Acanthosis nigricans in adolescents: a practical approach.

Acanthosis nigricans (AN) is a lesion affecting localized areas of the skin in persons with obesity and/or hyperinsulinemia. Biochemical mechanisms responsible for developing this hyperplastic lesion are unclear, but likely involve local cutaneous growth factors. It is associated with obesity, endocrinopathies (insulin resistance, diabetes mellitus, Cushing disease and acromegaly) and visceral malignancies. Clinicians should recognize AN because it may herald disorders ranging from endocrine disturbances to malignancy. Early recognition of these conditions is essential to identify children who are at highest risk for developing type 2 diabetes and further metabolic abnormalities.

Adolescent health care in Italy: a mini-review.

The purpose of this mini-review is to present the National Health System and services available for adolescents in Italy, and to review the most relevant data on morbidity and mortality in Italian teens. Adolescent medicine in Italy is not a separate speciality, but there are some distinct services for adolescents in paediatric departments or gynaecologic wards, mostly in large cities where university hospitals or hospital of national relevance are located. Primary health care in Italy is provided mainly by general practitioners (GPs) and pediatricians, and on-call physicians (Guardia Medica) for after-hours medical care and services. The number of centres providing care for adolescents in Italy is 4097 (50% of these are in the North of Italy, 20% in the Central regions and 20% in the South and Islands). The population of Italy on January 1st 2011 was approximately 60,477,881 and the number of adolescents, aged 10 to 19 years, was 6,214,000. The most frequent causes of death in adolescents are motor vehicle accidents - more than half of which are related to drug or alcohol use - followed by cancer and suicide. In primary care, adolescents present with a large number of issues, particularly upper respiratory infections, musculoskeletal problems, pain syndromes, obesity, eating disorders, dermatological issues, mood and somatoform disorders, school and mental health problems, and chronic fatigue, many of which require a coordinated, multidisciplinary management approach. The estimated population with a chronic illness is 8%. There are no specific protocols for the transition to adult medicine physicians for patients with chronic diseases or special health needs. In order to improve the quality and quantity of education in adolescent health for paediatricians and GPs, the Study Group of Emilia and Romagna Region for Adolescent Health Care (SGA-ER) is going to organize, beginning in 2012, a two year educational intervention course in adolescent health.

The SGA-ER educational intervention in adolescent health care for Italian physicians: goals, content and instructional design.

Adolescent medicine is a field dedicated to helping young people grow and thrive, in relation to their particular stage of development. In Italy, adolescent medicine is not a distinct speciality, but it is practised in some services for adolescents in paediatric departments. Increasing educational opportunities in adolescent health may help to accelerate the development and dissemination of new and improved therapeutic approaches for serving youth and also attract a larger cadre of physicians. Other pediatric subspecialties, e.g. oncology, rheumatology and adolescent psychiatry, have developed successfully and may represent excellent models for adolescent medicine specialists to emulate. The Adolescent Health Study Group of the Emilia and Romagna Region (SGA-ER) was established in 2010 in an effort to generate strategies and possible solutions to improve the quality and quantity of knowledge in adolescent health care for pediatricians and GPs. Several methods and approaches have been implemented to improve physicians' skills in adolescent health care. The authors report the goals, content and instructional design of an educational course in adolescent medicine. Alliances with other adolescent health groups may provide an additional opportunity for networking, interaction and exchange of ideas amongst professionals.

ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy.

Skeletal dysplasias (SKD) are genetic disorders that result in the abnormal development of part or all of the skeleton and are commonly associated with short stature. The most common SKDs that typically result in short stature include achondroplasia/hypochondroplasia (HCH) both caused by different mutations in the same gene. HCH diagnosis is based on the clinical appearance during development and conventional X-ray findings. In about 70% of patients, missense mutations in the gene coding for the fibroblast Growth Factor Receptor 3 (FGFR3) affects the amino acid at position 540, mostly resulting in the amino acid exchange N540K.Subjects with HCH, heterozygous for the N540K substitution are significantly more disproportionate than individuals without this mutation. We report the clinical and radiographic features of an Italian family with HCH with an unusual N540S mutation, inside the common mutation hot spot of this condition. This is the first case reported in Italy and the third in the literature. During a 7-years-follow-up, the boy started the puberty at the age of 11.3 years and the growth spurt was observed between 13.7 and 14.9 years (+ 9.1 cm.).During pubertal development the sitting height (SDS) improved from - 1.5 to - 0.6 and the subischial leg length (SDS) progressed from - 2.6 to - 3.3.At the age of 16.7 year the standing height was 157.6 cm ( - 2.4 SDS), testicular volume was 15 ml and bone age 16.5 year. The present study and the other two cases reported in the literature stress the important role of the asn 540 site in the tyrosine kinase I domain in the pathogenesis of HCH and underline the importance that, in patients with HCH who do not have the common N540K mutation, sequence analysis of the tyrosine kinase I domain of FGFR3 should be performed to exclude other changes in that region.

[Chronic persistent HBsAG positive hepatitis in children. I. Subpopulations of T and B lymphocytes]. / Epatite cronica persistente HBsAg positiva in eta' pediatrica. Nota I. Sottopopolazioni linfocitarie T e B.

T and B peripheral blood lymphocytes were studied in five children affected by chronic persistent hepatitis HBsAg-positive. The percentage of E rosette forming cells was found decreased while thymidine uptake after Phytohaemagglutinin stimulation reached values higher than that of normal controls. Null cells were found increased. In all the patients the percentage of IgG bearing lymphocytes was markedly decreased. Such alterations of T cells compartement are similar to those found by other authors in the aggressive form. The hypothesis of a derangement of T cell subpopulation regulatory activity is put forward.

[Chronic persistent HBsAg positive hepatitis in children. II. Effect of treatment with levamisole]. / Epatite cronica persistente HBsAg positiva in eta' pediatrica. NOTA II. Effetto di un trattamento con levamisole.

In five children affected by HBsAg positive chronic persistent hepatitis a treatment with Levamisole (LMS) modified several immunological parameters which had been found altered before treatment. In particular the percentage of E rosette forming cells increased while that of EAC decreased; B lymphocytes with SmIgG and the responsiveness to phytohaemagglutinin, which were significantly decreased and increased respectively, got normal values. Since the persistence of HBsAg was unaffected by LMS treatment and a light increase of transaminase serum levels (GPT and GOT) was observed during treatment, doubts are expressed about the opportunity of using LMS in children affected by such a form of hepatitis.

Clinical and laboratory findings in a new case of leukocyte adhesion deficiency.

We describe a child suffering from recurrent bacterial infections whose cells exhibited laboratory findings compatible with the leukocyte adhesion deficiency (LAD) syndrome. Surface marker analysis with monoclonal antibodies (MAbs) to the individual alpha and beta chains of LFA-1/Mac-1/p150,95 antigens revealed that the patient's neutrophils did not express the common beta chain and LFA-1/p150,95 alpha subunits, but reacted weakly with four different MAbs specific for the Mac-1 alpha chain; however, no glycoprotein was immunoprecipitated from the patient's cells using the same anti-Mac-1 alpha MAbs. Functional analysis of the patient's phagocytes revealed many of the defects in adherence-dependent functions (adherence, chemotaxis and phagocytosis) described in patients with LAD. The studies performed on the phagocytes of the patient's relatives showed normal phenotypes and function, suggesting the possibility of a non heritable form of disease in this family.