Publications related to Preimplantation genetic diagnosis

Design and in vitro Characterization of a Wearable Multisensing System for Hydration Monitoring

Sandro Carrara, Ata Jedari Golparvar, Ali Meimandi, Sarah Tonello

Dehydration is a frequent condition in the elderly and can lead to serious health complications if not compensated timely. Early diagnosis can be problematic, as medical examinations in the hospital would be needed. Fully wearable low-cost multisensing dev ...

Ieee-Inst Electrical Electronics Engineers Inc2024

Resource-Efficient Continual Learning for Personalized Online Seizure Detection

David Atienza Alonso, Giovanni Ansaloni, José Angel Miranda Calero, Jonathan Dan, Amirhossein Shahbazinia, Flavio Ponzina

Epilepsy, a major neurological disease, requires careful diagnosis and treatment. However, the detection of epileptic seizures remains a significant challenge. Current clinical practice relies on expert analysis of EEG signals, a process that is time-consu ...

IEEE2024

NMR and MS reveal characteristic metabolome atlas and optimize esophageal squamous cell carcinoma early detection

Lijing Xin, Yubo Zhao, Yan Lin, Wei Ye

Metabolic changes precede malignant histology. However, it remains unclear whether detectable characteristic metabolome exists in esophageal squamous cell carcinoma (ESCC) tissues and biofluids for early diagnosis. Here, we conduct NMR- and MS-based metabo ...

Nature Portfolio2024

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

Konstantin Popadin, Valeriia Timonina

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

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

Targeted search for scaling genes reveals matrix metalloproteinase 3 as a scaler of the dorsal-ventral pattern in Xenopus laevis embryos

Daria Korotkova

How embryos scale patterning according to size is still not fully understood. Through in silico screening and analysis of reaction-diffusion systems that could be responsible for scaling, we predicted the existence of genes whose expression is sensitive to ...

Cell Press - Elsevier2022

Agency Deficits in a Human Genetic Model of Schizophrenia: Insights From 22q11DS Patients

Olaf Blanke, Nathan Quentin Faivre, Roy Salomon, Maude Schneider, Oliver Alan Kannape, Mariia Kaliuzhna, Henrique Galvan Debarba

Schizophrenia is a chronic and disabling mental illness characterized by a disordered sense of self. Current theories suggest that deficiencies in the sense of control over one’s actions (Sense of Agency, SoA) may underlie some of the symptoms of schizophr ...

2022

The SNP-Based Profiling of Montecristo Feral Goat Populations Reveals a History of Isolation, Bottlenecks, and the Effects of Management

Elia Vajana

The Montecristo wild goat is an endangered feral population that has been on the homonymous island in the Tuscan Archipelago since ancient times. The origins of Montecristo goats are still debated, with authors dating their introduction either back to Neol ...

MDPI2022

NMR spectroscopy of a single mammalian early stage embryo

Jürgen Brugger, Giovanni Boero, Marco Grisi, Gaurasundar Marc Conley, Kyle Joel Rodriguez

The resolving power, chemical sensitivity and non-invasive nature of NMR have made it an established technique for in vivo studies of large organisms both for research and clinical applications. NMR would clearly be beneficial for analysis of entities at t ...

Academic Press Inc - Elsevier Science2022

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

Challenges and Opportunities of Edge AI for Next-Generation Implantable BMIs

Mahsa Shoaran, Mohammad Ali Shaeri, Arshia Afzal

Neuroscience and neurotechnology are currently being revolutionized by artificial intelligence (AI) and machine learning. AI is widely used to study and interpret neural signals (analytical applications), assist people with disabilities (prosthetic applica ...

IEEE2022

Genome-Wide Association Study of Alzheimer's Disease Brain Imaging Biomarkers and Neuropsychological Phenotypes in the European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery Dataset

Christopher Clark

Alzheimer's disease (AD) is the most frequent neurodegenerative disease with an increasing prevalence in industrialized, aging populations. AD susceptibility has an established genetic basis which has been the focus of a large number of genome-wide associa ...

FRONTIERS MEDIA SA2022

Locomotion of Sensor‐Integrated Soft Robotic Devices Inside Sub‐Millimeter Arteries with Impaired Flow Conditions

Diego Ghezzi, Mahmut Selman Sakar, Lorenzo Francesco John Noseda, Amit Yedidia Dolev, Lucio Feo Pancaldi-Giubbini, Adele Fanelli

One of the grand challenges in interventional cardiology and neuroradiology is to minimize the operation time and risk of damage during catheterization. These two factors drastically increase if the target location resides in small and tortuous vessels. Fl ...

Wiley2022

Genetic, metabolic, and molecular insights into the diverse outcomes of diet-induced obesity in mouse

Alexis Maximilien Bachmann

Overweight and obesity are increasingly common public health issues worldwide, leading to a wide range of diseases from metabolic syndrome to steatohepatitis and cardiovascular diseases. While the increase in the prevalence of obesity is partly attributabl ...

EPFL2021

Rapid Progression of Kidney Dysfunction in People Living With HIV: Use of Polygenic and Data Collection on Adverse Events of Anti-HIV Drugs (D:A:D) Risk Scores

Jacques Fellay, Christian Axel Wandall Thorball

Background In people with human immunodeficiency virus (PWH), it is unknown whether genetic background associates with rapid progression of kidney dysfunction (ie, estimated glomerular filtration rate [eGFR] decrease of >5mL/min/1.73m(2) per year for >= 3 ...

OXFORD UNIV PRESS INC2021

Molecular architecture of the developing mouse brain

Gioele La Manno, Alex Russell Lederer, Irina Khven

The mammalian brain develops through a complex interplay of spatial cues generated by diffusible morphogens, cell-cell interactions and intrinsic genetic programs that result in probably more than a thousand distinct cell types. A complete understanding of ...

NATURE PORTFOLIO2021

High-throughput DNA barcoding of oligochaetes for abundance-based indices to assess the biological quality of sediments in streams and lakes

Benoît Jean Dominique Ferrari, Régis Lionel Vivien

Aquatic oligochaete communities are valuable indicators of the biological quality of sediments in streams and lakes, but identification of specimens to the species level based on morphological features requires solid expertise in taxonomy and is possible o ...

Nature Research2020

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

Identifying neurodevelopmental anomalies of white matter microstructure associated with high risk for psychosis in 22q11.2DS

Maude Schneider, Daniela Maria Zöller, Marie Schaer, Maria Carmela Padula

Disruptions of white matter microstructure have been widely reported in schizophrenia. However, the emergence of these alterations during preclinical stages remains poorly understood. 22q11.2 Deletion Syndrome (22q11.2DS) represents a unique model to study ...

SPRINGERNATURE2020

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