MECP2 duplication syndrome in a patient from Cameroon

MECP2 duplication syndrome (MDS; OMIM 300260) is an X‐linked neurodevelopmental disorder caused by nonrecurrent duplications of the Xq28 region involving the gene methyl‐CpG‐binding protein 2 (MECP2; OMIM 300005). The core phenotype of affected individuals includes infantile hypotonia, severe intellectual disability, very poor‐to‐absent speech, progressive spasticity, seizures, and recurrent infections. The condition is 100% penetrant in males, with observed variability in phenotypic expression within and between families. Features of MDS in individuals of African descent are not well known. Here, we describe a male patient from Cameroon, with MDS caused by an inherited 610 kb microduplication of Xq28 encompassing the genes MECP2, IRAK1, L1CAM, and SLC6A8. This report supplements the public data on MDS and contributes by highlighting the phenotype of this condition in affected individuals of African descent.     

Effect of cumulus cell mass and follicle quality on in-vitro maturation of cynomolgus monkey oocytes

Cynomolgus monkey oocytes were recovered from healthy or atreticfollicles > 1000 µm in diameter at day 8 of gonadotrophinstimulated cycles and cultured in vitro, cumulus enclosed orcumulus free, for 2 days. Germinal vesicle breakdown (GVBD)occurred in 26.7% of healthy cumulus enclosed oocytes (n= 60)compared to 52.6% of atretic cumulus enclosed oocytes (n = 38).The mechanical removal of the cumulus cell mass increased theGVBD rate of the healthy oocytes (56.5%, n = 23) and acceleratedthe passage of the atretic oocytes (n = 23) from metaphase I(4.3%) to metaphase II (47.8%). In the healthy primate follicle,the dktyate stage could be maintained by aninhibitory substancesecreted by the cumulus; foUicular atresia could either decreasethe synthesis of this substance and/or induce the metabolismof a stimulatory substance.     

Dynamic force spectroscopy of parallel individual Mucin1-antibody bonds

We used atomic force microscopy to measure the binding forces between Mucin1 (MUC1) peptide and a single-chain variable fragment (scFv) antibody selected from a scFv library screened against MUC1. This binding interaction is central to the design of molecules used for targeted delivery of radioimmunotherapeutic agents for prostate and breast cancer treatment. Our experiments separated the specific binding interaction from nonspecific interactions by tethering the antibody and MUC1 molecules to the atomic force microscope tip and sample surface with flexible polymer spacers. Rupture force magnitude and elastic characteristics of the spacers allowed identification of the rupture events corresponding to different numbers of interacting proteins. We used dynamic force spectroscopy to estimate the intermolecular potential widths and equivalent thermodynamic off rates for monovalent, bivalent, and trivalent interactions. Measured interaction potential parameters agree with the results of molecular docking simulation. Our results demonstrate that an increase of the interaction valency leads to a precipitous decline in the dissociation rate. Binding forces measured for monovalent and multivalent interactions match the predictions of a Markovian model for the strength of multiple uncorrelated bonds in a parallel configuration. Our approach is promising for comparison of the specific effects of molecular modifications as well as for determination of the best configuration of antibody-based multivalent targeting agents.     

Peser les patients habillés induit un risque de surestimation de leur statut nutritionnel

In institutions and at home, some patients may have difficulty mobilizing and undressing, or refusing to put on their underwear. It is therefore likely that weighing dressed patients is a common practice. The overestimation of the body weight thus obtained could lead to an error in the evaluation of the nutritional status. The aim of the study was to determine the extent to which adult patients dressed versus underwear could alter their nutritional status. Fifty-one patients were included. Dressed weighing overestimated the actual weight of 1.6 ± 0.6 kg and induced an overestimation of nutritional status classification in almost 14% of cases. In addition, the weight of the clothes was different according to the sex and the conditions of outside temperature. These results suggest that it is desirable as much as possible to weigh all adult patients in underwear.