Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country.

Comprehensive data on variant transthyretin amyloidosis polyneuropathy (ATTRv-PN) in Greece are lacking. We presently provide an overview of ATTRv-PN in Greece, focusing on unexplored non-endemic regions of the country. In total, we identified 57 cases of ATTRv-PN diagnosed over the past 25 years, including 30 from the island of Crete, an apparent endemic region. Patients carried 10 different TTR mutations (C10R; P24S; V30M; R34G; R34T; I68L; A81T; E89Q; E89K and V94A). Carriers of the common V30M mutation constituted 54.3 % of the cohort. A known founder effect for the V30M mutation was present on the island of Crete. Non-endemic cases identified outside the island of Crete are presently reported in more detail. The age of onset ranged from 25 to 77 years, with a mean of 51.1 years. A mean diagnostic delay of 3.2 years was observed. V30M patients had earlier onset and less cardiac involvement than patients carrying other mutations. Genotype-phenotype correlations were largely consistent with published data. We conclude that, with the exception of the Cretan cluster, ATTRv-PN is not endemic in the Greek population. This makes timely diagnosis more challenging, yet absolutely essential given the availability of therapies that can alter the long-term course of the disease.

Successful aging and lifestyle comparison of Greeks living in Greece and abroad: the epidemiological Mediterranean Islands Study (MEDIS).

OBJECTIVES: Comparing lifestyle and successful aging between Greeks living in Greece (GG) and Greeks living abroad (GA) using a multidimensional model of successful aging including both biomedical and non-medical components. METHODS: Anthropometric, clinical, psychological, socio-demographic, dietary and lifestyle parameters were assessed in a random sample of 252 GG and 252 GA. Successful aging was evaluated using the validated successful aging index (SAI range 0-10). RESULTS: GA had better financial and educational status and scored higher in all social activity parameters (p's < 0.05). GA were more likely to be physically active (p < 0.001), had higher adherence to the Mediterranean diet (p < 0.001) and were less likely to be smoking (p = 0.008). Depression was more evident among GG compared to GA (p < 0.001). GA was aging significantly more successfully than GG (p < 0.001). Men irrespective of location were aging significantly more successfully than women (p < 0.05). CONCLUSION: Place of residence and personal choices significantly affect the level of healthy aging among people with similar genetic backgrounds.

[Childhood cancer in part of France: Key issues and organization of care in Corsica island]. / État des lieux des maladies onco-hématologiques pédiatriques en Corse et organisation des soins.

INTRODUCTION: In France, the management of pediatric cancers is carried out in reference hospitals that can delegate care to local health centres (LHC), forming "care networks". There is no LHC in Corsica, forcing children and their families to leave the island for all care in the reference centre. The aim of this study was to describe the situation in Corsica and to consider this organisation. METHODS: This is a descriptive preliminary study based on databases from the National Childhood Cancer Registry, "RHeOP" network and a patient questionnaire. We included over a period of 10 years all children with onco-hematological disease who resided in Corsica. RESULTS: The incidence of pediatric cancers since 2005 ranged from 5 to 12 new cases per year. The hospital centre of Timone (Marseille) was the reference centre for 73% of patients, followed by Nice University Hospital for 14%. Almost all the parents interviewed (90%) were in favour of creating an LHC and all of them highlighted many difficulties that, according to them, could be improved by the presence of a LHC in Corsica (organisation of travel, delay and distance from home…). However, there currently appears to be a lack of training for medical and paramedical staff to provide quality second-line care. CONCLUSION: The rates of pediatric onco-hematological diseases in Corsica may warrant the creation of an LHC on the island. Additional cost studies on the feasibility of an LHC in Corsica are needed to optimise the care and quality of life of these children and their families.

Leisure-time physical activity at moderate and high intensity is associated with parameters of body composition, muscle strength and sarcopenia in aged adults with obesity and metabolic syndrome from the PREDIMED-Plus study.

AIMS: We aimed to examine the associations of leisure-time physical activity (PA) and sedentary behavior (SB) with the prevalence of sarcopenia, body composition and muscle strength among older adults having overweight/obesity and metabolic syndrome, from the PREDIMED-Plus trial. METHODS: Cross-sectional baseline analysis including 1539 men and women (65 ± 5 y). Sarcopenia was defined as low muscle mass (according to FNIH cut-offs) plus low muscle strength (lowest sex-specific tertile for 30-s chair-stand test). We applied multivariable-adjusted Cox regression with robust variance and constant time (given the cross-sectional design) for the associations of self-reported leisure-time PA and SB with sarcopenia; and multivariable-linear regression for the associations with dual-energy X-ray absorptiometry (DXA)-derived bone mass, fat mass, lean mass and lower-limb muscle strength. RESULTS: Inverse associations were observed between sarcopenia and each hourly increment in total [prevalence ratio 0.81 (95% confidence interval, 0.70, 0.93)], moderate [0.80 (0.66, 0.97)], vigorous [0.51 (0.32, 0.84)], and moderate-vigorous PA (MVPA) [0.74 (0.62, 0.89)]. Incrementing 1-h/day total-PA and MVPA was inversely associated with body-mass-index, waist circumference (WC), fat mass, and positively associated with bone mass and lower-limb muscle strength (all P <.05). One h/day increase in total SB, screen-based SB and TV-viewing was positively associated with body-mass-index, WC and fat mass. Light-PA was not significantly associated with any outcome. CONCLUSIONS: Total-PA and PA at moderate and high intensities may protect against the prevalence of sarcopenia, have a beneficial role on body composition and prevent loss of muscle strength. SB, particularly TV-viewing, may have detrimental effects on body composition in older adults at high cardiovascular risk.

Iodine intake and chronic autoimmune thyroiditis: a comparative study between coastal and mainland regions in Greece.

INTRODUCTION: The purpose of this study was to evaluate the relationship between iodine intake and autoimmune thyroiditis in Chios, an island located in the North East Aegean Sea, in comparison to mainland regions in South Western Greece (SWG). MATERIALS AND METHODS: Urine iodine concentration (UIC), thyroid function (serum TSH, thyroid autoantibodies: anti-TPO and anti-Tg), and thyroid U/S were assessed in 200 subjects (150 females and 50 males) from Chios and 322 subjects (255 females and 67 males) from several mainland regions in SWG. All participants were recruited from outpatient clinics and were diagnosed as euthyroid. RESULTS: Median UIC in Chios was significantly higher compared to SWG (136.1 vs. 104.5 µg/L, p < 0.001), indicating that both regions are iodine sufficient according to World Health Organization (WHO) criteria. The prevalence of thyroid autoimmunity was 66.5% in Chios and 27% in SWG, significantly higher in females (46.7%) than in males (26.5%). Furthermore, individuals with increased levels of thyroid autoantibodies either anti-TPO or anti-Tg (TAbs) showed increased median UIC levels compared to those / subjects / patients with normal levels (126.7 vs. 108.95 µg/L, p < 0.001). Serum TSH mean values (mIU/L) were greater in females (mean = 2.1 ± 1.41) compared to males (mean = 1.82 ± 1.26) (p = 0.04) and decreased with age. CONCLUSIONS: In conclusion, in the present study, we clearly indicate that increased thyroid autoimmunity is positively associated with increased iodine intake, as well as with the female gender. Moreover, iodine intake and thyroid autoimmunity appear to be significantly higher in a coastal region (Chios) than in mainland Greece (SWG). Additional environmental factors, apart from iodine, should be investigated in future studies. Mean TSH values were increased in females and decreased with age. The latter is probably due to the presence of autonomous goiter in older Greek populations, as a result of long-term status of iodine deficiency in the past.

Inflammatory markers and metabolic syndrome among adolescents.

BACKGROUND/OBJECTIVES: The alarming increase in obesity worldwide is of concern, owing to the associations of obesity with metabolic syndrome (MetS), which has been associated with a proinflammatory state characterized by elevated plasma concentrations of several markers of inflammation. The aim of this study was to assess levels of inflammatory markers and their association with MetS among adolescents. SUBJECTS/METHODS: A random sample of adolescents (n=362, 143 boys and 219 girls, 12-17 years) was interviewed, anthropometrically measured and provided a fasting blood sample. Circulating levels of adiponectin, leptin, tumour necrosis factor-alpha, plasminogen activator inhibitor 1 (PAI-1), interleukin-6 and high-sensitivity C-reactive protein were measured. The association between inflammatory markers and sex, age, body mass index (BMI) status, MetS, physical activity and blood pressure was also calculated. RESULTS: Adiponectin levels are inversely associated and leptin levels are directly associated with MetS and BMI, but directly with gender (females show higher levels than boys), and PAI-1 levels are directly associated with MetS, among adolescents. CONCLUSIONS: Leptin, adiponectin and PAI-1 may be used as biomarkers to predict MetS among adolescents.

Assessment of exposure to drugs of abuse during pregnancy by hair analysis in a Mediterranean island.

AIMS: This study aims to estimate the prevalence of drug use by pregnant women living in Ibiza, using structured interviews and biomarkers in maternal hair. In addition, the potentially detrimental effects of maternal drug abuse on their newborns were investigated. Ibiza has a large international night-life resort associated with clubs, music and use of recreational drugs. DESIGN, SETTING AND PARTICIPANTS: Hair samples were collected prospectively from January to March 2010 from a cohort of consecutive mothers after giving birth in the Hospital Can Misses in Ibiza. MEASUREMENTS: Opiates, cocaine, cannabis, methadone, amphetamines, 3,4-methylenedioxymethamphetamine (MDMA) and their metabolites were detected in a 3-cm-long proximal segment of maternal hair corresponding to the last trimester of pregnancy by gas chromatography coupled to mass spectrometry (n = 107). Data on socio-demographic characteristics and on tobacco, alcohol, drugs of prescription and drugs of abuse consumption during pregnancy were collected using a structured questionnaire. FINDINGS: Hair analysis showed an overall 16% positivity for drugs of abuse in the third trimester of pregnancy, with a specific prevalence of cannabis, cocaine, MDMA and opiates use of 10.3, 6.4, 0.9 and 0%, respectively. In the questionnaires, only 1.9% of mothers declared using drugs of abuse during pregnancy. Gestational drug of abuse consumption was associated with active tobacco smoking, a higher number of smoked cigarettes and the mother being Spanish. CONCLUSIONS: Illicit drug use is substantially under-reported among pregnant women living in Ibiza, particularly among Spanish nationals. Voluntary, routine objective biological toxicology screening should be considered as part of routine examinations in antenatal clinics on this Mediterranean island.

Associations of energy intake and type 2 diabetes with hypertryglyceridemia in older adults living in the Mediterranean islands: the MEDIS study.

The aim of the present work was to evaluate the associations of bio-clinical, dietary, and other lifestyle characteristics with the prevalence of hypertriglyceridemia among older individuals living in the Mediterranean islands. Information was collected for an extensive array of demographic, bio-clinical, and dietary characteristics, including serum lipids, body weight and height, and food group and nutrient information derived from a food frequency questionnaire. Serum lipid analyses showed that 37% and 35% of males and females, respectively, had elevated triglyceride (TG) levels. After adjustment for a variety of potential confounders, including age, gender, hypertension, physical activity, smoking, and energy consumption, individuals with type 2 diabetes (T2D) had a 112% higher likelihood of hypertriglyceridemia (95% CI 1.28-3.51). When reported energy intake was quantified in tertiles of consumption, those in the highest tertile (i.e., intakes > 1300 kcal) had a 156% higher (p < 0.01) likelihood of having hypertriglyceridemia compared to the lowest tertile (i.e., <1000 kcal). Analysis by gender showed that energy intake did not predict hypertriglyceridemia in females (p = 0.31) or in those who were normal weight (p = 0.16) or overweight (p = 0.96). However, in males (odds ratio per 1 kcal = 1.001, 95% CI 1.000-1.002) and obese participants (odds ratio per 1 kcal = 1.001, 95% CI 1.000-1.002), excess energy consumption was associated with elevated TG. In conclusion, we found that a considerable proportion of the older adults living in the Mediterranean islands and participating in this study had elevated TG levels. Furthermore, the energy intake and a finding of T2D were positively associated with occurrence of hypertriglyceridemia.

Prevalence and risk factors for obesity in Balearic Islands adolescents.

The aim of this work was to assess the prevalence and risk factors of obesity in the Balearic Islands' adolescents. A cross-sectional nutritional survey was carried out in the Balearic Islands (2007-2008). A random sample (n 1231) of the adolescent population (12-17 year old) was interviewed. Anthropometric measurements, two non-consecutive 24 h recalls and a general questionnaire incorporating questions related to sociodemographic and lifestyle variables including the physical activity questionnaire were used. The prevalence of overweight was 19.9 % (boys) and 15.5 % (girls), and obesity 12.7 % (boys) and 8.5 % (girls). The main risk factors associated with a higher prevalence of obesity were low parental education level (boys OR: 3.47; 95 % CI: 1.58, 7.62; girls OR: 3.29; 95 % CI: 1.38, 7.89), to skip meals (boys OR: 4.99; 95 % CI: 2.1, 11.54; girls OR: 2.20; 95 % CI: 0.99, 4.89), age (12-13-year-old boys; OR: 2.75; 95 % CI: 1.14, 6.64), attention to mass media (television (TV)+radio; boys OR: 1.50; 95 % CI: 0.81, 2.84; girls OR: 2.06; 95 % CI: 0.91, 4.68), short sleep (boys OR: 3.42; 95 % CI: 0.88, 13.26), low parental socioeconomic status (girls OR: 3.24, 95% CI: 1.04, 10.05 ) and smoking (girls OR: 2.51; 95 % CI: 0.88, 7.13). A programme of action including school healthy education and promotion programmes targeted at parents and adolescents are needed. These programmes may be mainly focused to increase educational level, to make the adolescents to be aware of to skip meals and to smoke are not appropriate methods to reduce the risk of obesity, but the usefulness is to do not eat while watching TV, to sleep 8-10 h/d and to be physically active.

The 'secrets' of the long livers in Mediterranean islands: the MEDIS study.

BACKGROUND: The aim of the present work was to evaluate various socio-demographic, clinical, lifestyle and psychological characteristics of elderly (> 65 years) and very elderly (> 90 years) individuals without known cardiovascular disease. METHODS: During 2005-7, 1190 elderly (aged > 65) men and women (from Cyprus, Mitilini, Samothraki, Cephalonia, Crete, Lemnos, Corfu and Zakynthos) were randomly enrolled. Socio-demographic, clinical, psychological and lifestyle factors were assessed using standard questionnaires and procedures. RESULTS: From all islands, the proportion of males aged 65-80, 80-90 and > 90 years was 71.8, 24.8 and 3.4%, respectively. The proportion of women, for the same age categories, was 80.4, 17.9 and 1.7%, respectively. Walking and other activities significantly declined with age (P < 0.001); however, nearly one in five participants over the age of 90 years remained physically active. Current smoking significantly declined in males as age increased (P < 0.001). All participants above the age of 90 years reported sleeping at noon. The proportion of participants living alone differs significantly (P < 0.001) across the three age groups. However, considerably more women live alone (men vs. women living alone: aged 65-80 years 12 vs. 37%; 80-90 years 16 vs. 55%; > 90 years 52 vs. 55%). Dietary characteristics of The Mediterranean Islands Study (MEDIS) sample display a favourable adherence to dietary recommendations (Mediterranean diet). CONCLUSION: A favourable adherence to the Mediterranean diet, mid-day naps and smoking cessation with an increase in age was characteristic of our elderly population. Future research should further evaluate whether the aforementioned characteristics are associated with longevity beyond the average life expectancy.

Depressive symptomatology and the prevalence of cardiovascular risk factors among older men and women from Cyprus; the MEDIS (Mediterranean Islands Elderly) epidemiological study.

AIMS: The purpose of this paper is to explore the link between symptoms of depression and the prevalence of cardiovascular risk factors in older adults. METHODS: During 2005, 136 older men and 164 women from various parts of Cyprus agreed to participate in the study. The sampling was random and multistage (according to age-sex distribution of the referent population). All participants were living in the community and not in institutions. Among several socio-demographic, bioclinical, lifestyle and dietary characteristics, depressive symptoms were assessed using the short version of the Geriatric Depression Scale (GDS). RESULTS: Participants without signs of depression, typically, have fewer cardiovascular risk factors (i.e. hypertension, hypercholesterolemia, diabetes and obesity) than those with moderate or severe symptoms. Even when behavioural variables (e.g. diet, smoking, exercise) are statistically controlled, participants that are higher than others on depression are more likely to have hypertension and/or hypercholesterolemia than those with lower scores. Every one-unit increase in GDS score (range 0-15) is associated with a 12% higher likelihood of having an additional cardiovascular disease risk factor. CONCLUSIONS: Symptoms of depression are positively associated with the number of cardiovascular risk factors in 'healthy' older adults, irrespective of lifestyle behaviours (e.g. smoking, dietary intake and physical activity). RELEVANCE TO CLINICAL PRACTICE: Healthcare providers should consider the implications of both the presence and nature of this relationship in their continuing care of older adults.

Effects of black and green tea consumption on blood glucose levels in non-obese elderly men and women from Mediterranean Islands (MEDIS epidemiological study).

BACKGROUND: Obesity and diabetes are metabolic disorders that affect a large amount of the elderly population and are related to increased cardiovascular risk. Tea intake has been associated with lower risk of mortality and morbidity in some, but not all studies. We evaluated the association between tea intake, blood glucose levels, in a sample of elderly adults. METHODS: During 2005-2006, 300 men and women from Cyprus, 142 from Mitilini and 100 from Samothraki islands (aged 65-100 years) were enrolled. Dietary habits (including tea consumption) were assessed through a food frequency questionnaire. Among various factors, fasting blood glucose and body mass index (BMI) were measured. RESULTS: Fifty-four percent of the participants reported that they consume tea at least once a week (mean intake 1.6 +/- 1.1 cup/day). A significant interaction was observed between tea intake, obesity status on glucose levels (P < 0.001). After adjusting for various confounders, tea intake was associated with lower blood glucose levels in non-obese (P for trend <0.001), but not in obese people (P = 0.24). Multiple logistic regression analysis revealed that moderate tea consumption (1-2 cups/day) was associated with 88% (95% CI 76-98%) lower odds of having diabetes among non-obese participants, irrespective of age, sex, smoking, physical activity status, dietary habits and other clinical characteristics. CONCLUSION: Tea consumption is associated with reduced levels of fasting blood glucose only among non-obese elderly people.

Associations between sociodemographic and lifestyle factors and dietary quality among adolescents in Palma de Mallorca.

OBJECTIVE: We assessed associations between sociodemographic and lifestyle factors and dietary quality among adolescents. METHODS: Subjects were 445 adolescents (171 boys, 274 girls; 14 to 18 y old) selected from the Palma de Mallorca (Balearic Islands, Spain) school census (96% participation) using two-stage probability sampling. The study protocol included dietary intake by means of a validated semiquantitative food-frequency questionnaire; sociodemographic factors of sex, maternal level of education, parental occupational status, and maternal region of origin; physical activity; and body weight and height measurements. Body mass index was calculated and energy intake expressed as multiples of basal metabolic rate. RESULTS: Mean daily energy intakes were 12.9 MJ for boys and 12.0 MJ for girls. Boys showed a higher percentage of energy from carbohydrates but a lower percentage from proteins and fat than did girls (44.9 versus 41.6, 18.8 versus 19.8, and 36.3 versus 38.5, respectively). Dietary fiber intake was within the recommended levels. Mineral and vitamin intakes generally met their estimated needs, except for vitamins A and D, which covered less than two-thirds of the recommended intake. Maternal educational level was positively correlated with dietary mineral and vitamin intakes. A positive relation between physical activity and dietary intakes of carbohydrate and of mineral and vitamin was found. CONCLUSIONS: Maternal level of education and physical activity are associated to the quality of diet among adolescents in Palma de Mallorca.

Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin.

OBJECTIVES: The purpose of this study was to examine the genotype-phenotype relation with respect to penetrance, age and severity of expression, disease progression and prognosis in a recessively inherited arrhythmogenic right ventricular cardiomyopathy (ARVC). BACKGROUND: Naxos disease is a recessively inherited ARVC caused by a mutation in the gene encoding plakoglobin (cell adhesion protein) in which the cardiac phenotype is associated with palmoplantar keratoderma and woolly hair. METHODS: Twelve families with Naxos disease underwent cardiac and molecular genetic investigation. Serial cardiac assessment with annual resting 12-lead and 24-h ambulatory electrocardiogram (ECG) and two-dimensional echocardiography was performed during 1 to 16 years, median 7 +/- 6 years in all 78 surviving members. RESULTS: Twenty-eight surviving members were homozygous and 40 were heterozygous for the mutation. All adults who were homozygous (n = 26) fulfilled the diagnostic criteria for ARVC, the youngest by the age of 13 years. In eight who were heterozygous, minor ECG or echocardiographic abnormalities were observed. Of the 26 subjects who were affected homozygotes, 92% showed ECG abnormalities, 92% ventricular arrhythmias, 100% right ventricular structural alterations and 27% left ventricular involvement. During follow-up (10 +/- 6 years), 16 (62%) developed structural progression, 12 (46%) arrhythmic events and 7 (27%) heart failure. The annual disease-related and sudden death mortality was 3% and 2.3%, respectively. CONCLUSIONS: Autosomal recessive ARVC caused by a mutation in plakoglobin was 100% penetrant by adolescence. Affected subjects who were homozygous experienced progressive disease with adverse prognosis. A minority of subjects who were heterozygous showed minor ECG/echocardiographic changes, but clinically significant disease did not develop.

Oral mucosal lesions and risk habits among men in an Italian study population.

A randomly selected study population of 118 male subjects (> or = 40 years) living on the Mediterranean island of Pantelleria (southwest of Sicily, Italy) was examined for the presence of oral mucosal lesions, with particular emphasis on the early diagnosis of oral precancerous and cancerous lesions. The study population was interviewed for socioeconomic and behavioural information, and clinically examined using WHO criteria. The prevalence of oral mucosal lesions observed, and data obtained about oral hygiene, tobacco smoking, alcohol drinking and exposure to actinic radiation, were analysed. Alcohol drinking was the most common habit in the study population (73%), followed by tobacco smoking (58.5%, of whom 96% were cigarette smokers). Only 3% showed good oral hygiene and 25% were edentate. Oral lesions were observed in 81.3% of the study group, mainly coated tongue (51.4%), leukoplakia (13.8%), traumatic oral lesions (traumatic ulcers and frictional white lesions) in 9.2%, actinic cheilitis (4.6%), and squamous cell carcinoma in one case (0.9%). Statistically significant associations were found between the prevalence of coated tongue and tobacco smoking (P<0.0001), and between the prevalence of actinic cheilitis and tobacco smoking/alcohol drinking (P<0.05). Analysis of clinical and anamnestic data underlined the effective presence, in the population examined, of the behavioural risk factors for oral precancerous and cancerous lesions, and the lack of cultural motivation towards primary prevention activities, such as the elimination of risk habits.

Hereditary disorders in the Eastern Mediterranean Region.

Hereditary diseases and congenital malformations have been reported to affect 2-5% of all live births. Available evidence suggests that genetic disorders are equally important also in countries of the Eastern Mediterranean Region. Considerable achievements have been made over the last two decades in controlling communicable diseases in the region. Concurrently, there has been a mounting awareness of the increasing importance of hereditary disorders. Certain genetically determined diseases such as the haemoglobinopathies and enzymopathies are extremely common in the region and the need to initiate public health measures for their control is increasingly being recognized. The following factors may contribute to the elevated prevalence of genetically determined disorders: the high consanguinity rates; the high frequency of haemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency; the trend of continuing to bear children up to menopause; the general lack of public awareness about genetic diseases; and the dearth of genetic services in the region. These and some other related issues are discussed in detail in this review article.