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Two major high-penetrance breast cancer genes, BRCA1 and BRCA2, are responsible for approximately 20% of hereditary breast cancer (HBC) cases in Finland. Additionally, rare mutations in several other genes that interact with BRCA1 and BRCA2 increase the risk of HBC. Still, a majority of HBC cases remain unexplained which is challenging for genetic counseling. We aimed to analyze additional mutatio
Lewy bodies, which are a pathological hallmark of Parkinson's disease, contain insoluble polymers of alpha-synuclein (alphasyn). Among the different modifications that can promote the formation of toxic alphasyn species, C-terminal truncation is among the most abundant alterations in patients with Parkinson's disease. In vitro, C-terminal truncated alphasyn aggregates faster and sub-stoichiometric
Gene fusions have been described in approximately one-third of soft tissue tumors (STT); of the 142 different fusions that have been reported, more than half are recurrent in the same histologic subtype. These gene fusions constitute pivotal driver mutations, and detailed studies of their cellular effects have provided important knowledge about pathogenetic mechanisms in STT. Furthermore, most fus
Laparoscopic skills training and evaluation outside the operating room is important for all surgeons learning new skills. To study feasibility, a video box trainer tracking 4-dimensional (4D) metrics was evaluated as a laparoscopic training tool.
Objective: Following the Ross operation, pulmonary autografts tend to dilate over time. This study researches the fate of the pulmonary autograft - at 4.5 years following the modified Ross operation - with special reference to the impact of the modification on (a) pulmonary autograft dilatation, (b) the neo-aortic root geometry, (c) neo-aortic valve function and (d) the coronary artery reserve. Me
AIM: In order to improve the patients' comfort and well-being during and after a stay in the intensive care unit (ICU), the patients' perspective on the intensive care experience in terms of memories is essential. The aim of this study was to describe unpleasant and pleasant memories of the ICU stay in adult mechanically ventilated patients. METHOD: Mechanically ventilated adults admitted for more
On 15 March 2012, Felix Baumgartner jumped from 71 500 feet [1], a test jump as part of his attempt to beat the earlier record set by Joe Kittinger, who jumped from 102 800 feet in 1960, as part of the US space programme [2] The ascent to these elevations in a helium balloon, followed by free fall, with varying temperatures and speed of sound, and increasing air resistance and density, can lead te
Label-free LC-MS analysis allows determining the differential expression level of proteins in multiple samples, without the use of stable isotopes. This technique is based on the direct comparison of multiple runs, obtained by continuous detection in MS mode. Only differentially expressed peptides are selected for further fragmentation, thus avoiding the bias toward abundant peptides typical of da
Sulfonylureas (SUs) are commonly used as add-on to metformin in treatment of type 2 diabetes in patients who are insufficiently controlled by metformin alone. They have good efficacy and have been shown to prevent microvascular complications. However, treatment with SUs is also associated with a high frequency of hypoglycemia, increased body weight, and a high risk of secondary failure. During rec
BACKGROUND: Outcome for resuscitated cardiac arrest (CA) patients is poor. The 1-year survival rate with favourable neurological outcome (CPC 1-2) after out-of-hospital CA is reported to be 4%. Among resuscitated patients treated within an ICU, approximately 50% regain consciousness, whereas the other 50% remain comatose before they die. Induced hypothermia significantly improves the neurological
OBJECTIVE:: Striatal serotonin projections have been implicated in levodopa-induced dyskinesia by providing an unregulated source of dopamine release. We set out to determine whether these projections are affected by levodopa treatment in a way that would favor the occurrence of dyskinesia. METHODS:: As an index of terminal serotonin innervation density, we measured radioligand binding to the plas
To relate the extent of portomesenteric thrombosis to the risk of intestinal infarction, concomitant venous thromboembolism and underlying diseases.
We investigated causal effect of completed growth, measured by adult height, on coronary heart disease (CHD), stroke and cardiovascular traits, using instrumental variable (IV) Mendelian randomization meta-analysis.
V/P(SPECT) has the potential to become a first hand tool for diagnosis of pulmonary embolism based on standardized technology and new holistic interpretation criteria. Pretest probability helps clinicians choose the most appropriate objective test for diagnosis or exclusion of PE. Interpretation should also take into account all ventilation and perfusion patterns allowing diagnosis of other cardio
SUMMARY: Graphical Gaussian Models (GGMs) are a promising approach to identify gene-regulatory networks. Such models can be robustly inferred by solving the sparse inverse covariance selection (SICS) problem. With the high dimensionality of genomics data, fast methods capable of solving large instances of SICS are needed.We developed a novel network modeling tool, Ultranet, that solves the SICS pr
In daily clinical practice, patients are frequently asked about their swallowing as part of the patient-clinician interview. This study compares the diagnostic performance of a single open question 'What about swallowing?' (usual care) with the Eating Assessment Tool (EAT-10) as reference test in screening for oropharyngeal dysphagia (OD). 303 outpatients at risk of OD were recruited at three univ
Brain-derived neurotrophic factor (BDNF) and other neurotrophins are believed to play an important role in affective disorders. In this study we investigated plasma-BDNF response during an incremental exercise test in 18 patients suffering from moderate major depressive disorder (MDD) and 18 controls. The patients were not treated with antidepressants or neuroleptics. Possible associations between
The susceptibility to urinary tract infection (UTI) is controlled by the innate immune response and Toll like receptors (TLRs) are the sentinels of this response. If productive, TLR4 signalling may initiate the symptomatic disease process. In the absence of TLR4 signalling the infected host instead develops an asymptomatic carrier state. The activation of mucosal TLR4 is also influenced by the pro
