REPAIRtoire—a database of DNA repair pathways

REPAIRtoire is the first comprehensive database resource for systems biology of DNA damage and repair. The database collects and organizes the following types of information: (i) DNA damage linked to environmental mutagenic and cytotoxic agents, (ii) pathways comprising individual processes and enzymatic reactions involved in the removal of damage, (iii) proteins participating in DNA repair and (iv) diseases correlated with mutations in genes encoding DNA repair proteins. REPAIRtoire provides also links to publications and external databases. REPAIRtoire contains information about eight main DNA damage checkpoint, repair and tolerance pathways: DNA damage signaling, direct reversal repair, base excision repair, nucleotide excision repair, mismatch repair, homologous recombination repair, nonhomologous end-joining and translesion synthesis. The pathway/protein dataset is currently limited to three model organisms: Escherichia coli, Saccharomyces cerevisiae and Homo sapiens. The DNA repair and tolerance pathways are represented as graphs and in tabular form with descriptions of each repair step and corresponding proteins, and individual entries are cross-referenced to supporting literature and primary databases. REPAIRtoire can be queried by the name of pathway, protein, enzymatic complex, damage and disease. In addition, a tool for drawing custom DNA–protein complexes is available online. REPAIRtoire is freely available and can be accessed at http://repairtoire.genesilico.pl/

Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations

Additional file 1. Complementary data on primer sequences, SKI amplification and survival analyses

Three interesting cases of syndrome of inappropriate antidiuretic hormone secretion

The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is an etiologically-diverse pathological condition resulting from the elevation in both ectopic and autonomic secretion of the antidiuretic hormone (ADH) by neoplastic tissue; excessive stimulation of the hypothalamic-pituitary axis, e.g. in pulmonary diseases, central nervous system (CNS) abnormalities, endocrine glands dysfunction or due to the use of some medications; intensification of renal ADH action by certain medications and action of substances chemically-related to vasopressin. The clinical characteristics of the syndrome are comprised of the presence of inadequately concentrated urine, hyponatremia, and hypo-osmolal blood serum, as well as weight gain. To show the variety of its causes and courses the article presents three cases of patients diagnosed with SIADH in the Department of Internal Medicine. In each of them the syndrome of inappropriate antidiuretic hormone secretion manifested in clinical laboratory tests in the form of hyponatremia

‘TB or not TB?’ Problems of differential diagnosis of cutaneous mycobacteriosis and tuberculosis - A Case Study and interdisciplinary discussion

The diagnosis of cutaneous tuberculosis poses a serious challenge due to many skin diseases of different etiology resembling the lesions caused by the TB (tuberculosis) bacillus, and difficulties in confirming the disease. The presented case concerns skin lesions in a hobby aquarist stung in the finger of the left hand by a fish. The resulting inflammatory infiltration was to be cutaneous tuberculosis or mycobacteriosis caused by MOTT (Mycobacterium other than tuberculosis). Laboratory, pathomorphologic, genetic and microbiologic tests of samples obtained from the patient, fish and water in the aquarium gave ambiguous results. A multidisciplinary discussion is presented on the difficulties in the differential diagnosis, problems with a clear interpretation of the results of various conducted tests, and possible ways of transmission of the infection, relevant to the described example