Publications associées à Diagnostic préimplantatoire

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