Porto biomedical journal最新文献

{"title":"Risk factors for refracture after proximal femur fragility fracture.","authors":"Beatriz C Lourenço,&nbsp;Tiago Amorim-Barbosa,&nbsp;Carolina Lemos,&nbsp;Ricardo Rodrigues-Pinto","doi":"10.1097/j.pbj.0000000000000207","DOIUrl":"https://doi.org/10.1097/j.pbj.0000000000000207","url":null,"abstract":"<p><strong>Introduction: </strong>Proximal femur fragility fractures (PFFFs) are a growing worldwide concern. Recognizing the risk factors for subsequent fracture is essential for secondary prevention. This study aimed to analyze the risk factors for refracture and mortality rates in patients who suffered a PFFF.</p><p><strong>Methods: </strong>Patients aged 65 years or older with PFFF who underwent surgical treatment during the year of 2017 in the same institution were retrospectively analyzed and at least four years after the index fracture were evaluated.</p><p><strong>Results: </strong>From a total of 389 patients, 299 patients were included, with a median age of 83 years, and 81% female. Thirty-two (10.7%) suffered a refracture, with a mean time to refracture of 19.8 ± 14.80 months, being the female sex a risk factor for refracture (OR-4.69; CI [1.05-20.95]). The 1-year mortality rate was 15.4%. Seventy-three (24.4%) patients had previous fragility fractures. After the index fracture, 79% remained untreated for osteoporosis. No statistical association was found between antiosteoporotic treatment and refracture. Patients with refracture had higher prefracture functional level compared with patients without refracture (OR-1.33; CI [1.08-1.63]) and were discharged more often to rehabilitation units (31% versus 16%, <i>P</i> =.028). After 4 years of follow-up, patients with refracture had lower functional level compared with patients without. Chronic kidney disease was a risk factor (<i>P</i> = .029) for early refracture (<24 months).</p><p><strong>Conclusion: </strong>Female sex and higher prefracture functional level may increase the risk of refracture. Chronic kidney disease was associated with a shorter refracture time. Despite having a PFFF or other fragility fractures, the majority of patients remained untreated for osteoporosis.</p>","PeriodicalId":74479,"journal":{"name":"Porto biomedical journal","volume":"8 2","pages":"e207"},"PeriodicalIF":0.0,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158875/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9799450","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":"Total knee arthroplasty coronal alignment and tibial base stress-a new numerical evaluation.","authors":"João Vale,&nbsp;Luisa V Pinto,&nbsp;Bianca Barros,&nbsp;Sara Diniz,&nbsp;Filipe Rodrigues,&nbsp;Marco Marques,&nbsp;Jorge Belinha,&nbsp;Adélio Vilaça","doi":"10.1097/j.pbj.0000000000000208","DOIUrl":"https://doi.org/10.1097/j.pbj.0000000000000208","url":null,"abstract":"<p><strong>Background: </strong>Total knee arthroplasty (TKA) is one of the most frequently performed orthopedic procedures. The correct positioning and alignment of the components significantly affects prosthesis survival. Considering the current controversy regarding the target of postoperative alignment of TKA, this study evaluated the tension at tibial component interface using two numerical methods.</p><p><strong>Methods: </strong>The stress of the prosthesis/bone interface of the proximal tibial component was evaluated using two numerical methods: the finite element method (FEM) and the new meshless method: natural neighbor radial point interpolation method (NNRPIM). The construction of the model was based on Zimmers NexGen LPS-Flex Mobile® prosthesis and simulated the forces by using a free-body diagram.</p><p><strong>Results: </strong>Tibiofemoral mechanical axis (TFMA) for which a higher number of nodes are under optimal mechanical tension is between 1° valgus 2° varus. For values outside the interval, there are regions under the tibial plate at risk of bone absorption. At the extremities of the tibial plate of the prosthesis, both medial and lateral, independent of the alignment, are under a low stress. In all nodes evaluated for all TFMA, the values of the effective stresses were higher in the NNRPIM when compared with the FEM.</p><p><strong>Conclusion: </strong>Through this study, we can corroborate that the optimal postoperative alignment is within the values that are currently considered of 0 ± 3° varus. It was verified that the meshless methods obtain smoother and more conservative results, which may make them safer when transposed to the clinical practice.</p>","PeriodicalId":74479,"journal":{"name":"Porto biomedical journal","volume":"8 2","pages":"e208"},"PeriodicalIF":0.0,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158898/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9783549","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":"Erratum: From the challenge of assessing autonomy to the instruments used in practice: a scoping review.","authors":"","doi":"10.1097/j.pbj.0000000000000203","DOIUrl":"https://doi.org/10.1097/j.pbj.0000000000000203","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1097/j.pbj.0000000000000153.].</p>","PeriodicalId":74479,"journal":{"name":"Porto biomedical journal","volume":"8 1","pages":"e203"},"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/c9/27/pj9-8-e203.PMC10194600.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9502273","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":"Associated factors to human papillomavirus vaccine adhesion in adult women: a cross-sectional study.","authors":"Rita Sarabando,&nbsp;Ana Vilela-Gomes,&nbsp;Isabel Reis,&nbsp;Amália Pacheco,&nbsp;Cristina Nogueira-Silva","doi":"10.1097/j.pbj.0000000000000181","DOIUrl":"https://doi.org/10.1097/j.pbj.0000000000000181","url":null,"abstract":"<p><strong>Background: </strong>The goal of human papillomavirus (HPV) vaccination is the decline of HPV related premalignant lesions, leading to prevention of cervical cancer. Vaccination against HPV is recommended until the age of 45 to prevent viral reinfections and reactivations. The aim of this study was to evaluate adhesion to HPV vaccination and their associated factors in adult women.</p><p><strong>Methods: </strong>Cross-sectional study in two tertiary hospitals, with a questionnaire distributed to women born between 1974 and 1992, from September till November 2019. Data collected included sociodemographic information, clinical information, knowledge about HPV, and the HPV vaccine and data regarding vaccine recommendation. Factors associated with vaccination were searched by bivariate and multivariate statistical analysis.</p><p><strong>Results: </strong>In 469 questionnaires, 25.4% (n = 119) women were vaccinated. The main reason for not vaccinating was the non-recommendation (n = 276; 70.2%). In bivariate analyses, vaccinated women were younger, predominantly not married, had higher educational level, and higher careers (<i>P</i> ≤ .001); an abnormal cytology, HPV infection or previous excision of the transformation zone were associated with a 3 to 4-fold increase in the odds of vaccination. Age, high-risk HPV infection, and knowing someone vaccinated remained factors independently associated with HPV vaccination in the multivariate analyses (<i>P</i>< .05). The recommendation of \"vaccinate immediately\" was independently associated with effectively doing it (<i>P</i>< .001).</p><p><strong>Conclusions: </strong>HPV vaccination is associated with vaccine recommendation, especially if it is recommended to do immediately. These results reinforce the need of health professionals to be aware of the impact that their recommendation has on adhesion to HPV vaccination.</p>","PeriodicalId":74479,"journal":{"name":"Porto biomedical journal","volume":"8 1","pages":"e181"},"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/74/56/pj9-8-e181.PMC10194588.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9502276","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 use of innovative targeted angiogenic therapies for ischemic diabetic foot ulcer repair: From nanomedicine and microRNAs toward hyperbaric oxygen therapy.","authors":"Fatigracy Canha,&nbsp;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}

{"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}

{"title":"Aqueous extract from urucum (<i>Bixa orellana</i> L.): antimicrobial, antioxidant, and healing activity.","authors":"Victor A Franklin,&nbsp;Edgar M Bach Hi,&nbsp;Nilsa S Y Wadt,&nbsp;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}

{"title":"Dietary interventions using Facebook: a systematic review.","authors":"Vera Cunha,&nbsp;Susana Montenegro,&nbsp;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}

{"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}

{"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}