Our data suggest that the phenotype associated with POU1F1 mutations may be more variable, with the occasional preservation of TSH secretion. Additionally, our data revealed POU1F1 mutations in three patients who were diagnosed as having ACTH deficiency but who, on further evaluation, were found to have normal cortisol secretion. Hence, elucidation of the genotype led to further evaluation of the phenotype, with the cessation of cortisol replacement that had been commenced unnecessarily. These data reflect the importance of mutational analysis in patients with CPHD.

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The use of the 24-h HRV method can provide more accurate and reproducible data than other conventional cardiovascular tests.

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The cardiac autonomic function was evaluated in 23 patients with Systemic Lupus Erythematosus (SLE) without clinical expression of dysautonomia and in 14 healthy volunteer subjects as a control group, by analysis of Heart Rate Variability (HRV) from 24h ambulatory electrocardiography. All the patients were taking corticosteroids and 10 of them also Ciclosporin A (CsA). The following parameters of HRV were performed: Time domain: standard deviation of the RR intervals average (SDNN) and percentage of RR adjacent intervals differing from each other more than 50 msec (pNN50). Frequency domain: low frequencies (LF) and high frequencies (HF). Significant lower values were detected in SLE patients vs controls: SDNN = 69.40 vs 127.72; pNN50 = 16.44 vs 25.95; LF = 8.34 vs 34.97; HF = 3.21 vs 12.18. The incidence of autonomic dysfunction in our SLE population evaluated by considering intervals of normality is approximately 78% for SDNN; 17% for pNN50; 91% for LF and, finally, 56% for HF. The analysis of HRV may be a valuable technique in the study of the incidence of dysautonomia for these patients.

In the treatment of bronchial asthma, inhaled therapy with both bronchodilators and corticosteroids represents the basis for acute and long-term management. Drug therapy in asthma is predominantly by pressurized metered dose inhalers. The impact of treatment on the disease morbidity and mortality depends to a large extent on appropriate delivery of drug to the lungs by means of a spacer device. We performed an audit on spacer use in 200 children and showed that 99% owned a spacer, 2% owned but did not use their spacer, 11% were using a spacer which was not ideal for their age, 17% had a poor technique, and 24% were not following the recommendations given on previous visits to wash the spacer only with a soapy solution. Although physicians frequently associate poor control of asthma with inadequate doses of drugs, many factors must be considered before increasing the dose of inhaled medications to children. We should all ensure that the drugs we prescribe are delivered in the best possible manner, thus improving control of asthma, reducing side effects and offering a more cost-effective therapy.

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SummaryLeishmania infantum is endemic in the Maltese archipelago, a group of islands in the Mediterranean which are visited frequently by tourists from Northern European countries. The burden of leishmaniasis is highest in children who may present with cutaneous or visceral manifestations. We describe systematically the manifestations, diagnosis and management of leishmaniasis in children <14 years of age, who had a histopathological diagnosis of leishmaniasis in Malta, from 2004 to 2008. Eleven children were diagnosed with leishmaniasis; 8 children (15–44 months of age) had visceral disease and three (aged 9–13 years) suffered cutaneous infections. Prolonged high grade fever, pallor, hepatosplenomegaly, and pancytopenia were common presenting features of visceralisation. Diagnosis was based on the visualisation of amastigotes from bone marrow aspirates. Pentavalent antimonials were associated with treatment failure in two children, whilst liposomal amphotericin B was curative in all. Children with cutaneous leishmaniasis had dry crusted ulcero-nodular lesions on exposed areas which responded to intra-lesional instillation of sodium stibogluconate or to cryotherapy. Leishmaniasis should be included in the differential diagnosis of fever and hepatosplenomegaly or chronic cutaneous lesions in children who travel to Malta.