Takotsubo cardiomyopathy secondary to electroconvulsive therapy in a young adult with Down syndrome regression disorder.

We report the case of an 18-year-old woman with Down syndrome (DS) who developed Takotsubo cardiomyopathy (TSC) immediately after the administration of electroconvulsive therapy (ECT), a treatment prescribed for Down syndrome regression disorder resistant to oral psychotropic drugs. TSC is a nonischemic cardiomyopathy related to psychological or physical stress, which has been described as a rare complication of ECT (Kinoshita et al., 2023, Journal of Electroconvulsive Therapy, 39, 185-192). The clinical description of the case is accompanied by a discussion of the peculiarities of the autonomic nervous system in DS.

Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.

The determination of acylcarnitines (AC) in dried blood spots (DBS) by tandem mass spectrometry in newborn screening (NBS) programs has enabled medium-chain acyl-coA dehydrogenase deficiency (MCADD) to be identified in presymptomatic newborns. Nevertheless, different confirmatory tests must be performed to confirm the diagnosis. In this work, we have collected and analyzed the NBS results and confirmatory test results (plasma AC, molecular findings, and lymphocyte MCAD activity) of forty individuals, correlating them with clinical outcomes and treatment, with the aim of obtaining useful diagnostic information that could be applied in the follow-up of the patients. Our results led us to classify patients into two groups. The first group (14 cases) had high increased octanoylcarnitine (C8) levels, biallelic pathogenic variants, and severe impaired enzyme activity (<10% of the intra-assay control (IAC)); all of these cases received nutritional therapy and required carnitine supplementation during follow-up, representing the most severe form of the disease. The second group (16 patients) was a heterogeneous group presenting moderate increases in C8, biallelic likely pathogenic/pathogenic variants, and intermediate activity (<41% IAC). All of them are currently asymptomatic and could be considered as having a milder form of the disease. Finally, eight cases presented a normal−mild increase in plasma C8, with only one pathogenic variant detected, and high−intermediate residual activity (15−100%). Based on our results, we confirm that combined evaluation of acylcarnitine profiles, genetic findings, and residual enzyme activities proves useful in predicting the risk of future metabolic decompensation, in making decisions regarding future treatment or follow-up, and also in confirming the clinical effects of unknown clinical variants.

Addition of terlipressin to initial volume resuscitation in a pediatric model of hemorrhagic shock improves hemodynamics and cerebral perfusion.

Hemorrhagic shock is one of the leading causes of mortality and morbidity in pediatric trauma. Current treatment based on volume resuscitation is associated to adverse effects, and it has been proposed that vasopressors may be used in the pharmacological management of trauma. Terlipressin has demonstrated its usefulness in other pediatric critical care scenarios and its long half-life allows its use as a bolus in an outpatient critical settings. The aim of this study was to analyze whether the addition of a dose of terlipressin to the initial volume expansion produces an improvement in hemodynamic and cerebral perfusion at early stages of hemorrhagic shock in an infant animal model. We conducted an experimental randomized animal study with 1-month old pigs. After 30 minutes of hypotension (mean arterial blood pressure [MAP]<45 mmHg) induced by the withdrawal of blood over 30 min, animals were randomized to receive either normal saline (NS) 30 mL/kg (n = 8) or a bolus of 20 mcg/kg of terlipressin plus 30 mL/kg of normal saline (TP) (n = 8). Global hemodynamic and cerebral monitoring parameters, brain damage markers and histology samples were compared. After controlled bleeding, significant decreases were observed in MAP, cardiac index (CI), central venous pressure, global end-diastolic volume index (GEDI), left cardiac output index, SvO2, intracranial pressure, carotid blood flow, bispectral index (BIS), cerebral perfusion pressure (CPP) and increases in systemic vascular resistance index, heart rate and lactate. After treatment, MAP, GEDI, CI, CPP and BIS remained significantly higher in the TP group. The addition of a dose of terlipressin to initial fluid resuscitation was associated with hemodynamic improvement, intracranial pressure maintenance and better cerebral perfusion, which would mean protection from ischemic injury. Brain monitoring through BIS was able to detect changes caused by hemorrhagic shock and treatment.

Intravenous medicine preparation technique training programme for nurses in clinical areas.

OBJECTIVE: The key objective of this study was to highlight the weak points in the medicine use process. METHOD: We collected 15 videos from eight neonatal intensive care units where staff nurses showed how medicine preparation was performed. Recorded medicines were: vancomycin (6), gentamicin (5), caffeine citrate (2) and phenobarbital (2). RESULTS: We did not review any video without errors. In 8/15 (53.3%) videos, the same syringe was used to measure the medicine and the diluent. In 8/15 (53.3%) videos, the syringes used were not the correct size for the volume being measured. In 4/15 (26.6%) videos, the volume measured into the syringes was not checked after it was measured from vials or ampoules. In just one vancomycin preparation could the reconstitution process be described as a correct process; in the other five videos, mixing after diluent addition to the vancomycin vial was almost non-existent (less than 10 s). Mixing after the medicine and diluent were in the same syringe was also non-existent in all of the videos. CONCLUSIONS: Hospitals should provide training programmes outlining the correct preparation technique.

Developmental changes and day-night expression of the gonadotropin-inhibitory hormone system in the European sea bass: Effects of rearing temperature.

The role of rearing temperature on fish development, sex differentiation and puberty has been largely addressed, but the impact of water temperature on the ontogeny of the main neuroendocrine systems controlling reproduction has received little attention. Gonadotropin-inhibitory hormone (GnIH) has been shown to act on gonadotropin-releasing hormone (GnRH) neurons and on the pituitary to inhibit gonadotropin release and synthesis in vertebrates, including sea bass, Dicentrarchus labrax. In the present study we investigated the effects of rearing temperature during the thermosensitive period (5-60days post-fertilization, dpf) on the expression of the GnIH gene (gnih) and its receptor (gnihr). Animals were maintained under two different conditions, low temperature (LT, 15°C) or high temperature (HT, 21°C), throughout the thermosensitive period and sampled from 5 to 360dpf at mid-light (ML) and mid-dark (MD). Our results showed significant effects of temperature on gnih and gnihr expression during the thermosensitive period, with higher transcript levels under LT condition. Some differences were also evident after the completion of the sex differentiation process. Moreover, we revealed daily variations in the developmental expression of gnih and gnihr, with higher diurnal mRNA levels at early stages (until 25dpf), and a shift to higher nocturnal expression levels at 300-360dpf, which corresponded with the beginning of the winter (reproductive season). To the best of our knowledge, this work represents the first study reporting the effects of rearing temperature on the transcription of gnih system genes, as well as its daily variations during the development of a fish species.

Effects of outdoor cultures on the growth and lipid production of Phaeodactylum tricornutum using closed photobioreactors.

One of the principal challenges for large scale production of microalgae is the high costs of biomass production. Aiming for minimize this problem, microalgal biodiesel production should focus on outdoors cultures, using available solar light and allowing lower energy cost process. Testing species that proved to be common and easy to culture may be a good approach in this process. The present work reports indoor-outdoor cultures of Phaeodactylum tricornutum using different bioreactors types, using cell growth, biochemical composition, and the profiles of the fatty acids produced as the parameters to test the optimization processes. The results show that the use of outdoor cultures is a good choice to obtain P. tricornutum biomass with a good potential for biodiesel production. The microalgae produced reached better growth efficiency, major lipid content and showed an increment in the percentage of saturated fatty acids (required on the biodiesel production) respect indoor cultures. These results are important to show the relevance of using outdoor cultures as a way to improve the efficiency and the energetic balance of the biodiesel production with P. tricornutum algae.

Medicine preparation errors in ten Spanish neonatal intensive care units.

This study assessed the rate of errors in intravenous medicine preparation at the bedside in neonatal intensive care units vs the preparation error rate in a hospital pharmacy service. We conducted a prospective observational study between June and September 2013. Ten Spanish neonatal intensive care units and one hospital pharmacy service participated in the study. Two types of preparation errors were considered: calculation errors and accuracy errors. A total of 522 samples were collected: 238 of vancomycin, 139 of gentamicin, 39 of phenobarbital and 88 of caffeine citrate preparations. Of these, 444 samples were collected by nurses in neonatal intensive care units, and 60 were provided by the hospital pharmacy service. Overall, 18 samples were excluded from the analysis. We detected calculation errors in 6/444 (1.35%) and accuracy errors in 243/444 (54.7%) samples from the neonatal intensive care units. In contrast, in samples from the hospital pharmacy service, no calculation errors were detected, but there were accuracy errors in 23/60 (38.3%) samples. CONCLUSION: While calculation errors can be eliminated using protocols based on standard drug concentrations, accuracy error rates depend on several variables that affect both neonatal intensive care units and hospital pharmacy services. WHAT IS KNOWN: Medication use is associated with a risk of errors and adverse events. Medication errors are more frequent and have more severe consequences in paediatric patients. Lack of knowledge of drug pharmacokinetics and pharmacodynamics in relation to physiological immaturity makes neonates more vulnerable to medication errors. WHAT IS NEW: Calculation errors are avoided using concentration standard preparation protocols. Accuracy in the preparation process depends mainly on the degree to which commercial drug preparations meet current legal requirements and the syringes and preparation techniques used.

Strategies implementation to reduce medicine preparation error rate in neonatal intensive care units.

UNLABELLED: This study assessed the rate of errors in intravenous medicine preparation at bedside in neonatal intensive care units versus preparation error rate in a hospital pharmacy service before and after several strategies were implemented. We performed a prospective observational study during 2013-2015. Ten Spanish neonatal intensive care units and one hospital pharmacy service participated in the study. Two types of preparation errors were considered, calculation errors and accuracy errors. The study was carried out over three consecutive phases: (1) pre-intervention phase, when medicine preparation samples were collected from neonatal intensive care units and hospital pharmacy service according to their normal clinical practice; (2) intervention phase, when protocol standardisation and educational strategy took place; and (3) post-intervention phase, when new medicine samples were collected after strategy implementation. In neonatal intensive care units, 1.35 % of samples registered calculation errors in pre-intervention phase; no calculation errors were registered in hospital pharmacy service samples. In post-intervention phase, no calculation errors were registered in either group. Accuracy error rate decreased both in neonatal intensive care units (54.7 vs 23 %) and hospital pharmacy service (38.3 vs 14.6 %). CONCLUSION: Calculation errors can disappear with good standardisation protocols. Decrease in accuracy error depends on good preparation technique and environmental factors. WHAT IS KNOWN: • Medication use is associated with a risk of errors and adverse events. Medication errors are more frequent and have more severe consequences in paediatric patients. • Lack of commercial drug formulations adapted to newborn infants makes medicine preparation process more prone to error. What is New: • Calculation errors are minimising using concentration standard protocols. Preparation rules are essential to ensure the accuracy process. • Environmental conditions affect the accuracy process.

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.

Mitochondrial DNA depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterised by a quantitative reduction of the mitochondrial DNA copy number. Three main clinical forms of MDS: myopathic, encephalomyopathic and hepatocerebral have been defined, although patients may present with other MDS associated clinical symptoms and signs that cover a wide spectrum of onset age and disease. We studied 52 paediatric individuals suspected to have MDS. These patients have been divided into three different groups, and the appropriate MDS genes have been screened according to their clinical and biochemical phenotypes. Mutational study of DGUOK, MPV17, SUCLA2, SUCLG1 and POLG allowed us to identify 3 novel mutations (c.1048G>A and c.1049G>T in SUCLA2 and c.531+4A>T in SUCLG1) and 7 already known mutations in 10 patients (8 families). Seventeen patients presented with mtDNA depletion in liver or muscle, but the cause of mtDNA depletion still remains unknown in 8 of them. When possible, we quantified mtDNA/nDNA and CS activity in the same tissue sample, providing an additional tool for the study of MDS. The ratio (mtDNA/nDNA)/CS has shed some light in the discrepant results between the mtDNA copy number and the enzymatic respiratory chain activities of some cases.