Chest circumference and structural and short-term changes: a study of the Italian military call-up registers from 1881 to 1909.

The aim of this study is to demonstrate the utility of chest circumference measurements as a proxy for the socioeconomic characteristics of past populations. Our analysis is based on over 80,000 military medical examinations relating to Friuli (north-eastern Italy), recorded from 1881 to 1909. Chest circumference can be used to describe changes in standard of living, but also seasonal variations in food intakes and physical activities. The findings show the way in which these measurements are highly sensitive not only to long-term economic changes but, above all, to short-term variations in some economic and social elements, like corn prices and occupations.

Maternal nutritional status and offspring childlessness: Evidence from the late-nineteenth to early-twentieth centuries in a group of Italian populations.

The role of maternal nutrition in affecting offspring fertility, through alteration of foetal programming, has been demonstrated in animal-based experiments. However, results from human populations appear inconsistent and sometimes contradictory, likely because they have been based on single famine events. In this paper, we adopt a different approach. We combine official annual time series of daily nutrient availability with a sample of women's reproductive histories from the 1961 Italian Census to investigate the role of maternal nutritional status in pregnancy on offspring childlessness. The analysis therefore covers cohorts of females born between 1861 and 1939. Our results show a negative association between calorie availability in pregnancy and the odds of offspring childlessness, whereas no association is found between protein availability and offspring childlessness. The consequences of poor calorie intake were aggravated during the summer, likely due to the participation of pregnant women in physically demanding work.

Spanish flu in Italy: new data, new questions.

This paper proposes a new estimate for the number of victims of Spanish flu in Italy and highlights some aspects of mortality closely linked to the First World War. The sources used are official death statistics and the Albo d'oro, a roll of honor of the Italians fallen in the First World War. The new estimate of deaths from the flu is 410,000 for 1918, which should be raised to 466,000 when the numbers are taken up to 1920. Deaths from Spanish flu among the military were about 70,000. The time sequence of deaths recognizes two distinct peaks, one in October and one in November 1918. Between these two peaks, the lowest number of deaths falls in the week of the armistice between Italy and Austria-Hungary (signed 4 November 1918). This suggests links between Spanish flu and WWI that cannot be merely explained in terms of movement of people and contagion.

[Health maps of a historical population in nineteenth-century Friuli (Northeastern Italy)]. / Le mappe di salute di una popolazione storica prime indagini sul Friuli (XIX secolo).

This paper aims at presenting some health maps of a historical population. The studies on the health status of past populations are usually focused on the causes of death. Our purpose is to present some descriptive analyses on non-deadly diseases. The present work focuses on the province of Friuli (north-eastern Italy) in the second half of the nineteenth century. The used sources are military call-up records. We collected about 300,000 records relative to military recruitment that took place between 1866 and 1909 (birth cohorts 1846-1890). Our main concern was the health status of the 20-year male population, and its association with environmental, socio economic and genetic factors. Generally speaking, we observe that the northern mountain area was the most advantaged, while young adults from the eastern and western parts of the province were the most disadvantaged. A lot of factors and causes contributed to determine the spatial distribution of specific diseases in Friuli, whilst others remain unknown because simple descriptive analyses are not sufficient to highlight them all. In particular, the distribution of the thyroidal hypertrophy was almost certainly due to the water quality, while the distribution of dental caries was probably related to genetic and dietary factors.

Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.

BACKGROUND: About 20 % of hereditary breast cancers are caused by mutations in BRCA1 and BRCA2 genes. Since BRCA1 and BRCA2 mutations may be spread throughout the gene, genetic testing is usually performed by direct sequencing of entire coding regions. In some populations, especially if relatively isolated, a few number of recurrent mutations is reported, sometimes caused by founder effect. METHODS: BRCA1 and BRCA2 screening for mutations was carried out on 1114 breast and/or ovarian cancer patients complying with the eligibility criteria for BRCA testing. Haplotype analysis was performed on the probands carrying recurrent mutations and their relatives, using two sets of microsatellite markers covering the BRCA1 (D17S588, D17S806, D17S902, D17S1325, D17S855, D17S1328, D17S800, and D17S250) and BRCA2 (D13S220, D13S267, D13S171, D13S1701, D13S1698, D13S260, D13S290, D13S1246) loci. The DMLE + 2.2 software was used to estimate the age of BRCA1 c.676delT and BRCA2 c.7806-2A > G. A multiplex PCR and two different primer extension assays were optimized and used for genotyping the recurrent mutations of the two genes. RESULTS: In the time frame of almost 20 years of genetic testing, we have found that five BRCA1 and three BRCA2 mutations are recurrent in a substantial subset of carriers from North-East Italy and neighboring Istria, where they represent more than 50 % of all mutations. Microsatellite analyses identified a common haplotype of different length for each mutation. Age estimation of BRCA1 c.676delT and BRCA2 c.7806-2A > G mutations revealed that they arose in the Friuli Venezia Giulia area about 86 and 94 generations ago, respectively. Suggestion of an association between BRCA2 c.7806-2A > G and risk of breast cancer in males has emerged. Finally, we developed a simple and efficient pre-screening test, performing an in-house primer extension SNaPshot® assay for the rapid identification of the eight recurrent mutations. CONCLUSIONS: Proofs of common ancestry has been obtained for the eight recurrent mutations. The observed genotype-phenotype correlation and the proposed rapid mutation detection strategy could improve the clinical management of breast and ovarian patients in North-East of Italy and neighboring geographic areas.

Managing alcohol problems in general practice in Europe: results from the European ODHIN survey of general practitioners.

AIMS: To document the attitudes of general practitioners (GPs) from eight European countries to alcohol and alcohol problems and how these attitudes are associated with self-reported activity in managing patients with alcohol and alcohol problems. METHODS: A total of 2345 GPs were surveyed. The questionnaire included questions on the GP's demographics, reported education and training on alcohol, attitudes towards managing alcohol problems and self-reported estimates of numbers of patients managed for alcohol and alcohol problems during the previous year. RESULTS: The estimated mean number of patients managed for alcohol and alcohol problems during the previous year ranged from 5 to 21 across the eight countries. GPs who reported higher levels of education for alcohol problems and GPs who felt more secure in managing patients with such problems reported managing a higher number of patients. GPs who reported that doctors tended to have a disease model of alcohol problems and those who felt that drinking was a personal rather than a medical responsibility reported managing a lower number of patients. CONCLUSION: The extent of alcohol education and GPs' attitudes towards alcohol were associated with the reported number of patients managed. Thus, it is worth exploring the extent to which improved education, using pharmacotherapy in primary health care and a shift to personalized health care in which individual patients are facilitated to undertake their own assessment and management (individual responsibility) might increase the number of heavy drinkers who receive feedback on their drinking and support to reduce their drinking.

[Sense of coherence and cardiovascular risk: an observational study]. / Senso di coerenza e rischio cardiovascolare: uno studio osservazionale.

The aim of this study was to analyze possible existing correlations among the three dimensions of the sense of coherence (SOC), as a psychosocial risk factor, and some other cardiovascular risk factors in a group of primary care patients. Seventy-one persons at high cardiovascular risk were identified by their general practitioners and invited to answer the 13 questions included in the Antonovsky's SOC questionnaire. Psychosocial risk evaluation, performed with SOC analysis, may provide an important added value in the identification of behavioral changes and cardiovascular risk reduction.

Height, socioeconomic status and marriage in Italy around 1900.

This study examines the role of height in the process of mate selection in two Italian populations at the turn of the twentieth century, Alghero, in the province of Sassari, and Treppo Carnico, in the province of Udine. Based on a linkage between military registers and marriage certificates, this study reveals a negative selection of short men on marriage and a differential effect of tallness by population in the process of mate choice. These findings emerge once SES is taken into account in the risk models of marriage.

MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.

MUTYH variants are differently distributed in geographical areas of the world. In MUTYH-associated polyposis (MAP) patients from North-Eastern Italy, c.933+3A>C (IVS10+3A>C), a transversion causing an aberrant splicing process, accounts for nearly 1/5 of all mutations. The aim of this study was to verify whether its high frequency in North-Eastern Italy is due to a founder effect and to clarify its impact on MUTYH transcripts and protein. Haplotype analysis and age estimate performed on members of eleven Italian MAP families and cancer-free controls provided evidence that c.933+3A>C is a founder mutation originated about 83 generations ago. In addition, the Italian haplotype associated with the c.933+3A>C was also found in German families segregating the same mutation, indicating it had a common origin in Western Europe. Altogether c.933+3A>C and the two common Caucasian mutations p.Tyr179Cys and p.Gly396Asp represent about 60% of MUTYH alterations in MAP patients from North-Eastern Italy, suggesting the opportunity to perform targeted molecular screening for these variants in the diagnostic setting. Expression analyses performed on lymphoblastoid cell lines supported the notion that MUTYH c.933+3A>C alters splicing causing the synthesis of a non functional protein. However, some primary transcripts escape aberrant splicing, producing traces of full-length transcript and wild-type protein in a homozygote; this is in agreement with clinical findings that suggest a relatively mild phenotypic effect for this mutation. Overall, these data, that demonstrate a founder effect and further elucidate the splicing alterations caused by the MUTYH c.933+3A>C mutation, have important implications for genetic counseling and molecular diagnosis of MAP.

Determinants of territorial exogamy in Friuli (north-east Italy) in the second half of the nineteenth century.

The aim of this study was to identify the characteristics of individuals who formed exogamic marriages in the Friuli region (north-east Italy) during the second half of the 19th century. Logistic regression models were devised to measure the influence of the determinants of exogamic marriage, taking into account not only variables related to context but also spouses' economic, social and cultural characteristics. The determinants of exogamic marriage differ for men and women, and also vary by region due to differences in geographical mobility and size of the marriage market. The majority of exogamic spouses belong to one of two categories: either older individuals, often, especially in the case of men, with a previous marriage; or the upper social classes.