Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.

The report covers the current and past activities of the department Molecular Genetics-Function and Therapy (MGFT) at the Cyprus Institute of Neurology and Genetics (CING), an affiliated Reference Center for the European Reference Network on Rare Endocrine Conditions (Endo-ERN).The presented data is the outcome of > 15 years long standing collaboration between MGFT and endocrine specialists from the local government hospitals and the private sector. Up-to-date > 2000 genetic tests have been performed for the diagnosis of inherited rare endocrine disorders. The major clinical entities included Congenital Adrenal Hyperplasia (CAH) due to pathogenic variants in CYP21A2 gene and Multiple Endocrine Neoplasia (MEN) type 2 due to pathogenic variants in the RET proto-oncogene. Other rare and novel pathogenic variants in ANOS1, WDR11, FGFR1, RNF216, and CHD7 genes were also found in patients with Congenital Hypogonadotropic Hypogonadism. Interestingly, a few patients with Disorders of Sexual Differentiation (DSD) shared rare pathogenic variants in the SRD5A2, HSD17B3 and HSD3B2 while patients with Glucose and Insulin Homeostasis carried theirs in GCK and HNF1A genes. Lastly, MGFT over the last few years has established an esteemed diagnostic and research program on premature puberty with emphasis on the implication of MKRN3 gene on the onset of the disease and the identification of other prognosis biomarkers.As an Endo-ERN member MGFT department belongs to this large European network and holds the same humanistic ideals which aim toward the improvements of health care for patients with rare endocrine conditions in respect to improved and faster diagnosis.

Effects of planned education on genital hygiene behavior of adolescent females in a secondary school: A quasi-experimental study in northern Cyprus.

This study was conducted as a pretest-posttest quasi-experimental design to determine the effect of planned education on the genital hygiene behaviors of secondary school female students in northern Cypurs. The research was conducted with 290 adolescents. Data were collected by using a personal information form and the Genital Hygiene Behavior Scale (GHBS). The paired sample t-test was used to analyze the data. It was determined that only 55.2 % of the adolescents received genital hygiene training, 11.7% had a genital infection and 48.6% used cosmetic products for the genital area. After education, there was a statistically significant increase in the GHBS scores and its dimensions, indicating the effectiveness and necessity of genital hygiene education. Genital hygiene education had a positive effect on the knowledge and practices of adolescent females. Therefore, planned education on genital hygiene, in which nurses play an important role, can be conducted regularly educations and home visits.

Cette étude a été menée sous la forme d'un plan quasi-expérimental prétest-posttest pour déterminer l'effet de l'éducation planifiée sur les comportements d'hygiène génitale des étudiantes du secondaire. La recherche a été menée auprès de 290 adolescents. Les données ont été collectées à l'aide d'un formulaire de renseignements personnels et de l'échelle de comportement en matière d'hygiène génitale (GHBS). Le test t pour échantillons appariés a été utilisé pour analyser les données. Il a été constaté que seulement 55,2 % des adolescents avaient reçu une formation en hygiène génitale, 11,7 % souffraient d'une infection génitale et 48,6 % utilisaient des produits cosmétiques pour la région génitale. Après l'éducation, il y a eu une augmentation statistiquement significative des scores GHBS et de ses dimensions, indiquant l'efficacité et la nécessité de l'éducation à l'hygiène génitale. L'éducation à l'hygiène génitale a eu un effet positif sur les connaissances et les pratiques des adolescentes. Par conséquent, une éducation planifiée sur l'hygiène génitale, dans laquelle les infirmières jouent un rôle important, peut être dispensée régulièrement et des visites à domicile.

Massive Parallel DNA Sequencing of Patients with Inherited Cardiomyopathies in Cyprus and Suggestion of Digenic or Oligogenic Inheritance.

Inherited cardiomyopathies represent a highly heterogeneous group of cardiac diseases. DNA variants in genes expressed in cardiomyocytes cause a diverse spectrum of cardiomyopathies, ultimately leading to heart failure, arrythmias, and sudden cardiac death. We applied massive parallel DNA sequencing using a 72-gene panel for studying inherited cardiomyopathies. We report on variants in 25 families, where pathogenicity was predicted by different computational approaches, databases, and an in-house filtering analysis. All variants were validated using Sanger sequencing. Familial segregation was tested when possible. We identified 41 different variants in 26 genes. Analytically, we identified fifteen variants previously reported in the Human Gene Mutation Database: twelve mentioned as disease-causing mutations (DM) and three as probable disease-causing mutations (DM?). Additionally, we identified 26 novel variants. We classified the forty-one variants as follows: twenty-eight (68.3%) as variants of uncertain significance, eight (19.5%) as likely pathogenic, and five (12.2%) as pathogenic. We genetically characterized families with a cardiac phenotype. The genetic heterogeneity and the multiplicity of candidate variants are making a definite molecular diagnosis challenging, especially when there is a suspicion of incomplete penetrance or digenic-oligogenic inheritance. This is the first systematic study of inherited cardiac conditions in Cyprus, enabling us to develop a genetic baseline and precision cardiology.

The first Neolithic boats in the Mediterranean: The settlement of La Marmotta (Anguillara Sabazia, Lazio, Italy).

Navigation in the Mediterranean in the Neolithic is studied here through the boats that were used, the degree of technical specialisation in their construction and, above all, their chronology. After a brief explanation of the exceptional site of La Marmotta, the characteristics and chronology of the five canoes found at the settlement and one of the nautical objects linked to Canoe 1 are discussed. This will allow a reflection on the capability of Neolithic societies for navigation owing to their high technological level. This technology was an essential part in the success of their expansion, bearing in mind that in a few millennia they occupied the whole Mediterranean from Cyprus to the Atlantic seaboard of the Iberian Peninsula.

A fractional-order model for nosocomial infection caused by Pseudomonas aeruginosa in Northern Cyprus.

Pseudomonas aeruginosa, a resilient gram-negative bacterium, poses a persistent threat as a leading cause of nosocomial infections, particularly in resource-constrained regions. Despite existing treatment and control measures, the bacterium continues to challenge healthcare systems, especially in developing nations. This paper introduces a fractional-order model to elucidate the dynamic behavior of nosocomial infections caused by P. aeruginosa and to compare the efficacy of carbapenems and aminoglycosides in treatment. The model's existence and uniqueness are established, and both global and local stability are confirmed. The effective reproduction number is computed, revealing an epidemic potential with a value of 1.02 in Northern Cyprus. Utilizing real-life data from a university hospital and employing numerical simulations, our results indicate that patients exhibit higher sensitivity and lower resistance to aminoglycoside treatment compared to carbapenems. Aminoglycosides consistently outperform carbapenems across key metrics, including the reduction of susceptible population, infection numbers, treatment efficacy, total infected population, hospital occupancy, and effective reproduction number. The fractional-order approach emerges as a suitable and insightful tool for studying the transmission dynamics of the disease and assessing treatment effectiveness. This research provides a robust foundation for refining treatment strategies against P. aeruginosa infections, contributing valuable insights for healthcare practitioners and policymakers alike.

A comparison of butterfly communities in irrigated and non-irrigated Mediterranean farmlands.

Irrigation is considered a form of agricultural intensification and is of significant importance in arid and semi-arid regions, such as those in the Mediterranean basin. This region differs substantially from temperate ones, in terms of climate, land-use policies and types of agricultural systems. Therefore, how biodiversity is affected by agricultural intensification may also differ substantially from countries in north-western Europe. We investigated the effect of irrigation on butterfly diversity and abundance at two different spatial scales in an agricultural region in northern Cyprus, an area representative of typical lowland agricultural practices of the Eastern Mediterranean. We investigated how local field-scale management (irrigated vs rain-fed) and the proportion of irrigated land at a larger scale of 0.25 km2 affected the abundance and diversity of butterflies and herbaceous plant species. Butterflies and herbaceous plants were surveyed in field boundaries adjacent to agricultural fields located in paired plots that had contrasting levels of irrigation. Butterflies in the field boundaries along agricultural fields were strongly positively affected by irrigation in the adjacent fields both in terms of abundance and species diversity, whereas the effect of irrigation at the larger scale of the 0.25-km2 plot was less prominent. Species composition of butterflies and plants did not correlate. However, plant abundance and alpha diversity of the vegetation in the field boundaries correlated with both abundance and alpha diversity of the butterflies when the abundance of plants was relatively low, in particular, when grasses were omitted from the data set. Crop species associated with irrigated fields contributed to the observed patterns. Comparing the results of this study with those reported for temperate regions in northwestern Europe reveals that the effectiveness of management schemes on biodiversity depend on biogeographical region, highlighting the risk of making broad assumption on the effectiveness of management strategies on biodiversity.

Deciphering the maternal ancestral lineage of Greek Cypriots, Armenian Cypriots and Maronite Cypriots.

Cyprus was conquered from several populations because of its special geographical location. In this study, 406 unrelated Cypriot samples were tested based on their mitochondrial DNA. In more detail, 185 were Greek Cypriots, 114 Armenian Cypriots and 107 Maronite Cypriots. This is the first time where the mitochondrial DNA of Greek Cypriots, Armenian Cypriots and Maronite Cypriots is compared with the aim of characterizing the maternal ancestry of Cypriots. The control region of the mtDNA is the most informative in terms of studying maternal ancestry and consists of three hypervariable regions (HVS-I, HVS-II, HVS-III). The hypervariable regions can provide important information regarding the maternal ancestor of the tested samples. The entire control region of the mtDNA was used to determine the mitotypes and subsequently the haplogroups of all the Cypriot DNA samples. Based on the aforementioned analyses, Greek Cypriots were found to be genetically closer to Armenian Cypriots, while Greek Cypriots and Armenian Cypriots showed moderate genetic differentiation with Maronite Cypriots. The most prevalent haplogroups among Cypriots were haplogroups H and U, while R0 is common but in different frequencies for Greek Cypriots, Armenian Cypriots and Maronite Cypriots. It is proposed that the maternal ancestor may have originated during the Neolithic period and/or the Bronze age.

The Evaluation of Invasive Prenatal Diagnostic Tests in North Cyprus: A Retrospective Study.

BACKGROUND: Congenital diseases are still an important medical, social, and economic problem all over the world. In North Cyprus, in addition to other reasons, early prenatal diagnostic measures are undertaken to prevent births with thalassemia major, a locally widespread genetic disease. AIM: This study aims to evaluate the results of prenatal invasive diagnostic tests performed in a private obstetrics clinic in Northern Cyprus and show the diagnosis process of thalassemia and chromosomal anomalies. MATERIALS AND METHODS: This study is a retrospective, descriptive study. Chorionic villus sampling (CVS) results and the amniocentesis tests performed between 1990 and 2022 are evaluated. Thalassemia and chromosome analysis of samples obtained by CVS and amniocentesis tests were performed. To diagnose alpha or beta thalassemia and sickle cell, 239 CVS was performed. And to diagnose chromosomal anomalies, 396 CVS and amniocentesis were performed. RESULTS: The mean age of the 480 pregnant women included in the study was 31.12 years (18-46) and 30% of them were older than 34 years. The most common indications for invasive prenatal diagnostic test (IPDT) were; mother/father thalassemia minor/major, advanced maternal age, high risk of ultrasonography erase findings, and the noninvasive screening test. The result of IPDT detected 7.3% chromosomal anomaly and 69.5% thalassemia and sickle cell anemia. Of the 239 CVS performed to diagnose alpha or beta thalasemia and sickle cell, 23.4% beta major, 42.3% beta minor, and 2.1% alpha minor were diagnosed. Of the 396 CVS and amniocentesis performed to diagnose chromosomal anormalies; 2.8% of Down syndrome and 4.54% of other chromosomal anomalies were diagnosed. CONCLUSION: IPDT is important in correctly diagnosing fetal anomalies at the prenatal stage to help families decide at the right time.

Promoting Linguistically Based Health Literacy in Doctors for Better Cancer Healthcare in Cyprus.

This paper explores a novel approach in cancer healthcare, underscoring the significance of fostering health literacy among doctors by enhancing their ability to employ linguistically oriented strategies to extract and interpret the linguistic behavior of patients. The focus is on the Greek-Cypriot context, where research on health literacy is still in its nascent stages.

Primary care indicators for disease burden, monitoring and surveillance of COVID-19 in 31 European countries: Eurodata Study.

BACKGROUND: During the COVID-19 pandemic, the majority of patients received ambulatory treatment, highlighting the importance of primary health care (PHC). However, there is limited knowledge regarding PHC workload in Europe during this period. The utilization of COVID-19 PHC indicators could facilitate the efficient monitoring and coordination of the pandemic response. The objective of this study is to describe PHC indicators for disease surveillance and monitoring of COVID-19's impact in Europe. METHODS: Descriptive, cross-sectional study employing data obtained through a semi-structured ad hoc questionnaire, which was collectively agreed upon by all participants. The study encompasses PHC settings in 31 European countries from March 2020 to August 2021. Key-informants from each country answered the questionnaire. Main outcome: the identification of any indicator used to describe PHC COVID-19 activity. RESULTS: Out of the 31 countries surveyed, data on PHC information were obtained from 14. The principal indicators were: total number of cases within PHC (Belarus, Cyprus, Italy, Romania and Spain), number of follow-up cases (Croatia, Cyprus, Finland, Spain and Turkey), GP's COVID-19 tests referrals (Poland), proportion of COVID-19 cases among respiratory illnesses consultations (Norway and France), sick leaves issued by GPs (Romania and Spain) and examination and complementary tests (Cyprus). All COVID-19 cases were attended in PHC in Belarus and Italy. CONCLUSIONS: The COVID-19 pandemic exposes a crucial deficiency in preparedness for infectious diseases in European health systems highlighting the inconsistent recording of indicators within PHC organizations. PHC standardized indicators and public data accessibility are urgently needed, conforming the foundation for an effective European-level health services response framework against future pandemics.

Psychometric properties of a Turkish version of the social activities scale for community-dwelling older people requiring support.

BACKGROUND: Social activities decelerate the deterioration of mental capacity in older people and improve their physical and psychosocial health. Valid and reliable measurement tools are needed to determine the social activity status of older people and plan health services to protect their mental health. OBJECTIVE: This study aimed to adapt the Social Activities Scale for Community-Dwelling Older People Requiring Support (SASOS) into Turkish. METHODS: This methodological study was conducted in Northern Cyprus between January and June 2022. Convenience sampling was used to recruit 155 community-dwelling older people who needed support. Expert opinion, item-content validity index, and scale-content validity index were used to evaluate content validity. Internal consistency and test-retest reliability tests were used to evaluate reliability. Exploratory factor analysis was used to evaluate construct validity. The Loneliness Scale for Elderly was used to evaluate concurrent validity. RESULTS: The Cronbach's alpha of SASOS was 0.90. Additionally, correlation coefficients of all items ranged between 0.61 and 0.79. Exploratory factor analysis revealed a three-factor structure. 'Interactions with friends and neighbors' was the factor that explained the highest variance (46%). There was a negative, weak, and statistically significant relationship between the scores obtained from the social loneliness subscale of LSE and all three subscales of SASOS. CONCLUSIONS: The Turkish version of SASOS is a valid, reliable instrument to evaluate social activities in community-dwelling older people who needed support. IMPLICATIONS FOR PRACTICE: The SASOS has been identified as a valuable measure for assessing the social support needs of older individuals. It serves as a guide for both planning and evaluating interventions to enhance their health.

Epidemiology, risk factors, clinical presentation and complications of late-onset neonatal sepsis among preterm neonates in Cyprus: a prospective case-control study.

BACKGROUND: Late-onset neonatal sepsis (LOS) is common in preterm neonates, with increasing incidence in recent years. In the present study, we examined the epidemiology, clinical presentation, and complications of LOS in Cyprus and quantified possible risk factors for the development of this condition. METHODS: The study subjects were preterm neonates admitted in the Neonatal Intensive Care Unit (NICU) of Archbishop Makarios III Hospital, the only neonatal tertiary centre in Cyprus. A prospective, case-control study was designed, and carried out between April 2017-October 2018. Depending on blood culture results, preterm neonates were classified as "Confirmed LOS": positive blood culture - microorganism isolated and LOS symptoms, "Unconfirmed LOS": negative blood culture and LOS symptoms, and "Controls" group: negative blood culture and absence of LOS symptoms. Comparisons between the 3 groups were performed and the associations between demographic, clinical and treatment characteristics with the likelihood of LOS were assessed using univariate and multivariate logistic regression. RESULTS: A total of 350 preterm neonates were included in the study and the incidence of LOS was 41.1%. 79 (22.6%) and 65 (18.6%) neonates were classified as "Confirmed LOS", and "unconfirmed LOS" cases respectively while 206 (58.9%) served as controls. The rate of confirmed LOS ranged from 12.2% in moderate to late preterm neonates to 78.6% in extremely preterm neonates. In the multivariate model, we demonstrated an independent association between LOS and duration of hospitalization (OR: 1.06, 95%CI: 1.01-1.10), duration of ventilation (OR: 1.23, 95%CI: 1.07-1.43) and necrotising enterocolitis (OR: 3.41, 95%CI: 1.13-10.25). CONCLUSIONS: The present study highlights the epidemiology of LOS in preterm neonates in Cyprus and its association with the duration of ventilation and hospitalization as well as with necrotizing enterocolitis. Establishment of protocols for the prevention of nosocomial infections during hospitalization in the NICUs and mechanical ventilation of preterm neonates is recommended.

Opportunities for healthcare digitalization in Europe: Comparative analysis of inequalities in access to medical services.

Digitalization of healthcare systems is a great opportunity to address inequalities in access to healthcare in the European Union. There is an urgent need to build on what we learned from the COVID-19 pandemic, where digital health technologies were integrated swiftly to limit challenges in healthcare delivery. We created a database for the 27 European Union countries from the European Health Interview Survey (EHIS), the Digital Economy and Society Index (DESI), and other Eurostat databases. We performed k-means cluster analysis to group EU countries along two dimensions: inequalities in access to medical services and level of digitalization. We identified five distinct clusters: two clusters with high, two clusters with moderate, and one cluster with low unmet need for healthcare. Regarding digitalization, only one cluster comprising the Nordic countries, Spain and Cyprus exhibit high digital readiness. A cluster comprising the most developed countries in Western Europe represents moderate levels of both unmet need for healthcare and digitalization. For most EU countries, there is still a need to build digital infrastructure for the healthcare industry, which in the long term may increase the number of digital solutions used by both patients and healthcare professionals. Policy makers across the EU need to consider investing in initiatives that would support digital health solutions as an effective means of healthcare provision and healthcare management.

Do nutritional habits and supplement use affect health-related quality of life during social isolation period in the community of North Cyprus?

The aim of study was to comprehensively investigate the effect of nutritional habits and supplement use on health-related quality of life during social isolation period. This study was a cross-sectional study. A total of 418 participants (73.4% were women and 26.6% were men) participated in this study. Participants' demographic information, nutritional habits, and quality of life were questioned, and anthropometric measurements were obtained. A significant difference was found in the main meal skipping status of individuals by age group. The consumption of milk, yoghurt, ayran, legumes, cereal products other than bread, vegetables, fruits, oilseeds, and snack foods was similar in both periods. Furthermore, frequencies of multivitamins, multiminerals, vitamin B12, vitamin C, vitamin D, iron, calcium, omega-3, and probiotics were similar during and before the pandemic. A significant difference was found in scores obtained on the Quality of Life Scale (QOLS) by age group. There was a significant difference in the quality of life scores by body mass index (BMI) groups. It was concluded that quality of life decreased due to the increase in body weight during pandemic period. The social isolation period did not make a clear difference in the nutritional habits of individuals and the use of nutritional supplements. When the main meal skipping situations were evaluated within the scope of nutritional habits, those who did not skip their main meal received the highest score on the QOLS.

Tracking the behavior of an accidental oil spill and its impacts on the marine environment in the Eastern Mediterranean.

The eastern Mediterranean region is a vital hub for oil transportation and production because of its strategic location between Europe, Asia, and Africa. But its unique attributes, including narrow shipping routes, heavy marine traffic, and proximity to vulnerable ecosystems, render it particularly susceptible to accidental oil spills. In this research, an oil spill detection model, along with bathymetric and oceanographic parameters, was used to track oil spills that occurred at the Syrian Baniyas Station in the Eastern Mediterranean on August 23, 2021. Furthermore, the study employed a pairwise comparison matrix (PWCM) to assess the relative importance of wind speed and direction, water depth, and sea surface temperature (SST) in the dispersion of oil spills. Analysis of Sentinel-1 data obtained prior to, during, and after the incident revealed the accumulation of oil slicks along the Syrian coast from Baniyas to Latakia for up to twenty days. The spilled oil reached the coast of Cyprus six days after the incident. The study determined that wind speed and direction played a critical role in the dispersion of spilled oil, while water depth and SST were comparatively less significant factors in this process. The overall accuracy (OA) and Kappa coefficient (KC) for land, water, and oil slick classes derived from the random forest (RF) algorithm ranged from 90 % to 98 % and from 0.86 to 0.98, respectively. The spread of oil slicks at the incident location was revealed by the decorrelation stretch and band ratios of Sentinel-2 MultiSpectral Instrument (MSI) data. The accidental oil spill could have negative effects on the organic carbon cycle, chlorophyll production, and ecosystem productivity. It is essential to consider the vulnerability of specific regions in the Eastern Mediterranean to oil spills when developing adaptation strategies.

Greek adaptation of the Teruel Orthorexia Scale (TOS) in adults from the Republic of Cyprus: A bidimensional model may not be universal.

The Teruel Orthorexia Scale (TOS) is a 17-item instrument designed to assess distinct facets of Orthorexia Nervosa (ON) and Healthy Orthorexia (HO). While a bidimensional model of TOS scores has been supported in diverse national and linguistic groups, the psychometric properties of the TOS have not been previously assessed in Greek-speaking populations. To rectify this, we assessed the psychometric properties of a novel Greek translation of the TOS in a sample of adults from Cyprus. A total of 1248 respondents (710 women, 538 men) completed the Greek TOS, as well as previously validated measures of perfectionism, obsessive-compulsive symptomatology, eating restriction, negative affect, and appearance evaluation. Our results showed that a bidimensional model of the TOS had less-than-adequate fit when modelled using both confirmatory factor analysis and exploratory structural equation modeling (ESEM). Conversely, both exploratory factor analysis and ESEM supported extraction of a 3-factor model consisting of a HO facet and separate components of emotional orthorexia and cognitive-social orthorexia. This 3-factor model showed a lack of measurement bias (measurement invariance across gender identity and lack of differential item functioning as function of age and body mass index), but there were differences in latent factor means as function of respondent age and body mass index. The 3-factor model showed adequate evidence of construct validity, with the latent emotional orthorexia and cognitive-social orthorexia facets showing significant and moderate associations with the additional constructs measured in the survey. Broadly speaking, these findings support the psychometric properties of a 3-factor model of the Greek TOS, but also suggest that the bidimensional model of the TOS may not have universal applicability. We encourage further assessments of factorial validity in other national and linguistic contexts.

Disaster Preparedness of Nursing Students in Northern Cyprus: Descriptive Cross-Sectional Study.

OBJECTIVE: This study aims to evaluate disaster preparedness of undergraduate nursing students. METHODS: This descriptive cross-sectional study included 302 voluntary nursing students from a university in Northern Cyprus. Data were collected through an online survey using Google Forms, which included a descriptive information form and the General Disaster Preparedness Belief Scale (GDPBS). RESULTS: The mean age of the participants was 20.64 ± 2.02 years. Among the participants, 41.7% had prior experience with disasters, and 77.2% expressed a need for disaster education. The average GDPBS total score was high, and the mean score of the sub-dimensions was moderate. Nursing students who expressed a need for disaster education had higher scores on the severity and self-efficacy subscales of the GDPBS (p<0.05). CONCLUSION: The level of disease preparedness was moderate in nursing students in Northern Cyprus. Therefore, education based on the health belief model, which assumes that positive health behaviors are affected by knowledge and attitudes, may be useful to improve disaster preparedness in nursing students.