A5082093369- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Neurogenesis and neuroplasticity mechanisms
- Renal function and acid-base balance
- Mitochondrial Function and Pathology
- Potassium and Related Disorders
- Family and Disability Support Research
- Urinary Tract Infections Management
- Electrolyte and hormonal disorders
- Respiratory viral infections research
- Metabolism and Genetic Disorders
- Eosinophilic Disorders and Syndromes
- Pediatric Urology and Nephrology Studies
- Congenital Diaphragmatic Hernia Studies
- Inflammatory Myopathies and Dermatomyositis
- Lanthanide and Transition Metal Complexes
- Neuroscience and Neuropharmacology Research
- Amino Acid Enzymes and Metabolism
- Anesthesia and Sedative Agents
- Tracheal and airway disorders
- Neuroendocrine regulation and behavior
- Ion Transport and Channel Regulation
- RNA regulation and disease
- Gastroesophageal reflux and treatments
- Medical Imaging and Pathology Studies
University Children's Hospital Zurich
2024
University of Milan
2024
Ospedale Regionale di Bellinzona e Valli
2022
Ente Ospedaliero Cantonale
2022
Istituto Pediatrico della Svizzera Italiana
2022
Ospedale San Giovanni Bellinzona
2022
Boston Children's Hospital
2019
Centre Hospitalier Universitaire de Bordeaux
2011-2012
Neurodevelopmental spectrum disorders like autism (ASD) are diagnosed, on average, beyond age 4 y, after multiple critical periods of brain development close and behavioral intervention becomes less effective. This raises the urgent need for quantitative, noninvasive, translational biomarkers their early detection tracking. We found that both idiopathic (BTBR) genetic (CDKL5- MeCP2-deficient) mouse models ASD display an early, impaired cholinergic neuromodulation as reflected in altered...
The beneficial effects of Neural Precursor Cell (NPC) transplantation in several neurological disorders are well established and they generally mediated by the secretion immunomodulatory neurotrophic molecules. We therefore investigated whether Rett syndrome (RTT), that represents first cause severe intellectual disability girls, might benefit from NPC-based therapy. Using vitro co-cultures, we demonstrate that, sensing pathological context, NPC-secreted factors induce recovery morphological...
Background Bronchiolitis is the leading acute respiratory tract infection in infants during winter season. Since beginning of SARS-CoV-2 pandemic, a reduction number bronchiolitis diagnoses has been registered. Objective The present study aimed to describe incidence and clinical features 2020–2021 season large cohort children Europe Israel, clarify role SARS-CoV-2. Setting, patients, interventions We conducted multicentre observational cross-sectional 23 paediatric emergency departments...
The biochemical hallmarks of transient pseudo-hypoaldosteronism associated with a pyelonephritis include hyponatremia, hyperkalemia, and acidosis. We tested if the kidney-urinary tract ultrasound helps in predicting diagnosis overt infants pyelonephritis.Between 2013 2020, we managed 71 previously healthy 4 weeks to 24 months age (42 males 29 females) made 17 (24%). Infants without did not significantly differ respect prevalence abnormalities, graded by means UTD classification system...
Objective: Ibuprofen is a widely used nonsteroidal anti-inflammatory drug, which has been occasionally associated with hypokalemia and metabolic acidosis. The objective of this report to analyze the literature on issue address underlying pathophysiology. Data Sources: Excerpta Medica, National Library Medicine, Web Science were searched from inception July 16, 2021. Study Selection Extraction: Papers reporting individually documented humans ibuprofen hypokalemia, acidosis, or both retained....
Phenylketonuria (PKU) leads to severe neurological disorders in childhood, shunned by the diet. The long-term prognosis after diet diversification at adolescence is uncertain. We report a case of cortical blindness young patient regressive 1 month was resumed.Mr M., 25 years old, had PKU detected birth. He maintained good serum levels Phenylalanine (Phe) (120-300 μmol/L) during childhood and got normal intellectual development. During he diversified his but low meat fish intake; Phe ~1,200...
The beneficial effects of Neural Precursor Cell (NPC) transplantation in several neurological disorders are well established and they generally mediated by the secretion immunomodulatory neurotrophic molecules. We therefore investigated whether Rett syndrome (RTT), that represents first cause severe intellectual disability girls, might benefit from an NPC-based therapy. Using vitro co-cultures, we demonstrate that, sensing pathological context, NPC-secreted factors induce recovery...