Objective. Cystic fibrosis (CF) has variable clinical presentation. Disease severity is partially associated with the type of mutation. The aim of this study was to report genotype-phenotype analysis of the G85E mutation. Patients. The phenotype of 12 patients (8 were from the same extended family, and 5 of them were siblings from 2 families) carrying at least one copy of the G85E mutation was evaluated and compared with the phenotype of 40 patients carrying the two severe mutations, W1282X and/or ΔF508 (group 1), and with 20 patients carrying the splicing mutation, 3849+10kb C->T, which was found to be associated with milder disease (group 2). Results. A high phenotypic variability was found among the patients carrying the G85E mutation. This high variability was found among patients carrying the same genotype and among siblings. All the studied chromosomes carrying the G85E mutation had the 7T variant in the polythymidine tract at the branch/acceptor site in intron 8. Of the G85E patients, 25% had pancreatic sufficiency and none had meconium ileus, compared with 0% and 32%, respectively, of patients from group 1, and 80% and 0%, respectively, from group 2. Two patients carrying the G85E mutation had sweat chloride levels <60 mmol/L whereas all the others had typically elevated levels >80 mmol/L. Compared with group 2, patients carrying the G85E mutation were diagnosed at an earlier age and had higher sweat chloride levels, with mean values similar to group 1 but significantly more variable. Forced expiratory volume in 1 second (FEV1) was similar in the three groups, with no differences in the slope or in age-adjusted mean values of FEV1. The levels of transcripts lacking exon 9 transcribed from the G85E allele measured in 3 patients were 55%, 49%, and 35% and their FEV1 values were 82%, 83%, and 50% predicated, respectively. Conclusions. The G85E mutation shows variable clinical presentation in all clinical parameters. This variability could be seen among patients carrying on the other chromosome the same CFTR mutation, and also among siblings. This variability is not associated with the level of exon 9 skipping. Thus, the G85E mutation cannot be classified either as a severe or as a mild mutation.
The syndrome of infantile bronchiolitis in cystic fibrosis (CF) carries a high mortality. Fifteen cases of CF encountered over the past 19 years with severe bronchiolitis with onset during the first 6 months of life are described. Treatment include steroids in high doses. All patients recovered. Further progress resembled the usual natural course of CF and showed no evidence of persisting lung damage. The mechanism of this syndrome is not clear and is probably dependent on many factors involved in early lung disease in CF. The frequency of severe bronchiolitis in cystic fibrosis may not be high, but it continues to be seen in clinical practice today.
Arginine vasopressin was found in experimental and clinical studies to have a beneficial effect in cardiopulmonary resuscitation. The American Heart Association 2000 guidelines recommended its use for adult ventricular fibrillation arrest, and the American Heart Association 2005 guidelines noted that it may replace the first or second epinephrine dose. There is little reported experience with arginine vasopressin in cardiopulmonary resuscitation of children. Terlipressin, a long-acting analog of arginine vasopressin, has recently emerged as a treatment for vasodilatory shock in both adults and in children, but evidence of its effectiveness in the pediatric setting is sparse. The objective of this retrospective study is to describe our experience in adding terlipressin to the conventional protocol in children with cardiac arrest.Retrospective case series study.An 18-bed pediatric critical care department at a university-affiliated tertiary care children's hospital.Seven pediatric patients with asystole, aged 2 months to 5 yrs, who experienced eight episodes of refractory cardiac arrest and did not respond to conventional therapy.Addition of terlipressin to epinephrine during cardiopulmonary resuscitation of children.Return of spontaneous circulation was monitored and achieved in six out of eight episodes of cardiac arrest. One patient died 12 hrs after return of spontaneous circulation, and four patients survived to discharge with no neurologic sequelae.The combination of terlipressin to epinephrine during cardiopulmonary resuscitation may have a beneficial effect in children with cardiac arrest. More studies on this drug's safety and efficacy in this setting are mandated.
Objectives: Several studies have shown a linear correlation between nutritional status and pulmonary function in patients with cystic fibrosis. Our study aims were: 1) To evaluate the effect of nutritional supplementation via gastrostomy on nutritional, clinical, and pulmonary parameters, and 2) To identify predicting factors for success of long-term nutritional rehabilitation. Methods: Twenty-one Israeli patients, aged 8 months to 20 years, underwent gastrostomy insertion from 1992 to 2001. All patients were pancreatic insufficient, and all carried severe mutations (W1282X in 62% of the patients). Anthropometric and clinical data were obtained for each patient: 0−12 months before and 6−12 months and 18−24 months after gastrostomy placement. Standard deviation scores (SDS) for height, weight, and body mass index as well as percent of height-appropriate body weight were calculated. Results: The mean percent-of-predicted forced expiratory volume in 1 second (FEV1) decreased significantly during the first year of gastrostomy feeding (n = 16), from 44.2% ± 13.9 to 41% ± 13.3 (P = 0.05). However, during the second year of therapy (n = 10), a trend toward improvement was observed (from 39.4 ± 12.1 to 41.4 ± 16.1). Weight, and BMI z-scores as well as weight percent-of ideal body weight increased significantly. Height z-score for age decreased during the first year (from −1.9 ± 1.3 to −2.1 ± 1.4), However, a trend toward improvement was observed during the second year. A significant correlation was found between the change in weight z-score and height z-score during the first (r = 0.488, P = 0.016) and the second (r = 0.825, P < 0.001) years. There was no difference between compliers and noncompliers regarding height, weight, and BMI either before or after gastrostomy placement. A significant correlation between age at insertion of gastrostomy and improvement in height z-score (r = 0.52, P = 0.016) was observed. Cystic fibrosis related diabetes (n = 8) did not affect the response to supplemental feeding. Conclusions: We observed a trend toward improvement of pulmonary disease during the second year, and a significant improvement in weight, height, and BMI z-scores. Compliance, diabetes, and young age prior to tube insertion did not predict success of nutritional rehabilitation.
To assess the efficacy of transillumination of the palm of the hand in establishing venous access in small infants.One hundred infants aged 2 to 36 months were considered for venipuncture under transillumination following failure to find an accessible vein or a failed venipuncture attempt.In 40 of the 100 infants, a vein was visible with transillumination. In 22 of these children, previous attempts to achieve a venous line failed (mean number of failed venipunctures 2.11 +/- 0.6) and in 18 infants, no vein could be identified. Using transillumination, venous access was established with just one venipuncture in 39 of the 40 patients.Transillumination of the palm can aid in establishing venous access in infants. This can be easily carried out using a common otoscope.
The aim of the study was to evaluate long-term pulmonary function tests in pediatric survivors of acute respiratory distress syndrome (ARDS).Observational study based on a telephone poll of retrospectively identified post ARDS children who were hospitalized in a pediatric intensive care unit (PICU) in a general 1200-bed teaching, tertiary, regional referral center for children.Follow-up pulmonary function tests were achieved in only 7 children, with a mean age of 7.3+/-4.3 years (range 3-12) and following 5.6+/-4.3 years after PICU discharge. The etiology for ARDS included: lymphoma (n=2), pneumonia (n=2), aspiration (n=1), petrol ingestion (n=1) and snake envenomation (n=1). The children had been ventilated for 9.4+/-7.3 days and their worst PaO2/FiO2 ratio was 65.1+/-17.0 mm Hg. The follow-up pulmonary functions in all the children was within normal limits except for one child who had mildly reduced DLCO and one who had mild exercise-induced hypoxemia (oxyhemoglobin saturation of 94%). Neither of the two nor the others showed subjective symptoms or clinical physical limitations.Children who survive ARDS apparently enjoy long-term normal pulmonary function. Some, however, may present subclinical dysfunction that persists for many years after the acute episode and evoked only by sophisticated lung tests.
Cytokine-inducible leucocyte-endothelial adhesion molecules were shown to affect the postoperative inflammatory response following cardiopulmonary bypass (CPB). Soluble P-selectin (sP-selectin) is one of these molecules. We investigated the correlation between plasma sP-selectin levels and the intra- and postoperative course in children undergoing CPB.Serial blood samples of 13 patients were collected preoperatively upon initiation of CPB and seven times postoperatively. Plasma was recovered immediately and frozen at - 70 degrees C until use. Circulating soluble selectin molecules were measured with a sandwich enzyme-linked immunoabsorbent assay technique.The significant post-CPB changes in sP-selectins plasma levels were associated with patient characteristics, operative variables and postoperative course. sP-selectin levels correlated significantly with surgery time, aortic cross-clamping time and inotropic support, as well as with the postoperative Pediatric Risk of Mortality score, hypotension and tachycardia.A relation between CPB-induced mediators and both early and late clinical effects is suggested. The up-regulation and expression of sP-selectin indicate neutrophil activation as a possible mechanism for the increase, and inhibiting it may reduce the inflammatory response associated with CPB.
