[Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum]. / Revisión de 22 casos de deleción 22q11.2: espectro fenotípico.

INTRODUCTION: The 22q11.2 deletion syndrome is a contiguous gene deletion syndrome with an incidence rate of 1/4,000-6,000 live births. The most specific clinical features are: congenital conotruncal heart diseases, palate anomalies, hypocalcaemia, immunity and learning problems, and a characteristic facial phenotype. The objective of this work is to review the presenting phenotype and clinical features of children with 22q11.2 deletion syndrome as a guide for early diagnosis. PATIENTS AND METHODS: Retrospective study of 22 patients with 22q11.2 deletion syndrome diagnosed at our hospital in the time period 2004-2007. Variables analyzed: incidence, sex, age at diagnosis, presenting phenotype, clinical features, positive family history, mortality and natural history. RESULTS: From a total of 22 patients, 63 % were males, and the median age at diagnosis was of 4.5 years. Presenting pheno-type: congenital heart disease, milestones delay, velopharyngeal incompetence, hypocalcaemia, and mental retardation/psychiatric disturbances. CLINICAL FEATURES: congenital heart disease (84 %), velopharyngeal incompetence (47 %), milestones delay and learning disabilities (79 %). All of the deletions were de novo, except in one case where the deletion was present as mosaicism in the father. Three patients died, due to congenital heart disease. CONCLUSIONS: Clinical expression is widely variable, although a characteristic phenotype exists. Patients with heart disease are diagnosed earlier than other patients with unusual presenting phenotype such as congenital dysphagia. It is important to recognize less common phenotypes at early ages in order to provide multidisciplinary monitoring and accurate genetic counselling.

[Malama project in the Region of Murcia (Spain): environment and breastfeeding]. / Proyecto Malama en la Región de Murcia (España): medio ambiente y lactancia materna.

OBJECTIVES: To identify protective factors and risk factors for the initiation and length of breastfeeding and full breastfeeding, in the Region of Murcia (Spain). PATIENTS AND METHODS: The Malama study (Medio Ambiente y Lactancia Materna) is a follow up study from birth up to years of 1,000 mother-child pairs. A description of breastfeeding practices are presented here, the survival curve of breastfeeding and a Cox regression model of the pilot study that includes 101 mother-child pairs and 6 months of follow-up. RESULTS: After six months the prevalence of breastfeeding was 35 %. The mean duration of full breastfeeding was 63 days (median 45 days) with six months prevalence of 8 %. Hazard ratios (HR) for full breastfeeding were, to be a smoker (1.89; 95 % CI: 1.18-3.02), older than 35 years of age (2.04; 95 % CI: 1.22-3.42), caesarean birth (1.63; 95 % CI: 1.00-2.66). As well as those previously mentioned risks for breastfeeding, there were also hazard ratios for primary school education or less (1.63; 95 % CI: 0.98-2.82); to have breastfed an earlier child for at least 16 weeks (0.33; 95 % CI: 0.13-0.79), and to be the first birth (0.50; 95 % CI: 0.27-0.95). The length of both breastfeeding and full breastfeeding increased with the length of the maternal leave (0.96; 95 % CI: 0.94-0.99). Pregestational occupational exposure to endocrine disruptors did not seem to interfere with the duration of breastfeeding. CONCLUSIONS: In order to improve quality and duration of breastfeeding programmes, paediatric research and training on breastfeeding practice should be encouraged, to reduce unnecessary caesarean sections, promote tobacco cessation, focus human and economic resources to women with less education, and include legal mechanisms to ensure longer maternal leave.

[Guidelines for the follow up of patients with bronchopulmonary dysplasia]. / Protocolo de seguimiento de los pacientes con displasia broncopulmonar.

Bronchopulmonary dysplasia (BPD) is the most common complication of preterm birth, and remains a major problem in pediatric pulmonology units. The decision of discharging from the Neonatal Unit should be based on a thorough assessment of the condition of the patient and compliance with certain requirements, including respiratory and nutritional stability, and caregiver education on disease management. For proper control of the disease, a schedule of visits and complementary tests should be established prior to discharge, and guidelines for prevention of exacerbations and appropriate treatment should be applied. In this paper, the Working Group in Perinatal Respiratory Diseases of the Spanish Society of Pediatric Pulmonology proposes a protocol to serve as a reference for the follow up of patients with BPD among different centers and health care settings. Key factors to consider when planning discharge from the Neonatal Unit and during follow up are reviewed. Recommendations on treatment and prevention of complications are then discussed. The final section of this guide aims to provide a specific schedule for follow-up and diagnostic interventions to be performed in patients with BPD.

[Antibiotic susceptibility of Streptococcus pneumoniae in healthy carrier children in Murcia (Spain)]. / Sensibilidad de Streptococcus pneumoniae en niños portadores sanos en Murcia (España).

INTRODUCTION AND OBJECTIVES: Streptococcus pneumoniae (SP) is a human pathogen that involves a high use of antibiotics. The objective of the study was to determine the susceptibility to commonly used antibiotics and their associated risk factors, in order to promote rational use of antibiotics. PATIENTS AND METHODS: In A multicentre study was conducted in summer 2009 and winter 2010 on children attending paediatric clinics in the Region of Murcia. A nasopharyngeal sample was collected and an epidemiological questionnaire was completed. The study included 1562 children aged 1 and 4 years old. RESULTS: Almost one-third (31.3%, 489/1562) of children were nasal carriers. A sensitivity study was carried out on 376 isolates, of which 343 were serotyped. Almost two-thirds (61.7%, 964/1562) of children had received at least one dose of PCV7 (heptavalent pneumococcal conjugate vaccine), and 12.8% (44/343) of the isolates belonged to PCV7 serotypes. The prevalence rates of penicillin resistance (meningitis infections criteria CMI>0.06mg/L) were 28.1%; however, this percentage was 54% in PCV7 serotypes. None of the isolates had (MIC >2mg/L), so prevalence rates of susceptibility with non-meningitis infections criteria were 100%. There was a high percentage of erythromycin resistance (45.7%). The factors favouring resistance to penicillin and cefotaxime were the consumption of antibiotics in the previous month and the carrying of vaccine serotypes. On the other hand, the age of 4 years old was a protective factor of resistance. The 14, 35B, 19A, 15A, and 19F serotypes were less susceptible to penicillin. CONCLUSIONS: Both oral amoxicillin given to outpatients and intravenous penicillin or ampicillin to hospitalized patients are excellent options for the treatment of non-meningeal infections, as seen with pneumonia in these kinds of environments, where there is low incidence of isolates highly resistant to penicillin (CMI ≥ 2mg/L).

[Epidemiology, clinical features and medical interventions in children hospitalized for bronchiolitis]. / Características epidemiológicas, clínicas y terapéuticas de lactantes hospitalizados por bronquiolitis.

OBJECTIVES: To describe the epidemiology, clinical characteristics and treatments prescribed in children with bronchiolitis admitted to our hospital. MATERIAL AND METHODS: Observational, descriptive and prospective study of children younger than 18 months, admitted to Hospital Virgen de la Arrixaca of Murcia (Spain), with the diagnosis of bronchiolitis, during the season of maximum incidence (December 2008-April 2009). RESULTS: A total of 235 infants were admitted, of whom 78.7% of them were aged 5 months or less. We found a positive correlation between the number of cigarettes smoked by their mothers during pregnancy and the number of hospitalization and oxygen therapy days. Children whose mothers were smokers at the time of their admission needed a greater number of oxygen therapy days. Also infants who were not breastfed needed oxygen therapy during more days. Just under one quarter (23.8%) of them had underlying diseases, with prematurity being the most frequent and a risk factor for the ongoing of oxygen therapy and hospital stay. The use of diagnostic tests, bronchodilators, corticosteroids and antibiotics was high. The onset of high temperature was associated with an increased use of antibiotics in outside and inside the hospital setting. An abnormal chest X-ray or a raised C-reactive protein was associated with a higher use of antibiotics. Respiratory Syncytial virus (RSV) was the main aetiological agent, followed by Rhinovirus, Bocavirus, Adenovirus and Metapneumovirus CONCLUSIONS: The majority of hospital admissions due to bronchiolitis took place during the first months of life. Infants whose mothers smoked during pregnancy had a worse clinical outcome. Despite the availability of clinical practice guidelines in our area, the use of diagnostic tests and pharmacological treatment was high.

[Ribavirin in the treatment of bronchiolitis caused by syncytial respiratory virus]. / Ribavirina como tratamiento de la bronquiolitis por virus respiratorio sincitial.

OBJECTIVE: The aim of this study was to evaluate ribavirin therapy for acute bronchiolitis caused by viral syncytial respiratory infection. PATIENTS AND METHODS: Ninety-seven patients with acute bronchiolitis in which respiratory syncytial virus was identified by direct immunofluorescence and admitted to the hospital between October 1990 and May 1995 were studied. Data pertaining to age, sex, weight, respiratory frequency at admission, respiratory frequency on the fourth day, day in which respiratory ausculation was normal, day in which there were no thoracic retractions, number of days that the infants needed oxygen, duration of hospital stay, and whether or not they were treated with ribavirin were collected retrospectively. RESULTS: At admission there were no statistically significant differences in patients treated or not with ribavirin or in age, sex or weight, but the respiratory frequency was higher in those patients treated with ribavirin than in those who were not. The number of days of oxygen therapy was statistically different between these groups, with infants treated with ribavirin requiring oxygen for 2.7 days and the nontreated group requiring 1.7 days. However, we think that this difference is not clinically relevant. CONCLUSIONS: We did not find any difference of clinical relevance between patients treated or not with ribavirin.

[The behavior of FEV1 and PEFR in the free running test for the detection of exercise-induced asthma in childhood]. / Comportamiento del FEV1 y del PEFR en la prueba de carrera libre para la detección del asma inducida por ejercicio en la infancia.

OBJECTIVE: Our aim was to study the behavior and validity of PEFR and FEV1 in the free-running exercise test in order to diagnose exercise-induced asthma during childhood. PATIENTS AND METHODS: We studied 30 asthmatic children and 30 healthy children as controls. A provocation test was performed by means of free-running exercise in an indoor sports center. Environmental temperature and humidity were equal in both groups. Forced breathing spirometry and the "Mini-Wright peak flow meter" test were recorded before and two, five, fifteen and twenty minutes after the exercise challenge. The spirometric values representing two standard deviations below the mean for each variable studied in the control group were considered as reference values (FEV1 > or = 83.5% and PEFR > or = 81.5%). RESULTS: There was a decrease in FEV1 in 17 asthmatic children (56.7%) and a decrease in PEFR occurred in 14 children (46.7%). No statistically significant differences were found in either test. Specificity was 100% for FEV1 and 96.7% for PEFR. The greatest decrease in both spirometric parameters occurred at five minutes. CONCLUSIONS: According to our results, in a free-running provocation test if we maintain previously controlled environmental conditions and exercise intensity "forced breathing spirometry" and "Mini-Wright peak flow" can be used interchangeably in order to diagnose exercise-induced asthma.

[Breast feeding promotion: is health education effective?]. / Promoción de la lactancia materna. Es efectiva la educación sanitaria?

A program founded on health education, habitually realized in the national health centers to increase the breast-feeding practice, was evaluated. In 1990, in order to know social and economic characteristics and alimentation practices associated to the incidence and duration of breast-feeding, mothers answered a questionnaire at the first week and sixth month of their child's life. Some aspects about breast-feeding promotion in our country are discussed.