Describing the Prevalence of Neural Tube Defects Worldwide: A Systematic Literature Review

BackgroundFolate-sensitive neural tube defects (NTDs) are an important, preventable cause of morbidity and mortality worldwide. There is a need to describe the current global burden of NTDs and identify gaps in available NTD data.ConclusionsMany WHO member states (120/194) did not have any data on NTD prevalence. Where data are collected, prevalence estimates vary widely. These findings highlight the need for greater NTD surveillance efforts, especially in lower-income countries. NTDs are an important public health problem that can be prevented with folic acid supplementation and fortification of staple foods.     

Mobile Unit for Screening for Cervical and Breast Cancer

In 12 months'' use of a mobile unit for cervical and breast cancer screening in Gloucestershire 3,211 women attended at an average of five sessions a week. Clinic sessions were organized and the running costs of the service met by a voluntary organization. The keeping of records, provision of laboratory facilities, and the follow-up of patients were carried out in close cooperation with the county health department.     

Contribution to the linkage theory of autopolyploids: II

In the first part of this paper, hereinafter referred to as I, a general segregation, distribution was introduced for autopolyploids (2s-ploids) withm, loci, andr alleles. Random mating, chromosome segragation, distinct generations, and equal segregation distributions for males and females were assumed. In this second part, using this segregation distribution as a basis, a recurrence formula is established which enables us to compute the distribution of gametes for any generation, if this distribution is known for an initial generation. This initial distribution of gametes is derived from the initial distribution of genotypes. The limit behavior of these distributions is completely described in a general limit theorem which contains as particular cases the limit theorems for diploids withm loci, and for 2s-ploids with one locus (Geiringer, 1944, 1945, 1948).     

Contribution to the linkage theory of autopolyploids: I

A theory of linkage of autopolyploids is developed under consideration ofm loci andr alleles. The simplifying assumption of chromosome segregation, which may be considered as an approximation to the more adequate theory of chromatid segregation, is made throughout. Random mating and distinct, non-overlapping generations are assumed. Under these assumptions the problem is determined by three basic probability distributions—the distributions of genotypes and of gametes, and the segregation distribution. The segregation distribution is assumed to be the same for males and for females. The aim of the paper is to establish recurrence formulas (which allow to find the distributions of gametes and of genotypes from generation to generation, if the distribution of genotypes for an initial generation is known) and to investigate the limit behavior of these distributions as the number of generations increases indefinitely. In the present paper (hereafter referred to as I) the problem is explained, and the three characteristic distributions are introduced for the general case of a 2s-ploid,m loci, andr alleles. Recurrence relations are established for tetraploids,s=2 andm=2 loci, while the recurrence relations for the general case as well as the limit theorems will be given in the second part of this paper (hereafter referred to as II).     

Interaction of Trastuzumab with biomembrane models at air-water interfaces mimicking cancer cell surfaces

Trastuzumab (Tmab) is a monoclonal antibody administered as targeted therapy for HER2-positive breast cancer whose molecular interactions at the HER2 receptor microenvironment are not completely clarified yet. This paper describes the influence of Tmab in the molecular organization of films of biological-relevant molecules at the air water interface. For that, we spread components of tumorigenic and non-tumorigenic cells directly on the air-water interface. The physicochemical properties of the films were investigated with surface pressure-area isotherms and Brewster angle microscopy, and distinction between the cellular lines with higher or lower amount of HER2 could be detected based on the physicochemical properties of the interfacial films. The systems organized at the air-water interface were transferred to solid supports as Langmuir-Blodgett films and the nano-scale morphology investigated with atomic force microscopy. The overall results related to Tmab interacting with the films lead to the conclusion that Tmab tends to condense rich-HER2 films, causing irregular dimerization of the receptor protein, changing the membrane topography of the films, with formation of phases with different levels of reflectivity and aggregation morphology, and finally revealing that the interaction of the antibody with proteo-lipidic biointerfaces is modulated by the film composition. We believe that novel perspectives concerning the molecular interactions in the plasma membrane microenvironment through Langmuir monolayers can be obtained from this work in order to enhance the Tmab-based cancer therapy.     

Variant repeats are interspersed throughout the telomeres and recruit nuclear receptors in ALT cells

Telomeres in cells that use the recombination-mediated alternative lengthening of telomeres (ALT) pathway elicit a DNA damage response that is partly independent of telomere length. We therefore investigated whether ALT telomeres contain structural abnormalities that contribute to ALT activity. Here we used next generation sequencing to analyze the DNA content of ALT telomeres. We discovered that variant repeats were interspersed throughout the telomeres of ALT cells. We found that the C-type (TCAGGG) variant repeat predominated and created a high-affinity binding site for the nuclear receptors COUP-TF2 and TR4. Nuclear receptors were directly recruited to telomeres and ALT-associated characteristics were induced after incorporation of the C-type variant repeat by a mutant telomerase. We propose that the presence of variant repeats throughout ALT telomeres results from recombination-mediated telomere replication and spreading of variant repeats from the proximal regions of the telomeres and that the consequent binding of nuclear receptors alters the architecture of telomeres to facilitate further recombination.