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CONCLUSIONS BLAMM is an efficient tool for identifying PWM matches in large DNA sequences. Its C++ source code is available under the GNU General Public License Version 3 at https//github.com/biointec/blamm.BACKGROUND Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in genes associated with the RAS / mitogen-activated protein kinase (MAPK) pathway. In several studies PTPN11 is one of the genes with a significant number of pathogenic variants in NS-affected patients. Therefore, clinically diagnosed NS individuals are initially tested for pathogenic variants in PTPN11 gene to confirm the relationship before studying genotype-phenotype correlation. METHODS Individuals (363) with clinically diagnosed NS from four hospitals in South India were recruited and the exons of PTPN11 gene were sequenced. RESULTS Thirty-two previously described pathogenic variants in eight different exons in PTPN11 gene were detected in 107 patients, of whom 10 were familial cases. Exons 3, 8 and 13 had the highest number of pathogenic variants. The most commonly identified pathogenic variants in this series were in exon 8 (c.922A > G, c.923A > G), observed in 22 of the affected. Congenital cardiac anomalies were present in 84% of the mutation-positive cohort, the majority being defects in the right side of the heart. The most common facial features were downward-slanting palpebral fissures, hypertelorism and low-set posteriorly rotated ears. Other clinical features included short stature (40%), pectus excavatum (54%) and, in males, unilateral or bilateral cryptorchidism (44%). CONCLUSION The clinical features and mutational spectrum observed in our cohort are similar to those reported in other large studies done worldwide. This is the largest case series of NS-affected individuals with PTPN11 mutations described till date from India.BACKGROUND The actual task of electrocardiographic examinations is to increase the reliability of diagnosing the condition of the heart. Within the framework of this task, an important direction is the solution of the inverse problem of electrocardiography, based on the processing of electrocardiographic signals of multichannel cardio leads at known electrode coordinates in these leads (Titomir et al. Noninvasiv electrocardiotopography, 2003), (Macfarlane et al. Comprehensive Electrocardiology, 2nd ed. (Chapter 9), 2011). RESULTS In order to obtain more detailed information about the electrical activity of the heart, we carry out a reconstruction of the distribution of equivalent electrical sources on the heart surface. In this area, we hold reconstruction of the equivalent sources during the cardiac cycle at relatively low hardware cost. ECG maps of electrical potentials on the surface of the torso (TSPM) and electrical sources on the surface of the heart (HSSM) were studied for different times of the cardiac cycle. We carried out a visual and quantitative comparison of these maps in the presence of pathological regions of different localization. For this purpose we used the model of the heart electrical activity, based on cellular automata. CONCLUSIONS The model of cellular automata allows us to consider the processes of heart excitation in the presence of pathological regions of various sizes and localization. It is shown, that changes in the distribution of electrical sources on the surface of the epicardium in the presence of pathological areas with disturbances in the conduction of heart excitation are much more noticeable than changes in ECG maps on the torso surface.BACKGROUND Hi-C is a molecular biology technique to understand the genome spatial structure. However, data obtained from Hi-C experiments is biased. BL-918 solubility dmso Therefore, several methods have been developed to model Hi-C data and identify significant interactions. Each method receives its own Hi-C data structure and only work on specific operating systems. RESULTS We introduce MHiC (Multi-function Hi-C data analysis tool), a tool to identify and visualize statistically signifiant interactions from Hi-C data. The MHiC tool (i) works on different operating systems, (ii) accepts various Hi-C data structures from different Hi-C analysis tools such as HiCUP or HiC-Pro, (iii) identify significant Hi-C interactions with GOTHiC, HiCNorm and Fit-Hi-C methods and (iv) visualizes interactions in Arc or Heatmap diagram. MHiC is an open-source tool which is freely available for download on https//github.com/MHi-C. CONCLUSIONS MHiC is an integrated tool for the analysis of high-throughput chromosome conformation capture (Hi-C) data.BACKGROUND In the field of protein engineering and biotechnology, the discovery and characterization of structural patterns is highly relevant as these patterns can give fundamental insights into protein-ligand interaction and protein function. This paper presents GSP4PDB, a bioinformatics web tool that enables the user to visualize, search and explore protein-ligand structural patterns within the entire Protein Data Bank. RESULTS We introduce the notion of graph-based structural pattern (GSP) as an abstract model for representing protein-ligand interactions. A GSP is a graph where the nodes represent entities of the protein-ligand complex (amino acids and ligands) and the edges represent structural relationships (e.g. distances ligand - amino acid). The novel feature of GSP4PDB is a simple and intuitive graphical interface where the user can "draw" a GSP and execute its search in a relational database containing the structural data of each PDB entry. The results of the search are displayed using the same graph-based representation of the pattern. The user can further explore and analyse the results using a wide range of filters, or download their related information for external post-processing and analysis. CONCLUSIONS GSP4PDB is a user-friendly and efficient application to search and discover new patterns of protein-ligand interaction.BACKGROUND Previously, a seven-cluster pattern claiming to be a universal one in bacterial genomes has been reported. Keeping in mind the most popular theory of chloroplast origin, we checked whether a similar pattern is observed in chloroplast genomes. RESULTS Surprisingly, eight cluster structure has been found, for chloroplasts. The pattern observed for chloroplasts differs rather significantly, from bacterial one, and from that latter observed for cyanobacteria. The structure is provided by clustering of the fragments of equal length isolated within a genome so that each fragment is converted in triplet frequency dictionary with non-overlapping triplets with no gaps in frame tiling. The points in 63-dimensional space were clustered due to elastic map technique. The eight cluster found in chloroplasts comprises the fragments of a genome bearing tRNA genes and exhibiting excessively high GC-content, in comparison to the entire genome. CONCLUSION Chloroplasts exhibit very specific symmetry type in distribution of coding and non-coding fragments of a genome in the space of triplet frequencies this is mirror symmetry. Cyanobacteria may have both mirror symmetry, and the rotational symmetry typical for other bacteria.BACKGROUND The poorly known mycobacterial species Mycobacterium monacense is a rapidly growing non-tuberculous mycobacterium that was first described in 2006 (Reischl et al., Int J Syst Evol Microbiol 562575-8, 2006); it has been reported that its isolation is usually associated with skin and lung infections, especially in immunosuppressed patients (Hogardt et al., Jpn J Infect Dis 6177-8, 2008; Taieb et al., J Hand Surg Am 3394-6, 2008; Therese et al., Lung India 28124-6, 2011; Shojaei et al., Ann Lab Med 3287-90, 2012; Romero et al., New Microbes New Infect 10112-5, 2016 ). The clinical significance of Mycobacterium monacense is not yet fully understood. Here, we report the first isolation of Mycobacterium monacense from the blood culture of a patient in China with severe pneumonia. CASE PRESENTATION On June 26, 2018, a 38-year-old man was admitted to the intensive care unit with breathing difficulty. One day prior, he was discovered with his face immersed in a small pond (non-chlorinated water) and with limental microorganism possessed pathogenic characteristics.BACKGROUND To evaluate the role of the quality improvement course (QIC) to reduce the caesarean section (CS) rate among nulliparas (Robson groups 1 and 2) and to find out which group of women have reduced the CS rate following attendance at the course. METHODS The QIC was organized in 2015. For the evaluation of the CS rate after the OIC, deliveries from the selected hospitals in 2014 and 2016 were compared using MS EXCEL and SPSS 23.0. RESULTS Nulliparas accounted for 44.6% (3585/8046) and 42.9% (3628/8460) of all the deliveries in 2014 and 2016 years, respectively. The CS rate among nulliparas decreased from 19.0% (665/3502) in 2014 to 16.8% (593/3526) in 2016 (p = 0.018). The greatest decrease in absolute contribution to the overall CS rate was recorded in group 1 (p = 0.08). Perinatal mortality was 3.1 in 2014 and 3.9 in 2016 per 1000 deliveries (p = 0.569). CONCLUSION The QIC has helped to reduce the CS rate among nulliparas without a negative influence on perinatal mortality. The greatest decrease in the overall CS rate was recorded among nulliparous women who were treated with oxytocin and managed to reach a full cervical dilatation.INTRODUCTION Intracranial neoplasms are an uncommon cause of symptomatic parkinsonism. We here report a patient with an extensive middle and posterior fossa arachnoid cyst presenting with parkinsonism that was treated by neurosurgical intervention. METHODS Retrospective chart review and clinical examination of the patient. CASE REPORT This 55-year-old male patient with hemiparkinsonism and recurrent bouts of headaches was first diagnosed in 1988. CT scans revealed multiple cystic lesions compressing brainstem and basal ganglia, which were partially resected. Subsequently, the patient was free of complaints for 20 years. In 2009 the patient presented once more with severe unilateral tremor and thalamic pain affecting the right arm. Despite symptomatic treatment with L-Dopa and pramipexole symptoms worsened over time. In 2014 there was further progression with increasing hemiparkinsonism, hemidystonia, unilateral thalamic pain and pyramidal signs. Repeat CT scanning revealed a progression of the cysts as well as secondary hydrocephalus. Following repeat decompression of the brainstem and fenestration of all cystic membranes parkinsonism improved with a MDS- UPDRS III score reduction from 39 to 21. Histology revealed arachnoid cystic material. CONCLUSION We report on a rare case of recurrent symptomatic hemiparkinsonism resulting from arachnoid cysts.BACKGROUND In Thailand, dengue fever is one of the most well-known public health problems. The objective of this study was to examine the epidemiology of dengue and determine the seasonal pattern of dengue and its associate to climate factors in Bangkok, Thailand, from 2003 to 2017. METHODS The dengue cases in Bangkok were collected monthly during the study period. The time-series data were extracted into the trend, seasonal, and random components using the seasonal decomposition procedure based on loess. The Spearman correlation analysis and artificial neuron network (ANN) were used to determine the association between climate variables (humidity, temperature, and rainfall) and dengue cases in Bangkok. RESULTS The seasonal-decomposition procedure showed that the seasonal component was weaker than the trend component for dengue cases during the study period. The Spearman correlation analysis showed that rainfall and humidity played a role in dengue transmission with correlation efficiency equal to 0.396 and 0.