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Article ; Online: Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum.

Selicorni, Angelo / Mariani, Milena / Lettieri, Antonella / Massa, Valentina

2021 Volume 12, Issue 7

Abstract: Cornelia de Lange syndrome (CdLS) is a genetic disease that exemplifies the evolution of knowledge in the field of rare genetic disorders. Originally described as a unique pattern of major and minor anomalies, over time this syndrome has been shown to be ...

Abstract	Cornelia de Lange syndrome (CdLS) is a genetic disease that exemplifies the evolution of knowledge in the field of rare genetic disorders. Originally described as a unique pattern of major and minor anomalies, over time this syndrome has been shown to be characterized by a significant variability of clinical expression. By increasing the number of patients described, knowledge of the natural history of the condition has been enriched with the demonstration of the relative frequency of various potential comorbidities. Since 2006, the discovery of CdLS's molecular basis has shown an equally vast genetic heterogeneity linked to the presence of variants in genes encoding for the cohesin complex pathway. The most recent clinical-genetic data led to the classification of the "original syndrome" into a "clinical spectrum" that foresees the presence of classic patients, of non-classic forms, and of conditions that show a modest phenotypic overlapping with the original disease. Finally, the knowledge of the molecular basis of the disease has allowed the development of basic research projects that could lay the foundations for the development of possible innovative pharmacological treatments.
MeSH term(s)	Cell Cycle Proteins/genetics ; Chromosomal Proteins, Non-Histone/genetics ; De Lange Syndrome/epidemiology ; De Lange Syndrome/genetics ; De Lange Syndrome/physiopathology ; Genetic Association Studies/methods ; Genotype ; Humans ; Mutation ; Phenotype ; Wnt Signaling Pathway/genetics ; Wnt Signaling Pathway/physiology ; Cohesins
Chemical Substances	Cell Cycle Proteins ; Chromosomal Proteins, Non-Histone
Language	English
Publishing date	2021-07-15
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes12071075
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Editorial: Impact on Embryonic Development of Chromatin Remodeling Alterations.

Gervasini, Cristina / Garcia-Dominguez, Mario / Massa, Valentina

Frontiers in cell and developmental biology

2021 Volume 9, Page(s) 744665

Language	English
Publishing date	2021-08-12
Publishing country	Switzerland
Document type	Editorial
ZDB-ID	2737824-X
ISSN	2296-634X
ISSN	2296-634X
DOI	10.3389/fcell.2021.744665
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Article ; Online: Meconium-stained amniotic fluid and histologic signs of fetal distress in stillbirths.

Avagliano, Laura / Massa, Valentina / Bulfamante, Gaetano

European journal of obstetrics, gynecology, and reproductive biology

2021 Volume 266, Page(s) 55–62

Abstract: Objective: Stillbirth is one of the most devastating adverse pregnancy outcome, but it is often associated with a missing post-mortem histological examination. We aimed at evaluating whether the staining of amniotic fluid reflects the fetal conditions ... ...

Abstract	Objective: Stillbirth is one of the most devastating adverse pregnancy outcome, but it is often associated with a missing post-mortem histological examination. We aimed at evaluating whether the staining of amniotic fluid reflects the fetal conditions surrounding the death and if it correlates with any histologic sign of fetal distress. Study design: Terminal gasping (represented by the massive presence of intra-alveolar squamous cells), thymic and adrenal cortex modifications were evaluated as histologic signs of fetal distress in stillbirths, and stratified according to the degree of staining of the amniotic fluid. Results: The presence of meconium-stained amniotic fluid did not correlate with the presence of gasping and/or thymic and/or adrenal cortex changes. Clear amniotic fluid was not associated with the absence of histologic signs of distress. Conclusions: The evaluation of the staining of the amniotic fluid fails to identify distressed fetuses. A histologic evaluation of fetal organs provides detailed information, irrespective of the presence/absence of meconium-stained amniotic fluid.
MeSH term(s)	Amniotic Fluid ; Female ; Fetal Distress/diagnosis ; Humans ; Infant, Newborn ; Meconium ; Meconium Aspiration Syndrome ; Pregnancy ; Stillbirth
Language	English
Publishing date	2021-09-16
Publishing country	Ireland
Document type	Journal Article
ZDB-ID	190605-7
ISSN	1872-7654 ; 0301-2115 ; 0028-2243
ISSN (online)	1872-7654
ISSN	0301-2115 ; 0028-2243
DOI	10.1016/j.ejogrb.2021.09.016
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Article ; Online: The Differential Roles for Neurodevelopmental and Neuroendocrine Genes in Shaping GnRH Neuron Physiology and Deficiency.

Oleari, Roberto / Massa, Valentina / Cariboni, Anna / Lettieri, Antonella

International journal of molecular sciences

2021 Volume 22, Issue 17

Abstract: Gonadotropin releasing hormone (GnRH) neurons are hypothalamic neuroendocrine cells that control sexual reproduction. During embryonic development, GnRH neurons migrate from the nose to the hypothalamus, where they receive inputs from several afferent ... ...

Abstract	Gonadotropin releasing hormone (GnRH) neurons are hypothalamic neuroendocrine cells that control sexual reproduction. During embryonic development, GnRH neurons migrate from the nose to the hypothalamus, where they receive inputs from several afferent neurons, following the axonal scaffold patterned by nasal nerves. Each step of GnRH neuron development depends on the orchestrated action of several molecules exerting specific biological functions. Mutations in genes encoding for these essential molecules may cause Congenital Hypogonadotropic Hypogonadism (CHH), a rare disorder characterized by GnRH deficiency, delayed puberty and infertility. Depending on their action in the GnRH neuronal system, CHH causative genes can be divided into neurodevelopmental and neuroendocrine genes. The CHH genetic complexity, combined with multiple inheritance patterns, results in an extreme phenotypic variability of CHH patients. In this review, we aim at providing a comprehensive and updated description of the genes thus far associated with CHH, by dissecting their biological relevance in the GnRH system and their functional relevance underlying CHH pathogenesis.
MeSH term(s)	Animals ; Gonadotropin-Releasing Hormone/deficiency ; Gonadotropin-Releasing Hormone/genetics ; Humans ; Hypogonadism/etiology ; Hypogonadism/pathology ; Mutation ; Nerve Tissue Proteins/genetics ; Nerve Tissue Proteins/metabolism ; Neurodevelopmental Disorders/genetics ; Neuroendocrine Cells/metabolism ; Neuroendocrine Cells/pathology ; Neurons/physiology
Chemical Substances	Nerve Tissue Proteins ; Gonadotropin-Releasing Hormone (33515-09-2)
Language	English
Publishing date	2021-08-30
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms22179425
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Article: Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum

Selicorni, Angelo / Mariani, Milena / Lettieri, Antonella / Massa, Valentina

Genes. 2021 July 15, v. 12, no. 7

2021

Abstract	Cornelia de Lange syndrome (CdLS) is a genetic disease that exemplifies the evolution of knowledge in the field of rare genetic disorders. Originally described as a unique pattern of major and minor anomalies, over time this syndrome has been shown to be characterized by a significant variability of clinical expression. By increasing the number of patients described, knowledge of the natural history of the condition has been enriched with the demonstration of the relative frequency of various potential comorbidities. Since 2006, the discovery of CdLS’s molecular basis has shown an equally vast genetic heterogeneity linked to the presence of variants in genes encoding for the cohesin complex pathway. The most recent clinical-genetic data led to the classification of the “original syndrome” into a “clinical spectrum” that foresees the presence of classic patients, of non-classic forms, and of conditions that show a modest phenotypic overlapping with the original disease. Finally, the knowledge of the molecular basis of the disease has allowed the development of basic research projects that could lay the foundations for the development of possible innovative pharmacological treatments.
Keywords	genetic disorders ; genetic heterogeneity ; natural history ; phenotype
Language	English
Dates of publication	2021-0715
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes12071075
Database	NAL-Catalogue (AGRICOLA)

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Article: Testing Saliva to Reveal the Submerged Cases of the COVID-19 Iceberg.

Borghi, Elisa / Massa, Valentina / Zuccotti, Gianvincenzo / Wyllie, Anne L

Frontiers in microbiology

2021 Volume 12, Page(s) 721635

Language	English
Publishing date	2021-07-12
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2587354-4
ISSN	1664-302X
ISSN	1664-302X
DOI	10.3389/fmicb.2021.721635
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Article ; Online: Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss.

Chiereghin, Chiara / Robusto, Michela / Massa, Valentina / Castorina, Pierangela / Ambrosetti, Umberto / Asselta, Rosanna / Soldà, Giulia

Cells

2022 Volume 11, Issue 11

Abstract: Hearing relies on the proper functioning of auditory hair cells and on actin-based cytoskeletal structures. Diaphanous-related formins (DRFs) are evolutionarily conserved cytoskeletal proteins that regulate the nucleation of linear unbranched actin ... ...

Abstract	Hearing relies on the proper functioning of auditory hair cells and on actin-based cytoskeletal structures. Diaphanous-related formins (DRFs) are evolutionarily conserved cytoskeletal proteins that regulate the nucleation of linear unbranched actin filaments. They play key roles during metazoan development, and they seem particularly pivotal for the correct physiology of the reproductive and auditory systems. Indeed, in
MeSH term(s)	Adaptor Proteins, Signal Transducing/metabolism ; Animals ; Deafness/genetics ; Drosophila Proteins/metabolism ; Drosophila melanogaster/metabolism ; Formins ; Hearing Loss/genetics
Chemical Substances	Adaptor Proteins, Signal Transducing ; Drosophila Proteins ; Formins ; diaphanous protein, Drosophila
Language	English
Publishing date	2022-05-24
Publishing country	Switzerland
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	2661518-6
ISSN	2073-4409 ; 2073-4409
ISSN (online)	2073-4409
ISSN	2073-4409
DOI	10.3390/cells11111726
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Article ; Online: Long-term effects of SARS-CoV-2 infection in hospitalized children: findings from an Italian single-center study.

Calcaterra, Valeria / Tagi, Veronica Maria / D'Auria, Enza / Lai, Alessia / Zanelli, Sara / Montanari, Chiara / Biganzoli, Elia Maria / Marano, Giuseppe / Borghi, Elisa / Massa, Valentina / Riva, Agostino / Zuccotti, Gianvincenzo

Italian journal of pediatrics

2024 Volume 50, Issue 1, Page(s) 27

Abstract: Background: Limited evidence exists regarding the association between COVID-19 and Long COVID manifestations in children, particularly concerning variants of concern (VOCs). We aimed to characterize a cohort of pediatric patients hospitalized with ... ...

Abstract	Background: Limited evidence exists regarding the association between COVID-19 and Long COVID manifestations in children, particularly concerning variants of concern (VOCs). We aimed to characterize a cohort of pediatric patients hospitalized with confirmed acute SARS-CoV-2 and monitor them for Long COVID symptoms. Additionally, it seeks to explore any potential correlations between VOCs and clinical symptoms. Methods: We conducted a prospective study involving children hospitalized from November 2021 to March 2023, with confirmed acute SARS-CoV-2 infection. A telephone survey was conducted at 3-6-12 months after discharge. Results: We included 167 patients (77 F/90 M). Upon hospital admission, 95.5% of patients presented as symptomatic. Regarding patients for whom it was feasible to determine the SARS-CoV-2 variant (n = 51), the Delta variant was identified in 11 children (21.6%) and Omicron variant in the remaining 40 patients (78.4%: 27.5% BA.1 variant; 15% BA.2 variant; 57.5% BA.5 variant). 19 patients (16.5%) reported experiencing at least one symptom indicative of Long COVID (weight loss 31.6%, inappetence 26.3%, chronic cough 21.1%, fatigue 21.1%, and sleep disturbances, wheezing, abdominal pain and mood disorders 15.8%). In only 4 patients with Long COVID we could identified a specific SARS-CoV-2 variant (3 Omicron: 2 BA.1 and 1 BA.2; 1 Delta). Conclusions: this study underscores that long COVID is a significant concern in the pediatric population. Our data reinforce the importance of continuously monitoring the impact of long-COVID in infants, children, and adolescents. A follow-up following SARS-CoV-2 infection is therefore advisable, with symptom investigation tailored to the patient's age.
MeSH term(s)	Adolescent ; Infant ; Humans ; Child ; Child, Hospitalized ; SARS-CoV-2 ; COVID-19/epidemiology ; Post-Acute COVID-19 Syndrome ; Prospective Studies ; Italy/epidemiology
Language	English
Publishing date	2024-02-14
Publishing country	England
Document type	Journal Article
ZDB-ID	2088556-8
ISSN	1824-7288 ; 1720-8424
ISSN (online)	1824-7288
ISSN	1720-8424
DOI	10.1186/s13052-024-01596-y
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Article ; Online: SMC1A epilepsy syndrome: clinical data from a large international cohort.

Gibellato, Elisabetta / Cianci, Paola / Mariani, Milena / Parma, Barbara / Huisman, Sylvia / Śmigiel, Robert / Bisgaard, Anne-Marie / Massa, Valentina / Gervasini, Cristina / Moretti, Alex / Cattoni, Alessandro / Biondi, Andrea / Selicorni, Angelo

American journal of medical genetics. Part A

2024 , Page(s) e63577

Abstract: SMC1A epilepsy syndrome or developmental and epileptic encephalopathy-85 with or without midline brain defects (DEE85, OMIM #301044) is an X-linked neurologic disorder associated with mutations of the SMC1A gene, which is also responsible for about 5% of ...

Abstract	SMC1A epilepsy syndrome or developmental and epileptic encephalopathy-85 with or without midline brain defects (DEE85, OMIM #301044) is an X-linked neurologic disorder associated with mutations of the SMC1A gene, which is also responsible for about 5% of patients affected by Cornelia de Lange syndrome spectrum (CdLS). Only described in female patients, SMC1A epilepsy syndrome is characterized by the onset of severe refractory epileptic seizures in the first year of life, global developmental delay, a variable degree of intellectual disability, and dysmorphic facial features not typical of CdLS. This was a descriptive observational study for the largest international cohort with this specific disorder. The main goal of this study was to improve the knowledge of the natural history of this phenotype with particular attention to the psychomotor development and the epilepsy data. The analyzed cohort shows normal prenatal growth with the subsequent development of postnatal microcephaly. The incidence of neonatal problems (seizures and respiratory compromise) is considerable (51.4%). There is a significant prevalence of central nervous system (20%) and cardiovascular malformations (20%). Motor skills are generally delayed. The presence of drug-resistant epilepsy is confirmed; the therapeutic role of a ketogenic diet is still uncertain. The significant regression of previously acquired skills following the onset of seizures has been observed. Facial dysmorphisms are variable and no patient shows a classic CdLS phenotype. To sum up, SMC1A variants caused drug-resistant epilepsy in these patients, more than two-thirds of whom were shown to progress to developmental and epileptic encephalopathy. The SMC1A gene variants are all different from each other (apart from a couple of monozygotic twins), demonstrating the absence of a mutational hotspot in the SMC1A gene. Owing to the absence of phenotypic specificity, whole-exome sequencing is currently the diagnostic gold standard.
Language	English
Publishing date	2024-02-29
Publishing country	United States
Document type	Journal Article
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63577
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Article ; Online: Genetic interaction of Pax3 mutation and canonical Wnt signaling modulates neural tube defects and neural crest abnormalities.

Palmer, Alexandra J / Savery, Dawn / Massa, Valentina / Copp, Andrew J / Greene, Nicholas D E

Genesis (New York, N.Y. : 2000)

2021 Volume 59, Issue 11, Page(s) e23445

Abstract: Mouse models provide opportunities to investigate genetic interactions that cause or modify the frequency of neural tube defects (NTDs). Mutation of the PAX3 transcription factor prevents neural tube closure, leading to cranial and spinal NTDs whose ... ...

Abstract	Mouse models provide opportunities to investigate genetic interactions that cause or modify the frequency of neural tube defects (NTDs). Mutation of the PAX3 transcription factor prevents neural tube closure, leading to cranial and spinal NTDs whose frequency is responsive to folate status. Canonical Wnt signalling is implicated both in regulation of Pax3 expression and as a target of PAX3. This study investigated potential interactions of Pax3 mutation and canonical Wnt signalling using conditional gain- and loss-of-function models of β-catenin. We found an additive effect of β-catenin gain of function and Pax3 loss of function on NTDs and neural crest defects. β-catenin gain of function in the Pax3 expression domain led to significantly increased frequency of cranial but not spinal NTDs in embryos that are heterozygous for Pax3 mutation, while both cranial and spinal neural tube closure were exacerbated in Pax3 homozygotes. Similarly, deficits of migrating neural crest cells were exacerbated by β-catenin gain of function, with almost complete ablation of spinal neural crest cells and derivatives in Pax3 homozygous mutants. Pax3 expression was not affected by β-catenin gain of function, while we confirmed that loss of function led to reduced Pax3 transcription. In contrast to gain of function, β-catenin knockout in the Pax3 expression domain lowered the frequency of cranial NTDs in Pax3 null embryos. However, loss of function of β-catenin and Pax3 resulted in spinal NTDs, suggesting differential regulation of cranial and spinal neural tube closure. In summary, β-catenin function modulates the frequency of PAX3-related NTDs in the mouse.
MeSH term(s)	Animals ; Heterozygote ; Mice ; Mice, Inbred C57BL ; Mutation ; Neural Crest/abnormalities ; Neural Crest/embryology ; Neural Crest/metabolism ; Neural Tube Defects/genetics ; PAX3 Transcription Factor/genetics ; PAX3 Transcription Factor/metabolism ; Wnt Signaling Pathway ; beta Catenin/genetics ; beta Catenin/metabolism
Chemical Substances	PAX3 Transcription Factor ; beta Catenin ; Pax3 protein, mouse (138016-91-8)
Language	English
Publishing date	2021-09-07
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2004544-X
ISSN	1526-968X ; 1526-954X
ISSN (online)	1526-968X
ISSN	1526-954X
DOI	10.1002/dvg.23445
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