Antimicrobial activities of aqueous extracts and essential oils of two endemic species from Turkey

221-224<i style="mso-bidi-font-style: normal">Salvia and Ballota species of Lamiaceae have been used in the traditional medicine. Salvia heldreichiana Boiss. Ex Bentham, Ballota saxatilis subsp. brachyodonta Boiss. P. H. Davis &amp; Doroszenko. are endemics, found in Mersin-Hatay-Adana region and to our knowledge their antimicrobial activities never been researched before. Antimicrobial activities of the aqueous extracts (herbal extract) (AE) and essential oils (EO) of two endemic plants were screened again nine human pathogenic bacteria and yeast. Aqueous extracts (AE) and essential oils (EO) of these plants were investigated against four Gram-positive bacteria, three Gram-negative bacteria and two yeast species. Antimicrobial activity were determined by using macrodilution method. The aqueous extracts of the plants showed rather low antimicrobial activity against the studied microorganisms than their essential oils. Minimum inhibitory concentration (MIC) values have been changed in the range of 0.78-50 μg/ml. The aqueous extracts and essential oils of Ballota saxatilis subsp. brachyodonta and Salvia heldreichiana possess compounds with antimicrobial effect against pathogen microorganisms. Further studies should be carried out in order to reveal their potential. </span

Role of genetics in pediatric rheumatology

Pediatric rheumatology includes autoinflammatory monogenic diseases, autoinflammatory multifactorial diseases with complex inheritance, and diseases with uncertain clinical diagnosis or undefined conditions, even though they show signs of autoinflammation. Most of these diseases are systemic; it is important to diagnose patients promptly and definitively and to select proper treatment options based on the diagnoses. Clinical observation and acute-phase responses are usually sufficient for diagnosis; however, genetic analyses can provide supportive data for definite diagnosis and treatment, especially for rare monogenic diseases. As for multifactorial autoinflammatory diseases, susceptibility genes, and factors involved in the etiopathogenesis have not been fully identified. It is possible to identify disease genes and novel diseases, and lead to new treatment options by gene mapping studies and high-throughput screening strategies for multifactorial diseases and conditions with uncertain clinical characteristics. In this review, we discuss the three groups of autoinflammatory diseases and role of genetics in their diagnosis

Role of genetics in pediatric rheumatology

Pediatric rheumatology includes autoinflammatory monogenic diseases, autoinflammatory multifactorial diseases with complex inheritance, and diseases with uncertain clinical diagnosis or undefined conditions, even though they show signs of autoinflammation. Most of these diseases are systemic; it is important to diagnose patients promptly and definitively and to select proper treatment options based on the diagnoses. Clinical observation and acute-phase responses are usually sufficient for diagnosis; however, genetic analyses can provide supportive data for definite diagnosis and treatment, especially for rare monogenic diseases. As for multifactorial autoinflammatory diseases, susceptibility genes, and factors involved in the etiopathogenesis have not been fully identified. It is possible to identify disease genes and novel diseases, and lead to new treatment options by gene mapping studies and high-throughput screening strategies for multifactorial diseases and conditions with uncertain clinical characteristics. In this review, we discuss the three groups of autoinflammatory diseases and role of genetics in their diagnosis

Alternatively spliced MEFV transcript lacking exon 2 and its protein isoform pyrin-2d implies an epigenetic regulation of the gene in inflammatory cell culture models

Abstract The function of gene body DNA methylation in alternative splicing, and its relation to disease pathogenesis is not fully elucidated. The gene for familial Mediterranean fever (MEFV) encodes the pyrin protein and contains a 998 bp CpG island, covering the second exon, which is differentially methylated in FMF patients compared to healthy controls. Our further observation of increased exon 2-spliced MEFV transcript in leukocytes of FMF patients provoked us to test the role of exon methylation in alternative splicing using inflammatory cell culture models. First, in vitro exon methylation triggered an increased level of exon 2 exclusion using a splicing cassette in a promyelocytic leukemia cell line (HL-60). HL-60 cells subjected to methylating and demethylating agents, as well as cells differentiated to neutrophil-like cells, exhibited different levels of spliced/unspliced transcripts. We observed increased levels of spliced transcripts in neutrophil-like (p = 0.0005), activated (p = 0.0034) and methylated cells (p < 0.0001), whereas decreased levels in demethylated cells (p = 0.0126) compared to control untreated HL-60 cells. We also showed that the protein isoform of pyrin lacking the exon 2 has an adverse subcellular localization in neutrophil-like cells. Therefore, it remains in the cytoplasm rather than the nucleus. This may point to an epigenetic involvement in an important inflammatory gene

Investigation of multiple sclerosis-related pathways through the integration of genomic and proteomic data

Background. Multiple sclerosis (MS) has a complex pathophysiology, variable clinical presentation, and unpredictable prognosis; understanding the underlying mechanisms requires combinatorial approaches that warrant the integration of diverse molecular omics data. Methods. Here, we combined genomic and proteomic data of the same individuals among a Turkish MS patient group to search for biologically important networks. We previously identified differentially-expressed proteins by cerebrospinal fluid proteome analysis of 179 MS patients and 42 non-MS controls. Among this study group, 11 unrelated MS patients and 60 independent, healthy controls were subjected to whole-genome SNP genotyping, and genome-wide associations were assessed. Pathway enrichment analyses of MS-associated SNPs and differentially-expressed proteins were conducted using the functional enrichment tool, PANOGA. Results. Nine shared pathways were detected between the genomic and proteomic datasets after merging and clustering the enriched pathways. Complement and coagulation cascade was the most significantly associated pathway (hsa04610, P = 6.96x10-30). Other pathways involved in neurological or immunological mechanisms included adherens junctions (hsa04520, P = 6.64 x 10-25), pathogenic Escherichia coli infection (hsa05130, P = 9.03 x 10-14), prion diseases (hsa05020, P = 5.13 x 10-13). Conclusion. We conclude that integrating multiple datasets of the same patients helps reducing false negative and positive results of genome-wide SNP associations and highlights the most prominent cellular players among the complex pathophysiological mechanisms

Prospective outcome analysis of multiple sclerosis cases reveals candidate prognostic cerebrospinal fluid markers

Background Predicting the long-term disability outcomes of multiple sclerosis (MS) cases is challenging. Objective We prospectively analysed our previous MS cohort with initial cerebrospinal fluid (CSF) proteomics data to reveal disability markers after 8.2±2.2 years of follow-up. Methods Patients with regular follow-up visits were assigned into two groups: those with an age-related MS severity (ARMSS) score ≥5 (unfavourable course group, N = 27) and ARMSS score Results CSF alpha-2-macroglobulin (P = 0.0015), apo-A1 (P = 0.0016), and haptoglobin (P = 0.0003) protein levels, as well as cerebral lesion load (>9 lesions) on magnetic resonance imaging, gait disturbance (P = 0.04), and bladder/bowel symptoms (P = 0.01) were significantly higher in the unfavourable course group than in the favourable course group. Optic nerve involvement evident on initial magnetic resonance imaging (P = 0.002) and optic neuritis (P = 0.01) were more frequent in the favourable course group. Conclusion The herein identified initial CSF protein levels, in addition to the clinical and radiological parameters at disease onset, have predictive value for long-term disability in MS cases