Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)).

Introduction: Monoallelic microdeletion of chromosome 22q11 (22q11DS) is considered to be the commonest human microdeletion syndrome. Abnormalities of thyroid function are sporadically reported in this syndrome, but very few studies have specifically assessed this issue, and thyroid morphology has not been systematically studied.

Design: To evaluate the prevalence of abnormalities of thyroid function and morphology in a cohort of paediatric and adult patients with 22q11DS.

Thyroid function and morphology in patients affected by Williams syndrome.

Objective: To evaluate the prevalence of abnormalities of thyroid function and morphology in a cohort of patients with Williams syndrome (WS).

Methods: Serum concentrations of free-T3, free-T4, TSH, thyroperoxidase antibodies (TPOA) and thyroglobulin antibodies (TgA), as well as ultrasonographic data, of 20 patients with WS (12 females and eight males), aged 1.7-34.

[Efficacy of steroid therapy in a case of hepatic hemangioendothelioma in childhood].

Multiple hepatic hemangioendothelioma are vascular lesions of the liver that generally appear in the infancy with hepatomegaly, high output congestive heart failure and cutaneous hemangiomas. Many plans for management (steroid, radiation, hepatic artery ligation, embolization, cyclophosphamide) have been proposed. We report a case in two months old boy of hepatic hemangioendothelioma with arteriovenous shunts and heart congestive failure, successfully treated with steroid.

[Gastroesophageal reflux and respiratory pathology].

The prevalence of gastroesophageal reflux (GER) in 86 children with respiratory disease (recurrent pneumonia, chronic cough, bronchial asthma) has been evaluated by mean of prolonged (22-24 hours) esophageal pH-monitoring. The following parameters were evaluated: the total percentage of time pH < 4 and the percent time the esophageal pH was < 4 while sleeping. None of the children had gastrointestinal symptoms suggesting GER and no neurological disorder was noted in any of the studied patients.

[Diagnosis by imaging in renal and urinary tract malformations. Comparison of echography and traditional radiological studies].

The diagnostic sensitivity of Ultrasound (US) was studied in 142 children with suspected kidney and urinary tract malformations. According to the clinical tests performed the patients underwent excretory urography (EU) and/or voiding cystouretrography (VCU); the results were compared to US findings. In the 75 patients with malformations, US proved to be extremely sensitive in abdominal renal ectopies, in "horseshoe" kidney, and in congenital obstructions of the ureteropelvic and vesico-ureteral junctions.