40 research outputs found
Clinical and genetic aspects of Blau syndrome: A 25-year follow-up of one family and a literature review
Empreendedorismo e inovação: ações de fomento no Submédio Vale do São Francisco / Entrepreneurship and innovation: development actions in the Sub-middle Valley of São Francisco
O empreendedorismo é uma atividade que está em ascensão em todo o mundo, ganhando cada vez mais amplitude na esfera mercadológica. No entanto, acorre a necessidade de extensão do conhecimento e compreensão sobre o tema entre potenciais empresários e estudantes, para que o uso de ferramentas tecnológicas e programas inovadores assegurem a inserção no processo de empreender. Este documento detalha atividades de extensão tecnológica realizadas pelo Instituto Federal de Educação, Ciência e Tecnologia do Sertão Pernambucano (IF SERTÃO-PE), no intuito de fomentar e desenvolver as expertises para o alavancar da atividade na região. Dentre as atividades desenvolvidas, destacam-se eventos internos e externos, realizados em parceria com instituições locais como o SEBRAE, e totalmente on-line. Os resultados foram surpreendentes e boa parte detalhados em gráficos para melhor análise. Enfatiza-se o programa Crescendo e Empreendendo do SEBRAE, que alcançou um número que se aproximou de 1000 participantes e o V Workshop de Inovação e Empreendedorismo que teve 260 participantes de 19 cidades da região. Confirma-se, desta forma, que todos os eventos foram de especial relevância para o fomento do empreendedorismo entre os jovens
Acute Delta Hepatitis in Italy spanning three decades (1991–2019): Evidence for the effectiveness of the hepatitis B vaccination campaign
Updated incidence data of acute Delta virus hepatitis (HDV) are lacking worldwide. Our aim was to evaluate incidence of and risk factors for acute HDV in Italy after the introduction of the compulsory vaccination against hepatitis B virus (HBV) in 1991. Data were obtained from the National Surveillance System of acute viral hepatitis (SEIEVA). Independent predictors of HDV were assessed by logistic-regression analysis. The incidence of acute HDV per 1-million population declined from 3.2 cases in 1987 to 0.04 in 2019, parallel to that of acute HBV per 100,000 from 10.0 to 0.39 cases during the same period. The median age of cases increased from 27 years in the decade 1991-1999 to 44 years in the decade 2010-2019 (p < .001). Over the same period, the male/female ratio decreased from 3.8 to 2.1, the proportion of coinfections increased from 55% to 75% (p = .003) and that of HBsAg positive acute hepatitis tested for by IgM anti-HDV linearly decreased from 50.1% to 34.1% (p < .001). People born abroad accounted for 24.6% of cases in 2004-2010 and 32.1% in 2011-2019. In the period 2010-2019, risky sexual behaviour (O.R. 4.2; 95%CI: 1.4-12.8) was the sole independent predictor of acute HDV; conversely intravenous drug use was no longer associated (O.R. 1.25; 95%CI: 0.15-10.22) with this. In conclusion, HBV vaccination was an effective measure to control acute HDV. Intravenous drug use is no longer an efficient mode of HDV spread. Testing for IgM-anti HDV is a grey area requiring alert. Acute HDV in foreigners should be monitored in the years to come
Utilità della tecnica denaturing high performance liquid chromatography per la diagnosi di deficit di mevalonato chinasi nelle febbri periodiche di sospetta natura autoinfiammatoria
Mevalonate Kinase Deficiency (MKD) is a rare autosomic recessive autoinflammatory disorder characterized by recurrent fever and musculoskeletal manifestations. MKD is due to mutations in the gene for mevalonate kinase (MK), located on chromosome 12q24, which cause variable degrees of enzyme deficiency. Although genetic investigation became essential for the diagnosis, especially in patient with normal IgD values in serum, the analysis of the sequence of the whole coding region is expensive: determination of mutations by sequencing can be made more efficient using techniques of pre-screening able to identify the mutated exon.
OBJECTIVES:
In this study we have developed a genetic investigation using Denaturing High Performance Liquid Chromatography (DHPLC), a pre-screening technique which is able to identify polymorphisms of the gene mvk in patients with autoinflammatory syndrome suspicion.
METHODS:
Starting from January 2007 we evaluated 10 healthy controls and 19 patients (mean age 33 years, range 13 – 61 years) affected by recurrent fevers and other clinical manifestations usually found in autoinflammatory syndromes and not correlated with infections or autoimmune disease. IgD level was measured in all patients.
Molecular testing was performed in DNA extracted from peripheral blood lymphocytes by standard methods. The 10 coding exons (from 2 to 11) of the mvk gene were analysed by means of denaturing high-performance liquid chromatography (DHPLC) using the Wave® Fragment Analysis system (Transgenomic). Primers for PCR amplifications, amplicon lengths and PCR conditions were designed in our laboratory. Melting temperature (Tm) were calculated with Navigator Software 1.7.0 (Transgenomic). Sequences of the same amplified fragments were determined by means of an automatic sequencer ABI PRISM 3130 Genetic Analyzer (APPLIED BIOSYSTEMS).
RESULTS:
IgD level was normal in 14 patients.
Healthy controls did not show any alteration of the DHPLC-profiles and of the DNA sequences. Twelve patients had at least one altered DHPLC-profile and these data have been confirmed by sequencing. In particular we detected the mutations S52N (patient 2-13-15), S135S (pt 13-16), D170D, c.632-18A>G(pt 4-5-6-10-12-17-19), c.78+61A>G (pt 6-11-19), c.885+24G>A (pt 6-19) already described in literature and in the database INFEVERS (http://fmf.igh.cnrs.fr/infevers).
The screening with DHPLC has allowed us to get the results in shorter time (10 hours/patient) and with lower cost (40 euro / patient) in comparison to direct sequencing (time: 25 hours / patient and cost: 150 euro / patient).
CONCLUSION:
High serum levels of IgD do not represent an essential marker for diagnosis of MKD, as already reported in literature. DHPLC is a rapid low cost technique in order to screen mutations in patients with MKD suspicion. Nevertheless, being an indirect tecnique, DHPLC is able to show a polymorphism in the DNA sequence but it is not able to identify the position, and this still remains a limiting factor for the use of the DHPLC as an exclusive technique for genetic analysis.
Twelve patients of our cohort carried at the same time D170D and c.632-18A>G: such event suggests that these SNPs could be in linkage disequilibrium and that such mutations could induce a diminution in the activity of the MK predisposing therefore to the MKD.SCOPO DEL LAVORO
La Mevalonate Kinase Deficency (MKD), già nota come sindrome da Iper IgD (HIDS), è una rara malattia autoinfiammatoria di tipo autosomico recessivo caratterizzata da febbre ricorrente e disturbi muscoloscheletrici. La MKD è dovuta a mutazioni del gene mvk, mappato sul cromosoma 12q24, il quale codifica per l’enzima mevalonato chinasi (MK); polimorfismi nel gene mvk sono la causa di un’alterata attività enzimatica di MK.
L’individuazione della mutazione genica della mevalonato chinasi ha reso l’indagine genetica indispensabile per la diagnosi, soprattutto in pazienti con valori sierici di IgD normali, tuttavia il sequenziamento dell’intera regione codificante è costoso e la determinazione di mutazioni può essere resa più efficiente utilizzando tecniche di pre-screening in grado di identificare l’esone mutato. In questo studio è stata effettuata un’indagine genetica utilizzando l’analisi in DHPLC come tecnica di pre-screening per identificare le alterazioni nella regione codificante del gene mvk in pazienti con sospetta sindrome autoinfiammatoria.
MATERIALI E METODI:
A partire da gennaio 2007 sono stati presi in esame 19 pazienti (età media 33 anni, range 13 – 61 anni) seguiti presso la Cattedra e UOC di Reumatologia dell’Università di Padova per febbri ricorrenti non imputabili ad infezioni o a malattie autoimmuni e compatibili con sospetta MKD e 10 controlli sani. In ogni paziente è stato effettuato il dosaggio delle IgD nel siero. L’analisi del DNA, estratto da linfociti del sangue periferico, è stata effettuata mediante un protocollo di amplificazione per frammenti di 210-250 bp messo a punto da noi stessi, utilizzando primers specifici per le sequenze dei 10 esoni codificanti del gene mvk. I prodotti di amplificazione sono stati analizzati mediante DHPLC utilizzando il sistema Wave® Fragment Analysis (Transgenomic, Omaha, NE, USA). Le temperature di melting (Tm) sono state calcolate con Navigator Software 1.7.0 (Transgenomic). Le sequenze degli stessi frammenti amplificati sono state determinate mediante l’uso di un sequenziatore automatico ABI PRISM 3130 Genetic Analyzer (APPLIED BIOSYSTEMS, USA).
RISULTATI:
I valori sierici di IgD erano normali (<100 mg/L) in 14/19 pazienti. Nessun campione di controllo presentava alterazioni dei profili DHPLC e delle sequenze.
Dodici dei 19 pazienti esaminati presentavano almeno un profilo di DHPLC alterato e i dati sono stati confermati con il sequenziamento. Sono state evidenziate le mutazioni S52N (paziente 2-13-15), D170D e c.632-18A>G (paziente 4-5-6-10-12-17-19), S135S (pz 13-16) c.78+61A>G (pz 6-11-19), c.885+24G>A (pz 6-19) già descritte in letteratura e nel database INFEVERS (http://fmf.igh.cnrs.fr/infevers).
Lo screening con DHPLC ha permesso di ottenere i risultati in minor tempo (10 ore / paziente) e con costi inferiori (40 euro / paziente) rispetto alla tecnica di sequenziamento diretto (tempo: 25 ore / paziente , costi: 150 euro / paziente).
CONCLUSIONI:
Un elevato livello sierico di IgD non rappresenta più un marker per fare diagnosi di MKD, come già riportato in letteratura.
La DHPLC è una tecnica capace di effettuare uno screening rapido e a basso costo nell’analisi di mutazioni in pazienti con sospetta sindrome autoinfiammatoria legata al gene mvk.
Tuttavia, essendo una tecnica di analisi indiretta, è necessario considerare che la DHPLC aumenta l’efficienza dell’analisi ma non la sua sensibilità in quanto è in grado di evidenziare un polimorfismo di sequenza ma non la sua posizione.
Sette pazienti della nostra coorte sono risultati portatori delle varianti alleliche D170D e c.632-18A>G; tale evento suggerisce che questi SNP potrebbero essere in linkage disequilibrium e che tali mutazioni potrebbero indurre una diminuzione nell’attività della MK predisponendo quindi alla MKD
Blau syndrome, clinical and genetic aspects
Blau syndrome (BS) is a rare autosomal dominant, autoinflammatory syndrome characterized by the clinical triad of granulomatous recurrent uveitis, dermatitis and symmetric arthritis. The gene responsible for BS has been identified in the caspase recruitment domain gene CARD15/NOD2. In the majority of patients, the disease is characterized by early onset, usually before 3-4years of age. The manifestations at disease onset are usually represented by articular and cutaneous involvement signs, generally followed later by ocular manifestations which are often the most relevant morbidity of BS. In some cases the presence of fever is also observed; atypical cases of BS have been reported with cardiovascular, neurological, renal, intestinal and other organ involvement. The rarity and the variations in the severity and evolution of its expressions do not permit sufficient data about optimal treatment for patients with BS. The first step of therapy is represented by the use of corticosteroids and successively, in case of unsatisfactory response, by additional treatment with immunosuppressive agents. The results with biologic anti-cytokine agents, such as anti-TNFα and anti-IL1β, are different, particularly with regard to ocular morbidity. Clinical and genetic aspects of the familial and the sporadic form of BS will be discussed and focused on. A description of a case study of an Italian family is also included
Inibizione dell'espressione genica di iNOS ed effetto su IL-6 da parte della glucosamina solfato in condrociti umani.
Completeness of exercise reporting among randomized controlled trials on pelvic floor muscle training for women with pelvic organ prolapse: A systematic review
This systematic review aimed to assess the completeness of exercise reporting in randomized controlled trials (RCTs) on pelvic floor muscle training (PFMT) for women with pelvic organ prolapse (POP)
Redes sociais , atores e qualidade de vida: o caso do arranjo produtivo cafeeiro, Castelo/ES
A Digital Object Identifier (DOI) não foi disponibilizada pela revista.A análise da qualidade de vida envolve investigar o nÃvel de formulação do
próprio conceito de forma vivencial e experimental, com intuito de identificar a visão
do sujeito e de sua famÃlia, de acordo com sua realidade, pressupondo que todos seus
elementos são aglutinadores da vida social local e são fundamentais para a reprodução
do tecido social. Assim, o objetivo deste estudo foi analisar as dimensões concretas e
subjetivas da qualidade de vida dos cafeicultores, examinando como as redes sociais
estabelecidas pelos e entre os agricultores familiares e o próprio arranjo produtivo
cafeeiro, no qual eles estão inseridos, interferem na qualidade de vida dessas unidades
familiares. Para tanto, utilizou-se o modelo teórico de Metzen et al. (1980), cujas
variáveis foram expressas em forma de questionário aplicado a 128 cafeicultores do
municÃpio de Castelo, localizado na região do sul do Estado do EspÃrito Santo. As
análises objetiva e subjetiva da qualidade de vida permitiram compreender os fatores
relacionados às necessidades concretas da população pesquisada, bem como suas
dimensões subjetivas, que geralmente estão associadas tanto às suas redes de
relacionamento quanto à s aspirações do indivÃduo/famÃlia, à s suas particularidades, à s suas vivências, aos seus valores, aos seus costumes e à s suas condições do espaço
relacional.The analysis of quality of life involves investigating the level of formulation of
the concept of experiential and experimental way, with the aim of identifying the
vision of the subject and his family, according to their reality, assuming that all its
elements are binders of social life Local and central to the reproduction of the social
fabric. The objective of this study was to analyze the dimensions of concrete and
subjective quality of life of farmers, examining how the social networks established by
and between the farmers and the coffee itself productive arrangement, in which they are
inserted, affect the quality of lives of these family units. To that end, we made use of the
Theoretical Model Metzen et al. (1980), variables were expressed in the form of a
questionnaire, applied along the 128 farmers in the municipality of Castelo, located in
the southern region of Espirito Santo. The objective analysis and subjective quality of
life could understand the factors related to the specific needs of the population studied,
as well as its subjective dimensions, which usually are associated with both their social
networks and
aspirations of
individuals / families,
their
particularities,
experiences, values, customs and conditions of relational space