Analgesia by cooling vibration during venipuncture in children with cognitive impairment.

AIM: Children with cognitive impairment experience pain more frequently than healthy children and are more likely to require venipuncture or intravenous cannulation for various procedures. They are frequently unable to report pain and often receive poor pain assessment and management. This study assessed the effectiveness of physical analgesia during vascular access in children with cognitive impairments. METHODS: We conducted a prospective randomised controlled study at a tertiary-level children's hospital in Italy from April to May 2015 to assess whether a cooling vibration device called Buzzy decreased pain during venipuncture and intravenous cannulation in children with cognitive impairment. None of the children had verbal skills and the main cognitive impairments were cerebral palsy, epileptic encephalopathy and genetic syndromes. RESULTS: We tested 70 children with a median age of nine years: 34 in the Buzzy group and 36 in the no-intervention group. Parents were trained in the use of the Noncommunicating Children's Pain Checklist--postoperative version scale, and they reported no or mild procedural pain in 32 cases (91.4%) in the Buzzy group and in 22 cases (61.1%) in the no-intervention group (p = 0.003). CONCLUSION: Cooling vibration analgesia during vascular access reduced pain in children with cognitive impairment.

Breastfeeding during pregnancy: position paper of the Italian Society of Perinatal Medicine and the Task Force on Breastfeeding, Ministry of Health, Italy.

As more women breastfeed for longer, it is increasingly likely that women may be still breastfeeding when they become pregnant again. The Italian Society of Perinatal Medicine (SIMP) Working Group on Breastfeeding has reviewed the literature to determine the medical compatibility of pregnancy and breastfeeding. We found no evidence indicating that healthy women are at higher risk of miscarriage or preterm delivery if they breastfeed while pregnant. No evidence indicates that the pregnancy-breastfeeding overlap might cause intrauterine growth restriction, particularly in women from developed countries. Little information is available on the composition of human milk of pregnant women, and we found no data on the growth of infants nursed by a pregnant woman. However, both the composition of postpartum breast milk and the growth of the subsequent newborn appear to be partly affected, at least in developing countries. SIMP supports breastfeeding during pregnancy in the first 2 trimesters, and we believe it to be sustainable in the third trimester. Based on the hypothetical risk, caution may be warranted for women at risk of premature delivery, although no evidence exists that breastfeeding could trigger labor inducing uterine contractions. In conclusion, currently available data do not support routine discouragement of breastfeeding during pregnancy. Further studies are certainly needed to explore the consequences of breastfeeding during pregnancy on maternal health, on the breastfed infant, on the embryo/fetus, and, subsequently, on the growth of the newborn.

Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.

Wolman Disease (WD) and cholesteryl ester storage disease (CESD) represent two distinct phenotypes of the same recessive disorder caused by the complete or partial deficiency of lysosomal acidic lipase (LAL), respectively. LAL, encoded by the LIPA gene, hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins. WD is a rapidly progressive and lethal disease characterized by intestinal malabsorption, hepatic and adrenal failure. CESD is characterized by hepatic fibrosis, hyperlipidemia and accelerated atherosclerosis. Aim of the study was the identification of LIPA mutations in three WD and eight CESD patients. The WD patients, all deceased before the first year of age, were homozygous for two novel mutations (c.299+1G>A and c.419G>A) or a mutation (c.796G>T) previously reported as compound heterozygosity in a CESD patient. The two mutations (c.419G>A and c.796G>T) resulting in truncated proteins (p.W140* and p.G266*) and the splicing mutation (c.229+1G>A) were associated with undetectable levels of LIPA mRNA in fibroblasts. All eight CESD patients carried the common mutation c.894G>A known to result not only in a major non-functional transcript with the skipping of exon 8 (p.S275_Q298del), but also in a minor normally spliced transcript producing 5-10% residual LAL activity. The c.894G>A mutation was found in homozygosity in four patients and, as compound heterozygosity, in association with a known (p.H295Y and p.G342R) or a novel (p.W140*) mutation in four other CESD patients. Segregation analysis performed in all patients harboring c.895G>A showed its occurrence on the same haplotype suggesting a common founder ancestor. The other WD and CESD mutations were associated with different haplotypes.