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Sub-trochanteric fractures are among the most challenging for trauma surgeons. The purpose of this study was to analyze our own experience about subtrochanteric fractures. We focused on functional and radiographic outcomes after intramedullary locked nail fixation with or without cerclage assist.A retrospective analysis on subtrochanteric fractures managed from January 2016 to April 2021 was conducted. Patients treated by closed reduction and intramedullary nail fixation were enrolled in Group A, while Group B included those patients who underwent wire-assisted intramedullary nail fixation. All patients performed clinical and radiological follow-up and complications were analyzed. The significance was established for a value of p0.05.80 patients were included in the present study. The mean age was 74.2 (+/-19.2) years. The mean surgical time was 84.7 (+/-24.6) and 254.7 (+/-80.2) minutes in Group A and Group B, respectively. The mean blood loss was 87.3 (+/-18.3) ml in Group A and 224.4 (+/-37.8) ml in Group B. Quality of reduction was mainly superior in Group B. The mean time of union was 4.2 (+/-1.4) months in Group A and 3.4 (+/-2.1) months in Group B. Statistical differences were observed in Visual Analogue Scale (VAS) and in the Short Form 12 (SF-12) after 6 and 12 months of follow-up with better results in Group B. The complication rate was 18.2% in Group A and 12.2% in Group B.We recommend the use of wires when acceptable closed reduction cannot be obtained because its use may be useful for medial wall stability. For elderly patients, closed reduction may be more appropriate as the quality of life and functional recovery between the two methods is almost overlapped.

Isolated apophyseal avulsion of the greater trochanter is a rare condition in the paediatric population, frequently related to avascular necrosis of the femoral head. Since there are few cases in the literature, there is no consensus regarding the best treatment of this injury. Our study describes the case of a 9-year-old patient with an avulsion of the right greater trochanter. A minimally invasive osteosynthesis was performed, achieving complete clinical and radiographic healing of the patient and no long-term complications after four years.

We tested the hypothesis that common genetic variability of beta-cell genes responsible for monogenic diabetes may affect beta cell function in type 2 diabetes mellitus (T2DM). We studied 794 drug- naïve GAD-negative patients with newly diagnosed T2DM (age: median=59 years; I.Q. range: 52-66; body mass index: 29.3 kg/m

Implant-associated infections remain one of the main problems in trauma surgery, particularly for treatment of open tibial fractures. The role of systemic antibiotic prophylaxis is now established and accepted, but recent literature also seems to emphasize the importance of local antibiotic prophylaxis. Antibiotic coated nails play a crucial role, allowing at the same time the prevention of infections and favoring the stabilization of fractures. These devices appear to be a clinically effective and safe solution. The purpose of the study was to investigate the role of antibiotic coated nails in the treatment of tibia fractures. A literature review was performed on MEDLINE through PubMed to identify scientific publications relevant to the use of antibiotic coated nails in tibial fractures. Primary outcomes were infection rate and bone union rate. This review present numerous limits due primarily to the small number and different nature of studies published; the heterogeneity of the devices used.

INTRODUCTION Humerus fractures are frequent, accounting for about 3-4% of all fractures in adults. Treatment for fractures of the diaphyseal and proximal meta-epiphyseal regions remains controversial: there is no unanimity in the scientific community about the superiority of surgical treatment over non-surgical treatment and which is the best between possible surgical treatments. Among the choices for surgical treatment the most commonly used implants are the locking-compression plate and the intramedullary nailing. The purpose of this study was to perform a clinical and radiographic follow-up in patients who underwent surgical procedures for reduction and osteosynthesis of proximal or diaphyseal humeral fractures by means of anterograde intramedullary nailing with a straight-shaped nail. PATIENTS AND METHODS A clinical and radiographic follow-up was performed in 56 patients who underwent surgical procedures for reduction and osteosynthesis of proximal or diaphyseal humeral fractures by means of antegrade intramedullary nailing using Synthes MultiLoc® system. Clinical data were collected using subjective quality of life assessment forms (SF12-v2), quality of life related to specific disabilities assessment forms (Quick-DASH, ASES score, WORC) and objective functional assessment forms (Constant-Murley score). The radiographic Follow-Up was performed at 30, 90 and 180 days from the date of the surgery. RESULTS Almost all patients were able to return to a satisfactory quality of life, comparable with the one before the traumatic episode. The functional results were assessed as excellent or good with almost complete recovery of the range of motion and moderate recovery of strength. The residual pain encountered was moderate or zero. The average QuickDASH score was 17.7 ± 4.3 (range 9.1 - 27.3). The average ASES score was 73.8 ± 8.1 (range 58.3 - 88.3). The average WORC score was 543.3 ± 100 [74% ± 4.8%] (range 310 - 740). The mean Constant-Murley score was 69.6 ± 4.6 (range 61 - 84). All patients had a fair or good consolidation of the fracture on radiographic examinations. The calculated RUST score was 4.2 ± 0.4 (range 4-5) 30 days after surgery, 6.1 ± 0.9 (range 4- 8) 90 days after surgery and 9.8 ± 1.5 (range 7-12) to 180 days after surgery. No major complications were found. CONCLUSIONS Treatment of the diaphyseal and proximal meta-epiphyseal humeral fractures with antegrade intramedullary nail provides excellent subjective and objective clinical results and good radiographic results. However, clinical studies with larger number of patients and longer follow-up are necessary.

Heterozygous loss-of-function mutations in the glucokinase (GCK) gene cause maturity-onset diabetes of the young (MODY) subtype GCK (GCK-MODY/MODY2). GCK sequencing revealed 16 distinct mutations (13 missense, 1 nonsense, 1 splice site, and 1 frameshift-deletion) co-segregating with hyperglycaemia in 23 GCK-MODY families. Four missense substitutions (c.718A>G/p.Asn240Asp, c.757G>T/p.Val253Phe, c.872A>C/p.Lys291Thr, and c.1151C>T/p.Ala384Val) were novel and a founder effect for the nonsense mutation (c.76C>T/p.Gln26*) was supposed. We tested whether an accurate bioinformatics approach could strengthen family-genetic evidence for missense variant pathogenicity in routine diagnostics, where wet-lab functional assays are generally unviable. In silico analyses of the novel missense variants, including orthologous sequence conservation, amino acid substitution (AAS)-pathogenicity predictors, structural modeling and splicing predictors, suggested that the AASs and/or the underlying nucleotide changes are likely to be pathogenic. This study shows how a careful bioinformatics analysis could provide effective suggestions to help molecular-genetic diagnosis in absence of wet-lab validations.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the most common form of familial vascular dementia, is caused by mutations of the NOTCH3 gene. Approximately two hundred pathogenic mutations have been reported within five exons (exons 3, 4, 6, 11 and 19) which accounted for 78% of known mutations in worldwide series. We reported twenty-one NOTCH3 pathogenic mutations (including five novel ones) identified in 53 index Italian patients. Exons 4 (28%), 7 (21%) and 19 (24%) were the most frequently involved. To dissect genetic heterogeneity, we analyzed five haplotyped tagging single nucleotide polymorphisms (rs1044009, rs4809030, rs10426042, rs10423702 and rs3815188) in 95 patients, 39 unaffected pedigree members and 50 healthy controls. SNPs were analyzed using the Illumina VeraCode Universal Capture Beads technology by Allele Specific Primer Extension (ASPE). We identified ten different haplotypes named H1–H10; H1 was the most common haplotype in patients and controls and it was associated with at least twelve out of the twenty-one mutations. Detected mutations were not associated to specific haplotypes while genotyping was compatible with a possible founder effect for the novel p.S396C mutation which clustered in a restricted geographical area of northeast Italy. The results added on to the genetic heterogeneity of CADASIL and emphasized difficulties in designing algorithms for molecular diagnosis.

Hepatitis C virus (HCV) is a major cause of chronic liver disease, cirrhosis and hepatocellular carcinoma and the identification of the predictors of response to antiviral therapy is an important clinical issue.To determine the independent contribution of factors including IL28B polymorphisms, IFN-gamma inducible protein-10 (IP-10) levels and the homeostasis model assessment of insulin resistance (HOMA-IR) score in predicting response to therapy in chronic hepatitis C (CHC).Multivariate analysis of factors predicting rapid (RVR) and sustained (SVR) virological response in 280 consecutive, treatment-naive CHC patients treated with peginterferon alpha and ribavirin in a prospective multicentre study.Independent predictors of RVR were HCV RNA400 000 IU/mL (OR 11.37; 95% CI 3.03-42.6), rs12980275 AA (OR 7.09; 1.97-25.56) and IP-10 (OR 0.04; 0.003-0.56) in HCV genotype 1 patients and lower baseline γ-glutamyl-transferase levels (OR=0.02; 0.0009-0.31) in HCV genotype 3 patients. Independent predictors of SVR were rs12980275 AA (OR 9.68; 3.44-27.18), age40 years (OR=4.79; 1.50-15.34) and HCV RNA400 000 IU/mL (OR 2.74; 1.03-7.27) in HCV genotype 1 patients and rs12980275 AA (OR=6.26; 1.98-19.74) and age40 years (OR 5.37; 1.54-18.75) in the 88 HCV genotype 1 patients without a RVR. RVR was by itself predictive of SVR in HCV genotype 1 patients (OR 33.0; 4.06-268.32) and the only independent predictor of SVR in HCV genotype 2 (OR 9.0, 1.72-46.99) or genotype 3 patients (OR 7.8, 1.43-42.67).In HCV genotype 1 patients, IL28B polymorphisms, HCV RNA load and IP-10 independently predict RVR. The combination of IL28B polymorphisms, HCV RNA level and age may yield more accurate pre-treatment prediction of SVR. HOMA-IR score is not associated with viral response.

The literature contains conflicting reports on the association of common variants of the interleukin (IL)-4 receptor alpha (IL4RA) gene with atopic asthma. The purpose of the present study was to investigate the linkage and association of several gene polymorphisms with atopic asthma in a large series of well-characterized individuals. Analysis of five polymorphisms (I50V, E375A, C406R, S478P and Q551R) of the IL4RA gene was performed in 823 individuals from 182 families with atopic asthmatic children from north-east Italy. The subjects were tested for clinical asthma, total serum IgE level, skin prick test positivity to common aeroallergens, and bronchial hyperresponsiveness to methacholine. The frequency of the polymorphisms was similar to that reported for other populations. The 375, 406, 478 and 551 polymorphisms were in linkage disequilibrium, as previously reported. No linkage or transmission disequilibrium was observed in the families between any mutation and any of the phenotypes investigated. No multipoint haplotype was associated with any phenotype. In conclusion, the IL4RA gene does not seem to play an important role in genetic predisposition to atopic asthma in the population tested.

Allergic asthma is a multifactorial disease for which there is a widely assessed, although poorly understood, genetic involvement. Genome-wide screens reported evidence for linkage of allergic asthma-related phenotypes to several chromosomal locations. Markers on chromosome 19 have been linked to allergic asthma phenotypes in different populations in independent studies.The aim of this study was to perform a genetic linkage analysis on chromosome 19 to search for DNA markers linked to phenotypes related to allergic asthma.Using non-parametric multipoint linkage analysis on a total of 22 random DNA markers in 2 stages, a sample of 111 families (542 subjects) from north-eastern Italy, recruited through an asthmatic allergic proband, was investigated. Phenotypes examined were: clinical asthma, total serum elevated IgE, skin prick test positivity, bronchial hyper-responsiveness, and atopy defined as skin prick test positivity and/or elevated IgE. Simulation studies were performed to confirm the significance of the results.A novel linkage of atopy and skin prick test positivity to marker D19S601 (19q13.3) was found. Modest evidence for linkage of atopy, skin prick test positivity, and IgE was also found to marker D19S591 (19p13.3). Simulation analysis for atopy gave an NPL-Z3.326 in 2 replicates out of 1000 (P = 0.002) for D19S601, and an NPL-Z2.56 in 16 replicates out of 1000 (P = 0.016) for D19S591.On chromosome 19, suggestive linkage of atopy and skin prick test positivity with marker D19S601 (19q13.3) and modest evidence of linkage of marker D19S591 (19p13.3) to the atopic phenotypes investigated were found. These results suggest that these regions may contain susceptibility loci associated to atopic phenotypes.

To identify genetic factors for susceptibility to atopy and asthma in childhood, 1,083 subjects were identified, mainly from the Veneto region and Bolzano province in North-east Italy, of whom 817 were from 172 families with at least two affected people, 189 were sporadic cases, and 77 unrelated controls. All the subjects were characterized for clinical asthma (asthma), total serum IgE (IgE), skin prick test (SPT) reactivity to common aeroallergens and bronchial hyperresponsiveness (BHR) to methacoline test. Atopy was defined as SPT positivity and/or increased IgE levels. Several candidate genes were investigated, and genome-wide linkage analysis was been initiated. The high affinity IgE receptor beta chain (FcepsilonRIbeta) locus showed significant allele sharing in affected sib-pairs for BHR and for SPT positivity. Lymphotoxin alpha (Ltalpha) gene Ncol mutation showed a suggestive linkage with atopy, and the LTalphaNcol 2/2 genotype was found to be associated with increased total IgE levels in all females. No evidence for linkage or association of any phenotype to the tumour necrosis factor alpha (TNFalpha) - 308 mutation or to the interleukin 4 receptor alpha (IL-4Ralpha) Q576R mutation was found. BHR, asthma and increased IgE were found to be linked to X and Y long arm pseudoautosomal region (PAR2) markers. Initial data were also collected from linkage analysis with chromosome 12, 14, and 19, DNA markers. Non-parametric multipoint analysis provides preliminary evidence for linkage of asthma with D12S390, of atopy with D19S601, and of BHR with D14S617. These results suggest that several genetic factors contribute to different allergic asthma phenotypes in the population investigated.

OBJECTIVE: The objective of this study was to replicate an association study on a newly collected Italian autism spectrum disorder (ASD) cohort by studying the genetic markers associated with ASDs from recent genome-wide and candidate gene association studies. METHODS: We have genotyped 746 individuals from 227 families of the Italian Autism Network using allelic discrimination TaqMan assays for seven common single-nucleotide polymorphisms: rs2292813 (SLC25A12 gene), rs35678 (ATP2B2 gene), rs4307059 (between CDH9 and CDH10 genes), rs10513025 (between SEMA5A and TAS2R1 genes), rs6872664 (PITX1 gene), rs1861972 (EN2 gene), and rs4141463 (MACROD2 gene). A family-based association study was conducted. RESULTS: A significant association was found for two of seven markers: rs4307059 T allele (odds ratio: 1.758, SE=0.236; P-value=0.017) and rs35678 TC genotype (odds ratio: 0.528, SE=0.199; P-value=0.0013). CONCLUSION: A preferential allele transmission of two markers located at loci previously associated with social and verbal communication skill has been confirmed in patients of a new ASD family sample.

In questo lavoro viene presentata una ricognizione generale delle attuali conoscenze nel campo delle ricerche archeozoologiche di alcune aree geografiche italiane (Province del Nord-Est, Etruria meridionale, Tavoliere e Sibaritide) nella tarda età del Bronzo, considerando i relativi aspetti sia quantitativi che qualitativi.

I resti faunistici rinvenuti negli scavi condotti nel castello cinquecenteso ci forniscono un quadro della loro importanza economica e alimentare a Muro Leccese tra il XV e il XVII secolo. La quantità di frammenti ossei riferibili alle principali forme di animali domestici sembra indicare un prevalente consumo di ovicaprini, maiali e polli rispetto ai bovini. Tra gli scarsi animali selvatici presenti abbondano solo le piccole prede come lepri, volpi, ricci probabilmente cacciati con lacci e trappole.È quasi assente la grossa selvaggina (cervo). Significativa la presenza della gru probabilmente riservata alla tavola padronale. È documentata la raccolta dei testudinati e delle chiocciole terrestri e il consumo di pesce e molluschi marini.

Gotihawa si trova nel Tarai nepalese, la fascia pianeggiante ai confini con l’India. Il sito è noto perché vi sorge parte di una colonna votiva eretta dall’imperatore maurya Ashoka (III sec. a.C.) e perché fa parte di un ristretto numero di siti legati alla fase iniziale del Buddhismo. Gli scavi, organizzati dall’Istituto per l’Africa e l’Oriente di Roma, hanno portato alla luce la fondazione della colonna, il grande stupa che vi sorge accanto e, nella parte più antica del deposito, un abitato (VII-V sec. a.C.). Tali ricerche hanno come obiettivo di stabilire una sequenza affidabile per l’archeologia medio-gangetica, e di chiarire quindi importanti aspetti della storia del Buddhismo. I resti animali oggetto di questa breve nota provengono da alcune unità stratigrafiche indagate negli anni 1998 e 1999. I frammenti ossei appartengono in prevalenza a bovini o bufali, tuttavia la percentuale degli animali selvatici (circa il 25%) indica che la caccia, esercitata soprattutto su grossi cervidi come il sambar (Cervus unicolor), il barasingha (Cervus duvauceli) e il muntjak (Muntiacus muntjak), non era di importanza secondaria.