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Autosomal recessive postaxial polydactyly type A in a Sicilian family.

Postaxial polydactyly type A was present in several members of a Sicilian family. The anomaly was probably transmitted as an autosomal recessive character. Two polydactylous subjects were also beta-thalassaemia carriers, but a linkage between the two mutant genes could be excluded. Two patients with hexadactyly had a fifth digital triradius.

Acute Respiratory Tract Infections (ARTIs) in Children after COVID-19-Related Social Distancing: An Epidemiological Study in a Single Center of Southern Italy.

UNLABELLED: In Sicily (Italy), respiratory syncytial virus (RSV), rhinovirus (HRV), and influenza virus triggered epidemics among children, resulting in an increase in acute respiratory tract infections (ARTIs). Our objective was to capture the epidemiology of respiratory infections in children, determining which pathogens were associated with respiratory infections following the lockdown and whether there were changes in the epidemiological landscape during the post-SARS-CoV-2 pandemic era. MATERIALS AND METHODS: We analyzed multiplex respiratory viral PCR data (BioFire® FilmArray® Respirato…

Leptospira interrogans Serogroup Pomona in a Dairy Cattle Farm in a Multi-Host Zootechnical System.

Bovine leptospirosis is an infectious zoonotic disease causing reproductive problems and economic losses in livestock. This work reports, for the first time in Sicily (South Italy), an outbreak of Leptospira interrogans serogroup Pomona that occurred in cattle farms within the Nebrodi Park and was mainly characterized by full-term abortion. Blood and urine samples were collected at different time points from animals of six different farms (Farms A-F) sharing the same grazing area. Research of antibodies against pathogenic Leptospira species in serum samples was carried out via Micro Agglutinat…

Diagnostic and Prognostic Value of Three microRNAs in Environmental Asbestiform Fibers-Associated Malignant Mesothelioma.

Fluoro-edenite (FE) is an asbestiform fiber identified in Biancavilla (Sicily, Italy). Environmental exposure to FE has been associated with a higher incidence of malignant mesothelioma (MM). The present study aimed to validate the predicted diagnostic significance of hsa-miR-323a-3p, hsa-miR-101-3p, and hsa-miR-20b-5p on a subset of MM patients exposed to FE and matched with healthy controls. For this purpose, MM tissues vs. nonmalignant pleura tissues were analyzed through droplet digital PCR (ddPCR) to evaluate differences in the expression levels of the selected miRNAs and their MM diagnos…

Sheep lymph-nodes as a biological indicator of environmental exposure to fluoro-edenite.

A significantly increased incidence of pleural mesothelioma in Biancavilla (Sicily, Italy) has been attributed to exposure to fluoro-edenite (FE), a fibrous amphibole extracted from a local stone quarry. The lymph-nodes draining the pulmonary lobes of sheep grazing around the town were examined, to gain insights into fibre diffusion. The pasture areas of six sheep flocks lying about 3km from Biancavilla were located using the global positioning system. The cranial tracheobronchial and one middle mediastinal lymph-node as well as four lung tissue samples were collected from 10 animals from each…

Epidemiological markers of Shigella sonnei infections: R-plasmid fingerprinting, phage-typing and biotyping.

In 1980, the number of Shigella sonnei strains isolated in Sicily increased markedly. Approximately 80% of the isolates belonged to phage-type 3 and showed the same antibiotic resistance pattern, suggesting that an epidemic had been going on for several months. Plasmid analysis of strains isolated at various times in different places supported this view. Agarose gel electrophoresis of plasmid preparations from seven selected phage-type 3 isolates showed the presence of two plasmids, of 80 megadaltons (Mdal) and 55 Mdal, respectively. In addition, all but one harboured a 2.8-Mdal plasmid, while…

Low-grade haemolysis and assessment of iron status during the steady state in G6PD-deficient subjects.

We evaluated the iron status of 50 Sicilian patients with G6PD deficiency under steady-state conditions and compared our results with those for 50 control patients. We studied haemolysis and iron indices to evaluate the iron balance. These patients could be considered to be at risk of iron overload as a result of increased bone marrow activity. Reticulocytosis and macrocytosis with reduced levels of haptoglobin were found in the G6PD-deficient subjects, both of which are evidence of a moderate haemolysis. Iron status within the normal range, without iron overload or iron deficiency, was found.

Concordance between CDKN2A homozygous deletion and MTAP immunohistochemical loss in fluoroedenite-induced pleural mesothelioma: An immunohistochemical and molecular study on a single-institution series.

Fluoroedenite-induced pleural mesothelioma (FE-induced-PM) is a rare and small subset of PM that shares with its asbestos-induced counterpar … ents with environmental exposure to FE fibers, who were residents in the small town of Biancavilla (Sicily, Italy) or nearby areas. CDKN2A homozygous deletions were found in 3 out of 10 cases (30%) and all these cases showed concomitant cytoplasmic loss of MTAP with a concordance rate of 100%. Despite the relatively low number of cases included in our se …

Cistus salviifolius Toxicity in Cattle.

Toxicity related to consumption of Cistus sp. pl. has been described in ruminants in some countries. This report describes the clinical and pathological findings of Cistus salviifolius toxicosis in 3 beef cattle herds located in 2 different areas of Sicily, Italy. Outbreaks were observed after grazing in poor winter pasture where C. salviifolius was abundant. Mean morbidity and mortality were 29% and 21%, respectively. Most of the affected animals (6 to 36 months old) showed anorexia, weight loss, and pollakiuria culminating in recumbency and death. Occasionally, abortion and neurological sign…

Environmental Surveillance of Legionellosis within an Italian University Hospital-Results of 15 Years of Analysis.

Legionnaires' disease is normally acquired by inhalation of legionellae from a contaminated environmental source. Water systems of large and old buildings, such as hospitals, can be contaminated with legionellae and therefore represent a potential risk for the hospital population. In this study, we demonstrated the constant presence of Legionella in water samples from the water system of a large university hospital in Messina (Sicily, Italy) consisting of 11 separate pavilions during a period of 15 years (2004⁻2018). In total, 1346 hot water samples were collected between January 2004 and Dece…

TaqMan-based detection of Leishmania infantum DNA using canine samples.

Leishmaniasis is a typical example of a worldwide diffused zoonosis. Geographic distribution depends on the presence of sand fly vectors and animal reservoirs. In Southern Europe, canines are considered the main reservoir of infection, and the phlebotomines are the vectors. In Sicily, as in all Mediterranean areas, sand flies are present almost all year around because the climate permits an uninterrupted lifecycle for the vectors. Visceral leishmaniasis is becoming a real public health concern especially in endemic areas; in fact, it is an opportunistic infection in immunocompromised patients …

[Treatment of postmenopausal osteoporosis with etidronate].

BACKGROUND: Osteoporosis is a widespread social disease as it is considered to be the most common pathology affecting bone metabolism in the elderly. A group of patients suffering from post-menopausal osteoporosis have been treated with etidronate. METHODS: This controlled study was performed on 32 post-menopausal women aged between 53 and 66 suffering from post-menopausal osteoporosis, treated at the Department of Geriatrics of the University of Catania where patients mainly come from Sicily and Southern Italy. The diagnosis was made after clinical examination and humoral tests as well as co…

Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.

Creutzfeldt-Jakob disease (CJD) belongs to a group of prion diseases that may be infectious, sporadic, or hereditary. The 200K point mutatio … d a family of Polish origin show another unique haplotype. The haplotypes in families from Germany, Sicily, Austria, and Japan are different from the Mediterranean or eastern European haplotypes. On the basis of this study, we conclude that founder effect and independent mutational events are responsible for the current geographic distribution of heredit …

rDNA fingerprinting as a tool in epidemiological analysis of Salmonella typhi infections.

Characterization of 169 strains of Salmonella typhi of phage types C1, C4, D1 and D9 isolated in 1975-88 was carried out by rDNA gene restriction pattern analysis. Twenty-four isolates had been recovered during four large waterbone outbreaks in the last 20 years in Sicily; 145 strains, isolated from apparently sporadic cases of infection in Southern Italy in the same period of time, were also examined. Application of rRNA-DNA hybridization technique after digestion of chromosomal DNA with Cla I showed the identity of patterns of the epidemic strains of phage types C1 and D1, confirming attribu…

The Automatic Correction Boluses in an Advanced Hybrid Closed-Loop System: Algorithm Performance and Clinical Implications.

BACKGROUND: Automatic correction boluses (ABs) are a key feature of advanced hybrid closed-loop systems, yet their clinical relevance remains incompletely characterized. METHODS: We retrospectively analyzed insulin delivery and continuous glucose monitoring (CGM) data from 287 individuals with type 1 diabetes using the MiniMed 780G for ≥6 months with ≥80% auto-mode usage, recruited from four diabetes centers in Sicily. We quantified the contribution of ABs to total daily insulin dose (TDD) and total bolus insulin and evaluated associations with demographic factors, pump settings, and dietary …

Genetic Variability of Loci Affecting Meat Quality and Production in Nero Siciliano Pig Breed.

Nero Siciliano (NS) is an autochthonous pig breed reared in northeastern Sicily; despite its high-quality meat products, NS is currently endangered. This study aimed to evaluate the genetic variability at nine loci within candidate genes for meat traits-Melanocortin 4 Receptor (MC4R), Ryanodine Receptor 1 (RYR1), Class 3 Phosphoinositide 3-Kinase (PIK3C3) and Leptin (LEP)-to provide useful information for preservation and exploitation of the NS pig breed. Distribution of the genetic variants was assessed in a representative sample of 87 pigs (18 boars and 69 sows) collected in nine farms locat…

Insights into recurring multi-country outbreaks of Salmonella Strathcona associated with tomatoes, Europe, 2011 to 2024.

Notifications of Salmonella Strathcona infections increased in Europe in 2023 prompting a multi-country outbreak investigation. We aimed to … e with a common source. Epidemiological and traceback investigations identified small tomatoes from Sicily as the suspect food vehicle. Stringent control measures at the source are needed to stop the contamination and prevent future cases.

Эффективность и безопасность атумумаба в реальном мире при повторном излучающем многообразном склерозе: Отличения от наивных и смена пациентов.

Офатумумаб (ОФА) является полностью человеческим антиCD20 моноклональным антителом, который продемонстрировал многообещающую эффективность в лечении повторного склероза (RMS) путем истощения клеток В и сокращения активности заболеваний. В рамках этого исследования, которое будет проводиться в реальном мире с использованием различных центров, была проведена оценка эффективности и безопасности ОФА для пациентов, страдающих наивной терапией, и лиц, которые переходят от других методов лечения, направленных на изменение характера заболеваний (ДМТ), включая натализумуб (НТЗ). Были проанализированы п

Совпадение в аннотации оригинала
Ofatumumab (OFA), a fully human anti-CD20 monoclonal antibody, has shown promising efficacy in treating relapsing multiple sclerosis (RMS) b … therapies (DMTs), including natalizumab (NTZ). RRMS patients initiating OFA at seven MS centers in Sicily and treated for at least 12 months were analyzed. Outcomes included annualized relapse rates (ARR), Expanded Disability Status Scale (EDSS), and the percentage of patients free from relapse, MRI activity, and confirmed EDSS worsening (CEW). Of 213 p …

A multicentric study of the disease risks and first manifestations in hereditary transthyretin amyloidosis (ATTRv): insights for an earlier diagnosis.

BACKGROUND: In hereditary transthyretin amyloidosis (ATTRv), early manifestation and age at onset (AO) may vary strikingly. We assessed the disease'risk (penetrance), AO and initial features in ATTRv families to gain insights on the early disease presentation. METHODS: Genealogical information, AO and first disease manifestations were collected in ATTRv families, from Sweden, Italy (Sicily), Spain (Mallorca), France, Turkey, Brazil. Penetrance was computed using a non-parametric survival method. RESULTS: We analysed 258 TTRV30M kindreds and 84 carrying six other variants (TTRT49A, F64L, S77Y…