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Abstract Background A giant congenital melanocytic nevus (GCMN) is found in 0.1% of live-born infants. If present, the lesion has a chance of about 6% to develop into malignant melanoma. Both children and adults can be affected by malignant melanoma arising in a giant congenital nevus. Up to 95% of GCMNs harbor NRAS mutations, and mutations in the BRAF, MC1R, TP53, and GNAQ genes have also been described. The individualization of therapy is required, but diagnostic and prognostic criteria remain controversial. Case presentations We report two cases: 1) melanoma arising in a giant congenital nevus during the first month of life complicated with neurocutaneous melanosis (NCM), and 2) melanoma arising in a giant congenital nevus during the first 6 months of life. Pathology, immunohistochemistry, and genetic analyses of tumor tissue were performed. The first case revealed only a non-pathogenic P72R polymorphism of the TP53 gene in the homozygote condition. For the second case, a Q61K mutation was detected in the NRAS gene. Conclusion Malignant melanoma associated with GCMN is rare and therefore poorly understood. Outcomes have been linked to the stage at diagnosis, but no additional pathological prognostic factors have been identified. The most frequent genetic event in giant CMNs is NRAS mutations, which was discovered in one of our cases. To accumulate evidence to improve disease prognosis and outcomes, children with congenital melanocytic nevus should be included in a systemic follow-up study from birth.

Approximately 15% of acral and mucous melanomas carry activating mutations in KIT oncogene. There is a diversity of spectrum of KIT mutations, with some of them rendering tumors responsive to imatinib, while others being imatinib-resistant or not studied yet. Here we present an acral melanoma patient with KIT р.T632I mutation, who failed to respond to imatinib.

The easternmost Mediterranean is a distinct transition zone from the ocean to the continent located at the junction between the largest Earth’s lithospheric segments: Eurasian and African. The methodology of paleomagnetic mapping of such transition zones is based on integrating the mapping techniques for both continental and oceanic platforms: paleomagnetic reconstructions, results of radiometric dating of magnetized rocks, tectonic-structural reconstructions, biogeography, and utilization of the results of various geophysical surveys. The geodynamic-paleomagnetic mapping makes it possible to reveal the multilevel structural heterogeneity and display complex elements of the geodynamics of different ages inherent in this transition zone. The region of northern Israel is the most complex area in the easternmost Mediterranean. For the combined paleomagnetic mapping, well-studied paleomagnetically and radiometrically areas were selected: (1) the Carmel area, (2) the Atlit area (internal part of the Carmel area), (3) the Sea of Galilee with the adjoining zones (primarily, the Kinnarot Valley), and (4) the area of the Hula Basin with adjacent areas of the Golan Plateau, Hermon Mt., and Galilea uplift. The constructed paleomagnetic profiles for the Carmel area (on the top of the accumulative surface of the Lower Cretaceous traps) and the Kinnarot Valley—Sea of Galilee—Hula Basin, evidently indicate the complex history of the paleogeodynamic evolution of the region. These studies demonstrate the effectiveness of paleomagnetic mapping integrated with paleomagnetic profiles crossing these geologically complex areas.

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive disease characterized by relentless increase in weakness of limb and respiratory muscles. Whereas the etiology is still not clear, there have been a remarkable progress in understanding ALS pathogenesis and pathophysiology over the last years. In 2017 the second drug that can alter ALS progression rate has been registered. Nevertheless, the prognosis remains very poor and the average life expectancy in ALS does not exceed 5 years. The most common causes of death in ALS are respiratory complications and respiratory failure. Consequently, monitoring of the respiratory system function in ALS patients by neurologists and pulmonologists is crucial for survival and prolongation of life in this condition. Currently the most available diagnostic tool for the assessment of the respiratory profile in ALS is spirometry. Other methods, such as measurement of sniff nasal pressure, overnight oximetry and polysomnography, are also important but, due to technical complexity, their use in routine practice is limited. The principal method of respiratory support used in ALS is noninvasive lung ventilation (NIV). It can increase the average life expectancy and improve the patients quality of life. Invasive lung ventilation with endotracheal tube is another technique that can increase life expectancy and improve quality of life. However, the number of patients accepting this type of mechanical ventilation is very low. Multidisciplinary approach involving different medical specialists including neurologists, pulmonologists and critical care physicians is the key to successive management of ALS patients with respiratory disorders.

The origin of the man on Earth is directly associated with the determination of directions of the flow distribution of the ancient man dispersal to adjacent territories. In such studies, mainly landscape and climatological changes are traditionally considered. We suggest that along with the above factors, regional tectonic-geodynamic factors played a dominant role in the character of dispersal. The considered African-Levantine-Caucasian region is one of the most geologically complex regions of the world, where collisional and spreading processes of geodynamics converge. For the first time, we determined an essential influence of the Akchagylian hydrospheric maximum (about 200 m above the mean sea level) limiting the early dispersal of hominins from Africa to Eurasia. We propose that the Levantine Corridor emerged after the end of the Akchagylian transgression and landscape forming in the Eastern Mediterranean. This corridor location was formed by the movements between the Dead Sea Transform and the boundary of the carbonate platform of the Mesozoic Terrane Belt. Further landscape evolution was largely determined by the geodynamic behavior of the deep mantle rotating structure occurring below the central part of the region under study. All the mentioned events around and in the Levantine Corridor have been studied in detail on the basis of the combined geodynamic, paleogeographic, and paleomagnetic analyses performed in northern Israel (Carmel Uplift and Galilee Plateau). Careful studies of the Evron Quarry geological section indicate that it is unique for the dating of marine and continental archaeological sequences and sheds light on the early dispersal of hominins along the Levantine Corridor.

This article presents our experience in development an ontological model can be used in clinical decision support systems (CDSS) creating. We have used the largest international biomedical terminological metathesaurus the Unified Medical Language System (UMLS) as the basis of our model. This metathesaurus has been adapted into Russian using an automated hybrid translation system with expert control. The product we have created was named as the National Unified Terminological System (NUTS). We have added more than 33 million scientific and clinical relationships between NUTS terms, extracted from the texts of scientific articles and electronic health records. We have also computed weights for each relationship, standardized their values and created symptom checker in preliminary diagnostics based on this. We expect, that the NUTS allow solving task of named entity recognition (NER) and increasing terms interoperability in different CDSS. [ABSTRACT FROM AUTHOR]