Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease.

Bicuspid aortic valve (BAV) with ~1%-2% prevalence is the most common congenital heart defect (CHD). It frequently results in valve disease and aorta dilation and is a major cause of adult cardiac surgery. BAV is genetically linked to rare left-heart obstructions (left ventricular outflow tract obstructions [LVOTOs]), including hypoplastic left heart syndrome (HLHS) and coarctation of the aorta (CoA).

Predictors of AIDS-related death among adult HIV-infected inpatients in Kisangani, the Democratic Republic of Congo.

Introduction: Human Immunodeficiency Virus (HIV) infection continues to be a major public health concern in sub-Saharan Africa. We aimed to evaluate potential factors associated with AIDS-related death among adult HIV-infected inpatients in Kisangani, the Democratic Republic of the Congo (DRC).

Methods: this is a hospital-based retrospective, observational analysis carried out between 1 January 2019 and 31 March 2020 among inpatients HIV, at 12 facilities integrating the HIV prevention and care packages in Kisangani.

Comparison of practicability and effectiveness between unassisted HIV self-testing and directly assisted HIV self-testing in the Democratic Republic of the Congo: a randomized feasibility trial.

Background: HIV self-testing (HIVST) can be performed using directly assisted and unassisted approaches in facilities or communities to reach different populations. The aim of this study was to compare the practicability and effectiveness of the two delivery approaches for HIVST, unassisted HIVST (UH) and directly assisted HIVST (DAH), in the field setting of Kisangani, the Democratic Republic of the Congo (DRC).

Methods: A randomized (1:1), non-blinded, non-inferiority trial using a blood-based and facility-based HIVST method was carried out in four facilities in Kisangani, the DRC, targeting populations at high risk for HIV infection.

Cell Proteins Interacting with the Human Immunodeficiency Virus in Immunoblotting can be Detected by R5- or X4- Tropic Human Immunodeficiency Virus Particles.

Introduction: The present study reported a new immunoblot assay, with revelation by R5- or X4-whole free human immunodeficiency virus (HIV) particles or recombinant gp160.

Materials And Methods: The assay was optimized to identify cell proteins interacting with HIV. Whole cell lysates were prepared from peripheral blood lymphocytes (PBLs), dendritic cells (DC), monocyte-derived macrophage (MDM), and Henrietta Lacks (Hela, wild-type or transfected with DC-specific intracellular adhesion molecule-3-Grabbing Non-Integrin, HeLa) and Human endometrial cells (HEC-1A) lines; HIV particles used were the R5-tropic HIV-1 and the X4-tropic HIV-1.

Acceptability of HIV self-testing in African students: a cross-sectional survey in the Democratic Republic of Congo.

Introduction: The empowerment of young people aged 15-24 years is a key component of an effective AIDS response. HIV self-testing (HIVST) is progressively being implemented in the Democratic Republic of Congo (DRC).

Methods: Socio-demographic and behavioural factors associated with acceptability of HIVST were evaluated among university students in Bunia, DRC.

RNA-Based Therapy Utilizing Oculopharyngeal Muscular Dystrophy Transcript Knockdown and Replacement.

Oculopharyngeal muscular dystrophy (OPMD) is caused by a small expansion of a short polyalanine (polyAla) tract in the poly(A)-binding protein nuclear 1 protein (PABPN1). Despite the monogenic nature of OPMD, no treatment is currently available. Here we report an RNA replacement strategy that has therapeutic potential in cell and C.

Cystathionine as a marker for 1p/19q codeleted gliomas by in vivo magnetic resonance spectroscopy.

Background: Codeletion of chromosome arms 1p and 19q (1p/19q codeletion) highly benefits diagnosis and prognosis in gliomas. In this study, we investigated the effect of 1p/19q codeletion on cancer cell metabolism and evaluated possible metabolic targets for tailored therapies.

Methods: We combined in vivo 1H (proton) magnetic resonance spectroscopy (MRS) measurements in human gliomas with the analysis of a series of standard amino acids by liquid chromatography-mass spectroscopy (LC-MS) in human glioma biopsies.

Zika Virus Infection RIG-ged by Keratinocytes and Fibroblasts.

Zika virus is an emergent virus targeting the skin. Ji-Ae et al. (2018) explore the interactions between Zika virus and skin cells.

Calcium Imaging Reveals Coordinated Simple Spike Pauses in Populations of Cerebellar Purkinje Cells.

The brain's control of movement is thought to involve coordinated activity between cerebellar Purkinje cells. The results reported here demonstrate that somatic Ca imaging is a faithful reporter of Na-dependent "simple spike" pauses and enables us to optically record changes in firing rates in populations of Purkinje cells in brain slices and in vivo. This simultaneous calcium imaging of populations of Purkinje cells reveals a striking spatial organization of pauses in Purkinje cell activity between neighboring cells.

Long Lasting Microvascular Tone Alteration in Rat Offspring Exposed In Utero to Maternal Hyperglycaemia.

Epidemiologic studies have demonstrated that cardiovascular risk is not only determined by conventional risk factors in adulthood, but also by early life events which may reprogram vascular function. To evaluate the effect of maternal diabetes on fetal programming of vascular tone in offspring and its evolution during adulthood, we investigated vascular reactivity of third order mesenteric arteries from diabetic mother offspring (DMO) and control mother offspring (CMO) aged 3 and 18 months. In arteries isolated from DMO the relaxation induced by prostacyclin analogues was reduced in both 3- and 18-month old animals although endothelium (acetylcholine)-mediated relaxation was reduced in 18-month old DMO only.

Clinical features and risk factors for atazanavir (ATV)-associated urolithiasis: a case-control study.

Objectives: Clinical features and risk factors for atazanavir (ATV)-associated urolithiasis have not been fully investigated.

Methods: We reviewed all cases of ATV-containing urolithiasis identified by infrared spectrophotometry among HIV-infected patients over a 5-year period to describe their clinical features and outcome. A case-control study was performed to identify risk factors associated with ATV-associated urolithiasis using univariate and multivariate logistic regression analyses.

Multimodal brain imaging in autism spectrum disorder and the promise of twin research.

Current evidence suggests the phenotype of autism spectrum disorder to be driven by a complex interaction of genetic and environmental factors impacting onto brain maturation, synaptic function, and cortical networks. However, findings are heterogeneous, and the exact neurobiological pathways of autism spectrum disorder still remain poorly understood. The co-twin control or twin-difference design is a potentially powerful tool to disentangle causal genetic and environmental contributions on neurodevelopment in autism spectrum disorder.

How can we explain physician accuracy in assessing patient distress? A multilevel analysis in patients with advanced cancer.

Objective: To examine the determinants of the accuracy with which physicians assess metastatic cancer patient distress, also referred to as their empathic accuracy (EA). Hypothesized determinants were physician empathic attitude, self-efficacy in empathic skills, physician-perceived rapport with the patient, patient distress and patient expressive suppression.

Methods: Twenty-eight physicians assessed their patients' distress level on the distress thermometer, while patients (N=201) independently rated their distress level on the same tool.

Plasma endothelial protein C receptor influences innate immune response in ovarian cancer by decreasing the population of natural killer and TH17 helper cells.

In spite of the growing importance of endothelial protein C receptor/active protein C (EPCR/aPC) in tumor biology, their impact on immunological homeostasis remains largely unexplored. The objective of this study was to assess whether soluble plasma endothelial protein C receptor (sEPCR), which is a regulator of circulating aPC, is involved in innate immune response in cancer patients. In the Ovcar-3 ovarian cancer line, the role of aPC in secretion of cytokines was analyzed.

Hospicells promote upregulation of the ATP-binding cassette genes by insulin-like growth factor-I via the JAK2/STAT3 signaling pathway in an ovarian cancer cell line.

Interaction between tumor cells and their micro-environment has a crucial role in the development, progression and drug resistance of cancer. Our objective was to confirm the role of Hospicells, which are stromal cells from the cancer microenvironment, in drug resistance and tumor cell growth. We demonstrated that soluble factors secreted by Hospicells activate several genes and upregulate the JAK/STAT signaling pathway in ovarian cancer cell lines.

New therapeutic targets to develop molecules active in drug-resistant epilepsies.

We have shown that the glycolytic enzyme glyceraldehyde-3-phosphate dehydrogenase (GAPDH) is the kinase involved in the endogenous phosphorylation of the alpha1 subunit of the gamma-aminobutyric acid (GABA)(A) receptor (GABA(A)R), maintaining GABA(A)-R function. GABA(A)R endogenous phosphorylation is opposed by one or several atypical phosphatases. We have shown in addition, using cerebral tissue obtained during epilepsy surgery and control tissue from patients undergoing brain tumor surgery, that both endogenous phosphorylation and GABA(A)R function are significantly reduced in the "epileptogenic" cerebral cortex when compared to control.

Severity of acute gastroenteritis in infants infected by G1 or G9 rotaviruses.

Background: Group A rotaviruses are the main viral causative agent of acute diarrhea, and cause considerable morbidity in children. G9 rotaviruses have recently emerged all over the world and are thought to give more severe symptoms because of a lack of previous exposure and the absence of maternal antibodies in patients.

Objectives: To determine the clinical severity of G9 infections compared to G1 infections in hospitalized children.

Math in actions: actor mode reveals the true arithmetic abilities of French-speaking 2-year-olds in a magic task.

Our previous studies provide some evidence of between-language effects on arithmetic performance in 2-year-olds. French-speaking children were especially biased by the use of the word un as a cardinal value and as an article in the singular/plural opposition (1 vs. the set 2, 3, .

Sentinel node biopsy helps to diagnose spread of endometrial cancer. A case report.

Background: The sentinel lymph node (SLN) could improve the staging of endometrial cancer.

Case: In a patient with endometrial cancer, preoperative lymphoscintigraphy showed a highly radioactive SLN in the left external iliac chain and a radioactive SLN in the right external iliac chain and at the promontory. Intraoperative lymphatic mapping using blue dye and a hand-held gamma probe showed the same nodes, as well as a blue node near the vena cava.