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1. ICU healthcare staff reconnecting with families during COVID-19: the ICU-open project.

Author

Mauri, A, Russo, S, Ferrari, A, Menato, L, Baldo, C, Strepparava, M, Peta, M, Mauri A., Russo S., Ferrari A., Menato L., Baldo C., Strepparava M. G., Peta M., Mauri, A, Russo, S, Ferrari, A, Menato, L, Baldo, C, Strepparava, M, Peta, M, Mauri A., Russo S., Ferrari A., Menato L., Baldo C., Strepparava M. G., and Peta M.

Abstract

Background. — The coronavirus disease of 2019 (Covid-19) pandemic led to strict visitation restrictions in Intensive Care Units (ICUs), negatively impacting patients, families, and healthcare workers (HCWs). The ICU-open project is a phased approach to engage with ICU patients’ families and reintroduce family visits during the Covid-19 pandemic. The ICU-open project embodies the unwavering commitment to a family-centred approach of the Cà Foncello-Treviso Hospital’s ICU staff. The present work reports the perception of the project amongst HCWs and provides a snapshot of the psychological well-being of the ICU staff after the project. Methodology. — The 120 ICU HCWs who participated in the project from May 2020 to June 2021 were invited to answer an online survey. It assessed demographic information, project-related variables, attitudes towards family- and patient-centred care, and psycho-social variables, using ad-hoc items and validated measures including the Generalized Anxiety Disorder-7, Patient Health Questionnaire-9, Moral Injury Events Scale, and Post-Traumatic Growth Inventory. Results/discussion. — Ninety-two HCWs (72% nurses; 65.5% female) completed the survey. HCWs highly valued the ICU-open project for both themselves and patients’ families. Positive perception of the project phases was associated with reduced levels of perceived moral transgressions. One-third of the participants reported moderate to severe levels of anxiety and depression, with notable post-traumatic growth observed in various dimensions.

Published
2024

3. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Author

Rots, D., Jakub, T.E., Keung, C., Jackson, A., Banka, S., Pfundt, R.P., Vries, B.B.A. de, Jaarsveld, R.H. van, Hopman, S.M.J., Binsbergen, E. van, Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, F., Goldenberg, A., Hertz, J.M., Andersen, C.B., Kibæk, M., Prijoles, E.J., Stevenson, R.E., Everman, D.B., Patterson, W.G., Meng, L., Gijavanekar, C., Dios, K. De, Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P.J., Lopez Garcia, M.S., Perrier, R., Sousa, S.B., Almeida, P.M., Simões, M.J., Isidor, B., Deb, W., Schmanski, A.A., Abdul-Rahman, O., Philippe, C., Bruel, A.L., Faivre, L., Vitobello, A., Thauvin, C., Smits, J.J., Garavelli, L., Caraffi, S.G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L van, Sinnema, M., Stegmann, A.P.A., Stumpel, C.T., Tiller, G.E., Bosch, D.G.M., Potgieter, S.T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A.G., Freitag, C.M., Satterstrom, F.K., Rubeis, S. de, Buxbaum, J., Gelb, B.D., Branko, A., Kushima, I., Howe, J., Scherer, S.W., Arado, A., Baldo, C., Patat, O., Bénédicte, D., Lopergolo, D., Santorelli, F.M., Haack, T.B., Dufke, A., Bertrand, M., Falb, R.J., Rieß, A., Krieg, P., Spranger, S., Bedeschi, M.F., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M.F., Liebelt, J., Dagli, A.I., Aten, E., Hurst, A.C.E., Hicks, A., Suri, M., Aliu, E., Naik, S., Sidlow, R., Coursimault, J., Nicolas, G., Küpper, H., Petit, F., Ibrahim, V., Top, D., Cara, F. Di, Louie, R.J., Stolerman, E., Brunner, H.G., Vissers, L.E.L.M., Kramer, J.M., Kleefstra, T., Rots, D., Jakub, T.E., Keung, C., Jackson, A., Banka, S., Pfundt, R.P., Vries, B.B.A. de, Jaarsveld, R.H. van, Hopman, S.M.J., Binsbergen, E. van, Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, F., Goldenberg, A., Hertz, J.M., Andersen, C.B., Kibæk, M., Prijoles, E.J., Stevenson, R.E., Everman, D.B., Patterson, W.G., Meng, L., Gijavanekar, C., Dios, K. De, Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P.J., Lopez Garcia, M.S., Perrier, R., Sousa, S.B., Almeida, P.M., Simões, M.J., Isidor, B., Deb, W., Schmanski, A.A., Abdul-Rahman, O., Philippe, C., Bruel, A.L., Faivre, L., Vitobello, A., Thauvin, C., Smits, J.J., Garavelli, L., Caraffi, S.G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L van, Sinnema, M., Stegmann, A.P.A., Stumpel, C.T., Tiller, G.E., Bosch, D.G.M., Potgieter, S.T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A.G., Freitag, C.M., Satterstrom, F.K., Rubeis, S. de, Buxbaum, J., Gelb, B.D., Branko, A., Kushima, I., Howe, J., Scherer, S.W., Arado, A., Baldo, C., Patat, O., Bénédicte, D., Lopergolo, D., Santorelli, F.M., Haack, T.B., Dufke, A., Bertrand, M., Falb, R.J., Rieß, A., Krieg, P., Spranger, S., Bedeschi, M.F., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M.F., Liebelt, J., Dagli, A.I., Aten, E., Hurst, A.C.E., Hicks, A., Suri, M., Aliu, E., Naik, S., Sidlow, R., Coursimault, J., Nicolas, G., Küpper, H., Petit, F., Ibrahim, V., Top, D., Cara, F. Di, Louie, R.J., Stolerman, E., Brunner, H.G., Vissers, L.E.L.M., Kramer, J.M., and Kleefstra, T.

Abstract

Item does not contain fulltext, De novo variants are a leading cause of neurodevelopmental disorders (NDDs), but because every monogenic NDD is different and usually extremely rare, it remains a major challenge to understand the complete phenotype and genotype spectrum of any morbid gene. According to OMIM, heterozygous variants in KDM6B cause "neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities." Here, by examining the molecular and clinical spectrum of 85 reported individuals with mostly de novo (likely) pathogenic KDM6B variants, we demonstrate that this description is inaccurate and potentially misleading. Cognitive deficits are seen consistently in all individuals, but the overall phenotype is highly variable. Notably, coarse facies and distal skeletal anomalies, as defined by OMIM, are rare in this expanded cohort while other features are unexpectedly common (e.g., hypotonia, psychosis, etc.). Using 3D protein structure analysis and an innovative dual Drosophila gain-of-function assay, we demonstrated a disruptive effect of 11 missense/in-frame indels located in or near the enzymatic JmJC or Zn-containing domain of KDM6B. Consistent with the role of KDM6B in human cognition, we demonstrated a role for the Drosophila KDM6B ortholog in memory and behavior. Taken together, we accurately define the broad clinical spectrum of the KDM6B-related NDD, introduce an innovative functional testing paradigm for the assessment of KDM6B variants, and demonstrate a conserved role for KDM6B in cognition and behavior. Our study demonstrates the critical importance of international collaboration, sharing of clinical data, and rigorous functional analysis of genetic variants to ensure correct disease diagnosis for rare disorders.

Published
2023

19. Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Author

Ivanovski, I. (Ivan), Djuric, O. (Olivera), Caraffi, S.G. (Stefano Giuseppe), Santodirocco, D. (Daniela), Pollazzon, M. (Marzia), Rosato, S. (Simonetta), Cordelli, D.M. (Duccio M.), Abdalla, E. (Ebtesam), Accorsi, P. (Patrizia), Adam, M.P. (Margaret), Ajmone, P.F. (Paola Francesca), Badura-Stronka, M. (Magdalena), Baldo, C. (Chiara), Baldi, M. (Maddalena), Bayat, A. (Allan), Bigoni, S. (Stefania), Bonvicini, F. (Federico), Breckpot, J. (Jeroen), Callewaert, L., Cocchi, G. (Guido), Cuturilo, G. (Goran), De Brasi, D. (Daniele), Devriendt, K. (Koenraad), Dinulos, M.B. (Mary Beth), Hjortshøj, T.D. (Tina Duelund), Epifanio, R. (Roberta), Faravelli, F. (Francesca), Fiumara, A. (Agata), Formisano, D. (Debora), Giordano, L. (Lucio), Grasso, M. (Marina), Grønborg, S. (Sabine), Iodice, A. (Alessandro), Iughetti, L. (Lorenzo), Kuburovic, V. (Vladimir), Kutkowska-Kazmierczak, A. (Anna), Lacombe, D. (Didier), Lo Rizzo, C. (Caterina), Luchetti, A. (Anna), Malbora, B. (Baris), Mammi, I. (Isabella), Mari, F. (Francesca), Montorsi, G. (Giulia), Moutton, S. (Sebastien), Møller, R.S. (Rikke), Muschke, P. (Petra), Nielsen, J.E.K. (Jens Erik Klint), Obersztyn, E. (Ewa), Pantaleoni, C. (Chiara), Pellicciari, A. (Alessandro), Pisanti, M.A. (Maria Antonietta), Prpic, I. (Igor), Poch-Olive, M.L. (Maria Luisa), Raviglione, F. (Federico), Renieri, A. (Alessandra), Ricci, E. (Emilia), Rivieri, F. (Francesca), Santen, G.W.E. (Gijs), Savasta, S. (Salvatore), Scarano, G. (Gioacchino), Schanze, I. (Ina), Selicorni, A. (Angelo), Silengo, M.C., Smigiel, R. (Robert), Spaccini, L. (Luigina), Sorge, G. (Giovanni), Szczaluba, K. (Krzysztof), Tarani, L. (Luigi), Tone, L.G. (Luis Gonzaga), Toutain, A. (Annick), Trimouille, A. (Aurelien), Valera, E.T. (Elvis Terci), Vergano, S.S. (Samantha Schrier), Zanotta, N. (Nicoletta), Zenker, M. (Martin), Conidi, A. (Andrea), Zollino, M., Rauch, A., Zweier, C. (Christiane), Garavelli, L. (Livia), Ivanovski, I. (Ivan), Djuric, O. (Olivera), Caraffi, S.G. (Stefano Giuseppe), Santodirocco, D. (Daniela), Pollazzon, M. (Marzia), Rosato, S. (Simonetta), Cordelli, D.M. (Duccio M.), Abdalla, E. (Ebtesam), Accorsi, P. (Patrizia), Adam, M.P. (Margaret), Ajmone, P.F. (Paola Francesca), Badura-Stronka, M. (Magdalena), Baldo, C. (Chiara), Baldi, M. (Maddalena), Bayat, A. (Allan), Bigoni, S. (Stefania), Bonvicini, F. (Federico), Breckpot, J. (Jeroen), Callewaert, L., Cocchi, G. (Guido), Cuturilo, G. (Goran), De Brasi, D. (Daniele), Devriendt, K. (Koenraad), Dinulos, M.B. (Mary Beth), Hjortshøj, T.D. (Tina Duelund), Epifanio, R. (Roberta), Faravelli, F. (Francesca), Fiumara, A. (Agata), Formisano, D. (Debora), Giordano, L. (Lucio), Grasso, M. (Marina), Grønborg, S. (Sabine), Iodice, A. (Alessandro), Iughetti, L. (Lorenzo), Kuburovic, V. (Vladimir), Kutkowska-Kazmierczak, A. (Anna), Lacombe, D. (Didier), Lo Rizzo, C. (Caterina), Luchetti, A. (Anna), Malbora, B. (Baris), Mammi, I. (Isabella), Mari, F. (Francesca), Montorsi, G. (Giulia), Moutton, S. (Sebastien), Møller, R.S. (Rikke), Muschke, P. (Petra), Nielsen, J.E.K. (Jens Erik Klint), Obersztyn, E. (Ewa), Pantaleoni, C. (Chiara), Pellicciari, A. (Alessandro), Pisanti, M.A. (Maria Antonietta), Prpic, I. (Igor), Poch-Olive, M.L. (Maria Luisa), Raviglione, F. (Federico), Renieri, A. (Alessandra), Ricci, E. (Emilia), Rivieri, F. (Francesca), Santen, G.W.E. (Gijs), Savasta, S. (Salvatore), Scarano, G. (Gioacchino), Schanze, I. (Ina), Selicorni, A. (Angelo), Silengo, M.C., Smigiel, R. (Robert), Spaccini, L. (Luigina), Sorge, G. (Giovanni), Szczaluba, K. (Krzysztof), Tarani, L. (Luigi), Tone, L.G. (Luis Gonzaga), Toutain, A. (Annick), Trimouille, A. (Aurelien), Valera, E.T. (Elvis Terci), Vergano, S.S. (Samantha Schrier), Zanotta, N. (Nicoletta), Zenker, M. (Martin), Conidi, A. (Andrea), Zollino, M., Rauch, A., Zweier, C. (Christiane), and Garavelli, L. (Livia)

Abstract

Purpose: Mowat–Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype–phenotype correlations of MWS. Methods: In a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations. Results: All anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluatio

Published
2018
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20. Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Author

Ivanovski, I, Djuric, O, Caraffi, SG, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, MP, Ajmone, PF, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, DeVriendt, K, Dinulos, MB, Hjortshoj, TD, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Gronborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Moller, RS, Muschke, P, Nielsen, JEK, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, MA, Prpic, I, Poch-Olive, ML, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, GW, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, LG, Toutain, A, Trimouille, A, Valera, ET, Vergano, SS, Zanotta, N, Zenker, M, Conidi, Andrea, Zollino, M, Rauch, A, Zweier, C, Garavelli, L, Ivanovski, I, Djuric, O, Caraffi, SG, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, MP, Ajmone, PF, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, DeVriendt, K, Dinulos, MB, Hjortshoj, TD, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Gronborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Moller, RS, Muschke, P, Nielsen, JEK, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, MA, Prpic, I, Poch-Olive, ML, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, GW, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, LG, Toutain, A, Trimouille, A, Valera, ET, Vergano, SS, Zanotta, N, Zenker, M, Conidi, Andrea, Zollino, M, Rauch, A, Zweier, C, and Garavelli, L

Published
2018

22. Production of fructooligosaccharides by Bacillus subtilis natto CCT7712 and their antiproliferative potential.

Author

Magri, A., Oliveira, M.R., Baldo, C., Tischer, C.A., Sartori, D., Mantovani, M.S., and Celligoi, M.A.P.C.

Subjects
BACILLUS subtilis, FRUCTOOLIGOSACCHARIDES, CELL proliferation, SUCROSE
Abstract

Aims: Fructooligosaccharides (FOSs) known for their health properties and β‐(2→6)‐levan‐type FOSs have shown prebiotic and immunomodulatory activities that overcome those of commercial β‐(2→1)‐FOSs, but costs do not favour their use. Moreover, FOSs can reach the bloodstream through the diet, and little is known about their direct effect on cells. The aim of this work was to produce high‐content FOSs by Bacillus subtilis natto CCT7712 in a bioreactor using commercial sucrose and to evaluate their antiproliferative effects in OVCAR‐3 cells. Methods and Results: FOS production reached 173·60 g l−1, 0·2 vvm aeration and uncontrolled pH. Levan‐type FOSs, composed of β‐(2 → 6) links and mainly GF3 (6‐nystose), were identified using RMN spectroscopy, FT‐IR and ESI‐MS. FOSs decreased the viability and proliferation of OVCAR‐3 cells, and the effects were associated with an increased pro‐inflammatory response by the induction of IL‐8 and TNF‐α, and the repression of ER‐β genes. The metabolic profiles showed disruption of cellular homeostasis that can be associated with a decrease in proliferation. Conclusions: The high production of levan‐type FOSs from B. subtilis natto CCT7712 in a bioreactor was achieved, and they showed antiproliferative potential in OVCAR‐3 cells. Significance and Impact of the Study: FOS could be a good target for future therapeutic studies and commercial use. [ABSTRACT FROM AUTHOR]

Published
2020
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24. Guideline recommendations for diagnosis and clinical management of Ring14 syndrome - first report of an ad hoc task force

Author

Rinaldi, B, Vaisfeld, A, Amarri, S, Baldo, C, Gobbi, G, Magini, P, Melli, E, Neri, G, Novara, F, Pippucci, T, Rizzi, R, Soresina, A, Zampini, L, Zuffardi, O, Crimi, M, Crimi, M., ZAMPINI, LAURA, Rinaldi, B, Vaisfeld, A, Amarri, S, Baldo, C, Gobbi, G, Magini, P, Melli, E, Neri, G, Novara, F, Pippucci, T, Rizzi, R, Soresina, A, Zampini, L, Zuffardi, O, Crimi, M, Crimi, M., and ZAMPINI, LAURA

Abstract

Background: Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues. Results: The aim of this work is to provide recommendations for the diagnosis and management of persons affected by ring chromosome 14 syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years subjects affected by ring chromosome 14 syndrome. The literature search was performed in 2016. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus. Conclusion: Conventional cytogenetics is the primary tool to identify a ring chromosome. Children with a terminal deletion of chromosome 14q ascertained by molecular karyotyping (CGH/SNP array) should be tested secondarily by conventional cytogenetics for the presence of a ring chromosome. Early diagnosis should be pursued in order to provide medical and social assistance by a multidisciplinary team. Clinical investigations, including neurophysiology for epilepsy, should be performed at the diagnosis and within the follow-up. Following the diagnosis, patients and relatives/caregivers should receive regular care for health and social issues. Epilepsy should be treated from the onset with anticonvulsive therapy. Likewise, feeding difficulties should be treated according to need. Nutritional assessment is recommended for all patients and nutritional support for malnourishment can include gastrostomy feeding in selected cases. Presence of autistic traits should be carefully evaluated. Many patients with ring chromosome 14 syndrome are nonverbal and thus maintaining their ability to communicate is always essential; every effort should be made to preserve their autonomy.

Published
2017

25. Increased dosage of the brain-disease gene ARX affects transcriptional activity and chromatin remodelling and may clear up Intellectual Disability (ID) found in a male patient with a Xp21.3 duplication

Author

Malacarne M, Padula A, Baldo C, Piccione M, Meli F, Poeta L, Coviello D, and Miano MG

Subjects
NDD, XLID, ARX
Abstract

Protein-coding mutations in Aristaless related homeobox (ARX) cause various forms of Neurodevelopmental diseases (NDDs) such as X-linked ID and epilepsy. Nevertheless, dosage sensitivity of ARX locus is an emerging question since it has been recently demonstrated that breakpoints in enhancer elements of ARX can alter its tissue-specific expression in the developing brain. On the other hand, the Xp21 region, where ARX maps, undergoes frequent genomic rearrangements detected in neurobehavioral phenotypes. We report the characterization of a novel interstitial Xp21.3 duplication detected by GCH Microarray.We compared clinical features and functional findings established in this XLID case to those identified in our cohort of ARX patients and discuss how unbalance dosages of this crucial neuronal TF, associated with both increased and diminished activity, may induce similar cognitive outcomes.

Published
2016

27. Guided Tissue Regeneration Procedure in the Treatment of a Bone Dehiscence Associated With a Gingival Recession: A Case Report.

Author

Cortellini, P., Prato, G. P. Pini, DeSanctis, M., Baldo, C., and Clouser, C.

Subjects
GUIDED tissue regeneration, PERIODONTICS, WOMEN patients, PERIODONTAL pockets, PERIODONTITIS
Abstract

The article describes the case of 41-year-old woman who underwent guided tissue regeneration. The said patient was subjected to the said process in order to treat a bone dehiscence related to a gingival recession. It is noted that the patient experienced a recurrence of pocket formation and recession on a mandibular left central incisor.

Published
1991

28. ICU healthcare staff reconnecting with families during Covid-19: the ICU-open project

Author

Russo, S, Ferrari, A, Menato, L, Baldo, C, Strepparava, M G, Peta, M, and Mauri, A

Abstract

Background: The coronavirus disease of 2019 (Covid-19) pandemic led to strict visitation restrictions in Intensive Care Units (ICUs), negatively impacting patients, families, and healthcare workers (HCWs).The ICU-open project is a phased approach to engage with ICU patients' families and reintroduce family visits during the Covid-19 pandemic. The ICU-open project embodies the unwavering commitment to a family-centred approach of the CàFoncello-Treviso Hospital's ICU staff. The present work reports the perception of the project amongst HCWs and provides a snapshot of the psychological well-being of the ICU staff after the project.

Published
2024
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34. Effects of acid-base imbalance on vascular reactivity

Author

Celotto, A. C., Capellini, V. K., Baldo, C. F., Dalio, M. B., Alfredo Rodrigues, and Evora, P. R. B.

Subjects
lcsh:R5-920, lcsh:Biology (General), Acid-base balance, Nitric oxide, Alkalosis, Endothelium, lcsh:Medicine (General), Acidosis, lcsh:QH301-705.5, Vascular reactivity
Abstract

Acid-base homeostasis maintains systemic arterial pH within a narrow range. Whereas the normal range of pH for clinical laboratories is 7.35-7.45, in vivo pH is maintained within a much narrower range. In clinical and experimental settings, blood pH can vary in response to respiratory or renal impairment. This altered pH promotes changes in vascular smooth muscle tone with impact on circulation and blood pressure control. Changes in pH can be divided into those occurring in the extracellular space (pHo) and those occurring within the intracellular space (pHi), although, extracellular and intracellular compartments influence each other. Consistent with the multiple events involved in the changes in tone produced by altered pHo, including type of vascular bed, several factors and mechanisms, in addition to hydrogen ion concentration, have been suggested to be involved. The scientific literature has many reports concerning acid-base balance and endothelium function, but these concepts are not clear about acid-base disorders and their relations with the three known mechanisms of endothelium-dependent vascular reactivity: nitric oxide (NO/cGMP-dependent), prostacyclin (PGI2/cAMP-dependent) and hyperpolarization. During the last decades, many studies have been published and have given rise to confronting data on acid-base disorder and endothelial function. Therefore, the main proposal of this review is to provide a critical analysis of the state of art and incentivate researchers to develop more studies about these issues.

Published
2008

37. Efeitos da hipercapnia sobre o índice biespectral

Author

Baldo, C. F., Freitas, P. M. C., Arruda, L. M., and Nunes, N.

Subjects
O artigo não apresenta palavras-chave, lcsh:Animal culture, lcsh:SF1-1100
Abstract

O artigo não apresenta resumo.

Published
2004

38. Microarray transcript profiling distinguishes the transient from the acute forms of megakaryoblastic leukemia (M7) in Down's syndrome

Author

Mcelwaine, S, Mulligan, C, Groet, J, Spinelli, M, Rinaldi, A, Denyer, G, Mensah, A, Cavani, S, Baldo, C, DAGNA BRICARELLI, F, Hann, I, Basso, Giuseppe, Cotter, Fe, and Nizetic, D.

Subjects
transient myeloproliferative disorder, Down's syndrome,microarray,transient myeloproliferative disorder,acute megakaryoblastic leukaemia (M7), acute megakaryoblastic leukaemia (M7), Down's syndrome, microarray
Published
2004

40. Telethon Network of Genetic Biobanks: A key service for diagnosis and research on rare diseases

Author

Filocamo, M, Baldo, C, Goldwurm, S, Renieri, A, Angelini, C, Moggio, M, Mora, M, Merla, G, Politano, L, Garavaglia, B, Casareto, L, Bricarelli, F, Gibertini, S, GIBERTINI, SARA, Filocamo, M, Baldo, C, Goldwurm, S, Renieri, A, Angelini, C, Moggio, M, Mora, M, Merla, G, Politano, L, Garavaglia, B, Casareto, L, Bricarelli, F, Gibertini, S, and GIBERTINI, SARA

Abstract

Several examples have always illustrated how access to large numbers of biospecimens and associated data plays a pivotal role in the identification of disease genes and the development of pharmaceuticals. Hence, allowing researchers to access to significant numbers of quality samples and data, genetic biobanks are a powerful tool in basic, translational and clinical research into rare diseases. Recently demand for well-annotated and properly-preserved specimens is growing at a high rate, and is expected to grow for years to come. The best effective solution to this issue is to enhance the potentialities of well-managed biobanks by building a network.Here we report a 5-year experience of the Telethon Network of Genetic Biobanks (TNGB), a non-profit association of Italian repositories created in 2008 to form a virtually unique catalogue of biospecimens and associated data, which presently lists more than 750 rare genetic defects. The process of TNGB harmonisation has been mainly achieved through the adoption of a unique, centrally coordinated, IT infrastructure, which has enabled (i) standardisation of all the TNGB procedures and activities; (ii) creation of an updated TNGB online catalogue, based on minimal data set and controlled terminologies; (iii) sample access policy managed via a shared request control panel at web portal. TNGB has been engaged in disseminating information on its services into both scientific/biomedical - national and international - contexts, as well as associations of patients and families. Indeed, during the last 5-years national and international scientists extensively used the TNGB with different purposes resulting in more than 250 scientific publications. In addition, since its inception the TNGB is an associated member of the Biobanking and Biomolecular Resources Research Infrastructure and recently joined the EuroBioBank network. Moreover, the involvement of patients and families, leading to the formalization of various agreements betwe

Published
2013

44. Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth

Author

Cecconi, Maurizio, Forzano, F., Milani, Daniela, Cavani, S., Baldo, C., Selicorni, Angelo, Pantaleoni, C., Silengo, M., Ferrero, G. B., Scarano, Gioacchino, Della Monica, M., Fischetto, R., Grammatico, P., Majore, S., Zampino, Giuseppe, Memo, Luigi, Cordisco, E. L., Neri, Giovanni, Pierluigi, M., Bricarelli, F. D., Grasso, M., Faravelli, F., Zampino, Giuseppe (ORCID:0000-0003-3865-3253), Cecconi, Maurizio, Forzano, F., Milani, Daniela, Cavani, S., Baldo, C., Selicorni, Angelo, Pantaleoni, C., Silengo, M., Ferrero, G. B., Scarano, Gioacchino, Della Monica, M., Fischetto, R., Grammatico, P., Majore, S., Zampino, Giuseppe, Memo, Luigi, Cordisco, E. L., Neri, Giovanni, Pierluigi, M., Bricarelli, F. D., Grasso, M., Faravelli, F., and Zampino, Giuseppe (ORCID:0000-0003-3865-3253)

Abstract

N/A

Published
2005

50. Collagen binding is a key factor for the hemorrhagic activity of snake venom metalloproteinases

Author

Moura-da-Silva, A.M., primary, Ramos, O.H.P., additional, Baldo, C., additional, Niland, S., additional, Hansen, U., additional, Ventura, J.S., additional, Furlan, S., additional, Butera, D., additional, Della-Casa, M.S., additional, Tanjoni, I., additional, Clissa, P.B., additional, Fernandes, I., additional, Chudzinski-Tavassi, A.M., additional, and Eble, J.A., additional

Published
2008
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