Genetic testing and insurance. The Ad Hoc Committee on Genetic Testing/Insurance Issues.

The rapid expansion of opportunities for genetic testing has been accompanied by complex questions about the appropriate relationships between providers, patients, and insurers. Some of these questions involve large public-policy decisions, such as whether the government should guarantee access to health care for all citizens. Universal access to health care, without regard to past, present, or future risk of disease, could eliminate risk-oriented underwriting in health-care coverage. A positive response to that question will ameliorate other problems. Until universal access is reality, genetic testing and genetic diagnosis will raise important issues for the practicing geneticist. How much does a client need to know about insurance implications before consenting to a genetic test? Should patients be counseled to purchase insurance before being tested? Should genetic information be excluded from medical records before their release to insurance companies for routine reimbursements or underwriting? What are the ethical and legal responsibilities of the geneticist?     

Demographic Data of a Population of Insured Swedish Dogs Measured in a Questionnaire Study

Dogs, in the age range 1–3 years old, were randomly selected from the largest animal insurance database in Sweden for inclusion in the study. The study was performed in 1997, and a total of 680 dog owners were selected for the study. A total of 461 dog owners completed the survey, at an overall response rate of 68%. Data was compared to a recent gallup performed on a sample of all dogs in Sweden. The demographic statistics of the insured dog population were in many aspects similar to the total dog population of Sweden. Typical for both insured dogs and the total population of dogs were a low proportion of neutered dogs, that many dogs were bought at an early age, that many dogs were in contact with a "breeder" when sold, and a similar profile of health status. However, "dog breeders" seemed to have their dogs insured to a higher extent than the general dog owner. It was concluded that as the populations were alike in many respects, it is reasonable to use the insurance database for epidemiological studies on diet and exercise in Swedish dogs.     

Chagas disease in dogs from endemic areas of Costa Rica

Dogs with the presumptive diagnosis of Chagas disease are commonly sent to our School of Veterinary Medicine by independent veterinarians. This prompted us to evaluate the prevalence of canine trypanosomiasis in some villages of the Central Valley of Costa Rica. A total of 54 dogs (21 males and 33 females) from five rural villages, with ages between 3 months and 10 years old, were bled and submitted to three serological tests: indirect immunofluorescence, indirect hemagglutination and ELISA. Among all animals, 15 (27.7%) revealed antibodies (6 pure bred and 9 mongrels) and in 3 of them the parasite was also demonstrated by xenodiagnosis. All positive animals except 1, and 9 negative animals (control group) were examined by X-rays and electrocardiography, revealing different degrees of cardiomegaly and ECG alteration, consistent with Chagas disease pathology in one dog (SA-11) of the infected ones. Examination of 50 inhabitants living in the houses where dogs and Triatoma dimidiata were found, yielded negative serological reactions. This was assumed to support the hypothesis that dogs are commonly infected by the oral route, a more effective means of infection compared with the vector transmission mechanism that occurs in humans.     

Live sequence charts to model medical information

ABSTRACT: BACKGROUND: Medical records accumulate data concerning patient health and the natural history of disease progression. However, methods to mine information systematically in a form other than an electronic health record are not yet available. The purpose of this study was to develop an object modeling technique as a first step towards a formal database of medical records. METHOD: Live Sequence Charts (LSC) were used to formalize the narrative text obtained during a patient interview. LSCs utilize a visual scenario-based programming language to build object models. LSC extends the classical language of UML message sequence charts (MSC), predominantly through addition of modalities and providing executable semantics. Interobject scenarios were defined to specify natural history event interactions and different scenarios in the narrative text. Result A simulated medical record was specified into LSC formalism by translating the text into an object model that comprised a set of entities and events. The entities described the participating components (i.e., doctor, patient and record) and the events described the interactions between elements. A conceptual model is presented to illustrate the approach. An object model was generated from data extracted from an actual new patient interview, where the individual was eventually diagnosed as suffering from Chronic Fatigue Syndrome (CFS). This yielded a preliminary formal designated vocabulary for CFS development that provided a basis for future formalism of these records. CONCLUSIONS: Translation of medical records into object models created the basis for a formal database of the patient narrative that temporally depicts the events preceding disease, the diagnosis and treatment approach. The LSCs object model of the medical narrative provided an intuitive, visual representation of the natural history of the patient's disease.     

Does toxoplasmosis cause DNA damage? An evaluation in isogenic mice under normal diet or dietary restriction

Toxoplasmosis is an anthropozoonotic widespread disease, caused by the coccidian protozoan parasite Toxoplasma gondii. Since there are no data regarding the genotoxicity of the parasite in vivo, this study was designed to evaluate the genotoxic potential of the toxoplasmosis on isogenic mice with normal diet or under dietary restriction and submitted to a treatment with sulfonamide (375 microg/kg per day). DNA damage was assessed in peripheral blood, liver and brain cells using the comet assay (tail moment). The results for leucocytes showed increases in the mean tail moment in mice under dietary restriction; in infected mice under normal diet; in infected, sulfonamide-treated mice under normal diet; in infected mice under dietary restriction and in infected sulfonamide-treated mice under dietary restriction. In liver and brain cells, no statistically significant difference was observed for the tail moment. These results indicated that dietary restriction and T. gondii were able to induce DNA damage in peripheral blood cells, as detected by the comet assay.     

Active approach to recognising asthma in general practice.

The general practice medical records of 214 children born in 1977 were scrutinised for a diagnosis of asthma. In 18 (8%) of these a diagnosis of asthma had been entered. Using a scoring system based on the medical record a further group of children who were thought likely to have undiagnosed asthma was exercise tested. Twelve children (6%) had demonstrable exercise induced asthma. In addition, seven children (3%) had both frequent respiratory symptoms and borderline exercise test results, indicating that they too had clinically important airways obstruction. As expected, histories of atopic eczema, nocturnal cough, persistent cough (more than one week), and wheezing appeared often in the medical records of the children with asthma. In combinations these diagnostic clues were more than 50% predictive of asthma. A more active approach in general practice to the diagnosis of asthma in children is both necessary and possible.     

河南淇县宋庄东周墓地人骨稳定同位素分析——东周贵族与殉人食谱初探

淇县宋庄东周墓地出土贵族和殉人骨骼遗存的稳定同位素分析是国内首例针对东周社会分化背景下不同社会阶层先民开展的食谱研究.稳定碳氮同位素分析结果表明,贵族阶层在主粮和肉食方面与殉人群体明显不同.贵族几乎完全以粟为主粮,食物中肉类含量很高;而殉人阶层整体食肉水平较低,主粮的内部差异显著,大部分个体都不同程度的食用了当时不受青...     

Seasonal and annual variation in the diet of the raccoon dogNyctereutes procyonoides in northern Belarus: the role of habitat type and family group

To study variation in the diet of the raccoon dogNyctereutes procyonoides Gray, 1834 in northern Belarus, 3299 scats were sampled from 18 localities differing in habitat quality. In one of the 18 localities, the dietary study was conducted for nine years. The data obtained was analysed according to seasonality, between-year difference, family specificity and habitat influence. In northern Belarus, the raccoon dog was found to be a generalist predator with omnivorous and opportunistic feeding habits. Their diet was highly variable, but a common trait was specialization on carrion in winter and on berries in late summer. Beside carrion and berries, the other seasonally important food items were frogs, insects, plant matter, mammals, and birds. The diet varied between seasons and habitats. In the warm season, habitat factors, such as type of soil (clay or sand), proportion of lakes and open grassy marshes, seemingly determine the food supply for raccoon dogs, and thereby influence the diet of individuals. The obtained results on dietary variation of raccoon dogs can be used in detailed analysis of the impact of this introduced species on native fauna and its role in functioning of vertebrate communities.     

Natural exposure of Wisconsin dogs to the Lyme disease spirochete (Borrelia burgdorferi)

Lyme disease, a tick-borne disease caused by Borrelia burgdorferi, has been described recently in dogs. In a serologic survey of specimens obtained from March to September 1984, 53% of 380 dogs from two USDA licensed vendors in Wisconsin were positive for indirect immunofluorescent antibodies to B. burgdorferi at a serum dilution of 1:64 or greater. B. burgdorferi was cultured from the blood of 8/111 dogs. These findings suggest that exposure to this spirochete is common in endemic areas and that this zoonotic disease is of importance to veterinarians and researchers.     

Weight management in obese pets: the tailoring concept and how it can improve results

Obesity is now recognised as the most important medical disease in pets worldwide. All current strategies for weight management involve dietary energy restriction with a purpose-formulated diet. Whilst current weight management regimes can be successful, outcomes are often disappointing with the rate of weight loss progressively slowing down as time goes on. Success is most challenging for the most obese dogs and cats that are more likely to discontinue the programme before reaching target weight. To improve outcomes, clinicians must focus carefully on better tailoring programmes, paying particular to setting an appropriate target weight so as to maximise the benefits for the individual. In this opinionated review, the author will discuss findings from recent clinical research studies examining weight management in obese dogs and cats. A strategy for tailoring weight management targets will then be discussed, illustrated with case examples.

     

Reasons for failing to confirm a diagnosis in samples of sheep origin,submitted for laboratory examinations

In Great Britain changes in the proportion of samples submitted to diagnostic laboratories, for which no diagnosis is confirmed, are monitored as a possible indicator of new or emerging diseases. Herewith, perceived reasons for failing to reach a diagnosis were provided for the year 2008. No diagnosis could be confirmed in 39% of these; however, if those subjected to limited testing were excluded, then that proportion was 20%. Most frequently recorded reasons that no diagnosis was confirmed were “incomplete sample range submitted” (8% of total samples submitted), “full diagnostic package not requested” (6%), “post-mortem material required but unavailable” (4%) and “inconclusive test results” (2%). No reason could be identified in 8% of samples submitted. Selection of these samples for further analysis may enhance surveillance for emerging/re-emerging diseases.     

The effects of anthrax on endangered African wild dogs (Lycaon pictus)

African wild dogs ( Lycaon pictus ) are large, social canids formerly found throughout sub-Saharan Africa. Wild dogs are now endangered; only six nations hold populations larger than 100 individuals. Considerable evidence suggests that disease plays a central role in the regulation of some wild dog populations. In particular, it has been suggested that epizootics of rabies, canine distemper and anthrax can have strong local effects on wild dog numbers. Resolution of the regulatory importance of these diseases has been hampered by lack of data from wild populations. Here we report on an outbreak of anthrax among wild dogs in the Selous Game Reserve in southern Tanzania, describing clinical signs and diagnosis, measuring mortality, and testing for effects on hunting success and movements. Only one of five packs under study was affected. Immediate mortality was mild, with none of 18 adults (0%) and four of 24 pups (17%) dying. Mortality was significantly higher among puppies (<1 year old) than among adults. Mortality of individuals that showed signs of disease but did not die immediately was not significantly elevated over the following six months. The hunting success and movement patterns of the pack were not affected by the outbreak. Collectively, these data suggest that African wild dogs possess a degree of resistance to anthrax.     

A picture of tuberculosis in young Portuguese people in the early 20th century: a multidisciplinary study of the skeletal and historical evidence

The aim of this study was to examine the evidence, and consider the differential diagnosis, for tuberculosis (TB) in juvenile individuals from early 20th century documented skeletons. There are 66 male and female juvenile individuals in the Coimbra Identified Skeletal Collection (CISC) with an age at death ranging from 7-21 years. The individuals died between 1904-1936 in different areas of Coimbra, Portugal. Eighteen of these individuals died from TB affecting different parts of the body. Thirteen (72.2%) showed skeletal lesions that may be related to this infection. Of the 48 individuals with a non-tuberculous cause of death, only 2 (4.2%) had skeletal changes that could be attributed to TB. The distribution of skeletal manifestations caused by the types of TB under study, based on macroscopic and radiological findings, is described and discussed. In addition, the medical records from 6 tuberculous individuals who died in Coimbra University Hospital (CUH) were analysed, and the information, including their diet and access to treatment, is presented. This work, based on data arising before antibiotics became available for treatment, can contribute to the future diagnosis of TB in non-documented skeletal material, and will facilitate a more reliable diagnosis of TB in juvenile individuals.     

Evaluation of a spontaneous canine model of immunoglobulin E-mediated food hypersensitivity: dynamic changes in serum and fecal allergen-specific immunoglobulin E values relative to dietary change

The purpose of the pilot study reported here was to evaluate serum and fecal total and allergen-specific immunoglobulin E (IgE) responses to dietary change in five Maltese x beagle dogs with suspected food hypersensitivity, compared with those of five clinically normal dogs. Clinical parameters (pruritus, otitis, and diarrhea) improved in the Maltese x beagle dogs during feeding of a novel diet, and signs were exacerbated by oral allergen provocation. Relative concentrations of serum and fecal wheat-, corn-, and milk-specific IgE were determined by use of an ELISA. The onset of clinical signs of disease was accompanied by an increase in serum allergen-specific IgE concentrations. In contrast, changes in clinical signs of disease or allergen-specific IgE values were not seen in the control group undergoing the same regimen. Total serum IgE concentration was measured by use of the ELISA, and comparison with known quantities of a monoclonal IgE allowed absolute values to be reported. Values were high in the Maltese x beagle colony (7 to 34 microg/ml), compared with those in the control dogs (0.7 to 6 microg/ml). Total serum and total fecal IgE concentrations did not change in either group during the study. Although allergen-specific IgE was detected in the feces of both groups, significant interassay variability made interpretation of the results difficult. The authors concluded that these Maltese x beagle dogs satisfied the currently recognized clinical criteria for the diagnosis of canine food hypersensitivity. Furthermore, the clinical and serologic responses seen in these dogs in response to oral allergen provocation suggest that this may be a useful model for the study of spontaneous food hypersensitivity.     

Intradermal injection of Hsp60 induces cytokine responses in canine atopic and healthy skin

The purpose of this study was to investigate the immunoregulatory potential of Hsp60 in the skin of dogs with atopic dermatitis. Three dogs with chronic atopic dermatitis and four healthy dogs were injected intradermally with Hsp60 and phosphate-buffered saline. Biopsies were taken before testing from non-injected control skin, lesional and non-lesional atopic skin, and 48 and 72 h after injection. Analysis of cytokine messenger RNA was performed using quantitative real-time polymerase chain reaction. Forty-eight hours after Hsp60 injection, a rise in interleukin (IL)-10 was found (P = 0.034) with the highest expression levels in non-lesional atopic and control skin. A rise of transforming growth factor beta (P = 0.015) and IL-12p40 (P = 0.017) was noticed 72 h after Hsp60 injection in control skin. No significant differences were observed for the expression of IL-4, IL-12p35, and interferon gamma. The results indicate that Hsp60 is able to induce cytokines of a regulatory and Th1 phenotype in the skin. Furthermore, this study seems to provide a first indication of deficient Hsp60 response in atopic dermatitis affected skin.     

HGBASE: a database of SNPs and other variations in and around human genes

Human genome polymorphism is expected to play a key role in defining the etiologic basis of phenotypic differences between individuals in aspects such as drug responses and common disease predisposition. Relevant functional DNA changes will probably be located in or near to transcribed sequences, and include many single nucleotide polymorphisms. To aid the future analysis of such genome variation, HGBASE (Human Genic Bi-Allelic SEquences) was constructed as a means to gather human gene-linked polymorphisms from all possible public sources, and show these as a non-redundant set of records in a standardized and user-friendly database endowed with text and sequence based search facilities. After 1 year of presence on the WWW, the HGBASE project has compiled data for over 22 000 records, and this number continues to triple every 6-12 months with data harvested or submitted from all major public genome databases and published literature from the previous decade. Extensive annotation enhancement, internal consistency checking and manual review of every record is undertaken to address potential errors and deficiencies sometimes present in the original source data. The fully polished and comprehensive database is made freely available to all at http://hgbase.cgr.ki.se     

Nutritional status, genetic susceptibility, and insulin resistance--important precedents to atherosclerosis

Atherosclerosis is a progressive disease that starts early in life and is manifested clinically as coronary artery disease (CAD), cerebrovascular disease, or peripheral artery disease. CAD remains the leading cause of morbidity and mortality in Western society despite the great advances made in understanding its underlying pathophysiology. The key risk factors associated with CAD include hypercholesterolemia, hypertension, poor diet, obesity, age, male gender, smoking, and physical inactivity. Genetics also play an important role that may interact with environmental factors, including diet, nutritional status, and physiological parameters. Furthermore, certain chronic inflammatory conditions also predispose to the development of CAD. The spiraling increase in obesity rates worldwide has made it more pertinent than ever before to understand the metabolic perturbations that link over nutrition to enhanced cardiovascular risk. Great breakthroughs have been made at the pharmacological level to manage CAD; statins and aspirin have revolutionized treatment of CAD and prolonged lifespan. Nonetheless, lifestyle intervention prior to clinical presentation of CAD symptoms would negate/delay the need for chronic pharmacotherapy in at-risk individuals which in turn would relieve healthcare systems of a costly burden. Throughout this review, we debate the relative impact of nutrition versus genetics in driving CAD. We will investigate how overnutrition affects adipose tissue biology and drives IR and will discuss the subsequent implications for the cardiovascular system. Furthermore, we will discuss how lifestyle interventions including diet modification and weight loss can improve both IR and metabolic dyslipidemia that is associated with obesity. We will conclude by delving into the concept that nutritional status interacts with genetic susceptibility, such that perhaps a more personalized nutrition approach may be more effective in determining diet-related risk as well as response to nutritional interventions.     

Relationship between serum high sensitivity C-reactive protein with angiographic severity of coronary artery disease and traditional cardiovascular risk factors

Serum high-sensitivity C-reactive protein (hs-CRP) is predictive of coronary artery disease (CAD). The aim of this study was to examine the possible association of hs-CRP with presence and severity of CAD and traditional CAD risk factors. This case-control study was carried out on 2,346 individuals from September 2011 to May 2013. Of these 1,187 had evidence of coronary disease, and were subject to coronary angiography, and the remainder were healthy controls (n = 1,159). Characteristics were determined using standard laboratory techniques and serum Hs-CRP levels were estimated using enzyme-linked immunosorbent assay (ELISA) kits, and severity of CAD was assessed according to the score of obstruction in coronary artery. Serum hs-CRP levels were higher in those with severe coronary disease, who had stenosis ≥ 50% stenosis of at least one coronary artery (all p < 0.001 vs. individuals in healthy control), and correlated significantly with the score for coronary artery disease (all p < 0.01). After adjustment for conventional risk factors, regression analysis revealed that smoking habits, fasting blood glucose, total cholesterol, high-density lipoprotein, hs-CRP, blood pressure, anxiety, dietary intake of vitamin E, and cholesterol remained as independent determinants for angiographic severity of CAD. The area under the receiving operating characteristic (ROC) curve for serum hs-CRP was 0.869 (CI 95% 0.721–0.872, p < 0.001). The optimal values for the cut-off point was a serum hs-CRP of 2.78 mg/l (sensitivity 80.20%, specificity 85%) to predict severity of CAD. Increased serum hs-CRP levels are significantly associated with angiographic severity of CAD, suggesting its value as a biomarkers for predicting CAD.     

Evaluation of a decision support system in a medical environment

This paper describes the impact of a decision support system on the quality of recorded diagnoses and the completeness of medical records. The assumption is that for quality assessment purposes enough data have to be recorded in an electronic medical record so that diagnostic decisions can be justified. The hypotheses were tested that active decision support will lead to better quality recorded diagnoses and more complete medical records. Three groups of ten GPs were presented with 10 cases each. The GPs had to enter the data about these cases in a GP information system. One group of GPs was not supported. The second group was presented with the ICHPPC-II-Defined criteria that had to be fulfilled when a diagnosis was entered. In a third group, the GPs were asked those data that were needed to justify an entered diagnosis (active support). It could be shown that the last group of GPs entered better quality diagnoses than the other two groups. These latter groups also entered so little data that most of their diagnoses could not be justified. It is concluded from the study that only active decision support will lead to better diagnoses and a more complete medical record that can be used for quality assessment.     

Thelazia callipaeda in Slovakia – From sporadic cases to endemic areas

Spirurid nematode Thelazia callipaeda, transmitted by the fruit fly Phortica variegata, is a causative agent of an ocular parasitic disease called also canine thelaziosis. Dogs, cats, and wild canids are considered the primary definitive hosts for the parasite, but humans may also serve as aberrant definitive hosts. For long decades the geographic range of T. callipaeda was strictly limited to the territory of Asia, but after the year 2000, the parasite began to spread rapidly through Europe. The first autochthonous infections of dogs and foxes in Slovakia were recorded in 2016. In the present study, the results of a whole-area surveillance for canine thelaziosis are reported. Altogether, 142 cases of infection caused by T. callipaeda were diagnosed by veterinarians in dogs between 2016 and the first quarter of 2021, and two cases of feline thelaziosis were recorded. The majority of the dogs showed mild ocular signs manifested by conjunctivitis; 8.5% of them suffered from more serious mucopurulent discharge, and in two dogs corneal ulceration was recorded. The screening revealed increasing trends in the occurrence of canine thelaziosis from both a temporal and spatial point of view and unambiguously confirms the endemic status of T. callipaeda in Slovakia with the prospect of its further expansion.