Diamond-Blackfan anemia (DBA) is a congenital erythroid hypoplasia caused by a functional haploinsufficiency of genes encoding for ribosomal proteins. Recently, a case study reported a patient who became transfusion-independent in response to treatment with the amino acid L-leucine. Therefore, we have validated the therapeutic effect of L-leucine using our recently generated mouse model for RPS19-

Disturbances in glucose metabolism are of importance for violent behaviour in men, but studies in women are lacking. We used the 5h-oral glucose tolerance test (OGTT) in this study of 17 female psychiatric patients, selected for violent behaviour directed against themselves (deliberate self-harm) and 17 healthy controls matched for age and BMI. Following OGTT, patients had higher glucose levels at

Carotenoids are involved in a variety of biological functions, yet the underlying mechanisms are poorly understood, in part because of the long-standing difficulty in assigning the location of the first excited (S-1) state. Here, we present a method for determining the energy of the forbidden S-1 state, on the basis of ultrafast spectroscopy of the short lived level. Femtosecond transient absorpti

The aim of this study was to develop and investigate psychometric properties of the Health Promotion Intervention Questionnaire, a newly developed instrument intended to measure patients' subjective experiences of health promotion interventions in the mental health services. Health promotion practice has often been contested; therefore, it is important to produce convincing evidence that health pr

This paper reviews current issues regarding short-term (i.e. for surgery and invasive procedures) and long-term (i.e. regular infusions to prevent bleeding on a permanent or temporary basis) prophylaxis treatment using replacement concentrates for patients with von Willebrand disease (VWD) who do not respond satisfactorily to desmopressin. The standard treatment of these patients is with factor co

Some products are considered to be 'bad taste' and therefore of less value. However, if we focus on what a product does to and for its users, rather than on what a product is, we can disregard superficial statements based on taste, and instead reach a better understanding of design. This reasoning is based on the relationship between 'good taste' and 'good design', terms which are sometimes confus

Infants with post-tricuspid valve shunts (PTS) may benefit from interatrial communication (IAC). The effect of IAC on left ventricular (LV) performance in these patients was studied. IAC was documented prospectively in 55 patients with PTS. Clinical status, echocardiographic dimensions of LV, mitral inflow Doppler, tissue Doppler velocities and time intervals were measured. Creatinine kinase (CK),

BACKGROUND: A major problem in clinical lung transplantation is the shortage of donor lungs. Only about 20% of donor lungs are accepted for transplantation. A method to evaluate and recondition lungs ex vivo has been tested on donor lungs that have been rejected for transplantation. METHODS: The donor lungs were reconditioned ex vivo in an extracorporeal membrane oxygenation (ECMO) circuit with ST

The degradation of complex substrates, like salivary mucins, requires an arsenal of glycosidases and proteases to sequentially degrade the oligosaccharides and polypeptide backbone. MUC5B is a complex oligomeric glycoprotein, heterogeneous in molecular mass (14-40 x 106 Da), with a diverse repertoire of oligosaccharides, differing in composition and charge. The aim of this study was to investigate

Cyclic and congenital neutropenia are caused by mutations in the human neutrophil elastase (HNE) gene (ELA2), leading to an immunodeficiency characterized by decreased or oscillating levels of neutrophils in the blood. The HNE mutations presumably cause loss of enzyme activity, consequently leading to compromised immune system function. To understand the structural basis for the disease, we implem

BACKGROUND:: In soft tissue sarcoma, better distinction of high-risk and low-risk patients is needed to individualize treatment and improve survival. Prognostic systems used in clinical practice identify high-risk patients based on various factors, including age, tumor size and depth, histological type, necrosis, and grade. METHODS:: Whole-tumor sections from 239 soft tissue sarcomas of the extrem

Disease gene identification is still a challenge despite modern high-throughput methods. Many diseases are very rare or lethal and thus cannot be investigated with traditional methods. Several in silico methods have been developed but they have some limitations. We introduce a new method that combines information about protein-interaction network properties and Gene Ontology terms. Genes with high

Incidence of cancer of unknown primary (CUP) varies globally, and environmental factors are suspected to be related to its development. Immigrant studies offer insights into disease etiology, but no studies have been published on CUP. We investigated CUP risk in immigrants to Sweden to search for etiological clues. The nationwide Swedish Family Cancer Database was used to calculate standardized in

Palatine tonsils are continuously exposed to microorganisms and antigens and secrete antimicrobial peptides as a first line of defense. S100A7 is a protein with antimicrobial and chemotactic properties. Our aim was to investigate how the expression of S100A7 in human palatine tonsils is affected by inflammatory processes. Tonsils obtained from 109 patients undergoing tonsillectomy were divided int

Bifidobacterium breve 46, Bifidobacteriumlactis 8:8 and Bifidobacteriumlongum 6:18 and three reference strains B. breve CCUG 24611, B. lactis JCM 10602, and Bifidobacteriumpseudocatenulatum JCM 1200 were examined for acid and bile tolerance, prebiotic utilization and antimicrobial activity against four Clostridium difficile (CD) strains including the hypervirulent strain, PCR ribotype NAP1/027. B.

Jak tyrosine kinases have a unique domain structure containing a kinase domain (JH1) adjacent to a catalytically inactive pseudokinase domain (JH2). JH2 is crucial for inhibition of basal Jak activity, but the mechanism of this regulation has remained elusive. We show that JH2 negatively regulated Jak2 in bacterial cells, indicating that regulation is an intrinsic property of Jak2. JH2 suppressed

The molecular and electronic surface structure of a triarylamine based hole-conductor (HC) molecule evaporated onto rutile TiO2(110) single crystal is investigated by means of synchrotron light based photoelectron spectroscopy and x-ray absorption spectroscopy in combination with calculations based on density functional theory. Different amounts of the HC molecule was evaporated spanning the monol

Obesity may be associated with increased risk of prostate cancer (PCa). According to one hypothesis, obesity could lower the risk of non-aggressive tumours, while simultaneously increasing the risk of aggressive cancer. Furthermore, central adiposity may be independently associated with PCa risk; it is also associated with diabetes, which itself may influence risk of PCa. We studied the associatio