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Article ; Online: Late-onset Pompe disease (LOPD): May axial myopathy influence respiratory dysfunction?

Ravaglia, Sabrina / Barbarito, Nicola / Malovini, Alberto / Cirio, Serena / Pichiecchio, Anna / De Filippi, Paola / Danesino, Cesare / Carlucci, Annalisa

Pulmonology

2021 Volume 27, Issue 6, Page(s) 566–568

MeSH term(s)	Glycogen Storage Disease Type II/complications ; Glycogen Storage Disease Type II/diagnosis ; Humans ; Muscular Diseases ; Respiration Disorders
Language	English
Publishing date	2021-07-10
Publishing country	Spain
Document type	Letter
ZDB-ID	3009651-0
ISSN	2531-0437 ; 2531-0429
ISSN (online)	2531-0437
ISSN	2531-0429
DOI	10.1016/j.pulmoe.2021.06.002
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Article: Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up.

Ravaglia, Sabrina / de Giuseppe, Rachele / Carlucci, Annalisa / Jehne, Susan / Crescimanno, Grazia / Ahmad, Lara / Paoletti, Matteo / Clemente, Gabriele / Pichiecchio, Anna / Bazzano, Rosella / Cirio, Serena / Valente, Enza Maria / Danesino, Cesare / De Filippi, Paola / Tartara, Alice / Cena, Hellas

Frontiers in cell and developmental biology

2022 Volume 10, Page(s) 793566

Abstract: Background: ...

Abstract	Background:
Language	English
Publishing date	2022-02-18
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2737824-X
ISSN	2296-634X
ISSN	2296-634X
DOI	10.3389/fcell.2022.793566
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Article ; Online: Prevalence and predictors of atrial fibrillation in patients with embolic stroke of undetermined source: a real-life single-center retrospective study.

Melis, Fabio / Guido, Marilena / Amellone, Claudia / Suppo, Marco / Bonanno, Maria / Bovio, Consuelo / Pessia, Andrea / Savio, Katia / Lucciola, Maria Teresa / Ebrille, Elisa / Guastamacchia, Giulia / Cassano, Daniela / Filippi, Paola / Milano, Eva / Giammaria, Massimo / Imperiale, Daniele

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

2021 Volume 42, Issue 9, Page(s) 3707–3714

Abstract: Introduction: Up to one-third of ischemic strokes remained cryptogenic despite extensive investigations. Atrial fibrillation may be detected in a significant proportion of patients with embolic stroke of undetermined source, particularly after the ... ...

Abstract	Introduction: Up to one-third of ischemic strokes remained cryptogenic despite extensive investigations. Atrial fibrillation may be detected in a significant proportion of patients with embolic stroke of undetermined source, particularly after the introduction of implantable loop recorder in clinical practice. Methods: We retrospectively included all the consecutive patients with embolic stroke of undetermined source referred to our units in the period November 2013 to December 2018 and in which an implantable loop recorder was positioned within 6 months from stroke event. Prevalence and predictors of atrial fibrillation were investigated. Results: One hundred thirty-eight patients with embolic stroke of undetermined source fulfilling inclusion criteria were identified. The crude prevalence of atrial fibrillation at the end of observation period was of 45.7%. Incidence rates at 6, 12, 18, 24, and 36 months resulted, respectively, 31.8% (95% CI, 30.4-46.7), 38.0% (95% CI, 30.4-46.9), 42.6% (95% CI, 34.5-51.6), 46.6% (95% CI, 38.2-55.8), and 50.4% (95% CI, 41.6-59.9). On multivariate analysis, only excessive supraventricular electric activity and left atrial enlargement resulted to be significant predictors of atrial fibrillation (p = 0.037 and p < 0.0001, respectively). Conclusions: Atrial fibrillation may be detected in a relevant proportion (up to 50%) of patients with embolic stroke of undetermined source if a careful and extensive diagnostic work-up is employed. Excessive supraventricular electric activity and left atrial enlargement are significant predictors of the occurrence of atrial fibrillation in these patients.
MeSH term(s)	Atrial Fibrillation/complications ; Atrial Fibrillation/diagnosis ; Atrial Fibrillation/epidemiology ; Embolic Stroke ; Humans ; Intracranial Embolism/epidemiology ; Prevalence ; Retrospective Studies ; Risk Factors ; Stroke/epidemiology ; Stroke/etiology
Language	English
Publishing date	2021-01-14
Publishing country	Italy
Document type	Journal Article
ZDB-ID	2016546-8
ISSN	1590-3478 ; 1590-1874
ISSN (online)	1590-3478
ISSN	1590-1874
DOI	10.1007/s10072-020-04963-9
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Article ; Online: Polymorphism in exercise genes and respiratory function in late-onset Pompe disease.

Ravaglia, Sabrina / Malovini, Alberto / Cirio, Serena / Danesino, Cesare / De Filippi, Paola / Moggio, Maurizio / Mongini, Tiziana / Maggi, Lorenzo / Servidei, Serena / Vianello, Andrea / Toscano, Antonio / Tonin, Paola / Maioli, Maria Antonietta / Parini, Rossella / Filosto, Massimiliano / Crescimanno, Grazia / Arceri, Sebastiano / Piran, Manuela / Carlucci, Annalisa

Journal of applied physiology (Bethesda, Md. : 1985)

2021 Volume 131, Issue 6, Page(s) 1762–1771

Abstract: Genetic polymorphisms influencing muscle structure and metabolism may affect the phenotype of metabolic myopathies. We here analyze the possible influence of a wide panel of "exercise genes" on the severity and progression of respiratory dysfunction in ... ...

Abstract	Genetic polymorphisms influencing muscle structure and metabolism may affect the phenotype of metabolic myopathies. We here analyze the possible influence of a wide panel of "exercise genes" on the severity and progression of respiratory dysfunction in late-onset Pompe disease (LOPD). We stratified patients with comparable age and disease duration according to the severity of their respiratory phenotype, assessed by both upright FVC% and postural drop in FVC%. We included 43 patients with LOPD (25 males, age 50.8 ± 13.6 yr) with a 2-yr follow-up since the beginning of enzyme replacement therapy (ERT). Twenty-two patients showed a postural drop >25% T0, seven other patients developed it during the follow-up. We analyzed the relationship between the progression of respiratory dysfunction and genetic polymorphisms affecting muscle function and structure [angiotensin converting enzyme (ACE), α-actinin 3 (ACTN3), peroxisome proliferator-activated receptor α (PPR-α), angiotensin (AGT)], glycogen metabolism [glycogen synthase (GYS), glycogen synthase kinase-3 isoform β (GSK3β)], and autophagy [sirtuin 1 (SIRT1), autophagy-related gene 7 (ATG7)]. Individuals carrying two copies of the ACE D-allele shared a 24-fold increase in the risk of severe respiratory dysfunction and progression during the 2-yr follow-up. ACTN3-XX polymorphism was also associated with worse respiratory outcome. The study of exercise genes is of particular interest in respiratory muscles, due to their peculiar features, that is, continuous, low-intensity contraction and prominent recruitment of type I fibers. In line with previous observations on skeletal muscles, ACE-DD and ACTN3-XX genotypes were associated with indirect evidence of more severe respiratory phenotypes. On the contrary, polymorphisms related to autophagy and glycogen metabolism did not seem to influence respiratory muscles.
MeSH term(s)	Actinin/genetics ; Adult ; Enzyme Replacement Therapy ; Exercise ; Female ; Glycogen Storage Disease Type II/genetics ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic
Chemical Substances	ACTN3 protein, human ; Actinin (11003-00-2)
Language	English
Publishing date	2021-11-04
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	219139-8
ISSN	1522-1601 ; 0021-8987 ; 0161-7567 ; 8750-7587
ISSN (online)	1522-1601
ISSN	0021-8987 ; 0161-7567 ; 8750-7587
DOI	10.1152/japplphysiol.00154.2020
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Article ; Online: Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).

De Filippi, Paola / Errichiello, Edoardo / Toscano, Antonio / Mongini, Tiziana / Moggio, Maurizio / Ravaglia, Sabrina / Filosto, Massimiliano / Servidei, Serenella / Musumeci, Olimpia / Giannini, Fabio / Piperno, Alberto / Siciliano, Gabriele / Ricci, Giulia / Di Muzio, Antonio / Rigoldi, Miriam / Tonin, Paola / Croce, Michele Giovanni / Pegoraro, Elena / Politano, Luisa /

Maggi, Lorenzo / Telese, Roberta / Lerario, Alberto / Sancricca, Cristina / Vercelli, Liliana / Semplicini, Claudio / Pasanisi, Barbara / Bembi, Bruno / Dardis, Andrea / Palmieri, Ilaria / Cereda, Cristina / Valente, Enza Maria / Danesino, Cesare

Current issues in molecular biology

2023 Volume 45, Issue 4, Page(s) 2847–2860

Abstract: Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of ... ...

Abstract	Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the
Language	English
Publishing date	2023-04-01
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2000024-8
ISSN	1467-3045 ; 1467-3037
ISSN (online)	1467-3045
ISSN	1467-3037
DOI	10.3390/cimb45040186
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Book: La cultura tedesca in Italia

Destro, Alberto / Filippi, Paola Maria

1750 - 1850

(Biblioteca del Dipartimento di Lingue e Letterature Straniere Moderne dell'Università degli Studi di Bologna ; 11)

1995

Author's details	a cura di Alberto Destro e Paola Maria Filippi
Series title	Biblioteca del Dipartimento di Lingue e Letterature Straniere Moderne dell'Università degli Studi di Bologna ; 11
Language	Italian
Size	417 S, 24 cm
Edition	1. ed
Publisher	Pàtron
Publishing place	Bologna
Document type	Book
Note	Includes bibliographical references and index
ISBN	8855523090 ; 9788855523097
Database	Former special subject collection: coastal and deep sea fishing

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Article ; Online: Ptosis as a feature of late-onset glycogenosis type II.

Ravaglia, Sabrina / Repetto, Alessandra / De Filippi, Paola / Danesino, Cesare

Neurology

2007 Volume 69, Issue 1, Page(s) 116; author reply 116

MeSH term(s)	Blepharoptosis/etiology ; Fatigue/etiology ; Female ; Glucan 1,4-alpha-Glucosidase/deficiency ; Glucan 1,4-alpha-Glucosidase/genetics ; Glycogen Storage Disease Type II/complications ; Heterozygote ; Humans ; Introns/genetics ; Middle Aged ; Muscle Weakness/etiology ; Point Mutation ; Sequence Deletion
Chemical Substances	Glucan 1,4-alpha-Glucosidase (EC 3.2.1.3)
Language	English
Publishing date	2007-07-03
Publishing country	United States
Document type	Case Reports ; Comment ; Letter
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/01.wnl.0000270101.95790.fb
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Article ; Online: Impaired awareness of movement disorders in Parkinson's disease.

Amanzio, Martina / Monteverdi, Silvia / Giordano, Alessandra / Soliveri, Paola / Filippi, Paola / Geminiani, Giuliano

Brain and cognition

2010 Volume 72, Issue 3, Page(s) 337–346

Abstract: Background: This study analyzed the presence of awareness of movement disorders (dyskinesias and hypokinesias) in 25 patients with Parkinson's disease (PD) and motor fluctuations (dyskinesias, wearing off, on-off fluctuations). Of the few studies that ... ...

Abstract	Background: This study analyzed the presence of awareness of movement disorders (dyskinesias and hypokinesias) in 25 patients with Parkinson's disease (PD) and motor fluctuations (dyskinesias, wearing off, on-off fluctuations). Of the few studies that have dealt with this topic, none have analyzed the differences in the awareness of motor deficits by comparing the on and off states using motor scales and an extensive battery of tests to assess cognitive and behavioral functioning. Methods: PD patients were compared on three different scales that we have devised to measure awareness of movement disorders: Global Awareness of Movement (GAM) Disorders, dyskinesia/hypo-bradykinesia rating scales. Results: Data showed that PD patients had greater awareness and psychological suffering in the off state than in the on state. In particular, they were troubled by motor disabilities related to hypokinesias and had mood-related symptoms and a perception of disability in activities of daily living. Interestingly, patients only showed a selective reduction of awareness of movement disorders associated with executive functions and related to dyskinesias in the on state, compared to a preserved awareness of hypokinesias in the off state. On the contrary, no association with executive functions was found in the off state. Conclusion: Our findings suggest that the dopaminergic overstimulation of mesocorticolimbic pathways may cause a dysfunction of prefrontal-subcortical connections related to the impaired insight.
MeSH term(s)	Adult ; Aged ; Agnosia/complications ; Agnosia/diagnosis ; Agnosia/psychology ; Analysis of Variance ; Antiparkinson Agents/therapeutic use ; Awareness ; Female ; Humans ; Hypokinesia/etiology ; Hypokinesia/psychology ; Levodopa/therapeutic use ; Middle Aged ; Movement Disorders/classification ; Movement Disorders/complications ; Movement Disorders/psychology ; Neuropsychological Tests ; Parkinson Disease/complications ; Parkinson Disease/drug therapy ; Parkinson Disease/psychology ; Self Concept ; Statistics, Nonparametric
Chemical Substances	Antiparkinson Agents ; Levodopa (46627O600J)
Language	English
Publishing date	2010-04
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	603163-8
ISSN	1090-2147 ; 0278-2626
ISSN (online)	1090-2147
ISSN	0278-2626
DOI	10.1016/j.bandc.2009.10.011
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Article: LC Analysis of Oxytetracycline and Chlortetracycline: Application for In Vitro Bio-Equivalence Study of Veterinary Medicines

Mancini, Francesca / Cavallari, Cristina / Filippi, Paola / Rodriguez, Lorenzo / Di Pietra, Anna Maria / Andrisano, Vincenza

Chromatographia. 2009 Feb., v. 69, no. 3-4

2009

Abstract: A liquid chromatographic method has been applied for the analysis of two antibiotics widely used in the veterinary field, oxytetracycline dihydrate and chlortetracycline hydrochloride in premixes for medicated feeding stuffs for veterinary use. In ... ...

Abstract	A liquid chromatographic method has been applied for the analysis of two antibiotics widely used in the veterinary field, oxytetracycline dihydrate and chlortetracycline hydrochloride in premixes for medicated feeding stuffs for veterinary use. In particular, the validated method was employed to study the releasing profile of each drug from two formulations, a commercially available and a new formulation, having different excipient composition. The dissolution profiles obtained from the chromatographic analysis allowed to verify the in vitro bio-equivalence of the commercial and the new formulations for oxytetracycline and chlortetracycline.
Language	English
Dates of publication	2009-02
Size	p. 215-220.
Publisher	Vieweg Verlag
Publishing place	Wiesbaden
Document type	Article
ZDB-ID	80097-1
ISSN	0009-5893
ISSN	0009-5893
DOI	10.1365/s10337-008-0874-1
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: a report from the Italian AIEOP study group.

Bresolin, Silvia / De Filippi, Paola / Vendemini, Francesca / D'Alia, Mirko / Zecca, Marco / Meyer, Lueder H / Danesino, Cesare / Locatelli, Franco / Masetti, Riccardo / Basso, Giuseppe / Te Kronnie, Geertruy

Oncotarget

2016 Volume 7, Issue 20, Page(s) 28914–28919

Abstract: Juvenile myelomonocytic leukemia (JMML) is a rare aggressive disease of early childhood. Driver mutations in the Ras signaling pathways are a key feature of JMML patients. Mutations in SETBP1 and JAK3 were recently identified in a subset of JMML patients ...

Abstract	Juvenile myelomonocytic leukemia (JMML) is a rare aggressive disease of early childhood. Driver mutations in the Ras signaling pathways are a key feature of JMML patients. Mutations in SETBP1 and JAK3 were recently identified in a subset of JMML patients characterized by poor prognosis and progression of disease. In this study, we report the results of a screening for mutations in SETBP1 and JAK3 of a cohort of seventy Italian patients with JMML, identifying 11.4% of them harboring secondary mutations in these two genes and discovering two new mutations in the SKI domain of SETBP1.JMML xenotransplantation and colony assay provide an initial understanding of the secondary nature of these events occurring in early precursor cells and suggest a different propagating capacity of clones harboring particular mutations.
Language	English
Publishing date	2016-05-17
Publishing country	United States
Document type	Journal Article
ZDB-ID	2560162-3
ISSN	1949-2553 ; 1949-2553
ISSN (online)	1949-2553
ISSN	1949-2553
DOI	10.18632/oncotarget.8016
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