Einstein-Sao Paulo最新文献

{"title":"Clinical outcomes and direct cost analysis of rotator cuff repair surgery.","authors":"Rafael Pierami, Eliane Antonioli, Isabela Queiros Castro, Paula Fairbanks, Felipe Giorgi Manente, Mario Lenza","doi":"10.31744/einstein_journal/2024GS0473","DOIUrl":"10.31744/einstein_journal/2024GS0473","url":null,"abstract":"<p><strong>Objective: </strong>The purpose of this study was to evaluate the clinical and functional outcomes in patients who underwent surgical treatment for rotator cuff tears using open and arthroscopic techniques, and to evaluate the direct costs involved.</p><p><strong>Methods: </strong>Retrospective cohort study with analysis of the data of patients who were referred to two private hospitals in Sao Paulo, Brazil for surgical repair of the rotator cuff from January 2018 to September 2019. Clinical outcomes were assessed using functional scores (SPADI and QuickDASH) and a quality of life questionnaire (EuroQoL). Procedure costs were calculated relative to each hospital's costliest procedure.</p><p><strong>Results: </strong>Data from 362 patients were analyzed. The mean patient age was 57 years (SD= 10.46), with a slight male predominance (53.9%). Arthroscopic procedures were more common than open procedures (95.6% versus 4.4%). Significant clinical improvement was reported in 84.8% of the patients. The factors associated with increased surgery costs were arthroscopic technique (increase of 29.2%), age (increase of 0.6% per year), and length of stay (increase of 18.9% per day of hospitalization).</p><p><strong>Conclusion: </strong>Rotator cuff repair surgery is a highly effective procedure, associated with favorable clinical outcomes and improvement in life quality, and low rates of complications. Arthroscopic surgery tends to be costlier than open surgery.</p>","PeriodicalId":47359,"journal":{"name":"Einstein-Sao Paulo","volume":"22 ","pages":"eGS0473"},"PeriodicalIF":1.1,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11323837/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142082136","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":"Perspectives of primary care providers regarding multicancer early detection panels.","authors":"Benjamin E Ueberroth, Richard J Presutti, Alyssa McGary, Mitesh J Borad, Neera Agrwal","doi":"10.31744/einstein_journal/2024AO0771","DOIUrl":"10.31744/einstein_journal/2024AO0771","url":null,"abstract":"<p><strong>Objective: </strong>Multicancer early detection panels have recently become available to patients with healthcare provider prescriptions and available funds. These tests utilize circulating tumor DNA (ctDNA) to screen more than 50 cancers using a single blood sample. However, perspectives and data on how the deployment of these tests may impact the practices of primary care providers in terms of implementation, interpretation, documentation, and costs are limited. This study aimed to assess the perspectives of primary care providers regarding the integration of multicancer early detection panels into clinical practice.</p><p><strong>Methods: </strong>We used a survey to assess the opinions and perspectives of primary care providers, including physicians, nurse practitioners, and physician assistants, across a multistate, tertiary healthcare system. We used a single form consisting of novel questions on familiarity with multi-cancer early detection panels, cost, healthcare equity, documentation, medicolegal, and other concerns. The subgroup analysis was consistent with stratification based on familiarity with ctDNA-based tests and their roles in clinical practice.</p><p><strong>Results: </strong>Most respondents were unfamiliar with multicancer early detection panels and had not used ctDNA-based tests. Most primary care providers suggested that they would reorder multicancer early detection panel testing at 1- to 5-year intervals and prefer subspecialists for both ordering multicancer early detection panels as well as interpreting their results. Relative concerns differed between physicians and nonphysicians.</p><p><strong>Conclusion: </strong>The integration of multicancer early detection panels into primary care practice requires careful planning and consideration for the management of increased clinical load, interpretation of results, and cost management.</p>","PeriodicalId":47359,"journal":{"name":"Einstein-Sao Paulo","volume":"22 ","pages":"eAO0771"},"PeriodicalIF":1.1,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11323832/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142082174","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":"Inhaled nitric oxide in moderate-to-severe COVID-19 acute respiratory distress syndrome: a retrospective cohort study.","authors":"Lucas Eduardo Benthien Santos, Camila Campos Grisa Padovese, Isabela Belarmino Oliveira de Castro, Rodrigo Carneiro Franco, Ana Paula Pires Bolsoni Okuda, Mariana Resende Bustamante, Luciana Gioli-Pereira","doi":"10.31744/einstein_journal/2024AO0578","DOIUrl":"10.31744/einstein_journal/2024AO0578","url":null,"abstract":"<p><strong>Objective: </strong>In this study, we present the findings from a cohort of patients with COVID-19 with acute respiratory distress syndrome who underwent standard therapy, including prone positioning, with or without adjunctive inhalation of nitric oxide. Our investigation sought to determine whether inhaled nitric oxide administration yielded clinical enhancement in this population. Remarkably, nitric oxide administration elevated the PaO2/FiO2 ratio, which is indicative of improved oxygenation. Despite this improvement, discernible mortality benefits did not emerge in association with the inhaled nitric oxide treatment. To evaluate the responsiveness of COVID-19 acute respiratory distress syndrome patients to inhaled nitric oxide as part of their standard therapy.</p><p><strong>Methods: </strong>This retrospective cohort study included critically ill adult patients with confirmed COVID-19 treated between March 2020 and May 2021. Eligible patients with moderate-to-severe acute respiratory distress syndrome due to COVID-19 were subsequently categorized into two groups based on inhaled nitric oxide use throughout their stay in the intensive care unit. The primary endpoints were overall mortality and improvement in oxygenation parameters 6 hours after inhaled nitric oxide use.</p><p><strong>Results: </strong>A total of 481 patients admitted to the intensive care unit due to COVID-19 acute respiratory distress syndrome were screened, 105 of which were included. Among the 105 patients, inhaled nitric oxide therapy was used in 33 patients, will 72 did not undergo inhaled nitric oxide therapy. No significant difference in mortality was observed between the groups (67% for the treatment and 82% for the no-treatment groups respectively, p=0.173). Among the patients who used inhaled nitric oxide, 17 (51%) were considered responsive to therapy. There was no significant difference in the length of stay in the intensive care unit (p=0.324) or total hospitalization time (p=0.344).</p><p><strong>Conclusion: </strong>Inhaled nitric oxide rescue therapy improved oxygenation in patients with COVID-19 with moderate-to-severe acute respiratory distress syndrome but did not affect mortality.</p>","PeriodicalId":47359,"journal":{"name":"Einstein-Sao Paulo","volume":"22 ","pages":"eAO0578"},"PeriodicalIF":1.1,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11319026/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142019158","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":"Hernia 3D training model: a new inguinal hernia 3D-printed simulator.","authors":"Paulo Henrique Fogaça de Barros, Camila Scivoletto Borges, Caroline Petersen da Costa Ferreira, Bruno de Lucia Hernani, Iron Pires Abreu Neto, Luciano Tastaldi, Leandro Totti Cavazzola","doi":"10.31744/einstein_journal/2024AO0620","DOIUrl":"10.31744/einstein_journal/2024AO0620","url":null,"abstract":"<p><strong>Objective: </strong>Barros et al. demonstrated a 3D printed model that exhibits anatomical representativeness, low cost, and scalability. The model was created based on subtraction data obtained from computed tomography scans. Images were modeled and reconstructed in 3D to display the male inguinal region, typically viewed using a laparoscopic approach. To evaluate the functionality and quality of the anatomical representation of the hernia 3D training model.</p><p><strong>Methods: </strong>A model was created based on subtraction data derived from computed tomography scans of the pelvic bones and lumbar spine using the Blender 3.2.2 software program. Images were modeled and reconstructed in 3D to display the male inguinal region, typically viewed using a laparoscopic approach. Polylactic acid plastic was used to print the model. Some structures were made using ethylene vinyl acetate to enable possible material replacement and model reutilization. Thirty surgeons with various training levels were invited to use the model. Transabdominal inguinal hernioplasty was performed by simulating the same steps as those of a laparoscopic surgery, and the surgeons answered a questionnaire regarding the simulation.</p><p><strong>Results: </strong>Twenty-eight surgeons responded, seven of whom were experts in the treatment of abdominal wall hernias. The model was deemed easy to use, realistic, and anatomically precise, establishing it as a valuable supplement to minimally invasive surgery training.</p><p><strong>Conclusion: </strong>The evaluation of this 3D model was favorable, as it accurately depicted the inguinal region anatomically, while also proving to be cost-effective for training purposes. The model could be a good option, particularly beneficial for training surgeons at the beginning of their careers.</p>","PeriodicalId":47359,"journal":{"name":"Einstein-Sao Paulo","volume":"22 ","pages":"eAO0620"},"PeriodicalIF":1.1,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11319028/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142019157","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":"Appropriate Delivery Project: Impact of Simulation Training on the Increase in Vaginal Births in Hospitals in Brazil.","authors":"Mariana Santos Alecrim Molina, Eduardo Cordioli, Thomaz Bittencourt Couto, Joyce Kelly Silva Barreto, Rita de Cássia Sanchez","doi":"10.31744/einstein_journal/2024AO0783","DOIUrl":"10.31744/einstein_journal/2024AO0783","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to analyze the relationship between the participation of professionals in simulation-based training and an increase in the rate of vaginal deliveries.</p><p><strong>Methods: </strong>This retrospective observational study analyzed professionals' participation in high-fidelity simulation training during the pilot phase of the Appropriate Delivery Project, spanning from May 21, 2015 to May 21, 2016, along with the rates of vaginal deliveries across various hospitals. Data for participation by nurses and physicians were examined using a gamma distribution model to discern the predictors influencing the changes in the percentage of vaginal births.</p><p><strong>Results: </strong>Data from 27 hospitals involved in the project were analyzed. A total of 339 healthcare professionals, including 147 nurses and 192 doctors, underwent the simulation-based training. During the pilot test, the percentage of vaginal births increased from 27.8% to 36.1%, which further increased to 39.8% in the post-intervention period, particularly when the participation rate of nurses exceeded the median.</p><p><strong>Conclusion: </strong>This study suggests that simulation-based training is a valuable strategy for achieving positive changes in obstetric practice, specifically an increase in the rate of vaginal births. These findings underscore the potential advantages of incorporating simulation training into improvement initiatives, as evidenced by the correlation between higher training adoption rates and substantial and sustained enhancements in vaginal birth rates.</p>","PeriodicalId":47359,"journal":{"name":"Einstein-Sao Paulo","volume":"22 ","pages":"eAO0783"},"PeriodicalIF":1.1,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11319025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141976861","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":"Rapid cycle deliberate practice versus postsimulation debriefing in pediatric cardiopulmonary resuscitation training: a randomized controlled study.","authors":"Laila Pinto Coelho, Sylvia Costa Lima Farhat, Rafael da Silva Giannasi Severini, Ana Carolina Amarante Souza, Katharina Reichmann Rodrigues, Fernanda Paixão Silveira Bello, Claudio Schvartsman, Thomaz Bittencourt Couto","doi":"10.31744/einstein_journal/2024AO0825","DOIUrl":"10.31744/einstein_journal/2024AO0825","url":null,"abstract":"<p><strong>Objective: </strong>Simulation plays an important role in cardiopulmonary resuscitation training. Comparing postsimulation debriefing with rapid cycle deliberate practice could help determine the best simulation strategy for pediatric cardiopulmonary resuscitation training among pediatric residents.</p><p><strong>Methods: </strong>This is a single-blind, prospective, randomized controlled study. First- and second year pediatric residents were enrolled and randomized into two groups (1:1 ratio): rapid cycle deliberate practice group (intervention) or postsimulation debriefing group (control). They participated in two rounds of simulated pediatric cardiopulmonary arrest to assess the simulated pediatric cardiopulmonary resuscitation performance gain (round 1) and retention after a 5-6 week washout period (round 2). Scenarios were video-recorded and analyzed by blinded evaluators. The main outcome was the time to initiation of chest compressions. Secondary outcomes included time to recognize a cardiopulmonary arrest, time to recognize a shockable rhythm, time to defibrillation, time to initiation of chest compressions after defibrillation, and chest compression fraction.</p><p><strong>Results: </strong>Sixteen groups participated in the first round and fifteen groups in the second one. Time to intiation of chest compressions decreased from preintervention scenario to the round 1 testing scenario and increased from round 1 to round 2 testing scenario. However, no interaction effects nor group effects were observed (p=0.885 and p=0.329, respectively). There were no significant differences between the two groups regarding the secondary outcomes.</p><p><strong>Conclusion: </strong>Despite an overall improvement in simulated pediatric cardiopulmonary resuscitation performance, we did not observe significant differences between the two groups regarding the analyzed variables. The decline in simulated pediatric cardiopulmonary resuscitation performance after 5 weeks suggests the need for shorter time intervals between training sessions.</p>","PeriodicalId":47359,"journal":{"name":"Einstein-Sao Paulo","volume":"22 ","pages":"eAO0825"},"PeriodicalIF":1.1,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11319027/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141976864","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":"Inflammation and all-cause mortality in patients undergoing peritoneal dialysis.","authors":"Wander Valadares de Oliveira Júnior, Luciane Teixeira Passos Giarola, Letícia Gonçalves Resende Ferreira, Isabella Viana Gomes Schettini, Sylvia Dias Turani, Arlindo Ribeiro de Oliveira, Maria Aparecida Silva Marinho, Sérgio Wyton Lima Pinto, Melina Barros-Pinheiro, Roberta Carvalho de Figueiredo, Danyelle Romana Alves Rios","doi":"10.31744/einstein_journal/2024AO0627","DOIUrl":"10.31744/einstein_journal/2024AO0627","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to evaluate inflammatory biomarkers in patients undergoing peritoneal dialysis and investigate their association with all-cause mortality or transfer to hemodialysis.</p><p><strong>Methods: </strong>This prospective cohort study included 43 patients undergoing peritoneal dialysis. Plasma levels of cytokines were measured using flow cytometry and capture enzyme-linked immunosorbent assay. Biomarkers were categorized based on their respective median values. Survival analysis was conducted using the Kaplan-Meier estimator, considering two outcomes: all-cause mortality and transfer to hemodialysis.</p><p><strong>Results: </strong>After adjusting for confounding factors, plasma levels above the median of the levels of CCL2 and plasma, as well as below the median of TNF-α, and the median of dialysate IL-17 levels, were associated with an increased risk of experiencing the specified outcomes after approximately 16 months of follow-up.</p><p><strong>Conclusion: </strong>These findings suggest that inflammatory biomarkers may be a valuable tool for predicting all-cause mortality and transfer to hemodialysis in patients undergoing peritoneal dialysis.</p>","PeriodicalId":47359,"journal":{"name":"Einstein-Sao Paulo","volume":"22 ","pages":"eAO0627"},"PeriodicalIF":1.1,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11323835/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141976862","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":"Mortality, hospitalizations, and persistence of symptoms in the outpatient setting of the first COVID-19 wave in Brazil: results of SARS-Brazil cohort study.","authors":"Henrique Andrade Rodrigues Fonseca, Adriano Jose Pereira, Ricardo Kenji Nawa, Viviane Aparecida Rodrigues Sant'Anna, Tatiana Ferreira de Almeida, Hélio Penna Guimarães, Alexandre Pereira Tognon, Lucas Miranda Marques, Lucas Santana Coelho da Silva, Rafaela de Souza Bittencourt, Camila Pachêco Gomes, Priscila de Aquino Martins, Aryadne Lyrio de Oliveira, Eveline Pipolo Milan, Frederico Toledo Campos Dall'Orto, Conrado Roberto Hoffman Filho, Guacyra Almeida, Fábio Barlem Hohmann, Diogo Duarte Fagundes Moia, Luciana Pereira Almeida Piano, Felipe Pinheiro Machado, Ronaldo Vicente Pereira Soares, Lucas Petri Damiani, Silvia Regina Lamas Assis, Edson Amaro Junior, Luiz Vicente Rizzo, Otávio Berwanger","doi":"10.31744/einstein_journal/2024AO0652","DOIUrl":"10.31744/einstein_journal/2024AO0652","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate deaths, hospitalizations, and persistence of symptoms in patients with COVID-19 after infection in an outpatient setting during the first COVID-19 wave in Brazil.</p><p><strong>Methods: </strong>This prospective cohort was between April 2020 and February 2021. Hospitalized or non-hospitalized COVID-19 patients until five days after symptom onset were included. The outcomes measured were incidence of death, hospitalization, and persistence of more than two symptoms 60 days after discharge.</p><p><strong>Results: </strong>Out of 1,198 patients enrolled in the study, 66.7% were hospitalized. A total of 289 patients died (1 [0.3%] non-hospitalized and 288 [36%] hospitalized). At 60 days, patients non-hospitalized during admission had more persistent symptoms (16.2%) compared to hospitalized (37.1%). The COVID-19 severity variables associated with the persistence of two or more symptoms were increased age (OR= 1.03; p=0.015), respiratory rate at hospital admission (OR= 1.11; p=0.005), length of hospital stay of more than 60 days (OR= 12.24; p=0.026), and need for intensive care unit admission (OR= 2.04; p=0.038).</p><p><strong>Conclusion: </strong>COVID-19 survivors who were older, tachypneic at admission, had a hospital length of stay >60 days, and were admitted to the intensive care unit had more persistent symptoms than patients who did not require hospitalization in the early COVID-19 waves.ClinicalTrials.gov Identifier: NCT04479488.</p>","PeriodicalId":47359,"journal":{"name":"Einstein-Sao Paulo","volume":"22 ","pages":"eAO0652"},"PeriodicalIF":1.1,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11323834/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141976863","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":"Cost and time of hospitalization for elderly people with bone fractures in a reference hospital.","authors":"Aline Cremasco Rocha, Bruna Granig Valente, Danilo Wingeter Ramalho, Juliana Baleki Borri, Carlos Augusto de Mattos, Cintia Kelly Bittar","doi":"10.31744/einstein_journal/2024GS0493","DOIUrl":"10.31744/einstein_journal/2024GS0493","url":null,"abstract":"<p><strong>Objective: </strong>To describe and analyze the aspects regarding the cost and length of stay for elderly patients with bone fractures in a tertiary reference hospital.</p><p><strong>Methods: </strong>A cross-sectional retrospective study using data obtained from medical records between January and December 2020. For statistical analysis, exploratory analyses, Shapiro-Wilk test, χ2 test, and Spearman correlation were used.</p><p><strong>Results: </strong>During the study period, 156 elderly patients (62.2% women) with bone fractures were treated. The main trauma mechanism was a fall from a standing height (76.9%). The most common type of fracture in this sample was a transtrochanteric fracture of the femur, accounting for 40.4% of cases. The mean length of stay was 5.25 days. The total cost varied between R$2,006.53 and R$106,912.74 (average of R$15,695.76) (updated values). The mean daily cost of hospitalization was R$4,478.64. A positive correlation was found between the length of stay and total cost. No significant difference in cost was observed between the two main types of treated fractures.</p><p><strong>Conclusion: </strong>Fractures in the elderly are frequent, resulting in significant costs. The longer the hospital stay for treatment, the higher the total cost. No correlation was found between total cost and number of comorbidities, number of medications used, and the comparison between the treatment of transtrochanteric and femoral neck fractures.</p>","PeriodicalId":47359,"journal":{"name":"Einstein-Sao Paulo","volume":"22 ","pages":"eGS0493"},"PeriodicalIF":1.1,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11239199/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141856749","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":"PRKAG2 syndrome, a rare hypertrophic cardiomyopathy: a Brazilian long-term follow-up with extracardiac disorders.","authors":"Lenises de Paula van der Steld, Mario de Seixas Rocha, Ana Marice Teixeira Ladeia, Humberto Lago Livramento, Gervásio Batista Campos, Francisco Carlos da Costa Darrieux, Oscar Campuzano, Ramon Brugada","doi":"10.31744/einstein_journal/2024AO0549","DOIUrl":"10.31744/einstein_journal/2024AO0549","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to provide a long-term follow-up of PRKAG2 syndrome and describe the new phenotypic aspects of the condition. PRKAG2 syndrome is a rare autosomal-dominant glycogen storage disease characterized by cardiac hypertrophy, ventricular pre-excitation, and conduction system disease. Fatal arrhythmias occur frequently.</p><p><strong>Methods: </strong>A family cohort of 66 participants was recruited. Clinical and genetic analyses were performed.</p><p><strong>Results: </strong>Median age of 36.97±17.28 years, with 69.9% being men. Nineteen subjects carried the deleterious variant p.K290I of the PRKAG2 gene. This group experienced many malignant events, including eight pacemaker implants, three sudden cardiac deaths, five aborted cardiac arrests, four strokes, four premature neonatal deaths, two spontaneous abortions, five forceps deliveries, and 12 cesarean procedures. Extracardiac involvement, such as in neurocognitive and psychiatric disorders, has been observed only in carriers of mutations. Palpitations, Syncope, atrial fibrillation, atrial flutter, sinus pauses, and bradycardia were strongly and significantly associated with major or severe adverse events (sudden cardiac death, aborted cardiac arrest, pacemaker use, stroke, and congestive heart failure). Early diagnosis and intervention through antiarrhythmic drugs, anticoagulation, pacemaker implantation, radiofrequency catheter ablation, and cesarean section surgery improved the symptoms and survival rates. Mutations carriers were advised to avoid pregnancy.</p><p><strong>Conclusion: </strong>This study identified that the p.K291I_PRKAG2 mutation is associated with poor prognosis, highlighting the need for early intervention. Further research may uncover the potential connections between intellectual disability, miscarriage, and neonatal death in individuals with this syndrome.</p>","PeriodicalId":47359,"journal":{"name":"Einstein-Sao Paulo","volume":"22 ","pages":"eAO0549"},"PeriodicalIF":1.1,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11239200/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141856750","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}