Publications by authors named "Luisa Lonoce"
Background/objectives: ZNF711(Zinc finger protein 711) encodes a zinc finger protein of currently undefined function, located on the X chromosome. Current knowledge includes a limited number of case reports where this gene has been exclusively associated with X-linked intellectual disability (XLID). As far as we are aware, we report the first cases of epilepsy associated with this particular variant.
View Article and Find Full Text PDFHemophagocytic Lymphohistiocytosis (HLH)/Macrophage Activation Syndrome (MAS) in children with inflammatory bowel disease (IBD) has been reported only anecdotally. This study aimed at describing the clinical features and outcomes of children diagnosed with both IBD and HLH/MAS. Data on IBD and HLH/MAS characteristics, biochemical, microbiological and genetic assessments, treatments, and outcomes were collected from the Italian Pediatric IBD Registry and presented using descriptive statistics.
View Article and Find Full Text PDFLong-term health outcome and quality of life in children with multisystem inflammatory syndrome: findings from multidisciplinary follow-up at an Italian tertiary-care paediatric hospital.
Eur J Pediatr
November 2024
Article Synopsis
- Multisystem inflammatory syndrome in children (MIS-C) is a serious condition linked to SARS-CoV-2, primarily affecting kids; this study monitored 62 patients for up to a year post-diagnosis.
- While many patients showed normal results in cardiological, gastroenterological, and neurological evaluations, about one-third continued to exhibit metabolic dysfunction after 12 months.
- The study found significant psychosocial issues, with emotional and behavioral problems affecting about 17-68% of patients, particularly those with ongoing metabolic problems, highlighting the need for comprehensive follow-up care.
Article Synopsis
- Inflammatory bowel diseases (IBDs), like Crohn's disease and ulcerative colitis, are chronic conditions affecting the digestive tract, particularly in children.
- First-line treatments include anti-TNFα antibodies, such as infliximab and adalimumab, but about 30% of patients may not respond initially or can lose their response later on.
- New therapeutic strategies, including small molecule drugs and combination therapies, are being explored, but data on their safety and effectiveness in pediatric IBD remains limited.
Neurological Involvement in Multisystem Inflammatory Syndrome in Children: Clinical, Electroencephalographic and Magnetic Resonance Imaging Peculiarities and Therapeutic Implications. An Italian Single-Center Experience.
Front Pediatr
August 2022
Objective: To describe neurological involvement in multisystem inflammatory syndrome in children (MIS-C) and to evaluate whether neurological manifestations are related to the degree of multiorgan involvement and inflammation.
Methods: The authors conducted a retrospective analysis of clinical, electroencephalographic (EEG), neuroradiological (MRI), and CSF parameters in 62 children with MIS-C (45 M, age 8 months-17 years, mean age 9 years) hospitalized between October 1, 2020 and March 31, 2022.
Results: Neurological involvement was documented in 58/62 (93.
Allergic diseases represent a global burden. Although the patho-physiological mechanisms are still poorly understood, epithelial barrier dysfunction and Th2 inflammatory response play a pivotal role. Barrier dysfunction, characterized by a loss of differentiation, reduced junctional integrity, and altered innate defence, underpins the pathogenesis of allergic diseases.
View Article and Find Full Text PDFType 1 diabetes (T1D) is one of the most common systemic diseases in childhood which predisposes the patient to serious short-term and long-term complications, affecting all body systems. Taste and olfactory impairments were first described a long time ago in adult patients affected by diabetes (both type 1 and type 2 diabetes). However, studies evaluating taste perception, behavioral attitudes (e.
View Article and Find Full Text PDF