Search results for " History"

Genetics and Pathogenetic Role of Inflammasomes in Philadelphia Negative Chronic Myeloproliferative Neoplasms: A Narrative Review

2021

The last decade has been very important for the quantity of preclinical information obtained regarding chronic myeloproliferative neoplasms (MPNs) and the following will be dedicated to the translational implications of the new biological acquisitions. The overcoming of the mechanistic model of clonal evolution and the entry of chronic inflammation and dysimmunity into the new model are the elements on which to base a part of future therapeutic strategies. The innate immune system plays a major role in this context. Protagonists of the initiation and regulation of many pathological aspects, from cytokine storms to fibrosis, the NLRP3 and AIM2 inflammasomes guide and condition the natural hi…

The quality of life in girls with Rett syndrome

2016

Nowadays, quality of life is receiving an increasing attention in all scientific areas. Rett syndrome (RTT) is a rare neurological development, affecting mainly females. The congenital disease affects the central nervous system, and is one of the most common causes of severe intellectual disability. The aim of our study is to evaluate the effect of RTT on the quality of life of people who are affected. Both parents of 18 subjects, all female, diagnosed with RTT, took part in the research. Quality of life was assessed using the Italian version of the Impact of Childhood Illness Scale. This scale consists of 30 questions that investigate the effect of illness on children, parents and families…

Clinical Course and Genetic Susceptibility of Primary Biliary Cirrhosis: Analysis of a Prospective Cohort

2016

Background: Natural history of primary biliary cirrhosis (PBC) is partially characterized in patients from the Mediterranean area whose genetic background differs from that of Northern Europeans. Objectives: We aimed to describe genetic susceptibility and clinical course of PBC in patients from Southern Italy. Methods: Socio-demographic, clinical, biochemical and histological data at diagnosis as well as disease progression of 81 PBC consecutive patients were collected. All subjects were treated with Ursodeoxycholic acid at a dose of 15 mg/kg. HLA class II DRB1 alleles were compared with those of 237 healthy control subjects. IL28B genotyping for IL28B rs12979860 C/T and rs80899917 G/T was …

Systematic ajmaline challenge in patients with long QT 3 syndrome caused by the most common mutation: a multicentre study

2016

Aims Overlap syndromes of long QT 3 syndrome (LQT3) and the Brugada syndrome (BrS) have been reported. Identification of patients with an overlapping phenotype is crucial before initiation of Class I antiarrhythmic drugs for LQT3. Aim of the present study was to elucidate the yield of ajmaline challenge in unmasking the Brugada phenotype in patients with LQT3 caused by the most common mutation, SCN5A-E1784K. Methods and results Consecutive families in tertiary referral centres diagnosed with LQT3 caused by SCN5A-E1784K were included in the study. Besides routine clinical work-up, ajmaline challenge was performed after informed consent. A total of 23 subjects (11 female, mean age 27 ± 14 yea…

New insights on water buffalo genomic diversity and post-domestication migration routes from medium density SNP chip data

2018

Made available in DSpace on 2018-12-11T16:52:11Z (GMT). No. of bitstreams: 0 Previous issue date: 2018-03-02 The domestic water buffalo is native to the Asian continent but through historical migrations and recent importations, nowadays has a worldwide distribution. The two types of water buffalo, i.e., river and swamp, display distinct morphological and behavioral traits, different karyotypes and also have different purposes and geographical distributions. River buffaloes from Pakistan, Iran, Turkey, Egypt, Romania, Bulgaria, Italy, Mozambique, Brazil and Colombia, and swamp buffaloes from China, Thailand, Philippines, Indonesia and Brazil were genotyped with a species-specific medium-dens…

Giant cell arteritis (Horton's disease) in very elderly patients aged 80 years and older: A study of 25 cases

2015

Aim Analysis of the characteristics of very elderly patients with giant cell arteritis (GCA). Methods Patients aged 80 years and older diagnosed with GCA in our department between 1 January 2002 and 31 July 2008 were retrospectively included. For each patient, we recorded general characteristics, reason(s) for hospitalization, specialty of the physician or department that referred the patient to us, medical history, treatment at admission, GCA clinical features, time to diagnosis of GCA, biological screening and GCA treatment. Results We analyzed 25 clinical records, 18 women and seven men with a mean age of 83.9 years. General weakness, visual loss and inflammatory syndrome were the princi…

Jillian Russyll (AKA Jill) Tate

2018

El diagnóstico de la crisis de la cultura en España: del recorte público a la crisis sistémica

2016

Since its invention in the fifties, cultural policy has been subject of analysis and reflection by Social Sciences. However, Spain, due to Franco period, has a number of distinguishing features as compared to Western European democracies. With the restoration of democracy, Spain acquires the dominant paradigm of a democratic cultural policy based on freedom, pluralism and the right to culture. However, after decades of democratic governments, diagnosis of cultural policy in Spain shows signs of systemic crisis, added to the impact of the global financial crisis at the beginning of the XXI century. In this context, scholars, using the Delphi method along with secondary sources, identify a se…

Le mobilier de l’hypogée 2 du Mont-Aimé au Val-des-Marais (Marne) dans son cadre régional : nouvelles données.

2014

International audience

Kinship, acquired and inherited status, and population structure at the Early Bronze Age Mokrin necropolis in northern Serbia

2020

AbstractTwenty-four ancient genomes with an average sequencing coverage of 0.85±0.25 X were produced from the Mokrin necropolis, an Early Bronze Age (2,100-1,800 BC) Maros culture site in Serbia, to provide unambiguous identification of biological sex, population structure, and genetic kinship between individuals. Of the 24 investigated individuals, 15 were involved in kinship relationships of varying degrees, including 3 parent-offspring relationships. All observed parent-offspring pairs were mother and son. In addition to the absence of biological daughters, we observed a number of young women and girls with no biological relatives in our sample. These observations, together with the high…