A non-conditioned bone marrow transplantation mouse model to study clonal hematopoiesis and myeloid malignancies.

Clonal hematopoiesis of indeterminate potential (CHIP) is a condition where blood or bone marrow cells carry mutations associated with hematological malignancies. Individuals with CHIP have an increased risk of developing hematological malignancies, atherosclerotic cardiovascular disease, and all-cause mortality. Bone marrow transplantation (BMT) of cells carrying CHIP mutations into irradiated mice are useful procedures to investigate the dynamics of clonal expansion and potential therapeutic strategies, but myeloablative conditioning can induce confounding effects.

Whole exome sequencing-based homologous recombination deficiency test for epithelial ovarian cancer.

Background: The homologous recombination deficiency (HRD) test is an important tool for identifying patients with epithelial ovarian cancer (EOC) benefit from the treatment with poly(adenosine diphosphate-ribose) polymerase inhibitor (PARPi). Using whole exome sequencing (WES)-based platform can provide information of gene mutations and HRD score; however, the clinical value of WES-based HRD test was less validated in EOC.

Methods: We enrolled 40 patients with EOC in the training cohort and 23 in the validation cohort.

KaRhab: an international online registry for cardiac rhabdomyomas.

Background: Cardiac rhabdomyoma (RHM) is considered one of the most frequent benign heart tumors in children. However, encounters with cardiac RHM in clinical practice remain rare. Clinical information is primarily available in the form of single case reports or smaller studies with a shortage of large-scale reviews encompassing a substantial number of cases.

Diagnosis and management of superficial arteriovenous malformations: French healthcare network's recommendations.

Superficial arteriovenous malformations are rare fast-flow lesions. They consist of arteriovenous shunts, without cellular hyperplasia or proliferation, which develop in the surrounding tissues (cutaneous, subcutaneous, muscular, bone). Although benign, they are among the most severe of superficial malformations.

Genetic diversity of the immunoglobulin heavy chain locus in cohorts of patients affected with SARS-CoV-2.

Background: The Immunoglobulin Heavy Chain (IGH) genomic region is responsible for the production of circulating antibodies and warrants careful investigation for its association with COVID-19 characteristics. Multiple allelic variants within and across different IGH gene segments form a limited set of haplotypes. Previous studies have shown associations between some of these haplotypes and clinical outcomes of COVID-19.

Impact of discontinuation of cephazolin prophylaxis on the incidence of postoperative adverse events in cataract surgery.

Background: Cataract surgeries are increasing annually, making appropriate medical management essential. The routine use of systemic antimicrobial agents for preventing surgical site infections lacks strong evidence and may increase the risk of drug-resistant bacteria and adverse events. This study examined the impact of discontinuing cefazolin (CEZ) administration during the perioperative period of cataract surgery on the incidence of postoperative adverse events and medical costs.

Targeting PCSK9, through an innovative cVLP-based vaccine, enhanced the therapeutic activity of a cVLP-HER2 vaccine in a preclinical model of HER2-positive mammary carcinoma.

Background: HER2-targeted therapies have revolutionized the treatment of HER2-positive breast cancer patients, leading to significant improvements in tumor response rates and survival. However, resistance and incomplete response remain considerable challenges. Proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibition is a novel therapeutic strategy for the management of dyslipidemia by enhancing the clearance of low-density lipoprotein cholesterol receptors, however recent evidence also shows links between PCSK9 and cancer cells.

Multiomics unravels the complexity of male obesity: a prospective observational study.

Background: Obesity is associated with varying degrees of metabolic dysfunction. In this study, we aimed to discover markers of the severity of metabolic impairment in men with obesity via a multiomics approach.

Methods: Thirty-two morbidly men with obesity who were candidates for Roux-en-Y gastric bypass (RYGB) surgery were prospectively followed.

Season of conception and risk of hypertensive disorder during pregnancy.

Background: Hypertensive Disorder during Pregnancy (HDP) is the most prevalent obstetric conditions in maternal health, but the etiology of most cases remains unexplained. Seasonal variations in the conception of HDP may offer insights into the potential seasonal-specific risk factors.

Methods: Data were sourced from the China's National Maternal Near Miss Surveillance System (NMNMSS) between January 1, 2012, and December 31, 2021.

NTHi killing activity is reduced in COPD patients and is associated with a differential microbiome.

Chronic obstructive pulmonary disease (COPD) is a chronic lung disease characterized by airway obstruction and inflammation. Non-typeable Haemophilus influenzae (NTHi) lung infections are common in COPD, promoting frequent exacerbations and accelerated lung function decline. The relationship with immune responses and NTHi are poorly understood.

Exploring socio-demographic determinants of obesity in Jordanian women of reproductive age: insights from a nationwide survey.

Background: In Jordan, obesity has emerged as a significant public health concern, particularly among females, with a prevalence of 43.1%. This rising trend, exacerbates the burden of non-communicable diseases and places increasing strain on the healthcare system.

Polymorphisms and dental age in non-syndromic cleft lip and palate: a cross-sectional study.

Background: Children with non-syndromic cleft lip with or without palate (CL ± P) may present alterations in dental development. The purpose of this cross-sectional study was to compare the dental age (DA) between children with and without CL ± P, and whether single nucleotide polymorphisms (SNPs) in genes encoding growth factors are associated with DA variations.

Methods: Children aged between 5 and 14 years with and without CL ± P were recruited to participate in this study.

The Danish Drowning Cohort: Utstein-style data from fatal and non-fatal drowning incidents in Denmark.

Background: Effective interventions to reduce drowning incidents require accurate and reliable data for scientific analysis. However, the lack of high-quality evidence and the variability in drowning terminology, definitions, and outcomes present significant challenges in assessing studies to inform drowning guidelines. Many drowning reports use inappropriate classifications for drowning incidents, which significantly contributes to the underreporting of drowning.

Fetal cardiac function in pregnancy affected by congenital heart disease: protocol for a multicentre prospective cohort study.

Background: Congenital heart disease (CHD) is the most common fetal malformation, and it can result first in cardiac remodeling and dysfunction and later in cardiac failure and hydrops. A limited number of studies have evaluated cardiac function in fetuses affected by CHD. Functional parameters could potentially identify fetuses at risk of cardiac failure before its development.

COVID-19 status and utilisation of essential maternal and child healthcare services during the pandemic in Ahmedabad, India.

Background: Access to essential healthcare services is pertinent to the achievement of universal health coverage in any nation. The COVID-19 lockdown was used to mitigate the spread of the pandemic. Consequently, there was a reduction in the Utilisation of Basic Healthcare Services (UBHS) in diverse dimensions.

Comparison of Illumina and Oxford Nanopore sequencing data quality for Clostridioides difficile genome analysis and their application for epidemiological surveillance.

Background: The burden of Clostridioides difficile as a nosocomial- and community-acquired pathogen has been increasing over the recent decades, including reports of severe outbreaks. Molecular and virulence genotyping are central for the epidemiological surveillance of this pathogen, but need to balance accuracy and rapid turnaround time of the results. While Illumina short-read sequencing has been adopted as the gold standard to investigate C.

Employment before and after initiation of dialysis or kidney transplantation- a Danish nationwide registry-based cohort study.

Background: Patients treated with chronic dialysis or kidney transplantation have difficulties in maintaining employment. We aimed to estimate employment rates among dialysis and kidney transplant patients from 3 years before to 3 years after initiating dialysis or undergoing transplantation.

Methods: All first-time dialysis and kidney transplantation patients aged 18-65 years in Denmark from 2005 to 2019 were identified using the Danish Nephrological Register and linked with information about social security benefits.

Enhancing individual glomerular filtration rate assessment: can we trust the equation? Development and validation of machine learning models to assess the trustworthiness of estimated GFR compared to measured GFR.

Background: Creatinine-based estimated glomerular filtration rate (eGFR) equations are widely used in clinical practice but exhibit inherent limitations. On the other side, measuring GFR is time consuming and not available in routine clinical practice. We developed and validated machine learning models to assess the trustworthiness (i.

Plasma proteomic evidence for increased β-amyloid pathology after SARS-CoV-2 infection.

Previous studies have suggested that systemic viral infections may increase risks of dementia. Whether this holds true for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus infections is unknown. Determining this is important for anticipating the potential future incidence of dementia.

Toward a biological definition of neuronal and glial synucleinopathies.

Cerebral accumulation of alpha-synuclein (αSyn) aggregates is the hallmark event in a group of neurodegenerative diseases-collectively called synucleinopathies-which include Parkinson's disease, dementia with Lewy bodies and multiple system atrophy. Currently, these are diagnosed by their clinical symptoms and definitively confirmed postmortem by the presence of αSyn deposits in the brain. Here, we summarize the drawbacks of the current clinical definition of synucleinopathies and outline the rationale for moving toward an earlier, biology-anchored definition of these disorders, with or without the presence of clinical symptoms.

Kidney immunology from pathophysiology to clinical translation.

Kidney diseases are widespread and represent a considerable medical, social and economic burden. However, there has been marked progress in understanding the immunological aspects of kidney disease. This includes the identification of distinct intrarenal immunological niches and characterization of kidney disease endotypes according to the underlying molecular immunopathology, as well as a better understanding of the pathological roles for T cells, mononuclear phagocytes and B cells and the renal elements they target.

A comprehensive evaluation of histopathology foundation models for ovarian cancer subtype classification.

Histopathology foundation models show great promise across many tasks, but analyses have been limited by arbitrary hyperparameters. We report the most rigorous single-task validation study to date, specifically in the context of ovarian carcinoma morphological subtyping. Attention-based multiple instance learning classifiers were compared using three ImageNet-pretrained encoders and fourteen foundation models, each trained with 1864 whole slide images and validated through hold-out testing and two external validations (the Transcanadian Study and OCEAN Challenge).

3D scanner's potential as a novel tool for lymphedema measurement in mouse hindlimb models.

Lymphedema is characterized by persistent swelling due to impaired lymphatic function and presents significant challenges in both research and clinical settings. Traditional contact-based measurement techniques such as paw thickness and circumferential measurements using calipers or silk thread are useful but limited by observer variability and measurement accuracy. Non-contact methods, including various imaging techniques, offer improvements but often at higher cost and complexity.