Zeitschrift für klinische und medizinische Genomik

Type 2 diabetes (T2D) results from combination of environmental factors and genetic determinants. Transcription factor 7-like 2 (TCF7L2) genes have been reported that it plays important role in T2D pathogenesis. In addition, TCF7L2 gene polymorphisms have been linked to T2D through many European populations. In the present study, we investigated TCF7L2 polymorphisms in healthy individuals and T2D patients and aimed to see whether TCF7L2 polymorphisms are associated with T2D in the Turkish population. We genotyped two SNPs of TCF7L2 gene, rs7903146 and rs12255372 in 100 healthy individuals and 100 patients. As a result of the genotype and allele distributions, we found that there were significantly associations between the TCF7L2 rs7903146 and risk of T2D (p=0.0172) in Turkish Population. However, there was no association for TCF7L2 rs12255372 (p=0.395) but GT genotype was higher in patient groups (p=0.0250). Similarly, our data shows that individuals who carry TCF7L2 rs7903146 polymorphism have significant risk of T2D in Turkish population.

This paper deals with stem cell boogies and longevity market on the DNA gene therapy business. In Dr. James Canton’s book, The Extreme Future, the author mentions several health cures and enhancement ideas that stemcell treatments may offer in twenty years: 1) New organs, including hearts and lungs; 2) New bone growth for legs, arms, and backs; 3) New sensory functions and optic nerves to restore eyesight; 4) New cancer treatments; 5) New nerves to heal muscles and to restore movement; 6) New cells to offset the aging brain. Since, James Watson and Francis Crick discovered and published the book The Double Helix (1968), DNA; the health sciences have had an incredible boom and growth. DNA is the basics of life’s inheritance, and most of the modern health innovations are due to its understanding. “Life-extension treatments, from genetic vaccines and designer DNA ‘surgery’ to smart drugs and neuro-medical devices, will augment health, improving intelligence, and maximizing beauty” [1].

A clear picture of what is ahead is also given also by James Martin a rocket scientist in his book: The Meaning of the 21st Century, on gene therapy or “genetically modified humans,” as well as shedding light on our other topic of “the magic of stem cells.” This report is written for Departmental Heads of the Institute of Public Health (IPH) in Albania, who are in position of developing future healthcare policies, and supporting development programs of “adult stem cells” and “genetic engineering” cures for population at large. The interested investors will be the healthcare insurance companies, public health officials, and tertiary hospital caregivers in the healthcare industry, which will join in a Public-Private-Partnership (PPP) to achieve the desired results to cure damaged tissues of the human body and heal genetically inherited disease by gene splicing and insertion, also known as transplanting genes.

Background: Lupus erythematosus (LE) includes a spectrum of auto immune disorders, involving whole body (systemic LE) in one end and is cutaneous limited LE on the other side. Cutaneous LE mainly diagnosed via clinical manifestations as well as histopathologic examination. According to different pathologic specifications, the aim of present study was to determine which histopathologic criterion is more accurate and practical in diagnosing cutaneous LE.

Material and Methods: The Samples which have been taken were from the patients with clinical manifestations of Cutaneous LE with pathologic confirmation. All patients had direct immuno fluorescent (DIF) samples that recorded. Histopathologic findings are categorized into three groups: group 1 contains epidermal changes, group 2 includes interface changes and group 3 contains dermal changes. Different histopathologic finding such as prevascular infiltration, follicular atrophy, follicular plaque, and basements membrane thickness and other changes, as well as DIF patterns, were recorded in designed questionnaires. Further analysis had been done with SPSS software version 22.

Results: Of 145 patients (61.4% female and 38.6% male) in 58.6% DLE was the first clinical diagnosis, 23% was the second and in subsequent 4.1%, 1.4% and 0.7% was third, fourth and fifth diagnosis respectively. In 11% of caeses DLE was not among clinical impressions. DIF was positive in 49%. As a whole, superficial perivascular and perifolicular infiltration were observed in 99% of the cases and was the commonest pathologic feature followed by basal vacuolization, peri follicular infiltration and epidermal atrophy. Other pathologic changes were observed with variable rates.

Discussion: By grouping histopathologic criterion, it seems that hyperkeratosis and thickening of Basement membrane may be major histologic criterion and peri vascular infiltration, peri follicular infiltration and eccrine gland infiltration, may be minor.

Introduction: We report the dermoscopic and pathologic features of the four patients with Bowen disease, an insitu squamous cell carcinoma, to assess the correlation of the pathologic-dermoscopic features of the Bowen disease.

Materials and Methods: Dermoscopic images of all cases including nine lesions of the four patients were obtained by means of microderm. The images were analyzed by two experienced observer for searching global and local dermoscopic features. Four of nine lesions were excised and submitted for histopathologic examination.

Results: The most frequently occurring dermoscopic features were found to be: glumerolar vessels (88.8%), gray to brown pigmentation (77.7%), scaling (55.5%), homogenous pigmentation (55.5%) and pigmented steak (22.2%). The histopathological evaluation of all cases revealed the dysmaturation of the keratinocytes, keratinocytic atypia and irregular psoriasiform acanthosis. In dermoscopic-histopathologic correlation, all lesions showed glomerular vessels in dermoscopy except one of the lesions.

Conclusion: Dermoscopy may be considered as a helpful diagnostic test for the bowen disease to rule out other differential diagnosis. The microscopic slide may not be completely representative of the dermoscopic features, therefore, serial sections could be ordered. Further study is needed to assess the specificity and sensitivity of the dermoscopic criteria in differentiating BD from other pigmented and nonpigmented skin tumors as well as from inflammatory skin disorders.

Pre-implantation Genetic Diagnosis (PGD) has historically been the subject of heated public controversy because it offers the ability for parents to select their future children genetically. This paper explores the ethical implications of PGD, and discusses the ethical issues associated with the use of PGD from the perspective of medical professionals, whose work involves contact with women or couples undergoing or who plan to undergo PGD and fertility treatment. Consequently, their knowledge, attitudes and views concerning PGD use are critical to allow us to understand the issues involved. Using in-depth interviews, eight medical professionals from three different medical institutions were interviewed. Interviews were recorded, transcribed and analysed using thematic analysis. The findings showed that the participants perceived PGD as an opportunity for couples in the ‘high risk’ groups to have children who are genetically healthy. However, due to low health literacy, misunderstanding of what PGD is capable of is always a problem, leading to negative perceptions of PGD that give rise to controversial ethical issues including the notion of ‘designer babies’ and eugenics. The study concludes by highlighted participants’ concern with regard to the lack of monitoring of PGD and the quality of the service providers.

The divorce rate rose steadily in recent years, becoming a significant social problem. Many studies showed that the divorce has negative impact on children, but there are many different interpretations of the consequences of this situation on children’s lives.

There is no doubt that children are being affected by the sudden change in their familial environment as well as by additional influences that accompany the divorce process. It is well recognized that the divorce process affects the mental state of the children, including development of behavioral problems, negative self-concept, social problems, and difficulties in relationships with the parents. Among these children there is a higher frequency of depression, violence, learning and social deterioration, and high risk for suicidal attempts. Research in recent years had shown that the divorce process apparently affects also the state of physical illness in children.

Based on clinical and empirical studies in recent years, for most children, the traditional visiting arrangements are out of date, unnecessarily restrictive, and do not meet the interests of the children themselves. There are many advantages for children in separation and divorce situations when the children’s living arrangements allow the caring fathers to be actively involved in the life of their children, when there are broad visiting arrangements or even shared custody arrangements.

In these situations, there is a significant reduction in the negative aspects of the divorce process and there is an objectively beneficial effect on children’s adjustment, which is also reflected from the experience of the children themselves.

We describe the situation in Israel and recommend the appropriate management in these cases according to our experience and recently studies.