Menkes disease is an X-linked recessive disorder characterized by neurological deterioration, failure to thrive, peculiar hair and death in childhood, secondary to mutations in the ATP7A gene. The ATP7A gene encodes for a copper transporting P-type ATPase (ATP7A), which is ubiquitously expressed. A defect of the ATP7A protein leads to both a reduced transport of copper from the intestine into the

Background: Osteoporosis affects approximately one in five European women and leads to fragility fractures, which result in poor health, social and economic consequences. Fragility fractures are a strong risk factor for subsequent major osteoporotic fracture (MOF), with risk of MOF being elevated in the 1–2 years following an earlier fracture, a concept described as “imminent risk”. This study exa

3-phosphoglycerate dehydrogenase (PHGDH) deficiency is a disorder of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures. To investigate the molecular basis for this disorder, the PHGDH mRNA sequence was characterized, and six patients from four families were analyzed for sequence variations. Five patients from three different families were

Interleukin-15 (IL-15) is a cytokine that has been shown to expand CD8 T cell and natural killer (NK) cell populations, and therefore has potential for potentiating adoptive immune cell therapy for cancer. Previously, IL-15 has been shown to induce proliferation of CD8 memory T cells through activation of telomerase. Here, we investigated whether telomerase is also activated during the IL-15 media

The SRY (sex determining region Y)-box 11 (SOX11) gene, located on chromosome 2p25, encodes for a transcription factor that is involved in tissue remodeling during embryogenesis and is crucial for neurogenesis. The role for SOX11 in hematopoiesis has not yet been defined. Two genes under direct control of SOX11 are the class- III β-tubulin gene (TUBB3) in neural cells and the transcription factor

The natural products pulchrol and pulchral, isolated from the roots of the Mexican plant Bourreria pulchra, have previously been shown to possess an antiparasitic activity toward Trypanosoma cruzi, Leishmania braziliensis and L. amazonensis, protozoa responsible for the Chagas disease and leishmaniasis. These infections have been classified as neglected diseases, and still require the development

The timing and yield of metabolic studies for patients with neurodevelopmental disorders is a matter of continuing debate. We determined the yield of additional or repeated metabolic studies in patients with neurodevelopmental disorders. Patients referred to a tertiary diagnostic center for patients with unexplained neurodevelopmental disorders were included. Initial metabolic studies had been per

Mergers of neutron stars (NS) and white dwarfs (WD) may give rise to observable explosive transientevents. We use 3D hydrodynamical (SPH) simulations, as well as 2D hydrodynamical-thermonuclearsimulations (using the FLASH AMR code) to model the disruption of CO-WDs by NSs, whichproduce faint transient events. We post-process the simulations using a large nuclear network andmake use of the SuperNu

Preoperative imatinib is used frequently in the treatment of large localized GISTs to shrink the tumor prior to surgery. This approach may lead to challenges in the estimation of the risk of recurrence and the need of adjuvant imatinib, because the diagnosis is usually made from a needle biopsy with scant tissue for the assessment of GIST mitotic activity, a key prognostic factor. We propose a mit

Sverige framhålls ofta som ett föregångsland gällande personlig assistans (PA) och mänskliga rättigheter. Forskning visar dock att bedömningen av rätten till PA styrs av en medicinsk förståelse av funktionshinder och av ekonomiska snarare än funktionshinderpolitiska mål. Nedskärningar har medfört att antalet med statlig assistansersättning har minskat. Syftet med artikeln är att belysa de motstridSweden is often highlighted as a pioneering country in terms of personal assistance (PA) and human rights. However, research shows that the assessment of PA is guided by a medical understanding of disability and by austerity ratherthan by disability policy. Furthermore, the number of people with state-funded PA has decreased. The purpose of the article is to illuminate the contradictions that char

Promoting or upscaling governance and business innovations requires an understanding about the conditions and contexts that support a particular innovation. Indeed, context can importantly condition the emergence of new ideas as well as their stabilization and system-level uptake. Ecosystems and the services they provide can be considered this kind of context for innovations because they vary acro

INTRODUCTION: Falls in older aged adults are an important public health problem. Insight into differences in fall-related injury rates between countries can serve as important input for identifying and evaluating prevention strategies. The objectives of this study were to compare Global Burden of Disease (GBD) 2017 estimates on incidence, mortality and disability-adjusted life years (DALYs) due to

Aims: The aim of the present study was to compare outcomes of endovascular surgery versus open vascular surgery in patients with diabetic foot ulcer (DFU) and peripheral arterial disease (PAD). Methods: Between 1984 and 2006, 1151 patients with DFU were admitted to the diabetic foot care team. Three hundred seventy-six patients with 408 limbs were consecutively included at a multidisciplinary foot