Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.

Purpose: BCL11B-related disorder (BCL11B-RD) arises from rare genetic variants within the BCL11B gene, resulting in a distinctive clinical spectrum encompassing syndromic neurodevelopmental disorder, with or without intellectual disability, associated with facial features and impaired immune function. This study presents an in-depth clinico-biological analysis of 20 newly reported individuals with BCL11B-RD, coupled with a characterization of genome-wide DNA methylation patterns of this genetic condition.

Methods: Through an international collaboration, clinical and molecular data from 20 individuals were systematically gathered, and a comparative analysis was conducted between this series and existing literature.

A snapshot of the immunogenicity, efficacy and safety of a full course of BNT162b2 anti-SARS-CoV-2 vaccine in cancer patients treated with PD-1/PD-L1 inhibitors: a longitudinal cohort study.

Background: Very few cancer patients were enrolled in coronavirus disease-2019 vaccine studies. In order to address this gap of knowledge, real-world studies are mandatory. The aim of this study was to assess both humoral and cellular response after a messenger RNA vaccination schedule.

Association of Intravenous Immunoglobulins Plus Methylprednisolone vs Immunoglobulins Alone With Course of Fever in Multisystem Inflammatory Syndrome in Children.

Importance: Multisystem inflammatory syndrome in children (MIS-C) is the most severe pediatric disease associated with severe acute respiratory syndrome coronavirus 2 infection, potentially life-threatening, but the optimal therapeutic strategy remains unknown.

Objective: To compare intravenous immunoglobulins (IVIG) plus methylprednisolone vs IVIG alone as initial therapy in MIS-C.

Design, Setting, And Participants: Retrospective cohort study drawn from a national surveillance system with propensity score-matched analysis.

L-Arginine infusion after ischaemia-reperfusion of rat kidney enhances lipid peroxidation.

To assess the role of superoxide (O2-) and nitric oxide (NO) in ischaemic-reperfusion-induced acute renal failure, we investigated whether an activation of the L-arginine-NO pathway contributes to ischaemia-reperfusion-induced kidney membrane peroxidation by measurement of 4-hydroxynonenal (HNE) content in anaesthetized rats submitted to acute renal ischaemia. Following ischaemia-reperfusion injury, renal blood flow (RBF) was significantly reduced, while renal vascular resistance was significantly increased. Infusion of neither L-arginine nor D-arginine led to a recovery of RBF.

4-Hydroxynonenal content lower in brains of 25 month old transgenic mice carrying the human CuZn superoxide dismutase gene than in brains of their non-transgenic littermates.

Basic peroxidation in brains of normal 2 month old mice was compared to that in brains of 25 month old mice by measurement of 4-hydroxy-2-nonenal and protein carbonyl contents. No significant age-related differences in 4-hydroxy-2-nonenal were observed, showing that lipid peroxidation is not a determining factor in cerebral aging. However, protein carbonyls increased with age in brains, indicating accumulation of age-related cell constituent damage.

Antioxidant activity of micronized diosmin on oxygen species from stimulated human neutrophils.

Flavonoids are known to reduce reactive oxygen species released by polymorphonuclear neutrophils (PMNs) in vitro. We have studied the effects of S5682 (Daflon 500 mg), a purified flavonoid fraction composed of 90% diosmin and 10% hesperidin. S5682 produced a dose-dependent inhibition of the luminol chemiluminescence (CL) induced by phorbol myristate acetate on PMNs (IC50 = 5 x 10(-5) M), with no effect on superoxide anion (O2.

Increased oxygen species generation in blood monocytes of asthmatic patients.

Besides eosinophils, inflammatory processes in asthma are characterized by an infiltration of inflammatory cells, including mononuclear phagocytes, such as alveolar macrophages (AM) and blood monocytes, in the airways. Monocyte activation has been observed in the blood after exercise or allergen-induced asthma. Stimulated AM in chronic and stable asthmatic patients have been shown to release oxygen species.

Long term treatment with theophylline increases malonyl dialdehyde plasma concentrations.

As theophylline is known to stimulate lipolysis and lipid mobilisation, plasma concentrations of malonyl dialdehyde were studied in asthmatic patients being treated with sustained release theophylline. Malonyl dialdehyde was assessed as malonyl dialdehyde like material (MDA-LM) by the thiobarbituric acid assay. In a kinetic study (eight patients) plasma MDA-LM concentrations were found to be significantly higher after 30 than after eight days' treatment or before treatment, but not significantly different after 90 than after 30 days.

The effect of various acrylonitriles and related compounds on prostaglandin biosynthesis.

We have studied the effect of nearly 90 arylacrylonitrile derivatives, and several related compounds, on the biosynthesis of prostaglandins from bovine seminal vesicle microsomes. This effect was compared to that of triarylacrylonitrile derivatives known for their inhibiting properties. Several arylacrylonitrile derivatives have also proved good inhibitors, especially certain N-trisubstituted compounds: trans (dimethylamino-4 phenyl)-3 (methoxy-4' phenyl)-2 acrylonitrile was the best inhibitor of the group, with an IC50 of 0.

Enzymatic determination of dehydroepiandrosterone sulfate in biological fluids.

A simple method is described for the determination of androgens, particularly dehydroepiandrosterone sulfate (DHEAS), in human plasma and urine. The method does not involve extraction or chromatography. An internal standard is used as reference.

Binding of adducts of NAD(P) and enolizable ketones to NAD(P)-dependent dehydrogenases.

Carbonyl compounds such as alpha-ketoglutarate, pyruvate, oxaloacetate, butyraldehyde, acetaldehyde or acetone react with NAD or NADP to give adducts. Binding studies of adducts to dehydrogenases are performed by means of ultraviolet differential spectroscopy, circular dichroism and spectrofluorimetry. The dehydrogenases show a high degree of binding specificity toward the adducts which contain their specific oxidized substrate and their specific coenzyme.

Prostaglandin biosynthesis by the rat uterus during the oestrus cycle, temporal correlation with plasma oestradiol and progesterone concentrations, identification of 6 keto PGF1 alpha as the major metabolite.

Prostaglandin biosynthesis was studied in the rat uterus during the oestrous cycle. Uterine homogenates were incubated for 20 minutes inthe presence of exogenous substrate (2.10(-5)M).

Squalene epoxidase, oxido-squalene cyclase and cholesterol biosynthesis in normal and tumoral mucosa of the human gastro-intestinal tract. Evidence of post-HHG CoA regulation.

Cholesterol biosynthesis was evaluated in different parts of the human gastro-intestinal tract by incorporation of labelled acetic or mevalonic acid into non-saponifiable metabolites and also by measuring squalene epoxidase activity, oxido=squalene cyclase activity and dihydrolanosterol demethylation rate. With respect to rat liver, whole cholesterol biosynthesis was generally low and we found an anatomic localization of activity towards the end of the gastro-intestinal tract. The results of analysis of mevalonic acid metabolites implied the existence of post-HMG CoA regulation.

Circadian patterns of growth hormone and cortisol secretions in narcoleptic patients.

Narcolepsy, a disorder which is clinically characterized by recurring episodes of sleep during the day, frequently associated with nocturnal disrupted sleep and polygraphically by sleep onset REM periods, has been studied in regard to the relationships between GH, cortisol secretion and sleep. Ten narcoleptics were polygraphically recorded during 24 h after one night's adaptation. Blood samples were taken every 20 min for GH and cortisol immuno-assays.

Plasma acetate levels during hemodialysis.

Before dialysis, acetate levels in hemodialyzed patients (0.27--1.1 mmol/1) were more dispersed than in normal subjects (0.

Prostaglandin synthesis in human placenta and fetal membranes.

The conversion of exogenous arachidonic acid into prostaglandins was studied in human placenta and fetal membrane microsomes. Only one prostaglandin was formed, prostaglandin E2 (PGE2), in fetal membrane microsomes. In placental microsomes PGE2 was further transformed into 15 keto-PGE2.

Squalene epoxidase and oxidosqualene lanosterol-cyclase activities in cholesterogenic and non-cholesterogenic tissues.

Squalene epoxidase and oxidosqualene lanosterol-cyclase activities have been studied in normal mammalian cholesterogenic and non-cholesterogenic tissues. This paper describes the kinetic conditions of measurement of these two enzymatic acitivities and their results. Oxidosqualene lanosterol-cyclase is a widespread enzyme, present in all cholesterogenic and non-cholesterogenic tissues.

[Plasma prolactin levels in normal children from birth to adolescence].

Plasma prolactin levels were determined by an homologous radio-immuno assay in normal children: in cord blood, at the first day of life, during childhood and along puberty. 1. In both sexes, there is a very important secretion of prolactin during the neonatal period.