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Background and aims: Primary hypobetalipoproteinemia is generally considered a heterogenic group of monogenic, inherited lipoprotein disorders characterized by low concentrations of LDL cholesterol and apolipoprotein B in plasma. Lipoprotein disorders include abetalipoproteinemia, familial hypobetalipoproteinemia, chylomicron retention disease, and familial combined hypolipidemia. Our aim was to review and analyze the results of the molecular analysis of hypolipidemic patients studied in our laboratory over the last 15 years. Methods: The study included 44 patients with clinical and biochemical data. Genomic studies were performed and genetic variants were characterized by bioinformatics analysis. A weighted LDL cholesterol gene score was calculated to evaluate common variants associated with impaired lipid concentrations and their distribution among patients. Results: Twenty-three patients were genetically confirmed as affected by primary hypobetalipoproteinemia. In this group of patients, the most prevalent mutated genes were APOB (in 17 patients, with eight novel mutations identified), SAR1B (in 3 patients, with one novel mutation identified), ANGPTL3 (in 2 patients), and MTTP (in 1 patient). The other 21 patients could not be genetically diagnosed with hypobetalipoproteinemia despite presenting suggestive clinical and biochemical features. In these patients, two APOB genetic variants associated with lower LDL cholesterol were more frequent than in controls. Moreover, the LDL cholesterol gene score, calculated with 11 SNPs, was significantly lower in mutation-negative patients. Conclusions: Around half of the patients could be genetically diagnosed. The results suggest that, in at least some of the patients without an identified mutation, primary hypobetalipoproteinemia may have a polygenic origin. © 2019 Elsevier B.V.

BACKGROUND: Autosomal dominant hypercholesterolemia (ADH) is associated with mutations in the low-density lipoprotein (LDL) receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9) genes, and it is estimated to be greatly underdiagnosed. The most cost-effective strategy for increasing ADH diagnosis is a cascade screening from mutation-positive pro bands. OBJECTIVE: The objective of this study was to evaluate the results from 2008 to 2016 of ADH genetic analysis performed in our clinical laboratory, serving most lipid units of Catalonia, a Spanish region with approximately 7.5 million inhabitants. METHODS: After the application of the Dutch Lipid Clinic Network (DLCN) clinical diagnostic score for ADH, this information and blood or saliva from 23 different lipid clinic units were investigated in our laboratory. DNA was screened for mutations in LDLR, APOB, and PCSK9, using the DNA-array LIPOchip, the next-generation sequencing SEQPRO LIPO RS platform, and multiplex ligation dependent probe amplification (MLPA). The Simon Broome Register Group (SBRG) criteria was calculated and analyzed for comparative purposes. RESULTS: A total of 967 unrelated samples were analyzed. From this, 158 pathogenic variants were detected in 356 patients. The main components of the DLCN criteria associated with the presence of mutation were plasma LDL cholesterol (LDLc), age, and the presence of tendinous xanthomata. The contribution of family history to the diagnosis was lower than in other studies. DLCN and SBRG were similarly useful for predicting the presence of mutation. CONCLUSION: In a real clinical practice, multicenter setting in Catalonia, the percentage of positive genetic diagnosis in patients potentially affected by ADH was 38.6%. The DLCN showed a relatively low capacity to predict mutation detection but a higher one for ruling out mutation. (C) 2018 National Lipid Association. All rights reserved.

BACKGROUNDThe risk of transfusion-transmitted infection (TTI) has been minimized by introduction of nucleic acid testing (NAT) and pathogen inactivation (PI). This case report describes transmission of human immunodeficiency virus Type 1 (HIV-1) to two recipients despite these measures. STUDY DESIGN AND METHODSIn March 2009 a possible TTI of HIV-1 was identified in a patient that had received pooled buffy coat platelet concentrate (BC-PLT) in November 2005. The subsequent lookback study found two more patients who had received methylene blue (MB)-treated fresh-frozen plasma (FFP) and red blood cells (RBCs) from the same donation. In November 2005 the donor had tested negative for both HIV antibodies and HIV-1 RNA by 44 minipool (44 MP) NAT. Repository samples of this donation and samples from the recipients were used for viral load (VL) and sequence analysis. RESULTSHIV-1 RNA was detectable by individual donation (ID)-NAT in the repository sample from the 2005 window period donation and a VL of 135 copies/mL was measured. HIV-1 infection was confirmed in both recipients of both BC-PLT (65 mL of plasma) and MB-FFP (261 mL of plasma), but not in the patient that had received 4-week-old RBCs (20 mL of plasma). The sequence analysis revealed a close phylogenetic relationship between the virus strains isolated from the donor and recipients, compatible with TTI. CONCLUSIONSApproximately 17,600 and 4400 virions in the MB-FFP and BC-PLT were infectious, but 1350 virions in the RBCs were not. ID-NAT would have prevented this transmission, but the combination of MP-NAT and MB-PI did not.

15 páginas, 4 tablas, Les publicacions adreçades a l’estudi de la fauna aquàtica invertebrada a la comarca de la Garrotxa són relativament escasses. En aquest estudi es contribueix al coneixement de les comunitats de macroinvertebrats aquàtics a la Garrotxa amb un llistat d’espècies a partir de mostres recollides a 29 punts de mostreig en els cursos fl uvials de la Garrotxa, corresponents a les conques dels rius Ter i Fluvià. En total es varen determinar 163 espècies, incloent 39 dípters quironòmids, 28 efemeròpters, 21 coleòpters, 19 tricòpters, 14 plecòpters, 14 odonats i 11 mol·luscs. Dues espècies de dípters chironomids (Diptera: Chironomidae) són cites noves per a la Península Ibèrica: Micropsectra logani (Edwards) i Stempellinella fl avidula (Johannsen). També es destaca la contribució d’aquest estudi al coneixement de la distribució d’algunes espècies, i es descriuen breument les condicions ambientals dels punts mostrejats., El fi nançament per dur a terme el present estudi va ser proporcionat per l’Ajuntament d’Olot a través de la beca Oriol de Bolòs de Ciències Naturals.

Background: Familial hypobetalipoproteinemia (FHBL), characterized by extremely low levels of plasma apolipoprotein (apo) B and cholesterol associated with low-density lipoproteins (LDLc), is considered to be an autosomal co-dominant disorder of heterogeneous origin. The main genetic disorder associated with FHBL consists of mutations in the APOB gene, while other less frequent forms are associated with mutations in NPC1L1, PCSK9, a still unidentified gene in 3p21.1-22 and, more recently, in ANGPTL3. Methods: We scanned for ANGPTL3 mutations in 4 unrelated Spanish families with FHBL criteria but negative for mutations in APOB. The entire coding region and intron-exon boundaries of the ANGPTL3 gene were amplified and sequenced. Results: Two probands were positive for the same frameshift mutation, a deletion of 5. bp in codon 121 in ANGPTL3, which produces a truncated protein of 122 residues. This mutation in homozygosis was associated in both families with combined hypolipidemia, characterized by low plasma apoB, low total, LDL and HDL cholesterol and low triglycerides. Conclusion: We confirm the existence of a new phenotype of FHBL, denominated familial combined hypolipidemia, which consist of a biochemical phenotype of low LDLc, low apoB, low TG and, unlike APOB mutations, low HDL cholesterol, due to a loss-of-function mutation in ANGPTL3. © 2011 Elsevier B.V.

El correcto manejo de la medicación crónica no relacionada con la cirugía adquiere un papel relevante ya que en todo el mundo millones de pacientes se someten año tras año a intervenciones quirúrgicas. El equipo asistencial debe tener presente la importancia de continuar o suprimir determinados fármacos durante el perioperatorio ya que algunos de ellos se consideran un factor de riesgo en el desarrollo de complicaciones. La cuestión fundamental es diferenciar la medicación necesaria de la innecesaria, o bien perjudicial. Éste es un aspecto complejo y todavía poco estudiado lo cual dificulta en algunos casos la toma de decisiones y conlleva a la coexistencia de diversas tendencias de práctica clínica. En este trabajo se revisan los aspectos que condicionan la suspensión o continuidad de la medicación crónica que no está relacionada con la cirugía y se proporcionan recomendaciones prácticas para el manejo de la misma en base a la bibliografía disponible. The correct management of chronic medications not related with surgical procedures in the perioperative period has a relevant place because each year millions of patients around the world undergo surgical procedures. For this reason the assitencial team should be aware of the importance of continuate or discontinuate determinate drugs during perioperative period because some of them are considered an importat risk factor in the development of complications. The key is to diferentiate necessary from innecessary medication. This is a complex aspect, little studied, which dificults clinical decisions and favours the coexistence of several trends of clinical practice. The purpose of this review is to describe the factors that determinate the continuity or suspension of chronic medications which are not related with surgery in the perioperative period and to provide practice recommendations in lights of available publications.

Objetivo: Evaluar el grado de hipernutrición del paciente crítico en tratamiento con nutrición parenteral (NP) en una unidad de cuidados intensivos (UCI) polivalente. Ámbito: Pacientes en tratamiento con NP en una UCI polivalente. Estudio prospectivo de cuatro meses de duración. Intervención: Se cuantificó la dosis diaria de glucosa, lípido y nitrógeno procedente de la NP, la nutrición enteral (NE), el suero glucosado (SG) y el propofol. Se valoró la dosis diaria de glucosa y lípido administrado por vía intravenosa (IV) respecto al valor recomendado (4-5 mg/kg/min y 1,5 g/kg/día, respectivamente) y respecto a la dosis prescrita en la pauta de NP. Se evalúo el aporte calórico total diario (IV más NE) respecto al valor recomendado (25-35 kcal/kg/día). Resultados: Se estudiaron 30 pacientes que totalizaron 488 días con NP. La dosis diaria total de lípido IV (NP más propofol) superó el valor recomendado el 23,2% de los días con propofol (13 de 56) y el 3,7% de los días sin propofol (16 de 432). La dosis diaria total de glucosa IV no superó ningún día el umbral máximo de metabolización. El 28,2% de los días con NE y el 39,6% de los días sin NE la dosis diaria total de glucosa IV superó la pauta de NP. Igualmente el 41% de los días con propofol la dosis diaria total de lípido IV superó la pauta de NP. El aporte calórico total (IV más NE) sobrepasó el valor recomendado el 46,9 % de los días con NE (51 de 109) y el 5% de los días sin NE (19 de 379). Conclusión: La glucosa procedente del SG y el lípido del propofol no se descuentan de forma rutinaria de la pauta de NP. Se demuestra una tendencia a sobrenutrir al paciente crítico, especialmente los días en tratamiento simultáneo con NP y NE. Objective: To assess the degree of hypernutrition of critically-ill patients under treatment with parenteral nutrition (PN) in a multi-purpose intensive care unit (ICU). Scope: Patients under treatment with parenteral nutrition in a multi-purpose intensive care unit. Prospective study lasting four months. Intervention. The amounts of the daily dose of glucose, lipids and nitrogen were calculated in PN, enteral nutrition (EN), dextrose solution (DS) and propofol. The daily dose of glucose and lipid administered intravenously (IV) was assessed with respect to the recommended value (4-5 mg/kg/min and 1.5 g/kg/day, respectively) and with respect to the dose prescribed in the PN regime The total daily calorie intake (IV plus EN) was assessed with respect to the recommended value (25-35 kcal/kg/day). Results: The study involved 30 patients totalling 488 days with PN. The total daily dose of IV lipids (PN plus propofol) exceeded the recommended value on 23.2% of the days with propofol (13 of 56) and on 3.7% of the days without propofol (16 of 432). The total daily dose of IV dextrose did not exceed any day the maximum metabolization threshold. On 28.2% of the days with EN and 39.6% of the days without EN, the total daily dose of IV dextrose exceeded the PN regimen. Similarly, on 41% of the days with propofol, the total daily dose of IV lipids exceeded the PN regimen. The total calorie intake (IV plus EN) exceeded the recommended value on 46.9% of the days with EN (51 of 109) and on 5% of the days without EN (19 of 379). Conclusion: The glucose of dextrose solution and the propofol lipid are not routinely discounted from the PN regime. A trend towards hypernutrition of the criticallyill patient is shown, especially on days with simultaneous treatment with PN and EN.

Objetivo: Evaluar el grado de hipernutrición del paciente crítico en tratamiento con nutrición parenteral (NP) en una unidad de cuidados intensivos (UCI) polivalente. Ámbito: Pacientes en tratamiento con NP en una UCI polivalente. Estudio prospectivo de cuatro meses de duración. Intervención: Se cuantificó la dosis diaria de glucosa, lípido y nitrógeno procedente de la NP, la nutrición enteral (NE), el suero glucosado (SG) y el propofol. Se valoró la dosis diaria de glucosa y lípido administrado por vía intravenosa (IV) respecto al valor recomendado (4-5 mg/kg/min y 1,5 g/kg/día, respectivamente) y respecto a la dosis prescrita en la pauta de NP. Se evalúo el aporte calórico total diario (IV más NE) respecto al valor recomendado (25-35 kcal/kg/día). Resultados: Se estudiaron 30 pacientes que totalizaron 488 días con NP. La dosis diaria total de lípido IV (NP más propofol) superó el valor recomendado el 23,2% de los días con propofol (13 de 56) y el 3,7% de los días sin propofol (16 de 432). La dosis diaria total de glucosa IV no superó ningún día el umbral máximo de metabolización. El 28,2% de los días con NE y el 39,6% de los días sin NE la dosis diaria total de glucosa IV superó la pauta de NP. Igualmente el 41% de los días con propofol la dosis diaria total de lípido IV superó la pauta de NP. El aporte calórico total (IV más NE) sobrepasó el valor recomendado el 46,9 % de los días con NE (51 de 109) y el 5% de los días sin NE (19 de 379). Conclusión: La glucosa procedente del SG y el lípido del propofol no se descuentan de forma rutinaria de la pauta de NP. Se demuestra una tendencia a sobrenutrir al paciente crítico, especialmente los días en tratamiento simultáneo con NP y NE.