CLAPO syndrome: Effective response to treatment with oral rapamycin.

CLAPO syndrome (Capillary vascular malformation of the lower lip, Lymphatic malformations of the head and neck, Asymmetry and Partial or generalized Overgrowth) is a nonfrequent pathology. This syndrome is characterized by the capillary malformation (CM) of the lower lip, a very important clinical sign when diagnosing CLAPO. The aim of our report is to demonstrate that rapamycin could be a reliable and safe targeted therapy in lymphatic malformations (LMs). This drug is useful in reducing the LM's size before final surgical treatment. The clinical and radiological evolution of a patient with CLAPO syndrome is reported in this article, before and after the treatment with rapamycin.

Analysis of standard concentrations of continuous infusions in nine Spanish neonatal intensive care units.

OBJECTIVES: The aim of this study was to describe the use of standard concentrations for continuous infusion drugs in Spanish neonatal intensive care units (NICUs). METHODS: We conducted an observational multicentre study based on a survey sent by email to 9 Spanish NICUs during January and February 2018. We collected data on intravenous drugs frequently used in neonates, and their preparation. Continuous infusion drugs with a standard concentration implemented in ≥2 NICUs were selected. An analysis of the concentrations reported was performed, and the rate of adherence to international recommendations of the Institute of Safe Medication Practice (ISMP) and Vermont Oxford Network (VON) was calculated. RESULTS: From 69 drugs mentioned in the survey, 14 were included in the study, with all but one (furosemide) being considered high-alert medications by the ISMP. From the 9 participating NICUs, 3 had no established standard concentrations for any of the 14 drugs selected. In the other participating NICUs, dexmedetomidine was used with a standard concentration in the 3 NICUs which used the drug, whereas furosemide showed the lowest implementation rate (a standard concentration was implemented in 2 of the 7 NICUs which used the drug). In regard to concentrations adopted in the different NICUs, 80 variations were identified for the 14 drugs. The mean number of different standard concentrations for each drug per NICU was 2 (range 1-5). Adherence to ISMP/VON recommendations varied considerably depending on the drugs, from high adherence for heparin (2/3) and fentanyl (2/3) to low adherence for norepinephrine (0/4). CONCLUSIONS: The establishment of standard concentrations is highly recommended for continuous infusion medications as an effective error-prevention strategy. Nevertheless, we detected a low implementation rate in our NICUs and a lack of consistency in the concentrations selected.

Intravenous drug use in neonatal intensive care units.

OBJECTIVES: Intravenous drug use in neonates is frequent and prone to medication errors. The aim of this study was to describe the intravenous drugs most frequently used in Spanish Neonatal Intensive Care Units (NICU), their preparation and the implementation rate of standardised concentration infusions. METHODS: We conducted an observational multicentre study based on a survey sent by email to nine Spanish NICUs during January and February 2018. We collected data describing the intravenous drugs frequently used in neonates and their preparation. A descriptive analysis of the medicines reported (and their preparation) was performed, to assess how frequently standard concentrations were used and how medications were prepared in central pharmacies. RESULTS: Overall, 69 different drugs were reported by participating NICUs. Of these, 33% (n=23) were not approved for use in neonates and 38% (n=26) corresponded to high-alert medications, according to the Institute for Safe Medication Practices. A mean of only 63.5% of intravenous medicines were standardised. The standard-concentration implementation rate was somewhat higher for intermittent (mean 74.1%) than continuous (mean 42.9%) infusions. Notably, infusions were more commonly prepared on wards than in hospital pharmacies. CONCLUSIONS: Intravenous drug use in NICUs has been identified as a high-risk process, and error-reduction strategies (such as concentration standardisation) have been recommended. Further data are necessary to design the most suitable intervention in our country (Spain), but institutional initiatives are needed to achieve this.

NMR-based newborn urine screening for optimized detection of inherited errors of metabolism.

Inborn errors of metabolism (IEMs) are rare diseases produced by the accumulation of abnormal amounts of metabolites, toxic to the newborn. When not detected on time, they can lead to irreversible physiological and psychological sequels or even demise. Metabolomics has emerged as an efficient and powerful tool for IEM detection in newborns, children, and adults with late onset. In here, we screened urine samples from a large set of neonates (470 individuals) from a homogeneous population (Basque Country), for the identification of congenital metabolic diseases using NMR spectroscopy. Absolute quantification allowed to derive a probability function for up to 66 metabolites that adequately describes their normal concentration ranges in newborns from the Basque Country. The absence of another 84 metabolites, considered abnormal, was routinely verified in the healthy newborn population and confirmed for all but 2 samples, of which one showed toxic concentrations of metabolites associated to ketosis and the other one a high trimethylamine concentration that strongly suggested an episode of trimethylaminuria. Thus, a non-invasive and readily accessible urine sample contains enough information to assess the potential existence of a substantial number (>70) of IEMs in newborns, using a single, automated and standardized 1H- NMR-based analysis.