Publications associées à Diagnostic prénatal

Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene

Molybdenum cofactor deficiency type B (MOCODB; #252160) is an autosomal recessive metabolic disorder that has only been described in 37 affected patients. In this report, we describe the presence of an in-frame homozygous variant (c.471_477delTTTAAAAinsG) ...

MDPI2023

Formation of carbonyl compounds during ozonation of lake water and wastewater: Development of a non-target screening method and quantification of target compounds

Urs von Gunten, Joanna Maria Houska

Ozonation of natural waters is typically associated with the formation of carbonyl compounds (aldehydes, ketones and ketoacids), a main class of organic disinfection byproducts (DBPs). However, the detection of carbonyl compounds in water and wastewater is ...

PERGAMON-ELSEVIER SCIENCE LTD2023

Predicting type 2 diabetes risk before and after solid organ transplantation using polygenic scores in a Danish cohort

Jacques Fellay, Christian Axel Wandall Thorball

Type 2 diabetes mellitus (T2DM) can be multifactorial where both genetics and environmental factors play a role. We aimed to investigate the use of polygenic risk scores (PRS) in the prediction of pre-transplant T2DM and post-transplant diabetes mellitus ( ...

Frontiers Media Sa2023

Smart pooling: AI-powered COVID-19 informative group testing

Jorge Andres Madrid Wolff

Massive molecular testing for COVID-19 has been pointed out as fundamental to moderate the spread of the pandemic. Pooling methods can enhance testing efficiency, but they are viable only at low incidences of the disease. We propose Smart Pooling, a machin ...

Nature Portfolio2022

Development and validation of a multiplex real-time qPCR assay using GMP-grade reagents for leprosy diagnosis

Stewart Cole, Charlotte Avanzi, Thyago Leal Calvo

Author summaryLeprosy is a chronic dermato-neurological disease caused by Mycobacterium leprae, an obligate intracellular bacterium. Diagnosis of leprosy often relies on skin examinations for clinical signs, bacilli staining from skin smears and invasive s ...

PUBLIC LIBRARY SCIENCE2022

Early life adoption shows rearing environment supersedes transgenerational effects of paternal stress on aggressive temperament in the offspring

Maria del Carmen Sandi Perez, Guillaume Poirier, Olivia Zanoletti, Sonakshi Gupta

Prenatal experience and transgenerational influences are increasingly recognized as critical for defining the socio-emotional system, through the development of social competences and of their underlying neural circuitries. Here, we used an established rat ...

2021

Addressable Acoustic Actuation of 3D Printed Soft Robotic Microsystems

Mahmut Selman Sakar, Murat Kaynak, Pietro Luciano Jakobus Dirix

A design, manufacturing, and control methodology is presented for the transduction of ultrasound into frequency-selective actuation of multibody hydrogel mechanical systems. The modular design of compliant mechanisms is compatible with direct laser writing ...

2020

MRI-based brain volumetry and retinal optical coherence tomography as the biomarkers of outcome in acute methanol poisoning

Tobias Kober, Bénédicte Marie Maréchal

Background: Basal ganglia lesions are typical findings on magnetic resonance imaging (MRI) of the brain in survivors of acute methanol poisoning. However, no data are available on the association between the magnitude of damaged brain regions, serum concen ...

ELSEVIER2020

Analysis of Inherited Optic Neuropathies

Background Inherited optic neuropathies (IONs) cover a spectrum of clinically and genetically heterogenic conditions. Genetic evaluation of patients with IONs may enable their better clinico-diagnostic assessment and management of the disease. The aim of t ...

2019

Optimal Information Collection Policies in a Markov Decision Process Framework

Thomas Alois Weber

The cost-effectiveness and value of additional information about a health technology or program may change over time because of trends affecting patient cohorts and/or the intervention. Delaying information collection even for parameters that do not change ...

2018