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Article: Editorial: Myopathology of inherited myopathies.

Fiorillo, Chiara / Malfatti, Edoardo / Meola, Giovanni

2022 Volume 13, Page(s) 1004562

Language	English
Publishing date	2022-08-17
Publishing country	Switzerland
Document type	Editorial
ZDB-ID	2564214-5
ISSN	1664-2295
ISSN	1664-2295
DOI	10.3389/fneur.2022.1004562
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Article ; Online: Caveolin-3 and Caveolin-1 Interaction Decreases Channel Dysfunction Due to Caveolin-3 Mutations.

Benzoni, Patrizia / Gazzerro, Elisabetta / Fiorillo, Chiara / Baratto, Serena / Bartolucci, Chiara / Severi, Stefano / Milanesi, Raffaella / Lippi, Melania / Langione, Marianna / Murano, Carmen / Meoni, Clarissa / Popolizio, Vera / Cospito, Alessandro / Baruscotti, Mirko / Bucchi, Annalisa / Barbuti, Andrea

International journal of molecular sciences

2024 Volume 25, Issue 2

Abstract: Caveolae constitute membrane microdomains where receptors and ion channels functionally interact. Caveolin-3 (cav-3) is the key structural component of muscular caveolae. Mutations ... ...

Abstract	Caveolae constitute membrane microdomains where receptors and ion channels functionally interact. Caveolin-3 (cav-3) is the key structural component of muscular caveolae. Mutations in
MeSH term(s)	Adult ; Animals ; Cricetinae ; Humans ; Caveolin 1/genetics ; Caveolin 3/genetics ; Cricetulus ; Mutation ; CHO Cells ; Ion Channels
Chemical Substances	Caveolin 1 ; Caveolin 3 ; Ion Channels
Language	English
Publishing date	2024-01-12
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms25020980
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Article ; Online: New phenotype caused by POMGNT2 mutations.

Cassone, Marco / Fiorillo, Chiara / Zara, Federico / Vitali, Carlo

BMJ case reports

2021 Volume 14, Issue 7

Abstract: We present a case report about a Moroccan 3-year-old girl, with an intermediate phenotype of muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 form. We performed clinical and instrumental evaluation, muscle biopsy, ...

Abstract	We present a case report about a Moroccan 3-year-old girl, with an intermediate phenotype of muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 form. We performed clinical and instrumental evaluation, muscle biopsy, genetic screening of 59 genes for different cerebral malformations, follow-up and review of literature. After investigations, we identified an intermediate new phenotype between the severe and mild form, characterised by significant malformations of the cortex with myopatic symptoms, this increases the genotype-phenotype correlation knowledge about POMGNT2 gene mutations. New homozygous missense mutation on POMGNT2 (c.511 G>A, p.Asp171Asn, rs768063378) was detected.
MeSH term(s)	Child, Preschool ; Female ; Genetic Association Studies ; Homozygote ; Humans ; Muscular Dystrophies ; Mutation ; Phenotype
Language	English
Publishing date	2021-07-22
Publishing country	England
Document type	Case Reports ; Journal Article
ISSN	1757-790X
ISSN (online)	1757-790X
DOI	10.1136/bcr-2021-242358
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Article: Comparative Analysis of the Response to Polyethylene Glycol-Simulated Drought Stress in Roots from Seedlings of "Modern" and "Ancient" Wheat Varieties.

Licaj, Ilva / Di Meo, Maria Chiara / Fiorillo, Anna / Samperna, Simone / Marra, Mauro / Rocco, Mariapina

Plants (Basel, Switzerland)

2023 Volume 12, Issue 3

Abstract: Durum wheat is widely cultivated in the Mediterranean, where it is the basis for the production of high added-value food derivatives such as pasta. In the next few years, the detrimental effects of global climate change will represent a serious challenge ...

Abstract	Durum wheat is widely cultivated in the Mediterranean, where it is the basis for the production of high added-value food derivatives such as pasta. In the next few years, the detrimental effects of global climate change will represent a serious challenge to crop yields. For durum wheat, the threat of climate change is worsened by the fact that cultivation relies on a few genetically uniform, elite varieties, better suited to intensive cultivation than "traditional" ones but less resistant to environmental stress. Hence, the renewed interest in "ancient" traditional varieties are expected to be more tolerant to environmental stress as a source of genetic resources to be exploited for the selection of useful agronomic traits such as drought tolerance. The aim of this study was to perform a comparative analysis of the effect and response of roots from the seedlings of two durum wheat cultivars: Svevo, a widely cultivated elite variety, and Saragolla, a traditional variety appreciated for its organoleptic characteristics, to Polyethylene glycol-simulated drought stress. The effect of water stress on root growth was analyzed and related to biochemical data such as hydrogen peroxide production, electrolyte leakage, membrane lipid peroxidation, proline synthesis, as well as to molecular data such as qRT-PCR analysis of drought responsive genes and proteomic analysis of changes in the protein repertoire of roots from the two cultivars.
Language	English
Publishing date	2023-01-17
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2704341-1
ISSN	2223-7747
ISSN	2223-7747
DOI	10.3390/plants12030428
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Article: An artificial intelligence-integrated analysis of the effect of drought stress on root traits of "modern" and "ancient" wheat varieties.

Licaj, Ilva / Felice, Domenico / Germinario, Chiara / Zanotti, Clarissa / Fiorillo, Anna / Marra, Mauro / Rocco, Mariapina

Frontiers in plant science

2023 Volume 14, Page(s) 1241281

Abstract: Due to drought stress, durum wheat production in the Mediterranean basin will be severely affected in the coming years. Durum wheat cultivation relies on a few genetically uniform "modern" varieties, more productive but less tolerant to stresses, and " ... ...

Abstract	Due to drought stress, durum wheat production in the Mediterranean basin will be severely affected in the coming years. Durum wheat cultivation relies on a few genetically uniform "modern" varieties, more productive but less tolerant to stresses, and "traditional" varieties, still representing a source of genetic biodiversity for drought tolerance. Root architecture plasticity is crucial for plant adaptation to drought stress and the relationship linking root structures to drought is complex and still largely under-explored. In this study, we examined the effect of drought stress on the roots' characteristics of the "traditional" Saragolla cultivar and the "modern" Svevo. By means of "SmartRoot" software, we demonstrated that drought stress affected primary and lateral roots as well as root hair at different extents in Saragolla and Svevo cultivars. Indeed, we observed that under drought stress Saragolla possibly revamped its root architecture, by significantly increasing the length of lateral roots, and the length/density of root hairs compared to the Svevo cultivar. Scanning Electron Microscopy analysis of root anatomical traits demonstrated that under drought stress a greater stele area and an increase of the xylem lumen size vessel occurred in Saragolla, indicating that the Saragolla variety had a more efficient adaptive response to osmotic stress than the Svevo. Furthermore, for the analysis of root structural data, Artificial Intelligence (AI) algorithms have been used: Their application allowed to predict from root structural traits modified by the osmotic stress the type of cultivar observed and to infer the relationship stress-cultivar type, thus demonstrating that root structural traits are clear and incontrovertible indicators of the higher tolerance to osmotic stress of the Saragolla cultivar. Finally, to obtain an integrated view of root morphogenesis, phytohormone levels were investigated. According to the phenotypic effects, under drought stress,a larger increase in IAA and ABA levels, as well as a more pronounced reduction in GA levels occurred in Saragolla as compared to Svevo. In conclusion, these results show that the root growth and hormonal profile of Saragolla are less affected by osmotic stress than those of Svevo, demonstrating the great potential of ancient varieties as reservoirs of genetic variability for improving crop responses to environmental stresses.
Language	English
Publishing date	2023-10-13
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2613694-6
ISSN	1664-462X
ISSN	1664-462X
DOI	10.3389/fpls.2023.1241281
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Article: Suicide Risk Screening and Assessment before and after the COVID-19 Pandemic in New Inmates.

Santoriello, Carmen / De Rosa, Carmela / Rufo, Chiara / Romano, Francesca / Termoli, Gaetana / Fiorillo, Giuseppina / Caprio, Ludovica / Vitolo, Monica / Pagano, Antonio Maria

Healthcare (Basel, Switzerland)

2024 Volume 12, Issue 1

Abstract: 1) Background: Suicide is the main cause of death in Italian prisons. The largest number of inmates who killed themselves was recorded during three years of the COVID-19 pandemic. This study aimed to explore psychosocial risk factors for suicide among ... ...

Abstract	(1) Background: Suicide is the main cause of death in Italian prisons. The largest number of inmates who killed themselves was recorded during three years of the COVID-19 pandemic. This study aimed to explore psychosocial risk factors for suicide among inmates incarcerated before and after the onset of COVID-19. (2) Methods: At prison reception, inmates underwent clinical interviews and were assessed using the Blaauw Scale and Suicide Assessment Scale. Psychological distress, measured by the Symptom Checklist-90-R, was compared between inmates admitted before and after COVID-19. Regression analyses were run to examine psychosocial vulnerabilities associated with suicidal intent in newly incarcerated individuals at risk of suicide. (3) Results: Among the 2098 newly admitted inmates (93.7% male) aged 18 to 87 years (M = 39.93; SD = 12.04), 1347 met the criteria for suicide risk, and 98 exhibited high suicidal intent. Inmates who entered prison after the onset of COVID-19 were older and had fewer social relationships. They had a higher prevalence of recidivism and substance abuse, along with elevated levels of psychological distress. An increase in perceived loss of control, anergia, obsessive-compulsive symptoms, phobic anxiety, and paranoid ideation emerged as the factors most strongly associated with high suicidal intent. (4) Conclusions: These findings support the value of psychosocial screening in promptly identifying inmates at risk of suicide, enabling the implementation of targeted, multi-professional interventions. Future research should replicate these results, with a focus on longitudinal studies that monitor the same inmates throughout their incarceration period.
Language	English
Publishing date	2024-01-02
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2721009-1
ISSN	2227-9032
ISSN	2227-9032
DOI	10.3390/healthcare12010100
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Article ; Online: Skeletal muscle involvement in biallelic

Massucco, Sara / Gemelli, Chiara / Bellone, Emilia / Geroldi, Alessandro / Patrone, Serena / Mandich, Paola / Scarsi, Elena / Faedo, Elena / Marinelli, Lucio / Mongini, Tiziana / Traverso, Monica / Baratto, Serena / Schenone, Angelo / Fiorillo, Chiara / Grandis, Marina

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

2023 Volume 42, Issue 4, Page(s) 113–117

Abstract: Biallelic mutations in the sorbitol dehydrogenase ( ...

Abstract	Biallelic mutations in the sorbitol dehydrogenase (
MeSH term(s)	Male ; Humans ; Adolescent ; L-Iditol 2-Dehydrogenase/genetics ; Charcot-Marie-Tooth Disease/genetics ; Muscle, Skeletal/pathology ; Mutation ; Phenotype ; Pedigree
Chemical Substances	L-Iditol 2-Dehydrogenase (EC 1.1.1.14)
Language	English
Publishing date	2023-12-20
Publishing country	Italy
Document type	Review ; Case Reports ; Journal Article
ZDB-ID	2102328-1
ISSN	2532-1900 ; 1128-2460
ISSN (online)	2532-1900
ISSN	1128-2460
DOI	10.36185/2532-1900-323
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Article ; Online: Suicide Risk Screening and Assessment before and after the COVID-19 Pandemic in New Inmates

Carmen Santoriello / Carmela De Rosa / Chiara Rufo / Francesca Romano / Gaetana Termoli / Giuseppina Fiorillo / Ludovica Caprio / Monica Vitolo / Antonio Maria Pagano

Healthcare, Vol 12, Iss 1, p

2024 Volume 100

Abstract	(1) Background: Suicide is the main cause of death in Italian prisons. The largest number of inmates who killed themselves was recorded during three years of the COVID-19 pandemic. This study aimed to explore psychosocial risk factors for suicide among inmates incarcerated before and after the onset of COVID-19. (2) Methods: At prison reception, inmates underwent clinical interviews and were assessed using the Blaauw Scale and Suicide Assessment Scale. Psychological distress, measured by the Symptom Checklist-90-R, was compared between inmates admitted before and after COVID-19. Regression analyses were run to examine psychosocial vulnerabilities associated with suicidal intent in newly incarcerated individuals at risk of suicide. (3) Results: Among the 2098 newly admitted inmates (93.7% male) aged 18 to 87 years (M = 39.93; SD = 12.04), 1347 met the criteria for suicide risk, and 98 exhibited high suicidal intent. Inmates who entered prison after the onset of COVID-19 were older and had fewer social relationships. They had a higher prevalence of recidivism and substance abuse, along with elevated levels of psychological distress. An increase in perceived loss of control, anergia, obsessive-compulsive symptoms, phobic anxiety, and paranoid ideation emerged as the factors most strongly associated with high suicidal intent. (4) Conclusions: These findings support the value of psychosocial screening in promptly identifying inmates at risk of suicide, enabling the implementation of targeted, multi-professional interventions. Future research should replicate these results, with a focus on longitudinal studies that monitor the same inmates throughout their incarceration period.
Keywords	suicide prevention ; prisoners ; health ; psychosocial distress ; suicidal behavior ; Medicine ; R
Subject code	360
Language	English
Publishing date	2024-01-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
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Article ; Online: DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.

Traverso, Monica / Baratto, Serena / Iacomino, Michele / Di Duca, Marco / Panicucci, Chiara / Casalini, Sara / Grandis, Marina / Falace, Antonio / Torella, Annalaura / Picillo, Esther / Onore, Maria Elena / Politano, Luisa / Nigro, Vincenzo / Innes, A Micheil / Barresi, Rita / Bruno, Claudio / Zara, Federico / Fiorillo, Chiara / Scala, Marcello

European journal of human genetics : EJHG

2024 Volume 32, Issue 3, Page(s) 342–349

Abstract: DAG1 encodes for dystroglycan, a key component of the dystrophin-glycoprotein complex (DGC) with a pivotal role in skeletal muscle function and maintenance. Biallelic loss-of-function DAG1 variants cause severe muscular dystrophy and muscle-eye-brain ... ...

Abstract	DAG1 encodes for dystroglycan, a key component of the dystrophin-glycoprotein complex (DGC) with a pivotal role in skeletal muscle function and maintenance. Biallelic loss-of-function DAG1 variants cause severe muscular dystrophy and muscle-eye-brain disease. A possible contribution of DAG1 deficiency to milder muscular phenotypes has been suggested. We investigated the genetic background of twelve subjects with persistent mild-to-severe hyperCKemia to dissect the role of DAG1 in this condition. Genetic testing was performed through exome sequencing (ES) or custom NGS panels including various genes involved in a spectrum of muscular disorders. Histopathological and Western blot analyses were performed on muscle biopsy samples obtained from three patients. We identified seven novel heterozygous truncating variants in DAG1 segregating with isolated or pauci-symptomatic hyperCKemia in all families. The variants were rare and predicted to lead to nonsense-mediated mRNA decay or the formation of a truncated transcript. In four cases, DAG1 variants were inherited from similarly affected parents. Histopathological analysis revealed a decreased expression of dystroglycan subunits and Western blot confirmed a significantly reduced expression of beta-dystroglycan in muscle samples. This study supports the pathogenic role of DAG1 haploinsufficiency in isolated or pauci-symptomatic hyperCKemia, with implications for clinical management and genetic counseling.
MeSH term(s)	Humans ; Dystroglycans/genetics ; Dystroglycans/metabolism ; Haploinsufficiency ; Muscular Dystrophies/genetics ; Muscle, Skeletal/pathology ; Muscular Diseases/pathology
Chemical Substances	Dystroglycans (146888-27-9) ; DAG1 protein, human
Language	English
Publishing date	2024-01-04
Publishing country	England
Document type	Journal Article
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-023-01516-4
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Article: Case report: Episodic ataxia without ataxia?

Gaudio, Andrea / Gotta, Fabio / Ponti, Clarissa / Sanguineri, Francesca / Trevisan, Lucia / Geroldi, Alessandro / Patrone, Serena / Gemelli, Chiara / Cabona, Corrado / Astrea, Guja / Fiorillo, Chiara / Gustincich, Stefano / Grandis, Marina / Mandich, Paola

Frontiers in neurology

2023 Volume 14, Page(s) 1224241

Abstract: Hereditary myopathies represent a clinically and genetically heterogeneous group of neuromuscular disorders, characterized by highly variable clinical presentations and frequently overlapping phenotypes with other neuromuscular disorders, likely ... ...

Abstract	Hereditary myopathies represent a clinically and genetically heterogeneous group of neuromuscular disorders, characterized by highly variable clinical presentations and frequently overlapping phenotypes with other neuromuscular disorders, likely influenced by genetic and environmental modifiers. Genetic testing is often challenging due to ambiguous clinical diagnosis. Here, we present the case of a family with clinical and Electromyography (EMG) features resembling a myotonia-like disorder in which Whole Exome Sequencing (WES) analysis revealed the co-segregation of two rare missense variants in
Language	English
Publishing date	2023-10-26
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2564214-5
ISSN	1664-2295
ISSN	1664-2295
DOI	10.3389/fneur.2023.1224241
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