Publications related to Prenatal testing

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

Evaluation of Auramine O staining and conventional PCR for leprosy diagnosis: A comparative cross-sectional study from Ethiopia

Stewart Cole, Charlotte Avanzi, Philippe Busso

Background ...

PUBLIC LIBRARY SCIENCE2018

Non-invasive diagnosis and metabolic consequences of congenital portosystemic shunts in C57BL/6 J mice

Hongxia Lei, Ana Francisca Leal Silva Soares

This study demonstrates the suitability of magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) for the imaging of congenital portosystemic shunts (PSS) in mice, a vascular abnormality in which mesenteric blood bypasses the liver and i ...

2018

Robust Baseline Measurement for Reliable Fetal Heart Rate Evaluation

Guglielmo Frigo

Cardiotocography is a measurement technique widely adopted to assess fetal well-being during both antepartum and intra-partum stages. It consists of two simultaneously acquired time-series: fetal heart rate and uterine activity. Since visual inspection ana ...

IEEE2018

Behaviour of a scour protection overlay with randomly distributed concrete prisms in plunge pools downstream of mobile barrages for exceptional operation conditions

Anton Schleiss, Giovanni De Cesare, Pedro Filipe De Almeida Manso, Sabine Chamoun, Davide Wüthrich

Uncontrolled scour is affecting multiple mobile dams. The plunge pool of the Chancy-Pougny barrage, located on the Rhone River bordering France and Switzerland, has recently been reported to develop in a potentially unfavourable direction after almost 100 ...

2018

An ecotoxicological view on neurotoxicity assessment

Wolfgang Schulz

The numbers of potential neurotoxicants in the environment are raising and pose a great risk for humans and the environment. Currently neurotoxicity assessment is mostly performed to predict and prevent harm to human populations. Despite all the efforts in ...

SPRINGEROPEN2018

Nanoscale Sensors for Ultrasensitive Label-free Detection of Cancer Biomarkers and Monitoring of Therapeutic Compounds

Ioulia Tzouvadaki

Prostate cancer is a life-threatening malignant disease, one the most common cancer types in men and leading cause of death among men because of cancer. Considering the state of the art for the diagnosis of prostate cancer a man overall has to suffer uncom ...

EPFL2017

Fighting preterm birth with novel surgical tools and biomaterials engineering

Yannick Robert Devaud

With advances in fetal diagnosis and therapy, fetoscopy has become a good option to treat a series of life threatening diseases like twin-to-twin transfusion syndrome or severe congenital diaphragmatic hernia. The efficacy of fetoscopy for those types of d ...

EPFL2017

Extraction of cell-free DNA from urine, using polylysine-coated silica particles

Paul Refinetti, Sho Takano

DNA analysis is used for a variety of purposes, including disease diagnosis and DNA profiling; this involves extracting DNA from living organisms. In this study, we prepared polycationic silica particles to extract DNA that has the negatively charged phosp ...

Springer Heidelberg2017

Genetic and epigenetic inactivation of SESTRIN1 controls mTORC1 and response to EZH2 inhibition in follicular lymphoma

Elisa Oricchio, Natalya Katanayeva, Elena Battistello, Maria Christine Donaldson, Stephanie Jocelyne Sungalee, Giovanni Ciriello

Follicular lymphoma (FL) is an incurable form of B cell lymphoma. Genomic studies have cataloged common genetic lesions in FL such as translocation t(14;18), frequent losses of chromosome 6q, and mutations in epigenetic regulators such as EZH2 Using a focu ...

American Association for the Advancement of Science2017

Potential blindness in children of patients with hereditary bone disease

Mono- and bi-allelic mutations in the low-density lipoprotein receptor related protein 5 (LRP5) may cause osteopetrosis, autosomal dominant and recessive exudative vitreoretinopathy, juvenile osteoporosis, or persistent hyperplastic primary vitreous (PHPV) ...

Springer London Ltd2016