Our findings warrant attention for IRDS and diaphragmatic hernia, close monitoring of the aortic root early in life, and extensive vascular imaging afterwards. EM on skin biopsies shows disease-specific abnormalities.

ResumoObjetivo: Embora a obesidade tenha sido associada ao comprometimento grave da ventilação, a maior parte da população estudada constitui-se de adultos com obesidade mórbida. Nosso objetivo foi investigar os efeitos da obesidade leve na função ventilatória de pacientes pediátricos.Métodos: Estudo transversal controlado que analisou 80 pacientes (M/F: 35/45) avaliados em nosso ambulatório, com queixa de sobrepeso, sem histórico de asma ou de outras atopias, comparando-os a um grupo controle com 50 crianças de peso normal controladas para a idade e para o sexo. A média de idade dos pacientes foi de 9,7±2,5 anos (7 a 15 anos). AbstractObjective: Although obesity was found to be associated with severe impairment of ventilation, most of the study population has been morbidly obese adults. We aimed to explore the effects of mild obesity on ventilatory function in the pediatric age group. Methods:In a cross-sectional controlled study, 80 patients (M/F: 35/45), who were evaluated in our outpatient clinic with the complaint of excess body weight, with no history of asthma or other atopic diseases were studied and compared to a control group of 50 normal weight children controlled for age and sex. The mean age of patients was 9.7±2.5 years (7 to 15 years). Anthropometric measurements and spirometry were performed in all subjects. Forced vital capacity (FVC) and forced expiratory volume in 1 second (FEV1) were used as measures of ventilatory function.Results: There were no significant differences in FEV1%, FVC% and FEV1%/FVC% by study group (p > 0.05). Only three patients had obstructive abnormalities documented on their pulmonary function tests (two had moderately severe and one had mild obstructive abnormalities).No correlation was observed between pulmonary function parameters and anthropometric measurements.Conclusion: These data demonstrate that pulmonary function test parameters of the mildly obese children were similar to those of the normal weight children. Anthropometric measurements had no significant effect on spirometric measurements in children as they did on adults.J Pediatr (Rio J). 2007;83(2):171-176: Obesity, ventilatory function, spirometry.

Our aim was to determine, using a computer program for measurement and analysis, the effects, if any, of age and gender on the electrocardiographic measurements in a large cohort of Turkish children. We analyzed standard simultaneous 12-lead electrocardiograms from 2241 healthy Turkish children, aged from 1 day to 16 years, to calculate limits of normality of a variety of electrocardiographic measurements for 12 age groups. Clinically significant differences were shown to exist, and the results compared with previously established normal limits. Differences were demonstrated for gender in measurements of both amplitude and duration, particularly in the adolescent period. We have provided tables and figures showing age and gender-dependent means and upper limits of normal electrocardiographic parameters for the important leads.

The examiner should be aware of the existence of this rare anomaly. If echocardiographic examination shows ventricular hypertrophy and/or poor ventricular function, INVM should be considered and in order to see recesses, ventricle walls should be investigated by zooming in and comparing frame by frame.

Subvalvular aortic stenosis accounts for 1-2 % of all congenital heart disease and for 8-20 % of cases of left-ventricular outflow tract (LVOT) obstruction in children. Recurrence of subaortic stenosis (SAS) is not uncommon after surgical management. This study was performed to investigate the clinical and surgical outcomes and to estimate the predictability of recurrences of SAS. Seventy-nine patients age 3-21 years with SAS between 1994 and 2010 were reviewed. Fifty-one patients had discrete SAS, whereas the remaining 15 patients had fibromuscular ridge-type SAS. Mean follow-up time without surgery was 22 months (range of 1-94). Forty-one patients with a diagnosis of SAS underwent surgery. Recurrence rates were 22.7 % (15 patients), and these patients developed SAS at a mean of 4.7 years follow-up. We performed second surgical membrane resection in only 1 patient. The risk of recurrence of SAS was only linked to higher preoperative LVOT gradient. Twenty-three patients had no aortic regurgitation (AR) at preoperative echocardiography. Of these, 39.1 % had trivial, 8.7 % had mild, and 8.7 % had moderate AR after surgery; there was no significant AR. We conclude that surgical intervention was required most of the time in patients with SAS, and surgical outcomes was excellent even if there were associated cardiac defects. The risk of recurrences was higher, especially in patients with higher initial LVOT gradients, although a second surgery was rarely necessary in these patients.