Objective: To characterize clinically and molecularly an early-onset, variably progressive neurodegenerative disorder characterized by a cerebellar syndrome with severe ataxia, gaze palsy, dyskinesia, dystonia, and cognitive decline affecting 11 individuals from 3 consanguineous families. Methods: We used whole-exome sequencing (WES) (families 1 and 2) and a combined approach based on homozygosity mapping and WES (family 3). We performed in vitro studies to explore the effect of the nontruncating SQSTM1 mutation on protein function and the...
Data from: Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophyDiane E. Frank, Frederick J. Schnell, Cody Akana, Saleh H. El-Husayni, Cody A. Desjardins, Jennifer Morgan, Jay S. Charleston, Valentina Sardone, Joana Domingos, George Dickson, Volker Straub, Michela Guglieri, Eugenio Mercuri, Laurent Servais & Francesco Muntoni
Objective To report safety, pharmacokinetics, exon 53 skipping, and dystrophin expression in golodirsen-treated patients with Duchenne muscular dystrophy (DMD) amenable to exon 53 skipping. Methods Part 1 was a randomized, double-blind, placebo-controlled, 12-week dose titration of once-weekly golodirsen; Part 2 is an ongoing, open-label evaluation. Safety and pharmacokinetics were primary and secondary objectives of Part 1. Primary biological outcome measures of part 2 were blinded exon skipping and dystrophin protein production on muscle biopsies (baseline,...
Gastric emergencies in older adults: not always the same old story! A tertiary care emergency department observational cohort studyFausto Rosa, Marcello Covino, Pietro Fransvea, Valerio Cozza, Giuseppe Quero, Claudio Fiorillo, Benedetta Simeoni, Antonio La Greca, Gabriele Sganga, Antonio Gasbarrini, Francesco Franceschi, Guido Costamagna & Sergio Alfieri
Objective: To analyze and compare the clinical outcomes between patients ≥80 years and patients 65-79 years, presented to our Emergency Department (ED) with the two most common Gastric Emergencies (GE) clinical presentation, i.e. gastric bleeding and gastric perforation. Design: Single-center retrospective cohort study. Participants: A total of 1011 patients were enrolled: 421 patients aged ≥80 years were compared to a group of 590 patients aged 65-79 years. Primary and secondary outcome measures: The primary outcome...
Data from: Setup in a clinical workflow and impact on radiotherapy routine of an in vivo dosimetry procedure with an electronic portal imaging deviceJie Li, Angelo Piermattei, Pei Wang, Shengwei Kang, Mingyong Xiao, Bin Tang, Xiongfei Liao, Xin Xin, Mattia Grusio & Lucia Clara Orlandini
High conformal techniques such as intensity-modulated radiation therapy and volumetric-modulated arc therapy are widely used in overloaded radiotherapy departments. In vivo dosimetric screening is essential in this environment to avoid important dosimetric errors. This work examines the feasibility of introducing in vivo dosimetry (IVD) checks in a radiotherapy routine. The causes of dosimetric disagreements between delivered and planned treatments were identified and corrected during the course of treatment. The efficiency of the corrections performed and...
Supplemental Materials: Identification of proteins associated with the early restoration of insulin sensitivity after biliopancreatic diversionCecilia Karlsson, Kristina Wallenius, Anna Walentinsson, Peter Greasley, Tasso Miliotis, Mårten Hammar, Amerigo Iaconelli, Sofia Tapani, Marco Raffaelli, Geltrude Mingrone & Björn Carlsson
ABSTRACT CONTEXT: Insulin resistance (IR) is a risk factor for type 2 diabetes, diabetic kidney disease, cardiovascular disease and non-alcoholic steatohepatitis. Biliopancreatic diversion (BPD) is the most effective form of bariatric surgery for improving insulin sensitivity. OBJECTIVE: To identify plasma proteins correlating with the early restoration of insulin sensitivity after BPD. DESIGN: Prospective single centre study including twenty insulin resistant men with morbid obesity scheduled for BPD. Patient characteristics and blood samples were repeatedly collected...
Agostino Gemelli University Polyclinic5
Hôpital Armand Trousseau1
Shahid Chamran University of Ahvaz1
Duke University School of Medicine1
Ahvaz Jundishapur University of Medical Sciences1
Sichuan Cancer Hospital1
Sapienza University of Rome1
Istituto Superiore di Sanità1
University College London1