Causes of death in Prader-Willi syndrome: lessons from 11 years' experience of a national reference center.

Background: In the last 20 years, substantial improvements have been made in the diagnosis, treatment and management of patients with Prader-Willi syndrome (PWS). Few data on causes of death are available since those improvements were made. Our study assessed the causes of death among French patients with PWS over the first 11 years of experience of the nationwide French Reference Center for PWS (FRC-PWS).

Impact of margin status on long-term results of liver resection for hepatocellular carcinoma: single-center time-to-recurrence analysis.

Occult metastasis from the initial tumor and a de novo second primary hepatocellular carcinoma (HCC) were recognized as the main causes for the onset of early and late HCC recurrence, after liver resection (LR). This study aims to compare the time to recurrence after LR for HCC in which a margin ≤ 1 mm or > 1 mm was achieved. A single-center retrospective study involving 256 patients was conducted from June 2005 to June 2019.

Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA).

Introduction: Currently, no treatment that delays with the progression of Friedreich ataxia is available. In the majority of patients Friedreich ataxia is caused by homozygous pathological expansion of GAA repeats in the first intron of the FXN gene. Nicotinamide acts as a histone deacetylase inhibitor.

Crucial Role of Extended Criteria Donors in Deceased Donor Single Kidney Transplantation to Face Chronic Shortage in the Heart of the Mediterranean Basin: A Single-Center Experience.

Background: The gap between organ availability and patients on the waiting list for deceased donor kidney transplants has resulted in the wide use of extended criteria donors (ECDs).We aimed to compare the surgical outcomes of single kidney transplantation (KT) performed at our institute with standard criteria donor (SCD) or ECD grafts, according to the Organ Procurement and Transplantation Network definition.

Patients And Methods: Our retrospective analysis studied 115 adult recipients of KT from January 2016 to July 2018, with kidney grafts procured from adult donors after brain or circulatory death, performed at our institute.

Enhanced Recovery after Implementation of Surgery Protocol in Living Kidney Donors: The ISMETT Experience.

Introduction: Laparoscopic living donor nephrectomy (LLDN) has become the standard procedure for living kidney transplantation. Enhanced recovery after surgery (ERAS) is a multimodal perioperative management aimed at facilitating rapid patient recovery after major surgery by modifying the response to stress induced by exposure to surgery. This association can further reduce hospital stay, surgical stress, and perioperative morbidity of living kidney donors.

Post-Disturbance Genetic Changes: The Impact of the 2010 Mega-Earthquake and Tsunami on Chilean Sandy Beach Fauna.

Earthquake/tsunamis can have profound impacts on species and their genetic patterns. It is expected that the magnitude of this impact might depend on the species and the time since the disturbance occurs, nevertheless these assumptions remain mostly unexplored. Here we studied the genetic responses of the crustacean species Emerita analoga, Excirolana hirsuticauda, and Orchestoidea tuberculata to the 27F mega-earthquake/tsunami that occurred in Chile in February 2010.

Definition and construct validation of clinically relevant cutoffs on the Flare Assessment in Rheumatoid Arthritis (FLARE-RA) questionnaire.

Objective: The Flare Assessment in Rheumatoid Arthritis (FLARE-RA) questionnaire was devised for the detection of flares in patients with RA. We aimed to define construct validity and cut-off(s) for the FLARE-RA questionnaire.

Methods: This cross-sectional study included adult patients with prevalent RA (2010 ACR/EULAR criteria) attending outpatient rheumatology clinics in France (n = 138), Denmark (n = 253), USA (n = 75), and Argentina (n = 105).

Author Correction: Structural basis for delta cell paracrine regulation in pancreatic islets.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Piperacillin/Tazobactam and Antibiotic-Associated Acute Kidney Injury in Critically Ill Children.

Background: There continues to be uncertainty about whether piperacillin/tazobactam (TZP) increases the risk of AKI in critically ill pediatric patients. We sought to compare rates of AKI among critically ill children treated with TZP or cefepime, an alternative frequently used in intensive care units, with and without vancomycin.

Methods: We conducted a retrospective cohort study assessing the risk of AKI in pediatric intensive care unit patients after exposure to vancomycin, TZP, and cefepime, alone or in combination, within 48 hours of admission.

Structural basis for delta cell paracrine regulation in pancreatic islets.

Little is known about the role of islet delta cells in regulating blood glucose homeostasis in vivo. Delta cells are important paracrine regulators of beta cell and alpha cell secretory activity, however the structural basis underlying this regulation has yet to be determined. Most delta cells are elongated and have a well-defined cell soma and a filopodia-like structure.

Integrated Analysis of TP53 Gene and Pathway Alterations in The Cancer Genome Atlas.

The TP53 tumor suppressor gene is frequently mutated in human cancers. An analysis of five data platforms in 10,225 patient samples from 32 cancers reported by The Cancer Genome Atlas (TCGA) enables comprehensive assessment of p53 pathway involvement in these cancers. More than 91% of TP53-mutant cancers exhibit second allele loss by mutation, chromosomal deletion, or copy-neutral loss of heterozygosity.

Unusual Organization of I-BAR Proteins on Tubular and Vesicular Membranes.

Protein-mediated membrane remodeling is a ubiquitous and critical process for proper cellular function. Inverse Bin/Amphiphysin/Rvs (I-BAR) domains drive local membrane deformation as a precursor to large-scale membrane remodeling. We employ a multiscale approach to provide the molecular mechanism of unusual I-BAR domain-driven membrane remodeling at a low protein surface concentration with near-atomistic detail.

Notch signalling: sensor and instructor of the microenvironment to coordinate cell fate and organ morphogenesis.

During development, stem cells give rise to specialised cell types in a tightly regulated, spatiotemporal manner to drive the formation of complex three-dimensional tissues. While mechanistic insights into the gene regulatory pathways that guide cell fate choices are emerging, how morphogenetic changes are coordinated with cell fate specification remains a fundamental question in organogenesis and adult tissue homeostasis. The requirement of cell contacts for Notch signalling makes it a central pathway capable of linking dynamic cellular rearrangements during tissue morphogenesis with stem cell function.

Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene.

Purpose: To describe retinal alterations detected by swept-source optical coherence tomography (SS-OCT) in paediatric patients with Usher syndrome type 1 (USH1) and to compare these findings to previously published reports.

Methods: Thirty-two eyes from 16 patients (11 males and 5 females) with a genetic diagnosis of USH1 because of MYO7A mutations underwent SS-OCT. Patients ranged in age from 4 to 17 years (mean, 11,13 ± 4,29).

Impact on health-related quality of life deterioration-free survival of a first-line therapy combining nab-paclitaxel plus either gemcitabine or simplified leucovorin and fluorouracil for patients with metastatic pancreatic cancer: Results of the randomized phase II AFUGEM GERCOR clinical trial.

Background: The phase II AFUGEM GERCOR trial aimed to assess the efficacy of a first-line therapy combining nab-paclitaxel plus either gemcitabine (gemcitabine group) or simplified leucovorin and fluorouracil (sLV5FU2 group) in patients with previously untreated metastatic pancreatic cancer. Results of progression-free survival at 4 months (primary endpoint) were in favor of the sLV5FU2 group. This paper presents health-related quality of life (HRQoL) data as a secondary endpoint.

In Vitro Effect of Toluidine Blue Antimicrobial Photodynamic Chemotherapy on and Isolated from Ocular Surface Infection.

Purpose: We evaluate the antimicrobial effect of toluidine blue O (TBO)-mediated photodynamic antimicrobial chemotherapy (PACT) on and isolated from ocular surface infection.

Methods: We selected 24 strains of bacteria for this study. The antimicrobial effect of different TBO concentrations, light irradiation, and duration were evaluated.

Concentration, distribution, and influence of aging on the 18 kDa translocator protein in human brain: Implications for brain imaging studies.

Positron emission tomography (PET) imaging of the translocator protein (TSPO) is widely used as a biomarker of microglial activation. However, TSPO protein concentration in human brain has not been optimally quantified nor has its regional distribution been compared to TSPO binding. We determined TSPO protein concentration, change with age, and regional distribution by quantitative immunoblotting in autopsied human brain.

Characteristic and outcomes of patients with pathologic complete response after preoperative treatment in borderline and locally advanced pancreatic adenocarcinoma: An AGEO multicentric retrospective cohort.

Introduction: Following publication of improved patients' outcome using first line FOLFIRINOX for metastatic pancreatic adenocarcinoma, many physicians now prescribe it as neo-adjuvant or induction treatment for borderline and locally advanced pancreatic cancer. A pathologic complete response, rarely seen with previous preoperative regimens, is sometimes observed in these patients. The aim of this study was to assess long-term outcomes of patients presenting pathologic complete response after preoperative FOLFIRINOX usually followed by chemo-radiation therapy for non-metastatic pancreatic adenocarcinoma.

Epidemiology of infective endocarditis in French intensive care units over the 1997-2014 period-from CUB-Réa Network.

Background: Few studies focus only on severe forms of infective endocarditis, for which organ failure requires admission to an intensive care unit (ICU). This study aimed to describe demographical, comorbidities, organ failure, and pathogen-related characteristics in a population of critically ill patients admitted to ICU for infective endocarditis and to identify risk factors of in-ICU mortality.

Methods: Retrospective observational multicenter (N = 34) study of the CUB-Rea register, based on ICD-10 coding rules, between 1997 and 2014 in France including ICU patients managed for infective endocarditis.

Change Across Time in Cancer-Related Traumatic Stress Symptoms of Siblings of Children with Cancer: A Preliminary Investigation.

This pilot study examined changes in cancer-related post-traumatic stress symptoms (PTSS) across time for siblings of children with cancer. Siblings (N = 32; aged 8-18) completed a measure of anxiety, the Child PTSD Symptom Scale (CPSS), and the PTSD section of the Structured Clinical Interview for DSM-IV-TR (SCID) at twelve (SD = .9) and eighteen months (SD = 1.