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Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project.
Mol Genet Metab
December 2024
Department of Molecular Medicine and Medical Biotechnology, Medical School, University of Naples Federico II, 80131 Naples, Italy; CEINGE-Biotecnologie Avanzate Franco Salvatore s.c.ar.l., 80145 Naples, Italy. Electronic address:
Background: Newborn screening (NBS) is a simple, non-invasive test that allows for the early identification of genetic diseases within the first days of a newborn's life. The aim of NBS is to detect potentially fatal or disabling conditions in newborns as early as possible, before the onset of disease symptoms. Early diagnosis enables timely treatments and improves the quality of life for affected patients.
View Article and Find Full Text PDFSex hormone-dependent host-microbiome interactions and cardiovascular risk (XCVD): design of a longitudinal multi-omics cohort study.
BMJ Open
January 2025
Experimental and Clinical Research Center, Charité - Universitätsmedizin Berlin and Max Delbrück Center for Molecular Medicine, Berlin, Germany.
Introduction: Cardiovascular diseases (CVDs) present differently in women and men, influenced by host-microbiome interactions. The roles of sex hormones in CVD outcomes and gut microbiome in modifying these effects are poorly understood. The XCVD study examines gut microbiome mediation of sex hormone effects on CVD risk markers by observing transgender participants undergoing gender-affirming hormone therapy (GAHT), with findings expected to extrapolate to cisgender populations.
View Article and Find Full Text PDFSynthesis and pharmacological evaluation of natural product diphyllin derivatives against head and neck squamous cell carcinoma.
Eur J Med Chem
December 2024
Department of Oral and Maxillofacial-Head and Neck Oncology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, College of Stomatology, Shanghai Jiao Tong University, National Center for Stomatology, National Clinical Research Center for Oral Diseases, Shanghai Key Laboratory of Stomatology, Shanghai Research Institute of Stomatology, Shanghai, 200011, China; Digital Diagnosis and Treatment Innovation Center for Cancer, Institute of Translational Medicine, Shanghai Jiao Tong University, Shanghai, 200240, China. Electronic address:
Head and neck squamous cell carcinoma (HNSCC) is one of the most common malignant tumors, but clinical drug treatments are limited. The natural product diphyllin was identified as a lead compound suppressing the proliferation of HNSCC cells through phenotypic screening of natural product library. However, further developments of diphyllin as an anti-HNSCC agent were restricted by the weak bioactivity and poor metabolic stability.
View Article and Find Full Text PDFHeating up three cold cases in Norway using investigative genetic genealogy.
Forensic Sci Int Genet
December 2024
Department of Forensic Sciences, Oslo University Hospital, Oslo, Norway.
With the advent of commercial DNA databases, investigative genetic genealogy (IGG) has emerged as a powerful forensic tool, rivalling the impact of STR analyses, introduced four decades ago. IGG has been frequently applied in the US and tested in other countries, but never in Norway. Here, we apply IGG to three cold criminal cases and successfully identify the donor of the DNA in two of these cases.
View Article and Find Full Text PDFsp. nov., isolated from human epidermis.
Int J Syst Evol Microbiol
January 2025
Department of Bio Health Science, Changwon National University, Changwon, Gyeongnam 51140, Republic of Korea.
Five pink-pigmented bacterial strains, isolated from human skin and classified within the genus , were examined. Among them, four were identified as , while strain OT10 was deemed to be a potential novel species. Strain OT10 exhibited characteristics, such as Gram-stain-negative, oxidase positive, motile, strictly aerobic and rod shaped.
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