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Idiopathic non-histaminergic acquired angioedema (InH-AAE) is a rare disease, with unknown etiology and pathogenesis, characterized by recurrent clinical manifestations and resistance to antihistamines and corticosteroids. We aim to evaluate clinical features and potential markers of disease in an Italian cohort of patients with InH-AAE. We enrolled 26 patients diagnosed with InH-AAE. Information about clinical features, treatments, routine laboratory investigations, immunological and genetic tests were collected. We assessed plasma levels of complement components, angiogenic and lymphangiogenic mediators, proinflammatory cytokines and chemokines, and activity of phospholipases A2. Finally, patients underwent nailfold videocapillaroscopy (NVC); both quantitative and qualitative capillaroscopic parameters were analyzed. Plasma levels of VEGFs were similar in healthy controls and in InH-AAE patients. ANGPT1 was decreased in InH-AAE patients compared to controls while ANGPT2 was similar to controls. Interestingly, the ANGPT2/ANGPT1 ratio (an index of vascular permeability) was increased in InH-AAE patients compared to controls. sPLA2 activity, elevated in patients with C1-INH-HAE, showed differences also when measured in InH-AAE patients. TNF-α concentration was higher in InH-AAE patients than in healthy controls, conversely, the levels of CXCL8, and IL-6 were similar in both groups. At the NVC, the capillary loops mainly appeared short and tortuous in InH-AAE patients. InH-AAE represents a diagnostic challenge. Due to the potential life-threatening character of this condition, a prompt identification of the potentially bradykinin-mediated forms is crucial. A better comprehension of the mechanism involved in InH-AAE would also lead to the development of new therapeutic approaches to improve life quality of patients affected by this disabling disease., Competing Interests: Declarations Competing interests The authors declare no competing interests. Conflict of interest None., (© 2024. The Author(s).)

Background and Objectives: Knee osteoarthritis is a serious burden for modern countries. Timing of surgery and treatment choice are still a matter of controversy in the orthopedic literature. The purpose of this study was to ascertain the incidence and hospitalization trends of high tibial osteotomy in Italy from 2001 to 2016. Materials and Methods: Data are sourced from the National Hospital Discharge Reports (SDO) of the Italian Ministry of Health between 2001 and 2016. Results: A total of 34,402 high tibial osteotomies were performed over the study period in Italy. The cumulative incidence was 3.6 cases per 100,000 residents. The age classes 50-54, 55-59 showed the higher number of procedures. In pediatric patients (0-19 years), high tibial osteotomies are also largely performed. The majority of patients having surgery were men with a M/F ratio of 1.5. The mean age of patients was 44.2 ± 19.2 years. Males were significantly younger than females (43.3 ± 20.7 vs. 45.6 ± 17.7). The average length of hospitalization was 6.1 ± 7.3 days. Over the course of the analysis, a declining trend in hospital stay length was seen. The main primary diagnosis codes were "Varus knee" (736.42 ICD-9-CM code, 33.9%), "Osteoarthrosis, localized, primary, leg region" (715.16 ICD-9-CM code, 9.5%). Conclusions: Over the study period, high tibial osteotomies in Italy almost halved. Varus deformity and knee osteoarthritis are the leading causes requiring high tibial osteotomy. Except for the pediatric setting, results showed that from the 20-24 age class to the 50-54 age class, there was an increasing request for knee osteotomy, whereas in those aged >60 years, the incidence progressively decreased. The evident decline in HTO performed over the years in Italy seems to reflect a minor role for knee osteotomy in the management of knee OA, as it seems to be primarily reserved for younger male patients.

The COVID-19 pandemic drastically affected many areas and contexts of today's society, including school and family. Several studies focused on the worldwide effects of school closures on students' learning outcomes, context, and well-being. However, the data emerging from these studies are often inconsistent and fragmentary, highlighting the need of a comprehensive analysis of the phenomenon. This need is especially urgent for the countries with the most severe school closure, like Italy. This systematic review aims to collect the opinions of parents, teachers, and students on: other dimensions of Italian primary school students affected by school closures, beyond academic performance; hypothetical agreement between the opinions of parents, teachers, and students regarding the different effects of school closures on Italian primary school students; possible differences between the effects of school closures on Italian primary school students and the students in other countries. Our search was conducted using PRISMA 2020 guidelines on Web of Science, Pubmed, Scopus, and EBSCOHost. The results obtained from 34 articles revealed a strong concern on the part of all stakeholders involved in learning during the pandemic, with evident negative effects for Italian school students. The constraint on distance learning led to a drastic change in everyone's routine, and a negative emotional change on the part of young students. Parents and teachers generally considered distance learning to be ineffective for the education of their children and students; they encountered technical-practical difficulties in the use of electronic devices for participation in school activities; overall learning deficits on the part of students, especially in mathematics, as confirmed by INVALSI results were also found. The investigation reveals a condition of shared emotional and academic performance difficulty, and a further challenging circumstance for students previously at risk of marginalization. Further research in this field is paramount to identify new and adequate recovery strategies., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Trotta et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Neurodevelopmental disorders are a group of complex multifactorial disorders characterized by cognitive impairment, communication deficits, abnormal behaviour, and/or motor skills resulting from abnormal neural development. Copy number variants (CNVs) are genetic alterations often associated with neurodevelopmental disorders. We evaluated the diagnostic efficacy of the array-comparative genomic hybridization (a-CGH) method and its relevance as a routine diagnostic test in patients with neurodevelopmental disorders for the identification of the molecular alterations underlying or contributing to the clinical manifestations. In the present study, we analysed 1800 subjects with neurodevelopmental disorders using a CGH microarray. We identified 208 (7%) pathogenetic CNVs, 2202 (78%) variants of uncertain significance (VOUS), and 504 (18%) benign CNVs in the 1800 patients analysed. Some alterations contain genes potentially related to neurodevelopmental disorders including CHRNA7 , ANKS1B , ANKRD11 , RBFOX1 , ASTN2 , GABRG3 , SHANK2 , KIF1A SETBP1 , SNTG2 , CTNNA2 , TOP3B , CNTN4 , CNTN5 , and CNTN6 . The identification of interesting significant genes related to neurological disorders with a-CGH is therefore an essential step in the diagnostic procedure, allowing a better understanding of both the pathophysiology of these disorders and the mechanisms underlying their clinical manifestations.

Introduction: This study aimed to estimate separately in women and men the number of Total knee arthroplasty (TKA) procedures performed in Italy from 2001 to 2016, exploring specific gender-related characteristics and trends., Materials and Methods: Data of this study were collected from the National Hospital Discharge Reports (NHDR) reported at the Italian Ministry of Health in the years between 2001 and 2016. The information included in this archive are the patient's sex, age, the year when the surgical procedure was performed and the length of the hospitalization., Results: Between the years 2001 and 2016, a total of 848,863 TKAs have been performed in Italy. TKAs in women passed from 20,719 in 2001 to 49,320 in 2016 showing an increase of 138%, while TKAs in men passed from 6631 in 2001 to 23,601 in 2016 showing an increase of 256%. From the age of 50 onwards, there was a prevalence of procedures in women, from 63.2% in the 50-54 group to 85.7% in the 100 + group. Conversely, under the age of 50, there was a higher percentage of surgeries performed in males, 57.1% on a total of 16,434 TKA surgeries carried out in this age group., Conclusions: This study showed that TKA is growing and heavily affecting the female population (70.6% of all TKAs) between 2001 and 2016. However, under 50 years old there was a higher percentage of surgeries performed in males (57.1%). The average number of days of hospitalization in females was higher than in males., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

The present study aimed to evaluate the yearly number of Colles' fractures in Italy from 2001 to 2016, based on official information found in hospitalization records. A secondary aim was to estimate the average length of hospitalization for patients with a Colles' fracture. A tertiary aim was to investigate the distribution of the procedures generally performed for Colles' fractures' treatment in Italy. An analysis of the National Hospital Discharge records (SDO) maintained at the Italian Ministry of Health, concerning the 15 years of our study (from 2001 to 2016) was performed. Data are anonymous and include the patient's age, sex, domicile, length of hospital stays (days), primary diagnoses and primary procedures. From 2001 to 2016, 120,932 procedures for Colles' fracture were performed in Italy, which represented an incidence of 14.8 procedures for every 100,000 adult Italian inhabitants. The main number of surgeries was found in the 65-69- and 70-74-year age groups. In the present study, we review the epidemiology of Colles' fractures in the Italian population, the burden of the disease on the national health care system (in terms of length of hospitalization) and the distribution of the main surgical procedures performed for the treatment of the disease.

This study aims to determine the annual incidence of proximal femoral fractures in Italy in the period between 2001 and 2016 among older adults, and to describe the trends in the clinical management of these cases. Data were retrieved from the National Hospital Discharge records issued by the Italian Ministry of Health and from the Italian Institute for Statistics. The number of hospitalizations increased between 2001 and 2016, while the age-adjusted yearly incidence decreased from 832.2 per 100,000 individuals to 706.2. The median age was 83 years (IQR 78-88) with a large majority of females (76.6%). The type of fracture varied with age in female subjects, with older women more frequently reporting pertrochanteric fractures. Therapeutic strategies for the different types of fracture depended on patients' age. During the study years, improvements in fracture classification and management strategies were observed, with a clear decreasing trend for non-operative solutions. In conclusion, the number of proximal femur fractures in older adults is growing, even if at a lower rate compared to population aging. The Italian surgical practice changed during the study period towards the implementation of the most recent guidelines.

Inherited retinal diseases (IRDs) are the leading cause of vision loss in the working-age population. We performed a retrospective epidemiological study to determine the genetic basis of IRDs in a large Italian cohort (n = 2790) followed at a single referral center. We provided, mainly by next generation sequencing, potentially conclusive molecular diagnosis for 2036 patients (from 1683 unrelated families). We identified a total of 1319 causative sequence variations in 132 genes, including 353 novel variants, and 866 possibly actionable genotypes for therapeutic approaches. ABCA4 was the most frequently mutated gene (n = 535; 26.3% of solved cases), followed by USH2A (n = 228; 11.2%) and RPGR (n = 102; 5.01%). The other 129 genes had a lower contribution to IRD pathogenesis (e.g. CHM 3.5%, RHO 3.5%; MYO7A 3.4%; CRB1 2.7%; RPE65 2%, RP1 1.8%; GUCY2D 1.7%). Seventy-eight genes were mutated in five patients or less. Mitochondrial DNA variants were responsible for 2.1% of cases. Our analysis confirms the complex genetic etiology of IRDs and reveals the high prevalence of ABCA4 and USH2A mutations. This study also uncovers genetic associations with a spectrum of clinical subgroups and highlights a valuable number of cases potentially eligible for clinical trials and, ultimately, for molecular therapies., (© 2022. The Author(s).)

Hepatozoon spp. is the causative agent of a vector-borne parasitic disease in many animal species. In felids, Hepatozoon felis, Hepatozoon canis and Hepatozoon silvestris have been molecularly isolated. Hepatozoonosis usually causes asymptomatic infections in domestic cats, but clinical cases have recently been reported in Europe. We describe the first Italian case of hepatozoonosis in a cat with an unusual presentation. An 11-year-old neutered European shorthair cat was urgently hospitalized for intestinal intussusception. Hematology, biochemistry, FIV-FeLV tests, blood smears and molecular investigation targeting the 18S rRNA gene of Hepatozoon spp. were performed on blood samples; in addition, histological and molecular investigations were performed to analyze surgical samples to identify Hepatozoon infection. Hepatozoon gamonts were detected in granulocytes in the blood smear, and Hepatozoon spp. DNA was confirmed by PCR on blood. The intussusception was caused by a sessile endoluminal nodule that was surgically removed. Histologically, many elements referring to parasitic tissue forms were identified in the intestinal cells, and then the specimens were molecularly confirmed to harbor H. silvestris. This is the first description of symptomatic hepatozoonosis in a domestic cat in Italy. Hepatozoon silvestris has been described in wild felids, which are usually resilient to the infection, whereas the domestic cat seems to be more susceptible. Indeed, H. silvestris in cats usually presents tropism for skeletal muscle and myocardium with subsequent clinical manifestations. This is the first description of a domestic cat with H. silvestris localized in the intestinal epithelium and associated with intussusception., (© 2022. The Author(s).)

Background: Over the past two decades, there has been an increase in the amount of primary total hip arthroscopies (THA) which in turn has increased the need for THA revision surgeries. The purpose of this study was to quantify the increase in THA revision in Italy, evaluate the causes and types of THA procedures performed., Methods: The data regarding revision hip prosthetic replacements performed both in public and private structures between 2001 and 2015 was collected by the National Hospital Discharge reports (SDO) carried out by the Italian Ministry of Health., Results: Overall, 109,746 Revision Hip Replacements (RHR) were performed in Italy from 2001 to 2015 in the adult population. The study shows a greater number of female patients underwent surgery between 2001 and 2015 and the 75- to 79-year age group had the highest incidence of THA revision. The main causes for THA revision were found to be "Mechanical complication of internal orthopedic device implant and graft" (31.5%), "Infection and inflammatory reaction due to internal joint prosthesis" (10.5%) and "Mechanical loosening of prosthetic joint" (8.3%)., Conclusions: Revision hip replacement is growing and heavily affecting the population between 65 and 89 years and the main causes of THA revision have been quantified. The average length of hospitalization (LOS) was found to have decreased over the 14-year study period. Understanding the causes and risk factors for revision is essential in identifying avoidable complications and improving preventative care for patients undergoing primary implantation to decrease the revision burden., (© 2022. The Author(s).)

Brown trout ( Salmo trutta ), like many other freshwater species, is threated by the release in its natural environment of alien species and the restocking with allochthonous conspecific stocks. Many conservation projects are ongoing and several morphological and genetic tools have been proposed to support activities aimed to restore genetic integrity status of native populations. Nevertheless, due to the complexity of degree of introgression reached up after many generations of crossing, the use of dichotomous key and molecular markers, such as mtDNA, LDH-C1 * and microsatellites, are often not sufficient to discriminate native and admixed specimens at individual level. Here we propose a reduced panel of ancestry-informative SNP markers (AIMs) to support on field activities for Mediterranean trout management and conservation purpose. Starting from the genotypes data obtained on specimens sampled in the main two Molise's rivers (Central-Southern Italy), a 47 AIMs panel was identified and validated on simulated and real hybrid population datasets, mainly through a Machine Learning approach based on Random Forest classifier. The AIMs panel proposed may represent an interesting and cost-effective tool for monitoring the level of introgression between native and allochthonous trout population for conservation purpose and this methodology could be also applied in other species.

Background: The epidemiology of Pediatric Hip Arthroplasty (PHA) is unclear. Prevalence of PHA in Europe was reported in Scandinavian registries, but data on this procedure are not described in other countries. Therefore, it is challenging to redact a complete and valid epidemiological report on PHA in Europe. Nevertheless, national health statistics for PHA are helpful for an international audience, as different treatments are reported between countries. Moreover, sharing national statistics and correlating those to other countries' protocols could be helpful to compare outcomes for different procedures internationally. The principal purpose is to evaluate the yearly hospital admission for PHA in Italy., Methods: Data of this study were collected from the National Hospital Discharge Reports (SDO) reported at the Italian Ministry of Health., Results: From 2001 to 2015, 770 PHA hospitalizations were performed in Italy, with an incidence of 0.5 procedures for every 100,000 pediatric Italian inhabitants. The average age of patients was 15.2 ± 4.6 years. The mean length of days of hospitalization was 10.9 ± 8.6 days. The majority of patients were male of 15-19 years old age group. A progressive decrease in days of hospitalizations was found during the years of the study., Conclusions: In Europe, the incidence of hospital admission for PHA is not fully described. There is a lack of consensus on the best type of surgery to perform on young patients. Epidemiological studies are helpful to understand the national variation of a specific surgical procedure and compare them with other countries., (© 2022. The Author(s).)

Purpose: The aim of this 15-year nationwide study was to investigate the trend in ACL reconstructive surgeries in patients younger than 15 years old in Italy, as well as their social and economic impact., Materials and Methods: The National Hospital Discharge records (SDO) collected by the Italian Ministry of Health in the 15-year period between 2001 and 2015 were analyzed. This contains anonymous data including patients' age, gender, ICD-9-CM codes for diagnosis and intervention, census region, region of hospitalization, length of the hospitalization, and public or private reimbursement., Results: 1,350 ACL reconstructions were performed in Italy in the population younger than 15 years old, with an incidence rate ranging from 0.16 to 2.04 procedures per 100,000 age-matched individuals. Similarly, the percentage of surgeries in 0-14 year old patients increased with respect to the total number of ACL reconstruction from 0.13% in 2001 to 0.95% in 2015. The age range 10-14 years is the most involved, accounting for 97.3% of surgeries recorded in the study period. The male:female ratio was 1.05 and most of these procedures were performed in the North of Italy (78.3%)., Conclusion: ACL reconstructions in patients aged 10-14 years are increasing constantly since 2001, and thus, specific actions aimed to define the best management strategy as well as national educational programs to prepare the future surgeons to this new reality are mandatory in the interest of the public health., Level of Evidence: Level III.

Background: Italy was among the first countries hit by the pandemic of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. The application of strict lockdown measures disproportionately affected both cancer patient care as well as basic and translational cancer research., Materials and Methods: The Italian Cancer Society (SIC) conducted a survey on the effect of lockdown on laboratories involved in cancer research in Italy. The survey was completed by 570 researchers at different stages of their career, working in cancer centers, research institutes and universities from 19 Italian regions., Results: During the lockdown period, the impact of the COVID-19 pandemic emergency on face-to-face research activities was high, with a complete (47.7%) or partial (36.1%) shutdown of the laboratories. In the post-lockdown period, research activities were resumed in most of the respondents' institutions (80.4%), though with some restrictions (77.2%). COVID-19 testing was offered to research personnel only in ~50% of research institutions. Overall, the response to the pandemic was fragmented as in many cases institutions adopted different strategies often aimed at limiting possible infections without a clearly defined contingency plan. Nevertheless, research was able to provide the first answers and possible ways out of the pandemic, also with the contribution of many cancer researchers that sacrificed their research programs to help overcome the pandemic by offering their knowledge and technologies., Conclusions: Given the current persistence of an emergency situation in many European countries, a more adequate organization of research centers will be urgent and necessary to ensure the continuity of laboratory activities in a safe environment., Competing Interests: Disclosure The authors have declared no conflicts of interest., (Copyright © 2021 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Common variable immunodeficiency (CVID) is a complex primary immunodeficiency disorder characterized by a high clinical and genetic heterogeneity. The molecular underlying causes of CVID are not still now clear and the delays in diagnosis and treatment worsen the prognosis of the patients. MicroRNAs are non-coding, endogenous small RNAs often deregulated in human diseases, such as autoimmune and other immune-based disorders. In the present study, we aimed to evaluate miRNAs associated with the CVID and, in particular, with the response to the first Ig replacement therapy. To this aim, we compared miRNA profile obtained by serum samples of treatment-naïve CVID patients before and 24 h after the first Ig replacement therapy. For the first time, using a microarray assay followed by an integrated bioinformatics/biostatistics analysis, we identified five microRNAs (hsa-miR-6742, hsa-miR-1825, hsa-miR-4769-3p, hsa-miR-1228-3p, hsa-miR-1972) differently modulated in CVID patients by Ig infusion. All of them were down-regulated, excepted miR-6742 which was up-regulated. The latter may be of particular interest, since its functions are related to pathways involving Class I MHC mediated antigen processing and adaptive as well as innate Immune System. In conclusion, this study shows for the first time the modulation of miRNAs involved in CVID patients after the first Ig replacement therapy. Further studies are needed to assess whether such miRNAs could represent novel potential biomarkers in management and therapy of CVID patients.

Purpose: Rotator cuff (RC) disease is frequent and represents a common source of shoulder pain. The aim of this study is to analyse geographical differences in RC surgeries from 2001 to 2014 in Italy, a country with universal and free health care for its population., Methods: An analysis of the Italian National Hospital Discharge records from 2001 to 2014 was performed. These data are anonymous and include patient's age, sex, domicile, region of hospitalization, length of the hospitalization and type of reimbursement (public or private). National and regional population data were obtained from the National Institute for Statistics (ISTAT) for each year., Results: During the 14-year study period, 390,001 RC repairs were performed in Italy, which represented a mean incidence of 62.1 RC procedures for every 100,000 Italian inhabitants. Nevertheless, the incidence was very different if every single regional population is considered individually. Lombardy resulted to have the highest number of surgeries during the 14-year study period, with 27.95% (108,954) of the total national procedures performed in the 2001-2014 time span. More than half the surgeries (52.00%) were performed in only 3 regions of the northern part of Italy., Conclusions: This study shows the existence of geographical disparities in access to RC surgery and patients' necessity to migrate among regions in order to obtain it. Southern regions of Italy are characterized by a lower number of surgeries compared to the northern part of Italy.

Background: This study aims (1) to estimate the yearly number of Achilles tendon (AT) surgeries in Italy from 2001 to 2015 based on official hospitalization records; (2) to investigate the eventual presence of geographical variation in equity in access to AT surgery between three macroregions of Italy (North, Center and South); (3) to perform statistical projections of the number of AT procedure volumes and rates based on these data., Methods: We analysed the National Hospital Discharge records (SDO) maintained at the Italian Ministry of Health for a 15-year period, from 2001 through 2015. These data are anonymous and include the patient's age (evaluated in the class of age), sex, census region, the region of hospitalization, length of the hospitalization, public or private reimbursement and diagnosis., Results: During the 15-year study period, 118,652 AT repair were performed in Italy, whose peak of incidence was in 2010. More than half of AT repairs was performed in the North of Italy (52.1%), while 27.2% was performed in the South of Italy and 20.6% Center of Italy. The projection model predicted a slight growth of 2.65% in 2025 in comparison with 2015., Conclusion: The current study provides detailed information about the national population-weighted incidence of AT surgery, distribution and projection. The peak of average age was 35-45 year. The majority of AT procedures was performed in the North of Italy. The projection model predicts a slight growth of AT surgery by 2025. Furthermore, this 15-year nationwide registry study shows that the age of incidence of AT injuries shifted from 30 to 40 to 35-45 years compared to the available literature. The higher prevalence of AT surgery was found in men during the working age. Moreover, a low rate of procedures in pediatric and elder age classes was observed.

Limited knowledge is accessible concerning the tendencies of hospitalization for skeletally immature patients with episodes of shoulder dislocation. Our research aim was to evaluate annual hospitalizations for shoulder dislocation in paediatric patients in Italy from 2001 to 2014, on the basis of the official data source as hospitalization reports. The second purpose was to investigate geographical diversification in hospitalization for shoulder dislocation in regions of Italy. The last aim was to make statistical predictions of the number of shoulder dislocation hospitalization volumes and rates in skeletally immature patients based on data from 2001 to 2014. An examination of the National Hospital Discharge records (SDO) kept at the Italian Ministry of Health regarding the 14 years of our study (2001 through 2014) was conducted. These data are anonymous and include patient's age, gender, domicile, region and time of hospitalization, and the kind of reimbursement (public or private). In the 14-year study time, 344 hospitalizations for shoulder dislocation of patients aged 0-14 years took place in Italy. The male/female hospitalization ratio varied from a maximum of 3.0 (2001) to a minimum of 1.1 (2013), with a mean average ratio in the 2001-2014 timespan of 2.0. Almost half of the hospitalizations (49.1%) were performed in the South. The mean incidence of hospitalizations in Italy for shoulder dislocation in patients with less than 14 years was 0.3 for every 100,000 inhabitants in the same class of age. The most common treatment was a closed reduction (60.8%), followed by open stabilization (16.6%) and arthroscopic procedures (13.7%). The present registry study shows a low incidence of hospitalization for shoulder dislocation in young patients. The most common treatment for a shoulder dislocation in paediatric patients is a closed shoulder reduction. Regions from the south and the centre of Italy are marked by an inferior number of operations and a higher number of hospitalization for closed shoulder reduction.

Background: Soccer is the world's game, played by more than 120 million people. Different physical abilities, morphological and physiological characteristics are required for different playing positions. The purpose of this study is to describe anthropometric parameters and functional performances of goalkeepers, and these relationship with team success., Methods: The study population consisted of 92 professional goalkeepers from the Italian soccer "Serie A" league. Anthropometric measurements and indicators of performance of matches were obtained from the Italian soccer league. Goalkeepers were divided into first-choice and substitutes., Results: Goalkeepers who played at least one match were significantly older and heavier than those who did not play any game (P<0.0001). Minutes on the pitch, goals conceded, total saves and saves from both play sets and free kicks were significantly higher in the first-choice goalkeepers as compared to substitutes. However, by comparing first-choice with substitutes no significant differences for the ratio between goals against and saves by minutes played were observed. A significant positive correlation between points obtained by the team and ratio of goals conceded by minutes played (R=0.55; P<0.0001) as well as ranking position of the team achieved at the end of the season and the ratio of total saves by minutes played (R=0.51; P=0.001) was observed. A significant but inverse correlation between points obtained by the team and goal conceded was reported (R=-0.80; P<0.0001), as well as point obtained and ratio of total saves by minutes played (R=0.51; P=0.001). A lower ratio of goals conceded by minutes played was a significant predictor of total points achieved by the team (β=0.712, SE=0.15; P<0.0001). Finally, a higher ratio of goal conceded by minutes played was also associated with a higher probability of success for the team at the end of the season. Goalkeepers who completed the season with a ratio of goal against by minutes played greater than 57.5 minutes had an increased probability of leading their team to the first 6 positions of the final ranking (OR=24.7, 95% CI: 2.1-297.3; P=0.01)., Conclusions: Performance activities of the goalkeepers included in the rosters of the Italian soccer league significantly influenced the success of their team. A lower ratio of goals conceded by minutes played resulted to be the most significant predictor of overall team success. The present research extended previous research underlining the central role of goalkeeper for team success.

The purpose of this study was to study the clinical and radiographic changes in the knee after arthroscopic partial meniscectomy (APM) at a long-term follow-up compared with the contralateral knee. We assessed 57 patients (38 males and 19 females) with pre- and postoperative weight-bearing radiography with a follow-up ranging from 5.1 to 12.1 years (mean: 8.1) to analyze prevalence and progression of knee osteoarthritis (OA) after APM. We stratified patients according to body mass index (BMI), type of lesion (degenerative vs. traumatic), and side of meniscectomy (medial, lateral, and medial plus lateral). Patients were evaluated both clinically with Knee Osteoarthritis Outcome Score (KOOS) and Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) score and radiographically with the Kellgren and Lawrence (K/L) score. Radiographic OA was defined as K/L grade 2 or worse. The prevalence of knee OA was 62.69% in the tibiofemoral compartment. The progression of knee OA was statistically significant, ranging from 17.2% preoperatively to 65.95% postoperatively ( p  = 0.001) in the medial compartment and from 17.64% preoperatively to 58.82% postoperatively ( p  = 0.0324) in the lateral compartment. The progression of knee OA in the patellofemoral compartment ranged from 5.26 to 42.10% ( p  = 0.001). The OA progression regarding BMI was higher into the obese group than the normal-weight group and greater in the degenerative group than the traumatic one. The mean KOOS was 72.01 and the mean WOMAC was 73.84. The Spearman's test showed a statistical significance between clinical and radiographic results. Patients in the obese, overweight, and degenerative tear group had a greater predisposition to OA in the tibiofemoral and patellofemoral compartments after meniscectomy. The level of evidence is III, retrospective study., Competing Interests: None declared., (Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.)

The present study was designed to test an emotion regulation framework to understand individual differences in personality disorder (PD) traits in a non-clinical sample. Specifically, we tested whether: selected dimensions of emotion dysregulation were differentially related to PD traits; and whether emotion dysregulation and impulsivity had independent associations with PD traits. A community sample of 399 individuals (mean age = 37.91; 56.6% males) completed self-report measures of PDs, emotion dysregulation and impulsivity. Emotion dysregulation facets and impulsivity had uniform bivariate associations with PD traits, but also evidenced unique associations in multiple regression analyses. Nonacceptance of emotional responses was the emotion dysregulation dimension underlying a wide array of PD. A limited repertoire of effective emotion regulation strategies was characteristic of cluster C PD, whereas emotional unawareness distinctly predicted schizoid PD. Antisocial PD traits were uniquely related to difficulties controlling impulsive behavior when upset. Finally, histrionic, narcissistic, and obsessive-compulsive PD were related to better self-reported emotion regulation. Impulsivity further explained a significant amount of variance in schizotypal, antisocial, borderline (positively), and obsessive-compulsive PD traits (negatively). If replicated in clinical samples, our findings will support the usefulness of targeting both emotional dysregulation and impulsivity in PDs psychotherapy., (Copyright © 2018. Published by Elsevier B.V.)

Purpose: The modified Japanese orthopaedic association scale (mJOA) is considered one of the most appropriate outcome measures for the assessment of cervical spondylotic myelopathy (CSM). Moreover, mJOA has been recognised among the key predictors of surgical outcome at a global level. To apply the mJOA successfully at an international level, it should be translated and culturally adapted in the native language of the investigators using this scale. A translated version of the mJOA or any other functional scale has never been studied within an Italian population affected by CSM. The aim of this study has been to describe translation, cultural adaptation and psychometric properties of the Italian version of the mJOA (mJOA-IT)., Methods: The mJOA-IT was developed following a forward-backward translation procedure. Psychometric properties were assessed on a cohort of patients with CSM undergone anterior or posterior decompression associated with stabilisation in lordosis., Results: The mJOA-IT proved to be a reliable outcome measure for CSM (internal consistency 0.60, test-retest stability 0.910, P < 0.001, inter-observer reliability 0.80, P < 0.001). The mJOA-IT was associated with the Nurick scale (r = -0.615) while it was not associated with NDI, SF-36 and SF-36 components. The mJOA-IT was also responsive (d = 0.867)., Conclusions: The mJOA-IT proved to be a reliable and valid tool to assess patients affected by CSM. This form is recommended to be used for clinical and research purposes in Italy, to promote the global standardisation of assessment tools and to compare studies on CSM worldwide.

Context: Thyroid carcinoma is one of the most common malignancies of the endocrine system, and, despite the high frequency of oncogene activation in thyroid neoplastic lesions, the tumor suppressor genes involved in thyroid carcinogenesis remain unidentified. Our previous data implicated a link between the CL2/CCDC80 gene and thyroid cancer., Objective: The objective of the study was to examine the expression of the CL2/CCDC80 gene in human thyroid carcinomas in the attempt to determine whether it plays a role in thyroid carcinogenesis., Design: We evaluated the expression of CL2/CCDC80 in a large number of thyroid neoplastic tissue samples differing in degree of malignancy. We also investigated the effects of its restoration in 2 human thyroid carcinoma cell lines characterized by very low levels of CL2/CCDC80 expression., Results: CL2/CCDC80 expression was much lower in almost all the thyroid carcinomas analyzed than in normal thyroid tissues and was lowest in follicular variants of papillary carcinomas. Loss of heterozygosity partially accounted for CL2/CCDC80 down-regulation in thyroid carcinoma samples. Restoration of CL2/CCDC80 expression in the 2 human thyroid anaplastic carcinoma cell lines resulted in a higher susceptibility to apoptosis and suppression of the malignant phenotype. CL2/CCDC80 expression positively regulated the expression of E-cadherin, thereby halting cancer progression., Conclusions: These results indicate that CL2/CCDC80 is a putative tumor suppressor gene in thyroid carcinogenesis.

Context: High-mobility group A1 (HMGA1) protein is a key regulator of insulin receptor (INSR) gene expression. We previously identified a functional HMGA1 gene variant in 2 insulin-resistant patients with decreased INSR expression and type 2 diabetes mellitus (DM)., Objective: To examine the association of HMGA1 gene variants with type 2 DM., Design, Settings, and Participants: Case-control study that analyzed the HMGA1 gene in patients with type 2 DM and controls from 3 populations of white European ancestry. Italian patients with type 2 DM (n = 3278) and 2 groups of controls (n = 3328) were attending the University of Catanzaro outpatient clinics and other health care sites in Calabria, Italy, during 2003-2009; US patients with type 2 DM (n = 970) were recruited in Northern California clinics between 1994 and 2005 and controls (n = 958) were senior athletes without DM collected in 2004 and 2009; and French patients with type 2 DM (n = 354) and healthy controls (n = 50) were enrolled at the University of Reims in 1992. Genomic DNA was either directly sequenced or analyzed for specific HMGA1 mutations. Messenger RNA and protein expression for HMGA1 and INSR were measured in both peripheral lymphomonocytes and cultured Epstein-Barr virus-transformed lymphoblasts from patients with type 2 DM and controls., Main Outcome Measures: The frequency of HMGA1 gene variants among cases and controls. Odds ratios (ORs) for type 2 DM were estimated by logistic regression analysis., Results: The most frequent functional HMGA1 variant, IVS5-13insC, was present in 7% to 8% of patients with type 2 DM in all 3 populations. The prevalence of IVS5-13insC variant was higher among patients with type 2 DM than among controls in the Italian population (7.23% vs 0.43% in one control group; OR, 15.77 [95% confidence interval {CI}, 8.57-29.03]; P < .001 and 7.23% vs 3.32% in the other control group; OR, 2.03 [95% CI, 1.51-3.43]; P < .001). In the US population, the prevalence of IVS5-13insC variant was 7.7% among patients with type 2 DM vs 4.7% among controls (OR, 1.64 [95% CI, 1.05-2.57]; P = .03). In the French population, the prevalence of IVS5-13insC variant was 7.6% among patients with type 2 DM and 0% among controls (P = .046). In the Italian population, 3 other functional variants were observed. When all 4 variants were analyzed, HMGA1 defects were present in 9.8% of Italian patients with type 2 DM and 0.6% of controls. In addition to the IVS5 C-insertion, the c.310G>T (p.E104X) variant was found in 14 patients and no controls (Bonferroni-adjusted P = .01); the c.*82G>A variant (rs2780219) was found in 46 patients and 5 controls (Bonferroni-adjusted P < .001); the c.*369del variant was found in 24 patients and no controls (Bonferroni-adjusted P < .001). In circulating monocytes and Epstein-Barr virus-transformed lymphoblasts from patients with type 2 DM and the IVS5-13insC variant, the messenger RNA levels and protein content of both HMGA1 and the INSR were decreased by 40% to 50%, and these defects were corrected by transfection with HMGA1 complementary DNA., Conclusions: Compared with healthy controls, the presence of functional HMGA1 gene variants in individuals of white European ancestry was associated with type 2 DM.

Background and Objectives: Hemoglobin (Hb) is an important nitric oxide (NO) buffer and a modulator of NO bioavailability. In addition, endothelial dysfunction is common in hypertensive patients, suggesting a pivotal role of hemoglobin concentration ([Hb]) in vascular function. To investigate the potential role of [Hb] in endothelium-dependent vasodilation, the relationship between Hb and endothelial function was tested in a group of patients with essential hypertension., Design, Setting, Participants, & Measurements: In this retrospective study, 174 nonsmoking, uncomplicated, never-treated hypertensives were enrolled. Endothelium-dependent and -independent vasodilation was assessed by measurement of forearm blood flow response during intra-arterial infusion of increasing doses of acetylcholine (ACh) and sodium nitroprusside (SNP) using strain-gauge plethysmography. Correlation with established risk factors of endothelial dysfunction was performed., Results: The vasodilatory response to ACh was inversely (P < 0.001) related to [Hb], and this relationship was dose dependent (P < 0.001), being minimal at the lowest dose and maximal at the highest dose. No association was found between Hb and the vasodilatory response to SNP. In a multiple linear regression model adjusted for Framingham risk factors (age, sex, BP, cholesterol, body mass index, glucose) and emerging risk factors (homeostasis model assessment index, C-reactive protein, estimated GFR), [Hb] maintained a strong and independent link with the vasodilatory response to ACh (P < 0.001)., Conclusions: In a large group of nonsmoking untreated hypertensives, [Hb] is inversely related to forearm endothelium-dependent vasodilation. [Hb] should be taken into account, especially in conditions associated with low [Hb], when performing vascular function studies.

Background: Postmenopausal women have an increased risk of adverse cardiovascular (CV) events. Similarly, chronic kidney disease (CKD) is a well established risk factor for CV disease and mortality., Design: We evaluated the effect of renal function on the risk of death and CV events in 1500 southern Italian postmenopausal women., Methods and Results: Renal function was estimated (e) by glomerular filtration rate (e-GFR) by Modification of Diet in Renal Disease equation. We classified postmenopausal women in two groups of e-GFR (ml/min per 1.73 m(2)): > or =60 (group 1) and less than 60 (group 2). The primary endpoint was major adverse CV events (MACE). The secondary endpoints were total events (MACE + death from any cause), coronary events, and stroke. During the follow-up (mean=72.6 months), there were 200 new CV morbid events. The rate of MACE (per 100 patient-years) was 1.88 and 2.98 in the two groups of e-GFR (P<0.0001). On univariate analysis, the incident risk of CV events was inversely related with the e-GFR values; similarly, in multiple Cox regression model, only the e-GFR maintained an independent association with MACE and secondary end-points., Conclusion: For the first time, we demonstrated that the reduction of e-GFR was associated with the increased risk of death and CV events, independently of traditional CV risk factors, menopause duration, and presence of metabolic syndrome.

Objectives: The aim of this study is to evaluate the potential impact of mutations in the promoter region of the L ferritin gene on its transcriptional activity., Design and Methods: To search for the presence of mutations in the promoter of the L gene, we amplified by PCR a DNA region of about 385 n.t. in 100 healthy subjects from Southern Italy., Results: A subject carrying a C to A transition in position -216 was identified. This transition causes an increased transcriptional activity in vitro. This finding was substantiated by Real Time Quantitative PCR, which showed increased levels of L ferritin mRNA., Conclusions: A previously unidentified mutation in the promoter region of the L ferritin gene was detected in an individual. Interestingly, this subject is affected by bilateral cataract, a disease that has been correlated, in a subset of patients, with high levels of circulating ferritin. We hypothesize that changes in the expression of the L ferritin might be linked, at least to a certain extent, to the pathogenesis of this rare eye disease.

The cyanobacterium Planktothrix rubescens Anagnostidis & Komarek (previously Oscillatoria rubescens DC ex Gomont) is present in several Italian lakes and it is known to produce cyanotoxins. The dynamics and toxin production of P. rubescens population in Lake Albano, a volcanic crater lake in Central Italy, has been studied for 5 years (January 2001-April 2005). Winter-spring superficial blooms with frequent scums were observed every year. Total microcystin (MC) levels were measured from April 2004 to October 2005 by liquid chromatography-tandem mass spectrometry. MC levels up to 14.2mug/l were measured, with high concentrations found in summer at a 20-25m depth. The intracellular toxin content varied between 1.5 (surface, January 2004) and 0.21pg/cell (surface, May 2004). Six different MCs were detected, the most abundant being two desmethyl-MC-RR isomers. Of the 13 water wells monitored in the Lake Albano area, two of them showed MC contamination during winter, confirming the ability of these toxins to migrate through groundwater towards public water sources. These results highlight the need for further studies on the mobility and fate of these pervasive cyanobacterial toxins.

Objective: To test whether weight loss may improve endothelial dysfunction in human obesity, we recruited 28 healthy obese subjects, aged 30-46 years, with BMI 30-43 kg/m(2)., Research Design and Methods: Endothelium-dependent and -independent vasodilation were investigated by intra-arterial infusion of increasing doses of acetylcholine (ACh; 7.5, 15, and 30 microg x ml(-1) x min(-1)) and sodium nitroprusside (0.8, 1.6, and 3.2 microg x ml(-1) x min(-1)). Insulin resistance was estimated by homeostasis model assessment (HOMA). Weight loss was obtained by caloric restriction and physical activity., Results: We observed a significant reduction in BMI (from 33.1 +/- 4.2 to 27.5 +/- 4.5 kg/m(2), -16.9%, P < 0.0001) and in waist circumference (from 108.2 +/- 12.1 to 96.8 +/- 12.9 cm, -10.5%, P < 0.0001). Weight loss was also associated with a significant increase in ACh-stimulated forearm blood flow (FBF), from 7.4 +/- 2.8 to 12.9 +/- 3.4 ml. 100 ml(-1) of tissue x min(-1) kg/m(2) (P < 0.0001). Multivariate regression analysis demonstrated that the only independent predictor of FBF was HOMA, accounting for 44.5% of the variation, whereas the addition of BMI explained another 2.3% of the variation., Conclusions: Our data demonstrate that energy-restricted diet associated with physical activity induce a significant and clinically relevant improvement in ACh-stimulated vasodilation in obese healthy subjects.

Neisseria meningitidis strains belonging to the hypervirulent lineage ET-37 and several unrelated strains are extremely UV sensitive. The phenotype is consequent to the presence of a nonfunctional recB(ET-37) allele carrying multiple missense mutations. Phenotypic analysis has been performed with congenic meningococcal strains harboring either the wild-type recB allele or the recB(ET-37) allele. Congenic recB(ET-37) meningococci, in addition to being sensitive to UV, were defective both in repair of DNA lesions induced by UV treatment and, partially, in recombination-mediated transformation. Consistently, the wild-type, but not the recB(ET-37), allele was able to complement the Escherichia coli recB21 mutation to UV resistance and proficiency in recombination. recB(ET-37) meningococci did not exhibit higher frequencies of spontaneous mutation to rifampin resistance than recB-proficient strains. However, mutation rates were enhanced following UV treatment, a phenomenon not observed in the recB-proficient counterpart. Interestingly, the results of PCR-based assays demonstrated that the presence of the recB(ET-37) allele considerably increased the frequency of recombination at the pilin loci. The main conclusion that can be drawn is that the presence of the defective recB(ET-37) allele in N. meningitidis isolates causes an increase in genetic diversity, due to an ineffective RecBCD-dependent DNA repair and recombination pathway, and an increase in pilin antigenic variation.

Several genes have been involved in the pathogenesis of hereditary breast/ovarian cancer (BOC), but mutations in the BRCA1 gene are by far the most recurrent. In this study, we report the identification of a founder mutation in a geographically and historically homogeneous population from Calabria, a south Italian region. A screening performed on 24 patients from unrelated families highlighted the high prevalence of a 5083del19 alteration in the BRCA1 gene, which accounts for 33% of the overall gene mutations. The same mutation was also detected in 4 patients, all of Calabrian origin, referred to us by research centres from the north of Italy. Allelotype analysis, performed on probands and unaffected family members revealed the presence a common allele, therefore suggesting a founder effect due to a common ancestor. Our findings underscore the importance of ethnic background homogeneity in patients' selection and highlight the usefulness of founder mutations as a potential tool for optimisation of preclinical diagnosis in gene carriers and therapeutic approaches in affected individuals., (Copyright 2001 Wiley-Liss, Inc.)

Iodine deficiency disorders and endemic goiter are still present in the population of Southern Italy, where the use of iodized salt is not widely diffused because of a lack of information and health education on this problem. The aim of this project financed by the "structural funds" (objective 1) of the European Union, is to eradicate endemic goiter and iodine deficiency in the population of Southern Italy. The project comprises various subsequent steps. Initially, the grade of iodine deficiency (measuring urinary iodine excretion) and the prevalence of endemic goiter (measuring thyroid volume by echography) will be evaluated in the whole schoolchildren population aged 12-14. In addition, a widespread promotional campaign on the mass media (newspaper, TV, etc.) will be performed in order to implement the use of iodized salt. Subsequently, the effect of this campaign to promote the use of iodized salt will be verified evaluating the increase of urinary iodine excretion and the decrease of enlarged thyroid volumes in the schoolchildren population.