Guida alle macrofite acquatiche del Friuli Venezia Giulia I - Piante vascolari

La Direttiva Quadro sulle Acque (2000/60/CE), recepita in Italia dal DL. 152/2006, ha introdotto lo studio delle macrofite acquatiche nella valutazione dello stato ecologico delle acque interne, basato sui criteri tecnici del DM 260/2011. Per i corsi d'acqua è previsto l'uso dell'Indice Biologique Macrophytique en Rivière IBMR (AFNOR, 2003), per i laghi degli indici MTIspecies e MacroIMMI (CNR-ISE, 2009). La certificazione di qualità delle analisi biologiche richiede strumenti conoscitivi adeguati: la creazione di chiavi informatizzate è una tappa fondamentale. Questa guida è stata sviluppata dal Dipartimento di Scienze della Vita dell'Università di Trieste e da ARPA Friuli Venezia Giulia come supporto all'identificazione della flora acquatica regionale. Risulta dalla condivisione delle conoscenze dell'ateneo giuliano con l'esperienza dei tecnici ARPA FVG nell'ambito delle attività di biomonitoraggio per il Piano Regionale di Tutela delle Acque. Le macrofite acquatiche comprendono vegetali molto diversi: alghe macroscopicamente visibili, muschi, epatiche e piante vascolari, a cui è dedicata questa guida. L'elenco floristico comprende taxa tipici di ambienti lotici e lentici, creato in fasi successive. Una prima lista deriva dal confronto tra la quella utilizzata per il calcolo dell'IBMR e la lista delle macrofite acquatiche dei corsi d'acqua italiani pubblicata da ENEA (RT/2009/23/ENEA). La successiva comparazione tra i dati dell'Atlante Corologico del Friuli Venezia Giulia (Poldini 2002) ed una lista risultante da rilievi condotti nel 2009-2010 da ARPA FVG, hanno portato all'elenco di 244 taxa inclusi in questa guida. La suddivisione in Famiglie segue Angiosperm Phylogeny Group III (2009)

Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years

BACKGROUND: Hunter Syndrome is an X-linked lysosomal storage disorder due to the deficit of iduronate 2-sulfatase, an enzyme catalysing the degradation of the glycosaminoglycans (GAG) dermatan- and heparan-sulfate. Treatment of the disease is mainly performed by Enzyme Replacement Therapy (ERT) with idursulfase, in use since 2006. Clinical efficacy of ERT has been monitored mainly by the Hunter Outcome Survey (HOS) while very few independent studies have been so far conducted. The present study is a 3.5-years independent follow-up of 27 Hunter patients, starting ERT between 1.6 and 27 years of age, with the primary aim to evaluate efficacy of the therapy started at an early age (<12 years). METHODS: In this study, we evaluated: urinary GAG content, hepato/splenomegaly, heart valvulopathies, otorinolaryngological symptoms, joint range of motion, growth, distance covered in the 6-minute walk test, neurological involvement. For data analysis, the 27 patients were divided into three groups according to the age at start of ERT: ≤5 years, >5 and ≤ 12 years and > 12 years. Patients were analysed both as 3 separate groups and also as one group; in addition, the 20 patients who started ERT up to 12 years of age were analysed as one group. Finally, patients presenting a “severe” phenotype were compared with “attenuated” ones. RESULTS: Data analysis revealed a statistically significant reduction of the urinary GAG in patients ≤5 years and ≤ 12 years and of the hepatomegaly in the group aged >5 and ≤ 12 years. Although other clinical signs improved in some of the patients monitored, statistical analysis of their variation did not reveal any significant changes following enzyme administration. The evaluation of ERT efficacy in relation to the severity of the disease evidenced slightly higher improvements as for hepatomegaly, splenomegaly, otological disorders and adenotonsillar hypertrophy in severe vs attenuated patients. CONCLUSIONS: Although the present protocol of idursulfase administration may result efficacious in delaying the MPS II somatic disease progression at some extent, in this study we observed that several signs and symptoms did not improve during the therapy. Therefore, a strict monitoring of the efficacy obtained in the patients under ERT is becoming mandatory for clinical, ethical and economic reasons. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13023-014-0129-1) contains supplementary material, which is available to authorized users

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.

IntroductionMucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan sulphate and chondroitin-6-sulphate. The multiple clinical manifestations of MPS IVA present numerous challenges for management and necessitate the need for individualised treatment. Although treatment guidelines are available, the methodology used to develop this guidance has come under increased scrutiny. This programme was conducted to provide evidence-based, expert-agreed recommendations to optimise management of MPS IVA.MethodsTwenty six international healthcare professionals across multiple disciplines, with expertise in managing MPS IVA, and three patient advocates formed the Steering Committee (SC) and contributed to the development of this guidance. Representatives from six Patient Advocacy Groups (PAGs) were interviewed to gain insights on patient perspectives. A modified-Delphi methodology was used to demonstrate consensus among a wider group of healthcare professionals with experience managing patients with MPS IVA and the manuscript was evaluated against the validated Appraisal of Guidelines for Research and Evaluation (AGREE II) instrument by three independent reviewers.ResultsA total of 87 guidance statements were developed covering five domains: (1) general management principles; (2) recommended routine monitoring and assessments; (3) disease-modifying interventions (enzyme replacement therapy [ERT] and haematopoietic stem cell transplantation [HSCT]); (4) interventions to support respiratory and sleep disorders; (5) anaesthetics and surgical interventions (including spinal, limb, ophthalmic, cardio-thoracic and ear-nose-throat [ENT] surgeries). Consensus was reached on all statements after two rounds of voting. The overall guideline AGREE II assessment score obtained for the development of the guidance was 5.3/7 (where 1 represents the lowest quality and 7 represents the highest quality of guidance).ConclusionThis manuscript provides evidence- and consensus-based recommendations for the management of patients with MPS IVA and is for use by healthcare professionals that manage the holistic care of patients with the intention to improve clinical- and patient-reported outcomes and enhance patient quality of life. It is recognised that the guidance provided represents a point in time and further research is required to address current knowledge and evidence gaps

CK2 is a key regulator of SLC4A2-mediated Cl-/HCO3 (-) exchange in human airway epithelia

Transepithelial bicarbonate secretion by human airway submucosal glands and surface epithelial cells is crucial to maintain the pH-sensitive innate defence mechanisms of the lung. cAMP agonists stimulate HCO3 (-) secretion via coordinated increases in basolateral HCO3 (-) influx and accumulation, as well as CFTR-dependent HCO3 (-) efflux at the luminal membrane of airway epithelial cells. Here, we investigated the regulation of a basolateral located, DIDS-sensitive, Cl-/HCO3 (-) exchanger, anion exchanger 2 (AE2; SLC4A2) which is postulated to act as an acid loader, and therefore potential regulator of HCO3 (-) secretion, in human airway epithelial cells. Using intracellular pH measurements performed on Calu-3 cells, we demonstrate that the activity of the basolateral Cl-/HCO3 (-) exchanger was significantly downregulated by cAMP agonists, via a PKA-independent mechanism and also required Ca2+ and calmodulin under resting conditions. AE2 contains potential phosphorylation sites by a calmodulin substrate, protein kinase CK2, and we demonstrated that AE2 activity was reduced in the presence of CK2 inhibition. Moreover, CK2 inhibition abolished the activity of AE2 in primary human nasal epithelia. Studies performed on mouse AE2 transfected into HEK-293T cells confirmed almost identical Ca2+/calmodulin and CK2 regulation to that observed in Calu-3 and primary human nasal cells. Furthermore, mouse AE2 activity was reduced by genetic knockout of CK2, an effect which was rescued by exogenous CK2 expression. Together, these findings are the first to demonstrate that CK2 is a key regulator of Cl--dependent HCO3 (-) export at the serosal membrane of human airway epithelial cells

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.

IntroductionMucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogeneity and progressive nature of MPS VI necessitates a multidisciplinary team approach and there is a need for robust guidance to achieve optimal management. This programme was convened to develop evidence-based, expert-agreed recommendations for the general principles of management, routine monitoring requirements and the use of medical and surgical interventions in patients with MPS VI.Methods26 international healthcare professionals from various disciplines, all with expertise in managing MPS VI, and three patient advocates formed the Steering Committee group (SC) and contributed to the development of this guidance. Members from six Patient Advocacy Groups (PAGs) acted as advisors and attended interviews to ensure representation of the patient perspective. A modified-Delphi methodology was used to demonstrate consensus among a wider group of healthcare professionals with expertise and experience managing patients with MPS VI and the manuscript has been evaluated against the validated Appraisal of Guidelines for Research and Evaluation (AGREE II) instrument by three independent reviewers.ResultsA total of 93 guidance statements were developed covering five domains: (1) general management principles; (2) recommended routine monitoring and assessments; (3) enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT); (4) interventions to support respiratory and sleep disorders; (5) anaesthetics and surgical interventions. Consensus was reached on all statements after two rounds of voting. The greatest challenges faced by patients as relayed by consultation with PAGs were deficits in endurance, dexterity, hearing, vision and respiratory function. The overall guideline AGREE II assessment score obtained for the development of the guidance was 5.3/7 (where 1 represents the lowest quality and 7 represents the highest quality of guidance).ConclusionThis manuscript provides evidence- and consensus-based recommendations for the management of patients with MPS VI and is for use by healthcare professionals that manage the holistic care of patients with the intention to improve clinical- and patient-reported outcomes and enhance patient quality of life. It is recognised that the guidance provided represents a point in time and further research is required to address current knowledge and evidence gaps

Septic physeal separation of proximal femur in a newborn

In newborns physeal separations and septic osteomyelitis or arthritis are unusual, representing a problem in diagnosis and treatment. Therapy needs to be carried out soon in order to prevent anatomical and functional consequences. Association between septic event and physeal separation is rare. We report a 28-day-old female, admitted for elevated temperature, who underwent three nonorthopaedic surgical procedures before, and orthopaedic evaluation 8 days after admission. After an X-ray and an ultrasonography a septic arthritis with consequent hip dislocation was supposed. Only at the time of surgery a separation between the epiphysio-trochanteric nuclei complex and the femoral shaft was observed, with clear hip joint. The interest in this case consists in the difficulty of the differential diagnosis at the first evaluation, the orthopaedic misdiagnosis based on the lack of complete preoperative imaging, and finally the long-term excellent result after a prompt surgical treatment

Yersinia pseudotuberculosis Septicemia and HIV

Two cases of community-acquired septicemia caused by serotype-O1 Yersinia pseudotuberculosis were diagnosed in middle-aged, HIV-positive, immunodeficient patients during an 8-month period. Bacterial isolates were genetically indistinguishable, but no epidemiologic link between the 2 patients was established. HIV-related immunosuppression should be regarded as a risk factor for Y. pseudotuberculosis septicemia

Estudios geoarqueológicos de fuentes y canteras líticas de las Sierras Pampeanas y llanuras adyacentes

El material lítico es el elemento de mayor abundancia en los registros arqueológicos de Sierras Centrales y sus llanuras adyacentes. Los estudios realizados sobre el mismo utilizan diferentes escalas espaciales, metodologías de campo y laboratorio. Sin embargo, los programas de investigación orientados a la detección de fuentes de aprovisionamiento y canteras arqueológicas no tienen en la región un desarrollo similar al de otras regiones del Argentina. En este trabajo se presentan las líneas iniciales de un proyecto de escala macrorregional, específicamente orientado a su estudio. Los resultados alcanzados hasta el momento permitieron identificar numerosas canteras y fuentes en las provincias de San Luis, Córdoba, La Rioja y Catamarca. En ese marco, proponemos un modelo de yacencia de rocas silíceas. El mismo permite entender por un lado la génesis de las rocas identificadas y, por otra parte, se constituye como el primer modelo predictivo de escala amplia para el centro de Argentina