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APECED-causing mutations in AIRE reveal the functional domains of the protein.

A defective form of the AIRE protein causes autoimmune destruction of target organs by disturbing the immunological tolerance of patients with a rare monogenic disease, autoimmune polyendocrinopathy (APE)-candidiasis (C)-ectodermal dystrophy (ED), APECED. Recently, experiments on knockout mice revealed that AIRE controls autoimmunity by regulating the transcription of peripheral tissue-restricted

Plasma Homocysteine and Cognition in Elderly Patients with Dementia or Other Psychogeriatric Diseases.

Background: Total plasma homocysteine (tHcy) concentration is elevated in elderly patients with mental illness, and patients with vascular disease have higher plasma tHcy concentrations than patients without vascular disease. Increasing evidence indicates that vascular risk factors play a role in the development of cognitive impairment. Method: We have investigated the relation between plasma tHcy

Lacunar infarcts: no black holes in the brain are benign.

Lacunar infarcts--small subcortical infarcts that result from occlusion of a single penetrating artery--account for about one quarter of all ischaemic strokes. However, there are many diagnostic pitfalls, and causes other than penetrating small vessel disease in up to one third of cases. Recent studies have shown that the prognosis after lacunar infarcts is not benign; the risk of recurrent stroke

Estimated Future Salinity in the Arabian Gulf, the Mediterranean Sea and the Red Sea Consequences of Brine Discharge from Desalination

Seawater desalination constitutes an important source for water supply to the population bordering the Arabian Gulf, the Mediterranean Sea, and the Red Sea. The three regions represent about 11.8% of the world land area and the countries hosted approximately 9% of the world population in 1950 and 2008 and are projected to do so again in 2050. Population statistics for a 100-year period has been us

Severe difficulties with word recognition in noise after platinum chemotherapy in childhood, and improvements with open-fitting hearing-aids.

To investigate word recognition in noise in subjects treated in childhood with chemotherapy, study benefits of open-fitting hearing-aids for word recognition, and investigate whether self-reported hearing-handicap corresponded to subjects' word recognition ability. Design: Subjects diagnosed with cancer and treated with platinum-based chemotherapy in childhood underwent audiometric evaluations. St

Waveform Pattern Recognition – A New Semiquantitative Method for Analysis of Fetal Aortic and Umbilical Artery Blood Flow Velocity Recorded by Doppler Ultrasound

A semiquantitative computerized waveform pattern recognition system for analysis of the fetal descending aortic and umbilical artery Doppler flow velocity waveforms is presented. Based on empirically and manually selected clinical recordings from both vessels, 11 computerized and normalized standard curves for the aorta (type curves A to K), and 10 curves for the umbilical artery (type curves a to

Type 2 diabetes candidate gene CAPN10: first, but not last.

CAPN10, which encodes the cysteine protease calpain 10, was the first type 2 diabetes mellitus (T2DM) susceptibility gene identified through a genome-wide scan followed by positional cloning. A haplotype combination comprising three intronic CAPN10 single-nucleotide polymorphisms (UCSNP-43, -19, and -63) was associated with increased risk of T2DM in the population in which linkage was first found.

Cannabinoid 1 receptor in fatty liver

The role of cannabinoids in fatty liver disease has been increasingly acknowledged in recent years, and it has been suggested that drugs targeting peripheral cannabinoid receptors could have therapeutic use. Development of such drugs would require a good understanding of the mechanisms of fat accumulation caused by cannabinoid receptor activation. This review describes in detail the enzymatic step

Bioaccumulation and differential partitioning of polychlorinated biphenyls in freshwater, planktonic food webs

The planktonic food chain phytoplankton - zooplankton - young-of-the-year roach (Rutilus rutilus) was studied in 19 lakes in southern Sweden to investigate the bioaccumulation of polychlorinated biphenyls (PCBs). The Sigma PCB concentrations did not steadily increase with increasing trophic level. The Sigma PCB concentrations in zooplankton (400 ng.g lipid(-1)) were lower than in both phytoplankto

Virulence factors in isolates of Enterococcus faecalis from infective endocarditis and from the normal flora.

Infective endocarditis (IE) is a severe infection associated with significant morbidity and mortality. Enterococcus faecalis is among the most common causes of this disease, and yet little is known about the pathogenesis of E. faecalis IE. We screened 21 E. faecalis isolates from IE and 21 isolates from normal flora for the putative virulence factors ace, asa1, gelE, and esp with PCR. In addition,

Synucleinopathies from bench to bedside.

Accumulation of alpha-synuclein is a pathological feature in several neurological diseases. Its characterization has allowed for a re-grouping of diseases according to the expected pathology. The clinical syndrome of PD can now be classified into forms with and without alpha-synuclein pathology. DLB and PDD are synucleinopathies, and MSA shows alpha-synuclein pathology with glial inclusions. ADHD

Short-term Outcomes for Open and Laparoscopic Midline Incisional Hernia Repair: A Randomized Multicenter Controlled Trial: The ProLOVE (Prospective Randomized Trial on Open Versus Laparoscopic Operation of Ventral Eventrations) Trial.

OBJECTIVE:: The aim of the trial was to compare laparoscopic technique with open technique regarding short-term pain, quality of life (QoL), recovery, and complications. BACKGROUND:: Laparoscopic and open techniques for incisional hernia repair are recognized treatment options with pros and cons. METHODS:: Patients from 7 centers with a midline incisional hernia of a maximum width of 10 cm were ra

Hand synergies: Integration of robotics and neuroscience for understanding the control of biological and artificial hands.

The term 'synergy' - from the Greek synergia - means 'working together'. The concept of multiple elements working together towards a common goal has been extensively used in neuroscience to develop theoretical frameworks, experimental approaches, and analytical techniques to understand neural control of movement, and for applications for neuro-rehabilitation. In the past decade, roboticists have s

Physical activity in a total population of children and adolescents with cerebral palsy.

The aims of this study were to describe the participation in physical activity of children with cerebral palsy (CP) at school and during leisure time and to identify characteristics associated with physical activity. The frequency of receiving physiotherapeutic interventions were described as a variable of interest. A total population of 364 children with verified CP aged 7-17 years living in the

The p53 target gene TRIM22 directly or indirectly interacts with the translation initiation factor eIF4E and inhibits the binding of eIF4E to eIF4G.

BACKGROUND INFORMATION: The interferon-inducible protein TRIM22 (Staf50) is a member of the TRIM protein family and has been suggested a role in the regulation of viral replication as well as of protein ubiquitylation. Additionally, we have previously shown that TRIM22 is a direct target gene for the tumour suppressor p53. Consistently, overexpression of TRIM22 inhibits the clonogenic growth of mo