Puberty is a critical age for patients with Turner syndrome (TS): infertility is reported to be linked to karyotype and spontaneous puberty and menarche occur in approximately 30% of patients, especially in mosaicism. However, it is not always predictable considering hormonal pattern and pelvic transabdominal ultrasound scan (US). The aim of the study is to compare the accuracy of Magnetic Resonance Imaging (MRI) and US to evaluate uterine and gonads volume, to visualize the presence of follicles and to predict spontaneous puberty and menarche in girls with TS. In a retrospective study, we evaluated 19 TS patients (age: 9–16 years), who underwent transabdominal pelvic US and pelvic MRI as required by parents. We correlated pelvic imaging with karyotype, hormonal data and pubertal outcome, and we compared US resolution to MRI. MRI revealed a higher accuracy in the study of uterus and ovaries, and permitted to measure ovaries not visualized by US. Ovarian volume, the presence of follicles and the occurrence of spontaneous puberty were not related to the karyotype; spontaneous puberty started in one patient with a karyotype 45,X and in two patients with mosaicism (45,X/46,XX; 47,XXX/45, X). Ovarian follicles were relieved by MRI in patients with a spontaneous menarche and the persistence of menstrual cycles correlated with an ovarian volume corresponding to Tanner stage 3–4. We stress the role of MRI in the follow-up of TS adolescents, guide in the choice of the timing of treatment.
Background and aims: The incidence of CMPA in infancy seems to be approximately 3%. In Italy diagnosis of CMPA is often over estimated. The double-blind, placebo controlled food challenge(DBPCFC) is widely considered as the "gold standard" for the diagnosis of food allergy. Methods: 14 patients, (12 months-12 yrs) previously diagnosed as having CMPA, underwent our diagnostic algorithm in order to confirm or to exclude diagnosis. Diagnostic algorithm includes: total blood cell count, serum IgE assay, RAST, betalactotest, Prick by prick with fresh milk, chemical examination and eosinophilic cell count of the stools. DBPCFC was performed with extensively hydrolyzed formula (as placebo) VS a lactose-free, cow milk derived formula. At discharge a post challenge form was given to parents to record delayed symptoms that might occur at home. Results: 12 out of 14 patients had positive results for skin prick test (prick by prick) and four out of them also presented specific IgE against CMPs. 13 patients showed tolerance to CMP during and after DBPCFC and had no symptoms also in the next 72h. Only one patient, aged 30 months, had to keep CMP avoidance. Conclusion: In our survey DBPCFC demonstrated tolerance to CMP for all but one patients. DBPCFC is effective also to disconfirm diagnosis of CMPA. Skin prick tests and serological specific IgE do not always correlate with oral tolerance test. Subjects with positive skin prick test and high serological specific IgE against CMP but tolerant at DBPCFC may reintroduce cow milk proteins in to their dietary meals.
Background. Giardiasis is the most common protozoan infection, well known and largely widespread all over the world. Infants and younger children are susceptible to Giardia Intestinalis infection. This condition may be responsible of failure to thrive, malabsorption, diarrhoea and abdominal pain. Prevalence is highest in developing countries, but it is also increasing in the industrialized world because of foreign travels and immigration.
Introduction. Up to date IBDs include three different disorders: Crohn disease, ulcerative colitis and undetermined colitis. Takayasu arteritis is a granulomatous vasculitis involving aorta and its main vascular branches. This disorder is quite common in Japan and in the far east, especially in young female subjects. Its presentation in paediatric age is very rare and unusual.
Introduction. IBD way of presentation includes a large number of symptoms that may be gut related or, on the contrary, gut unrelated. Within the variety of clinical features we can find different underlying conditions. For this reason a differential diagnosis between functional (irritable bowel disease) and organic disorders (juvenile idiopathic artritis, vasculitidis, acute leukaemia or other neoplastic conditions, infectious disease, food intolerances) must be necessarily made. Up to date it is very difficult to make a distinction between one of the above-mentioned conditions and IBD without an invasive diagnostic algorithm.