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Article ; Online: Body weight changes and bipolar disorder: a molecular pathway analysis.

Calabró, Marco / Briuglia, Silvana / Crisafulli, Concetta / Drago, Antonio

2022 Volume 32, Issue 9, Page(s) 308–320

Abstract: Background: There is evidence suggesting a link between weight-related disorders and bipolar disorder (BD). The pathophysiology of the association includes psychological, social and psychotropic treatment-related variables, together with psychiatric ... ...

Abstract	Background: There is evidence suggesting a link between weight-related disorders and bipolar disorder (BD). The pathophysiology of the association includes psychological, social and psychotropic treatment-related variables, together with psychiatric comorbidity. Weight changes during BD may influence compliance to the treatment, quality of life and prognosis, and can modulate risk of death associated with, for example, diabetes or cardiovascular disorders. Methods: The STEP-BD sample is analyzed through a hypothesis-free molecular pathway analysis in order to detect the molecular pathways that distinguish individuals who experience weight change during BD treatment from those who do not. A total of 618 individuals were available for the analysis, mean age = 41.19 ± 12.58, females = 351 (56.8%). Socioeconomic variables and treatment-related variables were included as clinical covariates. A cluster analysis in the genetic dataset provided the genetic covariate input to the study to avoid stratification factors. Result: After applying the quality analysis that is typical for this kind of investigation, no Genome Wide Association Study significant finding was retrieved. Six molecular pathways were found to be significantly associated with weight change during the first 3 months of treatment after correction for multiple testing. Of those, CDC42 (R-HSA-9013148) participates in insulin synthesis and secretion and contributes to the pathogenesis of insulin resistance and Rac Family Small GTPase 1 (R-HSA-9013149) is involved in metabolic regulation of pancreatic islet β-cells and in diabetes pathophysiology. Discussion: Pathways that are central in energy homeostasis may play a role to separate individuals with BD that will experience weight changes during treatment from those who will not. If confirmed, such finding can be instrumental in the identification of the correct preventive strategies and most correct treatment to increase compliance and efficacy in the treatment of BD.
MeSH term(s)	Female ; Humans ; Adult ; Middle Aged ; Bipolar Disorder/drug therapy ; Bipolar Disorder/genetics ; Quality of Life ; Genome-Wide Association Study ; Psychotropic Drugs/therapeutic use ; Body Weight
Chemical Substances	Psychotropic Drugs
Language	English
Publishing date	2022-10-26
Publishing country	United States
Document type	Journal Article
ZDB-ID	2175826-8
ISSN	1744-6880 ; 0960-314X ; 1744-6872
ISSN (online)	1744-6880
ISSN	0960-314X ; 1744-6872
DOI	10.1097/FPC.0000000000000484
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Article: Autoimmune hepatitis in genetic syndromes: A literature review.

Capra, Anna Paola / Chiara, Emanuele / Briuglia, Silvana

World journal of hepatology

2021 Volume 13, Issue 10, Page(s) 1328–1340

Abstract: Genetic syndromes represent relevant and rare diseases. These conditions include a large amount of epidemiological, pathogenetic and clinical features. However, a systematic approach to genetic syndromes is often prevented by the rareness of these ... ...

Abstract	Genetic syndromes represent relevant and rare diseases. These conditions include a large amount of epidemiological, pathogenetic and clinical features. However, a systematic approach to genetic syndromes is often prevented by the rareness of these diseases. So, although clinical features are usually precisely defined, nowadays more uncommon associations between genetic syndromes and internal medicine related diseases have been insufficiently studied. Autoimmune hepatitis (AIH) is a chronic liver disease caused by loss of tolerance to hepatocyte-specific auto-antigens. Conversely, a better knowledge about specific genetic syndromes in which AIH is more frequent could be important in the clinical management of patients, both for an early diagnosis and for a prompt therapy. Furthermore, a systematic approach could explain if onset, clinical course, and response to treatment of AIH are typical for specific genetic syndromes. We took in consideration all the scientific articles reported in PubMed in the last 10 years, from 2010 to 2020. The purpose of this review is to explore the prevalence of AIH in genetic syndrome, but also to suggest new classification, that could be useful for pathogenetic hypothesis and clinical approach to genetic syndrome. From the 139 publications selected using keywords "autoimmune hepatitis" and "genetic syndrome", 30 papers (21.6%) respected the chosen inclusion criteria, reporting the association between AIH in patients with a genetic syndrome. We have collected in all 47 patients with AIH and genetic syndrome, and with median age of 12.6-year-old. We suggest that when a patient presents a clinical picture of cryptogenic chronic hepatitis, that is unexplained, it is useful to explore differential diagnosis of AIH associated with genetic syndrome. Given the clinical relevance of this topic, further reports are needed to demonstrate our hypothesis and collect new evidence in this field.
Language	English
Publishing date	2021-10-15
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2573703-X
ISSN	1948-5182
ISSN	1948-5182
DOI	10.4254/wjh.v13.i10.1328
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Bidirectional Ventricular Tachycardia and Prominent U Waves: Look at Fingers and Muscles and Use Flecainide.

Oreto, Lilia / Briuglia, Silvana / Capra, Anna Paola / Ruiz, Victoria Garcia / Di Pino, Alfredo

The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG

2023 Volume 28, Issue 7, Page(s) 662–666

Abstract: We present a case of bidirectional ventricular tachycardia in a 15-year-old boy asymptomatic for arrhythmias, whose major complaint was muscle weakness. At our first evaluation he was receiving sotalol for his ventricular arrhythmias. In addition to ... ...

Abstract	We present a case of bidirectional ventricular tachycardia in a 15-year-old boy asymptomatic for arrhythmias, whose major complaint was muscle weakness. At our first evaluation he was receiving sotalol for his ventricular arrhythmias. In addition to bidirectional tachycardia, electrocardiogram during sinus rhythm showed prominent U waves and prolonged QT-U interval. These electrocardiographic signs, along with the evidence of clinodactyly and mild hypertelorism, led us to the diagnosis of Andersen-Tawil syndrome, confirmed by genetic analysis that revealed a "
Language	English
Publishing date	2023-11-23
Publishing country	United States
Document type	Journal Article
ZDB-ID	3028543-4
ISSN	1551-6776
ISSN	1551-6776
DOI	10.5863/1551-6776-28.7.662
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Neurofibromatosis: New Clinical Challenges in the Era of COVID-19.

Ardizzone, Alessio / Capra, Anna Paola / Campolo, Michela / Filippone, Alessia / Esposito, Emanuela / Briuglia, Silvana

Biomedicines

2022 Volume 10, Issue 5

Abstract: Rare diseases constitute a wide range of disorders thus defined for their low prevalence. However, taken together, rare diseases impact a considerable percentage of the world population, thus representing a public healthcare problem. In particular, ... ...

Abstract	Rare diseases constitute a wide range of disorders thus defined for their low prevalence. However, taken together, rare diseases impact a considerable percentage of the world population, thus representing a public healthcare problem. In particular, neurofibromatoses are autosomal-dominant genetic disorders that include type 1 neurofibromatosis (NF1), type 2 neurofibromatosis (NF2) and schwannomatosis. Each of the three types is a genetically distinct disease with an unpredictable clinical course and for which there is still no resolutive cure. Therefore, a personalized therapeutic approach directed at improving the symptomatology as well as the search for new pharmacological strategies for the management of neurofibromatosis represents a priority for positive outcomes for affected patients. The coronavirus disease 2019 (COVID-19) pandemic has severely affected health systems around the world, impacting the provision of medical care and modifying clinical surveillance along with scientific research procedures. COVID-19 significantly worsened exchanges between healthcare personnel and neurofibromatosis patients, precluding continuous clinical monitoring in specialized clinic centers. In this new scenario, our article presents, for the first time, a comprehensive literature review on the clinical challenges for neurofibromatosis clinical care and research during the COVID-19 pandemic health emergency. The review was performed through PubMed (Medline) and Google Scholar databases until December 2021.
Language	English
Publishing date	2022-04-19
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2720867-9
ISSN	2227-9059
ISSN	2227-9059
DOI	10.3390/biomedicines10050940
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Article ; Online: Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis.

Capra, Anna Paola / La Rosa, Maria Angela / Briguori, Sara / Civa, Rosa / Passarelli, Chiara / Agolini, Emanuele / Novelli, Antonio / Briuglia, Silvana

Genes

2023 Volume 14, Issue 2

Abstract: Technological advancements in molecular genetics and cytogenetics have led to the diagnostic definition of complex or atypical clinical pictures. In this paper, a genetic analysis identifies multimorbidities, one due to either a copy number variant or a ... ...

Abstract	Technological advancements in molecular genetics and cytogenetics have led to the diagnostic definition of complex or atypical clinical pictures. In this paper, a genetic analysis identifies multimorbidities, one due to either a copy number variant or a chromosome aneuploidy, and a second due to biallelic sequence variants in a gene associated with an autosomal recessive disorder. We diagnosed the simultaneous presence of these conditions, which co-occurred by chance, in three unrelated patients: a 10q11.22q11.23 microduplication and a homozygous variant, c.3470A>G (p.Tyr1157Cys), in the
MeSH term(s)	Humans ; Diagnosis, Dual (Psychiatry) ; Stargardt Disease ; Muscular Dystrophies/genetics ; Homozygote ; Substance-Related Disorders ; ATP-Binding Cassette Transporters/genetics
Chemical Substances	ABCA4 protein, human ; ATP-Binding Cassette Transporters
Language	English
Publishing date	2023-02-14
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14020484
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Article ; Online: A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review.

Moschella, Antonino / Capra, Anna Paola / Corica, Domenico / Pepe, Giorgia / Di Tommaso, Silvia / Sallicandro, Ester / Wasniewska, Malgorzata G / Briuglia, Silvana / Aversa, Tommaso

BMC medical genomics

2023 Volume 16, Issue 1, Page(s) 315

Abstract: Background: Distal chromosome 16 duplication syndrome (also known as 16q partial trisomy) is a very rare genetic disorder recently described in few clinical reports. 16q trisomy is generally associated with a multisystemic phenotype including ... ...

Abstract	Background: Distal chromosome 16 duplication syndrome (also known as 16q partial trisomy) is a very rare genetic disorder recently described in few clinical reports. 16q trisomy is generally associated with a multisystemic phenotype including intrauterine growth restriction (IUGR), brain and cardiac defects, intellectual disability (ID) and an increased risk of both prenatal and postnatal lethality. Smaller copy number variants (CNV) within the 16q region create partial trisomies, which occur less frequently than full trisomy 16q. Case presentation: We present the clinical case of a 12-years-old male with a 16q22.3q24.1 de novo heterozygous duplication whose phenotype was characterized by ID, facial dysmorphisms, stature and weight overgrowth. To date, only five other cases of this syndrome have been reported in scientific literature, and none of them comprised overgrowth. Conclusions: Our case report highlights the great heterogeneity in clinical manifestations and provides new evidence for better defining the phenotypic picture for smaller 16q distal CNVs, suggesting unusual features.
MeSH term(s)	Pregnancy ; Female ; Humans ; Male ; Child ; Trisomy/genetics ; Intellectual Disability/genetics ; Fetal Growth Retardation ; Chromosomes, Human, Pair 16/genetics ; Brain
Language	English
Publishing date	2023-12-04
Publishing country	England
Document type	Review ; Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2411865-5
ISSN	1755-8794 ; 1755-8794
ISSN (online)	1755-8794
ISSN	1755-8794
DOI	10.1186/s12920-023-01716-3
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Article: H1299R Variant in Factor V and Recurrent Pregnancy Loss: A Systematic Review and Meta-Analysis Protocol

Ardizzone, Alessio / Capra, Anna Paola / Mondello, Stefania / Briuglia, Silvana / La Rosa, Maria Angela / Campolo, Michela / Esposito, Emanuela

Genes. 2022 June 06, v. 13, no. 6

2022

Abstract: Recurrent pregnancy loss (RPL) is defined as the loss of two or more pregnancies, affecting approximately 1 to 3% of women worldwide. Scientific data highlight a possible correlation between thrombophilic genetic variants and RPL. H1299R variant in the ... ...

Abstract	Recurrent pregnancy loss (RPL) is defined as the loss of two or more pregnancies, affecting approximately 1 to 3% of women worldwide. Scientific data highlight a possible correlation between thrombophilic genetic variants and RPL. H1299R variant in the factor V gene would lead to an increased thrombotic risk associated with frequent miscarriages. However, the data are often conflicting, making this an interesting question for further investigations by evaluating genotype-phenotype correlations to improve the clinical management and genetic counseling of couples. A systematic review and meta-analysis will follow the preferred reporting elements for systematic review and meta-analysis protocols (PRISMA-P). The Pubmed (MEDLINE) and Embase (OVID) databases will be explored to identify suitable articles based on inclusion and exclusion criteria. Inclusion criteria are: (a) H1299R genotyping with clear data reported, referred to as Heterozygous (Het) and/or Homozygous (Hom); (b) articles written in English; (c) analyses of only RPL female patients having at least two or more previous pregnancy losses and compared with a control group. This analysis will present selected scientific evidence, addressing the questions concerning the association between the H1299R variant and RPL, hoping to clarify this still unresolved issue. PROSPERO registration number: CRD42022330077.
Keywords	females ; genes ; genotype-phenotype correlation ; genotyping ; heterozygosity ; homozygosity ; meta-analysis ; pregnancy ; protocols ; risk ; systematic review
Language	English
Dates of publication	2022-0606
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes13061019
Database	NAL-Catalogue (AGRICOLA)

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Article: Suicide Related Phenotypes in a Bipolar Sample: Genetic Underpinnings

Lybech, Line K. M. / Calabró, Marco / Briuglia, Silvana / Drago, Antonio / Crisafulli, Concetta

Genes. 2021 Sept. 23, v. 12, no. 10

2021

Abstract: Suicide in Bipolar Disorder (BD) is a relevant clinical concern. Genetics may shape the individual risk for suicide behavior in BD, together with known clinical factors. The lack of consistent replication in BD may be associated with its multigenetic ... ...

Abstract	Suicide in Bipolar Disorder (BD) is a relevant clinical concern. Genetics may shape the individual risk for suicide behavior in BD, together with known clinical factors. The lack of consistent replication in BD may be associated with its multigenetic component. In the present contribution we analyzed a sample of BD individuals (from STEP-BD database) to identify the genetic variants potentially associated with three different suicide-related phenotypes: (1) a feeling that the life was not worth living; (2) fantasies about committing a violent suicide; (3) previous attempted suicide. The sample under analysis included 1115 BD individuals. None of the SNPs reached genome-wide significance. However, a trend of association was evidenced for rs2767403, an intron variant of AOPEP gene, in association with phenotype #1 (p = 5.977 × 10⁻⁶). The molecular pathway analysis showed a significant enrichment in all the investigated phenotypes on pathways related to post synaptic signaling, neurotransmission and neurodevelopment. Further, NOTCH signaling or the γ-aminobutyric acid (GABA)-ergic signaling were found to be associated with specific suicide-related phenotypes. The present investigation contributes to the hypothesis that the genetic architecture of suicide behaviors in BD is related to alteration of entire pathways rather than single genes. In particular, our molecular pathway analysis points on some specific molecular events that could be the focus of further research in this field.
Keywords	bipolar disorder ; databases ; introns ; neurodevelopment ; phenotype ; risk ; suicide ; synaptic transmission
Language	English
Dates of publication	2021-0923
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes12101482
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis

Capra, Anna Paola / La Rosa, Maria Angela / Briguori, Sara / Civa, Rosa / Passarelli, Chiara / Agolini, Emanuele / Novelli, Antonio / Briuglia, Silvana

Genes (Basel). 2023 Feb. 14, v. 14, no. 2

2023

Abstract	Technological advancements in molecular genetics and cytogenetics have led to the diagnostic definition of complex or atypical clinical pictures. In this paper, a genetic analysis identifies multimorbidities, one due to either a copy number variant or a chromosome aneuploidy, and a second due to biallelic sequence variants in a gene associated with an autosomal recessive disorder. We diagnosed the simultaneous presence of these conditions, which co-occurred by chance, in three unrelated patients: a 10q11.22q11.23 microduplication and a homozygous variant, c.3470A>G (p.Tyr1157Cys), in the WDR19 gene associated with autosomal recessive ciliopathy; down syndrome and two variants, c.850G>A; p.(Gly284Arg) and c.5374G>T; p.(Glu1792*), in the LAMA2 gene associated with merosin-deficient congenital muscular dystrophy type 1A (MDC1A); and a de novo 16p11.2 microdeletion syndrome and homozygous variant, c.2828G>A (p.Arg943Gln), in the ABCA4 gene associated with Stargardt disease 1 (STGD1). The possibility of being affected by two relatively common or rare inherited genetic conditions would be suspected when signs and symptoms are incoherent with the primary diagnosis. All this could have important implications for improving genetic counseling, determining the correct prognosis, and, consequently, organizing the best long-term follow-up.
Keywords	Down syndrome ; aneuploidy ; chromosomes ; genes ; genetic analysis ; homozygosity ; muscular dystrophy ; prognosis
Language	English
Dates of publication	2023-0214
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article ; Online
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14020484
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child.

Panasiti, Ilenia / Briuglia, Silvana / Costa, Stefano / Caminiti, Lucia

BMJ case reports

2019 Volume 12, Issue 10

Abstract: Atopic dermatitis (AD) is the most common chronic skin disease in children, with an increasing prevalence in the past three decades. Adequate treatment is prescribed for individual patient based on symptoms and disease severity. However, further ... ...

Abstract	Atopic dermatitis (AD) is the most common chronic skin disease in children, with an increasing prevalence in the past three decades. Adequate treatment is prescribed for individual patient based on symptoms and disease severity. However, further underlying diagnosis should be researched when therapeutic strategies for symptoms fail and skin lesions and pruritus persist. We reported herein the case of a 19-month-old infant with a history of AD unresponsive to treatment due to the type 2 progressive familial intrahepatic cholestasis (PFIC). A new homozygous mutation of the
MeSH term(s)	ATP Binding Cassette Transporter, Subfamily B, Member 11/genetics ; Cholestasis, Intrahepatic/complications ; Cholestasis, Intrahepatic/drug therapy ; Comorbidity ; Dermatitis, Atopic/drug therapy ; Dermatitis, Atopic/etiology ; Female ; Humans ; Infant ; Pruritus/drug therapy ; Pruritus/etiology
Chemical Substances	ABCB11 protein, human ; ATP Binding Cassette Transporter, Subfamily B, Member 11
Language	English
Publishing date	2019-10-18
Publishing country	England
Document type	Case Reports ; Journal Article
ISSN	1757-790X
ISSN (online)	1757-790X
DOI	10.1136/bcr-2019-230152
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