The rare but clinically important null phenotypes of the P1PK and GLOB blood group systems are due to alterations in A4GALT and B3GALNT1, respectively. A recently identified single-nucleotide polymorphism in Exon 2a of A4GALT predicts the common P1 and P2 phenotypes but rare variants have not been tested.

Elevated low-density lipoprotein cholesterol (LDL-C) is a treatable, heritable risk factor for cardiovascular disease. Genome-wide association studies (GWASs) have identified 157 variants associated with lipid levels but are not well suited to assess the impact of rare and low-frequency variants. To determine whether rare or low-frequency coding variants are associated with LDL-C, we exome sequenc

Variation of mechanical properties in materials can be detected non-destructively using ultrasonic measurements. In particular, changes in elastic wave velocity can occur due to damage, i.e., micro-cracking and particles debonding. Here the challenge of characterizing damage in geomaterials, i.e., rocks and soils, is addressed. Geomaterials are naturally heterogeneous media in which the deformatio

Islands allure imagination, thought and affect. Imagination, thought and affect conjure islands. Literary imaginations create islands more than any other geographical form. Metaphorically, we use concepts of bounded and contained islands to think with, to an extent not commonly recognized. Emotions and desires are moved by and commonly move us towards or away from islands. Relatedly, in a deeper t

The recent and fossil pollen data obtained under the frame of the multi-disciplinary international El'gygytgyn Drilling Project represent a unique archive, which allows the testing of a range of pollen-based reconstruction approaches and the deciphering of changes in the regional vegetation and climate. In the current study we provide details of the biome reconstruction method applied to the late

This paper presents the design of a two-step process in which the first step is PEGylation of a protein, and the second step is chromatographic purification of the target mono-PEGylated protein from the unreacted and the di-PEGylated impurities. The difference between optimizing each process step separately and optimizing them simultaneously is studied. It was found that by optimizing the steps si

The use of an alexandrite laser for laser-induced fluorescence (LIF) spectroscopy and imaging of molecular oxygen in thermally excited vibrational states is demonstrated. The laser radiation after the third harmonic generation was used to excite the B-X (0-7) band at 257 nm in the Schumann-Runge system of oxygen. LIF emission was detected between 270 and 380 nm, revealing distinct bands of the tra

Survival after in-hospital pulseless electrical activity (PEA) cardiac arrest is poor and has not changed during the last 10 years. Effective chest compressions may improve survival after PEA. We investigated whether a mechanical device (LUCAS (TM)-CPR) can ensure chest compressions during cardiac arrest according to guidelines and without interruption during transport, diagnostic procedures and i

Objectives: The aim of this study was to evaluate the cost-utility of Docetaxel with doxorubicin and cyclophosphamide (TAC) and 5-fluorouracil, doxorubicin, cyclophosphamide (FAC) in node-positive breast cancer patients in the south of Iran. Methods: A double blind study was done on a cohort of 100 patients suffering from breast cancer with node-positive over 8 months in the radiotherapy center of

beta-Amyloid (A beta) accumulation and aggregation are hallmarks of Alzheimer's disease (AD). High-resolution three-dimensional (HR-3D) volumetric imaging allows for better analysis of fluorescence confocal microscopy and 3D visualization of All pathology in brain. Early intraneuronal A beta pathology was studied in AD transgenic mouse brains by HR-3D volumetric imaging. To better visualize and an

AimsMyoepithelial tumours of soft tissue are rare lesions with a broad morphological and clinical spectrum. Previous studies have found EWSR1 rearrangements in approximately half of all cases and PBX1, ZNF44 and POU5F1 have been identified as recurrent fusion partners. In bone, only a small number of myoepithelial tumours have been described. We investigated an intraosseous myoepithelioma of the s

Wing interference patterns (WIPs) are shown to be an important tool for species recognition in the genus Achrysocharoides Girault (Hymenoptera: Eulophidae). This is demonstrated by combining information from two previously published papers, comprising two cases of cryptic species, and by new material including the description of two new species, A. maieri and A. serotinae from North America. The c

Background/Aim: Low-molecular-weight heparin (LMWH) has been shown to prolong survival among patients with solid tumors, but its role among myeloma patients is unknown. Patients: Data from the GIMEMA (Gruppo Italiano Malattie Ematologiche dell'Adulto), Nordic and Turkish myeloma study groups comparing melphalan and prednisolone with (MPT, n: 404) or without thalidomide (MP, n: 393) are analyzed fo

A compression cell designed to fit inside an NMR spectrometer was used to investigate the in situ mechanical strain response, structural changes to the internal pore structure, and the diffusion and flow of interstitial water in full-thickness cartilage samples as it was deforming dynamically under a constant compressive load (pressure). We distinguish between the hydrostatic pressure acting on th

G-protein coupled receptors (GPCRs) are involved in the regulation of adipose tissue function, but the total number of GPCRs expressed by human subcutaneous adipose tissue, as well as their function and interactions with drugs, is poorly understood. We have constructed an atlas of all GPCRs expressed by human subcutaneous adipose tissue: the 'adipose tissue GPCRome', to support the exploration of

In this paper, enthalpy-entropy compensation (EEC) during the association of two molecules is studied by minimising model systems with molecular mechanics (MM) or quantum mechanics (QM), calculating translational, rotational, and vibrational contributions to the enthalpy and entropy with standard statistical-mechanics methods, using the rigid-rotor harmonic-oscillator approach. We start with simpl

Vibration thresholds in index and little finger pulps in subjects with autoantibody [GADA, IA-2A and/or ICA] positive and negative diabetes 20 years after diagnosis were higher than in age-matched controls at low frequencies (8 and 16Hz), irrespective of HbA1c values, indicating selective impairment of Meissner's corpuscles and/or their innervating axons.

Within innate immune signaling pathways, Interleukin-1 receptor (IL-1R&)-associated kinases (IRAKs) fulfill key roles downstream of multiple Toll-like receptors (TLR) and the IL-1R. Whereas human IRAK4-deficiency was shown to lead to severe immunodeficiency in response to pyogenic bacterial infection during childhood, little is known about the role of human IRAK2. We here identified a non-syno

Background: Increasing survival rates for pediatric brain tumor patients creates a greater need for neuropsychologic follow-up and intervention. The aim of this study was to evaluate rates of referral by medical doctors to neuropsychologic services and patient and treatment factors that differentiated referred and non-referred patients. Methods: Data were retrieved from medical records of all pedi