Tissue multifractality and Born approximation in analysis of light scattering: a novel approach for precancers detection

Multifractal, a special class of complex self-affine processes, are under recent intensive investigations because of their fundamental nature and potential applications in diverse physical systems. Here, we report on a novel light scattering-based inverse method for extraction/quantification of multifractality in the spatial distribution of refractive index of biological tissues. The method is based on Fourier domain pre-processing via the Born approximation, followed by the Multifractal Detrended Fluctuation Analysis. The approach is experimentally validated in synthetic multifractal scattering phantoms, and tested on biopsy tissue slices. The derived multifractal properties appear sensitive in detecting cervical precancerous alterations through an increase of multifractality with pathology progression, demonstrating the potential of the developed methodology for novel precancer biomarker identification and tissue diagnostic tool. The novel ability to delineate the multifractal optical properties from light scattering signals may also prove useful for characterizing a wide variety of complex scattering media of non-biological origin

A census of fishes and everything they eat: how the Census of Marine Life advanced fisheries science

The Census of Marine Life was a 10-year, international research effort to explore poorly known ocean habitats and conduct large-scale experimentation with new technology. The goal of Census 2010 in its mission statement was to describe what did live in the oceans, what does live in the oceans, and what will live in the ocean. Many of the findings and techniques from census research may prove valuable in making a transition, which many governments have publicly endorsed, from single-species fisheries management to more holistic ecosystem management. Census researchers sampled continental margins, mid-Atlantic ridges, ocean floor vents and seeps, and abyssal plains and polar seas and organized massive amounts of past and new information in a public online database called the Ocean Biogeographic Information System (www.iobis.org). The census described and categorized seamount biology worldwide for its vulnerability to fishing, advanced large-scale animal tracking with acoustic arrays and satellite archival tags, and accelerated species identification, including nearshore, coral reef, and zooplankton sampling using genetic barcoding and pyrotag sequencing for microbes and helped to launch the exciting new field of marine environmental history. Above all, the census showed the value of investing in large-scale, collaborative projects and sharing results publicly

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).

BACKGROUND: Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known about the biochemical function of the protein; however, prior studies have shown essential roles for several aspects of embryonic development including the eye, midbrain, neural tube and reproductive organs. OBJECTIVE: A homozygous truncating variant in MAB21L1 has recently been described in a male affected by intellectual disability, scrotal agenesis, ophthalmological anomalies, cerebellar hypoplasia and facial dysmorphism. We employed a combination of exome sequencing and homozygosity mapping to identify the underlying genetic cause in subjects with similar phenotypic features descending from five unrelated consanguineous families. RESULTS: We identified four homozygous MAB21L1 loss of function variants (p.Glu281fs*20, p.Arg287Glufs*14 p.Tyr280* and p.Ser93Serfs*48) and one missense variant (p.Gln233Pro) in 10 affected individuals from 5 consanguineous families with a distinctive autosomal recessive neurodevelopmental syndrome. Cardinal features of this syndrome include a characteristic facial gestalt, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds and scrotum/scrotal agenesis as well as cerebellar hypoplasia with ataxia and variable microcephaly. CONCLUSION: This report defines an ultrarare but clinically recognisable Cerebello-Oculo-Facio-Genital syndrome associated with recessive MAB21L1 variants. Additionally, our findings further support the critical role of MAB21L1 in cerebellum, lens, genitalia and as craniofacial morphogenesis

Дослідження «великого терору» у науково-документальній серії книг «Реабілітовані історією»

У статті автор аналізує результати дослідження «великого терору» 1937–1938 рр. у контексті реалізації Державної програми науково-документальної серії книг «Реабілітовані історією».В статье автор анализирует результаты исследования «большого террора» 1937–1938 гг. в контексте реализации Государственной программы научно-документальной серии книг «Реабилитированные историей».The author analyzes the results of a study of the «great terror» 1937–1938 in the context of implementing the State Program for Research, a documentary series of books «Rehabilitated history»

Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease)

The neuronal ceroid lipofuscinoses are a group of lysosomal storage disorders that comprise the most common, genetically heterogeneous, fatal neurodegenerative disorders of children. They are characterised by childhood onset, visual failure, epileptic seizures, psychomotor retardation and dementia. CLN3 disease, also known as Batten disease, is caused by autosomal recessive mutations in the CLN3 gene, 80–85% of which are a ~1 kb deletion. Currently no treatments exist, and after much suffering, the disease inevitably results in premature death. The aim of this study was to generate a zebrafish model of CLN3 disease using antisense morpholino injection, and characterise the pathological and functional consequences of Cln3 deficiency, thereby providing a tool for future drug discovery. The model was shown to faithfully recapitulate the pathological signs of CLN3 disease, including reduced survival, neuronal loss, retinopathy, axonopathy, loss of motor function, lysosomal storage of subunit c of mitochondrial ATP synthase, and epileptic seizures, albeit with an earlier onset and faster progression than the human disease. Our study provides proof of principle that the advantages of the zebrafish over other model systems can be utilised to further our understanding of the pathogenesis of CLN3 disease and accelerate drug discovery

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development. We performed a high-content genome wide siRNA screen to identify genes regulating ciliogenesis as candidates for JS. We analyzed results with a supervised learning approach, using SYSCILIA gold standard, Cildb3.0, a centriole siRNA screen and the GTex project, identifying 591 likely candidates. Intersection of this data with whole exome results from 145 individuals with unexplained JS identified six families with predominantly compound heterozygous mutations in KIAA0586. A c.428del base deletion in 0.1% of the general population was found in trans with a second mutation in an additional set of 9 of 163 unexplained JS patients. KIAA0586 is an orthologue of chick Talpid3, required for ciliogenesis and sonic hedgehog signaling. Our results uncover a relatively high frequency cause for JS and contribute a list of candidates for future gene discoveries in ciliopathies

Information professionals and copyright literacy: a multinational study

Purpose: The purpose of this paper is to present findings from a multinational survey on copyright literacy of specialists from libraries and other cultural institutions. Design/methodology/approach: This paper is based on a multinational survey of copyright literacy competencies of Library and Information Science (LIS) professionals and those who work in the cultural heritage sector (archives and museums), conducted in 13 countries, namely Bulgaria (BG), Croatia (CR), Finland (FI), France (FR), Hungary (HU), Lithuania (LT), Mexico (MX), Norway (NO), Portugal (PT), Romania (RO), Turkey (TR), UK and USA in the period July 2013-March 2015. An online survey instrument was developed in order to collect data from professionals regarding their familiarity with, knowledge and awareness of, and opinions on copyright-related issues. Findings: Findings of this study highlight gaps in existing knowledge of copyright, and information about the level of copyright literacy of LIS and cultural sector professionals. Also attitudes toward copyright learning content in academic education and continuing professional development training programs are investigated. Originality/value: This study aimed to address a gap in the literature by encompassing specialists from the cultural institutions in an international comparative context. The paper offers guidance for further understanding of copyright in a wider framework of digital and information literacy; and for the implementation of copyright policy, and the establishment of copyright advisor positions in cultural institutions. The recommendations support a revision of academic and continuing education programs learning curriculum and methods

Satellite Tracking Reveals Long Distance Coastal Travel and Homing by Translocated Estuarine Crocodiles, Crocodylus porosus

Crocodilians have a wide distribution, often in remote areas, are cryptic, secretive and are easily disturbed by human presence. Their capacity for large scale movements is poorly known. Here, we report the first study of post-release movement patterns in translocated adult crocodiles, and the first application of satellite telemetry to a crocodilian. Three large male Crocodylus porosus (3.1–4.5 m) were captured in northern Australia and translocated by helicopter for 56, 99 and 411 km of coastline, the last across Cape York Peninsula from the west coast to the east coast. All crocodiles spent time around their release site before returning rapidly and apparently purposefully to their capture locations. The animal that circumnavigated Cape York Peninsula to return to its capture site, travelled more than 400 km in 20 days, which is the longest homeward travel yet reported for a crocodilian. Such impressive homing ability is significant because translocation has sometimes been used to manage potentially dangerous C. porosus close to human settlement. It is clear that large male estuarine crocodiles can exhibit strong site fidelity, have remarkable navigational skills, and may move long distances following a coastline. These long journeys included impressive daily movements of 10–30 km, often consecutively