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BACKGROUND AND AIM: Germline mutations of telomere-related genes (TRG) induce multiorgan dysfunction, and liver-specific manifestations have not been clearly outlined. We aimed to describe TRG mutations-associated liver diseases. APPROACH AND RESULTS: Retrospective multicenter analysis of liver disease (transaminases > 30 IU/L and/or abnormal liver imaging) in patients with TRG mutations. Main measurements were characteristics, outcomes, and risk factors of liver disease in a TRG mutations cohort. The prevalence of liver disease was compared to a community-based control group (n = 1190) stratified for age and matched 1:3 for known risk factors of liver disease. Among 132 patients with TRG mutations, 95 (72%) had liver disease, with associated lung, blood, skin, rheumatological, and ophthalmological TRG diseases in 82%, 77%, 55%, 39%, and 30% of cases, respectively. Liver biopsy was performed in 52/95 patients, identifying porto-sinusoidal vascular disease in 48% and advanced fibrosis/cirrhosis in 15%. After a follow-up of 21 months (12-54), ascites, hepato-pulmonary syndrome, variceal bleeding, and HCC occurred in 14%, 13%, 13%, and 2% of cases, respectively. Five-year liver transplantation-free survival was 69%. A FIB-4 score ≥ 3·25 and ≥1 risk factor for cirrhosis were associated with poor liver transplantation-free survival. Liver disease was more frequent in patients with TRG mutations than in the paired control group [80/396, (20%)], OR 12.9 (CI 95%: 7.8-21.3, p < 0.001). CONCLUSIONS: TRG mutations significantly increase the risk of developing liver disease. Although symptoms may be mild, they may be associated with severe disease. Porto-sinusoidal vascular disease and cirrhosis were the most frequent lesions, suggesting that the mechanism of action is multifactorial.
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BACKGROUND: Colorectal cancer (CRC) screening using fecal immunochemical testing (FIT) aims to detect pre-symptomatic colorectal lesions and reduce CRC mortality. AIMS: The objectives of this study were to determine the FIT sensitivity for diagnosis of CRC, the impact of diagnostic circumstances on treatment and survival, and risk factors for interval cancer (IC). METHODS: This population-based study evaluated the 2016-2017 CRC screening campaign in Finistère, France. CRCs were classified according to diagnostic circumstances: screen-detected CRC (SD-CRC), CRC with delayed diagnosis, IC after negative FIT (FIT-IC), post-colonoscopy CRC, CRC in non-responders and CRC in the excluded population. RESULTS: This study included 909 CRCs: 248 SD-CRCs (6% of positive FIT) and 60 FIT-ICs (0.07% of negative FIT). The FIT sensitivity for CRC was 80.5% (CI95%: 76.1-84.9) at the threshold of 30 µg hemoglobin/g feces used in France. In multivariate analysis, proximal (OR:6.73) and rectal locations (OR:7.52) were associated with being diagnosed with FIT-IC rather than SD-CRC. The FIT positivity threshold maximizing the sum of sensitivity and specificity was found to be 17 µg/g, with 14 additional CRCs diagnosed compared to the current threshold. CONCLUSIONS: Our study confirms the good sensitivity of FIT. A decrease of the FIT detection threshold could optimize sensitivity.
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Colonoscopía , Neoplasias Colorrectales , Humanos , Sensibilidad y Especificidad , Neoplasias Colorrectales/patología , Heces , Sangre Oculta , Detección Precoz del Cáncer , Factores de Riesgo , Tamizaje MasivoRESUMEN
BACKGROUND: Whether Peroral Endoscopic Myotomy (POEM) can be proposed as a second-line treatment in patients with achalasia remains to be confirmed in real-life series. OBJECTIVE: This study aimed to compare the efficacy, feasibility and safety of POEM between treatment-naïve patients and patients who had prior endoscopic or surgical therapies for achalasia. METHODS: All consecutive patients who underwent a POEM procedure for achalasia in our centre from June 2015 to September 2018 were included in this retrospective study. They were classified into treatment-naïve patients (POEM1) and patients who had at least one previous endoscopic and/or surgical treatment for achalasia (POEM2). RESULTS: A total of 105 patients were included, 52 in the POEM1 group and 53 in the POEM2 group. Clinical success (defined as an Eckardt score ≤ 3) at 6 months was observed in 93% of POEM1 patients and 84% of POEM2 patients (p = 0.18). Technical success rate was not significantly different between the two groups (100% vs 96%, respectively; p = 0.50). No significant difference was noted in terms of adverse event rate (19% vs 19%, respectively; p = 1.00). Post-procedure pain occurred in 12% of treatment-naive and 9% of non-naïve patients (p = 0.76). The median length of hospital stay was 3 days in both groups (p = 0.17). Symptomatic gastroesophageal reflux occurred in 25% of POEM1 patients and 16% of POEM2 patients (p = 0.24). CONCLUSION: Efficacy, feasibility and safety of POEM are not different between treatment-naïve and non-naïve patients. POEM is a valuable second-line approach in patients with persistent symptoms of achalasia after surgical or endoscopic treatments.
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Acalasia del Esófago , Miotomía , Cirugía Endoscópica por Orificios Naturales , Humanos , Endoscopía/métodos , Acalasia del Esófago/cirugía , Esfínter Esofágico Inferior/cirugía , Esofagoscopía/métodos , Miotomía/métodos , Cirugía Endoscópica por Orificios Naturales/métodos , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
Pancreatic cancer is associated with high mortality rates, and most cases are diagnosed at advanced stages. This study aimed to evaluate the prognostic factors for survival in pancreatic adenocarcinoma. Data from the Finistere registry of digestive database were used in this analysis. This retrospective population-based study included 2117 patients with pancreatic adenocarcinoma diagnosed between 2005 and 2019. Cox regression was used to assess the impact of different prognostic factors. The overall median age was 74 (IQR 65.0−81.0). The majority of pancreatic adenocarcinoma 1120 (52.90%) occurred in the head of the pancreas. The type of surgical resection correlated with age (pancreaticoduodenectomy performed in 13.39% of patients aged under 65 years and only 1.49% of patients aged ≥ 80 years). For the entire cohort, 1-year mortality rate after diagnosis was 77.81%. Chemotherapy was associated with better survival for both operated (HR 0.17 95% CI 0.22; 0.64 p < 0.001) and unoperated patients (HR 0.41 95% CI 0.27; 0.61 p < 0.001). Palliative radiotherapy was associated with improved survival (HR 0.69 95% CI 0.56; 0.85 p < 0.001). Among operated patients, the presence of lung metastases (median 34.06; CI 20.06; 34.66) was associated with better survival compared with liver metastases (median 21.10; CI 18.10; 28.96), peritoneal carcinomatosis (median 11.00; CI 8.53; 14.63), or distant metastases (median 15.16; CI 12.66; 18.13) (p = 0.0001). Age, curative surgery, positive lymph nodes, chemotherapy, and palliative radiotherapy were corelated with overall survival. Surgical resection is the only potentially curative treatment, but less than a quarter of patients were eligible.
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Oncological strategies in the elderly population are debated. The objective of this study was to determine the predictive factors of survival in patients aged 80 years and older with metastatic colon cancer. Data from four digestive tumour registry databases were used in this analysis. This population-based retrospective study included 1115 patients aged 80 years and older with stage IV colon adenocarcinoma diagnosed between 2007 and 2016. Cox regression was used to assess the impact of different prognostic factors. Age was significantly correlated with the surgical treatment (p < 0.001) but not with overall survival. Patients with a low comorbidity burden had better survival than patients with higher comorbidities scores (9.4 (0−123) versus 7.9 (0−115) months) (p = 0.03). Surgery was more common for proximal colon cancer (p < 0.001), but the location of the primary lesion was not correlated with improved survival (p = 0.07). Patients with lung metastases had a better prognosis than those with liver metastases (HR 0.56 95% CI 0.40, 0.77 p < 0.001); multiple organ involvement had the worst survival (HR 1.32 95% CI 1.15, 1.51 p < 0.001). Chemotherapy was associated with improved survival for both operated (HR 0.45 95% CI 0.35, 0.58 p < 0.001) and non-operated patients (HR 0.41 95% CI 0.34, 0.50 p < 0.001). The majority of patients receiving adjuvant treatment had a low comorbidity burden. In our study, the location of metastases but not the primary tumor location had an impact on overall survival. Low comorbidity burden, curative surgery, and chemotherapy had a significant advantage for elderly patients with metastatic colon cancer.
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Importance: Although treatment and prognosis of synchronous liver metastases from colorectal cancer are relatively well known, a comparative description of the incidence, epidemiological features, and outcomes of synchronous and metachronous liver metastases is lacking. The difference in prognosis between patients with synchronous and metachronous liver metastases is controversial. Objective: To investigate temporal patterns in the incidence and outcomes of synchronous vs metachronous liver metastases from colorectal cancer. Design, Setting, and Participants: This population-based cohort study used information from a French regional digestive cancer registry accounting for 1 082 000 inhabitants. A total of 26â¯813 patients with a diagnosis of incident colorectal adenocarcinoma diagnosed between January 1, 1976, and December 31, 2018, were included. Data were analyzed from February 7 to May 20, 2022. Main Outcomes and Measures: Age-standardized incidence was calculated. Univariate and multivariate net survival analyses were performed. Results: Of 26â¯813 patients with colorectal cancer (15â¯032 men [56.1%]; median [IQR] age, 73 [64-81] years), 4546 (17.0%) presented with synchronous liver metastases. The incidence rate of synchronous liver metastases was 6.9 per 100â¯000 inhabitants in men and 3.4 per 100â¯000 inhabitants in women, with no significant variation since 2000. The 5-year cumulative incidence of metachronous liver metastases decreased from 18.6% (95% CI, 14.9%-22.2%) during the 1976 to 1980 period to 10.0% (95% CI, 8.8%-11.2%) during the 2006 to 2011 period. Cancer stage at diagnosis was the strongest risk factor for liver metastases; compared with patients diagnosed with stage II cancer, patients with stage III cancer had a 2-fold increase in risk (subdistribution hazard ratio, 2.42; 95% CI, 2.08-2.82) for up to 5 years. Net survival at 1 year was 41.8% for synchronous liver metastases and 49.9% for metachronous metastases, and net survival at 5 years was 6.2% for synchronous liver metastases and 13.2% for metachronous metastases. Between the first (1976-1980) and last (2011-2016) periods, the adjusted ratio of death after synchronous and metachronous metastases was divided by 2.5 for patients with synchronous status and 3.7 for patients with metachronous status. Conclusions and Relevance: In this study, the incidence of colorectal cancer with synchronous liver metastases changed little over time, whereas there was a 2-fold decrease in the probability of developing metachronous liver metastases. Survival improved substantially for patients with metachronous liver metastases, whereas improvement was more modest for those with synchronous metastases. The differences observed in the epidemiological features of synchronous and metachronous liver metastases from colorectal cancer may be useful for the design of future clinical trials.
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Neoplasias Colorrectales , Neoplasias Hepáticas , Neoplasias Primarias Secundarias , Anciano , Estudios de Cohortes , Neoplasias Colorrectales/patología , Femenino , Humanos , Incidencia , MasculinoRESUMEN
PURPOSE: To evaluate and compare the performance of a trifocal diffractive intraocular lens (IOL) and a lens combining a bifocal diffractive profile and extended depth of focus (EDOF) profile. METHODS: This non-randomized, prospective comparative study included 42 patients (84 eyes) undergoing lens surgery with implantation of either the FineVision HP trifocal IOL (PhysIOL) or TECNIS Synergy bifocal EDOF IOL (Johnson and Johnson Surgical Vision). There were 21 patients (42 eyes) in each group. The primary outcome was reading speed at high contrast and luminance. Secondary outcomes were reading speed at lower contrasts and luminances, visual acuity at all distances (distance, intermediate, and near) with and without correction, and quality of vision. RESULTS: The reading speed at high contrast (100%) and high luminance (100%) was better in the Synergy group (P = .01). This difference between the two IOLs seemed to be preserved at lower contrasts and luminances. There was no statistically significant difference between visual acuities except for monocular uncorrected intermediate visual acuity (P = .046) in favor of the FineVision HP IOL. The mean spherical equivalents in the FineVision HP and Synergy groups were 0.14 ± 0.64 and 0.10 ± 0.33 diopters without significant difference between these means (P = .78). The defocus curve was more dome-shaped for the Synergy IOL. The evaluation of visual symptoms was comparable in both groups. The glare halo (Halometry test; Aston University) was smaller in the FineVision HP group (P = .03). CONCLUSIONS: The Synergy IOL appears to provide better reading speed and is less sensitive to refractive error. Both lenses provided excellent distance, intermediate, and near vision. [J Refract Surg. 2022;38(7):428-434.].
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Lentes Intraoculares , Facoemulsificación , Presbiopía , Humanos , Implantación de Lentes Intraoculares , Satisfacción del Paciente , Presbiopía/cirugía , Estudios Prospectivos , Diseño de Prótesis , Lectura , Refracción OcularRESUMEN
BACKGROUND: Survival of patients with colon cancer has increased in recent years due to advances in treatment and the implementation of multidisciplinary team meetings (MDTm). However, the organization of MDTm can be improved. The objectives of this work were to characterize patients with colon cancer who were not presented in MDTm and to analyse the reasons for their non-presentation. METHODS: The study was based on a retrospective cohort including patients with colon cancer diagnosed between 2014 and 2016. Risk factors for non-presentation in MDTm were investigated after 1:1 matching on age, gender and tumour location, using multivariate analysis. RESULTS: amongst 1616 patients diagnosed with colon cancer, 20.5% were not presented in MDTm. The most common reasons for non-presentation were 'advanced age or poor general condition' (22.6%) and 'superficial tumour' (20.5%), while 20.8% of non-presentation remained unexplained. Non-presentation in MDTm was associated with ECOG PS of 2 (OR 0.51, 95%CI 0.32-0.81, p = 0.005), best supportive care (OR 0.05, 95%CI 0.00-0.38, p = 0.016) and early death (OR 0.09, 95%CI 0.04-0.19, p<0.001). By contrast, patients with symptomatic tumours were more likely to be presented in MDTm than patients participating in mass screening (OR 2.16, 95%CI 1.09-4.32, p = 0.028). Presentation was significantly associated with diagnosis by a digestive surgeon (OR 2.16, 95%CI 1.22-3.92, p = 0.01) and a high UICC stage. CONCLUSIONS: This study identified factors associated with non-presentation in a multidisciplinary team meeting for colon cancer such as an advanced age or a superficial tumour, paving the way for targeted improvements.
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Neoplasias del Colon , Comunicación Interdisciplinaria , Estudios de Cohortes , Neoplasias del Colon/terapia , Humanos , Grupo de Atención al Paciente , Estudios RetrospectivosRESUMEN
BACKGROUND & AIMS: In acute severe autoimmune hepatitis (AS-AIH), the optimal timing for liver transplantation (LT) remains controversial. The objectives of this study were to determine early predictive factors for a non-response to corticosteroids and to propose a score to identify patients in whom LT is urgently indicated. METHODS: This was a retrospective, multicenter study (2009-2016). A diagnosis of AS-AIH was based on: i) Definite or probable AIH based on the simplified IAIHG score; ii) international normalized ratio (INR) ≥1.5 and/or bilirubin >200 µmol/L; iii) No previous history of AIH; iv) Histologically proven AIH. A treatment response was defined as LT-free survival at 90 days. The evolution of variables from corticosteroid initiation (day-D0) to D3 was estimated from: Δ%3 = (D3-D0)/D0. RESULTS: A total of 128 patients were included, with a median age of 52 (39-62) years; 72% were female. Overall survival reached 88%. One hundred and fifteen (90%) patients received corticosteroids, with a LT-free survival rate of 66% at 90 days. Under multivariate analysis, D0-INR (odds ratio [OR] 6.85; 95% CI 2.23-21.06; p <0.001), Δ%3-INR ≥0.1% (OR 6.97; 95% CI 1.59-30.46; p <0.01) and Δ%3-bilirubin ≥-8% (OR 5.14; 95% CI 1.09-24.28; p <0.04) were predictive of a non-response. The SURFASA score: -6.80+1.92∗(D0-INR)+1.94∗(Δ%3-INR)+1.64∗(Δ%3-bilirubin), created by combining these variables, was highly predictive of LT or death (AUC = 0.93) (88% specificity; 84% sensitivity) with a cut-off point of <-0.9. Below this cut-off, the chance of responding was 75%. With a score higher than 1.75, the risk of dying or being transplanted was between 85% and 100%. CONCLUSION: In patients with AS-AIH, INR at the introduction of corticosteroids and the evolution of INR and bilirubin are predictive of LT or death. Within 3 days of initiating corticosteroids, the SURFASA score can identify non-responders who require a referral for LT. This score needs to be validated in a prospective cohort. LAY SUMMARY: The management of patients with acute severe autoimmune hepatitis is highly challenging, particularly regarding their early referral for liver transplantation. We found that international normalized ratio at the initiation of corticosteroid therapy and the evolution of international normalized ratio and bilirubin values after 3 days of therapy were highly predictive of liver transplantation or death. We are thus proposing a score that combines these variables and identifies patients in whom liver transplantation is urgently required.