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showing 10 items of 19225 documents
Polymorphisms within the ARNT2 and CX3CR1 Genes Are Associated with the Risk of Developing Invasive Aspergillosis.
2020
Invasive aspergillosis (IA) is a life-threatening infection that affects an increasing number of patients undergoing chemotherapy or allo-transplantation, and recent studies have shown that genetic factors contribute to disease susceptibility. In this two-stage, population-based, case-control study, we evaluated whether 7 potentially functional single nucleotide polymorphisms (SNPs) within the ARNT2 and CX3CR1 genes influence the risk of IA in high-risk hematological patients. We genotyped selected SNPs in a cohort of 500 hematological patients (103 of those had been diagnosed with proven or probable IA), and we evaluated their association with the risk of developing IA. The association of …
MARTX Toxin in the Zoonotic Serovar of Vibrio vulnificus Triggers an Early Cytokine Storm in Mice
2017
Vibrio vulnificus biotype 2-serovar E is a zoonotic clonal complex that can cause death by sepsis in humans and fish. Unlike other biotypes, Bt2 produces a unique type of MARTXVv (Multifunctional-Autoprocessive-Repeats-in-Toxin; RtxA13), which is encoded by a gene duplicated in the pVvBt2 plasmid and chromosome II. In this work, we analyzed the activity of this toxin and its role in human sepsis by performing in vitro, ex vivo, and in vivo assays. First, we demonstrated that the ACD domain, present exclusively in this toxin variant, effectively has an actin-cross-linking activity. Second, we determined that the whole toxin caused death of human endotheliocytes and monocytes by lysis and apo…
Prevalence of Listeria spp. and characterization of Listeria monocytogenes isolated from food products in Tetouan, Morocco
2018
A total of 1096 food samples were purchased in Tetouan, North-Western of Morocco, to examine the presence of Listeria spp. Eighty (7.3%) of the tested samples were found positive for the presence of Listeria spp., while L. monocytogenes was detected in 16 (1.5%) samples. L. monocytogenes isolates belonged to clonal complexes CC2 (PCR serogroup IVb) and CC199 (PCR serogroup Ila) and to 8 different combined AscI/Apal pulsed-field gel electrophoresis profiles. Core genome multilocus sequence typing (cgMLST) allowed to distinguish 12 different cgMLST types and revealed the presence of 3 clusters of closely-related isolates from different samples, suggesting the existence of common sources of co…
More Favorable Metabolic Impact of Three-Times-Weekly versus Daily Growth Hormone Treatment in Naïve GH-Deficient Children
2017
Objective. To evaluate whether two different regimens of weekly injections could lead to similar auxological and metabolic effects in children with growth hormone deficiency (GHD).Design. 32 GHD children (25 males, mean age 10.5 ± 2.2 yr) were randomly assigned to receive daily (group A, 16 patients) or TIW (group B, 16 patients) GHT for 12 months.Methods. Auxological parameters, insulin-like growth factor-I (IGF-I), glucose and insulin during OGTT, glycosylated hemoglobin (HbA1c), lipid profile, the oral disposition index (DIo), the homeostasis model assessment estimate of insulin resistance (Homa-IR), and the insulin sensitivity index (ISI).Results. After 12 months, both groups showed a s…
Pan-Asian adapted ESMO consensus guidelines for the management of patients with metastatic colorectal cancer: a JSMO-ESMO initiative endorsed by CSCO…
2017
The most recent version of the European Society for Medical Oncology (ESMO) consensus guidelines for the treatment of patients with metastatic colorectal cancer (mCRC) was published in 2016, identifying both a more strategic approach to the administration of the available systemic therapy choices, and a greater emphasis on the use of ablative techniques, including surgery. At the 2016 ESMO Asia Meeting, in December 2016, it was decided by both ESMO and the Japanese Society of Medical Oncology (JSMO) to convene a special guidelines meeting, endorsed by both ESMO and JSMO, immediately after the JSMO 2017 Annual Meeting. The aim was to adapt the ESMO consensus guidelines to take into account t…
Physician Perspectives on Unresolved Issues in the Management of Ulcerative Colitis: The UC Horizons Project.
2015
BACKGROUND There is still uncertainty about what constitutes the best therapeutic practice in ulcerative colitis (UC). OBJECTIVE The purpose of the "UC Horizons Project" was to raise a series of questions regarding the management of UC to provide responses based on the best scientific evidence available. METHODS The 11 members of the scientific committee prepared draft answers to the 10 questions from available evidence after a literature search. A total of 48 Spanish gastroenterology specialists nationwide participated in the project. The national meeting discussed the 10 issues in working groups and reached consensus regarding the recommendations by anonymous, interactive vote following t…
The role of immunogenetics in covid‐19
2021
Coronavirus disease 2019 (COVID-19) is induced by SARS-CoV-2 and may arise as a variety of clinical manifestations, ranging from an asymptomatic condition to a life-threatening disease associated with cytokine storm, multiorgan and respiratory failure. The molecular mechanism behind such variability is still under investigation. Several pieces of experimental evidence suggest that genetic variants influencing the onset, maintenance and resolution of the immune response may be fundamental in predicting the evolution of the disease. The identification of genetic variants behind immune system reactivity and function in COVID-19 may help in the elaboration of personalized therapeutic strategies…
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome
2018
Abstract Aim Mucopolysaccharidosis type I is a lysosomal storage disorder that can result in significant disease burden, disability and premature death, if left untreated. The aim of this review was to elaborate on the diagnosis of mucopolysaccharidosis type I and the pros and cons of newborn screening. Methods An international working group was established to discuss ways to improve the early diagnosis of mucopolysaccharidosis type I. It consisted of 13 experts in paediatrics, rare diseases and inherited metabolic diseases from Europe and the Middle East. Results It is becoming increasingly clearer that the delay between symptom onset and clinical diagnosis is considerable for mucopolysacc…
Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School
2018
Abstract Primary ciliary dyskinesia (PCD) is a chronic suppurative airways disease that is usually recessively inherited and has marked clinical phenotypic heterogeneity. Classic symptoms include neonatal respiratory distress, chronic rhinitis since early childhood, chronic otitis media, recurrent airway infections leading to bronchiectasis, chronic sinusitis, laterality defects with and without congenital heart disease including abnormal situs in approximately 50% of the cases, and male infertility. Lung function deteriorates progressively from childhood throughout life. ‘Better Experimental Approaches to Treat Primary Ciliary Dyskinesia’ (BEAT-PCD) is a network of scientists and clinician…
Behavioral and clinical characteristics of people receiving medical care for HIV infection in an outpatient facility in Sicily, Italy
2016
Paola Di Carlo,1 Giuliana Guadagnino,1 Palmira Immordino,1 Giovanni Mazzola,2 Pietro Colletti,2 Ilenia Alongi,1 Lucia Adamoli,1 Francesco Vitale,1 Alessandra Casuccio1 1Department of Sciences for Health Promotion and Mother-Child Care “G D’Alessandro”, University of Palermo, 2Department of Medicinal Clinics and Emerging Diseases, “Paolo Giaccone” Polyclinic University Hospital, Palermo, Italy Aim: The authors examined a cohort of HIV-positive outpatients at the AIDS Center of Palermo University in Italy in order to identify factors related to the frequency of their visits to the outpatient facility for health care services.Methods: Two hundr…