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The 999del5 mutation is the single, strong BRCA2 founder mutation in Iceland and the most common BRCA1/2 founder mutation in Finland. To evaluate the origin and time since spreading of the 999del5 mutation in Iceland and in Finland, we constructed haplotypes with polymorphic markers within and flanking the BRCA2 gene in a set of 18 Icelandic and 10 Finnish 999del5 breast cancer families. All Icela

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Background Despite the long history of tuberculosis (TB) research, population-based studies from developing countries are rare. Methods In a prospective community study in Bissau, the capital of Guinea-Bissau, we assessed the impact of demographic, socioeconomic and cultural risk factors on active TB. A surveillance system in four districts of the capital identified 247 adult (greater than or equa

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OBJECTIVE: To evaluate a modified uterine artery score based on the pulsatility index and presence or absence of notching in the Doppler velocity waveform recorded from both uterine arteries in relation to the perinatal outcome. METHODS: A retrospective analysis was performed in 741 third-trimester high-risk pregnancies. The uterine artery score was constructed assigning one point to each abnormal

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Popular Abstract in Swedish Vilken roll staten kan och bör spela för att få till stånd ekonomisk utveckling hör till den ekonomiska vetenskapens äldsta debatter. Trots detta har tidigare forskning ofta fokuserat på hur en rad statliga interventioner påverkar den statiska effektiviteten. Få studier har försökt studera hur statlig intervention och en aktiv näringspolitik påverkar så kallad dynamisk What role the state should and can play in bringing about economic development is one of the longest standing debates in the economic sciences. Yet, previous research has mostly focused on how a variety of industrial policies affect static efficiency. Few studies have tried to analyze how industrial policy and government intervention affects dynamic efficiency, i.e. an economy's ability to generat

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This study addressed the interaction between short-term adaptation to apneas with face immersion and erythrocyte release from the spleen. Twenty healthy volunteers, including ten splenectomized subjects, participated. After prone rest, they performed five maximal-duration apneas with face immersion in 10 degrees C water, with 2-min intervals. Cardiorespiratory parameters and venous blood samples w

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Neuromuscular disorders (NMDs) affect 1 in 3000 people worldwide. There are more than 150 different types of NMDs, where the common feature is the loss of muscle strength. These disorders are classified according to their neuroanatomical location, as motor neuron diseases, peripheral nerve diseases, neuromuscular junction diseases, and muscle diseases. Over the years, numerous studies have pointed

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AIM: While the scientific evidence in favour of negative pressure wound therapy (NPWT) dressings on sutured incisions in the prevention of surgical site infections (SSIs) has increased, the cost-effectiveness after vascular surgery has not been evaluated. The aim of this study was to evaluate the cost-effectiveness of NPWT compared to standard dressings for the prevention of SSIs after open inguin

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Ptychographic X-ray imaging at the highest spatial resolution requires an optimal experimental environment, providing a high coherent flux, excellent mechanical stability and a low background in the measured data. This requires, for example, a stable performance of all optical components along the entire beam path, high temperature stability, a robust sample and optics tracking system, and a scatt

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The Gaia-ESO Survey (GES) observed many open clusters as part of its programme to spectroscopically characterize the various Milky Way populations. GES spectroscopy and Gaia astrometry from its second data release are used here to assign membership probabilities to targets towards 32 open clusters with ages from 1 to 3800 Myr, based on maximum likelihood modelling of the 3D kinematics of the clust

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Century-long observed gridded land precipitation datasets are a cornerstone of hydrometeorological research. But recent work has suggested that observed Northern Hemisphere midlatitude (NHML) land mean precipitation does not show evidence of an expected negative response to mid-twentieth-century aerosol forcing. Utilizing observed river discharges, the observed runoff is calculated and compared wi

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If genome sequencing is performed in health care, in theory the opportunity arises to take a further look at the data: opportunistic genomic screening (OGS). The European Society of Human Genetics (ESHG) in 2013 recommended that genome analysis should be restricted to the original health problem at least for the time being. Other organizations have argued that ‘actionable’ genetic variants should

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Pesticide use is increasing in many parts of sub-Saharan Africa, and many smallholders purchase, handle, and apply toxic pesticides with inadequate equipment, knowledge, and technical support. Through the frame of environmental justice, this literature-based study analyzes characteristics, impacts, and drivers of smallholder pesticide use in sub-Saharan Africa, with particular attention to Uganda

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Summary: Chronic critical lower limb ischemia (CLI) has been defined as ischemia that endangers the leg. An attempt was made to give a precise definition of CLI, based on clinical and hemodynamic data (Second European Consensus). CLI may be easily defined from a clinical point of view as rest pain of the distal foot or gangrene or ulceration. It is probably useful to add leg ulcers of other origin

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The Phoenicians were the dominant traders in the Mediterranean Sea two thousand to three thousand years ago and expanded from their homeland in the Levant to establish colonies and trading posts throughout the Mediterranean, but then they disappeared from history. We wished to identify their male genetic traces in modern populations. Therefore, we chose Phoenician-influenced sites on the basis of

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Lebanon is an eastern Mediterranean country inhabited by approximately four million people with a wide variety of ethnicities and religions, including Muslim, Christian, and Druze. In the present study, 926 Lebanese men were typed with Y-chromosomal SNP and STR markers, and unusually, male genetic variation within Lebanon was found to be more strongly structured by religious affiliation than by ge

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BACKGROUND: Brevican and neurocan are central nervous system-specific extracellular matrix proteoglycans. They are degraded by extracellular enzymes, such as metalloproteinases. However, their degradation profile is largely unexplored in cerebrospinal fluid (CSF).OBJECTIVE: The study aim was to quantify proteolytic peptides derived from brevican and neurocan in human CSF of patients with Alzheimer

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Artificial intelligence (AI) applications are increasingly seeing use in breast imaging, particularly to assist in or automate the reading of mammograms. Another novel technique is mechanical imaging (MI) which estimates the relative stiffness of suspicious breast abnormalities by measuring the distribution of pressure on the compressed breast. This study investigates the feasibility of combining

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Attachment theory and research are drawn upon in many applied settings, including family courts, but misunderstandings are widespread and sometimes result in misapplications. The aim of this consensus statement is, therefore, to enhance understanding, counter misinformation, and steer family-court utilisation of attachment theory in a supportive, evidence-based direction, especially with regard to