disease management

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

Congenital myasthenic syndromes (CMS) are genetic disorders due to mutations in genes encoding proteins involved in the neuromuscular junction structure and function. CMS usually present in young children, but perinatal and adult onset has been reported. Clinical presentation is highly heterogeneous, ranging from mild symptoms to severe manifestations, sometimes with life-threatening respiratory episodes, especially in the first decade of life. Although considered rare, CMS are probably underestimated due to diagnostic difficulties.

ERS statement on protracted bacterial bronchitis in children

This European Respiratory Society statement provides a comprehensive overview on protracted bacterial bronchitis (PBB) in children. A task force of experts, consisting of clinicians from Europe and Australia who manage children with PBB determined the overall scope of this statement through consensus. Systematic reviews addressing key questions were undertaken, diagrams in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement constructed and findings of relevant studies summarised.

The italian dementia with Lewy bodies study group (DLB-SINdem): toward a standardization of clinical procedures and multicenter cohort studies design

Dementia with Lewy bodies (DLB) causes elevated outlays for the National Health Systems due to high institutionalization rate and patients' reduced quality of life and high mortality. Furthermore, DLB is often misdiagnosed as Alzheimer's disease. These data motivate harmonized multicenter longitudinal cohort studies to improve clinical management and therapy monitoring.

Serum 25-hydroxy vitamin D levels in essential hypertension

For decades 25(OH) vitamin D has been considered a dynamic steroid hormone exerting its action as a transcription factor regulating the expression of various genes (1). Vitamin D is a cluster of fat-soluble molecules analogous to steroids. Numerous forms of vitamin D exist; cholecalciferol (or vitamin D3) is synthesized in reaction to ultraviolet (UV) irradiation of the skin consequential to the photochemical cleavage of 7-dehydrocholesterol, a precursor of cholesterol in the skin.

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