Epidemiological shift of glucose-6-phosphate dehydrogenase mutations in northern Italy in the last 15 years.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive hemolytic anemia caused by mutations in G6PD gene. The distribution and frequency of genetic variants differ depending on ethnicity and geographical areas. Because of new migrations different variants are now present in Europe. This retrospective study aims to identify variants among the G6PD deficient subjects referred since 2004 to IRCCS Ca' Granda Foundation Hospital in Milan. The subjects were divided into 3 groups: group 1 (2004-2008), group 2 (2009-2013), and group 3 (2014-2018). During 15 years a significant decrease of the Mediterranean and an important increase of the African, Asian, and uncommon variants (classified as Others) have been observed. Three new mutations were found: in group 2 heterozygosity for c.[1454G > A] (Gly485Asp) in an adult female with severe anemia, high bilirubin levels and G6PD activity of 0,69 (IU/gHb) and heterozygosity for c.[584A > G] (Gln195Arg) in an elderly woman of Italian origin showing only anemia and enzymatic activity of 1,54 (IU/gHb) were detected. In group 3 hemizygosity for c.[670A > T] (Ile224Phe) in an adult Chinese man without anemia but with total absence of G6PD activity was found. These data reflect the appearance of uncommon G6PD mutations in northern Italy, probably due to new migrations, as consequence G6PD characterization becomes a diagnostic issue.

Exploring the Western Mediterranean through X-chromosome.

In this study, we investigate the forensic and population genetics properties of 21 X-chromosome markers (9 X-Alu insertions and 12 X-STRs) in a dataset composed of 716 individuals from 11 Western Mediterranean populations. The high values of combined forensic parameters indicate that this 21 X-loci panel can complement autosomal or uniparental markers in kinship analysis and complex deficient paternity testing in the populations studied. Population analyses revealed a lower differentiation between Western Mediterranean human groups for X-STRs than for X-Alu insertion polymorphisms. Moreover, X-chromosome markers suggest a sex-biased migration rate, confirming the predominance of patrilocality in this area.

Screening program for latent tuberculosis infection in asylum seekers - a single center experience in Pavia, Italy.

BACKGROUND: The management of Latent Tuberculosis Infection is crucial in fighting Tuberculosis worldwide, and particularly in low incidence European Countries. While guidelines for the management of Tuberculosis in newly arrived immigrants have been issued by the European Center for Disease Control and Prevention and by the National Health Authorities in Italy, these are not widely implemented yet at local level. STUDY DESIGN: We report our program for the screening of Latent Tuberculosis Infection and active Tuberculosis in asylum seekers, jointly implemented by Public Health Authorities and the Infectious Diseases Department of a tertiary care, teaching hospital in Northern Italy. METHODS: We reviewed records of the asylum seekers who were screened at our center via Tuberculin Skin Test and/or Interferon Gamma Release Assay plus chest X-ray and either treated with Isoniazid Preventive Treatment or for active Tuberculosis Disease in case of positive results. RESULTS: We screened 726 migrants, mostly males (97.3%) and from Sub-Saharan Africa (82.2%) and found a high adherence rate for both screening (98.2%) and Isoniazid Preventive Treatment (90.1%). In addition, we found seven cases of active Tuberculosis. CONCLUSIONS: Latent Tuberculosis Infection screening and treatment proved feasible in our program, which should be systematically implemented in asylum seekers reaching Europe.

Genetic polymorphisms of blood donors in Algeria through blood groups ABO, RH, and Kell.

Our study included 2465 blood donors unrelated from both sexes, originating from Msila (Algeria), at Msila Blood Transfusion Center (CTS), with the aim of performing an anthropogenetic characterization of the population of M'sila, by studying the three-erythrocyte polymorphic systems ABO, Rhesus, and Kell with their allele frequencies. This allowed us to demonstrate after a multi-varied comparative analysis through principal components analysis (PCA) and hierarchical cluster analysis (HCA) On the one hand, comparing the population of Msila to the different regions of Algeria where we found a genetic proximity with the great south of Algeria going towards the south-east of Algeria. On the other hand, the comparative analysis of Msila's population with other populations in the world based on historical, geographical and cultural profile, by building a tri-hybrid potential parenting model (North Africa, Mediterranean and Middle orient) through the three blood systems, allowed us to identify four potential parents including Egypt and Libya (North Africa) and Saudi Arabia and South Yemen (Middle East), Regarding the third strand of our tri-hybrid model, we did not find any potential parental link with the northern shore of the Mediterranean (southern Europe) despite the historical and geographical link that exists. This study allowed us to share the map of Algeria genetically into two blocks: a North block and a South block. It also allowed us to trace a retrograde genetic route through the time of the M'sila population, thus determining these potential parental origins.

Migrant Workers from the Eastern-Mediterranean Region and Occupational Injuries: A Retrospective Database-Based Analysis from North-Eastern Italy.

The month of Ramadan is the ninth month of the Islamic lunar calendar, and, according to the Islamic tradition, it coincides with the month when the Noble Koran/Qur'an began to be revealed. In recent years, concerns about the potentially negative health effects of Ramadan fasting and the risks of work-related injuries have increased in Western European (EURO) countries. In the present study, we performed a retrospective database-based analysis assessing the impact of Ramadan fasting on occupational injuries (OIs) in North-Eastern Italy among migrant workers from the Eastern-Mediterranean Region (EMRO). Our results suggest that EMRO workers exhibit a significantly increased risk for OIs during Ramadan in periods characterized by heat-waves, while their frequency was somehow reduced for days associated with Ramadan characterized by increased but not extreme temperatures. However, these results may be attributable to an explanatory causation in the specific differences between EMRO and EURO workers in the job tasks performed at the workplace. Not coincidentally, no significant differences were found regarding industrial settings, mechanisms of OIs and final prognosis. Despite the obvious practical implications for health decision- and policy-makers, due to the limitations of the present investigation, further studies are warranted.

A priori-defined Mediterranean-like dietary pattern predicts cardiovascular events better in north Europe than in Mediterranean countries.

BACKGROUND: The Mediterranean Diet (MD) is a model of healthy eating contributing to a favorable health status, but its clinical usefulness is still debated. The aim of this study was to relate the adherence to MD with the incidence of cardio/cerebro-vascular events (VEs) in north and south European participants of the IMPROVE study. METHODS: IMPROVE is an observational, longitudinal, prospective cohort study involving 3703 individuals from five European countries (Finland, Sweden, Netherlands, France and Italy). The study end-point was the incidence of the first combined cardio/cerebro-vascular event occurring during 36-months follow-up. At baseline, a dietary questionnaire about the usual intake during the year preceding enrollment was administered. Based on 7 nutritional items, a MD Score was constructed in which minimal adherence was 0 and maximal adherence was 7. RESULTS: Latitude was the strongest determinant of MD score (p < 0.001). VEs occurred in 215 participants. The incidence of VEs was the highest in subjects with MD score 0-1, lower in those with score 2-3 and the lowest in those with score ≥ 4. MD score remained significantly associated with subsequent VEs after adjustment for confounders (hazard ratio for one-point increment of the score = 0.75, p < 0.001) and the association was stronger in northern than in southern countries (p = 0.04 for MD Score × latitude interaction). CONCLUSIONS: The MD adherence score based on a simple dietary questionnaire detects changes of risk of VEs. According to our findings north Europeans appear to benefit most from VE-prevention when their diet is altered to the MD diet.

New trend in the epidemiology of thalassaemia.

Thalassaemia is the most common monogenic disorder worldwide. It is common in areas with prevalent malaria as thalassaemic red cells provide immunity against the parasite. The incidence of thalassaemia carriers is high in regions such as Mediterranean, Middle East, Indian subcontinent, Southeast Asia and South China. In the past few decades, migrants from the thalassaemia prevalent countries to non-prevalent countries, mainly North America and Central and North Europe, are rapidly increasing in number. The non-prevalent countries may not have established pre-natal screening system for thalassaemia. The genetic subtypes among the different ethnic groups vary; this may pose challenges in prenatal diagnosis. Genetic counselling on the postnatal course of thalassaemia may be affected by the genotype-phenotype correlation and coinheritance of other genetic diseases. New treatment methods improve the survival of patient with thalassaemia major, but some late complications that occur with longer survival have been recently discovered.

Impact of ethnicity on mood disorders in Parkinson's disease.

Anxiety and depression are common in Parkinson's disease (PD) patients, yet their prevalence and severity compared to individuals without PD requires more research. Moreover, it has never been compared across different ethnic groups. The objective of this study was to close that gap in the literature by exploring the caseness and severity of anxiety and depression in PD patients of different ethnicities compared to controls without PD. It was found that caseness and severity of anxiety and depression are higher in individuals with PD compared to controls. Furthermore, the caseness and severity of anxiety and depression do not vary significantly among ethnic groups. Finally, depression caseness was not predicted by age, gender, disease duration, restless legs syndrome prevalence, Hoehn and Yahr (H&Y) score nor Unified Parkinson's disease rating scale part III (UPDRS-III) score. Anxiety caseness was predicted by gender, with females 2.7 times more likely to have anxiety caseness than males. Overall, our study suggests that treatment plans should be individualized based on prevalence and severity of the two conditions in individuals with PD rather than generalize treatment for specific ethnic groups.

Waterpipe Tobacco Smoking Prevalence and Correlates in 25 Eastern Mediterranean and Eastern European Countries: Cross-Sectional Analysis of the Global Youth Tobacco Survey.

INTRODUCTION: Waterpipe tobacco smoking is highly prevalent among young people in some settings. There is an absence of nationally representative prevalence studies of waterpipe tobacco use and dual use with other tobacco products in young people. METHODS: We conducted a secondary analysis of the Global Youth Tobacco Survey, a nationally representative cross-sectional study of students aged 13-15 years. Of 180 participating countries, 25 included optional waterpipe tobacco smoking questions: 15 Eastern Mediterranean and 10 Eastern European countries. We calculated the prevalence of current (past 30-day) waterpipe tobacco use, including dual waterpipe and other tobacco use, and used logistic regression models to identify sociodemographic correlates of waterpipe tobacco smoking. Individual country results were combined in a random effects meta-analysis. RESULTS: Waterpipe tobacco smoking prevalence was highest in Lebanon (36.9%), the West Bank (32.7%) and parts of Eastern Europe (Latvia 22.7%, the Czech Republic 22.1%, Estonia 21.9%). These countries also recorded greater than 10% prevalence of dual waterpipe and cigarette use. In a meta-analysis, higher odds of waterpipe tobacco smoking were found among males (Adjusted odds ratio [AOR] = 1.37, 95% confidence interval [CI] = 1.18% to 1.59%), cigarette users (AOR = 6.95, 95% CI = 5.74% to 8.42%), those whose parents (AOR = 1.54, 95% CI = 1.31% to 1.82%) or peers smoked (AOR = 3.53, 95% CI = 2.97% to 4.20%) and those whose parents had higher educational attainment (Father, AOR = 1.47, 95% CI = 1.14% to 1.89%; Mother, AOR = 1.62, 95% CI = 1.07% to 2.46%). We report on regional- and country income-level differences. CONCLUSIONS: Waterpipe tobacco smoking, including dual waterpipe and cigarette use, is alarmingly high in several Eastern Mediterranean and Eastern European countries. Ongoing waterpipe tobacco smoking surveillance is warranted.

HLA Class I and Class II Alleles and Haplotypes Confirm the Berber Origin of the Present Day Tunisian Population.

In view of its distinct geographical location and relatively small area, Tunisia witnessed the presence of many civilizations and ethnic groups throughout history, thereby questioning the origin of present-day Tunisian population. We investigated HLA class I and class II gene profiles in Tunisians, and compared this profile with those of Mediterranean and Sub-Sahara African populations. A total of 376 unrelated Tunisian individuals of both genders were genotyped for HLA class I (A, B) and class II (DRB1, DQB1), using reverse dot-blot hybridization (PCR-SSO) method. Statistical analysis was performed using Arlequin software. Phylogenetic trees were constructed by DISPAN software, and correspondence analysis was carried out by VISTA software. One hundred fifty-three HLA alleles were identified in the studied sample, which comprised 41, 50, 40 and 22 alleles at HLA-A,-B,-DRB1 and -DQB1 loci, respectively. The most frequent alleles were HLA-A*02:01 (16.76%), HLA-B*44:02/03 (17.82%), HLA-DRB1*07:01 (19.02%), and HLA-DQB1*03:01 (17.95%). Four-locus haplotype analysis identified HLA-A*02:01-B*50:01-DRB1*07:01-DQB1*02:02 (2.2%) as the common haplotype in Tunisians. Compared to other nearby populations, Tunisians appear to be genetically related to Western Mediterranean population, in particular North Africans and Berbers. In conclusion, HLA genotype results indicate that Tunisians are related to present-day North Africans, Berbers and to Iberians, but not to Eastern Arabs (Palestinians, Jordanians and Lebanese). This suggests that the genetic contribution of Arab invasion of 7th-11th century A.D. had little impact of the North African gene pool.

Ethnopedology in the study of toponyms connected to the indigenous knowledge on soil resource.

In taking an integrated ethnopedological approach, this study aims to investigate the meaning of the distribution of the toponyms used in traditional and recent cartography of Sardinia (southern Italy). It is particularly, but not only, focused on those related to soil resources. Sardinia is particularly interesting in this respect, as its unique history, geography, and linguistic position makes it one of the Italian and Mediterranean regions with the greatest number of toponyms. This research investigated the toponyms belonging to an important sub-region of Sardinia, called Ogliastra (central-eastern Sardinia). The research was conducted through the following integrated approach: i) toponymy research and collection from different sources; ii) database creation and translation of toponyms from the Sardinian language (SL); iii) categorization of toponyms; and iv) graphical, statistical, and cartographic data processing. Distribution and diversity of toponyms were assessed using the compiled database, coupled with a geographical information system (GIS). Of around 7700 toponyms collected, 79% had already been reported in SL, while just 21% were in Italian. Of the toponyms in SL, 77% are of known meaning and 54% of these toponyms were characterized by a meaning directly and/or indirectly connected to specific environmental features. On the whole, morphology would appear to be the primary environmental factor able to explain the complex, articulated presence, distribution, and typology of the investigated toponyms. A least squares regression analysis of pedodiversity vs. topodiversity shows a very closed distribution, with an impressive high correlation index (R2 = 0.824). The principal factor analysis (PFA) shows that such a connection may be morphologically based, thereby confirming that pedodiversity and topodiversity are strongly linked each other. Overall, the research shows that an integrated ethnopedological approach, combining indigenous and scientific knowledge may be of great interest in order to mitigate the impressive phenomena of the indigenous knowledge lost.

The ERICE-score: the new native cardiovascular score for the low-risk and aged Mediterranean population of Spain.

INTRODUCTION AND OBJECTIVES: In Spain, data based on large population-based cohorts adequate to provide an accurate prediction of cardiovascular risk have been scarce. Thus, calibration of the EuroSCORE and Framingham scores has been proposed and done for our population. The aim was to develop a native risk prediction score to accurately estimate the individual cardiovascular risk in the Spanish population. METHODS: Seven Spanish population-based cohorts including middle-aged and elderly participants were assembled. There were 11800 people (6387 women) representing 107915 person-years of follow-up. A total of 1214 cardiovascular events were identified, of which 633 were fatal. Cox regression analyses were conducted to examine the contributions of the different variables to the 10-year total cardiovascular risk. RESULTS: Age was the strongest cardiovascular risk factor. High systolic blood pressure, diabetes mellitus and smoking were strong predictive factors. The contribution of serum total cholesterol was small. Antihypertensive treatment also had a significant impact on cardiovascular risk, greater in men than in women. The model showed a good discriminative power (C-statistic=0.789 in men and C=0.816 in women). Ten-year risk estimations are displayed graphically in risk charts separately for men and women. CONCLUSIONS: The ERICE is a new native cardiovascular risk score for the Spanish population derived from the background and contemporaneous risk of several Spanish cohorts. The ERICE score offers the direct and reliable estimation of total cardiovascular risk, taking in consideration the effect of diabetes mellitus and cardiovascular risk factor management. The ERICE score is a practical and useful tool for clinicians to estimate the total individual cardiovascular risk in Spain.

Obstetrician-gynecologists' knowledge of sickle cell disease screening and management.

BACKGROUND: Although obstetrician/gynecologists (OB/GYNs) play an important role in sickle cell disease (SCD) screening and patient care, there is little information on knowledge of SCD or sickle cell trait (SCT) or related practices in this provider group. Our objective was to assess SCD screening and prenatal management practices among OB/GYNs. METHODS: Twelve hundred Fellows and Junior Fellows of the American College of Obstetricians and Gynecologists (the College)a were invited to complete a mailed survey, of which half (n = 600) belonged to the Collaborative Ambulatory Research Network.b Participants answered questions regarding appropriate target patient groups for prenatal SCD screening, folic acid requirements, practice behaviors and adequacy of their medical school and residency training. RESULTS: A total of 338 CARN members (56.3%) and 165 non-CARN members (27.5%) returned a survey. Of the 503 responders, 382 provided obstetric services and were included in the analyses. Forty percent of these respondents (n = 153) reported seeing at least 1 patient with SCD in the last year. Of these, 97.4% reported regularly screening people of African descent for SCD or SCT, whereas 52.9% reported regularly screening people of Mediterranean descent and 30.1% reported regularly screening people of Asian descent. Only 56.2% knew the correct recommended daily dose of folic acid for pregnant women with SCD. The proportion of respondents that rated training on SCD screening, assessment and treatment as barely adequate or inadequate ranged from 19.7% to 39.3%. CONCLUSIONS: The practice of many OB/GYNs who care for patients with SCD are not consistent with the College Practice Guidelines on the screening of certain target groups and on folic acid supplementation. There may be an opportunity to improve this knowledge gap through enhanced medical education.

Ankle-brachial index and the incidence of cardiovascular events in the Mediterranean low cardiovascular risk population ARTPER cohort.

BACKGROUND: Peripheral arterial disease (PAD) of the lower limbs is a cardiovascular disease highly prevalent particularly in the asymptomatic form. Its prevalence starts to be a concern in low coronary risk countries like Spain. Few studies have analyzed the relationship between ankle-brachial index (ABI) and cardiovascular morbi-mortality in low cardiovascular risk countries like Spain where we observe significant low incidence of ischemic heart diseases together with high prevalence of cardiovascular risk factors. The objective of this study is to determine the relationship between pathological ABI and incidence of cardiovascular events (coronary disease, cerebrovascular disease, symptomatic aneurism of abdominal aorta, vascular surgery) and death in the >49 year population-based cohort in Spain (ARTPER). METHODS: Baseline ABI was measured in 3,786 randomly selected patients from 28 Primary Health Centers in Barcelona, distributed as: ABI<0.9 peripheral arterial disease (PAD), ABI ≥1.4 arterial calcification (AC), ABI 0.9-1.4 healthy; and followed during 4 years. RESULTS: 3,307 subjects were included after excluding those with previous vascular events. Subjects with abnormal ABI were older with higher proportion of men, smokers and diabetics. 260 people presented cardiovascular events (incidence 2,117/100,000 person-years) and 124 died from any cause (incidence 978/100,000 person-years). PAD had two-fold greater risk of coronary disease (adjusted hazard ratio (HR) = 2.0, 95% confidence interval (CI) 1.3-3.2) and increased risk of vascular surgery (HR = 5.6, 95%CI 2.8-11.5) and mortality (HR = 1.8, 95%CI 1.4-2.5). AC increased twice risk of cerebrovascular events (HR = 1.9, 95%CI 1.0-3.5) with no relationship with ischemic heart disease. CONCLUSIONS: PAD increases coronary disease risk and AC cerebrovascular disease risk in low cardiovascular risk Mediterranean population. ABI could be a useful tool to detect patients at risk in Primary Health Care.

Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.

BACKGROUND: Cutaneous melanoma tumour is classified into clinicohistopathological subtypes that may be associated with different genetic and host factors. Variation in the MC1R gene is one of the main factors of risk variation in sporadic melanoma. The relationship between MC1R variants and the risk of developing a specific subtype of melanoma has not been previously explored. OBJECTIVES: To analyse whether certain MC1R variants are associated with particular melanoma subtypes with specific clinicohistopathological features. METHODS: An association study was performed between MC1R gene variants and clinicopathological subtypes of primary melanoma derived from 1679 patients. RESULTS: We detected 53 MC1R variants (11 synonymous and 42 nonsynonymous). Recurrent nonsynonymous variants were p.V60L (30·0%), p.V92M (11·7%), p.D294H (9·4%), p.R151C (8·8%), p.R160W (6·2%), p.R163Q (4·2%) p.R142H (3·3%), p.I155T (3·8%), p.V122M (1·5%) and p.D84E (1·0%). Melanoma subtypes showed differences in the total number of MC1R variants (P = 0·028) and the number of red hair colour variants (P = 0·035). Furthermore, an association between p.R163Q and lentigo maligna melanoma was detected under a dominant model of heritance (odds ratio 2·16, 95% confidence interval 1·07-4·37; P = 0·044). No association was found between p.R163Q and Fitzpatrick skin phototype, eye colour or skin colour, indicating that the association was independent of the role of MC1R in pigmentation. No association was observed between MC1R polymorphisms and other melanoma subtypes. CONCLUSIONS: Our findings suggest that certain MC1R variants could increase melanoma risk due to their impact on pathways other than pigmentation, and may therefore be linked to specific melanoma subtypes.

Ethnic disparities in perinatal mortality at 40 and 41 weeks of gestation.

OBJECTIVE: To evaluate whether maternal ethnicity affects perinatal mortality by week of gestation from 39 weeks onwards. STUDY DESIGN: In this cohort study, we used data from the nationwide Netherlands Perinatal Registry from 1999 until 2008. All singleton infants born between 39+0 and 42+6 weeks of gestation without congenital anomalies were included. We used crude and multivariate logistic regression analyses with white Europeans as the reference to calculate the adjusted odds ratios (aOR) of South Asian, African and Mediterranean women. The main outcome measure was perinatal mortality (antepartum and intrapartum/neonatal mortality within 7 days after birth). RESULTS: We studied 1,092,255 singleton deliveries. Perinatal mortality occurred in 2315 infants (2.1‰). There was interaction between gestational age and ethnicity (P<0.0001). In week 40 (40+0-40+6) South Asian (aOR 1.9; 95% CI 1.1-3.4) and Mediterranean (aOR 1.3; 95% CI 1.04-1.7) women had an increased risk of perinatal mortality. The perinatal mortality risk became greater in week 41 for South Asian (aOR 4.5 95% CI 2.8-7.2), African (aOR 2.2; 95%CI 1.4-3.4) and Mediterranean (aOR 2.2; 95% CI 1.8-2.9) women, especially among small for gestational age infants. CONCLUSION: With increasing gestational age beyond 39 weeks, perinatal mortality risk increases more strongly among South Asian, African and Mediterranean women compared to European whites.