http://www.ijponline.net The latest research articles published by Italian Journal of Pediatrics 2010-03-10T00:00:00Z 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/ Background: Evaluation of thyroid function in neonates born from mother affected by autoimmune thyroiditis in order to define if a precise follow-up is necessary for these children. The influence of maternal thyroid peroxidase antibody (TPOAb) and L-thyroxine therapy during pregnancy on neonatal thyroid function was also investigated. Methods: 129 neonates were tested for thyroid function by measurement of free thyroxine (FT4) and thyroid stimulating hormone (TSH) in 3th day, 15th day and at one month of life. TPOAb were measured in all patients; periodical control of thyroid function were performed until 6 months of life if Ab were positive. Data concerning etiology of maternal hypothyroidism and maternal replacement therapy with L-thyroxine during pregnancy were retrospectively collected. Results: 28% neonates showed at least a mild increase of TSH value at the different determinations. In the majority of them, a spontaneous completely normalisation of TSH value was observed within the first month life. L-thyroxine replacement therapy was started in 3 neonates. TPOAb titer and maternal L-thyroxine replacement therapy were not related to alteration of thyroid hormone function in our study population. Conclusions: Transient mild elevation of serum TSH above the normal reference value for age is frequently observed in the first month of life in infants born from mother affected by autoimmune thyroiditis. Persistent hyperthyrotropinemia requiring replacement therapy is observed in 2.2% of these neonates. According to our experience, follow-up is recommended in these newborns; the most accurate and not invasive way to careful monitor these infants after neonatal screening for CH seems to be serum-testing TSH between 2 nd and 4 th week of life. http://www.ijponline.net/content/36/1/24 Rosanna Rovelli Maria Cristina Vigone Chiara Giovanettoni Arianna Passoni Ludovica Maina Andrea Corrias Carlo Corbetta Fabio Mosca Giuseppe Chiumello Giovanna Weber Italian Journal of Pediatrics 2010, 36:24 2010-03-10T00:00:00Z doi:10.1186/1824-7288-36-24 Italian Journal of Pediatrics 1824-7288 36 24 2010-03-10T00:00:00Z PDF A male infant born by caesarean section at 38 weeks of gestational age (B.W. 4055g; Apgar 9-10), in the first two hours of life his right leg became hypovascularizated.Normal values of leukocities, red cells, haematocrit, hemoglobin, platelets. C-Reactive Protein negative. Electrolytes and coagulation tests were normal. Normal vitamin K coagulation proteins levels. Serological tests for TORCH (IgM) and Parvovirus (IgG and IgM) were negative.Sonography showed a reduced blood flow in the iliac artery and reported a 1 cm long vessel thrombosis.From 8 hours of life we administred an intravenous infusion of unfractionated heparin (UFH) 75 UI/Kg for the first 10 minutes then 28 UI/Kg/h.On the 2nd day tests were performed to assess absence of inhibiting-clot factors. The dosage of homocysteine, protein S and antithrombin was normal. FV Leiden and antiphospholipid antibodies were negative. The mapping of G20210A prothrombin's gene resulted normal, whereas the concentration of Protein C was lower than normal: activity 46% (68-150%), antigen 35% (70-150%).The same deficiency was also found in the father. The mother showed normal concentrations. No episodies of thrombosis events were documentated in the family.The intravenous unfractionated heparin (UFH) therapy was replaced after 64 hours by subcutaneous nadroparin 600 UI twice/day, which was stopped 5 days later when the vessel sonografic images were completely normal. During the hospitalization the infant didn't show bleeding.The child was followed-up yearly until 4 years of age: he was well and had a normal body and mental development.The final diagnosis is likely to be of a permanent protein C deficiency in heterozygous form. Our case is interesting because the first manifestation was an important thrombosis of large vessel that occurred within a few hours of life in absence of perinatal risk factors, as if it was a homozygous disease, but the patient had a heterozygotic form. In literature few cases are reported of heterozygous forms that became symptomatic, but only in old age.After a severe first manifestation, a normal and asymptomatic development is uncommon without new thrombotic episodes. In our patient the neonatal thrombosis was the sole event in his life. http://www.ijponline.net/content/36/1/23 Elisabetta Tridapalli Marcello Stella Maria Capretti Giacomo Faldella Italian Journal of Pediatrics 2010, 36:23 2010-03-08T00:00:00Z doi:10.1186/1824-7288-36-23 Italian Journal of Pediatrics 1824-7288 36 23 2010-03-08T00:00:00Z PDF 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 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 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 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 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 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 Background: Celiac disease (CD) emerged as a public health problem, and the disease prevalence varies among different races. The present study was designed to investigate the prevalence of CD using serological markers in apparently healthy schoolchildren in Irbid City, Jordan. Additionally, the effect of positive serology on height, weight and body mass index (BMI) was evaluated. Methods: The study population consisted of 1985 children (1117 girls and 868 boys), age range was 5.5 to 9.5 years. Height and weight were measured and blood samples were collected from each individual. Serum samples were analyzed for IgA anti-tissue transglutaminase antibodies (tTG) using a commercial enzyme-linked immunosorbent assay (ELISA). tTG positive samples were further analyzed for IgA anti-endomysium antibodies (EmA) with a commercial ELISA. Samples confirmed positive with EmA were considered seropositive. Results: Sixteen children were CD positive. The serological prevalence was estimated to be 1:124 (0.8%; 95% CI, 0.5% to 1.3%). Significant impact on growth (height) was found in seropositive children. When both sexes were individually analyzed, only boys showed height reduction. Furthermore, seropositive boys also had a significant weight reduction. Conclusion: This study demonstrated that CD is prevalent among schoolchildren in Jordan. The seropositive children tend to have lower height, weight, and BMI than the seronegative group. These differences were significant only for boys. None of the participants is known to have CD prior to the study. http://www.ijponline.net/content/36/1/16 Mohamad Nusier Hedda Brodtkorb Siv Rein Ahmed Odeh Abdelrahman Radaideh Helge Klungland Italian Journal of Pediatrics 2010, 36:16 2010-02-09T00:00:00Z doi:10.1186/1824-7288-36-16 Italian Journal of Pediatrics 1824-7288 36 16 2010-02-09T00:00:00Z XML 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