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Torticollis is a pathological condition characterized by involuntary flexion of the neck to the affected side and contextually a rotation of the chin in the opposite direction. We present the case of a 7-year-old girl, admitted to the paediatric emergency department complaining of headache, laterocollis rotation, left torticollis and deviation of the head to the right, without history of trauma or systemic illness. Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) brain scans were performed, showing a subtentorial lesion, expanded into the left median and paravermian region, associated with hypertensive hydrocephalus. Histopathological analysis revealed a first-degree astrocytoma. The aim of this case report is to highlight the importance of tumors as the differential diagnosis of acquired torticollis in children.

Background: The monitoring of appropriateness, costs, and clinical outcomes of biological therapy in inflammatory bowel disease (IBD) is a relevant need. We aimed to evaluate all these issues in Sicily through a web based network of all prescribing centers. Methods: From January 2013, all IBD patients starting a biological agent (incident cases) or already on treatment (prevalent cases) were entered in a web based software. Herein we report data of incident cases about the efficacy of biological therapy after twelve weeks and one year of treatment. Results: From January 2013 to October 2016, 1475 patients were included. Incident cases were 1090. Considering that 16% of patients experienced more than one line of therapy, a total of 1351 treatments were reported. Adalimumab was used in 622 Crohn’s disease (CD) patients and in 83 ulcerative colitis (UC)/unclassified colitis patients. Infliximab was prescribed in 275 CD patients (80 biosimilars) and in 279 UC patients (50 biosimilars). Golimumab was used in 32 UC patients, while vedolizumab in 40 CD patients and in 20 UC patients. In patients with CD, after twelve weeks and one year of therapy, the rates of remission with adalimumab were 43.9% and 60.2%, respectively, and the rates of response 40.9% and 25.8%, while the rates of remission with infliximab originator were 46.2% and 50.0%, and the rates of response 40.9% and 32.9% (biosimilars: remission 31.0% and response 51.7% after 12 weeks; remission 45.5% and response 36.4% after one year). In UC, after twelve weeks and one year of therapy, the rates of remission with adalimumab were 43.3% and 57.1%, respectively, and the rates of response 36.7% and 19.0%; the rates of remission with infliximab originator were 41.6% and 48.4%, and the rates of response 35.6% and 32.3% (biosimilars: remission 30.0% and response 63.3% after 12 weeks; remission 20.0% and response 40.0% after one year); the rate of remission after 12 weeks of therapy with Golimumab was 22.2%, and the rate of response was 33.3%. After twelve weeks of therapy with Vedolizumab, 28.6% of CD patients were in remission and 32.0% had a response, while the rates of remission and response in UC patients were 33.3% and 22.0%, respectively. Multivariable logistic regression analysis showed that age >50 years was independently linked to lower rates of remission/response at 12 weeks in CD patients (OR 0.613, p=0.046). Conclusions: In one of the largest series of IBD patients on biological therapy reported to date, CD patients older than 50 years showed a higher rate of non response at 12 weeks of treatment. Efficacy of biosimilars was overall comparable to that reported for infliximab originator.

Background and aim: The monitoring of appropriateness and costs of biological therapy in Inflammatory bowel disease (IBD) is a relevant need. We aimed to evaluate appropriateness, efficacy and safety of biological therapy in IBD in Sicily through a web based network of prescribing centers. Material and methods: The Sicilian network for the monitoring of biological therapy in IBD is composed by a super Hub coordinator center and five Hub plus ten Spoke centers. From January 2013 all IBD patients starting a biological agent (incident cases) or already on treatment (prevalent cases) were entered in a web based software. Herein we report data on remission and response after twelve weeks of biological therapy, and side effects until the end of follow-up of incident cases. Results: From January 2013 to June 2016, 1475 patients were included. Complete data were available in 1338 cases (983 with Crohn’s disease [CD], 345 with ulcerative colitis [UC], and 10 with unclassified colitis). Incident cases were 956 (673 CD, 274 UC, and 9 unclassified colitis). Considering that 12% of patients experienced more than one line of therapy, a total of 1098 treatments were reported. Adalimumab was used in 543 CD patients, in 69 UC patients, and in 4 with unclassified colitis. Infliximab was prescribed in 221 CD patients (64 biosimilars), in 226 UC patients (41 biosimilars), and in 5 patients with unclassified colitis. Golimumab was prebscribed in 29 UC patients, and in 1 patient with unclassified colitis. After twelve weeks, the rate of response with Adalimumab was 46% and the rate of remission was 38% in CD, while the rate of response with Infliximab originator was 48% and the rate of remission 42% (biosimilars: 37% and 50%, respectively). In UC the rate of response with Adalimumab was 46% and the rate of remission was 38%, the rate of response with Infliximab was 41% and the rate of remission 45% (biosimilars: 25% and 64%, respectively), while the rate of response with Golimumab was 47% and the rate of remission was 27%. Overall, the rate of side effects was 17% (9.2% with Adalimumab, 20% with Infliximab originator, 15% with biosimilars, and 17% with Golimumab). Conclusions: In one of the largest series of IBD patients on biological therapy reported to date, the rates of remission and response after twelve weeks were comparable to data from literature, and similar between the different biologics. Efficacy and safety of biosimilars were analogous to those reported for infliximab originator.

Introduction: The monitoring of appropriateness, costs, and clinical outcomes of biological therapy in inflammatory bowel disease (IBD) is a relevant need. Aims & Methods: We aimed to evaluate all these issues in Sicily through a webbased network of all prescribing centers. The Sicilian Network for Inflammatory Bowel Disease (SN-IBD) is composed by a super Hub coordinator centre and five Hub plus ten Spoke centres. From January 2013, all IBD patients starting a biological agent (incident cases) or already on treatment (prevalent cases) were entered in a web based software. Herein we report data of incident cases about the efficacy of biological therapy after twelve weeks and one year of treatment. As clinical end-point, we set remission (corresponding to a Mayo Partial Score 52 for UC, and to a Harvey-Bradshaw Index 55 for CD), and response (reduction of Harvey-Bradshaw Index

There are not available data concerning the occurrence, the clinical features and the environmental risk factors for food intolerances and allergies in immigrant children. The aim of the study was to evaluate rates, distribution, clinical features and environmental risk factors for food intolerances and allergies in immigrant children. Hospital records of 4,130 patients with celiac disease (CD), cow milk protein intolerance (CMPI) and food allergies (FA) diagnosed in 24 Italian Centres from 1999 to 2001 were retrospectively reviewed, comparing immigrant patients with Italian ones. 78/4,130 (1.9%) patients were immigrant: 36/1,917 (1.9%) had CD, 24/1,370 (1.75%) CMPI and 18/843 (2.1%) FA. They were evenly distributed across Italy and their native areas were: East Europe (23/78), Northern Africa (23/78), Southern Asia (14/78), Saharan and Sub-Saharan Africa (9/78), Southern America (4/78), Far East (3/7), Middle East (2/78). Despite differences in their origin, the clinical features of immigrant children were similar to the ones of Italian patients and among each ethnic group. The majority of them were born in Italy (57/78) or have been residing in Italy since several years (19/78). All of them had lost dietary habits of the native countries and had acquired those of the Italian childhood population. Food intolerances and allergies are present also in children coming from developing countries, and paediatricians will need to have a full awareness of them because the number of immigrant children in Italy is quickly increasing. The clinical features of food intolerances and allergies appear the same in each ethnic group, despite differences in races. Sharing of dietary habits with the Italian childhood population seems to be an important environmental risk factor.

Background. There are no available data concerning the incidence and the clinical pattern of coeliac disease in immigrant children coming to Italy from developing countries. Aims. To evaluate the epidemiological and clinical features of coeliac immigrant children coming to Italy. Patients and methods. Hospital records of 1917 children diagnosed in 22 Italian Centres from 1999 to 2001 as having coeliac disease were retrospectively reviewed, comparing immigrant patients versus Italian ones. Results. 36/1917 (1.9%) coeliac children were immigrant. This prevalence was similar to that of the immigrant children among the whole paediatric population living in Italy. Prevalence was influenced by geographical factors, being higher in Northern Italy (1.7%) and in Central Italy (2.5%) than in Southern–Insular Italy (1.5%), as consequence of a higher proportion of immigrants in these regions. The native areas of the immigrant children were East Europe (15/36), Northern Africa (14/36), Southern Asia (4/36), West Africa (1/36), East Africa (1/36) and the Middle East (1/36). The clinical spectrum and dietary habits in immigrant patients were similar to those of the Italian children. Conclusions. Coeliac disease among the immigrant children coming from developing countries is an emerging problem, and physicians need to be fully aware of it. An important risk factor for coeliac disease in immigrant children appears to be sharing of the same dietary habits with the Italian population. The finding of coeliac disease in children coming from many countries worldwide suggests that coeliac disease is a global public health problem.

BACKGROUND: CDEUSSA is a Specific Support Action project from the Sixth Framework Programme Priority of the European Union (EU). Its aim is to bring together basic and applied research in the area of coeliac disease (CD). This paper reviews the main issues that are a result of the CDEUSSA initiative. AIM: To identify the major issues in need of investigation in the areas of clinical aspects, treatment, prevention and public health. METHODS: Key stakeholders, representing a wide range of knowledge with crucial importance for CD research and practice, have participated in two workshops aimed at identifying and proposing to the EU, as high priority research, topics in the areas of clinical aspects, treatment, prevention and public health. RESULTS: In public health, the overall goal should be to improve quality of life of the European population by implementing primary prevention strategies, early diagnosis and improved treatments for CD. New treatment strategies need to be developed. The option of primary prevention should be fully explored, which requires combined epidemiological, clinical and basic scientific research efforts. Such studies should also consider the importance of gene-environment interactions in the development of CD. Increased knowledge is needed on the natural history of CD. Diagnostic criteria need to be revised. CONCLUSIONS: To achieve these goals, a collaboration of the stakeholders is fundamental, including research and patient organizations, as well as industries within both diagnostics and food production.

Glycogenosis type II or Pompe disease is an inherited autosomal recessive disorder known in 3 different clinical forms (infantile, juvenile and adult). We report on a case diagnosed as a classic infantile form with the worst outcome of all 3 described, if we had followed and executed a correct and complete diagnostic pathway. A 7 months old female child was admitted for fever and dyspnoea. At chest auscultation weepings and weezings were found; on the cardiac apex a murmur due to mitralic failure was retrieved. The thorax X-ray showed a greatly increased heart shadow with a cardiothoracic index of 0.75. ECG showed high voltages and signs of bilateral ventricular hypertrophy. Cardiac ultrasonography confirmed the presence of a big heart with an enormous swollen left ventricle and a severe mitralic failure. The clinical diagnosis of infantile Pompe disease was confirmed by the almost total absence of cellular acid a-glucosidase activity but we couldn't perform the assay because of the rapid exitus of our patient, which occurred before glycogen storage disease II was suspected. So, we tried to compare our case with others reported in the literature in order to ratify our diagnostic hypothesis. The contribution of genetic counseling practiced on all the couples at risk remains useful every time that a certain diagnosis is made.