Possibility Of Genetic Testing Research Articles

Diagnosis of hepatic nuclear factor1A monogenic diabetes mellitus (HNF1A-MODY) impacts antihyperglycemic treatment.

Monogenic mutations of the hepatocyte nuclear factor1 homeoboxA maturity onset diabetes of the young (HNF1A-MODY) is characterized by early onset, typically before the age of 25 years. Patients are often not clinically recognized; however, the identification of HNF1A-MODY patients is crucial because they require different antihyperglycemic medical treatment than patients with type1 or type 2diabetes mellitus. We describe two adult patients with monogenic diabetes, both identified as HNF1A-MODY, genetically c.815G>A, p.Arg272His and c675delC, p.Ser225Argfs*8, respectively. They were misdiagnosed as having type1 diabetes mellitus, and consequently, initiating insulin therapy led to hypoglycemia and unstable blood glucose control. Usually, sulfonylureas represent the basis of antidiabetic treatment in patients with HNF1A-MODY; however, all medical personnel involved in diabetes care should be aware of monogenic diabetes mellitus and the possibilities for genetic testing. The patients observed have shown the necessity of the identification and appropriate genetic diagnosis of HNF1A-MODY in order to discontinue insulin therapy and to initiate adjusted diabetes management.

The Search for genomic markers for coffee consumption

The turnaround of the millennium brought us lots of expectation in terms of world market globalization economy, planet environment preservation and energy resources to mention a few. However, one of the most important discoveries in the science ­ eld was the unveiling of the human genome. Since then, most of the attention has turned to understanding the function of many genes and genomic fragments and their relationship with human pathophysiology. Much has been accomplished so far, such as BRCA1 and BRCA2 markers for breast cancer; HOXB13 gene for prostate cancer; APOE ‑4 for Alzheimer’s disease and many others that lead to the possibility of genetic testing to predict the risk of developing the disease, if the mutant variant gene is expressed in the individual genome.Coe is the mostly widely consumed beverage worldwide with known health bene­ ts. e genomic approach to search for speci­ c regions in the human DNA that are highly expressed within the co ee consumers is also a recent phenomenon. Genome-wide association studies (GWAS) have identi­ ed a number of regions of interest associated with co ee consumption. A consortium actually was created with the participation of researchers from all over the world, in an e ort to accelerate these ­ ndings. e purpose is to understand the relationship between parts of the human DNA and the increased or decreased co ee use and its correlation with the prevention of a series of diseases as type-2 diabetes, cancers and neurodegenerative diseases that account for the majority of the chronic disorders that a ict our post-millennium population.

The second Genoa meeting on colorectal polyps "Recent Advances In Colorectal Polyps" Genoa 4/11/2014.

Ten years after the first meeting, Genoa hosted again an update on colorectal polyps. Gian Andrea Binda organized a extremely successful congress that took place in the elegant venue of Villa Quartara surrounded by a wonderful silent park. It provided a one-day comprehensive update of all the aspects of the latest innovations on colorectal polyps. The congress was opened by an interesting session on genetics and epidemiology. Over the past few years, the genes responsible for hereditary syndromes characterized by adenomatous and hamartomatous colorectal polyposis have been identified giving us the possibility of genetic testing in clinical practice. This helps clinicians in therapeutic decision-making and allows a tailored policy of surveillance of the patients’ relatives. A reliable test to screen asymptomatic individuals and to diagnose advanced adenomas and low-stage colorectal cancers is the key tool for minimizing mortality. Unfortunately, current testing strategies are suboptimal, but promising approaches using noninvasive genomic, transcriptomic, proteomic and metabolomic analysis of the biological samples have been proposed. New highlights from a breathomic approach concerning the identification of specific patterns of volatile organic compounds in exhaled breath were reported. The role that aspirin, metformin and phytoestrogens could play in primary prevention was also elucidated. Pathology and diagnosis were the topic of the next sessions. Histological criteria for risk assessment of malignant polyps include mainly grading, depth of penetration, lymphovascular invasion and tumor budding. Till now, colonoscopy has been the diagnostic gold standard. However, a significant number of small, flat and diminutive polyps are missed during examination decreasing the effectiveness of cancer prevention. In recent years, the adenoma detection rate has emerged as a quality assurance indicator. Several factors such as the quality of bowel preparation, the technique of examination and the new technologies improve colonoscopy results. Augmented endoscopy systems (magnification, surface dye, blue light mode, cap-assisted colonoscopy, etc.) can realistically improve diagnostic accuracy. The afternoon program was dedicated to therapeutic approaches and techniques. The lectures on endoscopic resection provided the opportunity to stress the pros and cons of the different techniques comparing the approaches of Eastern and Western countries. EMR is cheaper, less complex and less time-consuming, whereas ESD requires specialized experience with a longer learning curve, shows an higher risk of perforation but allows en bloc resection of difficult lesions. Excellent videos showed operative details for technically demanding resections and for the treatment of complications. In superficial rectal neoplasm, data suggest that fullthickness TEM achieves an higher rate of en bloc resection and R0 resection than endoscopic removal reducing significantly the need for subsequent major surgery. TAMIS is a promising new technique that allows partial and fullthickness resection of rectal lesions. Preliminary data suggest its feasibility, but further evaluation is required to assess surgical and oncologic results. Surgical treatment is sufficiently standardized in FAP but is still a matter of A. Amato Unit of Coloproctology, Hospital of Sanremo, Sanremo, Italy

Genetic Testing and Alzheimer’s Disease: Implications for Psychiatric-Mental Health Nursing

Alzheimer's disease (AD), the most common cause of irreversible dementia, continues to grow in prevalence as well as public health impact. Extensive research into the genetic etiology of AD has yielded knowledge of some genetic factors that are causative and other genetic factors that increase risk for disease. Consequently, the possibility of genetic testing in individuals with or at risk for AD is a question that nurses may be asked. Psychiatric-mental health (PMH) professionals are in key positions to influence the care of individuals who are considering the effect of genetic information on their health care decisions. Whether by working within interdisciplinary genetic counseling teams to provide direct specialty services or by developing skills to identify and refer individuals at risk for or concerned about their risk for AD, PMH nurses can play an important role in the health care of individuals and families experiencing AD.

Centres of Excellence Course in Pharmacogenetics, 25–28 June 2012

Pharmacogenetics, promising the end of ‘one size fits all’ drugs and of trial and error in pharmacotherapy, is often predicted to be one of the first clinical applications in the...

Neurofibromatosis type I (von Recklinghausen’s disease): A Report of Three Cases / Neurofibromatoza tip I (von Recklinghausenova bolest): prikaz tri slučaja

AbstractNeurofibromatosis type I (NF1) is an autosomal dominant, multisystemic disease that usually affects the skin, nervous system and bones. Diagnosis is made by matching at least two of the following 7 diagnostic criteria: six or more caféau- lait macules over 15 mm in diameter, two or more neurofibromas, axillary and/or inguinal freckles, optic glioma, two or more Lisch’s nodules (iris hamartoma), changes in the bones in the form of sphenoid dysplasia, thinning of the cortex of long bones and existence of neurofibromatosis in the first degree relatives. We report three patients, two men and a woman aged 18 to 33 years, in whom the first changes occurred at puberty, and there was no positive family history in any of them. All three patients had café-au-lait spots over 15 mm in diameter and numerous localized neurofibromas on the skin of the trunk and extremities that were histologically verified. In two patients, ophthalmic examinations recorded Lisch’s nodules in the iris. In one of the patients, MRI of the head, revealed presence of oval lesions with diameters of 10-15 mm, which may correspond to neurofibromas, and in the other patient fibrous dysplasia of the femur and tibia were observed. Psychological testing in one patient revealed IQ at the lower limits of average (IQ 68). After the diagnosis of neurofibromatosis type I, the patients were given advice about the disease and a plan for the monitoring and control of possible symptoms, and also the possibility of genetic testing during pregnancy. A multidisciplinary approach is required for diagnosing and monitoring of patients with neurofibromatosis type 1.

Sharing genetic risk with next generation: mutation-positive parents’ communication with their offspring in Lynch Syndrome

Identification of hereditary predisposition to cancer has limited significance if not followed by efficient cancer prevention. The responsibility of informing offspring about genetic risk often falls to the parents. We systematically investigated how parents with Lynch Syndrome share knowledge of genetic risk with their offspring, challenges in the communication process and wish for professional support. Of all known mutation carriers over age 40 (n = 337) in 102 Finnish Lynch Syndrome families, 86% completed a self-reported questionnaire; 248 of them (86%) had children. Of the 248 parents, 87% reported disclosure and 13% nondisclosure. Reasons for nondisclosure were mainly the young age of offspring, socially distant relationships, or feeling of difficulty in discussing the topic. Men reported significantly more often disclosure with a support person (spouse etc.) (P < 0.001). The most difficult communication aspect was discussing children's cancer risk. Of the 191 firstborn adult children informed, 69% had taken the predictive genetic test. Every third parent suggested that health professionals should be involved in passing on the information and that a family appointment at the genetic clinic should be organized at the time of disclosure. Nearly all parents had informed their adult offspring about the genetic risk and possibility of genetic testing, but almost one-third were unsure of how their offspring had used the information. The challenge is to improve the communication processes, so that all offspring would get the information important for their health care, and parents would get the professional support desired at disclosure.

Information, understanding and the benign order of everyday life in genetic counselling

Genetic counselling as a medical encounter is characterised by the centrality of the provision of information. Much of the counselling session is filled by information delivery about the symptoms, the prognosis and the transmission of the disease, the risks involved and the possibilities for genetic testing. The present paper is a study of how information is delivered in actual genetic counselling sessions. The data consist of 10 video-recorded sessions from a genetics clinic in Finland, and the methodology is based on conversation analysis. The paper focuses on the doctor's talk in a specific interactional context, the slot after a candidate understanding by a client. The analysis shows that the doctors have two basic orientations: they work towards securing correct understanding and they display being attuned to what the information means to the clients, particularly to whether it is positive or negative to them. The latter orientation is related to what has been called 'the benign order of everyday life' (Maynard 2003). The findings in the paper offer a possibility for a discussion about the principles and practices of genetic counselling.