A5079037567- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Eating Disorders and Behaviors
- Child Nutrition and Feeding Issues
- Autism Spectrum Disorder Research
- Diagnosis and Treatment of Venous Diseases
- Obsessive-Compulsive Spectrum Disorders
- Epilepsy research and treatment
- Oral and gingival health research
- Endometriosis Research and Treatment
- Cervical Cancer and HPV Research
- Lysosomal Storage Disorders Research
- Endometrial and Cervical Cancer Treatments
- Manufacturing Process and Optimization
- Pharmacology and Obesity Treatment
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Lymphatic System and Diseases
- Scoliosis diagnosis and treatment
- Multiple Sclerosis Research Studies
- Contact Dermatitis and Allergies
- Glycogen Storage Diseases and Myoclonus
- Child Development and Digital Technology
- Mitochondrial Function and Pathology
- Suicide and Self-Harm Studies
Azienda Ospedaliera Nazionale SS. Antonio e Biagio e Cesare Arrigo
2020-2025
Aix-Marseille Université
2023
UCLouvain
2023
Laboratoire de Biochimie
2023
Piedmont University
2023
Università degli Studi del Piemonte Orientale “Amedeo Avogadro”
2023
Charité - Universitätsmedizin Berlin
2012-2022
University of Genoa
1998-2004
RALA is a small GTPase from the RAS superfamily implicated in signal transduction and cytoskeletal dynamics. Recently, de novo variants have been associated with neurodevelopmental syndrome characterized by intellectual disability (ID), developmental delay (DD), seizures. So far, only < 12 patients reported. In this study, we report two novel impairment epilepsy carrying previously unreported variants. We performed thorough clinical investigation of these brain MRI to detect potential...
Background: the aim of study was to assess importance free light-chain analysis in Cerebrospinal Fluid (CSF) for diagnosis Multiple Sclerosis (MS) patients visited at General Hospital Alessandria. Materials and Methods: detecting κFLC λFLC levels CSF serum using Freelite tests on Optilite analyser (The Binding Site) Isoelectric Focusing (IEF) Hydrasis 2 (Sebia). Statistical conducted by GraphPad statistical software Excel tools. Calculation p-value Kruskal-Wallis test χ2 test. Evaluation...
Abstract Background Childhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is neurodegenerative condition caused by biallelic TPP1 variants. This disorder presents with subtle relatively non-specific symptoms, mimicking those observed more common paediatric followed rapid psychomotor deterioration drug-resistant epilepsy. A prompt diagnosis essential to adopt...
Background: Neurodevelopmental disorders comprise a clinically and genetically heterogeneous group of conditions that affect 2%-5% children represents public health challenge due to complexity the etiology. Only few patients with unexplained syndromic non-syndromic NDDs receive diagnosis through first-tier genetic tests as array-CGH search for FMR1 CGG expansion. The aim this study was evaluate clinical performance targeted next-generation sequencing (NGS) gene panel second-tier test in...
<h3>Background and Objectives</h3> <i>BRAT1</i> encephalopathy is an ultra-rare autosomal recessive neonatal encephalopathy. We delineate the electroclinical phenotype at presentation provide insights for early diagnosis. <h3>Methods</h3> Through a multinational collaborative, we studied cohort of neonates with associated biallelic pathogenic variants in whom detailed clinical, neurophysiologic, neuroimaging information was available from onset symptoms. Neuropathologic changes were also...
Abstract Background Lymphedema is a frequent complication after surgical treatment in gynecological oncology with substantial impact on patients´ Quality of Life (QoL). Little known about screening instruments and prevention. Primary objective was to develop validate the German version 13 items questionnaire (SQ) developed by Yost et al. provide valid instrument for early diagnosis lower extremity lymphedema (LEL). Methods After translation SQ used pt. cervical or endometrial cancer who...
<b>Background:</b> Aim of the study was to compare quality loop excision using a colposcope with results VITOM system. Results compared included cervical volume removed, intra- and postoperative complications, positive resection margins. <b>Methods:</b> A total 200 patients histologically confirmed high-grade premalignant lesions, persistent atypical cytological and/or suspicious colposcopic findings, histological discrepancies were in study. In transformation zone type 1 (T1) only...
Abstract Background Kleefstra syndrome (KS) or 9q34.3 microdeletion (OMIM #610253) is a rare genetic condition featuring intellectual disability, hypotonia, and dysmorphic facial features. Autism spectrum disorder, severe language impairment, sleep disorders have also been described. The can be either caused by in pathogenic variants the euchromatin histone methyltransferase 1 gene (EHMT1, *607001). Although epilepsy has reported 20 to 30% of subjects, detailed description epileptic features...
Biallelic mutations in the BRAT1 gene have been reported cases with Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL), since 2012. Clinical features include progressive encephalopathy, dysmorphic features, microcephaly, hypertonia, developmental delay, refractory epilepsy, episodic apnea, bradycardia. More recently, biallelic associated a milder phenotype patients migrating focal seizures absence of or nonprogressive congenital ataxia without epilepsy (NEDCAS). It has proposed...
This is an ongoing prospective study to measure the volumes of cervix by using 3D transvaginal ultrasonography (TVUS). The aim this compare technique measurements cervical volume with determination length in patients intraepithelial neoplasia before and after conization ensure highest possible security for women. 33 women abnormal Pap smear results referred Cervix Center University Hospital Charité were included study. measured TVUS prior (loop technology). Offline analysis was performed...