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Objectives: To translate the functional index for hand osteoarthritis (FIHOA) into Italian and to evaluate its reliability and validity in Italian patients with hand osteoarthritis (HOA)., Methods: The original French FIHOA was translated into Italian according to the guidelines for cross-cultural adaptation and then administered to 72 outpatients with HOA, together with the visual analogue scale of pain (VAS), the Health Assessment Questionnaire (HAQ) and the Short Form Health Survey (SF-36). Test-retest reliability was verified by having all patients fill out the Italian version of FIHOA again 1 week later. Item-item analysis was performed. The Wilcoxon signed-rank test and Spearman's rank correlation coefficient were calculated to compare test and retest responses and to evaluate the degree of correlation. Internal consistency reliability was evaluated by Cronbach's alpha coefficient, and internal structure validity was appraised through factor analysis, also taking a varimax rotation into consideration. Construct validity was assessed by correlating FIHOA with other measures of functional impairment and pain using Spearman's rank correlation coefficient., Results: Internal consistency was high (Cronbach's α = 0.87). Test-retest reliability showed a Spearman's rho of 0.942 (p < 0.001). A significant correlation (p < 0.001) between FIHOA, VAS and HAQ and a significant negative correlation between FIHOA and SF-36 subscales were observed. FIHOA was confirmed to be a non-unidimensional scale, but in addition to the total score of the index, three subtotals of item scores were considered to provide better evaluations of finger functionality (items 3, 6, 8 and 10), wrist functionality (items 2 and 7) and hand strength (items 4 and 5) in single individuals., Conclusions: The Italian version of FIHOA is a reliable and valid instrument for evaluating functional disability in Italian-speaking HOA patients.

Human populations, along with those of many other species, are thought to have contracted into a number of refuge areas at the height of the last Ice Age. European populations are believed to be, to a large extent, the descendants of the inhabitants of these refugia, and some extant mtDNA lineages can be traced to refugia in Franco-Cantabria (haplogroups H1, H3, V, and U5b1), the Italian Peninsula (U5b3), and the East European Plain (U4 and U5a). Parts of the Near East, such as the Levant, were also continuously inhabited throughout the Last Glacial Maximum, but unlike western and eastern Europe, no archaeological or genetic evidence for Late Glacial expansions into Europe from the Near East has hitherto been discovered. Here we report, on the basis of an enlarged whole-genome mitochondrial database, that a substantial, perhaps predominant, signal from mitochondrial haplogroups J and T, previously thought to have spread primarily from the Near East into Europe with the Neolithic population, may in fact reflect dispersals during the Late Glacial period, ∼19-12 thousand years (ka) ago., (Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

With analyses of entire mitogenomes, studies of Native American mitochondrial DNA (MTDNA) variation have entered the final phase of phylogenetic refinement: the dissection of the founding haplogroups into clades that arose in America during and after human arrival and spread. Ages and geographic distributions of these clades could provide novel clues on the colonization processes of the different regions of the double continent. As for the Southern Cone of South America, this approach has recently allowed the identification of two local clades (D1g and D1j) whose age estimates agree with the dating of the earliest archaeological sites in South America, indicating that Paleo-Indians might have reached that region from Beringia in less than 2000 years. In this study, we sequenced 46 mitogenomes belonging to two additional clades, termed B2i2 (former B2l) and C1b13, which were recently identified on the basis of mtDNA control-region data and whose geographical distributions appear to be restricted to Chile and Argentina. We confirm that their mutational motifs most likely arose in the Southern Cone region. However, the age estimate for B2i2 and C1b13 (11-13,000 years) appears to be younger than those of other local clades. The difference could reflect the different evolutionary origins of the distinct South American-specific sub-haplogroups, with some being already present, at different times and locations, at the very front of the expansion wave in South America, and others originating later in situ, when the tribalization process had already begun. A delayed origin of a few thousand years in one of the locally derived populations, possibly in the central part of Chile, would have limited the geographical and ethnic diffusion of B2i2 and explain the present-day occurrence that appears to be mainly confined to the Tehuelche and Araucanian-speaking groups.

Knowledge of high resolution Y-chromosome haplogroup diversification within Iran provides important geographic context regarding the spread and compartmentalization of male lineages in the Middle East and southwestern Asia. At present, the Iranian population is characterized by an extraordinary mix of different ethnic groups speaking a variety of Indo-Iranian, Semitic and Turkic languages. Despite these features, only few studies have investigated the multiethnic components of the Iranian gene pool. In this survey 938 Iranian male DNAs belonging to 15 ethnic groups from 14 Iranian provinces were analyzed for 84 Y-chromosome biallelic markers and 10 STRs. The results show an autochthonous but non-homogeneous ancient background mainly composed by J2a sub-clades with different external contributions. The phylogeography of the main haplogroups allowed identifying post-glacial and Neolithic expansions toward western Eurasia but also recent movements towards the Iranian region from western Eurasia (R1b-L23), Central Asia (Q-M25), Asia Minor (J2a-M92) and southern Mesopotamia (J1-Page08). In spite of the presence of important geographic barriers (Zagros and Alborz mountain ranges, and the Dasht-e Kavir and Dash-e Lut deserts) which may have limited gene flow, AMOVA analysis revealed that language, in addition to geography, has played an important role in shaping the nowadays Iranian gene pool. Overall, this study provides a portrait of the Y-chromosomal variation in Iran, useful for depicting a more comprehensive history of the peoples of this area as well as for reconstructing ancient migration routes. In addition, our results evidence the important role of the Iranian plateau as source and recipient of gene flow between culturally and genetically distinct populations.

Recent analyses of mitochondrial genomes from Native Americans have brought the overall number of recognized maternal founding lineages from just four to a current count of 15. However, because of their relative low frequency, almost nothing is known for some of these lineages. This leaves a considerable void in understanding the events that led to the colonization of the Americas following the Last Glacial Maximum (LGM). In this study, we identified and completely sequenced 14 mitochondrial DNAs belonging to one extremely rare Native American lineage known as haplogroup C4c. Its age and geographical distribution raise the possibility that C4c marked the Paleo-Indian group(s) that entered North America from Beringia through the ice-free corridor between the Laurentide and Cordilleran ice sheets. The similarities in ages andgeographical distributions for C4c and the previously analyzed X2a lineage provide support to the scenario of a dual origin for Paleo-Indians. Taking into account that C4c is deeply rooted in the Asian portion of the mtDNA phylogeny and is indubitably of Asian origin, the finding that C4c and X2a are characterized by parallel genetic histories definitively dismisses the controversial hypothesis of an Atlantic glacial entry route into North America., (Copyright © 2011 Wiley Periodicals, Inc.)

Mitochondrial dysfunction has been implicated in rare and common forms of type 2 diabetes (T2DM). Additionally, rare mitochondrial DNA (mtDNA) mutations have been shown to be causal for T2DM pathogenesis. So far, many studies have investigated the possibility that mtDNA variation might affect the risk of T2DM, however, when found, haplogroup association has been rarely replicated, even in related populations, possibly due to an inadequate level of haplogroup resolution. Effects of mtDNA variation on diabetes complications have also been proposed. However, additional studies evaluating the mitochondrial role on both T2DM and related complications are badly needed. To test the hypothesis of a mitochondrial genome effect on diabetes and its complications, we genotyped the mtDNAs of 466 T2DM patients and 438 controls from a regional population of central Italy (Marche). Based on the most updated mtDNA phylogeny, all 904 samples were classified into 57 different mitochondrial sub-haplogroups, thus reaching an unprecedented level of resolution. We then evaluated whether the susceptibility of developing T2DM or its complications differed among the identified haplogroups, considering also the potential effects of phenotypical and clinical variables. MtDNA backgrounds, even when based on a refined haplogroup classification, do not appear to play a role in developing T2DM despite a possible protective effect for the common European haplogroup H1, which harbors the G3010A transition in the MTRNR2 gene. In contrast, our data indicate that different mitochondrial haplogroups are significantly associated with an increased risk of specific diabetes complications: H (the most frequent European haplogroup) with retinopathy, H3 with neuropathy, U3 with nephropathy, and V with renal failure.

Background: In the elderly persons, hemoglobin concentrations slightly below the lower limit of normal are common, but scant evidence is available on their relationship with significant health indicators. The objective of the present study was to cross-sectionally investigate the association of mild grade anemia with cognitive, functional, mood, and quality of life (QoL) variables in community-dwelling elderly persons., Methods: Among the 4,068 eligible individuals aged 65-84 years, all persons with mild anemia (n = 170) and a randomly selected sample of non-anemic controls (n = 547) were included in the study. Anemia was defined according to World Health Organization (WHO) criteria and mild grade anemia was defined as a hemoglobin concentration between 10.0 and 11.9 g/dL in women and between 10.0 and 12.9 g/dL in men. Cognition and functional status were assessed using measures of selective attention, episodic memory, cognitive flexibility and instrumental and basic activities of daily living. Mood and QoL were evaluated by means of the Geriatric Depression Scale-10, the Short-Form health survey (SF-12), and the Functional Assessment of Cancer Therapy-Anemia., Results: In univariate analyses, mild anemic elderly persons had significantly worse results on almost all cognitive, functional, mood, and QoL measures. In multivariable logistic regressions, after adjustment for a large number of demographic and clinical confounders, mild anemia remained significantly associated with measures of selective attention and disease-specific QoL (all fully adjusted p<.046). When the lower limit of normal hemoglobin concentration according to WHO criteria was raised to define anemia (+0.2 g/dL), differences between mild anemic and non anemic elderly persons tended to increase on almost every variable., Conclusions: Cross-sectionally, mild grade anemia was independently associated with worse selective attention performance and disease-specific QoL ratings.

Background: Describing the epidemiology of varicella is relevant to the development of specific prevention strategies and to building up of economic models evaluating the cost:efficiency ratios of these strategies., Aim: Our study was designed to describe the epidemiology of chickenpox among Italian children and to assess the resulting economic and health burden on the country., Methods: Thirty-nine Italian pediatricians participated in a sentinel network on pediatric infectious diseases representing a total pediatric population of 30 168 children. Each case of varicella observed from January through December, 1997, was recorded. Economic analysis was conducted from the societal point of view. All costs were broken down into two groups: direct and indirect costs., Results: A total of 1599 cases of varicella were reported among children 0 to 14 years old. There were 1266 primary cases (mean age, 4.5 +/- 2 years) and 333 secondary cases (mean age, 3.6 +/- 3.2 years). The global incidence of chickenpox was 51.01/1000/year. Complications were seen in 56 cases (3.5%). Drugs were prescribed in 672 cases. A group of adults (364 susceptible and 193 with uncertain status) were exposed to primary cases. Seventy (12.5%) were eventually infected among whom there were 4 pregnant women. For pediatric patients an average cost of $146.90 (250 400 lire) was estimated; this is largely accounted for by indirect costs., Conclusions: The epidemiology of varicella in Italy is consistent with that found in previous studies in industrialized countries. Severe complications did not occur in our population. We believe that the health arguments in favor of universal vaccination of children > 18 months of age do not differ in our own country from those of other industrialized nations. Our data could now be incorporated into pharmacoeconomic models to establish cost-efficient strategies for Italy.

In order to assess bilateral breast carcinoma (BBC) clinical findings, 19 BBC cases were enrolled in succession (1982-1993). Of these, 7 (1.6%) had synchronous breast carcinomas and 12 (2.7%) had metachronous breast carcinomas. The occurrence of BBC was of 4.3% of women with breast cancer. The median age of the patients was 63.7 years for synchronous cancers and 53.5% for metachronous. Synchronous carcinomas were found symmetrically located in 42.5% of cases and metachronous in 58.3%. The most frequent location was in the upper outer quadrant (UOQ): 50% in synchronous and 37.5% in metachronous. T1 was detected in 71 and 66% of cases in the second tumor, synchronous and metachronous respectively, and in 28 and 25% of cases in the first tumor, always synchronous and metachronous. The 71.4% of synchronous carcinomas and the 83.3% of metachronous carcinomas were represented by invasive ductal carcinoma (IDC). Between the first and the second metachronous carcinoma the free time interval ranged from 11 to 144 months (mean, 67 months). All the patients were treated by surgery and adjuvant therapy (RT, CT, HT) according to stage, to menopausal status and to receptor status. In synchronous carcinomas only 1 recurrence was recorded, while in metachronous carcinomas the recurrences were 5. The 5-year actuarial survival was of 100% in synchronous carcinomas and of 33% in metachronous carcinomas independently of stage, while the 5-year actuarial survival after the metachronous tumor was of 50%, if the free time interval was less than 3 years, and of 75%, if more.

The effect of orally administered Lysozyme (2 g per diem for 6-15 days) on serum immunoglobulins, C3 complement component, its C3A properdine activator and intestinal flora was studied in 45 subjects with acute viral hepatitis. Comparison of the data before and after treatment revealed a significant decrease in IgA, IgM and C3A and an equally significant increase in C3. Coproculture tests revealed important changes in many case in which one or more pathogenetic species (Enterobacter, Proteus, Citrobacter) had completely disappeared. The mechanisms used by Lysozyme in the modulation of immunological responses during viral hepatitis are discussed. These include reduction of the enteric antigen stimulus by inhibiting the growth of bacterial flora, the blocking of anti-complement factors and the modification of antibody response.

A clinical and epidemiological assessment of 1258 hospital patients in Piedmont in 1977-1979 showed that, at present, the frequency of hepatitis A and B can be regarded as virtually the same, that males are more frequently affected, that AVH A is more frequent in early life, whereas AVH B is significantly more common later, that urban areas are more frequently stricken than rural areas, that AVH A is more common in persons living in groups, whereas AVH B is more frequent among pensioners and the unemployed (the latter being primarily drug-addicts). Patients with AVH A, and hence a minor hepatitic involvement, had shorter hospital stays, while the immune response in both types of hepatitis is characterized by a more frequent increase in gamma-globulins, coupled with arise in IgM levels.

An epidemiological and clinical research on 48 cases of nonA-nonB hepatitis hospitalized in Alessandria, Infectious Diseases Department, from 1-1-1983 to 1-3-1984 is reported. NonA-nonB hepatitis formed 25% of full cases of viral hepatitis in the same period (192 cases); it was mainly related to hemotransfusion (33,3%) and drug addiction (29,2%); its chronic evolution was observed in the 37,5% of the cases.