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Clinical re-biopsy of segmental gains—the primary source of preimplantation genetic testing false positives
PurposeDoes re-biopsy of blastocysts classified as abnormal (ABN) due to segmental aneuploidy (SA) have clinical utility?
MethodsThe live birth (LB)...
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The penicillin binding protein 1A of Helicobacter pylori, its amoxicillin binding site and access routes
BackgroundAmoxicillin-resistant H. pylori strains are increasing worldwide. To explore the potential resistance mechanisms involved, the 3D...
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Mutational Mosaics of Cell-Free DNA from Pancreatic Cyst Fluids
BackgroundPancreatic cyst fluids (PCFs) enriched in tumor-derived DNA are a potential source of new biomarkers. The study aimed to analyze germinal...
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Monocyte, neutrophil, and whole blood transcriptome dynamics following ischemic stroke
BackgroundAfter ischemic stroke (IS), peripheral leukocytes infiltrate the damaged region and modulate the response to injury. Peripheral blood cells...
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Sudden unexpected postnatal collapse and BUB1B mutation: first forensic case report
Sudden unexpected postnatal collapse (SUPC) is a sudden collapse of the clinical conditions of a full-term or near-term newborn, within the first 7...
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Genetic analysis of 18 families with tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is mainly caused by variants in TSC1 and TSC2, which encodes hamartin protein and tuberin protein, respectively....
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Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report
BackgroundPrader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by the loss of paternally expressed genes in the human...
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Refined diagnosis of hydatidiform moles with p57 immunohistochemistry and molecular genoty**: updated analysis of a prospective series of 2217 cases
Immunohistochemical analysis of p57 expression and molecular genoty** accurately subclassify molar specimens into complete hydatidiform mole (CHM)...
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Embryo Culture Medium Has No Impact on Mosaicism Rates: a Sibling Oocyte Study
Human embryos cultured in vitro can contain two or more cytogenetically distinct cell lineages known as “chromosomal mosaicism”. Since mosaicism is...
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Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles
Hydatidiform moles are rare and thus most pathologists and geneticists have little experience with their diagnosis. It is important to promptly and...
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Investigation of Global Gene Expression of Human Blastocysts Diagnosed as Mosaic using Next-generation Sequencing
Embryos are diagnosed as mosaic if their chromosomal copy number falls between euploid and aneuploid. The purpose of this study was to investigate...
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Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome
BackgroundThe BUB 1 mitotic checkpoint serine/threonine kinase B (BUB1B) gene encodes a key protein in the mitotic spindle checkpoint, which acts as...
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Utilization of standardized preimplantation genetic testing for aneuploidy (PGT-A) via artificial intelligence (AI) technology is correlated with improved pregnancy outcomes in single thawed euploid embryo transfer (STEET) cycles
PurposeTo investigate the role of standardized preimplantation genetic testing for aneuploidy (PGT-A) using artificial intelligence (AI) in patients...
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Co-targeting leukemia-initiating cells and leukemia bulk leads to disease eradication
According to a hierarchical model, targeting leukemia-initiating cells (LICs) was speculated to achieve complete remission (CR) or cure. Nonetheless,...
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Neuroscience in addiction research
The prevention and treatment of addiction (moderate to severe substance use disorder—SUD) have remained challenging because of the dynamic and...
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Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia
ObjectiveTo characterize the CYP21A2 gene mutations in children with classic congenital adrenal hyperplasia (CAH).
MethodsA prospective,...
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Gene Therapy for Neurofibromatosis Type 2-Related Schwannomatosis: Recent Progress, Challenges, and Future Directions
Neurofibromatosis type 2 ( NF2 )-related schwannomatosis is a rare autosomal dominant monogenic disorder caused by mutations in the NF2 gene. The...
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Anti-Saccharomyces cerevisiae Antibodies Are Only Modestly More Common in Subjects Later Develo** Crohn's Disease
BackgroundThe pathogenic processes in the preclinical phase of inflammatory bowel disease (IBD) are mainly unknown.
AimsTo study typical antibodies...
