SALPIETRO V.

Introduction: Obesity is associated with a chronic low-grade inflammation. High-mobility group box 1 protein (HMGB1) plays a key role in inflammation and immunostimulatory and chemotactic processes. The aim of the study was to assess the role of HMGB1 in obese children and to evaluate its diagnostic profile in identifying childhood...

Aim. This report highlights the metabolic, endocrine and cardiovascular comorbidities in a case of familial partial lipodystrophy (FPLD), and also evaluates the efficacy and safety of metformin therapy.Methods. Mutational analysis was carried out of the LMNA gene in a teenage girl with an FPLD phenotype. Insulin resistance, sex hormones and...

IntroductionEndocrinopathies and metabolic disorders-characterized thalassemic (T) patients and the prevention and treatment of these comorbidities are important targets to be achieved. The aim of the study was to analyze the diagnostic and prognostic role of ferritin for endocrinopathies and metabolic disorders in T patients. The ability of...

High-mobility group box protein 1 (HMGB1) is a nonhistone nuclear protein that has a dual function. Inside the cell, HMGB1 binds DNA, regulating transcription and determining chromosomal architecture. Outside the cell, HMGB1 activates the innate system and mediates a wide range of physiological and pathological responses. HMGB1 exerts these...

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Adipose tissue is considered an endocrine organ secreting numerous neuroendocrine and peripheral peptides, also known as "adipokines." Although, the role of adipokines, precisely visfatin, is still controversial, it was recently discovered their involvement in different mechanisms, including metabolism, inflammation, and endocrine-immunologic...

Proteus syndrome (PS) is an extremely rare and complex disease characterized by malformations and overgrowth of different tissues. Prognosis of affected patients may be complicated by premature death, mostly due to pulmonary embolism and respiratory failure. To date, immunological data in Proteus syndrome are scarse.We report on the novel...

Objective Adipocytes, regulated by insulin, represent the major peripheral source of prolactin (PRL), which play a pivotal role in energy balance, acting on adipogenesis and lipolysis. The aim of this study was to investigate whether PRLwas associated with obesity-related inflammatory status and metabolic parameters. The diagnostic and...

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Obesity and attendant co-morbidities are an emergent problem in public health. Much attention has focused on prevention, especially during the perinatal period. Breastfeeding is considered a possible protective factor for obesity in childhood, influencing gene-neuroendocrine-environment-lifestyle interaction. Therefore, breastfeeding and its...

Pseudotumor cerebri syndrome (PTCS), characterized mainly by raised intracranial pressure (ICP), occurs in children as well as adults. Management of PTCS in adolescents (but not necessarily prepubertal children) is similar to that in older patients. Augmented formation of cerebrospinal fluid (CSF) has been implicated in the elevated ICP of...

The terms "pseudotumor cerebri" and "benign intracranial hypertension," respectively, introduced by Nonne in 1904 and Foley in 1955, were originally used to describe patients with raised intracranial pressure in whom no tumor was found and whose course was considered to be relatively benign. In the modern era of medicine, the natural history of...

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Background: Nemaline myopathy is a rare, non progressive congenital skeletal muscle disorder defined by the presence of inclusions known as nemaline rods in muscle fibers. Several clinical subtypes have been described, according to degree of muscle weakness, severity and age at onset. The course of nemaline myopathy is very slowly progressive,...

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The rapid development in the last 10-15 years of microarray technologies, such as oligonucleotide array Comparative Genomic Hybridization (CGH) and Single Nucleotide Polymorphisms (SNP) genotyping array, has improved the identification of fine chromosomal structural variants, ranging in length from kilobases (kb) to megabases (Mb), as an...

Various neurological and psychiatric manifestations have been recorded in children with adrenal disorders. Based on literature review and on personal case-studies and case-series we focused on the pathophysiological and clinical implications of glucocorticoid-related, mineralcorticoid-related, and catecholamine-related paediatric nervous system...

Background:Idiopathic intracranial hypertension (IIH) is a syndrome consisting of headache, visual field defects and papilledema of uncertain etiology. The prospect was raised previously as to an association between aldosteronism and increased intracranial pressure in 2 middle-aged women with IIH and primary aldosteronism (PAL). Since then, 2...

Stickler syndrome is a genetically heterogeneous collagenopathy characterized by auditory, ocular, musculoskeletal, and orofacial abnormalities. Stickler syndrome type 1 typically presents ophthalmologic involvement and is due to heterozygous defects of the COL2A1 gene, that have been also identified as the molecular cause of a continuous...

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