Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births.

Until early 2000, permanent and transient neonatal diabetes mellitus (NDM), defined as diabetes with onset within 6 weeks from birth that requires insulin therapy for at least 2 weeks, were considered exceedingly rare conditions, with a global incidence of 1:500,000-1:400,000 live births. The new definition of NDM recently adopted, that includes patients with diabetes onset within 6 months of age, has prompted studies that have set the incidence of the permanent form alone between 1:210,000 and 1:260,000 live births. Aim of the present work was to ascertain the incidence of NDM (i.e. permanent + transient form) in Italy for years 2005-2010. Patients referred to the Italian reference laboratory for NDM between years 2005 and 2010 and screened for mutations in common NDM genes (KCNJ11, ABCC8, and INS) and for uniparental isodisomy of chromosome 6 (UDP6) were reviewed. A questionnaire aimed at identifying NDM cases investigated in other laboratories was sent to 54 Italian reference centers for pediatric diabetes. Twenty-seven patients with NDM born between 2005 and 2010 were referred to the reference laboratory. In this group, a mutation of either KCNJ11, ABCC8 or INS was found in 18 patients, and a case with UDP6 was identified. Questionnaires revealed 4 additional cases with transient neonatal diabetes due to UDP6. Incidence of NDM was calculated at 1:90,000 (CI: 1:63,000-1:132,000) live births. Thus, with the definition currently in use, about 6 new cases with NDM are expected to be born in Italy each year.

[Kluver Bucy syndrome and central diabetes insipidus: two uncommon complications of herpes simplex encephalitis]. / Sindrome di Kluver Bucy e diabete insipido centrale: due rare complicanze dell'encefalite erpetica.

Herpes Simplex Encephalitis (HSE) is an uncommon but severe disease with high mortality and morbidity. The major clinical manifestations are deteriorating consciousness with confusion, drowsiness or coma, altered behaviour, convulsions and a variety of neurological signs (hemiplegia, aphasia, ataxia, etc.). An uncommon complication of HSE is Kluver Bucy syndrome (KBS), characterized by hyperorality, bulimia and changes in emotional behaviour. Neuroimaging studies frequently show an involvement of the temporal lobes and limbic areas. Another uncommon complication of HSE is central diabetes insipidus as a result of herpes simplex infection of the hypothalamus. We report two pediatric cases of HSE complicated with Kluver Bucy syndrome and central diabetes insipidus.

[Evaluation of diosmectite in acute diarrhea in children]. / Valutazione della diosmectite nella diarrea acuta in età pediatrica.

The aim of this case-control study, was to estimate clinical effects, safety and parents' assessment of Diosmectite, in acute infantile diarrhoea. Thirty-five children aged 0-5 years, with acute diarrhoea from at least 5 days received alternatively oral rehydration solution (ORS) and Diosmectite (3 g/day for 3 days in children aged under 3 years and 6 g/day for 3 days in children aged over 3 years) (16 cases) or ORS only (19 cases). At discharge, parents' opinion concerning satisfaction for treatment received was evaluated through a questionnaire. Differences in the amount of liquid intake, weigh recovery, resolution of fever, resolution of vomiting and number of loose stools in the first 48 hours of hospitalization were not significant. Diosmectite was well tolerated and no major side effects were found. Parents' satisfaction for therapy resulted higher in the treated group than in the control group, even if differences were not significant. Treatment with ORS and Diosmectite allowed to shorten the mean duration of hospitalization by 0.4 days/children in the treatment group compared to the control group. Further studies with more cases and with higher does of the drug are necessary to confirm our results.

[Prevalence of Chlamydia pneumoniae in respiratory infections in children: an ambulatory diagnostic problem]. / Prevalenza di Chlamydia pneumoniae nelle infezioni respiratorie del bambino: un problema diagnostico ambulatoriale.

It has been recently suggested that Chlamydia Pneumoniae infection is a common finding among children with acute respiratory diseases. Chlamydia cell culture is difficult and time-consuming to perform. Polymerase chain reaction (PCR) is a more rapid but also more expensive technique used to identify Chlamydia in pharyngeal swab, but it can be performed only in few specialized laboratories. We tested a rapid enzyme immuno-assay to detect Chlamydia in 20 children with respiratory infections (mean age 3.29 years; male:female ratio = 12:8) and in 21 healthy children (mean age 4.70 years male:female ratio = 15:6). Prevalence of Chlamydia isolation from pharyngeal swab was very high in both patients and healthy children without a significative difference in the two considered groups (45% vs 42%, p = 0.8). Specific Chlamydia IgG antibodies were undetectable in all patients and healthy children. Nine out of 20 patients affected by acute respiratory disease were Chlamydia-positive and 11 out 20 were Chlamydia-negative: these two groups didn't differ in regard to clinical and laboratory features, whereas duration of symptoms was significantly longer in Chlamydia-positive patients (9.3 vs 5.5 days, p = 0.014). Our study suggests a high prevalence of Chlamydia pharyngeal swab positivity in both healthy and sick children. Diagnosis of Chlamydia infection was not feasible on the basis of the considered clinical and laboratory findings.