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scHiClassifier: a deep learning framework for cell type prediction by fusing multiple feature sets from single-cell Hi-C data.
Brief Bioinform
November 2024
School of Software, Shandong University, No. 1500, Shunhua Road, Hi-Tech Industrial Development Zone, Jinan 250100, Shandong, China.
Single-cell high-throughput chromosome conformation capture (Hi-C) technology enables capturing chromosomal spatial structure information at the cellular level. However, to effectively investigate changes in chromosomal structure across different cell types, there is a requisite for methods that can identify cell types utilizing single-cell Hi-C data. Current frameworks for cell type prediction based on single-cell Hi-C data are limited, often struggling with features interpretability and biological significance, and lacking convincing and robust classification performance validation.
View Article and Find Full Text PDFGenomic insights into a multidrug-resistant Pandoraea apista clinical isolate carrying bla from China.
J Glob Antimicrob Resist
January 2025
Clinical Laboratory Department, Lishui People's Hospital, the Sixth Affiliated Hospital of Wenzhou Medical University, Lishui, China. Electronic address:
Objectives: Pandoraea apista is notable for its multidrug resistance and is frequently identified in patients with cystic fibrosis or other chronic lung diseases, where it contributes to persistent lung infections. In this study, we describe a strain of P. apista harboring the bla, isolated from the bronchoalveolar lavage (BAL) fluid of an inpatient in China.
View Article and Find Full Text PDFNeurodevelopmental and Mental Health Outcomes in a National Clinical Sample of Youth With Sex Chromosome Trisomies Compared With Matched Controls.
J Dev Behav Pediatr
January 2025
eXtraordinarY Kids Clinic and Research Program, Children's Hospital Colorado, Aurora, CO.
Objective: To compare the prevalence of neurodevelopmental and mental health diagnoses in a national sample of youth with sex chromosome trisomies (SCTs) with matched controls.
Methods: Patients in PEDSnet and a diagnosis code mapping to 47,XXY/Klinefelter syndrome (n = 1171), 47,XYY/Double Y syndrome (n = 243), or 47,XXX/Trisomy X syndrome (n = 262) were matched with controls using propensity scores. Generalized estimating equations computed odds ratios (OR) with 95% confidence intervals (CI) for the prevalence of diagnoses within the neurodevelopmental and mental health composites, psychotropic medication prescriptions, and encounters with behavioral health and therapy providers.
Bosutinib for the Treatment of CML-Using it Safely: a Podcast.
Target Oncol
January 2025
Division of Hematology and SCT, Georgia Cancer Centre, Augusta, GA, USA.
Bosutinib is a second-generation tyrosine kinase inhibitor (TKI) approved for use in patients with newly diagnosed Philadelphia chromosome (Ph)-positive chronic phase (CP) chronic myeloid leukemia (CML), as well as Ph-positive CP, accelerated phase, or blast phase (with chemotherapy) CML resistant or intolerant to prior therapy. Clinical trials have shown bosutinib is effective as first-line therapy for patients with CML as well as in later lines of therapy after prior TKI failure. Bosutinib has an established safety profile; however, as with all TKIs approved for the treatment of CML, there are adverse events (AEs) that require management.
View Article and Find Full Text PDFGene therapy in hemophilia: the dawn of a new era.
Res Pract Thromb Haemost
January 2025
Dipartimento di Fisiopatologia Medico-chirurgica e dei Trapianti, Università degli Studi di Milano, Milano, Italia.
Hemophilia A and B are hereditary bleeding disorders associated with the X chromosome, stemming from genetic defects in the coding of coagulation factor (F)VIII or FIX protein, leading to partial or complete deficiency. In the absence of effective prophylaxis, these deficiencies can result in irreversible joint damage, known as hemophilic arthropathy, and subsequent disability. Despite advancements in hemophilia treatment, individuals with severe forms of the disease continue to face a high risk of bleeding, particularly in instances of trauma or major surgical procedures.
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