Does EMLA cream application interfere with the success of venipuncture or venous cannulation? A prospective multicenter observational study.

UNLABELLED: Venipuncture and intravenous cannulation are the most common painful procedures performed on children. The most widely used topical anesthetic is eutectic mixture of local anesthetics (EMLA). EMLA use is associated with a transient cutaneous vasoconstriction which can make it difficult to identify veins. We assessed with a prospective, multicenter, observational study whether EMLA interferes with venipuncture and intravenous cannulation. The primary study outcome was a success at first attempt in the course of venipuncture or venous cannulation. The study enrolled 388 children; 255 of them received EMLA and 133 did not. Eighty-six percent of procedures were successful at the first attempt in the EMLA group and 76.7 % in the no EMLA group. CONCLUSION: In this study, EMLA use did not interfere with the success of venipuncture or venous cannulation in children.

Spectrin extractability from erythrocytes in Duchenne muscular dystrophy patients and carriers and in other myopathies.

Spectrin extractability was measured in the erythrocyte membranes from patients with Duchenne Muscular Dystrophy (DMD), from DMD definite carriers (in whom serum creatine kinase (CK) was also measured) and patients affected by other myopathies. After the extraction of spectrin from ghosts with EDTA, membrane proteins were examined using sodium dodecyl sulfate-polyacrylamide gel electrophoresis. Spectrin extractability was also investigated in the presence of an excess of calcium. Spectrin extraction from erythrocyte ghosts was significantly reduced with respect to controls in DMD patients, in DMD definite carriers and in patients affected by limb-girdle dystrophy, but not in patients suffering from other non-dystrophic myopathies. Fifty percent of DMD definite carriers showed a reduced extraction of spectrin and some of them had normal serum CK. Reduced extractability was also observed in red blood cells incubated in media containing excess calcium. Our results could suggest that reduced spectrin extractability is connected with a modification of intracellular calcium levels.

Staphylococcus epidermidis isolation and antibiotic resistance in a neonatal intensive care unit.

Bacterial ecology was studied in 1114 newborns (355 at term, 759 preterm) admitted to a neonatal intensive care unit (NICU) during a three year period. Bacterial samples were taken in each newborn from external ear canal, pharynx and eyes in all patients, and from endotracheal tube, umbilical catheter and blood in selected patients. The predominant flora was characterized by gram-positive microorganisms (63.53%), Staphylococcus epidermidis representing 34.68% of all isolated strains. S. epidermidis isolation increased significantly with time (p < 0.002) and was highest in summer. The percentage of S. epidermidis resistant strains to oxacillin (63.8%) and to amikacin (17.8%) was high. This is the antimicrobial combination we commonly employ as empirical treatment of suspected bacterial infection in our NICU. Knowledge of characteristics of local microbial flora seems important in order to optimize preventive and therapeutic policies for neonatal infections.

Reproductive failure and parental chromosome abnormalities.

The effect of ascertaining on estimates of the frequency of parental chromosome abnormalities in couples with a previous history of pregnancy wastage was investigated by comparing three samples which differ in the ascertainment modality but not in the cytogenetical approach. The incidence of chromosome abnormalities was higher in the sample of 441 couples selected essentially on clinical criteria (6%) than in the two samples (659 and 479 couples) selected retrospectively from the files of two cytogenetic laboratories (4.6 and 3.2%). The comparison of these results with similar data, based on large samples reported in the literature, indicated that sample size may be relevant in producing the wide ranges of variation of the frequency of chromosomal abnormalities. Using our data and those from three other samples of greater than 300 couples a reasonable estimate of the overall incidence of chromosomal abnormalities in couples with a previous history of fetal wastage is approximately 5%.

Ceftazidime pharmacokinetics in preterm newborns on the first day of life.

Ceftazidime pharmacokinetics were studied in 13 preterm newborns requiring antibiotic treatment, following intramuscular administration of a 50 mg/kg dose in the first 24 hours of life. The main pharmacokinetic parameters (peak concentration, time to reach peak, plasma half-life, area under the curve, elimination constant, distribution volume and plasma clearance) were determined directly from the serum concentrations observed. The clinical and bacteriological response to ceftazidime treatment was good; no side effects or alterations of biohumoral parameters were noted.

Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations.

We report a case of an unusual prenatal presentation of polycystic kidneys associated with multiple skeletal limb defects, including polydactyly, syndactyly, bilateral agenesis of the tibia, and club foot. The ultrasonographic picture was consistent with a diagnosis of polycystic kidney disease, either the adult onset autosomal dominant type (ADPKD) or the early onset autosomal recessive form (ARPKD). However, there was a positive family history for ADPKD. Linkage analysis was performed in 10 family members, of whom four were affected, using six flanking DNA markers tightly linked to the PKD1 locus on chromosome 16p, and one marker linked to the putative PKD2 locus on chromosome 2p. Lod score determinations indicated that the affected gene in the family is most likely PKD1. The patient inherited the disease linked haplotype from his affected mother.

Gene linkage analysis and DNA based detection of autosomal dominant polycystic kidney disease (ADPKD) in a newborn infant. Case report.

Bilateral polycystic kidneys were detected by ultrasound at 23 weeks gestation in a male fetus. Bilateral renal cysts were subsequently also found in the asymptomatic propositus' mother and grandmother, suggesting the diagnosis of autosomal dominant polycystic kidney disease (ADPKD). The renal ultrasonograms showed cortical cysts with normal or decreased-sized kidneys. Renal function was normal. Seven available members of the family were genotyped for flanking DNA markers tightly linked to the PKD1 gene on chromosome 16p, and for a polymorphism close to a second putative disease gene (PKD2) on chromosome 2. The genetic linkage approach allowed us to detect with a high degree of accuracy the ADPKD1 at risk chromosome in the three patients, as well as in a 28-year-old unaffected female. This report illustrates the feasibility and the usefulness of recent molecular genetic strategies for diagnostic purposes in ADPKD, especially when clinical and radiological data are atypical. Furthermore, it also confirms that early or very early onset forms of the disease are not uncommon, and should be considered in the differential diagnosis of childhood cystic disease.