Pub Date : 2023-01-01DOI: 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.
{"title":"The use of innovative targeted angiogenic therapies for ischemic diabetic foot ulcer repair: From nanomedicine and microRNAs toward hyperbaric oxygen therapy.","authors":"Fatigracy Canha, Raquel Soares","doi":"10.1097/j.pbj.0000000000000187","DOIUrl":"https://doi.org/10.1097/j.pbj.0000000000000187","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":74479,"journal":{"name":"Porto biomedical journal","volume":"8 1","pages":"e187"},"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/5b/43/pj9-8-e187.PMC10194451.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9495860","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}
Pub Date : 2023-01-01DOI: 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, Mehmet Balasar, Mehmet Giray Sönmez, Muzaffer Tansel Kilinç, Pembe Oltulu, Eren Erol, 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}
Pub Date : 2023-01-01DOI: 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.
{"title":"Aqueous extract from urucum (<i>Bixa orellana</i> L.): antimicrobial, antioxidant, and healing activity.","authors":"Victor A Franklin, Edgar M Bach Hi, Nilsa S Y Wadt, Erna E Bach","doi":"10.1097/j.pbj.0000000000000183","DOIUrl":"https://doi.org/10.1097/j.pbj.0000000000000183","url":null,"abstract":"<p><p><b>Background:</b> Annatto was obtained from seed <i>B orellana</i> (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. <b>Methods:</b> 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. <b>Results:</b> 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. <b>Conclusions:</b> 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.</p>","PeriodicalId":74479,"journal":{"name":"Porto biomedical journal","volume":"8 1","pages":"e183"},"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/17/ab/pj9-8-e183.PMC10194807.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9502278","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}
Pub Date : 2023-01-01DOI: 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。
{"title":"Dietary interventions using Facebook: a systematic review.","authors":"Vera Cunha, Susana Montenegro, Patrícia Padrão","doi":"10.1097/j.pbj.0000000000000185","DOIUrl":"https://doi.org/10.1097/j.pbj.0000000000000185","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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 <i>Cochrane Guidelines for Systematic Reviews of Health Promotion and Public Health Interventions</i> and <i>Preferred Reporting Items for Systematic Reviews and Meta-Analysis</i> (PRISMA).</p><p><strong>Results: </strong>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%).</p><p><strong>Discussion: </strong>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.</p>","PeriodicalId":74479,"journal":{"name":"Porto biomedical journal","volume":"8 1","pages":"e185"},"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/85/0f/pj9-8-e185.PMC10194700.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9502275","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}
Pub Date : 2023-01-01DOI: 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.
{"title":"Candidates selection for oocyte donation in a public gamete bank-Predictive value of the anti-Müllerian hormone.","authors":"Emídio Vale-Fernandes, Márcia Barreiro, 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}
Pub Date : 2023-01-01DOI: 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.
{"title":"Copy number variations on chromosome 2: impact on human phenotype, a cross-sectional study.","authors":"Beatriz Sousa, Ana Grangeia, Joel Pinto, Helena Santos, 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}
Pub Date : 2022-11-01DOI: 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, André Laranja, Luísa Carvalho, 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}
Pub Date : 2022-11-01DOI: 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.
{"title":"Transfusion practices in patients with advanced cancer: a retrospective study in a palliative care service.","authors":"Sara Marote, Joana Marinho, Maria Cândida Silva, 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}
Pub Date : 2022-11-01DOI: 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.
{"title":"Outbreak of KPC-producing <i>Klebsiella pneumoniae</i> at a Portuguese university hospital: Epidemiological characterization and containment measures.","authors":"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","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}
Pub Date : 2022-11-01DOI: 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.
{"title":"Diagnosis of pathological conditions through electronic nose analysis of urine samples: a systematic review and meta-analysis.","authors":"Helga A S Afonso, Mariana V Farraia, Mónica A Vieira, João Cavaleiro Rufo","doi":"10.1097/j.pbj.0000000000000188","DOIUrl":"https://doi.org/10.1097/j.pbj.0000000000000188","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":74479,"journal":{"name":"Porto biomedical journal","volume":"7 6","pages":"e188"},"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/35/6b/pj9-7-e188.PMC10158878.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9798964","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}