128 research outputs found

    Management of motor rehabilitation in individuals with muscular dystrophies. : 1st Consensus Conference report from UILDM – Italian Muscular Dystrophy Association (Rome, January 25-26, 2019)

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    Muscular dystrophy (MD) is a group of neuromuscular diseases characterized by progressive muscle weakness due to various mutations in several genes involved in muscle structure and function. The age at onset, evolution and severity of the different forms of MD can vary and there is often impairment of motor function and activities of daily living. Although there have been important scientific advances with regard to pharmacological therapies for many forms of MD, rehabilitation management remains central to ensuring the patient’s psychophysical well-being. Here we report the results of an Italian consensus conference promoted by UILDM (Unione Italiana Lotta alla Distrofia Muscolare, the Italian Muscular Dystrophy Association) in order to establish general indications and agreed protocols for motor rehabilitation of the different forms of MD

    CARATTERIZZAZIONE DEL MICROBIOTA ORALE E DI BIOPSIE DI TESSUTO VALVOLARE PATOLOGICO IN UN CAMPIONE DI PAZIENTI PARODONTALI E NON PARODONTALI

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    Aim. To assess the prevalence of periodontal disease among patients presenting severe heart valve impairment and requiring coronary by-pass surgery. To investigate the presence of periodontal pathogens in cardiovascular specimens and to analyse the relationship between oral and cardiovascular patterns of the microorganisms detected. Materials and Methods. An observational study was conducted at the Cardiovascular Surgery Division, University Hospital of Verona, Verona, Italy. The Ethical approval was previously obtained in order to enroll subjects referring to the Hospital for heart valves replacement and coronary bypass surgery. Patients were scheduled to be visited by a dentist, together with a dental hygienist, the day before the surgery: periodontal conditions were accurately registered through clinical and radiographic examinations and dental plaque or salivary samples were collected. Cardiovascular specimens were collected during surgical heart valve replacement for the scheduled microbiological 16 rRNA gene sequencing. Plaque samples and cardiovascular specimens were analyzed according to periodontal status. A qualitative comparison between oral and cardiovascular profiles of the microorganisms detected was also performed. Results. 26 patients (15 men and 11 women) attended the study. The overall number of patients examined for the conditions of soft tissues were 19, as 7 patients were edentulous and reported to had lost dentition for history of periodontal disease. 46.15% and 11.54% individuals respectively presented moderate periodontitis and severe periodontitis. A statistically significant difference (p=0.04) was found for PPD between healthy patients, patients with moderate periodontitis and patients with severe periodontitis. Regarding plaque samples and cardiovascular specimens, no statistically significant differences were found in both cases between healthy patients, patients with moderate periodontitis, patients with severe periodontitis and edentulous patients. Nine valves were found to be positive at the presence of oral and periodontophatic bacterial DNA. The principal species detected were Streptococcus periodonticum, Streptococcus mutans, Fusobacterium nucleatum-periodonticum, Aggregatibacter segnis and Porphyromonas pasteri. Conclusions. The significant number of oral and periodontopathic bacterial DNA species found in valve tissue samples, in patients with periodontitis, suggests that the presence of these microrganisms in valve tissue seems to be not coincidental, and that they may have a role in the development of vascular diseases

    Bone marrow-specific loss of ABI1 induces myeloproliferative neoplasm with features resembling, human myelofibrosis

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    Although the pathogenesis of primary myelofibrosis (PMF) and other myeloproliferative neoplasms (MPNs) is linked to constitutive activation of the JAK-STAT pathway, JAK inhibitors have neither curative nor MPN-stem cell-eradicating potential, indicating that other targetable mechanisms are contributing to the pathophysiology of MPNs. We previously demonstrated that Abelson interactor 1 (Abi-1), a negative regulator of Abelson kinase 1, functions as a tumor suppressor. Here we present data showing that bone marrow-specific deletion of Abi1 in a novel mouse model leads to development of an MPNlike phenotype resembling human PMF. Abi1 loss resulted in a significant increase in the activity of the Src family kinases (SFKs), STAT3, and NF-ÎșB signaling. We also observed impairment of hematopoietic stem cell self-renewal and fitness, as evidenced in noncompetitive and competitive bone marrow transplant experiments. CD34 + hematopoietic progenitors and granulocytes from patients with PMF showed decreased levels of ABI1 transcript as well as increased activity of SFKs, STAT3, and NF-ÎșB. In aggregate, our data link the loss of Abi-1 function to hyperactive SFKs/STAT3/NF-ÎșB signaling and suggest that this signaling axis may represent a regulatory module involved in the molecular pathophysiology of PMF

    Pre-treatment clinical and gene expression patterns predict developmental change in early intervention in autism.

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    Funder: U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH)Early detection and intervention are believed to be key to facilitating better outcomes in children with autism, yet the impact of age at treatment start on the outcome is poorly understood. While clinical traits such as language ability have been shown to predict treatment outcome, whether or not and how information at the genomic level can predict treatment outcome is unknown. Leveraging a cohort of toddlers with autism who all received the same standardized intervention at a very young age and provided a blood sample, here we find that very early treatment engagement (i.e., <24 months) leads to greater gains while controlling for time in treatment. Pre-treatment clinical behavioral measures predict 21% of the variance in the rate of skill growth during early intervention. Pre-treatment blood leukocyte gene expression patterns also predict the rate of skill growth, accounting for 13% of the variance in treatment slopes. Results indicated that 295 genes can be prioritized as driving this effect. These treatment-relevant genes highly interact at the protein level, are enriched for differentially histone acetylated genes in autism postmortem cortical tissue, and are normatively highly expressed in a variety of subcortical and cortical areas important for social communication and language development. This work suggests that pre-treatment biological and clinical behavioral characteristics are important for predicting developmental change in the context of early intervention and that individualized pre-treatment biology related to histone acetylation may be key

    Nueva variedad de trigo pan: MS INTA 623 CL

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    Las variedades de trigo pan que se siembran en Argentina son generadas por programas de mejoramiento genético que se basan en continuos procesos de: generación de variabilidad genética (hibridaciones o cruzamientos, introducciones de materiales foråneos y adaptación, etc), selección agronómica y estabilización progresiva de materiales, y evaluación final, en ensayos comparativos de rendimiento (ECR) multilocalidades de toda la región triguera argentina, lo cual implica gran cantidad de tiempo y recursos. Es un proceso largo y contínuo, que dependiendo de los métodos que se practiquen en cada programa, este proceso puede llevar hasta 15 años con técnicas convencionales. En la actualidad hay técnicas de avances de generaciones en invernåculos y en contraestación que pueden adelantar este proceso, pero de un mínimo de 6 ó 7 años. El Programa Nacional de Mejoramiento de Trigo del INTA tiene una estructura de trabajo en red, constituida por las Estaciones Experimentales Agropecuarias (EEAs) de Marcos Juårez (sede), Paranå, Pergamino, Balcarce, Barrow y Bordenave, distribuidas en las distintas subregiones trigueras, coordinando acciones con el apoyo de los laboratorios de Biología Molecular, Calidad y Patología. También existe vinculación con otras disciplinas relacionadas con el mejoramiento tales como genómica funcional, recursos genéticos, bioinformåtica, ecofisiología y estadística. La finalidad del programa es desarrollar cultivares de trigo pan de alto potencial de rendimiento de granos con adaptabilidad a las diferentes condiciones agroecológicas y sistemas de producción de la región triguera de nuestro país con calidad para distintos usos industriales y resistencia y/o tolerancia a factores bióticos y abióticos adversos, en un marco de sustentabilidad de los recursos y calidad del producto. Como parte de ese objetivo recientemente se desarrolló una nueva variedad de trigo pan (Triticum aestivum L.), tipo comercial duro, denominado MS INTA 623 CL y de pedigrí: SURSEM NOGAL/BUCK 55 CL2. Los trabajos de investigación en mejoramiento genético de trigo se realizan a través de un convenio de vinculación tecnológica (CVT) con la empresa Louis Dreyfus Company Argentina S.A. (Macro Seed), que es la encargada de la multiplicación y comercialización de la semilla de las variedades inscriptas. En relación a esto es la denominación de las nuevas variedades, las cuales llevan las siglas de ambas empresas, MS (Macro Seed) e INTA, con un código numérico relacionado con el ciclo de la variedad y año de liberación. El cruzamiento de este nuevo material se llevó a cabo en el año 2010 y a partir de los siguientes años se efectuaron selecciones individuales y masales desde la F2 a la F6 en el INTA EEA Marcos Juårez. En F2 a F4 las selecciones fueron sin aplicación de productos herbicidas. En F5 y F6 se aplicaron herbicidas de la familia de las imidazolinonas (IMI) para seleccionar la resistencia conferida de los genes que aporta el padre donor Buck 55CL2. En el año 2017 se inició su evaluación en ECR locales y su multiplicación como línea estabilizada, para luego ser evaluada en ensayos multilocalidades en distintas subregiones trigueras abarcando diversos ambientes productivos. Por su muy buen comportamiento agronómico, productivo, sanitario y de muy buena calidad comercial e industrial en fechas de siembra intermedias fue recientemente aprobada su inscripción en el Registro Nacional de Cultivares (RNC) y Registro Nacional de la Propiedad de Cultivares (RCPC) del Instituto Nacional de Semillas (INASE) perteneciente a la Secretaría de Agricultura, Ganadería y Pesca de la Nación, y liberada como nueva variedad de trigo pan tipo comercial duro habilitada para su futura comercialización. MS INTA 623 CL es una variedad de ciclo intermedio, con muy buen rendimiento de grano y estabilidad productiva en diferentes ambientes de producción. Presenta también muy buen comportamiento sanitario frente a enfermedades foliares (roya de la hoja y roya amarilla) y roya del tallo. Posee muy buena calidad comercial e industrial (panadera) siendo de Grupo de Calidad 2. Es un material primaveral con nulo requerimiento en horas de frío para florecer e insensible al fotoperíodo. Por estas características presenta cierta plasticidad de siembra dentro de la franja de siembra para los ciclos intermedios. En la zona central del país la fecha de siembra óptima recomendada es desde mediados a fines de junio.EEA Marcos JuårezFil: Donaire, Guillermo Manuel. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Marcos Juårez; ArgentinaFil: Bainotti, Carlos Tomås. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Marcos Juårez; ArgentinaFil: Gómez, Dionisio Tomås. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Marcos Juårez; ArgentinaFil: Conde, María Belén. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Marcos Juårez; ArgentinaFil: Alberione, Enrique Javier. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Marcos Juårez; ArgentinaFil: Salines, Nicolås. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Marcos Juårez; ArgentinaFil: Mir, Leticia Raquel. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Marcos Juårez; ArgentinaFil: Formica, María Beatriz. Instituto Nacional de Tecnología Agropecuaria (INTA). Centro Regional Córdoba. Estación Experimental Agropecuaria Marcos Juårez, Argentina.Fil: Vanzetti, Leonardo Sebastiån. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Marcos Juårez; ArgentinaFil: Lombardo, Lucio. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Marcos Juårez; ArgentinaFil: Ghione, Celina Elena. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Marcos Juårez; ArgentinaFil: Demichelis, Melina. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Marcos Juårez; ArgentinaFil: Chialvo, Eugenia. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Marcos Juårez; Argentin

    Diabetic ketoacidosis at the onset of disease during a national awareness campaign: a 2-year observational study in children aged 0-18 years

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    After a previous survey on the incidence of diabetic ketoacidosis (DKA) at onset of type 1 diabetes in children in 2013-2014 in Italy, we aimed to verify a possible decline in the incidence of DKA at onset during a national prevention campaign

    Infected pancreatic necrosis: outcomes and clinical predictors of mortality. A post hoc analysis of the MANCTRA-1 international study

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    : The identification of high-risk patients in the early stages of infected pancreatic necrosis (IPN) is critical, because it could help the clinicians to adopt more effective management strategies. We conducted a post hoc analysis of the MANCTRA-1 international study to assess the association between clinical risk factors and mortality among adult patients with IPN. Univariable and multivariable logistic regression models were used to identify prognostic factors of mortality. We identified 247 consecutive patients with IPN hospitalised between January 2019 and December 2020. History of uncontrolled arterial hypertension (p = 0.032; 95% CI 1.135-15.882; aOR 4.245), qSOFA (p = 0.005; 95% CI 1.359-5.879; aOR 2.828), renal failure (p = 0.022; 95% CI 1.138-5.442; aOR 2.489), and haemodynamic failure (p = 0.018; 95% CI 1.184-5.978; aOR 2.661), were identified as independent predictors of mortality in IPN patients. Cholangitis (p = 0.003; 95% CI 1.598-9.930; aOR 3.983), abdominal compartment syndrome (p = 0.032; 95% CI 1.090-6.967; aOR 2.735), and gastrointestinal/intra-abdominal bleeding (p = 0.009; 95% CI 1.286-5.712; aOR 2.710) were independently associated with the risk of mortality. Upfront open surgical necrosectomy was strongly associated with the risk of mortality (p &lt; 0.001; 95% CI 1.912-7.442; aOR 3.772), whereas endoscopic drainage of pancreatic necrosis (p = 0.018; 95% CI 0.138-0.834; aOR 0.339) and enteral nutrition (p = 0.003; 95% CI 0.143-0.716; aOR 0.320) were found as protective factors. Organ failure, acute cholangitis, and upfront open surgical necrosectomy were the most significant predictors of mortality. Our study confirmed that, even in a subgroup of particularly ill patients such as those with IPN, upfront open surgery should be avoided as much as possible. Study protocol registered in ClinicalTrials.Gov (I.D. Number NCT04747990)

    Understanding Factors Associated With Psychomotor Subtypes of Delirium in Older Inpatients With Dementia

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