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BACKGROUND: Endoscopic management is the first-line therapy for post-liver-transplant anastomotic strictures. Although the optimal duration of treatment with plastic stents has been reported to be 8-12 months, data on safety and duration for metal stents in this setting is scarce. Due to limited access to endoscopic retrograde cholangiopancreatography (ERCP) during the coronavirus disease 2019 pandemic in our centre, there was a change in practice towards increased usage and length-of-stay of the Kaffes biliary intraductal self-expanding stent in patients with suitable anatomy. This was mainly due to the theoretical benefit of Kaffes stents allowing for longer indwelling periods compared to the traditional plastic stents. AIM: To compare the safety and efficacy profile of different stenting durations using Kaffes stents. METHODS: Adult liver transplant recipients aged 18 years and above who underwent ERCP were retrospectively identified during a 10-year period through a database query. Unplanned admissions post-Kaffes stent insertion were identified manually through electronic and scanned medical records. The main outcome was the incidence of complications when stents were left indwelling for 3 months vs 6 months. Stent efficacy was calculated via rates of stricture recurrence between patients that had stenting courses for ≤ 120 d or > 120 d. RESULTS: During the study period, a total of 66 ERCPs with Kaffes insertion were performed in 54 patients throughout their stenting course. In 33 ERCPs, the stent was removed or exchanged on a 3-month interval. No pancreatitis, perforations or deaths occurred. Minor post-ERCP complications were similar between the 3-month (abdominal pain and intraductal migration) and 6-month (abdominal pain, septic shower and embedded stent) groups - 6.1% vs 9.1% respectively, P = 0.40. All strictures resolved at the end of the stenting course, but the stenting course was variable from 3 to 22 months. The recurrence rate for stenting courses lasting for up to 120 d was 71.4% and 21.4% for stenting courses of 121 d or over (P = 0.03). There were 28 patients that were treated with a single ERCP with Kaffes, 21 with removal after 120 d and 7 within 120 d. There was a significant improvement in stricture recurrence when the Kaffes was removed after 120 d when a single ERCP was used for the entire stenting course (71.0% vs 10.0%, P = 0.01). CONCLUSION: Utilising a single Kaffes intraductal fully-covered metal stent for at least 4 months is safe and efficacious for the management of post-transplant anastomotic strictures.
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Background and Aim: Obtaining endoscopic biopsies from the ampulla of Vater is important for the diagnosis of lesions that are suspicious for neoplasia. The clinical safety profile is not well defined in the literature. Our aim was to evaluate the procedure-related readmission rate and complications from ampullary biopsy in patients undergoing duodenoscopy and endoscopic retrograde cholangiopancreatography (ERCP). Methods: A retrospective data analysis was performed on adult patients at Austin Hospital who underwent ampullary biopsies between 1 January 2010 and 1 March 12022. Medical records were identified using pathology databases. The electronic health record was reviewed for baseline characteristics including demographics, date, indication for ampullary biopsy, procedure type (duodenoscopy or ERCP), and procedural associated interventions during ERCP. Readmissions to the Austin Emergency Department within 30 days following the biopsy were identified, and complications were noted. Results: A total of 506 records were reviewed and 246 episodes of ampullary biopsy met the inclusion criteria. The procedure-related readmission rate for all episodes was 6.1%, which included pain (3.3%), pancreatitis (2.0%), cholangitis (1.6%), and bleeding (0.8%). Ampullary biopsies with ERCP had a procedure-related readmission rate of 8.4%, whereas ampullary biopsies without ERCP had a rate of 2.2%. Increased readmissions and complications were associated with male sex (P = 0.01 and P = 0.05, respectively). There was no association between the number of biopsies taken and complications. Conclusion: Performing an ampullary biopsy without an associated ERCP carries a low rate of clinical complications and procedure-related readmissions. The combination of ERCP and ampullary biopsy increases the risk four-fold.
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BACKGROUND: Anaesthetic care during upper gastrointestinal (GI) endoscopy has the unique challenge of maintaining ventilation and oxygenation via a shared upper airway. Supplemental oxygen is recommended by international society guidelines, however, the optimal route or rate of oxygen delivery is not known. Various oxygen delivery devices have been investigated to improve oxygenation during upper GI endoscopy, however, these are limited by commercial availability, costs and in some cases, the expertise required for insertion. Anecdotally at our centre, higher flows of supplemental oxygen can safely be delivered via an oxygenating mouthguard routinely used during upper GI endoscopic procedures. AIM: To assess the incidence of hypoxaemia (SpO2 < 90%) in patients undergoing upper GI endoscopy receiving supplemental oxygen using an oxygenating mouthguard at 20 L/min flow compared to standard nasal cannula (SNC) at 2 L/min flow. METHODS: A single centre, prospective, randomised clinical trial at two sites of an Australian tertiary hospital between October 2020 and September 2021 was conducted. Patients undergoing elective upper gastrointestinal endoscopy under deep sedation were randomised to receive supplemental oxygen via high-flow via oxygenating mouthguard (HFMG) at 20 L/min flow or SNC at 2 L/min flow. The primary outcome was the incidence of hypoxaemia of any duration measured by pulse oximetry. Intraprocedural-related, procedural-related, and sedation-related adverse events and patient-reported outcomes were also recorded. RESULTS: Three hundred patients were randomised. Eight patients were excluded after randomisation. 292 patients were included in the intention-to-treat analysis. The incidence of hypoxaemia was significantly reduced in those allocated HFMG. Six patients (4.4%) allocated to HFMG experienced an episode of hypoxaemia, compared to thirty-four (22.1%) patients allocated to SNC (P value < 0.001). No significant difference was observed in the rates of adverse events or patient-reported outcome measures. CONCLUSION: The use of HFMG offers a novel approach to reducing the incidence of hypoxaemia during short upper gastrointestinal endoscopic procedures in low-risk patients undergoing deep sedation.
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Background and Aim: During COVID-19, restrictions to elective endoscopy were introduced worldwide. A reduction in procedures may impact trainees' endoscopy learning. This study aims to assess Australian advanced gastroenterology and general surgery trainees' self-perceived efficacy and knowledge in endoscopy during the pandemic. Methods: All Australian gastroenterology and general surgery trainees in their last 2 years of accredited training were invited to participate through email (2020-2021 and 2021-2022 training cycles). The primary outcome was to assess trainees' self-efficacy and knowledge regarding gastrointestinal endoscopy. Secondary outcomes included subgroup analysis between gastroenterology and general surgery trainees. Self-perceived efficacy was assessed with Likert-scale questions on 20 endoscopy procedures and knowledge was assessed through 21 endoscopy-related multiple choice questions. Results: Eighty-one trainees responded to a self-efficacy questionnaire and 77 responded to the knowledge questionnaire. Over 90% of the trainees were confident or extremely confident in diagnostic endoscopy, but only half demonstrated similar efficacy for therapeutic endoscopy. The efficacy for basic endoscopy procedures was higher for gastroenterology trainees (64.0% vs 51.1%, P < 0.001). Last-year trainee achievement of conjoint committee requirements for upper gastrointestinal endoscopy was achieved in 95.8% of gastroenterology trainees versus 22.2% of surgical trainees (P < 0.001). The median score on the knowledge questionnaire was also higher for the gastroenterology subset (90.5% vs 71.4%, P < 0.001). Conclusion: During COVID-19, endoscopy trainees' self-efficacy in endoscopic diagnostic procedures was achieved for most trainees. The differences in self-perceived efficacy and knowledge between gastroenterology and surgical trainees may be reflective of the different opportunities for learning between the two groups.
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Background and study aims Refractory variceal bleeding is associated with high mortality in patients with chronic liver disease. A fully-covered self-expanding metal stent (SEMS) has been reported to have excellent rates of technical success and initial bleeding control; however, studies to date are small and limited to Europe and Asia. Our aim was to evaluate the efficacy and safety of this SEMS for control of refractory variceal bleeding (VB). Patients and methods A retrospective analysis was undertaken of all patients who received the SX-ELLA Danis SEMS for management of VB at 9 tertiary centers across Australia and New Zealand. A total of 32 SEMS had been deployed in 30 patients (median age 53.3). Results Technical success of SEMS placement was achieved in 100â% of cases, resulting in immediate control of bleeding across 31 of 32 cases (96.9â%). Re-bleeding with SEMS in situ occurred in three of 32 cases (9.4â%). Mean SEMS in-dwelling time was 6.4 days. Delayed SEMS migration occurred in 6.3â% of cases. Interventional radiological therapy for management of varices within 6 weeks was performed in 12 of 30 patients (40â%). Death with SEMS in situ occurred in seven of 30 patients (23.3â%). Seven-day bleeding-related mortality was 16.7â%, 14-day mortality 23.3â%, and 6-week mortality 33.3â%. Three of 30 patients (10â%) received orthotopic liver transplantation following SEMS insertion, including two patients within 6 weeks. Conclusions SX-Danis Ella SEMS is highly effective for immediate control of refractory VB and bridging to definitive therapy because it has excellent technical success rates, appears to be relatively easy to use, and has low rates of serious adverse events.
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Procedimentos Cirúrgicos do Sistema Biliar , Transplante de Fígado , Anastomose Cirúrgica/efeitos adversos , Procedimentos Cirúrgicos do Sistema Biliar/efeitos adversos , Constrição Patológica/etiologia , Constrição Patológica/cirurgia , Humanos , Transplante de Fígado/efeitos adversos , Estudos RetrospectivosRESUMO
BACKGROUND AND AIM: Cholecystectomy and endoscopic retrograde cholangiopancreatography are the gold standard for managing acute cholecystitis and malignant biliary obstruction, respectively. Recent advances in therapeutic endoscopic ultrasound (EUS) have provided alternatives for managing patients in whom these approaches fail, namely, EUS-guided gallbladder drainage (EUS-GB) and EUS-guided bile duct drainage (EUS-BD). We aimed to assess the technical and clinical success of these techniques in the largest multicenter cohort published to date. METHODS: A retrospective, multicenter, observational study involving 17 centers across Australia and New Zealand was conducted. All patients who had EUS-GB or EUS-BD performed in a participating center using a lumen apposing metal stent between 2016 and 2020 were included. Primary outcome was technical success, defined as intra-procedural successful drainage. Secondary outcomes included clinical success and 30-day mortality. RESULTS: One hundred and fifteen patients underwent EUS-GB (n = 49) or EUS-BD (n = 66). EUS-GB was technically successful in 47 (95.9%) while EUS-BD was successful in 60 (90.9%). All failed cases were due to maldeployment of the distal flange outside of the targeted lumen. Clinical success of EUS-GB was achieved in 39 (79.6%). No patients required subsequent cholecystectomy. Clinical success of EUS-BD was achieved in 52 (78.8 %). Thirty-day mortality was 14.3% for EUS-GB and 12.1% for EUS-BD. CONCLUSIONS: EUS-guided gallbladder drainage and EUS-BD are promising alternatives for managing nonsurgical candidates with cholecystitis and malignant biliary obstruction following failed endoscopic retrograde pancreatography. Both techniques delivered high technical success with acceptable clinical success. Further research is needed to investigate the gap between technical and clinical success.
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Ductos Biliares , Vesícula Biliar , Ultrassonografia de Intervenção , Ductos Biliares/diagnóstico por imagem , Ductos Biliares/cirurgia , Drenagem , Vesícula Biliar/diagnóstico por imagem , Vesícula Biliar/cirurgia , Humanos , Estudos Retrospectivos , Stents , Resultado do Tratamento , Ultrassonografia de Intervenção/métodosRESUMO
BACKGROUND: Image-guided radiotherapy (IGRT) has significantly improved the precision in which radiotherapy is delivered in cancer treatment. Typically, IGRT uses bony landmarks and key anatomical structures to locate the tumor. Recent studies have demonstrated the feasibility of peri-tumor fiducials in enabling even more accurate delineation of target and normal tissue. The use of gold coils as fiducials in gastrointestinal tumors has been extensively studied. However, placement requires expertise and specialized endoscopic ultrasound equipment. This article reports the long-term outcomes of using a standard gastroscopy to inject liquid fiducials for the treatment of oesophageal and gastric tumors with IGRT. AIM: To assess the long-term outcomes of liquid fiducial-guided IGRT in a cohort of oesophageal and gastric cancer patients. METHODS: A retrospective cohort study of consecutive adults with Oesophagogastric cancers referred for liquid fiducial placement before definitive/neo-adjuvant or palliative IGRT between 2013 and 2021 at a tertiary hospital in Melbourne, Australia was conducted. Up to four liquid fiducials were inserted per patient, each injection consisting of 0.2-0.5mL of a 1:1 mixture of iodized oil (Lipiodol; Aspen Pharmacare) and n-butyl 2-cyanoacrylate (Histoacryl®; B. Braun). A 23-gauge injector (Cook Medical) was used for the injection. All procedures were performed by or under the supervision of a gastroenterologist. Liquid fiducial-based IGRT (LF-IGRT) consisted of computer-assisted direct matching of the fiducial region on cone-beam computerised tomography at the time of radiotherapy. Patients received standard-IGRT (S-IGRT) if fiducial visibility was insufficient, consisting of bone match as a surrogate for tumor position. Radiotherapy was delivered to 54Gy in 30 fractions for curative patients and up to 45Gy in 15 fractions for palliative treatments. RESULTS: 52 patients were referred for liquid fiducial placement within the study period. A total of 51 patients underwent liquid fiducial implantation. Of these a total of 31 patients received radiotherapy. Among these, the median age was 77.4 years with a range between 57.5 and 88.8, and 64.5% were male. Twenty-seven out of the 31 patients were able to have LF-IGRT while four had S-IGRT. There were no complications after endoscopic implantation of liquid fiducials in our cohort. The cohort overall survival (OS) post-radiotherapy was 19 mo (range 0 to 87 mo). Whilst the progression-free survival (PFS) post-radiotherapy was 13 mo (range 0 to 74 mo). For those treated with curative intent, the median OS was 22.0 mo (range 0 to 87 mo) with a PFS median of 14.0 mo (range 0 to 74 mo). Grade 3 complication rate post-radiotherapy was 29%. CONCLUSION: LF-IGRT is feasible in 87.1% of patients undergoing liquid fiducial placement through standard gastroscopy injection technique. Our cohort has an overall survival of 19 mo and PFS of 13 mo. Further studies are warranted to determine the long-term outcomes of liquid-fiducial based IGRT.
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Neoplasias Gastrointestinais , Radioterapia Guiada por Imagem , Adulto , Óleo Etiodado , Marcadores Fiduciais , Neoplasias Gastrointestinais/diagnóstico por imagem , Neoplasias Gastrointestinais/radioterapia , Gastroscopia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
BACKGROUND AND OBJECTIVES: Patients with locally advanced or metastatic pancreatic ductal adenocarcinoma (A-PDAC) are not candidates for surgical resection and are often offered palliative chemotherapy. The ready availability of a safe and effective tumor sampling technique to provide material for both diagnosis and comprehensive genetic profiling is critical for informing precision medicine in A-PDAC, thus potentially increasing survival. The aim of this study is to examine the feasibility and benefits of routine comprehensive genomic profiling (CGP) of A-PDAC using EUS-FNA material. METHODS: This is a prospective cohort study to test the clinical utility of fresh frozen or archival EUS-FNA samples in providing genetic material for CGP. The results of the CGP will be reviewed at a molecular tumor board. The proportion of participants that have a change in their treatment recommendations based on their individual genomic profiling will be assessed. Correlations between CGP and stage, prognosis, response to treatment and overall survival will also be investigated. This study will open to recruitment in 2020, with a target accrual of 150 A-PDAC patients within 36 months, with a 2-year follow-up. It is expected that the majority of participants will be those who have already consented for their tissue to be biobanked in the Victorian Pancreatic Cancer Biobank at the time of diagnostic EUS-FNA. Patients without archival or biobanked material that is suitable for CGP may be offered a EUS-FNA procedure for the purposes of obtaining fresh frozen material. DISCUSSION: This trial is expected to provide crucial data regarding the feasibility of routine CGP of A-PDAC using EUS-FNA material. It will also provide important information about the impact of this methodology on patients' survival.
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Upper gastrointestinal bleeding from oesophageal or gastric varices is an important medical condition in patients with portal hypertension. Despite the emergence of a number of novel endoscopic and radiologic therapies for oesophagogastric varices, controversy exists regarding the indication, timing and modality of therapy. The aim of this review is to provide a concise and practical evidence-based overview of these issues.
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BACKGROUND AND AIM: Our aim was to evaluate the efficacy and safety of a lumen-apposing metal stent with an electrocautery-enhanced delivery system (EDS-LAMS) for endoscopic ultrasound (EUS)-guided drainage of pancreatic fluid collections (PFCs) in regular clinical practice. METHODS: A retrospective and subsequent prospective analysis was undertaken of all patients who underwent EUS-guided drainage of their PFCs using the EDS-LAMS at 17 tertiary therapeutic endoscopy centers. RESULTS: Two hundred eight cases of EDS-LAMS deployment were attempted in 202 patients (mean age 52.9 years) at time of evaluation. Ninety-seven patients had pancreatic pseudocysts (PPs), 75 walled-off pancreatic necrosis (WOPN), 10 acute peripancreatic fluid collections (APFCs), 6 acute necrotic collections (ANCs), and 14 postoperative collections (POCs). Procedural technical success was achieved in 202/208 cases (97.1%). Maldeployment occurred in 7/208 cases (3.4%). Clinical success was achieved in 142/160 (88.8%) patients (PP 90%, WOPN 85.2%, APFC 100%, ANC 75%, POC 100%). Delayed adverse events included stent migration in 15/202 (7.4%), stent occlusion and infection in 16/202 (7.9%), major bleeding in 4/202 (2%), and buried EDS-LAMS in 2/202 (1%). PFC recurrence occurred in 13/142 (9.2%) patients; 9/202 (4.5%) required surgical or radiological intervention for PFC management after EDS-LAMS insertion. CONCLUSIONS: This large international multicenter study evaluating the EDS-LAMS for drainage of PFCs in routine clinical practice suggests that the EDS-LAMS are safe and effective for drainage of all types of PFCs; however, further endoscopic therapy is often required for WOPN. Major bleeding was a rare complication in our cohort.
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Drenagem , Pancreatopatias , Drenagem/instrumentação , Eletrocoagulação , Humanos , Pessoa de Meia-Idade , Pancreatopatias/cirurgia , Estudos Retrospectivos , StentsRESUMO
BACKGROUND: The Australian Pancreatic Cancer Screening Program (APCSP) offers endoscopic ultrasound surveillance for individuals at increased risk of pancreatic ductal adenocarcinoma (PDAC) with all participants requiring assessment by a Familial Cancer Service before or after study enrolment. METHODS: Individuals aged 40-80 years (or 10 years younger than the earliest PDAC diagnosis) were eligible for APCSP study entry if they had 1) ≥ two blood relatives with PDAC (at least one of first-degree association); 2) a clinical or genetic diagnosis of Hereditary Pancreatitis or Peutz-Jeghers syndrome irrespective of PDAC family history; or 3) a known PDAC predisposition germline pathogenic variant (BRCA2, PALB2, CDKN2A, or Lynch syndrome) with ≥one PDAC-affected first- or second-degree relative. Retrospective medical record review was conducted for APCSP participants enrolled at the participating Australian hospitals from January 2011 to December 2019. We audited the genetic investigations offered by multiple Familial Cancer Services who assessed APCSP participants according to national guidelines, local clinical protocol and/or the availability of external research-funded testing, and the subsequent findings. Descriptive statistical analysis was performed using Microsoft Excel. RESULTS: Of 189 kindreds (285 participants), 50 kindreds (71 participants) had a known germline pathogenic variant at enrolment (BRCA2 n = 35, PALB2 n = 6, CDKN2A n = 3, STK11 n = 3, PRSS1 n = 2, MLH1 n = 1). Forty-eight of 136 (35%) kindreds with no known germline pathogenic variant were offered mutation analysis; 89% was clinic-funded, with increasing self-funded testing since 2016. The relatively low rates of genetic testing performed reflects initial strict criteria for clinic-funded genetic testing. New germline pathogenic variants were detected in five kindreds (10.4%) after study enrolment (BRCA2 n = 3 kindreds, PALB2 n = 1, CDKN2A n = 1). Of note, only eight kindreds were reassessed by a Familial Cancer Service since enrolment, with a further 21 kindreds identified as being suitable for reassessment. CONCLUSION: Germline pathogenic variants associated with PDAC were seen in 29.1% of our high-risk cohort (55/189 kindreds; 82/285 participants). Importantly, 10.4% of kindreds offered genetic testing were newly identified as having germline pathogenic variants, with majority being BRCA2. As genetic testing standards evolve rapidly in PDAC, 5-yearly reassessment of high-risk individuals by Familial Cancer Services is warranted.
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BACKGROUND AND AIM: Telehealth has become the standard of care during the COVID-19 outbreak. This study aimed to assess doctor and patient satisfaction of endoscopy-related telehealth clinics with video consultations. METHODS: A prospective observational study of patients consecutively booked to attend two endoscopy-related telehealth clinics at an ambulatory tertiary care setting was conducted from July to October 2020. Data collected from our previously published study using phone consultations (data collected in April-May 2020) were used as a control arm. The primary outcome (satisfaction) was assessed through the six-question score (6Q_score) as per previous research. Secondary outcomes included failure-to-attend (FTA) rate and perceived necessity of physical examination/in-person follow-up appointment. RESULTS: There were 962 endoscopy clinic appointments between July and October, of which 157 were conducted through video. Data on 127 doctor questionnaires and 94 patient questionnaires were analyzed. The median age (years) of patients reviewed via video [57, interquartile range (IQR) 48-66] was lower than those reviewed via phone (65, IQR 55-74, P < 0.01). Patient average 6Q_score was higher with video compared to phone (85.1% vs 78.4%, P = 0.01), as was doctors' 6Q_score (97.5% vs 91.9%, P = 0.02). FTA rates remained similar between the two assessments (6.4% in April/May and 4.4% between July/October, P = 0.12). The requirement for in-person follow-up/physical examination was identified in two video consultations (1.6%). CONCLUSION: Video consultations during the COVID-19 outbreak demonstrated higher patient and doctor satisfaction compared to phone consultations. There was no significant difference in FTA rates and need for in-person follow-up consultations/physical examination between the telehealth two modalities.
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BACKGROUND AND AIM: During COVID-19 outbreak, restrictions to in-person consultations were introduced with a rise in telehealth. An indirect benefit of telehealth could be better attendance. This study aimed to assess "failure-to-attend" (FTA) rate and satisfaction for two endoscopy-related compulsory telehealth clinics during the COVID-19 outbreak. METHODS: Consecutive patients booked for endoscopy-related telehealth clinics at a tertiary hospital were prospectively assessed. In-person clinic control data were assessed retrospectively. Sample size was calculated to detect an anticipated increase in attendance of 8%. Secondary outcomes included FTA differences between clinics and evaluation of patients and doctors satisfaction. Satisfaction was assessed based on six Likert scale questions used in previous telehealth research and asked to both patients and doctors (6Q_score). This study was exempt from IRB review after institutional IRB review. RESULTS: There were 691 patients booked for appointments in our endoscopy clinics during the study periods (373 in 2020). FTA rates were lowered by half during the compulsory telehealth clinics (12.6% to 6.4%, P < 0.01). The patient 6Q_score was higher for the advanced endoscopy clinic (84.6% vs 73.8%, P < 0.01), while the doctor 6Q_score was similar between both advanced clinics and post endoscopy clinics (91.1% vs 92.5% respectively, P = 0.80). An in-person follow-up consultation was suggested for 3.5% of the appointments, while the necessity of physical examination was flagged in 5.1%. CONCLUSIONS: The use of phone consultations in endoscopy-related clinics during the COVID-19 outbreak has improved FTA rates while demonstrating high satisfaction rates. The need for in-person follow-up consultations and physical examination were low.
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Instituições de Assistência Ambulatorial/organização & administração , Assistência Ambulatorial/estatística & dados numéricos , COVID-19 , Endoscopia do Sistema Digestório , Satisfação do Paciente/estatística & dados numéricos , Exame Físico/estatística & dados numéricos , Consulta Remota , Adulto , Atitude do Pessoal de Saúde , Austrália/epidemiologia , COVID-19/epidemiologia , COVID-19/prevenção & controle , Atenção à Saúde/tendências , Feminino , Humanos , Controle de Infecções/métodos , Masculino , Inovação Organizacional , Consulta Remota/métodos , Consulta Remota/organização & administração , Consulta Remota/estatística & dados numéricos , SARS-CoV-2RESUMO
BACKGROUND AND AIM: Pancreatic cancer (PC) carries a poor prognosis and is often detected at later stages. Screening programs for moderate- and high-risk people are still under debate. We present the results from a prospective study on endoscopic ultrasound (EUS) as a one-off screening tool for pancreatic cancer screening. METHODS: Asymptomatic patients with moderate- or high-risk of PC were invited to participate. Moderate risk consisted of one first-degree and at least one second-degree relative with PC and no PC-associated genetic mutations. High risk consisted of >1 first-degree relatives with PC or PC-associated mutations (i.e. BRCA2, Lynch Syndrome, Familial Atypical Multiple Mole Melanoma Syndrome, STK11, or PALB2). All included patients had genetic counseling and a screening EUS done. Primary outcome was the detection of PC on EUS. Secondary outcomes assessed the evolution of psychological symptoms based on the Impact of Events Scale (IES) and Personal Consequences Questionnaire (PCQ) before and after the screening took place. RESULTS: A total of 122 patients had a screening EUS performed between 2013 and 2019; 60 were male, 55.8 years was the mean age, 78 were at high risk for PC, and 25 had PC-associated mutations. No pancreatic cancers were identified at the one-off EUS screening. Overall, patients' IES/PCQ scores did not change after screening and feedback of no malignancy, with the exception of females (less concerned about PC after screening EUS). CONCLUSIONS: EUS did not detect any PCs in either a moderate- or high-risk population as a one-off screening method. The EUS procedure and genetic counseling improved psychological symptoms for the female subset of this population.
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Mutations in the TRIM8 gene have been described in patients with severe developmental delay, intellectual disability and epilepsy. Only six patients have been described to date. All the previous mutations were truncating variants clustered in the C-terminus of the protein. A previous patient with TRIM8-related epileptic encephalopathy was reported to have nephrotic syndrome. Here we describe the clinical, radiological and histological features of an 8-year-old male patient with a TRIM8 mutation who, in contrast to previous patients, had only mild intellectual disability and well-controlled epilepsy. The patient was found to have proteinuria at 2 years of age. Renal biopsy findings were suggestive of focal segmental glomerulosclerosis. His kidney function declined and peritoneal dialysis was started at 5 years of age. He underwent renal transplant at 7 years of age. Trio-based whole genome sequencing identified a novel de novo heterozygous frameshift mutation in TRIM8 (NM_030912.2) c.1198_1220del, p.(Tyr400ArgfsTer2). This patient is further evidence that TRIM8 mutations cause a syndrome with both neurological and renal features. Our findings suggest the spectrum of TRIM8-related disease may be wider than previously thought with the possibility of milder neurodevelopmental problems and/or a more severe, progressive renal phenotype. We highlight the need for proteinuria screening in patients with TRIM8 mutations.
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Proteínas de Transporte/genética , Glomerulosclerose Segmentar e Focal/genética , Deficiência Intelectual/genética , Mutação , Proteínas do Tecido Nervoso/genética , Proteinúria/genética , Criança , Glomerulosclerose Segmentar e Focal/patologia , Humanos , Deficiência Intelectual/patologia , Masculino , Proteinúria/patologia , SíndromeAssuntos
Neoplasias do Apêndice/patologia , Carcinoma de Células em Anel de Sinete/secundário , Neoplasias Hepáticas/secundário , Neoplasias Peritoneais/secundário , Neoplasias do Apêndice/diagnóstico por imagem , Carcinoma de Células em Anel de Sinete/diagnóstico por imagem , Carcinoma de Células em Anel de Sinete/patologia , Colonoscopia , Fluordesoxiglucose F18 , Humanos , Neoplasias Hepáticas/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Neoplasias Peritoneais/diagnóstico por imagem , Neoplasias Peritoneais/patologia , Tomografia por Emissão de Pósitrons , Compostos RadiofarmacêuticosRESUMO
BACKGROUND: Anastomotic biliary strictures (AS) after orthotopic liver transplantation (OLT) belong to the most common biliary complications and cause the biggest morbidity burden after OLT. Metal stents for benign biliary strictures are gaining acceptance with many published series. Traditional metal stent designs seem to have poor durability in AS after OLT. Novel intra-ductal stents are showing promise in these strictures. As a result, we designed a special stent with an antimigration waist and a short stent length with a long removal string that rests in the duodenum for easy removal. PATIENTS AND METHODS: This is a retrospective multi-centre Australian study of AS after OLT treated with a novel intra-ductal fully covered self-expanding metal stent. From August 2008 to October 2014, records from three liver transplant centres were reviewed. RESULTS: Totally 36 ID-FCSEMS were inserted in 31 cases to treat an AS after OLT. The mean age of the patients was 56 years, and 61 % were male. The mean time of AS presentation after OLT was 20.3 months. Eight out of our 31 patients were previously treated using multiple plastic stenting over time without any success. Treatment with the ID-FCSEMS was performed with an average treatment time of 3.8 months. Stricture resolution was achieved in 100 %. All attempted stents removals were successful without any difficulty. Complications were reported in 6.5 %. It was pleasing that only one case of stent migration (2.8 %) was seen. Follow-up showed seven cases of AS recurrence (24.1 %), and all were treated successfully with repeat ERCP and stenting (some metal, some plastic). CONCLUSION: This novel ID-FCSEMS has a high clinical success and low complication rate, and in particular, there was only one case of stent migration. As a result, this stent type is preferred to traditional metal stents for treating AS after OLT.
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Doenças Biliares/cirurgia , Colangiopancreatografia Retrógrada Endoscópica/instrumentação , Constrição Patológica/cirurgia , Remoção de Dispositivo/métodos , Transplante de Fígado/efeitos adversos , Stents Metálicos Autoexpansíveis , Adulto , Idoso , Austrália , Doenças Biliares/etiologia , Colangiopancreatografia Retrógrada Endoscópica/efeitos adversos , Colestase/etiologia , Constrição Patológica/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva , Estudos Retrospectivos , Fatores de Tempo , Resultado do TratamentoRESUMO
BACKGROUND AND AIMS: The indication for endoscopy to investigate anemia of causes other than iron deficiency is not clear. Increasing numbers of endoscopic procedures for anemia raises concerns about costs to the health system, waiting times, and patient safety. The primary aim of this study was to determine the diagnostic yield of endoscopy in patients referred to undergo investigation for anemia. Secondary aims were to identify additional factors enabling the risk stratification of those likely to benefit from endoscopic investigation, and to undertake a cost analysis of performing endoscopy in this group of patients. METHODS: We performed a retrospective review of endoscopy referrals for the investigation of anemia over a 12-month period at a single center. The patients were divided into three groups: those who had true iron deficiency anemia (IDA), tissue iron deficiency without anemia (TIDWA), or anemia of other cause (AOC). Outcome measures included finding a lesion responsible for the anemia and a significant change of management as a result of endoscopy. A costing analysis was performed with an activity-based costing method. RESULTS: We identified 283 patients who underwent endoscopy to investigate anemia. A likely cause of anemia was found in 31 of 150 patients with IDA (21â%) and 0 patients in the other categories (Pâ<â0.001). A change of management was observed in 35 patients with IDA (23â%), 1 of 14 patients with TIDWA (7.14â%), and 8 of 119 patients with AOC (6.7â%) (Pâ<â0.001). The cost of a single colonoscopy or gastroscopy was approximated to be $â2209. CONCLUSIONS: Endoscopic investigation for non-IDA comes at a significant cost to our institution, equating to a minimum of $â293â797 per annum in extra costs, and does not result in a change of management in the majority of patients. No additional factors could be established to identify patients who might be more likely to benefit from endoscopic investigation. The endoscopic investigation of non-IDA should be minimized.