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View article: Missense but mis-spliced: germline <i>TP53</i> variant c.671A>C (p.E224A) and the path from uncertainty to pathogenicity
Missense but mis-spliced: germline <i>TP53</i> variant c.671A>C (p.E224A) and the path from uncertainty to pathogenicity Open
The TP53 gene encodes the well-known P53 tumor suppressor protein, which plays a crucial role in preventing cancer development. Germline TP53 variants cause Li-Fraumeni Syndrome (LFS), an autosomal dominant disorder associated with early-o…
View article: Genetic Landscape of a Pleural Mesothelioma in a Child Affected by NF2-Related Schwannomatosis.
Genetic Landscape of a Pleural Mesothelioma in a Child Affected by NF2-Related Schwannomatosis. Open
We report the first case of pleural mesothelioma (PM) occurring in a child affected by NF2-related schwannomatosis (NF2-SWN) and without any history of environmental exposure to asbestos. Mesothelioma is a rare secondary tumor in brain can…
View article: Plasmodium falciparum malaria in six travellers returning from Zanzibar to Italy, December 2023 to February 2025: a case series
Plasmodium falciparum malaria in six travellers returning from Zanzibar to Italy, December 2023 to February 2025: a case series Open
Between December 2023 and February 2025, six cases of Plasmodium falciparum malaria were reported in travellers returning to Italy from Zanzibar, a popular tourist destination often perceived as low risk. None had taken prophylaxis, five h…
View article: Co-occurrence of ovarian Yolk Sac Tumor and pancreatic solid pseudopapillary neoplasm in a pediatric patient: A case report
Co-occurrence of ovarian Yolk Sac Tumor and pancreatic solid pseudopapillary neoplasm in a pediatric patient: A case report Open
Background: Multiple malignant neoplasms in pediatric patients are rare, posing diagnostic and therapeutic challenges. This case report details a 12-year-old girl with a Yolk Sac Tumor (YST) found to have a Solid Pseudopapillary Neoplasm (…
View article: Blurred by a “Puff of Smoke”—A Case-Based Review on the Challenging Recognition of Coexisting CNS Demyelinating Disease and Moyamoya Angiopathy
Blurred by a “Puff of Smoke”—A Case-Based Review on the Challenging Recognition of Coexisting CNS Demyelinating Disease and Moyamoya Angiopathy Open
Moyamoya angiopathy (MMA) is a cerebrovascular disease determining chronic progressive steno-occlusion of the supraclinoid internal carotid arteries and their main branches. The pathogenesis of MMA remains largely unknown. Multiple scleros…
View article: Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center
Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center Open
Introduction Arteriovenous cerebral high-flow shunts include the vein of Galen aneurysmal malformation (VGAM) and vein of Galen dilatation, which are considered secondary to arteriovenous malformations or arteriovenous fistulas. These enti…
View article: Variants in Chromatin Remodeling Genes Are Involved in Patients With Chiari Malformation Type 1
Variants in Chromatin Remodeling Genes Are Involved in Patients With Chiari Malformation Type 1 Open
Objectives Chiari malformation type 1 (CMI) is defined by the herniation of cerebellar tonsils of 5 mm or more, with possible neurological consequences, including compression of the neural tissue and/or anomalies in cerebral spinal fluid c…
View article: Multiple Tumors in a Patient with Interleukin-2-Inducible T-Cell Kinase Deficiency: A Case Report
Multiple Tumors in a Patient with Interleukin-2-Inducible T-Cell Kinase Deficiency: A Case Report Open
Immune dysregulation in Inborn Errors of Immunity (IEI) shows a broad phenotype, including autoimmune disorders, benign lymphoproliferation, and malignancies, driven by an increasing number of implicated genes. Recent findings suggest that…
View article: Real-World Efficacy of Biological Therapies in Severe Asthma: A Focus on Small Airways
Real-World Efficacy of Biological Therapies in Severe Asthma: A Focus on Small Airways Open
Background: Severe asthma is a challenging condition that often resists traditional treatments and requires high-dose inhaled corticosteroids and other controllers to manage uncontrolled symptoms. Recent advances include the use of biologi…
View article: Novel causative variants in Legius syndrome: <i>SPRED1</i> Genotype spectrum expansion
Novel causative variants in Legius syndrome: <i>SPRED1</i> Genotype spectrum expansion Open
Legius syndrome, commonly referred to as SPRED1‐related neurofibromatosis type 1‐like syndrome, is a rare autosomal dominant disorder characterized by café‐au‐lait macules, freckling, lipomas, macrocephaly, and heterogeneous neurodevelopme…
View article: Efficacy of a Multistrain Synbiotic Treatment in Acute and Post-Acute COVID-19 Patients: A Double-Blind, Placebo-Controlled Randomized Trial
Efficacy of a Multistrain Synbiotic Treatment in Acute and Post-Acute COVID-19 Patients: A Double-Blind, Placebo-Controlled Randomized Trial Open
Background and Aims: Several studies reported the effect of COVID-19 on inducing gut dysbiosis, which is also correlated with disease severity. This study aims to investigate the effect of a nutraceutical formula on the shift of microbiota…
View article: LGG-38. UNRESECTABLE PEDIATRIC LOW-GRADE GLIOMAS OF THE BRAIN: TARGETED THERAPY COMPARED WITH STANDARD CHEMOTHERAPY AS FIRST-LINE TREATMENT
LGG-38. UNRESECTABLE PEDIATRIC LOW-GRADE GLIOMAS OF THE BRAIN: TARGETED THERAPY COMPARED WITH STANDARD CHEMOTHERAPY AS FIRST-LINE TREATMENT Open
BACKGROUND Pediatric low-grade gliomas (pLGG) frequently harbor MAPK-pathway mutations that determine poor response to standard chemotherapy (sCt). Targeted agents against BRAF-V600E mutation (MAPK-i) are emerging as molecularly driven tre…
View article: IMG-24. MAPK-ALTERED PEDIATRIC LOW-GRADE GLIOMA: MRI HINTS TO EXPLAIN THE INTERPLAY BETWEEN GLIOMA AND IMMUNE CELLS
IMG-24. MAPK-ALTERED PEDIATRIC LOW-GRADE GLIOMA: MRI HINTS TO EXPLAIN THE INTERPLAY BETWEEN GLIOMA AND IMMUNE CELLS Open
BACKGROUND In MAPK-altered pediatric low-grade glioma (pLGG), immune infiltration may be involved in treatment response. It is debated whether tumor immune cell infiltration is due to expansion of endogenous resident microglia or to the ac…
View article: Antivirals and monoclonal antibody combination therapy in haematological patients in the omicron era
Antivirals and monoclonal antibody combination therapy in haematological patients in the omicron era Open
Im We describe here a single-center case series of 27 IC COVID-19 inpatients (mostly with haematological disorders) treated with a combined therapy based on tixagevimab/cilgavimab (T/C) plus small-molecule antivirals (AV), between April 1 …
View article: Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder Open
View article: Abdominal rhabdoid tumor presenting with symptomatic spinal epidural compression in a newborn. A case report
Abdominal rhabdoid tumor presenting with symptomatic spinal epidural compression in a newborn. A case report Open
The occurrence of an abdominal tumor invading the spinal canal and causing symptoms of epidural compression is rare in an infant, and exceptional at birth. Peripheral neuroblastic tumors are by far the most common cause. Emergency chemothe…
View article: Exercise-Induced Asthma: Managing Respiratory Issues in Athletes
Exercise-Induced Asthma: Managing Respiratory Issues in Athletes Open
Asthma is a complex respiratory condition characterized by chronic airway inflammation and variable expiratory airflow limitation, affecting millions globally. Among athletes, particularly those competing at elite levels, the prevalence of…
View article: Neuroblastoma Patients’ Outcome and Chromosomal Instability
Neuroblastoma Patients’ Outcome and Chromosomal Instability Open
Chromosomal instability (CIN) induces a high rate of losses or gains of whole chromosomes or parts of chromosomes. It is a hallmark of most human cancers and one of the causes of aneuploidy and intra-tumor heterogeneity. The present study …
View article: Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals Open
View article: Vein of Galen aneurysmal malformation in newborns: a retrospective study to describe a paradigm of treatment and identify risk factors of adverse outcome in a referral center
Vein of Galen aneurysmal malformation in newborns: a retrospective study to describe a paradigm of treatment and identify risk factors of adverse outcome in a referral center Open
Background Vein of Galen aneurysmal malformation (VGAM) is a rare cerebral vascular malformation associated with significant morbidity and mortality. Newborns with VGAM without adequate treatment may develop rapidly deteriorating high outp…
View article: Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity Open
Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder with a broad spectrum of associated signs and symptoms, including skeletal anomalies. The association of NF1 with anterior chest wall deformities has been recently reporte…
View article: Elucidating the clinical and molecular spectrum of<i>SMARCC2</i>-associated NDD in a cohort of 65 affected individuals
Elucidating the clinical and molecular spectrum of<i>SMARCC2</i>-associated NDD in a cohort of 65 affected individuals Open
PURPOSE Coffin-Siris and Nicolaides-Baraitser syndromes, are recognisable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical and molecu…
View article: Multiple Genes with Potential Tumor Suppressive Activity Are Present on Chromosome 10q Loss in Neuroblastoma and Are Associated with Poor Prognosis
Multiple Genes with Potential Tumor Suppressive Activity Are Present on Chromosome 10q Loss in Neuroblastoma and Are Associated with Poor Prognosis Open
Neuroblastoma (NB) is a tumor affecting the peripheral sympathetic nervous system that substantially contributes to childhood cancer mortality. Despite recent advances in understanding the complexity of NB, the mechanisms determining its p…
View article: Expanding the phenotype associated with biallelic SLC20A2 variants
Expanding the phenotype associated with biallelic SLC20A2 variants Open
View article: Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213 Open
Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by mutations in NF1 gene, coding for neurofibromin 1. NF1 can be associated with Moyamoya disease (MMD), and this association, typical of paediatric patients, is referred t…
View article: Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation?
Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation? Open
Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome caused by pathogenic variants in the NF1 gene, encoding a multidomain inhibitor of Ras activity. Thus, NF1 is considered a RASopathy and drugs targeting the RAS/mitogen-activated …
View article: Early molecular diagnosis of BRAF status drives the neurosurgical management in BRAF V600E-mutant pediatric low-grade gliomas: a case report
Early molecular diagnosis of BRAF status drives the neurosurgical management in BRAF V600E-mutant pediatric low-grade gliomas: a case report Open
View article: Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study Open
View article: Effects of SARS-CoV-2 Infection on Pulmonary Function Tests and Exercise Tolerance
Effects of SARS-CoV-2 Infection on Pulmonary Function Tests and Exercise Tolerance Open
Introduction: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has been shown to cause long-term pulmonary sequelae. Objects: The aim of this study was to evaluate the consequences of the SARS-CoV-2 infection on pulmonary funct…
View article: Genomic Analysis Made It Possible to Identify Gene-Driver Alterations Covering the Time Window between Diagnosis of Neuroblastoma 4S and the Progression to Stage 4
Genomic Analysis Made It Possible to Identify Gene-Driver Alterations Covering the Time Window between Diagnosis of Neuroblastoma 4S and the Progression to Stage 4 Open
Neuroblastoma (NB) is a tumor of the developing sympathetic nervous system. Despite recent advances in understanding the complexity of NB, the mechanisms that determine its regression or progression are still largely unknown. Stage 4S NB i…