Carrier screening programs for rare diseases in developed countries and the case of Turkey: A systematic review.

Effective control of rare diseases requires health programs based on principles of protection and prevention. Carrier screening programs serve as preventive measures by identifying at-risk groups. This review examines the impact, implementation, advantages, and disadvantages of carrier screening, incorporating examples from ten countries: the United States, Canada, the United Kingdom, Israel, China, Australia, Italy, Germany, the Netherlands, and Turkey. Data on carrier screening and related policies were collected from July to November 2022 and presented in a tabular format using a coding system devised by the authors. Variability was observed in the diseases/disorders and populations screened, screening expenses, and government provision across the countries. The number of diseases/disorders examined, ranging from 3 to 47, was determined by committee guidelines, government resources, pilot studies, and national institute resources. Notably, carrier screening programs exhibited greater worldwide inconsistency compared to newborn screening programs. The comparative analysis of developed countries serves to guide emerging nations. To address inequalities at both local and global levels, there is a need to enhance the establishment, development, and implementation of carrier screening programs. Furthermore, cost analyses of screening should be conducted, and adequate funding should be allocated to countries. In conclusion, this review highlights the preventive potential of carrier screening for rare diseases and emphasizes the importance of improving carrier screening programs globally to achieve equitable healthcare outcomes.

Expanded newborn bloodspot screening: developed country examples and what can be done in Turkey.

Bloodspot screening in newborns is an exemplary public health intervention as it is essential secondary prevention with proven efficacy and benefit for the early diagnosis and prompt treatment of rare diseases. In this mini review, newborn bloodspot screening (NBS) programs of 12 countries were examined in terms of the extent of diseases/disorders screened to form recommendations for Turkey's expanded newborn screening program. Essentially, Turkey and 11 selected countries' official policies/ national programs or strategies in terms of newborn screening and the number of diseases/conditions screened were examined. The current status of spinal muscular atrophy (SMA) screening was also checked through the SMA NBS Alliance. In addition, WHO and EURORDIS guidelines for newborn screening were also reviewed. On the Pubmed database, following the search strategy "((newborn screening[Title/Abstract]) OR (newborn screening program[Title/Abstract])) OR (newborn blood spot screening[Title/Abstract])" in the PubMed database from 1 January 2008 to 1 December 2021. Diseases that will be recommended to be included in the Turkish national newborn bloodspot screening program will be presented by evaluating the updated criteria of Wilson and Jungner by constructing international comparisons. The number of diseases/disorders screened by the inspected 12 countries is eminently variable and ranges from 5 in Turkey to 51 in New York, United States of America (USA). Acknowledging the programs of other countries, it is evident that Turkey must advance its program by evaluating the epidemiological data in Turkey, the health workforce, and infrastructure while relying on the updated screening criteria. The newborn bloodspot screening program should be expanded based on the cost estimates and implemented starting with pilot applications and the diseases/disorders that are deemed appropriate should be included in the national program.

Social support and quality of life in a group of cancer patients (Ankara, Turkey).

BACKGROUND/AIM: Cancer has become an important public health challenge all around the world. Though the demographic and clinical features of cancer patients are well documented in Turkey, the establishment of social support networks has been somewhat neglected. The aim of the study was to assess cancer patients' perceived social support and quality of life characteristics. MATERIALS AND METHODS: The Multidimensional Perceived Social Support Scale, European Organization of Research and Treatment of Cancer Quality of Life Questionnaire, and Turkish version of the EUROHIS measurements were obtained from the study group. Associations between the scores and sociodemographic variables of the patients were evaluated. Determination of the best predictors that affect social support perception scores was performed by multiple linear regression analysis. RESULTS: A total of 364 patients (217 females, 147 males) were analyzed. Regarding the mean scores of perceived social support, statistically significant differences were found between education, perceived economic status, and ECOG groups (P < 0.001). CONCLUSION: The best predictors that have an effect on perceived social support need to be studied in depth with further research.

Workplace Violence in the Health Sector in Turkey: A National Study.

Violence in the workplace is an increasing occupational health concern worldwide. Health care workers are at high risk of assault. To develop, monitor, and manage prevention policies, baseline data should be available. This cross-sectional study was designed to determine the current extent of workplace violence nationwide in Turkey. The study population of 12.944 health care workers was a stratified sample of all health care workers (612,639) in the country. A probabilistic sampling was made on the basis of the "multistage stratified random cluster sampling method." This study was conducted by a structured questionnaire in a face-to-face interview. The questionnaire items were adapted and translated into Turkish based on questionnaires of International Labor Organization, International Council of Nurses, World Health Organization, and Public Services International. The percentage of health care workers who experienced workplace violence in Turkey in the previous 12 months was 44.7%. The types of violence included physical 6.8%, verbal 43.2%, mobbing (bullying) 2.4%, and sexual harassment 1%. Multivariate analysis showed that level of health care system, type of institution, gender, occupation, age, working hours, and shift work were independent risk factors for experiencing workplace violence ( p < .05). Our study indicates that the workplace violence among health care workers is a significant problem. The results of the study can serve as the basis for future analytical studies and for development of appropriate prevention efforts.

An analysis of the incidence of measles in Turkey since 1960.

BACKGROUND/AIM: The aims of this study were to evaluate measles incidence and the effect of elimination strategy interventions on the disease from 1960 to 2014 in Turkey. The administration of measles vaccine started in the rural regions in 1970; it was carried out as a campaign along with the National Vaccine Campaign in 1985, and it has been employed as combined measles, mumps, and rubella under the scope of the Measles Elimination Program (MEP) since 2006 in Turkey. While a dramatic decrease in the reporting of measles was observed between 2000 and 2010, the number of the cases has increased since 2011. MATERIALS AND METHODS: The time series of measles incidence was evaluated for possible structural changes with regression models using dummy variables, autocorrelated with error terms. RESULTS: The incidence of measles showed a statistically significant decline between 1985 and 1988 (P = 0.0072) and between 2005 and 2011 (P < 0.0001). However, a statistically significant increase in incidence was noted after 2013 (P = 0.0008). CONCLUSION: Over the last 54 years, the pattern of measles cases demonstrated a significant decline in incidence. However, the increase in incidence in 2013 should be carefully analyzed and interpreted in terms of the MEP.

Fighting against cigarette smoking among medical students: a success story.

A survey in the year 2007 among medical students of Ankara University Medical School to assess the smoking rates showed that 25.1 % of them were smoking. Moreover, the smoking rate was 35 % at sixth grade students and 60 % of the smokers specified that they started smoking at medical school. This report provides a successful approach to decrease smoking among medical students by measures against starting smoking. An "Antismoking Group" composed of voluntary academic staff, nurses, students, psychologists, and a social worker of the medical school was established to engage in lowering the smoking rate and eliminating it eventually among our students. Several methods including regular monthly meetings, annual "Smoking or Health" symposiums, and lectures to first, second, and third grade students to increase their awareness related to harms of smoking and their role in the fight against smoking were carried out. Our surveys in the years 2009 (641 students) and 2012 (975 students) showed that total smoking rates dropped to 15.0 and 11.0 %, respectively (p < 0.0002). Moreover, the smoking rate for the sixth grade students dropped from 35.0 % in 2007 to 21.8 and 8.8 % in the years 2009 and 2012, respectively (p < 0.0002). In 2012, the smoking rates of first year and sixth year students were 7.8 and 9.0 %, respectively. These close rates of smoking at the first and last years of medical school training and the significant drop in smoking rates in 5 years confirm that our group pursued a realistic and successful strategy against smoking.

Evaluation of unintentional injuries sustained by children: A hospital based study from Ankara-Turkey.

OBJECTIVES: Unintentional injuries are one of the leading causes of death, hospitalization and disability across the world. Detailed work on child injury in low-income and middle-income countries began more recently and is now indicating priorities for prevention. This study aims to draw attention to the subject with the assessment of the injuries sustained by the study group. METHODOLOGY: Data of the descriptive study was collected at the Emergency Department's trauma section of a Training and Research Hospital, located in Ankara during the period of October-November 2010. Children visiting the hospital due to an injury under the age of 18 were included to the study group by assent of the child and consent of the parents. RESULTS: Of the study group 75.3% were boys, 35.31% were 11-15 year of age. The most frequent cause of the injuries were falls among boys (48.3%), girls (50.0%) and, 11-15 years of age (32.8%). Most injured organs (63.6%) were extremities and most frequent damage caused by the injury was fracture (29.5%). Almost half of the injuries (44.0%) occurred in and around the school. CONCLUSION: Development and implementation of systematic surveillance is necessary to identify the epidemiologic characteristics of childhood injuries at national level. Definition of the risk factors and protective factors is a priority of countries to prevent such injuries.

An analysis of the prevalence of malaria in Turkey over the last 85 years.

BACKGROUND: Affecting 106 countries, malaria is a major global burden. Though intensive antimalaria efforts in Turkey have been successful in bringing down the number of cases, historically malaria was a serious public health concern. METHODS: This paper reviews the prevalence rates of malaria in Turkey over the last 85 years (1925-2010). The time series of malaria prevalence was evaluated for possible structural changes by using Chow breakpoint tests and regression models using dummy variables, with autocorrelated errors and generalized autoregressive conditional heteroscedasticity models to assess the impact of volatility in prevalence. RESULTS: Seventy-eight cases of malaria were diagnosed in Turkey in 2010. Malaria prevalence rates in the country show a statistically significant volatility, which underlines the fragility of efforts to control the disease. CONCLUSIONS: It is necessary to analyse the national malaria control programme to evaluate to what extent its programmatic capacity, financial resources, and political commitment are sufficient to avoid eroding the gains that have already been made and, ultimately, eradicate malaria. It is essential that there should be no lessening in the long-standing efforts to reduce malaria.

Symptoms of musculoskeletal disorders among ammunition factory workers in Turkey.

The aim of this study was to assess the prevalence of symptoms of work-related musculoskeletal disorders (MSDs) and to determine the risk factors among ammunition factory workers in Turkey. This cross-sectional study was performed on 955 ammunition factory workers. Potential risk factors were investigated with a questionnaire and multivariate logistic regression analysis was performed. During the previous year, 39.3% of ammunition workers experienced symptoms of work-related MSDs. Logistic regression analysis showed smoking (odds ratio [OR] = 1.372), chronic diseases (OR = 1.795), body mass index (BMI; overweight) (OR = 1.631), working year (OR = 1.509), cold temperature (OR = 1.838), and work load (OR = 2.210) were significant independent risk factors for the development of symptoms of MSDs. It was found that both work-related conditions and personal and environmental factors are important for the development of occupational MSDs.

Evaluation of habitual behavior related to genital hygiene in women living in a health care center area.

OBJECTIVE: To evaluate that habitual behaviors related to genital hygiene in women living in a Health Care Center Area. METHODS: In this cross-sectional study, 400 women were sampled to represent women in reproductive ages (15-49 ages) living in the Park Health Care Center Area, Ankara, Turkey between June and September 2008. Three hundred and eighty-six (96.5%) women were interviewed for evaluation of habitual behaviors related to genital hygiene. The chi-square test was used for statistical analysis. RESULTS: The mean age of the study group was 32.19+/-9.54 (15-49) years. Of the study group, 21.5% had daily baths, 77.2% used cotton underwear, and 71.8% wiped front to back after using the toilet. Of those who menstruated, 83.4% used hygienic pads during menstrual periods, and 42.1% of the 321 married women confirmed practicing vaginal douching. The education level p=0.001, p=0.000, income level p=0.034, p=0.005, employment p=0.022, p=0.000, and house type p=0.005, p=0.006 were found as factors affecting general frequency of bathing and type of pad used during the menstrual period. Frequency of vaginal douching was higher in housewives than employed women p=0.000. CONCLUSION: The rate of women who had appropriate behaviors related to genital hygiene among the study group was found to be low, particularly within groups with a low socioeconomic level. Thus, it will be useful for health care employers to emphasize this issue at every opportunity.

Establishment of interdisciplinary child protection teams in Turkey 2002-2006: identifying the strongest link can make a difference!

OBJECTIVES: The University of Iowa Child Protection Program collaborated with Turkish professionals to develop a training program on child abuse and neglect during 2002-2006 with the goals of increasing professional awareness and number of multidisciplinary teams (MDT), regional collaborations, and assessed cases. This paper summarizes the 5-year outcome. METHODS: A team of instructors evaluated needs and held training activities in Turkey annually, and provided consultation when needed. Descriptive analysis was done via Excel and SPSS software. RESULTS: Eighteen training activities were held with 3,570 attendees. Over the study period, the number of MDTs increased from 4 to 14. The MDTs got involved in organizing training activities in their institutions and communities. The number of medical curriculum lectures taught by MDTs to medical students/residents, conferences organized by the MDTs, and lectures to non-medical professional audiences increased significantly (R(2)=91.4%, 83.8%, and 69.2%, respectively). The number of abuse cases assessed by the MDTs increased by five times compared to pre-training period. CONCLUSIONS: A culturally competent training program had a positive impact on professional attitudes and behaviors toward recognition and management of child abuse and neglect in Turkey. The need to partner with policy makers to revise current law in favor of a greater human services orientation became clear. PRACTICE IMPLICATIONS: Pioneers in developing countries may benefit from collaborating with culturally competent instructors from countries with more developed child protection systems to develop training programs so that professional development can improve recognition and management of child abuse and neglect.

The relationship between occupations and head and neck cancers.

OBJECTIVE: The objective of this study was to investigate the relationship between occupation and head and neck cancers. PATIENTS AND METHODS: In this case-control study, 206 Turkish patients with head and neck cancers comprised the case group. The control group consisted of 206 age- and sex-matched patients without malignant disease. All patients completed a questionnaire regarding occupation; tobacco and alcohol consumption; educational status; and history of any systemic disease, benign head and neck disease, and cancer among family members. High-risk jobs were considered those in the industries of construction, wood, mining, metal, chemistry and agriculture. RESULTS: Patients with head and neck cancers worked in high-risk occupations more frequently than did controls [odds ratio (OR): 3.42, p<0.05]. Cancer risk decreased with the increase in time interval between quitting the high-risk job and time of interview. Smokers were at higher risk than nonsmokers (OR: 3.33, p<0.05). The risk was also higher in patients who drank alcohol regularly (OR: 1.59, p<0.05). However, occupation was found to be an independent high-risk factor for head and neck cancers in regression analysis. Frequency of benign head and neck disease and family history of cancer were not significant risk factors (p>0.05). CONCLUSION: Our analysis showed that occupation and smoking were significant independent risk factors for the development of head and neck cancers among workers.