Is the presence of Merkel cell polyomavirus and human papillomavirus DNA in keratinocyte cancers and precancers associated with HIV status? A case-control study.

The epidemiology and potential pathogenic roles of human papillomavirus (HPV) and Merkel cell polyomavirus (MCV) in keratinocyte cancers (KCs) arising in people living with HIV (PLWH) compared with HIV-negative individuals are poorly understood. These issues were investigated by a case-control study in which the presence of MCV and HPV DNA was identified by polymerase chain reaction in microdissected formalin-fixed paraffin-embedded tissue from PLWH and HIV-negative individuals. The samples comprised 190 cutaneous and genital KCs/precancers (actinic keratoses, n = 43; cutaneous squamous cell carcinoma (cSCC) in situ, n = 24; basal cell carcinoma, n = 78; cSCC, n = 34; penile carcinoma in situ, n = 9; penile SCC, n = 2 from 104 individuals (PLWH, n = 51; HIV-negative, n = 53).

Update of a prognostic survival model in head and neck squamous cell carcinoma patients treated with immune checkpoint inhibitors using an expansion cohort.

Background: Immune checkpoint inhibitors (ICI) treatment in recurrent/metastatic (R/M) head and neck squamous cell carcinoma (HNSCC) offers new therapeutic venues. We have previously developed a predictive survival model in this patient population based on clinical parameters, and the purpose of this study was to expand the study cohort and internally validate the model.

Methods: A single institutional retrospective analysis of R/M HNSCC patients treated with ICI.

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis.

Membranous Nephropathy (MN) is a rare autoimmune cause of kidney failure. Here we report a genome-wide association study (GWAS) for primary MN in 3,782 cases and 9,038 controls of East Asian and European ancestries. We discover two previously unreported loci, NFKB1 (rs230540, OR = 1.

A Unique Panel of Patient-Derived Cutaneous Squamous Cell Carcinoma Cell Lines Provides a Preclinical Pathway for Therapeutic Testing.

Background: Cutaneous squamous cell carcinoma (cSCC) incidence continues to rise with increasing morbidity and mortality, with limited treatment options for advanced disease. Future improvements in targeted therapy will rely on advances in genomic/transcriptomic understanding and the use of model systems for basic research. We describe here the panel of 16 primary and metastatic cSCC cell lines developed and characterised over the past three decades in our laboratory in order to provide such a resource for future preclinical research and drug screening.

miR-4516 predicts poor prognosis and functions as a novel oncogene via targeting PTPN14 in human glioblastoma.

Glioblastomas (GBMs) are the most aggressive primary brain tumors, with an average survival of less than 15 months. Therefore, there is a critical need to develop novel therapeutic strategies for GBM. This study aimed to assess the prognostic value of miR-4516 and investigate its oncogenic functions and the underlying cellular and molecular mechanisms in GBM.

AJAP1 expression modulates glioma cell motility and correlates with tumor growth and survival.

Glioblastoma multiforme (GBM) is one of the most common primary malignant brain tumors. Unraveling the molecular and genetic complexity that determines GBM's pronounced migratory property could provide new options for therapeutic targeting that may significantly complement current surgical and chemoradiation therapy and alter the current poor outcome. In this study, we establish stable AJAP1 overexpressing glioma cells in order to examine in vivo tumor growth.

GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway.

Aberrant O-glycosylation of serum immunoglobulin A1 (IgA1) represents a heritable pathogenic defect in IgA nephropathy, the most common form of glomerulonephritis worldwide, but specific genetic factors involved in its determination are not known. We performed a quantitative GWAS for serum levels of galactose-deficient IgA1 (Gd-IgA1) in 2,633 subjects of European and East Asian ancestry and discovered two genome-wide significant loci, in C1GALT1 (rs13226913, P = 3.2 x 10-11) and C1GALT1C1 (rs5910940, P = 2.

Fine Mapping Implicates a Deletion of CFHR1 and CFHR3 in Protection from IgA Nephropathy in Han Chinese.

An intronic variant at the complement factor H (CFH) gene on chromosome 1q32 (rs6677604) associates with risk of IgA nephropathy (IgAN), but the association signal has not been uniformly replicated in Han Chinese populations. We investigated whether the causal sequence variant resides in the CFH gene or the neighboring complement factor H-related 1 (CFHR1) gene and CFHR3, which harbor an 84-kb combined deletion (CFHR3,1Δ) in linkage disequilibrium with rs6677604. Imputation of 1000 Genomes Project data did not suggest new causal single-nucleotide variants within the CFH cluster.

Genome-wide association study in mice identifies loci affecting liver-related phenotypes including Sel1l influencing serum bile acids.

Unlabelled: Using publicly available data from inbred mouse strains, we conducted a genome-wide association study to identify loci that accounted for liver-related phenotypes between C57BL/6J and A/J mice fed a Paigen diet. We confirmed genome-wide significant associations for hepatic cholesterol (chromosome 10A2) and serum total bile acid concentration (chromosome 12E) and identified a new locus for liver inflammation (chromosome 7C). Analysis of consomic mice confirmed that chromosome 12 A/J alleles accounted for the variance in serum total bile acid concentrations and had pleiotropic effects on liver mass, serum cholesterol, and serum alanine aminotransferase activity.

Key differences identified between actinic keratosis and cutaneous squamous cell carcinoma by transcriptome profiling.

Background: Cutaneous squamous cell carcinoma (cSCC) is one of the most common malignancies in fair-skinned populations worldwide and its incidence is increasing. Despite previous observations of multiple genetic abnormalities in cSCC, the oncogenic process remains elusive. The purpose of this study was to elucidate key molecular events associated with progression from premalignant actinic keratoses (AKs) to invasive cSCC by transcriptome profiling.

Evaluation of disease activity in ankylosing spondylitis; diagnostic value of color Doppler ultrasonography.

Introduction: Spondyloarthropathies including ankylosing spondylitis (AS) require early diagnosis to prevent irreversible changes. Sacroiliitis is a common initial manifestation of AS and is frequently diagnosed by magnetic resonance imaging (MRI). The goal of our study was to assess color Doppler ultrasonography as a potential diagnostic tool in suspected sacroiliitis in comparison with MRI representing the gold standard.

NT5E (CD73) is epigenetically regulated in malignant melanoma and associated with metastatic site specificity.

Background: Novel prognostic biomarkers and therapeutic strategies are urgently required for malignant melanoma. Ecto-5-prime-nucleotidase (NT5E; CD73) overexpression has been reported in several human cancers. The mechanism(s) underlying deregulated expression and the clinical consequences of changes in expression are not known.

Role of iron supplementation in promoting maternal and fetal outcome.

Background: The data comparing daily versus intermittent iron supplementation during pregnancy remain controversial. This study was undertaken to compare the efficacy of daily versus two different intermittent iron supplementation regimes on hematologic markers and birth outcomes in nonanemic pregnant women.

Methods: Two hundred and ten women with singleton pregnancies, no known disease, and hemoglobin levels >11.

Transvaginal sonographic evaluation at different menstrual cycle phases in diagnosis of uterine lesions.

Purpose: Intrauterine lesions (IULs) are a common finding in women of reproductive age, particularly infertile women. Transvaginal sonography (TVS) is a popular tool for IUL detection, but there are conflicting data with respect to its accuracy.

Methods: Five hundred and six women were enrolled into the study.

Effect of Helicobacter pylori infection on pregnancy rates and early pregnancy loss after intracytoplasmic sperm injection.

Background: There is a need to elucidate what affects the implantation and early pregnancy course in pregnancies conceived with assisted reproductive technology (ART) so that pregnancy rates and outcomes can be improved. Our aim was to determine the role of maternal Helicobacter pylori infection.

Material And Methods: We did a prospective study of 187 infertile couples undergoing intracytoplasmic sperm injection (ICSI) and segregated those according to underlying infertility etiology.

Spontaneous massive hemothorax secondary to chest wall chondrosarcoma: a case report.

We present the case of a 30-year-old man with no past history of disease or recent trauma, who was seen in the emergency room after developing sharp pain in the left hemithorax. Chest roentgenogram showed costopherenic angle blunting and an oval mass in the left mediastinum. A computed tomographic scan showed extrapleural mass with coarse calcifications and pleural effusion, confirmed by magnetic resonance imaging.

Lack of utility of transabdominal ultrasound in the detection of gastroesophageal reflux disease-induced esophagitis in comparison with endoscopy.

Background: Although upper gastrointestinal (GI) tract endoscopy is the investigation of choice for patients with suspected gastroesophageal reflux disease (GERD)-induced esophagitis, it is associated with complications and significant patient discomfort. The aim of the current study was to compare the accuracy of transabdominal ultrasonography with upper GI tract endoscopy in the detection of GERD-induced esophagitis.

Materials And Methods: In this descriptive study, 350 patients (mean age, 41.

Prevalence of depression and depressive symptoms in patients with systemic lupus erythematosus: Iranian experience.

Psychiatric disorders including depression represent clinical manifestation of systemic lupus erythematosus (SLE). Recognition of depression in SLE patients is of utmost importance since it is treatable and can be of fatal consequences if unrecognized. This study was conducted to determine the prevalence of depression and depressive symptoms in SLE patients in terms of age, gender, disease duration and severity, and duration of steroid treatment in SLE patients.

Varicocele and nutcracker syndrome: sonographic findings.

Objective: Varicocele is a vascular lesion commonly associated with infertility. Its etiology is only partly understood; hence, the purpose of the study was to establish its correlation with intrinsic anatomic differences and nutcracker syndrome.

Methods: A total of 93 patients with varicocele and 76 patients without varicocele were enrolled.

Diagnostic value of sonohysterography in the determination of fallopian tube patency as an initial step of routine infertility assessment.

Objectives: Infertility is defined as the failure to conceive after 1 year of regular unprotected intercourse. It affects 10% to 15% of couples. Sonohysterography (SHG) is an accurate method for the assessment of fallopian tube patency, reflected in its high positive predictive value compared with hysterosalpingography (HSG) and laparoscopy with chromopertubation.