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Background and aim The application of laparoscopy in elderly patients with gastric cancer is controversial, especially in Western population. The aim of the study is to evaluate the feasibility of a laparoscopic approach and compare short-term outcomes with results obtained using traditional open surgery. Methods Data concerning 52 elderly patients (≥70 years), who underwent distal gastrectomy at our institution from January 2017 to August 2020, were retrospectively analyzed. We divided the population into two cohorts according to the surgical technique (laparoscopic or open surgery) and we compared the short-term outcomes. The open and laparoscopic cohorts were compared in terms of demographics, ASA score, pTNM stage, the pathological pattern according to Lauren classification, time of surgery, selected type of gastrointestinal reconstruction, the extension of lymphadenectomy and number of lymph nodes resected, postoperative complications classified according to modified Clavien-Dindo system, length of stay (LOS), postoperative mortality within 30 days. Univariate and multivariate analyses were performed for length of stay, including age, sex, duration of surgery, BMI, technique, tumor localization, grading, reconstruction, ASA, Lauren stage, extension of lymphadenectomy, TNM stage, and neoadjuvant chemotherapy as variables. Results Demographics, pathological characteristics and surgical outcomes were comparable in both cohorts, except for the length of hospital stay (LOS) that was significative longer in the open cohort (12,31 vs 8,42 P = 0.02). Number of harvested lymph nodes and complete resection (R0) rate were similar, leading to comparable oncological results. Based on the univariate analysis, in addition to the approach, ASA score was another factor significantly associated to LOS (ASA 2 8,4 ± 2,1 days vs ASA 3 13,5 ± 7,8 days). A multiple regression was run to predict LOS from ASA and surgical approach. The multiple regression model statistically significantly predicted LOS, F(3,44) = 6,906, P Conclusion Laparoscopic distal gastrectomy is effective and safe in elderly patients with similar short-term outcomes compared to open distal gastrectomy. The main advantage of laparoscopic technique is a shorter length of hospital stay.

The incidence of endometriosis in middle-aged women is not minimal compared to that in the reproductive age group. The treatment of affected women after childbearing age to the natural transition toward menopause has received considerably poor attention. Disease management is problematic for these women due to increased contraindications regarding hormonal treatment and the possibility for malignant transformation, considering the increased cancer risk in patients with a long-standing history of the disease. This state-of-the-art review aims for the first time to assess the benefits of the available therapies to help guide treatment decisions for the care of endometriosis in women approaching menopause. Progestins are proven effective in reducing pain and should be preferred in these women. According to the international guidelines that lack precise recommendations, hysterectomy with bilateral salpingo-oophorectomy should be the definitive therapy in women who have completed their reproductive arc, if medical therapy has failed. Strict surveillance or surgery with removal of affected gonads should be considered in cases of long-standing or recurrent endometriomas, especially in the presence of modifications of ultrasonographic cyst patterns. Although rare, malignant transformation of various tissues in endometriosis patients has been described, and management is herein discussed.

Graphical abstractDisplay Omitted HighlightsInterface barriers for electrons at Al2O3/metal interfaces can be controlled by liners.Tantalum and titanium liners allow for >1eV barrier lowering at Cu/Al2O3 interface.Application of Hf liner is hindered by oxygen scavenging from Al2O3. The difference in effective work functions (EWF) between metal electrodes in metal-insulator-metal structures used in resistive switching memory cells determines the value of the static built-in voltage. The latter may affect the retention properties because the corresponding electric field remains present even if no external voltage is applied to the cell. Using the spectroscopy of internal photoemission of electrons, we evaluated the possibility to adjust the EWFs of the back (TiNy, y?1) and ion-injecting electrodes (Cu or CuxTe1-x) at interfaces with the Al2O3 insulator by inserting a thin layer (a liner) of low work function metal (Ta, Ti, Hf). It is found that even a 3-nm thick layer of Ta allows for a reduction of the EWF of copper by ?1.5eV. A thicker, ?6nm, layer of Ti is required to attain a similarly low EWF while in the case of an Hf liner, scavenging of oxygen from the alumina results in a laterally nonuniform barrier.

In this paper, we optimize the thermal stability of WAl2O3Cu and WAl2O3Cu-Te conductive-bridging cells for integration of 1-Transistor/1-Resistor (1T1R) memory elements. Thermal stability up to the back-end-of-line (BEOL) processing temperature of 400°C is ensured by Cu-Te composition tuning and carbon alloying developments, while Cu in-diffusion processes during BEOL processing is limited through the engineering of thin Ti-, Ta-, and TiW-based metallic liners inserted at the Al2O3Cu(-Te) interface. The integrated 1T1R cells are demonstrated to operate in the nanosecond range using moderate voltages. Write endurance of >106 cycles is achieved using 10ns-short pulses while high voltage-disturb robustness is observed at lower voltages, resulting in excellent voltage-time characteristics of the cells. Finally, images of device filaments programmed in low- and high-resistance states are successfully obtained by means of conductive atomic-force-microscopy

Metabolic syndrome (MS) is an important cardiovascular risk factor and visceral fat plays a central role in its development. Visceral fat measurement by TC or MRI is difficult to apply in routine clinical practice. Our aim was to evaluate anthropometric measurements, abdominal ultrasonography (US) and a new abdominal bioelectrical impedance analysis (BIA) (ViScan, TANITA) as predictors of metabolic abnormalities. 105 subjects, (age 52.8 ± 14.7 years, BMI of 29.2 ± 5.3 kg/m2) were analysed. Total cholesterol, HDL-cholesterol, triglycerides, glucose, insulin, adipochine and inflammatory citochines were determined. Waist and hip circumferences and sagittal abdominal diameter (SAD) were measured and abdominal BIA with ViScan was performed; peri-renal, para-renal, peri-hepatic, pre-peritoneal, and peritoneal fat thicknesses were measured by US Anthropometric indexes, ViScan and US measurements were evaluated as predictors of MS abnormalities in a partial correlation analysis adjusted for BMI. Only SAD and peritoneal US fat thickness are good predictors for the metabolic abnormalities related to MS after adjusting for BMI. The correlation among different anthropometric, abdominal BIA and ultrasonographic measurements, corrected for BMI, showed that SAD had a strong correlation with peritoneal fat thicknesses. Both SAD and US peritoneal fat thickness are good predictors of metabolic abnormalities.

We addressed the possible variation of the electron barrier at the Cu 0.6 Te 0.4 /Al 2 O 3 interface as compared to the pure Cu electrode case. The experiments were performed using structures fabricated by atomic layer deposition of an Al 2 O 3 insulator on (100)Si or thermally oxidized (100)Si, followed by sputtering of Cu or Cu 0.6 Te 0.4 top electrodes. These structures were used to observe electron photoemission from the metal layer into the oxide in order to determine the energy barrier for electrons between the Fermi level of the metal and the conduction band of the insulating layer. The electron barrier height at interfaces of Cu and Cu 0.6 Te 0.4 electrodes is found to be the same but appears to be sensitive to the oxide type which is ascribed to the formation of a polarization layer.

A total of 46 patients with primary myelofibrosis (PMF) (median age 51 years), underwent an allogeneic hemopoietic SCT (HSCT) after a thiotepa-based reduced-intensity conditioning regimen. The median follow-up for surviving patients is 3.8 years. In multivariate analysis, independent unfavorable factors for survival were RBC transfusions >20, a spleen size >22 cm and an alternative donor-24 patients had 0-1 unfavorable predictors (low risk) and 22 patients had 2 or more negative predictors (high risk). The overall actuarial 5-year survival of the 46 patients is 45%. The actuarial survival of low-risk and high-risk patients is, respectively, 77 and 8% (P

Objective: Obesity is increasing in the elderly and it is associated with an increased risk of medical complications, decline in physical function and disability. Very few studies specifically evaluated the outcome of obesity treatment in the aging patients. Aim of this work is therefore the evaluation of the efficacy of medical therapy in a group of obese patients ≥65 years old. Methods: The study has been performed on the clinical records of obese outpatients treated at the medical branch of the Unit for Medical and Surgical Therapy of Obesity at the University of Padova. Patients were recruited from January 1st, 2001 to June 30th, 2006 in order to have patients with at least one year of potential follow-up. In particular two groups were enrolled: 100 patients ≥65 years old and 200 patients

The impact of the post-implantation Rapid Thermal Anneal (RTA) temperature on the leakage current of p+n junctions fabricated in epitaxial Ge-on-Si substrates is analyzed in terms of the area and the peripheral leakage current component. While the former is not clearly affected, it is shown that the peripheral leakage current density increases in the range 500 to 600oC. A similar trend is found for the off-state leakage current of pMOSFETs made in the same substrates. This is ascribed to a higher activation of the halo implantation, which generates a higher band-to-band tunneling at the interface. It is, finally, shown that replacing the standard BF2 extension implantation by a Ge pre-amorphization followed by a low-energy B implant improves the area leakage current density, most likely because of a lower residual damage.

HLA class II alleles were identified in 181 healthy unrelated Ethiopian children of both sexes and in 350 European controls from the South of France. The Ethiopian individuals belonged to the two major ethnic groups of the country: Oromo (N=83) and Amhara (N=98). In both panels, genetic polymorphism of HLA class II alleles was analysed for the first time by molecular typing of DRB1, DQA1 and DQB1 loci. Allelic and phenotypic frequencies were compared with those of European controls and other African populations. Construction of HLA class II three-locus haplo-types was also performed. The study revealed some differences between the two groups. Characteristic features of Central and North African populations appeared on the Ethiopian HLA genotypes. Surprisingly, DRB1*11 presented one of the lowest gene frequencies in both Ethiopian ethnic groups in contrast to Europeans and West Africans. Furthermore, this decrease was more marked than those observed using serological techniques in other geographically close East African countries. Oromo and Amhara only showed minor differences in spite of their different origins and histories. One significant difference consisted of a lower DRB1*01 gene frequency in Oromo as reported in most West African people. Some new or rare haplotypes were also observed in the Oromo group. Our results underline the distinctive features of the Ethiopian populations among the few HLA genotyping data available for East African groups and emphasise the major interest of such investigations in this region of Africa.

Evaluation of the legal implications of error in radiology and therefore the assessment of criminal and civil liability in the practice of the profession requires an analysis of how the public perception of the right to health has radically changed. This change has initiated a defensive approach to medicine and radiology that tends to be oriented towards precautionary measures, with a proliferation of often unnecessary imaging studies. In radiology, errors of omission or commission are frequent. A critical appraisal of the different types of error in radiology will help practitioners undertake the essential corrective measures. Through analysis of several cases derived from legal or insurance proceedings brought against radiologists, the most common forms of error are described, and their implications for criminal and civil liability are illustrated, although it is emphasised that the existence of an error does not always translate into the presence of malpractice.

The 2011 collaborative exercise of the ISFG Italian Working Group GeFI was aimed at validating the five ENFSI/EDNAP miniSTR loci D1S1656, D2S441, D10S1248, D12S391 and D22S1045. The protocol required to type at least 50 multilocus profiles from locally resident individuals and two blind bloodstains in duplicate (i.e., using at least two different commercial kits), and to send the electropherograms to the Organizing Committee. Nineteen laboratories distributed across Italy participated, collecting a total of 960 samples. Full concordance was found for the five new miniSTRs as observed from the comparison of 13,150 alleles. The inspection of the electropherograms allowed the identification of a very limited number of mistypings in the miniSTR genotypes thus contributing to the establishment of an high quality Italian database of frequencies.

Human apolipoprotein E is the most important supplier of the cholesterol precursor for steroid hormone production in steroidogenic tissues and therefore could play a role in the regulation of steroid hormone function and influence human reproduction. This hypothesis has been confirmed by studies describing a differential fertility associated with common apolipoprotein (APOE) genotypes in two European populations. In the present investigation the impact of APOE genetic variation on fertility was studied in two Ecuadorian populations, African-Ecuadorians (57 women) and Cayapa Indians (27 women). In addition some biodemographic variables concerning women's fertility were investigated (124 African-Ecuadorian women; 40 Cayapa women) to better understand the APOE-fertility relationships in these pre-industrial populations. General fertility rates in both populations were very high (6.5 and 6.2 for the African-Ecuadorians and for the Cayapa respectively). When considering only women near the end of reproductive life ($40 years), a more marked difference was observed between the two groups (9.1 versus 7.7, P 5 0.09). In both communities, the highest number of children was found to be associated with the e*4/e*3 genotype; the e*4/e*3 genotype frequency (0.50) in the African-Ecuadorian women with 9-17 children was about three times that of the women with 0-8 children (0.14) (P 5 0.02). The present findings are at variance with those observed in European populations, where e*3/e*3 was the genotype associated with the highest reproductive efficiency. A possible explanation for this inconsistency could be due to the different functional properties associated with the e*3 and e*4 alleles and to genotype interactions with environmental factors including reproductive strategies.

A previous investigation on apolipoprotein E polymorphism in the Ethiopian population highlighted the presence of a further variant allele named E*5 in addition to the three common alleles. The variant is considered rare elsewhere but has a frequency of more than 1% in this population. Now characterized by gene sequencing and restriction isotyping in many members of the families of the original carriers, the variant isoform has actually been found to be determined by two different gene mutations. Effectively rare in Ethiopians, one of the two, E5 (Gln204Lys, Cys 112Arg), has never been described before. The other, E5 (Glu212Lys), previously described in a subject of Turkish origin, is present at the polymorphic level only in the Ethiopian population. No subjects bearing these variants had anomalous lipid or apolipoprotein patterns. In the course of the present investigation both have been found to occur as rare variants in the southern Italian population as well. The occurrence of the two variants in the populations of Ethiopia and of the Mediterranean basin could be explained by taking into account the relevant Caucasoid contribution to the Ethiopian gene pool.

3 Abstract The physiological role of human paraoxonase (PON), a serum enzyme that hydrolyzes organophosphate insecticides and nerve agents, is not clear. Of the three genes in the paraoxonase gene family, PON1 shows a polymorphism, Gln 192→Arg, governed by two common alleles named *Q and *R. These determine two different isoforms associated, respectively, with lower and higher activity towards paraoxon, a toxic metabolic product of the insecticide parathion. The *R allele has often been found associated with an increased risk of coronary heart disease. As human populations tend towards greater exposure to environmental changes, including changes in dietary habits and contact with insecticides or other toxic substances, health risks will change as well. In studying the prevention of these newly emerging risks, it could be important to know the distribution of the two alleles in the various world populations. In this paper we report on the genotype and allele frequencies of this polymorphism in different populations, most of which have never been examined for this polymorphism. Samples were taken from mainland Italy, Sardinia, Ethiopia, Benin, and Ecuador. The *R allele fre- quencies for the samples were: 0.313, 0.248, 0.408, 0.612, and 0.789, respec- tively. The data show a large variability in allele frequencies, and, in particu- lar, that PON1 allele distribution depends on membership to different geographic populations.

The present composition of the Ethiopian population is the result of a complex and extensive intermixing of different peoples of North African, Near and Middle Eastern, and south-Saharan origin. The two main groups inhabiting the country are the Amhara, descended from Arabian conquerors, and the Oromo, the most important group among the Cushitic people. With the exception of some surveys on the general Ethiopian populations, little is known about the degree of genetic differentiation between the Amhara and the Oromo.The study seeks to investigate the genetic structure of these two heterogeneous Ethiopian populations and to characterize their relationships with other African and Mediterranean peoples.Amhara and Oromo individuals (n = 171) were analysed for three RFLPs (restriction fragment length polymorphisms) of the COL1A2 gene. To better define the genetic relationship between the two Ethiopian groups, and also between African and non-African peoples, genetic distances among Amhara, Oromo and other populations were estimated using the COL1A2 allele and haplotype frequencies, and the allele frequencies of 16 additional classical markers.chi(2) analysis applied to the COL1A2 allele and haplotype frequencies showed a small but statistically significant degree of heterogeneity between the two Ethiopian populations. Combining the information obtained from the three RFLP markers, a significant level of differentiation (Fst = 0.0147, p = 0.036) was also detected between Amhara and Oromo. The genetic distance analysis showed the separation between African and non-African populations, with the Amhara and Oromo located in an intermediate position. This pattern is consistent with the location of the two Ethiopian groups in other genetic analysis and with cultural data.The present findings suggest the presence of a differential level of genetic relatedness with south-Saharan peoples in the two Ethiopian groups, which could reflect their different history and seems to indicate the existence of genetic sub-structure within the country.

Il lavoro discute di sicurezza alimentare limitatamente alla sola problematica macroeconomica nei paesi avanzati, allo scopo di esaminare le esigenze in tema di intervento pubblico che da essa possono farsi derivare.

Malignant autosomal recessive (AR) osteopetrosis represents an absolute indication for bone marrow transplantation (BMT). Over the last 15 years, almost 100 BMTs for osteopetrosis have been reported. The median age at transplant of most patients is 4 months. Very few cases of mild AR osteopetrosis have been described. Here, we report the good outcome of two cases of mild AR osteopetrosis with a follow-up of 5 and 6 years, respectively, after an HLA-identical sibling transplant undergone at 5 and 12 years of age, respectively. At the time of BMT, severe visual impairment was present in both children. Bone biopsy demonstrated hypermineralization with virtual obliteration of the medullary spaces, rare microfoci of hematopoiesis and marked deficiency in osteoclastic activity. Successful engraftment was complicated by hypercalcemia, controlled by a combination of bisphosphonate, phosphate infusions, vigorous hydration and calcitonin. Following BMT, radiological and histological findings showed extensive bone resorption with marked augmentation of the osteoclasts in normalized marrow. No improvement was observed in visual acuity, despite complete remodeling of skeletal abnormalities. We conclude that allogeneic BMT is the only chance of curing mild AR osteopetrosis.

Disulfiram (Antabuse) produces a sensitivity to alcohol which results in a highly unpleasant reaction when the patient under treatment ingests even small amounts of alcohol. Disulfiram blocks the oxidation of alcohol at the acetaldehyde stage. Accumulation of acetaldehyde (5 to 10 times higher than that found during metabolism of the same amount of alcohol alone) in the blood produces a complex of highly unpleasant symptoms referred to as the disulfiram-alcohol reaction: flushing, throbbing in head and neck, respiratory difficulty, nausea, copious vomiting, palpitation, tachycardia, vertigo, blurred vision and confusion. Bupropion (Zyban) is used mainly as an antidepressant, but also as an aid to smoking cessation with motivational support in nicotine-dependent patients. Bupropion is a relatively weak inhibitor of the neuronal uptake of norepinephrine and dopamine, and does not inhibit monoamine oxidase or the re-uptake of serotonin. The mechanism by which Zyban enhances the ability of patients to abstain from smoking is unknown. However, it is presumed that this action is mediated by noradrenergic and/or dopaminergic mechanisms. A specific and reproducible HPLC method coupled with Diode Array Detection (DAD) has been developed to simultaneously quantify Disulfiram and Bupropion in human plasma. The analysis was performed on an reversed-phase C8 column, with a mobile phase consisting of a mixture of phosphate buffer and acetonitrile (55/45). DAD detection was carried out at 250 nm. The assay showed a linear response for Disulfiram (5-1000 ng/mL) and for Bupropion (2.5-1000 ng/mL). A careful and rapid solid-phase extraction (SPE) procedure on C2 cartridges was chosen for plasma sample purification and pre-concentration obtaining good extraction yield values for each analyte. Assays are currently underway to validate the method and to apply it to determination of Disulfiram and Bupropion in plasma samples from alcohol and nicotine-dependent patients.

The temperature dependence of the trap-assisted tunneling (TAT) current component in Ge p+n junctions has been studied between 25degC and 140degC. It is shown that the impact of TAT reduces significantly due to the combination of the negative thermal activation of the TAT-enhancement factor and the exponential increase of the diffusion current with temperature. It is shown that the experimental data can be well described in the frame of the Hurkx analytical model, which allows a fairly easy assessment of the TAT current contribution to the junction leakage current at realistic operation temperatures of Ge CMOS circuits.

Data were obtained on surnames of the parents and places of birth of the parents and grandparents of children in Siena, Italy. Isonymy and total inbreeding coefficient, and their random and non-random components, are 0·005, 0·00125, 0·00019 and 0·00106, respectively. Isonymy and inbreeding figures are similar to those of other medium-sized Italian towns, while higher values have been reported for Italian villages and Italian ethnic minorities. City endogamy, and endogamy of Contrada for grandparents have the same values (44·1 and 44·8%, respectively), but for parents, endogamy of Contrada is lower than city endogamy (15·2 and 33·4%, respectively). The difference between the extent of Contrada endogamy expected at random and observed in the parents' generation does not seem to affect the genetic structure of the present population. However, the bulk of marriage migration (more than 70%) is short range, with people coming from Tuscany. There is no statistical difference in marital migration between males and females.

In this article, we investigate extensively the bipolar-switching properties of Al2O3- and HfO2-based resistive-switching memory cells operated at low current down to 15 μA), which we relate as intrinsic to soft-breakdown (SBD) regime. We evidence a larger impact of the used switching-oxide in this current range, due to lower density of oxygen-vacancy (Vo) defects in the SBD regime. In this respect, deep resetting and large memory window may be achieved using the stoichiometric Al2O3 material due to efficient Vo annihilation, although no complete erasure of the conductive-filament (CF) is obtained. We finally emphasize that the conduction may be described by a quantum point-contact (QPC) model down to very low current level where only a few Vo defects compose the QPC constriction. The large switching variability inherent to this latter aspect is mitigated by CF shape tuning through adequate engineering of an Al2O3\HfO2 bilayer.

Summary Human Leucocyte Antigen (HLA) loci are widely known for their role in the generation of immune responses and are often considered to be effective in reconstructing human relationships. This is due to the high degree of polymorphism and the rarity of recombination observed at HLA loci. In this study, we have made an attempt to support the potential of HLA class II loci by analysing DQA1 and DQB1 in 52 Ecuadorians with ties to the Tsachilas community. Little is known about this populations either ethnologically or historically: they are considered retaining much of the ancient Chibchan culture in spite of the lack of significant genetic characterization. A total of 21 alleles were observed, with very low heterozygosity. The obtained data were then assessed for relationship reconstruction. The compiled database of 63 populations was segregated and resolved in clusters corresponding to the ethnogeographic distribution of the populations. This analysis of Central and Southern Amerindians allowed us to support a historical hypothesis related to the origin and migration of Ecuadorian people. Indeed, the relationships with neighbour human groups, especially Cayapas and Colombians, could shed light on the genetic similarity within ancient Chibchan culture that was dispersed by tribes coming up the Barbacoas. This indicates that if an appropriate analysis was to be carried out on a set of populations representative of different geographic locations, and that analysis was properly interpreted, then there would be a high possibility that HLA class II loci could infer accurate assessments, as revealed by uniparental markers.

Haplotype data of 1176 Italian males from 10 regions were obtained as a part of a collaborative validation exercise. Individual data are available at http://www.gefi-forensicDNA.it .

Battistuzzi L, Ciliberti R, Forzano F, De Stefano F. Regulating the communication of genetic risk information: the Italian legal approach to questions of confidentiality and disclosure. Communication of genetic risk is a complex process in which the rights of the individual and those of relatives may conflict with regard to the information revealed by DNA testing. If patients who participate in clinical genetic testing refuse to share their genetic information with at-risk relatives, healthcare professionals need to reach a proper ethical balance between the right of individual patients regarding the confidentiality of their genetic test result and the right of families to be informed about their genetic risk. Rules and legislation in most countries generally protect the confidentiality of medical information but allow limited disclosure of genetic test results without the patient's consent in specific cases when certain conditions are met. The aim of this article is to draw attention to how Italian policymakers have attempted to balance protection of autonomy and confidentiality, and protection of health by means of a hybrid instrument. Furthermore, we show that some of the requirements of that instrument depart from the most widely recognized standards for non-consensual disclosure of genetic risk information, while at the same time allowing an unusually high level of discretion to healthcare professionals involved in genetic counseling and testing.

The Ethiopian population is very difficult to specify due to a very high degree of intermixing among different peoples. The two groups of the present study, the Amhara and Oromo, constitute 38% and 35% of the population, respectively. In order to investigate the genetic composition of the Amhara and Oromo, genetic polymorphisms of seven plasma proteins (F13A, F13B, ORM1, AHSG, C6, C7, and APOC2), already identified as useful anthropological markers, were studied. No statistically relevant differences were found between the two groups for all of the systems examined. ORM1 and F13A showed frequencies in the range observed in other populations of Caucasoid and Negroid origin. F13B, AHSG, and C6 displayed gene frequencies and a number of variant alleles that seem particular to these two groups. No variation was observed for C7 and APOC2. Correspondence and distance analyses were used to interpret and compare the gene frequencies of the Amhara and Oromo with those of other related populations. These methods locate Ethiopians in an intermediate position between African Blacks and a group of Caucasoid populations, confirming cultural and historical data. © 1994 Wiley-Liss, Inc.

The aim of this study is to explore human leukocyte antigen (HLA)-DQ variability in two populations (Cayapas Amerindians and Afro-Ecuadorians) who live near one another along the Cayapa River and who are exposed to the same environmental stresses, such as infection by Onchocerca volvulus. HLA-DQA1 and HLA-DQB1 of 149 unrelated individuals (74 Cayapas and 75 Afro-Ecuadorians) have been analyzed. HLA high-resolution molecular typing was performed by sequence-based typing, sequence-specific oligonucleotides hybridization and sequence-specific primer (SSP) amplification. The comparison between affected (cases) and unaffected people (controls) in both populations shows the key role of several HLA-DQA1 alleles in susceptibility and protection against onchocerciasis. In both populations, there is strong evidence related to the protective role of DQA1*0401 against onchocerciasis. Alleles HLA-DQA1*0102 and *0103 seem to represent risk factors in Afro-Ecuadorians, while HLA-DQA1*0301 is only a suggestive susceptibility allele in Cayapas. These findings represent new positive/negative associations with onchocerciasis in South America, whereas previous findings pertained only to African populations.

On 27 May 2005 in Prum was signed a convention between the Kingdom of Belgium, the Federal Republic of Germany, the Kingdom of Spain, the French Republic, the Grand Duchy of Luxembourg, the Kingdom of the Netherlands and the Republic of Austria on the stepping up of cross-border cooperation, particularly in combating terrorism, cross-border crime and illegal migration (hereinafter the Prum Treaty) improving the exchange of information and data resulting by DNA, dactyloscopic and vehicle data to regulate forms of closer cooperation between law enforcement and judicial authorities. On 23 June 2008 the Council of the European Union adopted the Prum Treaty under the Treaty on European Union with the Decisions 2008/615/JHA and 2008/616/JHA. On 14 July 2009 the Italian Parliament has passed the act n.85/2009 published on the Official Journal (G.U.) n.160 Supp.Ord.n.108/L G.U. General series with the title: "Adhesion of the Italian Republic to the Prum Treaty. Establishment of national DNA database (NDNADB) and the central laboratory for the NDNADB" in order to facilitate the identification the perpetrators of crimes. The purpose of this paper is to illustrate some aspects described on the chapters of the law as the organization, the rules, the types of activities of NDNADB and the central laboratory, the categories of the person for inclusion in the DNA database, the methodology of analysis of evidence and reference sample, etc.

Growth and body height have always been topics interesting to the public. In particular, the stupendous increase of some 15-19. cm in final adult height during the last 150 years in most European countries (the " secular trend" ), the concomitant changes in body and head proportions, the tendency towards early onset of sexual maturation, the changes in the age when final height is being reached, and the very recent trend in body mass index, have generated much scientific literature. The marked plasticity of growth in height and weight over time causes problems. Child growth references differ between nations, they tend to quickly become out of date, and raise a number of questions regarding fitting methods, effects caused by selective drop-out, etc. New findings contradict common beliefs about the primary importance of nutritional and health related factors for secular changes in growth. There appears to be a broad age span from mid-childhood to early adolescence that is characterised by a peculiar insusceptibility. Environmental factors that are known to influence growth during this age span appear to have only little or no impact on final height. Major re-arrangements in height occur at an age when puberty has almost been completed and final height has almost been reached, implying that factors, which drive the secular trend in height, are limited to early childhood and late adolescence. © 2010 Elsevier GmbH.

HLA-DQA1 typing of 227 randomly selected Northern Italian people by the use of polymerase chain reaction are reported. The combined use of commercial Amplitype HLA-DQalpha system and four sequence-specific oligonucleotide probes allows the definition of 8 alleles and 36 genotypes, arranged according to World Health Organisation nomenclature. Seven of these genotypes are not observed among the analyzed samples. Allele frequencies range from 1.5 to 35.7% and genotype observations do not deviate significantly from Hardy-Weinberg equilibrium; observed heterozygosity is 0.8238 with an allelic diversity value of 0.79 and the power of discrimination is 0.925. Our Italian population sample shows differences from other Caucasian samples both for allele and genotype frequencies. This locus typing for the 8 defined alleles provides a rapid and sensitive method in individual identification and paternity investigation.

Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disease, highly variable and multisystemic, which is caused by the expansion of a CTG repeat located in the 3´ untranslated region of the DMPK gene. Normal alleles show a copy number of 5–37 repeats on normal chromosomes, amplified to 50–3000 copies on DM chromosomes. The trinucleotide repeat shows a trimodal allele distribution in the majority of the examined population. The first class includes alleles carrying (CTG)5, the second class, alleles in the range 7–18 repeats, and the third class, alleles (CTG)≥ 19. The frequency of this third class is directly related to the prevalence of DM in different populations, suggesting that normal large-sized alleles predispose toward DM. We studied CTG repeat allele distribution and Alu insertion and/or deletion polymorphism at the myotonic dystrophy locus in two major Ethiopian populations, the Amhara and Oromo. CTG allele distribution and haplotype analysis on a total of 224 normal chromosomes showed significant differences between the two ethnic groups. These differences have a bearing on the out-of-Africa hypothesis for the origin of the DM mutation. In addition, (CTG)≥ 19 alleles were exclusively detected in the Amhara population, confirming the predisposing role of these alleles compared with the DM expansion-mutation.

The aims of this study were to reduce and monitor litigation due to failure to diagnose a fracture, to evaluate whether the cases were due to radiological error or other problems in the diagnostic and therapeutic management of patients and to identify organisational, technical or functional changes or guidelines to improve the management of patients with suspected fracture and their expectations. We analysed the litigation database for the period 2004–2006 and extracted all episodes indicating failure to diagnose a fracture at the accident and emergency radiology department of our centre. The radiographs underwent blinded review by two experts, and each case was jointly analysed by a radiologist and a forensic physician to see what led to the compensation claim. We identified 22 events (2004 seven cases; 2005 eight cases; 2006 seven cases). Six cases were unrelated to radiological error. Six were due to imperceptible fractures at the time of the examination. These were accounted for by the presence of a major lesion distracting the examiner’s attention from a less important associated lesion in one case, a false negative result in a patient examined on a incompletely radiolucent spinal board and underexposure of the coccyx region in an obese patient. Six cases were related to an interpretation error by the radiologist. In the remaining cases, the lesion being referred to in the compensation claim could either not be established or the case was closed by the insurance company without compensation. Corrective measures were adopted. These included planning the purchase of a higher performance device, drawing up a protocol for imaging patients on spinal boards, reminding radiologists of the need to carefully scrutinise the entire radiogram even after having identified a lesion, and producing an information sheet explaining to patients the possibility of false negative results in cases of imperceptible lesions and inviting them to return to the department if symptoms persist. We believe the clinical and administrative analysis we performed is useful. It reviewed some administrative practices and identified critical features. We identified tools that we trust will reduce litigation.

A 41-year-old healthy Caucasian male showed an unidentifiable direct AB0 group and a B group by an indirect method revealing the presence of natural antibodies anti-A1 and anti-A2. Mixed fields with anti-B and anti-A+B antisera led to the conclusion that blood group B and 0 cell populations were present in a 1:1 ratio. A negative anamnesis for both transplantation and transfusion suggested a chimerism. DNA analysis of tissues revealed a tetragametic chimerism due to an apparent double parental contribution of nuclei in a phenotypically normal man.

The distinct metabolic properties of visceral and subcutaneous adipocytes may be due to inherent characteristics of the cells that are resident in each fat depot. To test this hypothesis, human adipocytes were differentiated in vitro from precursor stromal cells obtained from visceral and subcutaneous fat depots and analysed for genetic, biochemical and metabolic endpoints.Stromal cells were isolated from adipose tissue depots of nondiabetic individuals. mRNA levels of adipocyte-specific proteins were determined by real-time RT-PCR. Insulin signalling was evaluated by immunoblotting with specific antibodies. Glucose transport was measured by a 2-deoxy-glucose uptake assay. Adiponectin secretion in the adipocyte-conditioned medium was determined by a specific RIA.With cell differentiation, mRNA levels of PPARG, C/EBPalpha (also known as CEBPA), AP2 (also known as GTF3A), GLUT4 (also known as SLC2A4) were markedly upregulated, whereas GLUT1 (also known as SLC2A1) mRNA did not change. However, expression of C/EBPalpha, AP2 and adiponectin was higher in subcutaneous than in visceral adipocytes. By contrast, adiponectin was secreted at threefold higher rates by visceral than by subcutaneous adipocytes while visceral adipocytes also showed two- to threefold higher insulin-stimulated glucose uptake. Insulin-induced phosphorylation of the insulin receptor, IRS proteins, Akt and extracellular signal-regulated kinase-1/2 was more rapid and tended to decrease at earlier time-points in visceral than in subcutaneous adipocytes.Subcutaneous and visceral adipocytes, also when differentiated in vitro from precursor stromal cells, retain differences in gene expression, adiponectin secretion, and insulin action and signalling. Thus, the precursor cells that reside in the visceral and subcutaneous fat depots may already possess inherent and specific metabolic characteristics that will be expressed upon completion of the differentiation programme.

The estrogen receptor (ER) plays an important role in mediating estrogen action on target tissues. ER-alpha, the most abundant, is found in all human reproductive tissues and studies on alpha-ER knockout mice have highlighted its role in reproduction. ER-alpha gene (ESR1) polymorphisms have been associated with a variety of disorders including human infertility. In this study, we examined the association of ESR1 PvuII and XbaI polymorphisms with fertility in two populations with different reproductive patterns and precisely in a sample of healthy Italian men and women (n 5 178) and in a sample of healthy African-Ecuadorian women (n 5 57). ESR1 xx and ppxx genotypes among the Italian men were found to be associated with an above-median number of children (P 5 0.01 and P 5 0.004, respectively). ESR1 pp genotype among the Italian women showed a tendency to be associated with a lower number of abortions (P 5 0.04), whereas ESR1 pp and ppxx genotypes among African-Ecuadorian women were associated with a higher number of children (P 5 0.02 and P 5 0.03, respectively). These results are consistent with previous observations indicating a role of ESR1 genotypes in human infertility and give insight into the complex interactions between genotypes and reproductive behaviours in human populations.

N-acetyltransferase 2 (NAT2), an important enzyme in clinical pharmacology, metabolizes antibiotics such as isoniazid and sulfamethoxazole, and catalyzes the transformation of aromatic and heterocyclic amines from the environment and diet into carcinogenic intermediates. Polymorphisms in NAT2 account for variability in the acetylator phenotype and the pharmacokinetics of metabolized drugs. Native Americans, settled in rural areas and large cities of Latin America, are under-represented in pharmacogenetics studies; therefore, we sequenced the coding region of NAT2 in 456 chromosomes from 13 populations from the Americas, and two from Siberia, detecting nine substitutions and 11 haplotypes. Variants *4 (37%), *5B (23%) and *7B (24%) showed high frequencies. Average frequencies of fast, intermediate and slow acetylators across Native Americans were 18, 56 and 25%, respectively. NAT2 intra-population genetic diversity for Native Americans is higher than East Asians and similar to the rest of the world, and NAT2 variants are homogeneously distributed across native populations of the continent.

Background and aim The human peroxisome proliferator-activated receptor gamma (PPAR-γ) is involved in lipid storage, glucose homeostasis and adipocyte differentiation. The Ala allele of the Pro12Ala polymorphism has been associated with a protective effect against T2DM. Ala allele frequencies are known for many populations, but data are absent for other interesting human groups. Methods and results We examined samples from Ethiopia, Benin, Ecuador and Italy. In addition, we performed an analysis of the Pro12Ala polymorphism distribution in world populations, also in relation to T2DM prevalence and the diet lipid content. In the European populations, the Ala allele frequencies are distributed according to a latitudinal trend, with the highest in the northern and central European populations and the lowest in the Mediterranean populations. Considering the world populations, a significant inverse relationship between Ala frequency and T2DM prevalence was observed mainly in populations where energy from lipids exceeded 30% of the total energy intake. Conclusion Northern Europe's cold climate has been hypothesised to have played a role in contributing to the present pattern. Moreover our analysis appears to confirm, at a population level, the protective effect of Ala allele against T2DM, already observed in case-control studies, but only in populations with a diet rich in lipids.

EcoRI, MspI and RsaI restriction fragment length polymorphisms (RFLPs) of the COL1A2 (type I collagen) gene are proving to be extremely informative markers for describing human populations; therefore they hold considerable potential for anthropogenetic research.The objective of this study was to characterize at the DNA level the Colorado Indians from Ecuador, for whom only blood group frequency information is available, and to investigate their relationships with the Cayapa-another Ecuadoran Native American group belonging to the same linguistic affiliation-and other world populations.Colorado Indians (n = 80) were analysed for the three anthropologically informative RFLPs of the COL1A2 gene. To better define the genetic relationship between this group and other populations, principal component analysis (PCA) was performed and genetic distances were estimated. Population genetic structure was tested through analysis of molecular variance (AMOVA) by comparing haplotype frequencies.COL1A2 allele and haplotype frequencies showed a certain degree of heterogeneity between the two Chibchan populations of Ecuador. The AMOVA test detected a significant level of differentiation (Fst = 0.034, p = 0.0049) between Colorado and Cayapa Indians. PC and genetic distance analyses showed a clear-cut separation between African and non-African populations; within the latter, the two Native American groups were differentiated from each other.The present findings suggest the presence of a low level of genetic relatedness between the Colorado and the Cayapa, despite their supposed common ethnogenesis. This confirms what has been inferred from other genetic data about the high degree of heterogeneity among Native Americans, even within the same linguistic branch, thus supporting the existence of genetic sub-structure within the central and southern American populations.

According to ISMEA, continuing the trend of previous years, in 2000 domestic consumption of buffalo products rose further, although the same year saw a contraction across the board in the consumption of other DOP cheeses, as occurred across the whole cheese sector. By contrast, demand for DOP cheeses in 2001 showed no variations in volume, although it increased in value by 5.5%. In particular, Mozzarella di Bufala Campana experienced increases, for 2001, both in quantity (5.9%) and in value (12.4%) (Fabbro, 2003; Osservatorio Consumi, 2003). These consumption trends in buffalo products occurred within a price framework which is on average 50% higher than that of mozzarella made from cow’s milk. Consumption is chiefly located in Southern Italy. However, there seems to be a clear trend towards greater distribution in other parts of Italy. In other words, despite being more concentrated in the areas where the raw material is produced, buffalo mozzarella consumption is spreading throughout Italy and abroad to the same extent as other, longer-established products. In the geographical areas far removed from the production area, percentage variations in the quantities consumed are three times higher in north-western and central Italy than in the south. Finally, it is precisely this

Despite technical refinements in surgery and advances in postoperative intensive care, abdominal wall closure in giant omphalocele remains a difficult endeavor. In this respect, bipedicled skin flaps obtained with longitudinal incisions along the margins of the rectus abdominis muscle may represent a good alternative solution to achieve a complete, tension-free midline closure. Incisional areas can subsequently be easily covered with split-thickness thigh grafts. Two neonatal cases were treated with this technique with good results. This has enabled avoidance of palliative coverage as well as complex musculo-cutaneous reconstructions at a later age.

We evaluated four unusual cases of disputed paternity in which only two subjects were available for analysis, with two different approaches. The first was the conventional method based on the posterior probabilities of observing the involved genotypes, given the alternative hypothesized relationships; the second was a new method based on the probability of sharing 0, 1 or 2 alleles identical by state (the IBS method). The new method is both conceptually and computationally easier, and has a comparable statistical power when markers with high heterozygosity are used.

The conversion equipment acquired by Telecom Italia is the object of a series of controls and checks carried out to maintain unaltered in time the quality of the services furnished. The reports of the maintenance activities constitute a valuable part of the data whose examination allows the opportune identification of the latent critical difficulties of the equipment. Next to this "traditional method", Telecom Italia has elaborated, together with manufacturers, a methodology which allows the identification of latent critical difficulties before they may present themselves in the form of breakdown. As a kind of example, a real case of system check-up, undertaken by the provider Installazioni Impianti is discussed.

Seven erythrocyte enzyme polymorphisms (ACP1, ADA, ESD, GLO1, PGD, PGM1 and PGM2) were investigated in a sample of 673 unrelated adult individuals from Friuli Venezia Giulia (or Friuli) and Istria. The gene frequencies found in the four provincial samples of Friuli and Istria fall within the range previously reported for Italy, showing a genetic homogeneity among the considered samples. However, comparisons with data from ex-Yugoslavian samples--using the chi 2 test--showed rather marked differences, probably due to a real different genetic structure of the compared samples. A significant association was found assuming a linear relation between the ADA*2 allele frequencies and longitude (r = +0.5503) and between the PGD*C frequencies and latitude (r = -0.6483), suggesting the existence of a clinal trend for these allele frequencies in Italy. These results seem to disagree with foregoing conclusions stated by other authors, probably because these studies were carried out in an area either rather narrow from the geographical point of view or affected by small size migration movements.

To decrease the relapse and morbidity risks of allograft in patients with refractory or relapsed hematologic neoplasia and metastatic breast cancer, fourteen patients entered our trial: Hodgkin’s disease (n = 4), non-Hodgkin’s lymphoma (n = 2), advanced chronic myelogenous leukemia (n = 2) (one patient with accelerated phase Ph-negative but p190 BCR-ABL gene positive by RT-PCR and one with Ph-positive blastic phase), metastatic breast cancer (n = 4). Another two patients, with RAEB, received allograft without myeloablative conditioning regimen. After high-dose therapy and autologous stem cell engraftment, the patients were treated with immunosuppressive therapy consisting of fludarabine and cyclophosphamide (Flu-Cy protocol) and then HLA matched donor mobilized stem cells were infused to the patients. GVHD prophylaxis consisted of cyclosporine and methotrexate.