' clinical records was performed.</p><p><strong>Results: </strong>The mean age of the participants was 27 years. The ovarian reserve evaluation showed a mean AMH of 5.20 ng/mL. An average number of 16 oocytes was retrieved (12 mature oocytes MII). AMH levels showed a statistically significant positive correlation with the number of total oocytes retrieved. A threshold value of AMH = 3.2 ng/mL predictive of the retrieval <12 oocytes (areas under the curve, 0.7364; 95% confidence interval: 0.529-0.944) was identified by receiver operating characteristic curve. Using this cutoff, the normal response (12 oocytes) was predicted with a sensitivity of 77% and a specificity of 60%.</p><p><strong>Conclusions: </strong>The measurement of AMH may be a determining factor in the choice of the oocyte donor candidates to maximize the response to requests from beneficiaries who require donor oocytes to perform assisted reproductive technique cycles.</p>","PeriodicalId":74479,"journal":{"name":"Porto biomedical journal","volume":"8 1","pages":"e199"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b8/7c/pj9-8-e199.PMC10194772.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9502279","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}
引用次数: 1
Copy number variations on chromosome 2: impact on human phenotype, a cross-sectional study. 2号染色体拷贝数变异:对人类表型的影响,一项横断面研究。
Pub Date : 2023-01-01 DOI: 10.1097/j.pbj.0000000000000198
Beatriz Sousa, Ana Grangeia, Joel Pinto, Helena Santos, Sofia Dória

Background: Copy number variations (CNVs) on chromosome 2 are associated with a variety of human diseases particularly neurodevelopmental disorders. Array comparative genomic hybridization (aCGH) constitutes an added value for the diagnosis of neurodevelopmental or neuropsychiatric diseases. This study aims to establish a genotype-phenotype correlation, reporting CNVs on the chromosome 2, contributing for a better characterization of the molecular significance of rare CNVs in this chromosome.

Methods: To accomplish this, a cross-sectional study was performed using genetic information included in a database of the Department of Genetics of the Faculty of Medicine and clinical data from Hospital database. CNVs were classified as pathogenic, benign, variants of unknown significance, and likely pathogenic or likely benign, in accordance with the ACMG Standards and Guidelines.

Results: A total of 2897 patients were studied using aCGH, 32 with CNVs on chromosome 2, 24 classified as likely pathogenic, and 8 as pathogenic. Genomic intervals with a higher incidence were one 2p25.3 and 2q13 regions.

Conclusions: This study will help to establish new genotype-phenotype correlations, allowing update of databases and literature and the improvement of diagnosis and genetic counseling which could be an added value for prenatal genetic counseling.

背景:2号染色体上的拷贝数变异(CNVs)与多种人类疾病,特别是神经发育障碍有关。阵列比较基因组杂交(aCGH)对神经发育或神经精神疾病的诊断具有附加价值。本研究旨在建立基因型-表型相关性,报道2号染色体上的CNVs,有助于更好地表征该染色体上罕见的CNVs的分子意义。方法:为了实现这一目标,利用医学院遗传学系数据库中的遗传信息和医院数据库中的临床数据进行了横断面研究。根据ACMG标准和指南,CNVs被分为致病性、良性、意义不明的变异、可能致病性或可能良性。结果:aCGH共对2897例患者进行了研究,其中32例在2号染色体上有CNVs, 24例为可能致病性,8例为致病性。发病率较高的基因组间隔为2p25.3和2q13区域。结论:本研究将有助于建立新的基因型-表型相关性,更新数据库和文献,提高诊断和遗传咨询水平,为产前遗传咨询提供附加价值。
{"title":"Copy number variations on chromosome 2: impact on human phenotype, a cross-sectional study.","authors":"Beatriz Sousa,&nbsp;Ana Grangeia,&nbsp;Joel Pinto,&nbsp;Helena Santos,&nbsp;Sofia Dória","doi":"10.1097/j.pbj.0000000000000198","DOIUrl":"https://doi.org/10.1097/j.pbj.0000000000000198","url":null,"abstract":"<p><strong>Background: </strong>Copy number variations (CNVs) on chromosome 2 are associated with a variety of human diseases particularly neurodevelopmental disorders. Array comparative genomic hybridization (aCGH) constitutes an added value for the diagnosis of neurodevelopmental or neuropsychiatric diseases. This study aims to establish a genotype-phenotype correlation, reporting CNVs on the chromosome 2, contributing for a better characterization of the molecular significance of rare CNVs in this chromosome.</p><p><strong>Methods: </strong>To accomplish this, a cross-sectional study was performed using genetic information included in a database of the Department of Genetics of the Faculty of Medicine and clinical data from Hospital database. CNVs were classified as pathogenic, benign, variants of unknown significance, and likely pathogenic or likely benign, in accordance with the ACMG Standards and Guidelines.</p><p><strong>Results: </strong>A total of 2897 patients were studied using aCGH, 32 with CNVs on chromosome 2, 24 classified as likely pathogenic, and 8 as pathogenic. Genomic intervals with a higher incidence were one 2p25.3 and 2q13 regions.</p><p><strong>Conclusions: </strong>This study will help to establish new genotype-phenotype correlations, allowing update of databases and literature and the improvement of diagnosis and genetic counseling which could be an added value for prenatal genetic counseling.</p>","PeriodicalId":74479,"journal":{"name":"Porto biomedical journal","volume":"8 1","pages":"e198"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ec/b3/pj9-8-e198.PMC10194716.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9873576","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}
引用次数: 0
Stage I endometrial adenocarcinoma with a vaginal nodule-the importance of differential diagnosis. 伴有阴道结节的I期子宫内膜腺癌鉴别诊断的重要性。
Pub Date : 2022-11-01 DOI: 10.1097/j.pbj.0000000000000168
Isabel Rodrigues, André Laranja, Luísa Carvalho, Lurdes Salgado
Endometrial cancer is a common malignancy of the female reproductive system. Most are early-stage but can spread locally and metastize (also to the vaginal wall). We report 2 clinical cases of post-menopausal women with early-stage endometrial cancer, after hysterectomy, who were offered adjuvant brachytherapy as monotherapy according to pathological stage and histology. On gynecological examination before brachytherapy, a vaginal nodule was identified in both patients, clinically compatible with a metastatic lesion. However, a biopsy was requested and histology classified both lesions as vaginal leiomyomas. The patients then proceeded with their initial strategy. It is therefore imperative to obtain histological confirmation of any new finding that may restage and alter the planned adjuvant treatment, to better adjust treatment to the correct stage, predict prognosis, and avoid iatrogeny. In this article, we highlight the importance of a thorough differential diagnosis and biopsy confirmation of any vaginal lesion that may change the adjuvant management of an early-stage endometrial tumor, and review published literature on vaginal leiomyomas.
{"title":"Stage I endometrial adenocarcinoma with a vaginal nodule-the importance of differential diagnosis.","authors":"Isabel Rodrigues,&nbsp;André Laranja,&nbsp;Luísa Carvalho,&nbsp;Lurdes Salgado","doi":"10.1097/j.pbj.0000000000000168","DOIUrl":"https://doi.org/10.1097/j.pbj.0000000000000168","url":null,"abstract":"Endometrial cancer is a common malignancy of the female reproductive system. Most are early-stage but can spread locally and metastize (also to the vaginal wall). We report 2 clinical cases of post-menopausal women with early-stage endometrial cancer, after hysterectomy, who were offered adjuvant brachytherapy as monotherapy according to pathological stage and histology. On gynecological examination before brachytherapy, a vaginal nodule was identified in both patients, clinically compatible with a metastatic lesion. However, a biopsy was requested and histology classified both lesions as vaginal leiomyomas. The patients then proceeded with their initial strategy. It is therefore imperative to obtain histological confirmation of any new finding that may restage and alter the planned adjuvant treatment, to better adjust treatment to the correct stage, predict prognosis, and avoid iatrogeny. In this article, we highlight the importance of a thorough differential diagnosis and biopsy confirmation of any vaginal lesion that may change the adjuvant management of an early-stage endometrial tumor, and review published literature on vaginal leiomyomas.","PeriodicalId":74479,"journal":{"name":"Porto biomedical journal","volume":"7 6","pages":"e168"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158858/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9430257","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}
引用次数: 0
Transfusion practices in patients with advanced cancer: a retrospective study in a palliative care service. 晚期癌症患者的输血实践:一项姑息治疗服务的回顾性研究。
Pub Date : 2022-11-01 DOI: 10.1097/j.pbj.0000000000000195
Sara Marote, Joana Marinho, Maria Cândida Silva, José Ferraz Gonçalves

Background: Anemia is highly prevalent in patients with advanced cancer and adversely affects the quality of life. There are limited data on the frequency, clinical utility, and effectiveness of red blood cell (RBC) transfusions, and no randomized controlled clinical trials or clinical practice guidelines are available. The aim of this study was to evaluate clinician practices on RBC transfusion in an oncologic palliative care service and its impact on patients' symptoms, adverse events, and overall survival.

Methods: This is a retrospective analysis of all patients with advanced cancer who received RBC transfusions admitted for 3 years. Preblood counts, the reason for transfusion, subjective benefit, and objective outcomes were listed.

Results: We identified 179 patients who underwent RBC transfusions. The mean age was 67 years, and 60% were male. We found a total of 435 RBC units in 301 transfusion episodes. Asthenia/fatigue was the most frequent symptom (68%). The mean pretransfusion hemoglobin (Hb) was 6.85 g/dL, and 48% of patients had a Hb above 7 g/dL. The symptomatic benefit was achieved in 36% of patients. Adverse events were reported in 4%, with a 30-day survival rate of 57%. A statistically significant association was found between Eastern Cooperative Oncology Group performance status (ECOG-PS) and the symptomatic benefit (P = .005). Hb level pretransfusion, ECOG-PS, and symptomatic benefits with transfusions were significantly associated with survival.

Conclusion: This study suggests that patients with advanced cancer with a higher functioning level may benefit more from RBC transfusion. Post-transfusion symptomatic benefits and pretransfusion ECOG-PS and Hb levels are independent predictors of survival. Further studies are needed to develop validated measures of objective functional changes to evaluate transfusions' clinical impact and identify patients most likely to benefit from it.

背景:贫血在晚期癌症患者中非常普遍,并对生活质量产生不利影响。关于红细胞(RBC)输血的频率、临床效用和有效性的数据有限,也没有随机对照临床试验或临床实践指南。本研究的目的是评估临床医生在肿瘤姑息治疗服务中输血的做法及其对患者症状、不良事件和总生存率的影响。方法:回顾性分析所有接受红细胞输血3年的晚期癌症患者。列出了血液前计数、输血原因、主观获益和客观结果。结果:我们确定了179例接受红细胞输血的患者。平均年龄67岁,男性占60%。我们在301次输血中发现了435个红细胞单位。虚弱/疲劳是最常见的症状(68%)。平均输血前血红蛋白(Hb)为6.85 g/dL, 48%的患者Hb高于7 g/dL。36%的患者实现了症状缓解。不良事件发生率为4%,30天生存率为57%。Eastern Cooperative Oncology Group绩效状态(ECOG-PS)与症状获益之间存在统计学意义(P = 0.005)。输血前Hb水平、ECOG-PS和输血后的症状改善与生存显著相关。结论:本研究提示红细胞功能水平较高的晚期癌症患者可能从输血中获益更多。输血后症状获益和输血前ECOG-PS和Hb水平是生存的独立预测因子。需要进一步的研究来开发客观功能变化的有效措施,以评估输血的临床影响,并确定最有可能从中受益的患者。
{"title":"Transfusion practices in patients with advanced cancer: a retrospective study in a palliative care service.","authors":"Sara Marote,&nbsp;Joana Marinho,&nbsp;Maria Cândida Silva,&nbsp;José Ferraz Gonçalves","doi":"10.1097/j.pbj.0000000000000195","DOIUrl":"https://doi.org/10.1097/j.pbj.0000000000000195","url":null,"abstract":"<p><strong>Background: </strong>Anemia is highly prevalent in patients with advanced cancer and adversely affects the quality of life. There are limited data on the frequency, clinical utility, and effectiveness of red blood cell (RBC) transfusions, and no randomized controlled clinical trials or clinical practice guidelines are available. The aim of this study was to evaluate clinician practices on RBC transfusion in an oncologic palliative care service and its impact on patients' symptoms, adverse events, and overall survival.</p><p><strong>Methods: </strong>This is a retrospective analysis of all patients with advanced cancer who received RBC transfusions admitted for 3 years. Preblood counts, the reason for transfusion, subjective benefit, and objective outcomes were listed.</p><p><strong>Results: </strong>We identified 179 patients who underwent RBC transfusions. The mean age was 67 years, and 60% were male. We found a total of 435 RBC units in 301 transfusion episodes. Asthenia/fatigue was the most frequent symptom (68%). The mean pretransfusion hemoglobin (Hb) was 6.85 g/dL, and 48% of patients had a Hb above 7 g/dL. The symptomatic benefit was achieved in 36% of patients. Adverse events were reported in 4%, with a 30-day survival rate of 57%. A statistically significant association was found between Eastern Cooperative Oncology Group performance status (ECOG-PS) and the symptomatic benefit (<i>P</i> = .005). Hb level pretransfusion, ECOG-PS, and symptomatic benefits with transfusions were significantly associated with survival.</p><p><strong>Conclusion: </strong>This study suggests that patients with advanced cancer with a higher functioning level may benefit more from RBC transfusion. Post-transfusion symptomatic benefits and pretransfusion ECOG-PS and Hb levels are independent predictors of survival. Further studies are needed to develop validated measures of objective functional changes to evaluate transfusions' clinical impact and identify patients most likely to benefit from it.</p>","PeriodicalId":74479,"journal":{"name":"Porto biomedical journal","volume":"7 6","pages":"e195"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/3d/6e/pj9-7-e195.PMC10158856.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9430259","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}
引用次数: 0
Outbreak of KPC-producing Klebsiella pneumoniae at a Portuguese university hospital: Epidemiological characterization and containment measures. 葡萄牙大学医院爆发产kpc肺炎克雷伯菌:流行病学特征和控制措施
Pub Date : 2022-11-01 DOI: 10.1097/j.pbj.0000000000000186
David Peres, Paulo Figueiredo, Paulo Andrade, Nuno Rocha-Pereira, Cláudia Carvalho, Rita Ferraz, Raquel Duro, Arnaldo Dias, Abel Gomes, Cláudia Pereira, Gisélia Braga, Virginia Pereira, Lino Azevedo, Edgar Moniz, Manuela Ribeiro, Eugénia Ferreira, Vera Manageiro, José Teixeira, Tiago Guimarães, Manuela Caniça, Carlos Alves

Background: KPC-producing K pneumoniae (KPC-Kp) is a public health problem with important clinical and epidemiological implications. We describe an outbreak of KPC-Kp at vascular surgery and neurosurgery wards in a central hospital in Porto, Portugal.

Methods: A case of KPC-Kp was considered to be a patient positive for KPC-Kp with strong epidemiological plausibility of having acquired this microorganism in the affected wards and/or with genetic relationship ≥92% between KPC-Kp isolates. Active surveillance cultures (ASCs) and real-time polymerase chain reaction were used for the detection of carbapenemase genes through rectal swab in a selected population. Molecular analysis was performed using pulsed-field gel electrophoresis at the National Reference Laboratory. Patient risk factors were collected from the electronic medical record system. Information regarding outbreak containment strategy was collected from the Infection Control Unit records.

Results: Of the 16 cases, 11 (69%) were identified through active screening, representing 1.4% of the total 766 ASCs collected. The most frequent risk factors identified were previous admission (63%), antibiotic exposure in the past 6 months (50%), and immunodepression (44%). The length of stay until KPC-Kp detection was high (0-121 days, mean 35.6), as was the total length of stay (5-173 days, mean 56.6). Three patients (19%) were infected by KPC-Kp, 2 of whom died. One previously colonized patient died later because of KPC-Kp infection.

Conclusions: Multifactorial strategy based on contact precautions (with patient and healthcare professional cohorts) and ASC, as well as Antibiotic Stewardship Program reinforcement, allowed to contain this KPC-Kp outbreak.

背景:产kpc肺炎克雷克菌(KPC-Kp)是一种具有重要临床和流行病学意义的公共卫生问题。我们描述了在葡萄牙波尔图一家中心医院血管外科和神经外科病房爆发的KPC-Kp。方法:1例KPC-Kp为KPC-Kp阳性患者,且在感染病房获得该微生物的流行病学合理性强,且/或KPC-Kp分离株之间的遗传关系≥92%。在选定的人群中,采用主动监测培养(ASCs)和实时聚合酶链反应,通过直肠拭子检测碳青霉烯酶基因。分子分析在国家参考实验室使用脉冲场凝胶电泳进行。从电子病历系统中收集患者危险因素。有关爆发遏制策略的信息是从感染控制股记录中收集的。结果:在16例中,11例(69%)通过主动筛查被发现,占收集的766例ASCs的1.4%。确定的最常见危险因素是既往入院(63%)、过去6个月抗生素暴露(50%)和免疫抑制(44%)。KPC-Kp检测前的停留时间较高(0-121天,平均35.6天),总停留时间较高(5-173天,平均56.6天)。3例(19%)感染KPC-Kp, 2例死亡。一名先前定植的患者后来因感染KPC-Kp而死亡。结论:基于接触预防(患者和卫生保健专业人员队列)和ASC的多因素策略,以及抗生素管理计划的加强,可以控制这次KPC-Kp暴发。
{"title":"Outbreak of KPC-producing <i>Klebsiella pneumoniae</i> at a Portuguese university hospital: Epidemiological characterization and containment measures.","authors":"David Peres,&nbsp;Paulo Figueiredo,&nbsp;Paulo Andrade,&nbsp;Nuno Rocha-Pereira,&nbsp;Cláudia Carvalho,&nbsp;Rita Ferraz,&nbsp;Raquel Duro,&nbsp;Arnaldo Dias,&nbsp;Abel Gomes,&nbsp;Cláudia Pereira,&nbsp;Gisélia Braga,&nbsp;Virginia Pereira,&nbsp;Lino Azevedo,&nbsp;Edgar Moniz,&nbsp;Manuela Ribeiro,&nbsp;Eugénia Ferreira,&nbsp;Vera Manageiro,&nbsp;José Teixeira,&nbsp;Tiago Guimarães,&nbsp;Manuela Caniça,&nbsp;Carlos Alves","doi":"10.1097/j.pbj.0000000000000186","DOIUrl":"https://doi.org/10.1097/j.pbj.0000000000000186","url":null,"abstract":"<p><strong>Background: </strong>KPC-producing <i>K pneumoniae</i> (KPC-Kp) is a public health problem with important clinical and epidemiological implications. We describe an outbreak of KPC-Kp at vascular surgery and neurosurgery wards in a central hospital in Porto, Portugal.</p><p><strong>Methods: </strong>A case of KPC-Kp was considered to be a patient positive for KPC-Kp with strong epidemiological plausibility of having acquired this microorganism in the affected wards and/or with genetic relationship ≥92% between KPC-Kp isolates. Active surveillance cultures (ASCs) and real-time polymerase chain reaction were used for the detection of carbapenemase genes through rectal swab in a selected population. Molecular analysis was performed using pulsed-field gel electrophoresis at the National Reference Laboratory. Patient risk factors were collected from the electronic medical record system. Information regarding outbreak containment strategy was collected from the Infection Control Unit records.</p><p><strong>Results: </strong>Of the 16 cases, 11 (69%) were identified through active screening, representing 1.4% of the total 766 ASCs collected. The most frequent risk factors identified were previous admission (63%), antibiotic exposure in the past 6 months (50%), and immunodepression (44%). The length of stay until KPC-Kp detection was high (0-121 days, mean 35.6), as was the total length of stay (5-173 days, mean 56.6). Three patients (19%) were infected by KPC-Kp, 2 of whom died. One previously colonized patient died later because of KPC-Kp infection.</p><p><strong>Conclusions: </strong>Multifactorial strategy based on contact precautions (with patient and healthcare professional cohorts) and ASC, as well as Antibiotic Stewardship Program reinforcement, allowed to contain this KPC-Kp outbreak.</p>","PeriodicalId":74479,"journal":{"name":"Porto biomedical journal","volume":"7 6","pages":"e186"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158887/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9435511","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}
引用次数: 1
Diagnosis of pathological conditions through electronic nose analysis of urine samples: a systematic review and meta-analysis. 通过尿液样本的电子鼻分析诊断病理状况:一项系统回顾和荟萃分析。
Pub Date : 2022-11-01 DOI: 10.1097/j.pbj.0000000000000188
Helga A S Afonso, Mariana V Farraia, Mónica A Vieira, João Cavaleiro Rufo

Currently available urinalysis methods are often applied for screening and monitoring of several pathologies. However, traditionally analyzed biomarkers in urinalysis still lack sensitivity and specificity to accurately diagnose some diseases. Several studies have proposed the use of electronic noses (eNoses) for the analysis of volatile organic compounds in urine samples that may, directly or indirectly, correlate with certain pathologies. Hence, the aim of this study was to perform a systematic review and meta-analysis of studies concerning the use of portable electronic noses for diagnosis or monitoring of pathologies through analysis of urine samples. A systematic review of the literature was held according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Twenty-four articles met the inclusion criteria and were included in the analysis. The results of the revised studies showed that there are various volatile organic compound profiles, identified through eNose analysis, that may be applied for diagnosis or monitoring of several diseases, such as diabetes, urinary tract infection, inflammatory bowel disease, and kidney disease. A meta-analysis was conducted taking into consideration the data of 10 of the initial 24 articles. The pooled sensitivity, specificity, and diagnostic odds ratio were 84% (95% CI, 0.72-0.92), 85% (95% CI, 0.75-0.91), and 24.17 (95% CI: 7.85-74.41), respectively. The area under the receiver operating characteristic curve was 0.897. These results suggest that eNose technology has adequate diagnostic accuracy for several pathologies and could be a promising screening tool for clinical settings. However, more studies are needed to reduce heterogeneity between results.

目前可用的尿液分析方法常用于几种病理的筛查和监测。然而,传统分析的尿液生物标志物在准确诊断某些疾病方面仍缺乏敏感性和特异性。一些研究建议使用电子鼻(enses)来分析尿液样本中的挥发性有机化合物,这些化合物可能直接或间接地与某些病理相关。因此,本研究的目的是对有关使用便携式电子鼻通过分析尿液样本来诊断或监测病理的研究进行系统回顾和荟萃分析。根据系统评价和荟萃分析指南的首选报告项目对文献进行系统评价。24篇符合纳入标准的文章被纳入分析。修订后的研究结果表明,通过eNose分析鉴定出各种挥发性有机化合物谱,可用于诊断或监测几种疾病,如糖尿病、尿路感染、炎症性肠病和肾脏疾病。对最初24篇文章中的10篇进行meta分析。合并敏感性、特异性和诊断优势比分别为84% (95% CI, 0.72-0.92)、85% (95% CI, 0.75-0.91)和24.17 (95% CI: 7.85-74.41)。受试者工作特征曲线下面积为0.897。这些结果表明,eNose技术对几种病理有足够的诊断准确性,可能是一种有前途的临床筛查工具。然而,需要更多的研究来减少结果之间的异质性。
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引用次数: 3
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Porto biomedical journal
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