Architectural Design Decision Documentation through Reuse of Design Patterns

While design decisions on the application of architectural design patterns involve complex trade-offs between functionality and quality properties, such decisions are often spontaneous, and documentation of decisions and trace links to related artefacts is usually insufficient. The approach proposed in this thesis provides a support to overcome these problems. It combines support for evaluation of design pattern application, and semi-automated documentation of decisions and trace links

Architectural Design Decision Documentation through Reuse of Design Patterns

The ADMD3 approach presented in this book enchances the architectural design documentation of decision via reuse of design patterns. It combines the support for evaluation of pattern application, semi-automated documentation of decision rationale and trace links. The approach is based on a new kind of design pattern catalogue, whereby usual pattern descriptions are captured together with question annotations to the patterns and information on architectural structure of patterns

Gastric Cancer with Liver Metastasis (GCLM) and the Importance of Dormant Cancer Stem Cells

Surgical treatment of gastric cancer with liver metastasis (GCLM) is even more interested for oncologists. Liver resection or RFA (radiofrequency ablation) is not commonly indicated in gastric cancer with liver metastasis (GCLM). There is no direct marker defining the degree of biological aggressiveness of the tumor (indicating or contraindicating the surgical treatment), therefore we are left to rely on indirect prognostic factors: 1. cancerous invasion in the gastric wall serosa; 2. the presence of three and more liver metastases; 3. the size of metastasis exceeding 50 mm. Clarification of the nature of biological behavior of gastric cancer is a turning point of this treatment. Small light in explanation of the above problem is cancer stem cells (CSCs) theory. This theory proposes that CSCs serve not only as the basis for the development and progression of tumors, but also as the primary reason for tumor recurrence and metastasis. A better understanding of CSCs’ contribution to clinical tumor dormancy and metastasis will provide new therapeutic revenues to eradicate metastatic tumors and significantly reduce the mortality of cancer patients

Operation states analysis of the series-parallel resonant converter working above resonance frequency

Operation states analysis of a series-parallel converter working above resonance frequency is described in the paper. Principal equations are derived for individual operation states. On the basis of them the diagrams are made out. The diagrams give the complex image of the converter behaviour for individual circuit parameters. The waveforms may be utilised at designing the inverter individual parts

About a New Palpation Sign in the Diagnosis of Acute Appendicitis in Children and Women of Childbearing Age

Acute appendicitis (AA) is defined as nonspecific bacterial inflammation of the appendix vermiformis and is the most common acute abdominal condition requiring surgical intervention. The clinical picture of atypical forms of AA (children, women of childbearing age) is often insidious with its unpredictable onset and course. The diagnosis is particularly problematic. The new palpation sign consists of two reflex arcs. The visceral reflex arc ensures the diagnosis of an early stage of acute appendicitis, on the other hand, the somatic reflex arc points to the late stage of acute appendicitis. Due to the technical simplicity of the new palpation sign and the positioning of the patient during the examination, it is effective in a restless and distrustful child, as well as in women of childbearing age in differentiating AA from a gynecological disease

Identification of a novel RPGR mutation associated with retinitis pigmentosa and primary ciliary dyskinesia in a Slovak family: a case report

BackgroundThe mutations in the RPGR (retinitis pigmentosa GTPase regulator) gene are the most common cause of X-linked retinitis pigmentosa (XLRP), a rare genetic disorder affecting the photoreceptor cells in the retina. Several reported cases identified this gene as a genetic link between retinitis pigmentosa (RP) and primary ciliary dyskinesia (PCD), characterised by impaired ciliary function predominantly in the respiratory tract. Since different mutations in the same gene can result in various clinical manifestations, it is important to describe a correlation between the gene variant and the observed phenotype.MethodsTwo young brothers from a non-consanguineous Slovak family with diagnosed retinal dystrophy and recurrent respiratory infections were examined. Suspected PCD was diagnosed based on a PICADAR questionnaire, nasal nitric oxide analysis, transmission electron microscopy, high-speed video microscopy analysis, and genetic testing.ResultsWe identified a novel frameshift RPGR mutation NM_001034853: c.309_310insA, p.Glu104Argfs*12, resulting in a complex X-linked phenotype combining PCD and RP. In our patients, this mutation was associated with normal ultrastructure of respiratory cilia, reduced ciliary epithelium, more aciliary respiratory epithelium, shorter cilia, and uncoordinated beating with a frequency at a lower limit of normal beating, explaining the clinical manifestation of PCD in our patients.ConclusionThe identified novel pathogenic mutation in the RPGR gene expands the spectrum of genetic variants associated with the X-linked PCD phenotype overlapping with RP, highlighting the diversity of mutations contributing to the disorder. The described genotype–phenotype correlation can be useful in clinical practice to recognise a broader spectrum of PCD phenotypes as well as for future research focused on the genetic basis of PCD, gene interactions, the pathways implicated in PCD pathogenesis, and the role of RPGR protein for the proper functioning of cilia in various tissues throughout the body