Δευτέρα 4 Ιουνίου 2018

A novel STK11 missense mutation (c.346G > T) causing Peutz–Jeghers syndrome in a Chinese male with a negative family history



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Non-Cirrhotic Portal Hypertension: A possibly benign but complicated disease



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Progressive multiple sclerosis patients have a higher burden of autonomic dysfunction compared to relapsing remitting phenotype

Multiple sclerosis (MS) is an idiopathic demyelinating disorder of the central nervous system. It most commonly affects young individuals, between 20 and 40 years-of-age and represents the leading cause of non-traumatic neurologic disability in young adults (Edmonds et al., 2010). Although the exact etiology is unknown, there is a complex interaction between several environmental factors and a distinct genetic susceptibility which results in demyelinating lesions, the pathological hallmark of MS (Compston and Coles, 2008).

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Progressive multiple sclerosis patients have a higher burden of autonomic dysfunction compared to relapsing remitting phenotype

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Publication date: Available online 4 June 2018
Source:Clinical Neurophysiology
Author(s): Ivan Adamec, Luka Crnošija, Anamari Junaković, Magdalena Krbot Skorić, Mario Habek
ObjectiveTo determine autonomic dysfunction (AD) differences in patients with relapsing remitting multiple sclerosis (pwRRMS) and progressive MS (pwPMS).MethodsComposite autonomic scoring scale (CASS) and heart rate variability (HRV) were performed in 40 pwRRMS and 30 pwPMS.ResultspwPMS had a significantly higher sudomotor index and total CASS score compared to pwRRMS (p<0.001 and p<0.001, respectively). Disease duration positively correlated with sudomotor index and total CASS (rs=0.409, p<0.001 and rs=0.472, p<0.001, respectively), while the Expanded Disability Status Scale (EDSS) positively correlated with sudomotor index and total CASS (rs=0.411, p<0.001 and rs=0.402, p=0.001, respectively) in all patients. Type of multiple sclerosis (pwRRMS or pwPMS) corrected for age, sex and disease duration, was a statistically significant predictor of CASS value (B=1.215, p=0.019). Compared to pwRRMS, pwPMS had a significantly lower standard deviation of NN intervals (SDNN), low frequency (LF), and high frequency (HF), during both the supine and tilt-up phases (all p-values <0.006). pwPMS had a significantly lower LF/HF (p=0.008) during tilt-up.ConclusionThere is a significant difference in autonomic function in pwRRMS and pwPMS; with pwPMS having a higher burden of AD, which is particularly evident for sweating dysfunction.SignificanceFurther research is needed to establish whether parasympathetic and sudomotor dysfunction may serve as markers of progressive MS.



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The role of endoscopic treatment of pancreatic duct disruption in patients with walled-off pancreatic necrosis

Abstract

Background

The place of endoscopic techniques in the treatment of main pancreatic duct (MPD) disruption arising in the course of acute necrotizing pancreatitis (ANP) remains unclear. The aim of this study was to describe the findings of endoscopic retrograde pancreatography (ERP) in patients with walled-off necrosis (WON). It was attempted to evaluate the role of endoscopic treatment of pancreatic duct disruption in patients with WON.

Methods

The retrospective analysis of results and complications with particular emphasis to all ERP procedures in the group of 226 patients was conducted, which underwent endoscopic treatment of symptomatic WON between years 2001 and 2016 in the Department of Gastroenterology and Hepatology of Medical University of Gdańsk.

Results

ERP was performed in 204/226 (90.27%) patients. Partial and complete disruption of the MPD were identified in 103 (50.49%) and 63 (30.89%) out of 204 patients, respectively. Endoscopic treatment was used in all 166 patients with MPD disruption. The success of endoscopic treatment of MPD disruption was achieved in 138/161 (85.71%) patients with WON. The therapeutic success of WON endotherapy was achieved in 214/226 (94.69%) patients. The mean follow-up duration was 56 (SD = 37.06) [range 14–158] months. Long-term success of treatment of WON was achieved in 182/226 (80.53%) patients.

Conclusions

MPD disruption occurs in the majority of patients with WON. Partial disruption of the MPD is more frequent than complete disruption of the duct. This study conducted on a large group of patients demonstrated that prosthesis insertion into the MPD in patients with disruption of the MPD in the course of ANP is one of the key elements in endoscopic treatment of WON. Passive transpapillary drainage is an effective method of treating MPD disruptions, which improves long-term outcomes of endoscopic treatment in patients with WON.



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Laparoscopic common bile duct exploration in patients with previous upper abdominal surgery

Abstract

Background

Although patients with previous upper abdominal surgery are no longer considered as a contraindication in laparoscopic surgery, laparoscopic common bile duct exploration (LCBDE) for these patients is still controversial. The aim of this study was to evaluate the safety and effectiveness of LCBDE for patients with previous upper abdominal surgery.

Methods

Two hundred and seventeen patients with common bile duct stones who underwent LCBDE in our institution from January 2010 to September 2017 were enrolled in the retrospective study. They were divided into two groups: group A, with previous upper abdominal surgery (n = 50) and group B, without previous upper abdominal surgery (n = 167). Patients' demographic, intraoperative, and postoperative outcomes were retrospectively analyzed.

Results

Group A exhibited a longer operative time compared to group B (179.7 ± 61.5 vs. 156.0 ± 46.8 min, p = 0.014). There was no significant difference in intraoperative blood loss (123.9 ± 99.5 vs. 99.5 ± 84.7 mL, p = 0.087), postoperative hospital stay (7.4 ± 2.6 vs. 6.8 ± 2.3 d, p = 0.193), and overall complication rate (8.0 vs. 5.4%, p = 0.732) between the two groups. There was no mortality in both groups. The initial stone clearance rate showed no significant difference between the two groups (98.0 vs. 98.2%, p = 1.000), and the final stone clearance rate was 100% in both groups (p = 1.000). The stone recurrence rate had no significant difference between the two groups (2.0 vs. 2.4%, p = 1.000). The conversion rate was comparable between group A and group B (6.0 vs. 4.8%, p = 0.718).

Conclusions

LCBDE is a safe and feasible procedure for patients with previous upper abdominal surgery. The keys of this procedure are carefully separating the adhesions and clearly exposing the common bile duct, and using a variety of methods to remove the stones.



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Additional value of EUS in oesophageal cancer patients staged N0 on PET/CT: validation of a prognostic model

Abstract

Background

Lymph node metastases are a major prognostic indicator in oesophageal cancer. Radiological staging largely influences treatment decisions and is becoming more reliant on PET and CT. However, the sensitivity of these modalities is suboptimal and is known to under-stage disease. The primary aim of this study was to validate a published prognostic model in oesophageal cancer patients staged N0 with PET/CT, which showed that EUS nodal status was an independent predictor of survival. The secondary aim was to assess the prognostic significance of pathological lymph node metastases in this cohort.

Methods

An independent validation cohort included 139 consecutive patients from a regional upper gastrointestinal cancer network staged N0 with PET/CT between 1st January 2013 and 31st June 2015. Replicating the original study, two Cox regression models were produced: one included EUS T-stage and EUS N-stage, and one included EUS T-stage and EUS N0 versus N+. The primary outcome of the prognostic model was overall survival (OS). Kaplan–Meier analysis assessed differences in OS between pathological node-negative (pN0) and node-positive (pN+) groups. A p value of < 0.05 was considered statistically significant.

Results

The mean OS of the validation cohort was 29.8 months (95% CI 27.1–35.2). EUS T-stage was significantly and independently associated with OS in both models (p = 0.011 and p = 0.012, respectively). EUS N-stage and EUS N0 versus N+ were not significantly associated with OS (p = 0.553 and p = 0.359, respectively). There was a significant difference in OS between pN0 and pN+ groups (χ2 13.315, df 1, p < 0.001).

Conclusion

Lymph node metastases have a significant detrimental effect on OS. This validation study did not replicate the results of the developed prognostic model but the continued benefit of EUS in patients staged N0 with PET/CT was demonstrated. EUS remains a valuable component of a multi-modality approach to oesophageal cancer staging.



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