Pearson syndrome (PS) is a multisystem disease including refractory anemia, vacuolization of marrow precursors and pancreatic fibrosis. The disease starts during infancy and affects various tissues and organs, and most affected children die before the age of 3years. Pearson syndrome is caused by de novo large-scale deletions or, more rarely, duplications in the mitochondrial genome. In the present

Mitochondrial DNA defects were known to be associated with a wide spectrum of human diseases and patients might present a wide range of clinical features in various combinations. In the current study, we described a patient with psychomotor and neurodevelopmental delay, mild hyperintensity of posterior periventicular white matter, generalized clonic seizures, leukodystrophy, and congenital deafnes

Background: TCF7L2 is a central transcription factor in the canonical wingless-type MMTV integration site (WNT) signaling pathway, and genetic variants in TCF7L2 have been found to interact with dietary fiber intake on type 2 diabetes risk. Here, we investigate whether other type 2 diabetes genes could be involved in the WNT signaling pathway and whether variants in such genes might interact with

Silicon photomultipliers (SiPMs) are an enabling solid-state technology for low light sensing, with single photon sensitivity and photon number resolving capability. They feature an extremely high internal gain at the 106 level, comparable to photomultiplier tubes (PMTs), with the advantage of low operating voltage (~50 V compared to ~1000 V for PMT) and low energy consumption. The solid-state tec

One mechanism of resistance of prostate cancer (PCa) to enzalutamide (MDV3100) treatment is the increased expression of AR variants lacking the ligand binding-domain, the best characterized of which is AR-V7. We have previously reported that Phosphatidylinositol-4-phosphate 5-kinase alpha (PIP5Kα), is a lipid kinase that links to CDK1 and AR pathways. The discovery of PIP5Kα inhibitor highlight th

This paper provides an analysis of 67 corrody contracts from 1476-1538. By purchasing such a contract, the elderly acquired lifelong lodging and care in an institution - in this case the hospital of Sint-Pieter in Amsterdam. Most customers paid in kind, by handing over real estate and financial instruments to the hospital, or promising to do manual labour. Customers spent the equivalent of 250-400

Mortgage markets in developing economies, both past and present, are often confined to social networks between private individuals. The inadequate registration of ownership of and encumbrances on borrowers' real estate has been offered as a reason for this, but it is questionable whether such registration provides either a simple or a complete explanation. This paper analyses mortgage markets betw

Butterfly monitoring schemes are recording programs initiated to monitor nationwide butterfly abundance and distribution patterns, often with help from volunteers. The method generates high-resolution data, but may be associated with a degree of habitat sampling bias if volunteers prefer to survey areas perceived to be high-quality butterfly habitats. This can result in habitats becoming underrepr

The phylogenetic relationships among hemosporidian parasites, including the origin of Plasmodium falciparum, the most virulent malaria parasite of humans, have been heavily debated for decades. Studies based on multiple-gene sequences have helped settle many of these controversial phylogenetic issues. However, denser taxon sampling and genome-wide analyses are needed to confidently resolve the evo

It is unknown whether patients as a consequence of prosthetic joint replacement are at a higher risk of developing cancer. We therefore analyzed cancer incidence following prosthetic knee replacement (TKR). The observed cancer incidence in 14,551 patients from the population-based Swedish Knee Arthroplasty Register who have undergone TKR because of osteoarthrosis (OA, n = 10,120) or rheumatoid art

In a case-control study of 280 out of 426 consecutive patients with a recent diagnosis of non-Hodgkin lymphoma (NHL) and 1827 control subjects, 53 (19%) and 230 (13%) respectively had received blood transfusions 1 year or more before the interview. Using an age- and sex-stratified analysis the odds ratio (OR) for transfusion was 1.74 (95% CI 1.24-2.44). ORs were also determined for transfusions re

Angiogenesis provides growing tumors a source of nutrients and oxygen, and a route for metastatic dissemination. In recent years anti-angiogenic therapies that primarily target the vascular endothelial growth factor (VEGF) signaling cascade have entered the clinic. However in practice, these have encountered unexpected mechanisms of resistance in many solid tumors, highlighting the need for furthe

Axonal damage, a core feature of neurological diseases, induces a retrograde reaction in neurons and surrounding glia. We determined transcriptional profiles of this reaction using Affymetrix oligonucleotide arrays. Gene expression was examined in spinal cord tissue prior to injury and following ventral root avulsion in two inbred rat strains, where the degree of neurodegeneration differs. Stringe