http://www.ijponline.net The most accessed research articles published by Italian Journal of Pediatrics 2010-03-04T00:00:00Z This is an RSS newsfeed from BioMed Central It is intended to be used with an RSS reader. For more information about RSS newsfeeds from BioMed Central, visit http://www.biomedcentral.com/info/about/rss/ Mental retardation is a heterogeneous condition, affecting 1-3% of general population. In the last few years, several emerging clinical entities have been described, due to the advent of newest genetic techniques, such as array Comparative Genomic Hybridization. The detection of cryptic microdeletion/microduplication abnormalities has allowed genotype-phenotype correlations, delineating recognizable syndromic conditions that are herein reviewed. With the aim to provide to Paediatricians a combined clinical and genetic approach to the child with cognitive impairment, a practical diagnostic algorithm is also illustrated. The use of microarray platforms has further reduced the percentage of "idiopathic" forms of mental retardation, previously accounted for about half of total cases. We discussed the putative pathways at the basis of remaining "pure idiopathic" forms of mental retardation, highlighting possible environmental and epigenetic mechanisms as causes of altered cognition. http://www.ijponline.net/content/36/1/17 Cinzia Galasso Adriana Lo Castro Nadia El-Malhany Paolo Curatolo Italian Journal of Pediatrics 2010, 36:17 2010-02-14T00:00:00Z doi:10.1186/1824-7288-36-17 Italian Journal of Pediatrics 1824-7288 36 17 2010-02-14T00:00:00Z PDF Doping with endocrine drugs is quite prevalent in amateur and professional athletes. The World Anti-Doping Agency (WADA) has a list of banned drugs for athletes who compete and a strategy to detect such drugs. Some are relatively easy, anabolic steroids and erythropoietin, and others more difficult, human growth hormone (rhGH) and insulin like growth factor I (IGF-I). The use of such compounds is likely less in adolescent athletes, but the detection that much more difficult given that the baseline secretion of the endogenous hormone is shifting during pubertal development with the greatest rise in testosterone in boys occuring about the time of peak height velocity and maximal secretion of hGH and IGF-I.This review notes the rationale, physiology, performance enhancement, adverse events and the detection of doping with insulin, rhGH, rhIGF-I, erythropoietin, and anabolic-androgenic steroids. http://www.ijponline.net/content/36/1/19 Alan Rogol Italian Journal of Pediatrics 2010, 36:19 2010-02-18T00:00:00Z doi:10.1186/1824-7288-36-19 Italian Journal of Pediatrics 1824-7288 36 19 2010-02-18T00:00:00Z XML Classical Poland Syndrome (PS) is characterized by unilateral, partial or complete absence of the sternocostal head of the major pectoral muscle and brachysyndactyly of fingers on the same side. We report the case of a newborn infant with dextrocardia and PS located on the left side. This association is very rare: to date only 19 cases have been described in scientific literature. In all reported cases, as in the present, the Poland defect involved the left side and was associated to rib defects, whereas most cases of PS are on the right side and few have rib defects. This case supports the view that dextrocardia follows the loss of volume of the left hemithorax caused by Poland sequence and that the combination of PS and dextrocardia is not coincidental. http://www.ijponline.net/content/36/1/21 Doriana Lacorte Maria Marsella Pietro Guerrini Italian Journal of Pediatrics 2010, 36:21 2010-02-20T00:00:00Z doi:10.1186/1824-7288-36-21 Italian Journal of Pediatrics 1824-7288 36 21 2010-02-20T00:00:00Z PDF This epileptic disorder has become a classic topic for neuropediatricians and the interest is documented by the large number of publications on this subject.The relative frequency among the epileptic syndromes is an another reason why not only neuropediatricians but also general pediatricians must be fully informed about diagnostic, clinical, imaging and genetic aspects.Early diagnosis is of paramount importance in order to obtain even complete results in patients with so called idiopathic situations. A number of problems are still to be solved. There is no agreement on the type and the schedule of treatment. A common denominator about this problem is not jet available even if some advances in this regard have been accomplished. Of paramount importance is an accurate clinical and laboratory examination as a prerequisite regarding prognosis and results of therapy in every single case.However, even if more than 170 years have elapsed since the first communication of dr. West on the peculiar syndrome that his child was suffering of, the interest of scientists on this subject has now been enriched and rewarded. http://www.ijponline.net/content/36/1/15 Alberto Fois Italian Journal of Pediatrics 2010, 36:15 2010-02-08T00:00:00Z doi:10.1186/1824-7288-36-15 Italian Journal of Pediatrics 1824-7288 36 15 2010-02-08T00:00:00Z XML A joint study group on cow's milk allergy was convened by the Emilia-Romagna Working Group for Paediatric Allergy and by the Emilia-Romagna Working Group for Paediatric Gastroenterology to focus best practice for diagnosis, management and follow-up of cow's milk allergy in children and to offer a common approach for allergologists, gastroenterologists, general paediatricians and primary care physicians.The report prepared by the study group was discussed by members of Working Groups who met three times in Italy. This guide is the result of a consensus reached in the following areas. Cow's milk allergy should be suspected in children who have immediate symptoms such as acute urticaria/angioedema, wheezing, rhinitis, dry cough, vomiting, laryngeal edema, acute asthma with severe respiratory distress, anaphylaxis. Late reactions due to cow's milk allergy are atopic dermatitis, chronic diarrhoea, blood in the stools, iron deficiency anaemia, gastroesophageal reflux disease, constipation, chronic vomiting, colic, poor growth (food refusal), enterocolitis syndrome, protein-losing enteropathy with hypoalbuminemia, eosinophilic oesophagogastroenteropathy. An overview of acceptable means for diagnosis is included. According to symptoms and infant diet, three different algorithms for diagnosis and follow-up have been suggested. http://www.ijponline.net/content/36/1/5 Carlo Caffarelli Francesco Baldi Barbara Bendandi Luigi Calzone Miris Marani Pamela Pasquinelli On behalf of Ewgpag Italian Journal of Pediatrics 2010, 36:5 2010-01-15T00:00:00Z doi:10.1186/1824-7288-36-5 Italian Journal of Pediatrics 1824-7288 36 5 2010-01-15T00:00:00Z XML We focus on themes that are derived from clinical practice and research in the field of genetic diseases of bone and inborn errors of metabolism but may be of more general interest as they indicate some trends in molecular medicine as related to pediatrics. Identifying the disease-causing mechanism brings about efficient therapeutic strategies and discovering the mutant genotype in the near future may become helpful for devising custom-built molecular responses. At the same time, the transition of therapy from the experimental phase to industrial application is difficult as there may be novel roles (and potentially conflicting interests) between physicians, patient organisations, governmental agencies and the pharmaceutical industry. Awareness of these potential conflicts may help in recognizing and dealing with these issues. http://www.ijponline.net/content/36/1/20 Andrea Superti-Furga Livia Garavelli Italian Journal of Pediatrics 2010, 36:20 2010-02-19T00:00:00Z doi:10.1186/1824-7288-36-20 Italian Journal of Pediatrics 1824-7288 36 20 2010-02-19T00:00:00Z PDF There is a high frequency of diarrhea and vomiting in childhood. As a consequence the focus of the present review is to recognize the different body fluid compartments, to clinically assess the degree of dehydration, to know how the equilibrium between extracellular fluid and intracellular fluid is maintained, to calculate the effective blood osmolality and discuss both parenteral fluid requirments and repair. http://www.ijponline.net/content/35/1/36 Mario Bianchetti Giacomo Simonetti Alberto Bettinelli Italian Journal of Pediatrics 2009, 35:36 2009-11-19T00:00:00Z doi:10.1186/1824-7288-35-36 Italian Journal of Pediatrics 1824-7288 35 36 2009-11-19T00:00:00Z XML AimTo study the effect of weaning biscuits supplementation of the nutritional parameters and cognitive performance of the selected children. Methods: Three primary schools situated in Salem District, Tamilnadu, India were selected. A total number of 150 school children, 61 from primary school I, 46 from primary school II and 43 from primary school III comprised the study sample. About 80 primary school children with Grade II malnutrition were selected for the experimental study. Home diet without any supplementation was followed by Group I (n = 20, control group), potato flour biscuit was supplemented to Group II (n = 20), wheat biscuits was given to Group III (n = 20) and ragi biscuits were given to Group IV (n = 20) for the period of 3 months. Parameters like anthropometric measurements, hemoglobin content clinical picture and cognitive performance were analyzed before and after supplementation. Results: Results about Group I (control group) showed no significant difference in height, weight and clinical picture and cognitive performance after three months on their home diet. In Group II, III and IV significant increase in all the above parameters was noticed. More increase was found in Group II children supplemented with potato flour biscuits for a period of 3 months. About cognitive performance better results was obtained in Group II followed by Group III (supplemented with wheat biscuits) and Group IV (supplemented with ragi biscuits). Least was obtained by control group children who are in their home diet. Conclusion: All these observations evident that if such weaning biscuits made with potato flour, wheat and Ragi can form a daily ingredient in their diets, it will bring out better all round development of the children. http://www.ijponline.net/content/36/1/18 Peerkhan Nazni Subramanian Pradheepa Abul Hasan Italian Journal of Pediatrics 2010, 36:18 2010-02-18T00:00:00Z doi:10.1186/1824-7288-36-18 Italian Journal of Pediatrics 1824-7288 36 18 2010-02-18T00:00:00Z XML Dr. Angelo M. DiGeorge a world renowned physician and pediatric endocrinologist, died at age of 88 years, on October 11, 2009 of kidney failure at his home in Philadelphia. http://www.ijponline.net/content/36/1/22 Luigi Tarani Maria Digilio Bruno Dallapiccola Donna Mc Donald-McGinn Bruno Marino Italian Journal of Pediatrics 2010, 36:22 2010-03-04T00:00:00Z doi:10.1186/1824-7288-36-22 Italian Journal of Pediatrics 1824-7288 36 22 2010-03-04T00:00:00Z PDF Background: A number of studies have shown that current classification systems (ICD 10, DSM IV TR) have limitation when applied to autistic children and the category PDD NOS (DSM IV TR) has in particular been criticized. To check the possible usefulness of other classification systems to better describe patient's functioning, we retrospectively studied 84 patients, seen consecutively in our Child Neurology and Psychiatry Department (excluding only those presenting for another disease even if with clinical signs of a PDD). Methods: We tried to classify them according to ICD 10, DSM IV TR, CFTMEA-R, "operational classification" (Manzano and Palacio) and de Ajuriaguerra's classification. Results: We found a good correspondence between DSM IV TR and ICD 10 and the use of psychodynamic classification systems (in particular CFTMEA-R) was useful to differentiate clinical subtypes collected under the PDD NOS etiquette according to DSM IV TR. Conclusions: To rationalize research efforts and find better tailored therapies, we need to improve PDD classification systems, using contributions coming from every field of child psychiatry and neurology: it's possible that 0-3 Classification could help this. http://www.ijponline.net/content/36/1/10 Matteo Chiappedi Giorgio Rossi Maura Rossi Maurizio Bejor Umberto Balottin Italian Journal of Pediatrics 2010, 36:10 2010-01-29T00:00:00Z doi:10.1186/1824-7288-36-10 Italian Journal of Pediatrics 1824-7288 36 10 2010-01-29T00:00:00Z XML