Prenatal testing for Imprinting Disorders: A clinical perspective

Imprinting Disorders (ImpDis) are a group of congenital conditions caused by aberrant imprinting resulting in disturbed expression of parentally imprinted genes. ImpDis are rarely associated with major malformations, but pre- and/or postnatal growth and nutrition are often affected. In some ImpDis, behavioral, developmental, metabolic and neurological symptoms might present in the perinatal context or later in life, and in single ImpDis, there is a higher risk of tumors in childhood. Prognosis depends in part on the molecular cause of each ImpDis, but due to high clinical variability and (epi)genetic mosaicism, predicting the clinical outcome of a pregnancy solely based on the underlying molecular disturbance is difficult. Therefore, interdisciplinary care and treatment approaches play an important role in the management and decision making of affected pregnancies, especially taking into account fetal imaging in addition to genetic findings. Prenatal findings influence perinatal management, and thereby improve the prognosis of ImpDis associated with severe but sometimes transient clinical complications in the neonatal period. Therefore, prenatal diagnosis can be crucial for appropriate management not only to the pregnancy itself but might also have a life-long effect.     

Berberine-loaded liquid crystalline nanoparticles inhibit non-small cell lung cancer proliferation and migration in vitro

Environmental Science and Pollution Research - Non-small cell lung cancer (NSCLC) is reported to have a high incidence rate and is one of the most prevalent types of cancer contributing towards 85%...     

Autoantibodies and autoimmune disorders in SARS-CoV-2 infection: pathogenicity and immune regulation

Environmental Science and Pollution Research - Coronavirus disease 2019 (COVID-19) is an infectious disease associated with the respiratory system caused by the SARS-CoV-2 virus. The aim of this...     

Effect of substrate properties and phosphorus supply on facilitating the uptake of rare earth elements (REE) in mixed culture cropping systems of Hordeum vulgare,Lupinus albus and Lupinus angustifolius

Environmental Science and Pollution Research - This study presents how phosphate (P) availability and intercropping may influence the migration of rare earth elements (REEs) in legume–grass...     

The OEIS complex: two case reports that illustrate the spectrum of abnormalities and a review of the literature

We present two cases of OEIS (omphalocele, exstrophy, imperforate anus, spinal defects) complex -MIM 258040 and a review of the literature. Case 1 was a 14-year-old girl who presented at 30 weeks' gestation. An ultrasound examination showed an omphalocele and spina bifida; the bladder was not visualised. She went into spontaneous labour two weeks later and the baby died shortly after birth. A full post-mortem examination was refused, but the mother did agree to an external examination, skin biopsy for fibroblast culture, X rays and MR imaging. The MR imaging showed a pelvic kidney, a large omphalocele containing the other kidney, liver, bowel and a fluid filled structure thought to represent an exstrophy of the bladder (EB). Case 2 was a 30-year-old woman who had an ultrasound examination at 20 weeks' gestation; this showed an omphalocele, but the bladder was not visualised. The pregnancy was subsequently terminated and a post-mortem examination showed a low set umbilical cord associated with a small omphalocele; there was an imperforate anus; a blind ending rectum terminated in the omphalocele. We conclude that these two cases illustrate the variability of the OEIS complex. Copyright © 2006 John Wiley & Sons, Ltd.     

Insect biodiversity: underutilized bioresource for sustainable applications in life sciences

Regional Environmental Change - Due to the growing world population and changing eating habits, there is an increasing demand in sustainable alternative protein sources, whereas the available land...     

Food abundance affects energy intake and reproduction in frugivorous female Assamese macaques

In most mammals, female fertility and reproduction are strongly influenced by nutritional status and, therefore, by foraging conditions. Here, we investigate the relationship between food resources, feeding competition, energy intake and reproduction in a group of wild female Assamese macaques (Macaca assamensis) in northeastern Thailand. Over 2,100 h of data on feeding behaviour, energy intake and activity budgets were combined with data on resource characteristics, female reproduction and physical condition. We found that an increase in food availability had a positive effect on female energy intake and conception rates. In addition, it appeared that females incurred energetic costs during lactation and that females with a better physical condition during the mating season were more likely to conceive. The annual birth season occurred a few months before the annual peak in food availability, causing peak lactation to coincide with a period of high food availability. This suggests that females use the increased food abundance to compensate for the energetic costs of lactation. Neither energy intake rates nor activity budgets were influenced by female dominance rank, even during periods when the levels of contest competition were predicted to be high. In line with this, we found no evidence for rank-related differences in reproduction. The apparently limited influence of feeding competition in female Assamese macaques adds to the debate on the extent to which patterns in feeding competition and fitness can reliably be predicted based on ecological conditions. We suggest that this may partially be resolved by including potential competition-reducing mechanisms into the predictive framework.