Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.

Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder characterized by facial dysmorphisms, upper limb abnormalities, growth and cognitive retardation. About half of all patients with CdLS carry mutations in the NIPBL gene. The first Italian CdLS cohort involving 62 patients (including 4 related members) was screened for NIPBL mutations after a clinical evaluation using a quantitative score that integrates auxological, malformation and neurodevelopmental parameters.

Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosis.

In 1994, Giuffré et al. reported two unrelated families in which some of the members had microcephaly and radio-ulnar synostosis, suggesting a new condition. Since this first report, Tsukahara et al.

The natural history of allergy: the development of new sensitizations in asthmatic children.

Allergy is an important risk factor for asthma in children as most of asthmatic children are sensitized. The aim of the study was to investigate the natural course of sensitizations in a group of children (340) at the onset of asthmatic symptoms. We subdivided children in three groups depending on the age at first visit (3-7-11 years) and followed them for 4 years.

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

We recently identified mutations of ARX in nine genotypic males with X-linked lissencephaly with abnormal genitalia (XLAG), and in several female relatives with isolated agenesis of the corpus callosum (ACC). We now report 13 novel and two recurrent mutations of ARX, and one nucleotide change of uncertain significance in 20 genotypic males from 16 families. Most had XLAG, but two had hydranencephaly and abnormal genitalia, and three males from one family had Proud syndrome or ACC with abnormal genitalia.

Influence of age, sex, and growth variables on phalangeal quantitative ultrasound measures: a study in healthy children and adolescents.

Skeletal status by phalangeal quantitative osteosonography (DBM Sonic BP-IGEA) was examined in 1227 healthy children (641 boys and 586 girls) aged 3-16 years. Aims of the study were to evaluate some physical parameters pertaining to the ultrasound transmission crossing the phalanx in a school-age population and to relate these values to age, sex, and growth variables. A correlation was found between AD-SoS (amplitude-dependent speed of sound) and BTT (bone transmission time) and, age, height, weight, and pubertal stage, respectively.

[Communication in adolescence: how to transmit prevention].

We propose some considerations about adolescence, a topic that starts from the know-how of paediatricians and then includes other meanings. One of the most boisterous periods of our life and at the same time one of the most fascinating ones is adolescence. Complex changes characterize this age and these can lead to suffering and confusion even in normal conditions.

[Prevalence of goiter and urine iodine in a school population in an area of the Bolognese Apennines].

We evaluated goiter prevalence and urinary iodine excretion (UIE) in schoolchildren living in three villages of the Appennines in the Bologna district-Castel d'Aiano (CA), Gaggio Montano (GM) and Pietracolora (PC). 175 age-matched schoolchildren living in the urban area of Bologna were considered as control group. In the control area the presence of goiter was documented in 11 out of 175 subjects (6.

[Results of screening of congenital hypothyroidism and iodine excess in neonatal age].

We evaluated the distribution of TSH levels on dried blood spots (Delfia system-threshold value for recall 20 microU/ml) in 27,282 consecutive samples examined during 1993, in the Emilia-Romagna region. We also evaluated, by questionnaire, the frequency of iodine disinfection in the perinatal period in all centers that do blood spots. We also evaluated the distribution of TSH spot values according to the localization of the center in endemic or not endemic area of the region.

[Afebrile seizures in rotavirus gastroenteritis].

Rotavirus is an important cause of acute gastroenteritis in infants. Gastroenteritis has been reported in association with a variety of other disease conditions, such as respiratory infections and CNS involvement. A case of a child, thirteen months old, presenting afebrile seizures during a rotavirus gastroenteritis is described.

[Orbital cellulitis. A case report].

This study describes the case of a 6 years old child, male, with orbital cellulitis and underlines the importance of an early diagnosis and therapy to avoid severe complications often present in this disease. Swelling and redness of the eyelid, pain and ophthalmoplegia are the first sign of an orbital cellulitis and they require rapid diagnostic procedure such as ultrasound and TC scan of the orbital region to evaluate the integrity of the profound orbital tissues. The child was admitted at the Department of Pediatrics, University "La Sapienza" of Rome and underwent an ultrasound, TC scan and serum exams which demonstrated the elevation of the sedimentation rate, reactive C protein and WBC plus the interesting of the profound orbital tissues.

Down syndrome and coeliac disease: usefulness of antigliadin and antiendomysium antibodies.

The usefulness of antigliadin (AGA) and antiendomysium antibodies (EMA) as a screening test for coeliac disease (CD) in 113 Down syndrome (DS) patients (61 children) was evaluated. AGA IgA were present in 22.1%, AGA IgG in 48.

[Celiac disease today].

Recent studies have been reported for coeliac disease a new prevalence: 1:200 in Europe, 1:184 in Italy. These improvements have been possible for new diagnostic methods and techniques available today: antigliadin, antireticulin and antiendomysium antibodies. These serologic markers have been detected, in recent advances, new clinical presentations for coeliac disease: not only typical gastrointestinal symptoms (diarrhea, recurrent abdominal pain, etc), but many atypical symptoms have been described: sideropenic anemia, short stature, growth retardation, dermatitis herpetiformis, small alterations, alopecia, etc.

[Left pneumonectomy in a child with congenital bronchiectasis].

A case of diffuse bronchiectasis concerning an entire lung in an eight-year-old boy is described. The disease in this case was widespread in the entire left lung and was considered as consequent to a defect in the development of the left bronchial wall. Because of the frequent respiratory infections, occurring since birth, and given the good anatomical and functional conditions of the right lung, we recommended the surgical excision of the sick lung.

[Dichloromethylenbiphosphonic acid in the therapy of myositis ossificans progressive (MOP)].

The authors report 3 cases of myositis ossificans progressiva (MOP) treated with i.v. dichloromethylenbiphosphonic acid.

[Evaluation of sensitivity and specificity of antigliadin antibodies for the diagnosis of celiac disease in childhood].

A retrospective study with the aim of evaluating sensitivity and specificity of antigliadin antibodies (AGA) was carried out. AGA values, IgA and IgG, and mucosal damage at intestinal biopsy were compared in each subject, on a sample of 245 subjects, who had undergone intestinal biopsy because of suspected coeliac disease (CD), from January 1991 to December 1993. 130 subjects (53.

[Mammary duct ectasia in children].

Authors describe two uncommon cases of infantile mammary duct ectasia (EDM). This disease, first reported in 1983, is characterized by dilatation of the subareolar duct system, and by phlogistic reaction and fibrosis. In the medical literature only 8 cases have been reported, but probably its frequency is undervalued due to the scarce general knowledge of this pathology.

[Lactitol in chronic idiopathic constipation in children].

Fifty-one children affected by chronic idiopathic constipation (23 males, 28 females), ranging in age from 8 months to 16 years were enrolled in the study; 42 completed the trial. The patients were divided into two groups: Group A: 19 children treated with lactitol (250-400 mg/kg/day); Group B:23 patients treated with lactulose (500-750 mg/kg/day). Parents filled a questionnaire concerning clinical response to therapy for a period of 30 days.

Irritable bowel syndrome in children: an Italian multicentre study. Collaborating Centres.

A multicentre study was carried out on 285 children suffering from irritable bowel syndrome (IBS). Patients were divided according to clinical symptoms and age: Toddler's diarrhoea (TD) under 3 years of age and recurrent abdominal pain (RAP) over 3 years of age characteristics in children with TD and RAP were compared with those found in 114 subjects suffering from various gastrointestinal diseases (GIC) and in 192 normal children. This analysis allowed a complete profile of children with IBS in Italy to be obtained.

Coeliac disease, enamel defects and HLA typing.

The presence of dental enamel defects in coeliac disease and their relation to hypocalcaemia or a particular HLA class in 82 Italian children with coeliac disease was studied. Demarcated opacities or hypoplasia were detected in 23 subjects (group 1) while minimal or no dental lesions were found in the remaining 59 patients (group 2); in 189 normal controls, enamel lesions were significantly less frequent than in patients with coeliac disease (14.8% versus 28.

[High incidence of Helicobacter pylori infections in an endoscopic pediatric patient series].

We evaluated in children with abdominal complaints the prevalence of Helicobacter pylori gastric and duodenal colonization and the histological features of gastric and duodenal mucosae. Fifty patients, aged 1-17 years, underwent upper endoscopy for recurrent abdominal pain, vomiting and/or gastrointestinal bleeding. With serological, bacteriological and/or histological methods twenty-eight children were demonstrated to be Helicobacter pylori-positive.

[Evaluation of the clinical efficacy of azithromycin in acute respiratory infections in children].

Azithromycin activity in vivo has been studied in a group of children with acute respiratory tract infections in order to test the efficacy and tolerability of this antibiotic. The study involved 135 children treated with a single daily 10 mg/kg dose of azithromycin for three consecutive days. Ten days after this treatment 100% of children with otitis media, tracheobronchitis, or rhinosinusitis and 95.

[Retrospective study on weaning in Rome and its province. Results and critical considerations].

The authors report and comment on the results of an epidemiological retrospective study on weaning. The study was performed in Rome and its province through the administration of a structured interview to the parents of 851 children, aged between 6 months and 3 years. Data show that most children are correctly weaned, in terms of both timing and quality of foods.

[Thymic hyperplasia. Description of a clinical case].

Thymomegaly, which was in the past considered as predisposition to sudden death infants, is judged today as paraphysiological. The study achieved on a 10 months' patient shows the complexity in determining the diagnosis of simple thymic hyperplasia, when together with a massive thymus enlargement are conditions which divert to other pathologies, as in this tested clinical case.

A three-year double-blind placebo-controlled study with specific oral immunotherapy to Dermatophagoides: evidence of safety and efficacy in paediatric patients.

Very few double-blind trials of oral immunotherapy have been reported. The majority of these have been performed with pollen extracts and the results have often been equivocal. The major weaknesses of these studies have been the short periods of the trials, the low doses of allergen employed and inadequate evaluation of efficacy.