Identification of Lynch syndrome risk variants in the Romanian population.

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadTwo familial forms of colorectal cancer (CRC), Lynch syndrome (LS) and familial adenomatous polyposis (FAP), are caused by rare mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the genes APC and MUTYH, respectively. No information is available on the presence of high-risk CRC mutations in the Romanian population. We performed whole-genome sequencing of 61 Romanian CRC cases with a family history of cancer and/or early onset of disease, focusing the analysis on candidate variants in the LS and FAP genes. The frequencies of all candidate variants were assessed in a cohort of 688 CRC cases and 4567 controls. Immunohistochemical (IHC) staining for MLH1, MSH2, MSH6, and PMS2 was performed on tumour tissue. We identified 11 candidate variants in 11 cases; six variants in MLH1, one in MSH6, one in PMS2, and three in APC. Combining information on the predicted impact of the variants on the proteins, IHC results and previous reports, we found three novel pathogenic variants (MLH1:p.Lys84ThrfsTer4, MLH1:p.Ala586CysfsTer7, PMS2:p.Arg211ThrfsTer38), and two novel variants that are unlikely to be pathogenic. Also, we confirmed three previously published pathogenic LS variants and suggest to reclassify a previously reported variant of uncertain significance to pathogenic (MLH1:c.1559-1G>C).European Union EE

Frequencies of Negative Cultures in Clients Treated with Antibiotics for Suspected Chlamydia or Gonorrhea

Objective. This descriptive study was designed to determine the percentages of negative cultures among all clients age 18 years and older presumptively treated with antibiotics for suspected chlamydia and/or gonorrhea infections according to the guidelines of the US Centers for Disease Control (CDC) and Prevention in the Sexually Transmitted Disease (STD) Clinic of the Palm Beach County Health Department (PBCHD). Background. At present it remains unclear what proportion of patients treated for chlamydial and/or gonococcal infections with antibiotics presumptive treatment in the PBCHDSTD clinic have negative cultures. By determining the extent of negative cultures in people treated by antibiotics for those diseases, we can recommend directions of further search for possible better testing and treatment strategies. Methods. Clinic logs were reviewed for a case series of all 1209 clients treated from November 1, 2007 to October 31, 2008. Culture results were retrieved from Department of Health’s Health Management System. Results. Of the 1209, 556 (46%) were treated for chlamydia, 30 (2.6%) for gonorrhea, and 623 (51.5%) for both. The frequencies of negative cultures were 68% overall, 70.9% for chlamydia, 86.6% for gonorrhea, and 65.2% for both. Conclusions. These descriptive data indicate that implementation of the CDC guidelines by the PBCHDSTD Clinic results in treatment of a large majority of clients with negative cultures for chlamydia, gonorrhea, or both. They also suggest the possible need to develop treatment algorithms to maximize treatment of clients with positive cultures and minimize treatment of clients with negative cultures. Grants. PBCHD supported

Physician Views on Physical Activity and its Impacts on their Patients’ Physical Fitness Level

Objective. This study was conducted to determine if physicians appreciate the importance of physical activity and if so encourage their patients to lead physically active lives. Background. Physical exercise in combination with routine medical exams is important 30 in maintaining a healthy living. Most Americans get regularly visits to their physicians but few however participate in physical exercises hence increasing their risk factors for cardiovascular diseases. The U.S Preventive Services Task Force has recommended that primary care physicians counsel their patients about the benefits of physical activity. Methods. For this study an anonymous survey was distributed to and completed by private practice physicians in selected area of Metro Atlanta and within the State of Georgia. Results. Pending. Conclusion. Our hypothesis is that physicians who appreciate the importance of physical activity are more likely to encourage their patients to incorporate physical activity into their daily lives as part of a healthy regimen. Grants. Not funded

Testing if Parents are Making Healthy Nutritional Choices for Their Infants and Toddlers

Objective. This study was conducted to determine if parents of infants and toddlers were making healthy nutritional choices and if they are aware of the unhealthy ones. Background. Although levels of overweight and obesity among adults in the United States have reached epidemic proportions, concerns about overweight among children have only recently garnered the attention of public health researchers. The purpose of this study is to test parent’s awareness of what a nutritional healthy choice is. Methods. For this study an anonymous questionnaire was given out to mothers of infants and/or toddlers. The questionnaire was testing the mother’s knowledge about certain nutritional terms that are used to market “healthy” choices for children such as “Organic” and “sugar free”. Results. This study showed that mothers who chose to exclusively breastfeed and use homemade of the first introduction to solid food for their toddlers, make healthier nutritional choices then the mothers who don’t breastfeed. Yet, this study also showed that many mothers thought that “organic” and “sugar free” automatically means “Healthy” which is not true. Conclusion. There are many choices that are marketed for infants and toddlers as healthy food yet they are usually very high in sugar, sodium, and artificial ingredients. Parents should not fall into the marketing trap and should work on educating themselves on what healthy nutrition really means. Grants. None

Impact of Training on Administration and Interpretation of PPD Testing

Background. Several studies have determined the importance of training on the skills shown to apply and interpret the Tuberculin test. Objective. To determine the impact of the Palm Beach County Health Department educational strategy, on the administration and interpretation of the Tuberculin test. Methods. In this descriptive study our health care providers were surveyed through an anonymous questionnaire to measure their competency on both areas. Their score was then correlated to the type of Tuberculin testing training they had. The data results were analyzed using a regression analysis. Results. Competency score was significantly different between Train the Trainer and the Health Department Training (P=0.15). Train the Trainer vs. Other was not statistically significant (P= 0.27). Health Department Training vs. Other was not statistically significant( P=0.18) as well as other paired comparisons. Conclusions. Type of training alone does not influence competency score, it only does it after adjusting for other covariates. Most of the participants in this study have completed the Train the Trainer or the Health Department Tuberculin testing course. When measuring one type of training against the other there’s significant influence over score mostly for the train the trainer course. The other variables found to influence score where year since training, department and center where the employee is working at, years working at the health department and number of tuberculin tests administered per month. This study is measuring scores obtained in a validated questionnaire which does not necessary corresponds to the skills of that particular practitioner. Grants. Funded by PBCHD

Childhood Brain Tumors in The Acreage: A Potential Cancer Cluster in Palm Beach County, Florida

Objective. This study will be conducted to describe and analyze the demographics and potential environmental risk factors of 6 confirmed cases of Pediatric Malignant Brain Tumors in an area being studied for a possible Brain Cancer Cluster. Background. In August 2009 the Division of Environmental Health from the Florida Department of Health (FDOH) released the report of a Preliminary Cancer Cluster Investigation in the area of Palm Beach County. Standardized Incidence Ratios (SIR) were used to analyze observed cases confirmed with the Florida Cancer Data System and the expected number of cases in the area; increased rates of malignant brain tumors for children in the period 2000-2007 were found, and consequently the Palm Beach County Health Department (PBCHD) will conduct a second phase of the investigation. Methods. A case series design will be used. An extensive structured questionnaire addressing exposures during pregnancy and after birth of the index case to possible environmental carcinogens that have been postulated as being associated with the development of Childhood Brain Tumors (CBT) will be administered to the parents of the total 14 cases (1996-2009) during the face-to-face interviews. Results. Frequencies of exposures to different potential carcinogens including but not limited to chemicals like N-nitroso compounds that could be found in water, type of diet during pregnancy, maternal and child farming activities, head trauma, radium in the soil and ionizing radiation will be analyzed and reported related to time and duration. Conclusion. The description of the environmental exposures of each case, when compared to the others, could provide early evidence of association between one or many environmental factors in the development of CBT and generate a hypothesis that would grant the need for further research using an analytical approach. Grants. PBCHD supported

Public Views and Behavior on Breast Cancer Screening Exams

Introduction. Several times at the Florida Osteopathic Medical Association (FOMA) health fairs we have the occasion to measure participants’ parameters that represent knowledge about the medical field. In March 2009 we launched a survey to measure the beliefs and behaviors toward the breast cancer screening exams. Objective. The main objective was to learn about public’s beliefs and practice of breast cancer screening exams. Methods. We focused on self-breast exams for all post-pubertal women and mammograms for women greater than 40 years of age. The family history of breast or ovarian cancer was questioned. Results. We analyzed 75 anonymous questionnaires administered to FOMA participants. Associations based on medical knowledge and physical exams were established. Conclusions. The ovarian cancer as a family history was not associated with the public’s beliefs and practice of breast cancer screening exams. Grants. Not funded

Substance Abuse Treatment Modalities and Outcomes in a Naturalistic Setting

Outcome studies are gaining importance in all areas of medical, social services and education practices due to a growing emphasis on evidence-based interventions. Evidence-based programs and practices combine research evidence with clinical expertise; the ultimate goal is to optimize clinical outcomes and improve patient quality of life. The need to implement programs that have track records of effectiveness has never been greater. The specific research questions addressed by this study were: 1. Among patients who completed treatment, what are the abstinence rates at up to 3 months, 3-6 months, and 6-12 months post-discharge? 2. What are the effects of the various treatment modalities on inpatient treatment completion status? 3. How do demographic characteristics (age, gender, and diagnosis) affect treatment completion status? 4. Among patients who completed treatment, what are the effects of the various treatment modalities on abstinence at various points in time? 5. Among patients who completed treatment, how do demographic characteristics (age, gender, and diagnosis) affect abstinence? 6. By incorporating the significant results from questions 2-5, which factors remain significant in a final logistic regression model? A retrospective case series study based on chart review was conducted in a private residential substance abuse treatment facility. During the 18-month time period of the study, 775 patients entered treatment and 677 completed treatment (87.4%). For those who completed treatment, follow-up data were collected by telephone calls. The abstinence rate at one year, including non-respondents to follow-up, was approximately 11%. Women were less likely to be abstinent than men, even though they were more likely to complete treatment. Those aged 65+ and ≤ 30 were more likely to be abstinent than those aged 31-64, yet an incremental increase by age category was found to be associated with treatment completion. Two intervention modalities, relapse prevention and spirituality, significantly differentiated patients by treatment completion in a univariate analysis. In a multiple imputation logistic regression analysis of abstinence, social support was the only interventive modality found to be positively related to abstinence, OR=2.31 and 95% CI=(1.44, 3.68), while substance abuse counseling was the only modality found to be negatively associated with abstinence, OR=0.41 and 95% CI=(0.21, 0.82. Implications for treatment improvement are discussed