Matteo Cassina
A5068630762- Eating Disorders and Behaviors
- Pregnancy and Medication Impact
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genetic Associations and Epidemiology
- Pregnancy and preeclampsia studies
- Neurofibromatosis and Schwannoma Cases
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Genetic Syndromes and Imprinting
- Pharmacological Effects and Toxicity Studies
- RNA regulation and disease
- Epigenetics and DNA Methylation
- Mitochondrial Function and Pathology
- Thyroid Disorders and Treatments
- Vascular Malformations Diagnosis and Treatment
- Meningioma and schwannoma management
- Hearing, Cochlea, Tinnitus, Genetics
- Obesity, Physical Activity, Diet
- Coenzyme Q10 studies and effects
- Connective tissue disorders research
- Advanced battery technologies research
- Congenital Ear and Nasal Anomalies
- Renal and related cancers
- Folate and B Vitamins Research
University of Padua
2015-2024
Città della Speranza Foundation
2015-2019
Genomics (United Kingdom)
2017
Universitat de Barcelona
2015
Policlinico S.Orsola-Malpighi
2015
Azienda Ospedaliera di Padova
2012
Weatherford College
2009
University of Brescia
2009
Clinical hyperthyroidism is not uncommon in pregnancy, with a reported prevalence of 0.1 to 0.4%. The available antithyroid drugs are propylthiouracil and methimazole/carbimazole.In this report we examined the association both congenital malformations using data from International Clearinghouse for Birth Defects Surveillance Research.The study used case-affected control analysis included 18,131 cases first-trimester exposure medication. A total 127 subjects were born mothers known drug...
Findings from animal studies have suggested that leflunomide may be a human teratogen. In the only cohort study published to date, an increase in adverse outcomes pregnancies after exposure was not detected. The aim of present analysis expand on previously data with description birth among women who did meet previous criteria but were exposed either during pregnancy or prior conception.Data exposures and collected 45 pregnant had contacted counseling services Organization Teratology...
Coenzyme Q10 (CoQ10) is an essential component of eukaryotic cells and involved in crucial biochemical reactions such as the production ATP mitochondrial respiratory chain, biosynthesis pyrimidines, modulation apoptosis. CoQ10 requires at least 13 genes for its biosynthesis. Mutations these cause primary deficiency, a clinically genetically heterogeneous disorder. To date mutations 8 (PDSS1, PDSS2, COQ2, COQ4, COQ6, ADCK3, ADCK4, COQ9) have been associated with deficiency presenting wide...
Esophageal atresia (EA) is a congenital malformation of the upper gastrointestinal tract with an estimated prevalence varying from 1 in 2500 to 4500 births. The aim this study was describe epidemiology EA between 1981 and 2012 evaluate patients' survival.This used data population-based Italian Congenital Malformation Registry. survival status ascertained by linking registry records, vital records regional registries patients. Kaplan-Meier methods were estimate probabilities up 25 years Cox...
<h3>Background</h3> <i>COQ4</i> encodes a protein that organises the multienzyme complex for synthesis of coenzyme Q<sub>10</sub> (CoQ<sub>10</sub>). A 3.9 Mb deletion chromosome 9q34.13 was identified in 3-year-old boy with mental retardation, encephalomyopathy and dysmorphic features. Because encompassed COQ4, patient screened CoQ<sub>10</sub> deficiency. <h3>Methods</h3> complete molecular biochemical characterisation patient9s fibroblasts yeast model were performed. <h3>Results</h3> The...
BackgroundAlthough attention-deficit/hyperactivity disorder (ADHD) and eating disorders (EDs) frequently co-occur, little is known about the shared etiology. In this study, we comprehensively investigated genetic association between ADHD various EDs, including anorexia nervosa (AN) other EDs such as bulimia nervosa.MethodsWe applied different genetically informative designs to register-based information of a Swedish nationwide population (N = 3,550,118). We first examined familial...
Multiple (epi)genetic defects affecting the expression of imprinted genes within 11p15.5 chromosomal region underlie Silver-Russell (SRS) and Beckwith-Wiedemann (BWS) syndromes. The molecular diagnosis these opposite growth disorders requires a multi-approach flowchart to disclose known primary secondary alterations; however, up 20 30 % clinically diagnosed BWS SRS cases remain without diagnosis. complex structure 11p15 with variable CpG methylation low-rate mosaicism may account for missed...
COQ2 (p-hydroxybenzoate polyprenyl transferase) encodes the enzyme required for second step of final reaction sequence Coenzyme Q10 (CoQ) biosynthesis. Its mutations represent a frequent cause primary CoQ deficiency and have been associated with widest clinical spectrum, ranging from fatal neonatal multisystemic disease to late-onset encephalopathy. However, reasons this variability are still unknown. We characterized structure human COQ2, defined its subcellular localization developed yeast...
Abstract Eating disorders and substance use frequently co‐occur. Twin studies reveal shared genetic variance between liabilities to eating use, with the strongest associations symptoms of bulimia nervosa problem alcohol (genetic correlation [ r g ], twin‐based = 0.23‐0.53). We estimated disorder phenotypes using data from genome‐wide association (GWAS). Four (anorexia [AN], AN binge eating, without a factor score), eight substance‐use‐related (drinks per week, [AUD], smoking initiation,...
Mutations in COQ8B cause steroid-resistant nephrotic syndrome with variable neurological involvement. In yeast, COQ8 encodes a protein required for coenzyme Q (CoQ) biosynthesis, whose precise role is not clear. Humans harbor two paralog genes: COQ8A and (previously termed ADCK3 ADCK4). We have found that mitochondrial matrix peripherally associated the inner membrane. can complement ΔCOQ8 yeast strain when its targeting sequence (MTS) replaced by MTS. This model was employed to validate...
We describe the molecular and clinical characterization of nine individuals with recurrent, 3.4-Mb, de novo deletions 3q13.2–q13.31 detected by chromosomal microarray analysis. All have hypotonia language motor delays; they variably express mild to moderate cognitive delays (8/9), abnormal behavior (7/9), autism spectrum disorders (3/9). Common facial features include downslanting palpebral fissures epicanthal folds, a slightly bulbous nose, relative macrocephaly. Twenty-eight genes map...
Aims Metformin is used to treat type 2 diabetes, polycystic ovary syndrome associated infertility, and gestational diabetes. This study aims evaluate the safety of metformin in early pregnancy. Method We evaluated risk major birth defects pregnancy losses a cohort pregnant women exposed during first trimester for different indications relative matched unexposed reference group. Results The was 5.1% (20/392) pregnancies 2.1% (9/431) group [adjusted odds ratio (OR) 1.70; 95% CI 0.70–4.38]....
Purpose: To evaluate the prevalence, vascular features, and clinical diagnostic implication of retinal abnormalities (RVAs) associated with neurofibromatosis Type 1 (NF1) in a large cohort patients. Methods: Two hundred ninety-four patients affected by NF1 were consecutively enrolled. The presence RVAs was detected means infrared confocal scanning laser ophthalmoscopy images. Three age- race-matched healthy subjects enrolled as control group. Fluorescein angiography, indocyanine green...
Abstract Background Neurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by inactivating mutations of the NF1 gene. The wide allelic heterogeneity this condition, with more than 3,000 pathogenic variants reported so far, paralleled its high clinical variability, which observed even within same family. definition genotype–phenotype correlations has been hampered complexity gene and, although a few exceptions have recognized, course remains unpredictable in most patients....
The European Reference Networks, ERNs, are virtual networks for healthcare providers across Europe to collaborate and share expertise on complex or rare diseases conditions. As part of the Clinical Patient Management System, CPMS, a secure digital platform, was developed allow facilitate web-based, clinical consultations between submitting clinicians relevant international experts. Network Intellectual Disability, TeleHealth Congenital Anomalies, ERN ITHACA, formed harness diagnostic in...