1,172 research outputs found
Mitochondrial mutation in adult patient with Hypertrophic Cardiomyopathy and renal failure
Background: Mitochondrial diseases (MDs) (1:5000-10000) represents a wide group of human disorders associated with mitochondrial DNA (mtDNA) variations causing defect of oxidative phosphorylation system, whereas nuclear genome mutations are somewhat rare. The extremely heterogeneous clinical phenotype, extending from oligosymptomatic condition to complex syndromes involving neurological, ophtalmological, gastroenterological and endocrine features, depends to the involved tissue well as to the specific mtDNA mutations and their heteroplasmic level. Diabetes and deafness are common features of mitochondrial diseases, while renal alterations are rarely reported, especially in adults, probably because of lack of association to mitochondrial conventional phenotypes.
Case Presentation: We investigated a 62 years old male affected by hypertrophic cardiomyopathy (HCM) and renal failure that caused already a bilateral transplantation. Pathological anamnesis revealed also diabetes, deafness and Crohn disease. Family history of cardiomyopathy showed a strong mitochondrial involvement. The proband's mother, three brothers (one of which died of renal failure at 26 years), the sister and her child were affected.
Materials and Methods: Genomic DNA from peripheral blood and buccal cells was extracted with the Kit-Nucleon-BACC2 (Illustra DNA-Extraction Kit-BACC2-GE Healthcare, UK) and the whole mitochondrial genome was amplified by two pair of primers designed in our laboratory to generate two overlapping fragments. The PCR products were then sequenced and compared to mitochondrial reference sequence (rCRS NC_012920).
Results and Discussion: In both biological samples the mtDNA analysis showed the heteroplasmic A3243G mutation in the tRNALeu (UUR), frequently associated with MDs.
A cardiological involvement leading to hypertrophic remodelling, caused to mitochondria intermyofibrillar proliferation, occurs up to 40% of patients with mtDNA disease. Molecular backgrounds of mitochondrial cardiomyopathy of adult age are still quite poorly known and the A3243G mutation in tRNA Leu(UUR) of mtDNA has been reported in 40-60% of patients with HCM.
The interesting finding presented here support the knowledge that mitochondrial gene altertation represents a possible etiology in cardiological patients with unexplained renal failure. This is particularly true, as in this case, when other associated symtoms linked with dysfunctional oxidative phosphorylation are present.
The case presented in this report further suggests that a differential diagnosis in presence of HCM should be solved by a multidisciplinary approach together with mutation analysis of mitochondrial DNA
ENAMA “Certification” of the inspection workshop activity: the necessary requirements
In European Directive 128/2009/EC it is stated that “each Member State shall establish certificate systems designed to allow the verification of sprayers inspections”, but no further indications are provided on how to make such certifications. In Italy the ENAMA (National Board for Agricultural Mechanization) working group – established to co-ordinate the sprayers inspection activities at national level – has prepared a specific document containing the guidelines on how to get, on a voluntary basis, an ENAMA certification which attests the conformity of test equipment and of test procedures adopted in the inspection workshops. In this document directions are reported on how to assess the conformity of the inspection workshops to a set of listed requirements, referred either to other ENAMA documents, or to the National Action Plan, or to ISO/IEC 17020.The ENAMA certification of conformity therefore represents an added value for the sprayers inspection and calibrations Workshops as it ensures, through periodical inspections, that workshops apply the correct administrative (e.g. management of data and record of test reports) and technical procedures in their inspection activity and that they use appropriate test equipment and instruments. In this paper the requirements needed to get and to maintain over time the ENAMA certification of conformity are described
487 Left atrial strain/strain rate analysis in patients with dilated cardiomyopathy. correlation with clinical, electrocardiographic and echocardiographic findings
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A proposal for an EU (SPISE) database of the licensed sprayers inspectors and inspection centres
In order to guarantee at European level the easy identification of sprayers inspected and to allow mutual recognition of inspections as recommended by the European Directive on Sustainable Use of Pesticides (128/2009/EC) it would be necessary to create a SPISE database enabling to collect the list of the technicians authorized to make inspections of sprayers in use and of the licensed inspection centers. This database should be managed at SPISE level and should be linked to the national databases for getting regular updates.Actually in Italy there is a public national online database (www.centriprovairroratrici.unito.it) that was realized by the ENAMA working group. Only the sprayers inspected by the test stations listed in this database are recognized all over the country.This national database contains also the results of all the inspections made in the different Italian Regions and therefore provides a support for monitoring the inspection activity at national level. Independently of the software used at local level for managing data of sprayer inspections, some key information have to be necessarily provided in order to identify the sprayer inspected.They are the coordinates of the test station, the name of the technician who inspected the sprayer, the name of the owner of the sprayer, the data of the machine inspected, the date of the inspection and its response
A Case of Osteonecrosis of the Jaw in a Patient with Crohn's Disease Treated with Infliximab
Background: Medication-related osteonecrosis of the jaw (MRONJ) is a severe adverse drug reaction, occurring in patients undergoing treatments with antiresorptive or antiangiogenic agents, such as bisphosphonates, denosumab, or bevacizumab, for different oncologic and non-oncologic diseases. The aim of this study was to report a case of MRONJ in a patient taking infliximab, an anti-TNF-alpha antibody used to treat Crohn's disease, rheumatoid arthritis, ulcerative colitis, ankylosing spondylitis, psoriatic arthritis, and plaque psoriasis.
Case Report: A 49-year-old female patient affected by Crohn's disease, who had been undergoing 250 mg intravenous infliximab every six weeks for 12 years, with no history of antiresorptive or antiangiogenic agent administration, came to our attention for post-surgical MRONJ, associated with a wide cutaneous necrotic area of her anterior mandible. Following antibiotic cycles, the patient underwent surgical treatment with wide bone resection and debridement of necrotic tissues; after prolonged follow-up (16 months), the patient completely healed without signs of recurrence.
Conclusions: Prevention of MRONJ by dental check-up before and during treatments with antiresorptive treatments (bisphosphonates or denosumab) is a well-established procedure. Although further studies are required to confirm the role of infliximab in MRONJ, based on the results of this study, we propose that patients who are going to be treated with infliximab should also undergo dental check-up before starting therapy, to possibly avoid MRONJ onset
The necessity of a harmonized procedure for sprayers inspectors training: the Italian activity
European Directive on Sustainable Use of Pesticides requires that the people making inspections of sprayers in use have an official license, recognized at national level, released by the competent Authority. In Italy, Authorities responsible of training and upgrading of sprayers inspectors are Regional and Provincial administrations. They make this job in collaboration with research institutes that provide qualified teachers.With the aim to homogenize in the whole country the activity of training and licensing of sprayers inspectors the rules for training courses and the criteria for releasing licenses have been defined by ENAMA. Training courses shall have a duration of at least 40 hours subdivided between theory (60% of total time) and practical (40% of total time).Topics treated during courses are: criteria to apply pesticides, main sprayer types used in agriculture and relative components, test methods and equipment used to carry out the inspections of sprayers in use and to adjust them. The exam to get the inspector license shall consist in: a) filling of a questionnaire with multiple answers (at least 80% of answers have to be correct); the questions are selected among a database approved by ENAMA Working Group; b) oral test; c) practical exam consisting in the complete inspection of one sprayer.In order to guarantee the same quality level of sprayers inspections in the different European countries and to guarantee the mutual recognition of inspections made it is considered necessary to reach in short terms an agreement to harmonize the activity of training, licensing and upgrading of sprayers inspectors across Europe
Conclusions
The state of the art of structural health monitoring damage detection systems reviewed in this book shows that it is a promising area of technologies. SHM damage detection systems in civil aviation are still mostly limited to lab applications because there are still issues, which need to be solved for such systems to be integrated in an aircraft structure. Therefore, further research is needed to solve the current drawbacks/limitations of the existing SHM approaches such that this technology can be used in aircrafts. Despite the current limitations, SHM application for damage detection in aircrafts would make the flying safer and the structure lifetime longer and reduce the maintenance time and costs considering that the maintenance could be performed not at the predetermined intervals, but upon the need based on the condition that would be determined by the SHM systems used. We conclude some of the important differences and the common challenges to the methods reviewed in this book and provide an outlook on the next steps to a successful implementation
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