The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

4 év 10 hónap ago
The relevance of registries as a key component for developing clinical research for rare diseases (RD) and improving patient care has been acknowledged by most stakeholders. As recent studies pointed to severa...
Marie De Antonio, Céline Dogan, Ferroudja Daidj, Bruno Eymard, Jack Puymirat, Jean Mathieu, Cynthia Gagnon, Sandrine Katsahian, Dalil Hamroun and Guillaume Bassez

Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health

4 év 10 hónap ago
The clinical heterogeneity of the 22q11.2 Deletion Syndrome (22q11.2DS – OMIM, #188400 and #192430) is a universal challenge leading to diagnostic delay. The aim of this study was to evaluate a low cost strate...
Ilária Cristina Sgardioli, Fabíola Paoli Monteiro, Paulo Fanti, Társis Paiva Vieira and Vera Lúcia Gil-da-Silva-Lopes

The XN-30 hematology analyzer for rapid sensitive detection of malaria: a diagnostic accuracy study

4 év 10 hónap ago
Accurate and timely diagnosis of malaria is essential for disease management and surveillance. Thin and thick blood smear microscopy and malaria rapid diagnostic tests (RDTs) are standard malaria diagnostics, ...
Annelies Post, Berenger Kaboré, Isaie J. Reuling, Joel Bognini, Wouter van der Heijden, Salou Diallo, Palpouguini Lompo, Basile Kam, Natacha Herssens, Kjerstin Lanke, Teun Bousema, Robert W. Sauerwein, Halidou Tinto, Jan Jacobs, Quirijn de Mast and Andre…

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

4 év 10 hónap ago
Williams Beuren syndrome (WBS) is a multiple malformations/intellectual disability (ID) syndrome caused by 7q11.23 microdeletion and clinically characterized by a typical neurocognitive profile including exces...
Julie Masson, Caroline Demily, Nicolas Chatron, Audrey Labalme, Pierre-Antoine Rollat-Farnier, Caroline Schluth-Bolard, Brigitte Gilbert-Dussardier, Fabienne Giuliano, Renaud Touraine, Sylvie Tordjman, Alain Verloes, Giuseppe Testa, Damien Sanlaville,…

Who says “no” to participating in stroke clinical trials and why: an observational study from the Vancouver Stroke Program

4 év 10 hónap ago
Successful stroke trials require adequate recruitment. In this observational study, we assessed reasons for refusal to provide informed consent in eligible patients approached for clinical trial participation ...
Zoe R. O’Neill, Halina M. Deptuck, Lauren Quong, Genoveva Maclean, Karina Villaluna, Princess King-Azote, Mukul Sharma, Ken Butcher, Robert G. Hart and Thalia S. Field

Evaluation of the effect of oral taurine supplementation on fasting levels of fibroblast growth factors, β-Klotho co-receptor, some biochemical indices and body composition in obese women on a weight-loss diet: a study protocol for a double-blind,…

4 év 10 hónap ago
Taurine (Tau) is involved in many biochemical functions such as regulation of glucose and lipid metabolism, enhancement of energy expenditure, anti-inflammatory effects and appetite control. The most important...
Fatemeh Haidari, Maryam Asadi, Javad mohammadi-asl and Kambiz Ahmadi-Angali

Real-time foot clearance biofeedback to assist gait rehabilitation following stroke: a randomized controlled trial protocol

4 év 10 hónap ago
The risk of falling is significantly higher in people with chronic stroke and it is, therefore, important to design interventions to improve mobility and decrease falls risk. Minimum toe clearance (MTC) is the...
Rezaul Begg, Mary P. Galea, Lisa James, W. A. Tony Sparrow, Pazit Levinger, Fary Khan and Catherine M. Said

An integrated approach to processing WHO-2016 verbal autopsy data: the InterVA-5 model

4 év 10 hónap ago
Verbal autopsy is an increasingly important methodology for assigning causes to otherwise uncertified deaths, which amount to around 50% of global mortality and cause much uncertainty for health planning. The ...
Peter Byass, Laith Hussain-Alkhateeb, Lucia D’Ambruoso, Samuel Clark, Justine Davies, Edward Fottrell, Jon Bird, Chodziwadziwa Kabudula, Stephen Tollman, Kathleen Kahn, Linus Schiöler and Max Petzold

Current challenges in the management of patients with sickle cell disease – A report of the Italian experience

4 év 10 hónap ago
Sickle cell disease (SCD) is an inherited red blood cell disorder caused by a structural abnormality of hemoglobin called sickle hemoglobin (HbS). Clinical manifestations of SCD are mainly characterized by chr...
Giovanna Russo, Lucia De Franceschi, Raffaella Colombatti, Paolo Rigano, Silverio Perrotta, Vincenzo Voi, Giovanni Palazzi, Carmelo Fidone, Alessandra Quota, Giovanna Graziadei, Antonello Pietrangelo, Valeria Pinto, Giovan Battista Ruffo, Francesco…

Computational determination of hERG-related cardiotoxicity of drug candidates

4 év 11 hónap ago
Drug candidates often cause an unwanted blockage of the potassium ion channel of the human ether-a-go-go-related gene (hERG). The blockage leads to long QT syndrome (LQTS), which is a severe life-threatening c...
Hyang-Mi Lee, Myeong-Sang Yu, Sayada Reemsha Kazmi, Seong Yun Oh, Ki-Hyeong Rhee, Myung-Ae Bae, Byung Ho Lee, Dae-Seop Shin, Kwang-Seok Oh, Hyithaek Ceong, Donghyun Lee and Dokyun Na

Prefix-free parsing for building big BWTs

4 év 11 hónap ago
High-throughput sequencing technologies have led to explosive growth of genomic databases; one of which will soon reach hundreds of terabytes. For many applications we want to build and store indexes of these ...
Christina Boucher, Travis Gagie, Alan Kuhnle, Ben Langmead, Giovanni Manzini and Taher Mun

Childhood generalized specific phobia as an early marker of internalizing psychopathology across the lifespan: results from the World Mental Health Surveys

4 év 11 hónap ago
Specific phobia (SP) is a relatively common disorder associated with high levels of psychiatric comorbidity. Because of its early onset, SP may be a useful early marker of internalizing psychopathology, especi...
Ymkje Anna de Vries, Ali Al-Hamzawi, Jordi Alonso, Guilherme Borges, Ronny Bruffaerts, Brendan Bunting, José Miguel Caldas-de-Almeida, Alfredo H. Cia, Giovanni De Girolamo, Rumyana V. Dinolova, Oluyomi Esan, Silvia Florescu, Oye Gureje, Josep Maria Haro,…

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