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IntroductionThrombotic events in neonates and children represent a rare although severe occurrence in view of the associated risk of mortality and sequelae. Quality evidence is limited in this field, and registry studies provide an essential base for research. The aim of this paper is to present the new Italian Registry of Infantile Thrombosis (RITI), set it into the scene of international thrombosis and stroke registries, and provide some insight on the challenges associated with registry management.MethodsWe present the detailed structure and content of the new RITI registry, a brief overview of its main data, and a reflection on its features, pitfalls and the main challenges related to its management.ResultsThe RITI, initially started in 2007 and officially re-launched in 2017 after structural modifications, is a non-interventional retrospective and prospective registry study collecting data on neonatal and pediatric patients (0–18 years) who experienced a systemic or cerebral thrombotic event in Italy. The RITI is managed by a multidisciplinary team with expertise in pediatric thrombosis, and participation is open to all Italian physicians, on a voluntary basis. The overall aim of the registry is to acquire new evidence to better characterize the population of children with thrombotic events and improve their management and outcome. 48 Italian pediatric and intensive care units are actively involved in the RITI, including 85 medical doctors from 16 Italian regions. A total of 1,001 neonates and children affected by cerebral or systemic thrombosis have been enrolled.DiscussionThe RITI is one of the largest available European registries of neonatal and pediatric thrombosis. National registries like the RITI represent a model for the study of rare conditions based on multidisciplinary and multicenter collaboration, aimed at overcoming the limitations due to small populations of patients, and creating a network of experts for patient referral and continuous education. Moreover, registry studies have a pivotal role in the research on pediatric thrombosis, due to the limited feasibility of high-quality studies. In our experience, the main critical stages, pitfalls and challenges in registry management include adequate registry designing, diffusion, data completeness and quality control.

The male sexual dysfunctions (MSD) can be causes of male sub-fertility (MSF), however in a restricted number of cases. Among MSD the two principal causes of MSF are the Erectile Dysfunctions (ED), in their variable gravity, even complete impotence and Ejaculation Dysfunctions: Premature Ejaculation (PE) and, on the opposite side, Delayed Ejaculation (DE). The mechanism with whom they induce MSF is common and basically represented by "Ipoposia", that is total or partial inability to have a normal sexual intercourse, ended by a valid intra-vaginal ejaculation. Therefore is mandatory to know the diagnostic and the therapy of these two pathologies for making the "couple", because it is an authentic "couple disease", in condition to have the best chances to obtain the maximum potential fertility rate. Diagnostic and therapy of ED: the erection is a complex neurovascular phenomenon that follows the release of nitric oxide (NO) as a result of sexual stimulation. In approximately 70% of the cases, the problems are of an organic nature. Half of the remaining 30% cases can be attributed to a mixture of organic and psychological causes, and the other half are due to purely psychological causes. The diagnostic procedure includes examinations of the case history, general and localised examination, and metabolic and hormonal screening. Level 2 includes the dynamic echo-colour-power Doppler test (ECD), and neurosexual evaluation. Recently, we also focused our attention on a study of the microcirculation in the penis. The diagnostic methods of documenting the alterations in this circulation are optic probe video-capillaroscopy (OPVC) and laser-Doppler testing (LDF). At therapeutic level, drugs administered through the trans-epidermal barrierTEB), appear to be effective in long term treatment (there is the problem of the movement through the tunica albuginea): we use "vasoactive patch" (troxerutine+ginkgo-biloba). Oxygen-ozone therapy (O2/O3) in the form of cycles of major self-transfusions acts directly on the erythrocytes, encouraging the release of 02 to the erection tissue even in the presence of minor angiopathy, with an effect on the haemo-rheological parameters. Still in the area of multi-points therapy it appears interesting to combine PDE5 inhibitors, at personalized dosage with 02/03. We evaluated 520 patients, affected with ED with consequent MSF, responder to PGE1-ICI, normal sexological counselling and normal laboratory testing. These patients were treated with combined 02/03 therapy, TEB complexation of Phosphatidyl-Coline-Troxerutine-Ginkgo-Biloba, first one week during two months, the latter t.i.d., topically for three months and pde5 inhibitors at personalized dosage(in relation to the number of sexual intercourses). Results and Conclusions: All the patients showed good clinical results, with improvement in the erection failure rate. From August 2009 to June 2010: examined 270 patients (age 20-45), affected with Ipoposia, causing MSF, related to the following diagnoses: 180 cases: (1) Primary PE dysfunction (lifelong); (2) Self-reported advanced strength of this kind of sexual disorder; (3) Distress; (4) Higher negative feedback of sexual activity of their sexual partners (distress); 20 cases: primary PE complicated by ED; 60 cases: Acquired PE involved by several psychological and ambiental dysfunctions or prosthatic diseases 10 cases of ED. PE:methods and Diagnostic Assessment: complete ambulatorial uro-andrological screening, counseling and anamnestic data compilation and physical examination. Spermiocolture. Endocrine Evaluation: LH, testosterone, fT, prolactin, T3, T4, TSH. Penis biothesiometry. PES, PEC. Viricare Test after PGE1 intra-cavernous vasoactive injection (ED and PE). Previous pharmacological treatments: SSRi- Paroxetine 20-40 mg, which was subministrated at the beginning chronically, and on demand in a following phase. All these patients required to interrupt this therapy wich was related to several collatheral effects Insurgence. Our purpose was the employment of Dapoxetine (Priligy-TM) 30 mg on demand, Dapoxetine (Priligy) 60 mg on demand (ante and per-portas severe PE). Patients report high advantage on IELT (Intercourse Endovaginal Latency Time) (among 3 times more). Patients indicates transformed kind of compliance and quality level life approaching sexual partner. The most important problem seems related to the therapy cost mostly in the youngest male population. We are performing and scheduling other observations about effectiveness and the security in drug taking. 5 cases of ED were treated successfully using Selegilina (Jumex™), at personalized dosage. [ABSTRACT FROM AUTHOR]

There have been reports that a number of patients with a chromosome 18pter deletion have developed autoimmune disorders, including juvenile diabetes, rheumatoid arthritis, thyroiditis and Graves' disease, and/or show little or no reduction in serum IgA levels. We describe two female patients bearing complex rearrangements involving chromosome 18p. Array-CGH and BAC FISH molecular cytogenetic analyses enabled the precise identification of the affected 18p region. One patient has a 2 Mb terminal deletion associated with a 9.2 Mb inverted duplication of the adjacent region; the other has a more extended 10.1 Mb terminal deletion associated with a 4.1 Mb quadruplication of the adjacent region and a 2.6 Mb duplication of the pericentromeric region. Both patients have dysmorphic features typical of 18p deletion syndrome, such as growth retardation, epicanthal folds, a long philtrum and toe defects, and are also affected by immunological disorders. One has a form of immunological deficiency that takes the form of recurrent pulmonary infections and low IgA levels; the other has an autoimmune form of juvenile rheumatoid arthritis. Relating the refined molecular cytogenetic characterisation of these 18p chromosomal rearrangements to the patients' specific clinical characteristics can improve our understanding of the role of the 18p region in immune responses., (Copyright 2010 Elsevier Masson SAS. All rights reserved.)

Intussusception is the most frequent cause of intestinal occlusion in children aged 3-5 years. Diagnosis is easy to perform in cases with typical clinical presentation. However diagnosis may be difficult in rare cases with atypical symptoms characterized by SNC involvement, that could delay a convenient treatment. We report 4 cases of intussusception presenting initially with consciousness abnormalities, hypotonia and vomiting. In these cases differential diagnosis with other conditions associated with comatose states has to be performed. Some hypothesis may be considered to explain these clinical pictures: 1. increased endorphins excretion during abdominal pain; 2. neurotoxins of bacterial origin released and absorbed by altered bowel; 3. intestinal hormones abnormally produced during the disease. As recommended by Rachmel, the condition should be suspected in all children presenting with the association of vomiting and lethargy and a radiological or tomographic study of abdomen should be performed also in cases without intussusception typical symptoms.

Migraine is a variant of headache often associated with neurologic and/or vegetative symptoms mainly represented by abdominal pain. This symptom may occur some hours before migraine manifestation and in these cases the differential diagnosis with other clinical conditions characterized by abdominal pain, which is very common during childhood, may be difficult. Abdominal migraine can be diagnosed only if a close relationship is demonstrated between the abdominal symptoms and migraine. Alteration of consciousness is a well known feature during migraine and in some cases EEG may show SNC involvement during the attack. We report a case of abdominal migraine attack evaluated by EEG. The patient, a 10 years old male, presented with a picture of acute abdomen. An EEG performed at the occurrence of the early headache symptoms and of consciousness alteration demonstrated a pattern characterized by a lowering in the electric activity on the left hemisphere. Some hours later he developed a clear migraine followed by disappearance of the abdominal symptoms. This observation confirms the possible association of migraine with a picture simulating an acute abdomen and suggests that the differential diagnosis with a true surgical condition may be achieved by the observation of the progression of symptoms and by early evaluation of patient with EEG.

The authors describe one case of partial 9q trisomy they observed. The malformations they observed are correspondent to the very little amount of existing documented cases. And just because we have only a few observations, we thought useful publishing this case, to better define the clinical features among the alterations of chromosome 9 (trisomy 9 p and 9q). Head, neck, bones, heart and urogenital apparatus seen to be the most frequently involved in the phenotypic expression of the 9q trisomy.

As no similar study has been conducted in Italy, the Local Health District (USL) of Rozzano (Milano), decided to carry on a randomized controlled trial on the efficacy of a Smoking Prevention Program. In this article we describe study protocol and give data related to program steps already carried out. A team of four MDs involved in school health and a Health Research consultant were in charge for the study. 1013 students from the second class of the secondary school (12y age) were stratified into four subgroups, according to their risk of becoming a smoker and their teachers smoking status. They were subsequently randomized (with blocking) to two groups: the smoking prevention (which was based on the Waterloo Smoking Program) and the cardiovascular risk prevention (based on an ad hoc program by the USL) which was the control group. Both interventions consisted in six weekly lessons which were delivered in 37 classrooms (777 students or 61% of all the eligible student population, 72% of randomized students) by an equal number of teacher who voluntarily joined the program, during school hours. A larger number of teachers (53) formerly joined the program but not all accomplished it. Problems with program planning and delivering are described, together with the criteria which guided this approach.

A case series of 226 male patients, aged between 19 and 65 years, in whom a "venous-leakage" was probably the cause of impotence is reported. The Authors describe the complex diagnostic iter, the principles of medical and surgical treatments and the results. Finally the clinical conditions considered essentially proposing a surgical treatment are announced.