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

The risk for celiac disease (CD) is clearly related to specific HLA DQA1 and DQB1 alleles, but HLA -typing is often considered too costly for frequent use.Here we present a method using sequence-specific primed PCR (PCR-SSP) for HLA-DR-DQ genotyping optimized for capillary electrophoresis on Applied Biosystems 3130xl Genetic Analyzer. Requiring a total of three PCR reactions and a single electroph

Background: Recent studies show that FVIIa binds to endothelial cell protein C receptor (EPCR) on vascular endothelium; however, the importance of this interaction in hemostasis or pathophysiology is unknown. Objective, The aim of the present study is to investigate the role of FVIIa interaction with EPCR on the endothelium in mediating FVIIa transport from the circulation to extravascular tissues

Abstract Body composition measurements are used to evaluate surgical treatment, such as bariatric surgery in over weight patients. Nowadays, there are many different methods to measure body composition available. However, none of them has been validated for use in patients after operation. The aim of the present study was to compare the amount of surgically removed fat with two different methods,

This paper presents arguments for a re-analysis of the b-prefix in Gulf Arabic dialects. Similar to several other dialects, Gulf Arabic possesses a b-prefix that is inserted before the p-stem (prefix form) of the verb. However, the Gulf Arabic b-prefix differs substantially from the one encountered in other Arabic dialects. According to most previous studies, the Gulf Arabic b-prefix encodes futur

Many axons follow wave-like undulating courses. This is a general feature of extracranial nerve segments, but is also found in some intracranial nervous tissue. The importance of axonal undulation has previously been considered, for example, in the context of biomechanics, where it has been shown that posture affects undulation properties. However, the importance of axonal undulation in the contex

BACKGROUND: Adjuvant treatment with tamoxifen reduces the risk of contralateral breast cancer in hormone-responsive postmenopausal patients, whereas the effect in premenopausal women has not been fully elucidated. We have therefore studied the effect of tamoxifen on contralateral breast cancer in premenopausal women in a controlled randomised trial. PATIENTS AND METHODS: Premenopausal women (564)

As emphasized in Part 1 of these guidelines, the diagnosis of pulmonary embolism (PE) is confirmed or refuted using ventilation/perfusion scintigraphy (V/P(SCAN)) or multidetector computed tomography of the pulmonary arteries (MDCT). To reduce the costs, the risks associated with false-negative and false-positive diagnoses, and unnecessary radiation exposure, preimaging assessment of clinical prob

OBJECTIVES: Intake of fish is an important source for many essential substances, such as n-3 PUFA. However, certain fish also contains relatively high levels of PCBs and dioxins. In Sweden, the concentrations of these compounds are higher in fatty fish caught at the east coast as compared to fish from the west coast. The aim of the present study was to assess cancer incidence and mortality pattern

To evaluate the relationship between the matrix degradation biomarkers, desmosine and isodesmosine (desmosines), and lung function.Plasma and creatinine-corrected urinary total desmosines (P- and U-desmosines), lung function and carbon monoxide diffusion capacity (DL,CO) were measured in a cohort of subjects from the Swedish Twin Registry.Concentrations of U- and P-desmosines were measured in 349

The Swedish Cancer Registry (founded in 1958) constitutes a unique resource for epidemiological studies of giant cell tumor of bone with potential for use for population-based studies of incidence over time. The aim of this study was to provide what we believe is the first modern population-based assessment of the incidence trends of giant cell tumor, a unique osteoclastogenic lytic stromal tumor

Most patients with acute myeloid leukemia (AML) are older, the median age is 71 years, and survival decreases rapidly with age. The achievement of complete remission and long-term survival mostly require intensive combination chemotherapy, but standard regimens are often believed to be too toxic for older patients. The Swedish Acute Leukemia Registry is unique and contains data on 98% of all patie

BACKGROUND: The recently introduced use of robotic surgery in minimally invasive surgery procedures facilitates several steps in the operative procedure. We report the first case of a robot-assisted laparoscopic repair of a Morgagni hernia using the da Vinci(R) Surgical System from Intuitive Surgical(R) (Sunnyvale, CA, USA) in a 7.8 kg 18-month-old child. METHODS: Four trocars were used to gain ac

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

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

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

Apnoea as well as cold stimulation of the face or the extremities elicits marked cardiovascular reflexes in humans. The purpose of this study was to investigate whether forearm immersion in cold water has any effect on the cardiovascular responses to face immersion and apnoea. We recorded cardiovascular responses to coldwater immersions of the forearm and face in 19 (part I) and 23 subjects (part

To estimate incremental costs for patients with psoriasis/psoriatic arthritis (PsO/PsA) compared to population-based referents free from PsO/PsA and estimate costs attributable specifically to PsO/PsA.