Marco Fabiani
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View article: Maternal Folate Receptor Alpha Autoantibodies and Increased Fetal Nuchal Translucency as Potential Early Markers of Autism Spectrum Disorder
Maternal Folate Receptor Alpha Autoantibodies and Increased Fetal Nuchal Translucency as Potential Early Markers of Autism Spectrum Disorder Open
Purpose To investigate the association between increased fetal nuchal translucency (NT) and maternal folate receptor alpha autoantibodies (FRAA) positivity, and to evaluate the subsequent risk of non‐syndromic autism spectrum disorder (ASD…
View article: Folinic Acid Supplementation During Pregnancy in Two Women with Folate Receptor Alpha Autoantibodies: Potential Prevention of Autism Spectrum Disorder in Offspring
Folinic Acid Supplementation During Pregnancy in Two Women with Folate Receptor Alpha Autoantibodies: Potential Prevention of Autism Spectrum Disorder in Offspring Open
This report presents two cases of pregnant women positive for folate receptor alpha (FRα) autoantibodies who received folinic acid supplementation. Both had previously given birth to children diagnosed with autism spectrum disorder (ASD). …
View article: The Italian public health response during the pandemic emergency: from qualitative data to the “performance index” of care provided by Spoleto Hospital
The Italian public health response during the pandemic emergency: from qualitative data to the “performance index” of care provided by Spoleto Hospital Open
Background The public health emergency was one of the most severe consequences of the COVID-19 pandemic outbreak, which occurred in successive waves since March 2020. In this scenario, the Hospital of Spoleto “San Matteo degli Infermi” (lo…
View article: Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review
Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review Open
The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with sever…
View article: Characterization of a Novel GATA4 Missense Variant p.Gly303Trp in a Family with Septal Heart Defects and Pulmonary Stenosis
Characterization of a Novel GATA4 Missense Variant p.Gly303Trp in a Family with Septal Heart Defects and Pulmonary Stenosis Open
Congenital heart disease (CHD) represents a prevalent group of structural cardiac anomalies often associated with alterations in key transcription factors including NKX2-5, TBX5, and, particularly, GATA4. GATA4 is a zinc finger transcripti…
View article: Correction: Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR)
Correction: Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) Open
View article: Reclassification of VUS Using ACMG/AMP Criteria Adapted for Sarcomeric Genes Related to Hypertrophic Cardiomyopathy: Resolution Rate and Considerations
Reclassification of VUS Using ACMG/AMP Criteria Adapted for Sarcomeric Genes Related to Hypertrophic Cardiomyopathy: Resolution Rate and Considerations Open
Background Genetic testing is valuable to confirm molecular diagnosis in nearly 60% of cases suspected of hypertrophic cardiomyopathy (HCM). However, the interpretation of variants, especially those of uncertain significance (VUSs), remain…
View article: Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR)
Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) Open
Integrating STR-based UPD screening within PGT-SR workflows is a reliable and cost-effective strategy that enhances embryo selection and mitigates the risk of imprinting disorders. This approach improves reproductive outcomes for families …
View article: Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies
Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies Open
Ciliopathies are rare congenital disorders caused by defects in the structure or function of cilia, which can lead to a wide range of clinical manifestations. Among them, a subset known as skeletal ciliopathies exhibits significant phenoty…
View article: Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic <i>MYBPC3</i> Variants in an Italian Cohort
Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic <i>MYBPC3</i> Variants in an Italian Cohort Open
Hypertrophic cardiomyopathy (HCM) is a genetic cardiac muscle disease characterized by clinical and genetic heterogeneity. Genetic testing can reveal the presence of disease-causing variants in genes encoding sarcomere proteins. However, i…
View article: Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review
Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review Open
Hereditary cardiomyopathies (CMPs), including arrhythmogenic cardiomyopathy (ACM), dilated cardiomyopathy (DCM), and hypertrophic cardiomyopathy (HCM), represent a group of heart disorders that significantly contribute to cardiovascular mo…
View article: Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review
Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review Open
Hereditary cardiomyopathies (CMPs), including Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), Dilated Cardiomyopathy (DCM), and Hypertrophic Cardiomyopathy (HCM), represent a group of heart disorders that significantly contribute t…
View article: Experimental Investigation of a H2O2 Hybrid Rocket with Different Swirl Injections and Fuels
Experimental Investigation of a H2O2 Hybrid Rocket with Different Swirl Injections and Fuels Open
Hybrid rockets have very interesting characteristics like simplicity, reliability, safety, thrust modulation, environmental friendliness and lower costs, which make them very attractive for several applications like sounding rockets, small…
View article: Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience
Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience Open
Fetal anomalies, characterized by structural or functional abnormalities occurring during intrauterine life, pose a significant medical challenge, with a notable prevalence, affecting approximately 2–3% of live births and 20% of spontaneou…
View article: Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants
Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants Open
Background . The diagnostic process for identifying variations in sex development (DSD) remains challenging due to the limited availability of evidence pertaining to the association between phenotype and genotype. DSD incidence is reported…
View article: Validating Clinical Exome Sequencing (CES) Test for Copy Number Variation (CNV) Analysis in Patients with Autism Spectrum Disorder
Validating Clinical Exome Sequencing (CES) Test for Copy Number Variation (CNV) Analysis in Patients with Autism Spectrum Disorder Open
A routine methodologies to detect germline copy number variants (CNVs) are ArrayCGH, and SNParray, while clinical exome sequencing (CES) it is not a standard methods used in clinical settings. This study aims to investigate the efficiency …
View article: The role of genetic testing in suspected fulminant myocarditis: A case report
The role of genetic testing in suspected fulminant myocarditis: A case report Open
View article: Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II
Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II Open
Microcephalic Osteodysplastic Primordial Dwarfism type II (MOPDII) represents the most common form of primordial dwarfism. MOPD clinical features include severe prenatal and postnatal growth retardation, postnatal severe microcephaly, hypo…
View article: Re-Evaluation of Clinical Exome Can Identify Pathogenic Variants For Patients With Autism Spectrum Disorder
Re-Evaluation of Clinical Exome Can Identify Pathogenic Variants For Patients With Autism Spectrum Disorder Open
Approximately half of patients with rare genetic diseases remain undiagnosed after clinical exome sequencing (CES).We performed a genetic re-evaluation of undiagnosed patients more than 4 years after their initial negative CES report to de…
View article: Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?
Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease? Open
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease, characterized by the presence of unexplained left ventricular hypertrophy. This condition is often associated with electrocardiographic abnormalities including QTc prolong…
View article: A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy Open
Both genetic and environmental factors contribute to the development of dilated cardiomyopathy. Among the genes involved, TTN mutations, including truncated variants, explain 25% of DCM cases. We performed genetic counseling and analysis o…
View article: <i>De novo</i> 3q13.13q21.2 interstitial deletion and paternal 12p13.3 microdeletion in a fetus with dysplasia of the corpus callosum and ventriculomegaly: A case report
<i>De novo</i> 3q13.13q21.2 interstitial deletion and paternal 12p13.3 microdeletion in a fetus with dysplasia of the corpus callosum and ventriculomegaly: A case report Open
Chromosome 3q syndrome is a well-known genetic condition caused by interstitial deletion in the long arm of chromosome 3. The phenotype of this syndrome is variable and the great variability in the extent of these deletions leads to a wide…
View article: Agnathia-Otocephaly Complex Due to a De Novo Deletion in the OTX2 Gene
Agnathia-Otocephaly Complex Due to a De Novo Deletion in the OTX2 Gene Open
Agnathia-otocephaly complex (AOC) is a rare and usually lethal malformation typically characterized by hypoplasia or the absence of the mandible, ventromedial and caudal displacement of the ears with or without the fusion of the ears, a sm…
View article: Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature? Open
Pseudo-anodontia consists in the clinical, not radiographic, absence of teeth, due to failure in their eruption. It has been reported as part of an extremely rare syndrome, named GAPO syndrome. Pseudo-hypoparathyroidism type 1a (PHPT-1a) i…
View article: A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome
A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome Open
Juvenile polyposis syndrome (JPS) is an autosomal dominant disorder characterized by hyperplastic polyps in the upper and lower gastrointestinal (GI) tract with a high risk of developing GI cancers. We have described a three-generation Ita…
View article: Numerical Simulations of Fuel Shape Change and Swirling Flows in Paraffin/Oxygen Hybrid Rocket Engines
Numerical Simulations of Fuel Shape Change and Swirling Flows in Paraffin/Oxygen Hybrid Rocket Engines Open
View article: A Rapid and Consistent Method to Identify Four SARS-CoV-2 Variants during the First Half of 2021 by RT-PCR
A Rapid and Consistent Method to Identify Four SARS-CoV-2 Variants during the First Half of 2021 by RT-PCR Open
Since 2020, the COVID-19 pandemic has spread worldwide, causing health, economic, and social distress. Containment strategies rely on rapid and consistent methodology for molecular detection and characterization. Emerging variants of conce…
View article: Survey of fully vaccinated anti‐COVID 19 people from June to November 2021: Single Italian center study
Survey of fully vaccinated anti‐COVID 19 people from June to November 2021: Single Italian center study Open
The novel severe acute respiratory syndrome coronavirus (SARS-CoV-2) and the associated coronavirus disease 2019 (COVID-19) continue to spread globally, with over 265 million confirmed cases. In Italy, the main strategy to prevent virus tr…
View article: Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial
Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial Open
View article: Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication
Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication Open
The 4q deletion syndrome is a well-known rare genetic condition caused by partial, terminal, or interstitial deletion in the long arm (q) of chromosome 4. The phenotype of this syndrome shows a broad spectrum of clinical manifestations due…