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BACKGROUND: New evidence has emerged since latest guidelines on the management of paraesophageal hernia, and guideline development methodology has evolved. Members of the European Association for Endoscopic Surgery have prioritized the management of paraesophageal hernia to be addressed by pertinent recommendations. OBJECTIVE: To develop evidence-informed clinical practice recommendations on paraesophageal hernias, through evidence synthesis and a structured evidence-to-decision framework by an interdisciplinary panel of stakeholders. METHODS: We performed three systematic reviews, and we summarized and appraised the certainty of the evidence using the GRADE methodology. A panel of general and upper gastrointestinal surgeons, gastroenterologists and a patient advocate discussed the evidence in the context of benefits and harms, the certainty of the evidence, acceptability, feasibility, equity, cost and use of resources, moderated by a Guidelines International Network-certified master guideline developer and chair. We developed the recommendations in a consensus meeting, followed by a modified Delphi survey. RESULTS: The panel suggests surgery over conservative management for asymptomatic/minimally symptomatic paraesophageal hernias (conditional recommendation), and recommends conservative management over surgery for asymptomatic/minimally symptomatic paraesophageal hernias in frail patients (strong recommendation). Further, the panel suggests mesh over sutures for hiatal closure in paraesophageal hernia repair, fundoplication over gastropexy in elective paraesophageal hernia repair, and gastropexy over fundoplication in patients who have cardiopulmonary instability and require emergency paraesophageal hernia repair (conditional recommendation). A strong recommendation means that the proposed course of action is appropriate for the vast majority of patients. A conditional recommendation means that most patients would opt for the proposed course of action, and joint decision-making of the surgeon and the patient is required. Accompanying evidence summaries and evidence-to-decision frameworks should be read when using the recommendations. This guideline applies to adult patients with moderate to large paraesophageal hernias type II to IV with at least 50% of the stomach herniated to the thoracic cavity. The full guideline with user-friendly decision aids is available in https://app.magicapp.org/#/guideline/j7q7Gn . CONCLUSION: An interdisciplinary panel provides recommendations on key topics on the management of paraesophageal hernias using highest methodological standards and following a transparent process. GUIDELINE REGISTRATION NUMBER: PREPARE-2023CN018.
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Hernia Hiatal , Laparoscopía , Adulto , Humanos , Fundoplicación/métodos , Enfoque GRADE , Hernia Hiatal/cirugía , Hernia Hiatal/complicaciones , Laparoscopía/métodos , EstómagoRESUMEN
Introduction: Cavernous malformations (CM) of the central nervous system constitute rare vascular lesions. They are usually asymptomatic, which has allowed their management to become quite debatable. Even when they become symptomatic their optimal mode and timing of treatment remains controversial. Research question: A consensus may navigate neurosurgeons through the decision-making process of selecting the optimal treatment for asymptomatic and symptomatic CMs. Material and methods: A 17-item questionnaire was developed to address controversial issues in relation to aspects of the treatment, surgical planning, optimal surgical strategy for specific age groups, the role of stereotactic radiosurgery, as well as a follow-up pattern. Consequently, a three-stage Delphi process was ran through 19 invited experts with the goal of reaching a consensus. The agreement rate for reaching a consensus was set at 70%. Results: A consensus for surgical intervention was reached on the importance of the patient's age, symptomatology, and hemorrhagic recurrence; and the CM's location and size. The employment of advanced MRI techniques is considered of value for surgical planning. Observation for asymptomatic eloquent or deep-seated CMs represents the commonest practice among our panel. Surgical resection is considered when a deep-seated CM becomes symptomatic or after a second bleeding episode. Asymptomatic, image-proven hemorrhages constituted no indication for surgical resection for our panelists. Consensus was also reached on not resecting any developmental venous anomalies, and on resecting the associated hemosiderin rim only in epilepsy cases. Discussion and conclusion: Our Delphi consensus provides an expert common practice for specific controversial issues of CM patient management.
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BACKGROUND: Operative performance may affect the internal and external validity of randomized trials. The aim of this study was to review the use of surgical quality assurance mechanisms of published trials on laparoscopic anti-reflux surgery, with the objective to appraise their internal (research quality) and external validity (applicability to the clinical setting). METHODS: Building upon a previous systematic review and network meta-analysis published by the authors, Medline, Embase, AMED, CINAHL, CENTRAL, and OpenGrey databases were searched for randomized control trials comparing different methods of laparoscopic anti-reflux surgery for the management of gastroesophageal disease. Quality assurance in individual studies was appraised using a specified framework addressing surgeon accreditation, procedure standardization, and performance monitoring. RESULTS: In total, 2276 articles were screened to obtain 43 publications reporting 29 randomized controlled trials. Twenty-five out of 43 (58.1%) articles reported the number of participating centers and surgeons involved. Additionally, only 21/43 (48.8%) of articles reported consistent use of a bougie, while 23/43 (53.5%) of articles reported consistent division of the short gastric arteries during fundoplication. Surgical experience and credentials were stated in half of the studies. Standardization of the technique was reported in almost 70% of cases, whereas operative notes or video was submitted in one fourth of the studies. Monitoring of the operative performance during the trial was not documented in most of the trials (62%). CONCLUSION: Surgical quality assurance in randomized trials on laparoscopic anti-reflux surgery is insufficient, which does not allow appraisal of the internal and external validity of this research. With improved reporting, trials assessing the use of laparoscopic anti-reflux surgery will enable surgeons to make informed treatment decisions to enhance patient care in the surgical management of GERD.
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Esofagoplastia , Reflujo Gastroesofágico , Laparoscopía , Humanos , Fundoplicación/métodos , Reflujo Gastroesofágico/cirugía , Reflujo Gastroesofágico/tratamiento farmacológico , Laparoscopía/métodos , Metaanálisis en Red , Resultado del TratamientoRESUMEN
Preoperative risk stratification in the elderly surgical patient is an essential part of contemporary perioperative care and can be done with the use of the American College of Surgeons Surgical Risk Calculator (ACS-SRC). However, data on the generalizability of the ACS-SRC in the elderly is scarce. In this study, we report an external validation of the ACS-RC in a geriatric cohort. A retrospective analysis of a prospectively maintained database was performed including patients aged > 65 who underwent general surgery procedures during 2012−2017 in a Greek academic centre. The predictive ability of the ACS-SRC for post-operative outcomes was tested with the use of Brier scores, discrimination, and calibration metrics. 471 patients were included in the analysis. 30-day postoperative mortality was 3.2%. Overall, Brier scores were lower than cut-off values for almost all outcomes. Discrimination was good for serious complications (c-statistic: 0.816; 95% CI: 0.762−0.869) and death (c-statistic: 0.824; 95% CI: 0.719−0.929). The Hosmer-Lemeshow test showed good calibration for all outcomes examined. Predicted and observed length of stay (LOS) presented significant differences for emergency and for elective cases. The ACS-SRC demonstrated good predictive performance in our sample and can aid preoperative estimation of multiple outcomes except for the prediction of post-operative LOS.
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BACKGROUND: Choledocholithiasis presents in a considerable proportion of patients with gallbladder disease. There are several management options, including preoperative or intraoperative endoscopic cholangiopancreatography (ERCP), and laparoscopic common bile duct exploration (LCBDE). OBJECTIVE: To develop evidence-informed, interdisciplinary, European recommendations on the management of common bile duct stones in the context of intact gallbladder with a clinical decision to intervene to both the gallbladder and the common bile duct stones. METHODS: We updated a systematic review and network meta-analysis of LCBDE, preoperative, intraoperative, and postoperative ERCP. We formed evidence summaries using the GRADE and the CINeMA methodology, and a panel of general surgeons, gastroenterologists, and a patient representative contributed to the development of a GRADE evidence-to-decision framework to select among multiple interventions. RESULTS: The panel reached unanimous consensus on the first Delphi round. We suggest LCBDE over preoperative, intraoperative, or postoperative ERCP, when surgical experience and expertise are available; intraoperative ERCP over LCBDE, preoperative or postoperative ERCP, when this is logistically feasible in a given healthcare setting; and preoperative ERCP over LCBDE or postoperative ERCP, when intraoperative ERCP is not feasible and there is insufficient experience or expertise with LCBDE (weak recommendation). The evidence summaries and decision aids are available on the platform MAGICapp ( https://app.magicapp.org/#/guideline/nJ5zyL ). CONCLUSION: We developed a rapid guideline on the management of common bile duct stones in line with latest methodological standards. It can be used by healthcare professionals and other stakeholders to inform clinical and policy decisions. GUIDELINE REGISTRATION NUMBER: IPGRP-2022CN170.
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Colecistectomía Laparoscópica , Coledocolitiasis , Cálculos Biliares , Humanos , Colangiopancreatografia Retrógrada Endoscópica/métodos , Colecistectomía Laparoscópica/métodos , Enfoque GRADE , Metaanálisis en Red , Películas Cinematográficas , Coledocolitiasis/cirugía , Cálculos Biliares/cirugía , Conducto Colédoco/cirugíaRESUMEN
BACKGROUND: There are several options for the surgical management of GERD in adults. Previous guidelines and systematic reviews have compared the effects of total fundoplication versus pooled effects of different techniques of partial fundoplication. OBJECTIVE: To develop evidence-informed, trustworthy, pertinent recommendations on the use of total, posterior partial and anterior partial fundoplications for the management of GERD in adults. METHODS: We performed an update systematic review, network meta-analysis, and evidence appraisal using the GRADE and the Confidence in Network Meta-Analysis methodologies. An international, multidisciplinary panel of surgeons, gastroenterologists, and a patient representative reached unanimous consensus through an evidence-to-decision framework to select among multiple interventions, and a Delphi process to formulate the recommendation. The project was developed in an online authoring and publication platform (MAGICapp), and was overseen by an external auditor. RESULTS: We suggest posterior partial fundoplication over total posterior or anterior 90° fundoplication in adult patients with GERD. We suggest anterior >90° fundoplication as an alternative, although relevant comparative evidence is limited (weak recommendation). The guideline, with recommendations, evidence summaries and decision aids in user friendly formats can also be accessed in MAGICapp: https://app.magicapp.org/#/guideline/j20X4n. CONCLUSION: This rapid guideline was developed in line with highest methodological standards and provides evidence-informed recommendations on the surgical management of GERD. It provides user-friendly decision aids to inform healthcare professionals' and patients' decision making.
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Enfoque GRADE , Reflujo Gastroesofágico , Humanos , Metaanálisis en Red , Reflujo Gastroesofágico/cirugíaRESUMEN
Malnutrition is associated with dismal treatment outcomes in older patients but its impact in geriatric surgery has not been studied extensively. Herein, we report the prevalence of malnutrition risk, its risk factors and its association with postoperative outcomes in older patients undergoing operations of general surgery. This is a retrospective analysis of a prospectively maintained database including patients older than 65 years who were to undergo general surgery operations between 2012 and 2017. The Malnutrition Universal Screening Tool (MUST) was used for nutritional risk. Demographics, socioeconomic data, site and magnitude of the operation, various measures of comorbidity and functional dependence as well as postoperative complications based on Clavien-Dindo classification and length of stay were recorded. There were 501 patients. A total of 28.6% of them were at intermediate malnutrition risk (MUST = 1) and 14.6% were at high malnutrition risk (MUST ≥ 2). Variables independently associated with malnutrition risk (MUST ≥ 1) were smoking (Odds Ratio, OR:1.6, p = 0.041), upper gastrointestinal (GI) tract surgery (OR:20.4, p < 0.001), hepatobiliary-pancreatic surgery (OR:3.7, p = 0.001), lower GI surgery (OR:5.2, p < 0.001) and American Society of Anesthesiologists (ASA) class III/IV (OR:2.8, p = 0.001). In the multiple regression analysis adjusted for several confounding variables, the MUST score was significantly associated with postoperative death (OR:9.1, p = 0.047 for MUST = 1 and OR:11.9, p = 0.035 for MUST score ≥ 2) and postoperative hospital stay (adjusted incidence rate ratio, 1.3, p = 0.041 for MUST = 1 and 1.7, p < 0.001 for MUST ≥ 2). Malnutrition risk was highly prevalent in this sample, particularly in patients with operations of the gastrointestinal tract, in patients with poor physical status and it was associated with postoperative mortality and length of stay.
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BACKGROUND AND OBJECTIVES: The quality of evidence from a meta-analysis might be affected by poor or inadequate reporting of individual randomized controlled trials (RCTs). The results of data request from authors have not been investigated to date. Aim of this study was to quantify these results and propose a bundle of actions for improvement of data retrieval. STUDY DESIGN AND SETTING: After completion of a feasibility trial, the authors of 116 RCTs selected for inclusion in 4 meta-analyses and network meta-analyses were contacted via email to check abstracted data from their studies and/or provide missing data. Univariable and multivariable analyses were performed to investigate the association of response rate with predefined characteristics, including time interval between publication of the RCT and the date of contact, role of the contact author as corresponding author, the number of participating centers, the source of contact email address and risk of bias assessments. RESULTS: The response rate to the primary email invitation was 31.1% (median response time 0 days, interquartile range [IQR]: 0-1). Of the authors who did not respond to the primary invitation, 31.2% responded to the reminder (median response time 1 day, IQR: 0-3). Despite an overall response rate of 41%, both confirmation of data accuracy and supplementation of missing data were provided for 9 RCTs only (7.8%). No association was found between lack of response and predefined characteristics on univariable and multivariable analyses. CONCLUSION: Despite a fair response rate, contacting authors of RCTs to check abstracted data and complete missing items yielded a very low rate of task completion. These findings highlight the importance of endorsing a data-sharing culture among researchers. The role of alternative incentives is yet to be investigated.
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Autoria , Exactitud de los Datos , Almacenamiento y Recuperación de la Información/métodos , Almacenamiento y Recuperación de la Información/estadística & datos numéricos , Ensayos Clínicos Controlados Aleatorios como Asunto/estadística & datos numéricos , Humanos , Estudios ProspectivosRESUMEN
BACKGROUND: Despite the extensive literature on laparoscopic antireflux surgery, comparative evidence across different procedures is scarce. The aim of this study was to assess and rank the most efficacious and safe laparoscopic procedures for the management of gastroesophageal reflux disease. METHODS: Medline, Embase, AMED, CINAHL, CENTRAL, and OpenGrey databases were queried for randomized trials comparing two or more laparoscopic antireflux procedures with each other or with medical treatment for the management of gastroesophageal reflux disease. Pairwise meta-analyses were conducted for each pair of interventions using a random-effects model. Network meta-analysis was employed to assess the relative efficacy and safety of laparoscopic antireflux procedures for the management of gastroesophageal reflux disease. RESULTS: Forty-four publications reporting 29 randomized trials which included 1892 patients were identified. The network of treatments was sparse with only a closed loop between different types of wraps; 270°, 360°, anterior 180° and anterior 90°; and star network between 360° and other treatments; and between anterior 180° and other treatments. Laparoscopic 270° (odds ratio, OR 1.19, 95% confidence interval, CI 0.64-2.22), anterior 180°, and anterior 90° were equally effective as 360° for control of heartburn, although this finding was supported by low quality of evidence according to GRADE modification for NMA. The odds for dysphagia were lower after 270° (OR 0.38, 95%, CI 0.24-0.60), anterior 90° (moderate quality evidence), and anterior 180° (low-quality evidence) compared to 360°. The odds for gas-bloat were lower after 270° (OR 0.51, 95% CI 0.27, 0.95) and after anterior 90° compared to 360° (low-quality evidence). Regurgitation, morbidity, and reoperation were similar across treatments, albeit these were associated with very low-quality evidence. CONCLUSION: Laparoscopic 270° fundoplication achieves a better outcome than 360° total fundoplication, especially in terms of postoperative dysphagia, although other types of partial fundoplication might be equally effective. REGISTRATION NO: CRD42017074783.
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Fundoplicación/métodos , Reflujo Gastroesofágico/cirugía , Laparoscopía/métodos , Seguridad del Paciente , Trastornos de Deglución/cirugía , Esofagoplastia , Pirosis/cirugía , Humanos , Metaanálisis en Red , Oportunidad Relativa , Complicaciones Posoperatorias/etiología , Ensayos Clínicos Controlados Aleatorios como Asunto , Segunda Cirugía , Resultado del TratamientoRESUMEN
PURPOSE: The use of platelet-rich plasma (PRP) for the treatment of nonhealing ulcers is a relatively new technique. Although it seems to result in a satisfying level of healing and low complication rates, data regarding its effectiveness remain sparse. This study aims to evaluate the potential therapeutic effects of PRP on chronic nonhealing ulcers. MATERIALS AND METHODS: This was a prospectively designed study comparing outcomes between patients treated with PRP (Group A, n=15) and patients treated conventionally (Group B, n=12) for different types of nonhealing ulcers. In Group A, PRP was produced from the patients' own peripheral blood samples and was applied on the ulcer once every week. In Group B, patients were treated conventionally, without applying PRP. The total treatment period was 5 weeks. RESULTS: Both groups were similar regarding age, sex, comorbidities, and time of treatment. In Group A, patients showed a nonsignificant reduction of 4.5 mm2 in ulcer area (P=0.190) and a reduction of more than 1 mm in depth (P=0.0006), while Group B showed an increase of 108±80.5 mm2 in ulcer area after 5 weeks (P=0.016). The healing rate (HR) in Group A was stable and positive throughout the treatment period, while HR in Group B was initially negative but became positive after the 3rd week. CONCLUSION: PRP application once a week promotes the healing of chronic ulcers. It improves the ulcer's depth and HR, although its effect on ulcer area seems to be nonsignificant. However, larger comparative series are still needed to confirm these findings.
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BACKGROUND: Frailty in a surgical geriatric population may identify patients at increased risk of complications. However, the optimal method to diagnose it remains to be identified. This study aims to compare two common frailty models and assess their association with postoperative adverse outcomes in elderly patients undergoing general surgical procedures. METHODS: Prospective study including 298 patients age 65 years or older undergoing elective general surgical operations in a tertiary hospital. Frailty phenotype (FP) was classified using a validated scale which included weight loss, weakness, exhaustion, slowed walking speed and low physical activity. A preoperative comprehensive geriatric assessment (CGA) was performed including managing daily activities (ADL), instrumental ADL, cognitive status, comorbidities, polypharmacy and nutritional status. Main outcomes measures were postoperative complications and length of stay. RESULTS: There were 135 (46%), 114 (38%) and 46 (15%) minor/intermediate, major and major + procedures, respectively. The agreement between the FP and CGA was moderate (kappa index: 0.45). FP was significantly associated with postoperative complications with an odds ratio (OR) of 2.3, (95% confidence interval 1.4-3.8, p < 0.01). The association of CGA with postoperative complications did not reach statistical significance (p = 0.07). Postoperative hospital stay was significantly longer in both CGA frailty (p < 0.001) and FP (p = 0.001) groups compared to the fit population. In the multivariate analysis adjusted for ASA and POSSUM category, FP retained its significance as a predictor of postoperative complications (OR: 1.9, 95% CI 1.03-3.3, p = 0.038). CONCLUSIONS: FP was associated more consistently than CGA with adverse postoperative outcomes in elderly patients undergoing general surgical procedures.
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Fragilidad/complicaciones , Fragilidad/diagnóstico , Evaluación Geriátrica , Tiempo de Internación , Procedimientos Quirúrgicos Operativos/efectos adversos , Anciano , Anciano de 80 o más Años , Procedimientos Quirúrgicos Electivos/efectos adversos , Femenino , Humanos , Masculino , Complicaciones Posoperatorias/etiología , Periodo Posoperatorio , Estudios Prospectivos , Resultado del TratamientoRESUMEN
Blister aneurysms are rare lesions characterized by a bleb-like appearance in combination with prominent fragility. They mainly affect the supraclinoid internal carotid artery and they are often thought of as dissecting or even false lesions. Treatment of such lesions has been a matter of debate during the past few years with authors competing, in an ever changing field, for best results. Both surgical and endovascular modalities have been tried, with every technique having though its own limitations and pitfalls. Our article presents a small series of five blister cases, all treated by surgical means (clipping). We also review the relevant literature presenting a brief overview of available surgical options.
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Enfermedades de las Arterias Carótidas/cirugía , Arteria Carótida Interna/cirugía , Aneurisma Intracraneal/cirugía , Instrumentos Quirúrgicos , Anciano , Enfermedades de las Arterias Carótidas/diagnóstico , Angiografía Cerebral/métodos , Femenino , Humanos , Aneurisma Intracraneal/diagnóstico , Masculino , Persona de Mediana Edad , Resultado del TratamientoRESUMEN
Lipomas of the sigmoid colon are rare entities. The present case describes a 27-year-old Caucasian woman who underwent a laparoscopic sigmoidectomy following the detection of a giant lipoma. The young patient was referred to the Emergency Department of the University Hospital of Heraklion (Crete, Greece) in May 2013 after experiencing intermittent abdominal cramping during defecation, and altering episodes of diarrhea and constipation. In addition, the patient described the protrusion of a solid tissue mass shaped like a 'champagne bottle cork' from the anus following defecation. These symptoms had been present for 1 month prior to referral. Physical examination was unremarkable. An urgent colonoscopy revealed a polypoid lesion measuring 2.5 cm in diameter in the sigmoid colon, which was located ~12 cm above the anal ring, with a smooth surface and tissue fragility. Tissue samples were obtained and sent for histopathological analysis. Preoperative contrast-enhanced computed tomography was performed urgently and confirmed the presence of a solid mass in the sigmoid colon without enlargement of regional lymph nodes. Following adequate preparation, the patient underwent a laparoscopic sigmoidectomy with intracorporeal termino-terminal colorectal anastomosis, with the use of a circular stapler. The patient had a positive post-operative outcome without complications and was discharged on day 4 post-surgery in an optimal condition. Histopathological examination of the surgical specimen demonstrated a pedunculated lipoma shaped like a 'champagne bottle cork'. The tumor consisted of mature adipose cells. The overlying colonic mucosa showed hyperplastic crypts with regenerative changes. In the lamina propria mild inflammatory infiltration was observed. At 2 years post-surgery, the patient remains asymptomatic without any clinical evidence of recurrence.
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Introduction. Neuroendocrine carcinoma (NEC) of pancreas is a rare tumor with aggressive progression and poor prognosis. Its coexistence with adenocarcinoma poses significant clinical problems and has not been addressed in the literature. Methods. We describe a case of a 51-year-old male who underwent pancreatoduodenectomy due to pancreatic head tumor 1.5 × 1 × 1.4 cm. Histological examination of the specimen revealed a mixed neoplasm: (1) a well differentiated adenocarcinoma, neoplastic blasts of which are extended focally to the submucosa without invading the muscular layer, and (2) a low differentiated NEC consisting of solid clusters and pagetoid formations. All 18 lymph nodes of the specimen were free of neoplastic disease and the surgical margins of the specimen were tumor-free. No adjuvant treatment was administered and two months after the operation the patient developed liver metastasis. FNA cytology of the hepatic lesions revealed low grade carcinoma with neuroendocrine characteristics. Five lines of chemotherapy were administered: VP + CDDP, paclitaxel + ifosfamide + Mesna + CDDP, Folfox + Avastin, Folfiri + Avastin, and CAV. During his treatment he revealed PD and succumbed to his disease 13 months after the operation. Conclusion. Coexistence of NEC with adenocarcinoma of the pancreas is a very rare entity presenting significant challenges regarding its adjuvant treatment and the treatment of distant relapse.
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BACKGROUND: Measures have been taken to improve methodological quality of randomized controlled trials (RCTs). This review systematically assessed the trends in volume and methodological quality of RCTs on minimally invasive surgery within a 10-year period. DATA SOURCES: RCTs on minimally invasive surgery were searched in the 10 most cited general surgical journals and the 5 most cited journals of laparoscopic interest for the years 2002 and 2012. Bibliometric and methodological quality components were abstracted using the Scottish Intercollegiate Guidelines Network. The pooled number of RCTs from low-contribution regions demonstrated an increasing proportion of the total published RCTs, compensating for a concomitant decrease of the respective contributions from Europe and North America. International collaborations were more frequent in 2012. Acceptable or high quality RCTs accounted for 37.9% and 54.4% of RCTs published in 2002 and 2012, respectively. Components of external validity were poorly reported. CONCLUSIONS: Both the volume and the reporting quality of laparoscopic RCTs have increased from 2002 to 2012, but there seems to be ample room for improvement of methodological quality.
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Laparoscopía , Ensayos Clínicos Controlados Aleatorios como Asunto/estadística & datos numéricos , Proyectos de Investigación , Bibliometría , Humanos , Internacionalidad , Publicaciones Periódicas como Asunto/estadística & datos numéricosRESUMEN
BACKGROUND: Pathogenesis of cerebral aneurysms implicates several risk factors. Three common thrombophilia-predisposing mutations were studied in patients with cerebrovascular aneurysms. PATIENTS AND METHODS: A total of 186 Greeks (66 patients with intracranial aneurysm and 120 healthy controls) were studied. Fifteen patients had a family history of thrombophilia, while two of them had a first-degree relative with an aneurysm. Genetic analysis for thrombophilia-predisposing mutations factor V Leiden, factor II (prothrombin) G20210A and methylenetetrahydrofolate reductase C677T was performed in all subjects. RESULTS: Genotypic distributions and allelic frequencies were compatible with the Hardy-Weinberg equilibrium. There was no significant difference between healthy individuals and patients in mutant allelic frequencies of thrombophilia mutations. Nevertheless, the mutant allelic frequencies of factor V and II mutations were significantly increased in the sub-group of patients with a positive family history of thrombophilia compared to controls (p≤0.003). CONCLUSION: Certain thrombophilia-related mutations may contribute to pathogenesis of intracranial aneurysms in a subset of the general population.