X-linked hypophosphatemic rickets: An Italian experts' opinion survey

Background X-linked hypophosphatemic rickets (XLH) is the first cause of inherited hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive expression of the phosphaturic factor FGF23. Symptoms are mainly related to rickets in children and osteomalacia in adults and cause several complications that can be highly invalidating. Due to its rarity, XLH is poorly known and diagnosis is frequently delayed. Conventional treatment is based on oral phosphate salts supplementation and activated vitamin D analogs, which however, cannot cure the disease in most cases. Objective Due to the low prevalence of XLH, an experts\u2019 opinion survey was conducted across Italian centers to collect data on XLH and on its management. Methods A questionnaire was developed by a group of experts to collect data on XLH epidemiology, diagnosis and treatment in Italy. Results Data from 10 Italian centers (nine of which pediatric) on 175 patients, followed between 1998 and 2017, were included in the survey. Most patients were followed since childhood and 63 children became adults during the investigated period. The diagnosis was made before the age of 1 and between 1 and 5\u2009years in 11 and 50% of cases, respectively. Clinically apparent bone deformities were present in 95% of patients. These were ranked moderate/severe in 75% of subjects and caused growth stunting in 67% of patients. Other frequent complications included bone pain (40%), dental abscesses (33%), and dental malpositions (53%). Treatment protocols varied substantially among centers. Nephrocalcinosis was observed in 34% of patients. Tertiary hyperparathyroidism developed in 6% of patients. Conclusions XLH remains a severe condition with significant morbidities

X-linked hypophosphatemic rickets: An Italian experts' opinion survey

Background: X-linked hypophosphatemic rickets (XLH) is the first cause of inherited hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive expression of the phosphaturic factor FGF23. Symptoms are mainly related to rickets in children and osteomalacia in adults and cause several complications that can be highly invalidating. Due to its rarity, XLH is poorly known and diagnosis is frequently delayed. Conventional treatment is based on oral phosphate salts supplementation and activated vitamin D analogs, which however, cannot cure the disease in most cases. Objective: Due to the low prevalence of XLH, an experts' opinion survey was conducted across Italian centers to collect data on XLH and on its management. Methods: A questionnaire was developed by a group of experts to collect data on XLH epidemiology, diagnosis and treatment in Italy. Results: Data from 10 Italian centers (nine of which pediatric) on 175 patients, followed between 1998 and 2017, were included in the survey. Most patients were followed since childhood and 63 children became adults during the investigated period. The diagnosis was made before the age of 1 and between 1 and 5 years in 11 and 50% of cases, respectively. Clinically apparent bone deformities were present in 95% of patients. These were ranked moderate/severe in 75% of subjects and caused growth stunting in 67% of patients. Other frequent complications included bone pain (40%), dental abscesses (33%), and dental malpositions (53%). Treatment protocols varied substantially among centers. Nephrocalcinosis was observed in 34% of patients. Tertiary hyperparathyroidism developed in 6% of patients. Conclusions: XLH remains a severe condition with significant morbidities

Decreased NT-3 plasma levels and platelet serotonin content in patients with hypochondriasis

OBJECTIVE: Neurotrophins (NT) are a family of closely related proteins, including brain-derived neurotrophic factor, nerve growth factor, neurotrophin-3 (NT-3), and neurotrophin-4/5 (NT-4/5). NTs are deemed to regulate several aspects of neuronal survival, development, and function. Although NTs have been associated to a variety of mental disorders, the potential role of NT alterations in hypochondriasis (HC) has never been investigated. METHODS: In the present study, plasma concentrations of NTs were evaluated in 23 adult patients meeting Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision criteria for HC and 22 healthy controls. Platelet serotonin (5-HT) content was chosen as a measure of serotonergic function. Hypochondriacal symptoms were assessed using the Whiteley Index of Hypochondriasis (WIH). RESULTS: Plasma NT-3 level (P=.004) and platelet 5-HT (P=.008) were significantly lower in patients with HC compared with controls. Correlation analyses showed that the WIH score was significantly and inversely associated with both NT-3 values (r=-.60, P=.002) and platelet serotonin content (r=-.53, P=.009). We used a multivariate regression model to determine independent predictors of the WIH score. After allowance for potential confounders, plasma NT-3 levels remained the unique independent predictor of the WIH (beta=.003, t=-3.5, P=.003). CONCLUSIONS: Decreased NT-3 concentration, alongside with serotonin dysfunction, may represent a biological correlate of HC

PGI47 Cohort Of Hcv Patients In Italy: Sizing And Treatments In A Sample Of Italian Hepatology Centers

Objectives The aim of this study is to give an overview of the treatment available for the patients with Hepatitis C Virus (HCV) through the segmentation of HCV patients in Italy. Methods The study was carried out in 9 hepatology centers, treating HCV patients in 9 Italian Regions. The structures selected constitute a representative sample of the Italian scenario, being Centers of Excellence in HCV management in northern, southern, and center of Italy (representing about 24% of the 2.000 patients treated with first generation Triple Therapy in Italy according to AIFA Data). The patients\u2019 distribution has been investigated in terms of fibrosis stage (F0 to F4), therapy type (Triple, TT, or Double therapy, DT) and treatment status (naive or experienced patients). Results Data (collected from structures and Workshop of Pharmacoeconomics in Hepatology) show that HCV patients are more concentrated in the two fibrosis stage extremes: 43% in F0-F1 Range, 23% in F2,32% in F3-F4 Range and 2% unclassified. Data about drug administration demonstrate that, at national level, patients are equally distributed between therapy type (56% TT and 44% DT) and treatment status (49% naive and 51% experienced). On the contrary, at Regional level many differences were found in all of the three parameters examined. In the structure investigated in Campania, for example, 72% of patients receive TT and 76% are experienced, while in Lazio 72% of patients receive DT and 72% are naive. Furthermore, considering the fibrosis stage, the 46% of patients treated in a center operating in Bari is in the range F3-F4, whilst in the center in Milan the 56% of the HCV patients treated is in range F0-F1. Conclusions The study demonstrate that, concerning the treatment of HCV, there are significant differences among the hepatology centers, both in terms of patients\u2019 health status and therapy pathways

THROMBOPHILIC SCREENING IN TURNER SYNDROME.

Aim: The aim of this study was to determine, in patients with Turner syndrome (TS), the prevalence of thrombophilic disorders correlating with a higher risk of venous thromboembolism (VTE), to evaluate if thrombophilia is associated with the genetic features of these patients and whether screening before hormone replacement therapy (HRT) is advisable. Patients and methods: We examined 82 TS patients. In all patients we analyzed activated factor VIII:C, fibrinogen, antithrombin (AT), protein C (PC), protein S (PS), activated PC resistance, and homocysteine. For every patient, an investigation for mutations in prothrombin G20210A, factor V R506Q, methylenetetrahydropholate reductase (MTHFR) C 677T and A1298C was conducted. Results: Low values of PC in 3 patients (3.70%), low values of PS in 12 (14.81%), and hyperhomocysteinemia in 4 (4.87%) were found; 52 girls (64.2%) presented hyperfibrinogenemia. Three patients were heterozygous for the prothrombin G20210A allele mutation (3.66%) and the factor V mutation was present in 4 patients (4.88%). No TS patient had a homozygous mutation. Mutations in the MTHFR gene were present in 62 girls, in 17 patients (20.7%) they were homozygous and in 45 patients (54.88%) heterozygous. Conclusions: Considering the increased risks with the association between VTE and the higher prevalence of PC and PS deficiencies, TT genotype mutations and high level of fibrinogen, it is advisable to perform a complete thrombophilia screening in TS patients before starting HRT. ©2011, Editrice Kurti

A Systematic Review and Meta-Analysis of Ginkgo biloba in Neuropsychiatric Disorders: From Ancient Tradition to Modern-Day Medicine

Ginkgo biloba (Gb) has demonstrated antioxidant and vasoactive properties as well as clinical benefits in several conditions such as ischemia, epilepsy, and peripheral nerve damage. Additionally, Gb is supposed to act as potential cognitive enhancer in dementia. So far, several trials have been conducted to investigate the potential effectiveness of Gb in neuropsychiatric conditions. However, the results of these studies remain controversial. We conducted a systematic review and a meta-analysis of three randomised controlled trials in patients with schizophrenia and eight randomised controlled trials in patients with dementia. Gb treatment reduced positive symptoms in patients with schizophrenia and improved cognitive function and activities of daily living in patients with dementia. No effect of Gb on negative symptoms in schizophrenic patients was found. The general lack of evidence prevents drawing conclusions regarding Gb effectiveness in other neuropsychiatric conditions (i.e., autism, depression, anxiety, attention-deficit hyperactivity disorder, and addiction). Our data support the use of Gb in patients with dementia and as an adjunctive therapy in schizophrenic patients