214 research outputs found
Lichen sclerosus on the sites of striae distensae and a surgical scar in a patient with coexistent morphea
No abstract availabl
Technology dictates algorithms: Recent developments in read alignment
Massively parallel sequencing techniques have revolutionized biological and
medical sciences by providing unprecedented insight into the genomes of humans,
animals, and microbes. Modern sequencing platforms generate enormous amounts of
genomic data in the form of nucleotide sequences or reads. Aligning reads onto
reference genomes enables the identification of individual-specific genetic
variants and is an essential step of the majority of genomic analysis
pipelines. Aligned reads are essential for answering important biological
questions, such as detecting mutations driving various human diseases and
complex traits as well as identifying species present in metagenomic samples.
The read alignment problem is extremely challenging due to the large size of
analyzed datasets and numerous technological limitations of sequencing
platforms, and researchers have developed novel bioinformatics algorithms to
tackle these difficulties. Importantly, computational algorithms have evolved
and diversified in accordance with technological advances, leading to todays
diverse array of bioinformatics tools. Our review provides a survey of
algorithmic foundations and methodologies across 107 alignment methods
published between 1988 and 2020, for both short and long reads. We provide
rigorous experimental evaluation of 11 read aligners to demonstrate the effect
of these underlying algorithms on speed and efficiency of read aligners. We
separately discuss how longer read lengths produce unique advantages and
limitations to read alignment techniques. We also discuss how general alignment
algorithms have been tailored to the specific needs of various domains in
biology, including whole transcriptome, adaptive immune repertoire, and human
microbiome studies
Dense matter with eXTP
In this White Paper we present the potential of the Enhanced X-ray Timing and
Polarimetry (eXTP) mission for determining the nature of dense matter; neutron
star cores host an extreme density regime which cannot be replicated in a
terrestrial laboratory. The tightest statistical constraints on the dense
matter equation of state will come from pulse profile modelling of
accretion-powered pulsars, burst oscillation sources, and rotation-powered
pulsars. Additional constraints will derive from spin measurements, burst
spectra, and properties of the accretion flows in the vicinity of the neutron
star. Under development by an international Consortium led by the Institute of
High Energy Physics of the Chinese Academy of Science, the eXTP mission is
expected to be launched in the mid 2020s.Comment: Accepted for publication on Sci. China Phys. Mech. Astron. (2019
Cutaneous tuberculosis: Retrospective analysis of 64 cases
Deri tüberkülozu, gelişmiş ülkelerde önemli ölçüde azalmış olmakla birlikte, özellikle Asya ve Afrika ülkelerinde günümüze değin görülmeyi sürdürmüştür. Yirminci yüzyılın ikinci yarısında Türkiye'nin çeşitli bölgelerinden deri tüberkülozu olgu serileri bildirilmiştir. Skrofuloderma, lupus vulgaris ve tüberkülozis verrükoza kutis en sık görülen deri tüberkülozu tipleri olarak dikkat çekmekte ve hastalık coğrafi bölgelere göre farklı klinik özellikler gösterebilmektedir. Çalışmamızda, 1988-2000 yılları arasında istanbul Tıp Fakültesi Dermatoloji Anabilim Dalı'nda deri tüberkülozu tanısı konulan 64 olgu retrospektif olarak değerlendirildi. Hastalığın epidemiyolojik ve bazı klinik özellikleri incelendi. Çalışma süresinin sonuna doğru deri tüberkülozunda bir azalma eğilimi olduğu dikkat çekti. Lupus vulgaris diğer tiplere göre oldukça sık (%79.8) görülürken, skrofuloderma ikinci sırada (%15.6) yer aldı, tüberkülozis verrükoza kutis ise oldukça seyrek bulundu (%4.6). Çalışma grubunda lupus vulgaris en sık yanakta, skrofuloderma ise en sık boyunda yerleşmişti.Background and design: Though the incidence of cutaneous tuberculosis is decreased in developed countries, it is still prevalent in Asian and African countries. Many cases with cutaneous tuberculosis were reported from various regions of Turkey in the second part of the 20th century. The clinical forms of cutaneous tuberculosis may show some differences depending on the geographic distribution. Materials and Methods: Sixty-four cases of cutaneous tuberculosis diagnosed from January 1988 to December 2000 in the Dermatology department of Istanbul Medical Faculty were studied retrospectively. The epidemiologic and some clinical features of the disease were investigated. Results: The number of cutaneous tuberculosis cases showed tendency to decrease during this period. Lupus vulgaris was the most common clinical form (79.8 %) of the disease and this was followed by scrofuloderma (15.6 %) and tuberculosis verrucosa cutis (4.6 %). Lupus vulgaris lesions had a predilection for the cheek and scrofuloderma lesions had a predilection for the neck. Conclusions: Cutaneous tuberculosis still continues to be encountered in the Dermatology clinics in Turkey but with a decreasing frequency. Lupus vulgaris seems to be the most commmon form of the disease in Istanbul
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