Valeria Ferraù

High-mobility group protein B1: a new biomarker of metabolic syndrome in obese children.

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 obesity-related complications, such as the metabolic syndrome (MS). PATIENTS AND METHODS Sixty obese children were enrolled and compared with 40 healthy children (control). Homeostasis model assessment of insulin resistance (HOMA-IR), lipid profile, thyroid hormones, and pro- and anti-inflammatory peptides such as C-reactive protein (CRP), adiponectin, interleukin 6 (IL6), IL18, IL23, TNFα, resistin, and HMGB1 were evaluated. Receiver operating characteristics (ROC) analysis was employed to calculate the area under the curve (AUC) for HMGB1, IL6, and adiponectin to find the best cutoff values capable of identifying MS in obese children. RESULTS HMGB1 levels were statistically higher in obese patients than in the control group (19.4±6.8 vs 3.7±1.2 ng/ml; P<0.0001). In obese patients, IL18, IL6, and resistin levels were significantly high, while adiponectin levels were low. At multivariate analysis, HMGB1 was found to be independently correlated with BMI, IL23, IL6, free triiodothyronine, HDL, and HOMA-IR. At ROC analysis, HMGB1 showed higher sensitivity and specificity (AUC, 0. 992; sensitivity, 94.7%; specificity, 97.5%) than IL6 and adiponectin in identifying MS in obese children. CONCLUSION HMGB1 plays an important role in the inflammatory process associated with childhood obesity. This peptide may be an important diagnostic marker for obesity-related complications, such as MS.

Indeterminate Colitis: A Distinctive Clinical Pattern of Inflammatory Bowel Disease in Children

Inflammatory bowel diseases such as Crohn disease and ulcerative colitis are frequently clinical conditions in children. Another clinical entity, indeterminate colitis, is considered a subgroup of pediatric inflammatory bowel disease. It is generally characterized by early onset in the first years of life, and clinical behavior is rapidly progressive to pancolitis. The definition of indeterminate colitis has changed over the years, but it is usually used to identify severe colitis with overlapping features of ulcerative colitis and Crohn disease. Ileal pouch-anal anastomosis is the surgical treatment of choice for patients with ulcerative colitis, but increased rates of complications have been found in indeterminate colitis. Therefore, it is better to be cautious in patients with indeterminate colitis who present with severe attacks and require surgery.

Lactobacillus reuteri in children with functional abdominal pain (FAP).

Aim:  Functional abdominal pain (FAP) is a frequent condition affecting 10–20% of children and can be considered within the classification of functional gastrointestinal disorders (FGID). The objective of this study was to determine the effect of daily supplementation with the probiotic Lactobacillus reuteri DSM 17938 in children with FAP.

Gene-environment interaction in childhood asthma.

The importance of early life environmental influences on the etiology of asthma is implied by the observed geographic and temporal variation in the prevalence of the disease among children. There is evidence pointing to the role of exposure to allergen, various aspects of diet and hygiene-related factors in the etiology of asthma. There is also evidence that heritable factors influence the impact of hygiene-related exposures on the risk of having asthma. A number of important gene-environment interactions have been identified. These interactions point to the biology of environmental exposures as the involved genetic variation is suggestive of certain underlying mechanisms. Polymorphisms within genes coding for the toll-like receptor-lipopolysaccharide (TLR-LPS) signaling pathway may underlie variations in effects of hygiene-related exposures, including specifically endotoxin, on the risk of developing allergic sensitization and allergic disease. This review presents recent findings illustrating the role of gene-environment interactions in childhood asthma susceptibility.

Proton pump inhibitors in pediatrics: evaluation of efficacy in GERD therapy.

Gastroesophageal reflux (GER) is defined as the passage of gastric contents into the esophagus. It occurs in healthy infants and can be considered physiological process. Uncomplicated GER can present with recurrent vomiting or regurgitation without any other symptoms and is usually managed by educating, reassuring, and guiding the parent without other intervention. GER disease (GERD) refers to the appearance of troublesome symptoms or complications (erosive esophagitis, ulceration, Barretts esophagus) and may warrant acid suppression. Proton Pump Inhibitors (PPIs) are the most effective pharmacologic agents available for the treatment of children with GERD. In the pediatric practice only omeprazole, lansoprazole and esomeprazole are available over the first year of life. The empiric use in infants with nonspecific symptoms (excessive crying, regurgitation, feeding refusal, chronic cough) is frequent without randomized controlled study. Our paper will focus on the correct indications, dosages, duration of treatment and safety of PPI use in pediatric population.

Pediatric Hashimoto's encephalopathy with peripheral nervous system involvement.

Hashimoto encephalopathy is a syndrome of encephalopathy associated with elevated concentration of circulating serum anti‐thyroid antibodies usually responsive to steroid therapy. We report a 13‐year‐old girl with Hashimoto encephalopathy and peripheral nervous system involvement. The child had experienced high‐grade pyrexia, global headache and sleeplessness. After admission she had an ileus with a distended urinary bladder, hallucinations and cognitive impairment. She had reduced deep tendon reflexes and distal sensory deficiency. Anti‐thyroglobulin antibodies were raised at 2121 IU/mL (normal, 0–40) and the anti‐thyroperoxidase was high at 886 IU/mL (normal, 0–50). Progressive neurological and psychiatric remission was noted after i.v. methylprednisolone. Follow‐up magnetic resonance imaging showed complete resolution of the foci of signal abnormality previously yielded. This case report is the first, to the best of our knowledge, to describe peripheral nervous system involvement in a child with a diagnosis of Hashimotos encephalopathy.

Comparison of three non-invasive ventilation strategies (NSIPPV/BiPAP/NCPAP) for RDS in VLBW infants

Abstract Background: Non-invasive ventilation (NIV) significantly changed the management of respiratory distress syndrome (RDS) in preterm infants. Further perspectives for neonatologists regard the assessment of different NIV strategies in terms of availability, effectiveness, and failure. Objective: The aim of the present study is to evaluate the effectiveness of three different NIV strategies: nasal continuous positive airway pressure (N-CPAP), nasal synchronized intermittent positive pressure ventilation (N-SIPPV), and nasal bilevel-CPAP (BiPAP), as first intention treatment for RDS in very low birth-weight infants (VLBW). Methods: A multicenter retrospective study was conducted in three neonatal intensive care unit (NICUs) that enrolled 191 VLBW infants complicated by RDS, who received, as first intention treatment for RDS, three different NIV approaches (N-CPAP: n = 66; N-SIPPV: n = 62, BiPAP: n = 63). We evaluated the performance of different NIV strategies by primary (failure within the first 5 d of life) and some selected secondary end-points. Results: The incidence of NIV failure was significantly higher in the N-CPAP group (22/66) versus N-SIPPV/BiPAP groups (11/62; 11/63) (p < .05 for both), while no difference was observed between N-SIPPV and BiPAP groups. Moreover, no differences were found between the three groups regarding secondary outcomes. Conclusions: The present study shows that first intention N-SIPPV/BiPAP, as NIV support, augment the beneficial effects of N-CPAP contributing to a reduced risk of failure in VLBW infants complicated by RDS. Data open up to further RCTs on a wider population to evaluate NIV effectiveness on long-term outcomes.

Autoimmune liver disease in Noonan Syndrome.

Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Autoimmune Hepatitis (AIH) is a cryptogenic, chronic and progressive necroinflammatory liver disease. Common features of AIH are hypergammaglobulinemia (IgG), presence of circulating autoantibodies, histological picture of interface hepatitis and response to immunosuppressant drugs. Conventional treatment with Prednisone and Azathioprine is effective in most patients. We describe the case of a 6 years-old girl with Noonan Syndrome and Autoimmune Hepatitis type 1. Molecular analysis of PTPN11 gene showed heterozygous mutation c.923A>G (Asn308Ser) in exon 8. Though association between NS and autoimmune disorders is known, this is the second case of association between Noonan Syndrome and Autoimmune Hepatitis type 1 described in literature. In the management of NS, an accurate clinical evaluation would be recommended. When there is a clinical suspicion of autoimmune phenomena, appropriate laboratory tests should be performed with the aim of clarifying whether the immune system is involved in NS. We think that autoimmunity represents a characteristic of NS, even if the etiopathogenesis is still unknown.