A rare lethal autosomal recessive syndrome with skeletal dysplasia, polycystic kidneys and multiple malformations was first described by Gillessen-Kaesbach et al and subsequently by Nishimura et al. The skeletal features uniformly comprise a round pelvis, mesomelic shortening of the upper limbs and defective ossification of the cervical spine. We studied two unrelated families including three affe

Airway hyperresponsiveness (AHR) to inhaled mannitol is associated with indirect markers of mast cell activation and eosinophilic airway inflammation. It is unknown how AHR to mannitol relates to mast cell phenotype, mast cell function and measures of eosinophilic inflammation in airway tissue. We compared the number and phenotype of mast cells, mRNA expression of mast cell associated genes and nu

Background/Aims: Motor impairment is an important aspect of cognitive decline in older adults. It has been suggested that complex motor control is affected earlier than gross motor control. The aims were to investigate if complex hand motor function was more affected than gross motor function in cognitively impaired older subjects, and to present reference values. Methods: Alternating forearm move

BACKGROUND: Several surveys show that patients with chronic heart failure (CHF) are sub-optimally managed and treatment guidelines are not implemented in clinical practice. AIMS: To investigate awareness and perceptions of the 2005 European Society of Cardiology (ESC) guidelines for CHF. METHODS: 467 cardiologists from seven European countries completed an on-line interview using a validated, semi

Ursolic acid (UA) has antiinflammatory and anticancer effects on mammalian cells. Increase in acid sphingomyelinase (SMase) is associated with several inflammatory diseases including inflammatory bowel diseases. The enzyme has become a target for drug discovery. The present study examined the roles of UA on acid SMase in intestinal cells. We found that UA specifically inhibited acid SMase activity

OBJECTIVES:: The aim of this study is to explore the long-term quality of life (QoL) in adults after surgery for Hirschsprung disease in childhood. PATIENTS AND METHODS:: Altogether 51 patients were operated for HD at our center during the period 1969 to 1989. In 2007, the validated instruments for assessing QoL, the SF-36 health survey and the Gastrointestinal Quality of Life Index (GIQLI), were

Beijing has been experiencing severe particulate pollution accompanying the fast growing population and economy. This study investigated the impact of PM2.5 and its water soluble organic and inorganic constituents on visual impairment in Beijing under different meteorological conditions. According to the analysis of PM2.5 samples collected in Spring 2012, water soluble species took up 38.1% of PM2

Desmoplastic fibroblastoma (DF) is a benign fibroblastic/myofibroblastic tumor. Cytogenetic analyses have revealed consistent rearrangement of chromosome band 11q12, strongly suggesting that this region harbors a gene of pathogenetic importance. To identify the target gene of the 11q12 rearrangements, we analyzed six cases diagnosed as DF using chromosome banding, fluorescence in situ hybridizatio

OBJECTIVE: Topical negative pressure, commonly used in wound therapy, has been shown to increase blood flow and stimulate angiogenesis in subcutaneous tissue and skeletal muscle. In wound therapy, intermittent negative pressure is often preferred to continuous negative pressure as tissue exposed to intermittent therapy shows twice as much granulation tissue formation than that exposed to continuou

Stem cells and their derivatives show tremendous potential for treating many disorders, including neurodegenerative diseases. We discuss here the challenges and potential for the translation of stem-cell-based approaches into treatments for Parkinson's disease, Huntington's disease, and amyotrophic lateral sclerosis.

AIMS/HYPOTHESIS: The enzyme hormone-sensitive lipase (HSL) is produced and is active in pancreatic beta cells. Because lipids are known to play a crucial role in normal control of insulin release and in the deterioration of beta cell function, as observed in type 2 diabetes, actions of HSL in beta cells may be critical. This notion has been addressed in different lines of HSL knockout mice with co

Aging causes profound effects on the hematopoietic stem cell (HSC) pool, including an altered output of mature progeny and enhanced self-propagation of repopulating-defective HSCs. An important outstanding question is whether HSCs can be protected from aging. The signal adaptor protein LNK negatively regulates hematopoiesis at several cellular stages. It has remained unclear how the enhanced sensi

We show that the blockage in transmission of a screen with a periodic microstructure integrated over all wavelengths is bounded by the static polarizability per unit area of the screen. Physical bounds on the co-polarized transmission coefficient over a wavelength interval are presented using only information from the zero-frequency properties of the microstructure. The theoretical results are com

The biochemical mechanisms underlying glucose-stimulated insulin secretion from pancreatic beta-cells are not completely understood. To identify metabolic disturbances in beta-cells that impair glucose-stimulated insulin secretion, we compared two INS-1-derived clonal beta-cell lines, which are glucose-responsive (832/13) or glucose-unresponsive (832/2). We found that despite a marked impairment o

Two decades have passed since the first attempts were made to establish systematic ethical review of human research in the Baltic States. Legally and institutionally much has changed. In this paper we provide an historical and structural overview of ethical review of human research and identify some problems related to the role of ethical review in establishing quality research environment in thes

Cancer patients diagnosed with type 2 diabetes mellitus (T2DM) are at an increased risk of death due to cancer. However, whether T2DM comorbidity increases other causes of death in cancer patients is the novel theme of this study. Patients with T2DM were identified from the nationwide Swedish Hospital Discharge Register and linked with patients with cancer recorded from the Swedish Cancer Registry

The arrival of large numbers of economic migrants and refugees has seen the Swedish immigrant population increase rapidly. Research has shown that immigrants may be more susceptible to mental disorders because of traumatic events prior to immigration and adverse circumstances in their new country. The aim of this literature review is to summarize and interpret recent research on the mental health