Methylmalonic acidemia and vitamin B12 dependency.
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Biomedical subjects
Publications and source records attributed to F Zacchello.
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Ten children with mild bronchial asthma underwent bronchial challenge with carbachol on three consecutive days; using a double-blind technique, they were given inhaled saline placebo on the first day and placebo or sodium cromoglycate (SCG) on the second and third days 15 min prior to the bronchial provocation test with carbachol. We did not find any significant difference between the baseline and placebo values, but we did obtain a statistically significant difference when comparing baseline with post-SCG and placebo with post-SCG values. These results demonstrate a protective effect of SCG on carbachol-induced bronchospasm in asthmatic children.
OBJECTIVE: To assess the electromyographic (EMG) and behavioural reactivity of a group of newborn infants exposed to noisy stimulation of various intensity recorded in the Paediatric intensive care Unit (PICU). METHODS: The study was performed at the nursery of the Paediatrics Department (University of Padova) on a group of 21 healthy newborns (mean 39 weeks of gestation), assessed between 24 and 72 h after birth. The study involved taking EMG recordings of the corrugator supercilii muscle and assessing the infant's behaviour at the baseline (15 seconds before stimulation), during noisy stimulation (for 1-2 seconds) and during recovery (15 seconds in three subphases). The noises, previously recorded in PICU, had four different intensities and were administered in random order to all infants. Descriptive analysis and repeated-measures analysis of variance (anova) were performed on the EMG and behavioural data. RESULTS: The infants demonstrated a significant reaction to the noises both in the EMG recordings and in behavioural changes, especially during intense noisy stimulation. The reaction lasted longer than the stimulation period, preventing the infants from returning to the baseline condition. CONCLUSIONS: Exposure to high-intensity noise produced in PICU causes evident behavioural and physiological effects (EMG). This is a field of study that could have important repercussions, given the medium- and long-term effects of repeated noise stimulation.
Seventy Italian families affected by 21-hydroxylase deficiency were studied in order to evaluate the distribution of mutations. The coding P450c21B gene, the highly homologous P450c21A pseudogene and the linked C4A, C4B and DRB genes, mapping within the major histocompatibility complex region, were studied by multiple restriction analysis and in vitro amplification. In the affected individuals, 21.4% of the chromosomes were found to carry either gene deletions or large and small gene conversions. Our findings, consistent with previous reports in other ethnic groups, provide further evidence for the genetic heterogeneity of the disease.
UNLABELLED: Pain is the principal, and often the only symptom in cases of recurrent abdominal pain (RAP). The purpose of this study was to analyze the clinical background behind the pain symptom and the pain's capacity for differentiation in the diagnostic assessment of a group of 86 children suffering from RAP and observed at a pediatric gastroenterology service. The self-rating methods applied to the children included a verbal scale and a Visual Analogue Scale (VAS) for scoring the pain, and the Eland method, which is based on a graphic representation of the pain to enable its quantification and localization. Regardless of the pain assessment emerging from this study, the children were divided into 3 groups on the basis of a standardized diagnostic procedure, i.e. G1--upper gastrointestinal tract disease; G2--RAP with no apparent organic cause; G3--intestinal disease. RESULTS: The intensity of the pain fails to distinguish between the three groups, while other features seem more useful, e.g. variability in the pain's intensity, the number and location of painful sites, and the how the pain is graphically represented. Drawings typical of RAP with no apparent organic cause characteristically represent the pain more accurately and in greater detail, using more colors and a certain refinement in the performance of the drawing, with varying types of pain in subsequent episodes, and involving several abdominal and even extra-abdominal sites. In our experience, this method might contribute towards the completion and standardization of the child's clinical history and clinical evaluation. Such methods would have to be validated by further clinical studies, however.
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We retrospectively examined the 24 hour oesophageal pH study and the upper gastrointestinal (UGI) series of 67 children aged 5 weeks to 15 years. Thirty-seven were suffering from gastro-oesophageal reflux (GER) and 27 from other diseases. Nineteen of them were younger than 6 months, 22 older than 18 months and the remaining 26 ranged from 6 to 18 month old. We found a high incidence of false positive and false negative results of the UGI series in all age groups. The number of false positive results was much higher in infants younger than 6 months (67%) than in the older children studied (27% between 6 and 18 months and 14% after 18 months). On the contrary, false negative results were absent in the first 6 months of life, but their number increased with age, up to 40% in children older than 18 months. Moreover, the 24 hour ph monitoring was found to have a high sensitivity (100%) and specificity (82-100%) in all age groups. For this reason, we believe than this examination could be used as the first line of investigation for the diagnosis of GER in all children, independently of their age.
22 infant and children, all tetraplegic from cerebral palsy were admitted to our hospital for suspected gastroesophageal reflux. This working diagnosis was confirmed in 17 of them (77%) by an upper GI series and/or 24 hour oesophageal pH monitoring. All 17 were treated with medical therapy. In only 12.5% of them gastroesophageal symptoms improved. Seven children underwent surgery with complete resolution of vomiting in 57% of cases. These data confirm the high frequency of gastroesophageal reflux in children with cerebral palsy and its poor response to medical therapy. Most of these patients require surgical treatment, which unfortunately does not always resolve this vexing problem.