Manejo anestésico perioperatorio de la deficiencia de acil-coenzima A deshidrogenasa de cadena muy larga / Perioperative anesthetic management of very long-chain acyl-coenzyme a dehydrogenase deficiency

La deficiencia de acil-coenzima A deshidrogenasa de cadena muy larga (VLCADD) es un trastorno infrecuente del metabolismo de β-oxidación de los ácidos grasos que origina susceptibilidad a hipoglucemia, fallo hepático, cardiomiopatía y rabdomiólisis durante las situaciones catabólicas. Reportamos el caso de un varón de 10 años de edad programado para la colocación de catéter venoso central totalmente implantado durante su hospitalización por rabdomiólisis, que fue exitosamente gestionada con anestesia general con óxido nitroso, sevoflurano y remifentanilo. No se produjo hipoglucemia y los niveles de creatina quinasa no se incrementaron durante el periodo perioperatorio. Describimos las dificultades a que nos enfrentamos, y las estrategias utilizadas para evitar mayor descompensación de la enfermedad debida al estrés quirúrgico.(AU)

Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a rare disorder of β-oxidation fatty acid metabolism that results in susceptibility to hypoglycemia, liver failure, cardiomyopathy and rhabdomyolysis during catabolic situations. We report the case of a 10-year-old male undergoing a totally implanted central venous catheter placement during hospitalization for rhabdomyolysis, who was successfully managed with general anesthesia with nitrous oxide, sevoflurane and remifentanil. No hypoglycemia occurred and creatine kinase levels did not increase in the perioperative period. We describe the challenges encountered and the strategies used to avoid further decompensation of the disease due to surgical stress.(AU)

VLCAD inhibits the proliferation and invasion of hepatocellular cancer cells through regulating PI3K/AKT axis

PurposeVery-long-chain acyl-CoA dehydrogenase (VLCAD) is an essential mediator in fatty acid metabolism. The progression of human hepatocellular carcinoma (HCC) is closely associated with the disorder of energy supply. Here, we aimed to investigate the role and underlying molecule mechanism of VLCAD in pathological process of HCC.MethodsIn this study, VLCAD was induced silencing and overexpression using small hairpin RNA (shRNA) and lentiviral-mediated vector in HCC cell lines. The proliferation of HCC cells was determined using CCK-8 assay. Transwell assay and lung metastasis were performed to analysis cell metastasis in vitro and in vivo. ECAR and OCR were used to evaluate the activity of glycolysis and mitochondrial oxidative phosphorylation.ResultsOur data indicated that VLCAD was downregulated in human HCC tissues and cells. VLCAD overexpression strongly suppressed the proliferation and metastasis of HCC cells associating with the decrease of ATP accumulation and glycolysis activity. Importantly, the PI3K/AKT inhibitor LY294002 strongly abolished the role of shVLCAD in HCC cells. Our results suggested that VLCAD suppressed the growth and metastasis in HCC cells by inhibiting the activities of glycolysis and mitochondrial oxidative phosphorylation metabolism via PI3K/AKT pathway.ConclusionsTogether, present findings not only demonstrated the protective role of and molecular network of VLCAD in HCC cells but also indicated its and potential use as a target in the therapy of HCC.

Deficiência da desidrogenase de 3-hidroxi-acil-coa de cadeia longa no feto e fígado gordo agudo da gravidez / Long-chain 3-hidroxyacyl-coenzyme-A-dehydrogenase foetal deficit and acute fatty liver in pregnancy

As interações materno-fetais são determinantes para a saúde materna e o desfecho perinatal. Podem ocorrer doenças hepáticas específicas da gravidez, nomeadamente no fígado gordo agudo da gravidez e síndrome hemolysis, elevated liver enzymes and low platelets (HELLP). Apesar de a sua etiopatogenia não estar completamente esclarecida, tem sido associada a anomalias na oxidação dos ácidos gordos pelo feto, particularmente com defeitos da oxidação de ácidos gordos de cadeia longa. Relatamos o caso clínico de uma gestação complicada por fígado gordo agudo da gravidez, na qual foi detetada a mutação 1 528 G>C em homozigotia no recém-nascido e em heterozigotia em ambos os progenitores. O rastreio de distúrbios da oxidação de ácidos gordos e especificamente de deficiência da desidrogenase de 3-hidroxi-acil-coa de cadeia longa (LCHAD) deve ser feito a recém-nascidos de mães que apresentem complicações na gravidez, como fígado gordo agudo da gravidez ou síndrome HELLP severo ou recorrente

Maternal-foetal interactions are critical determinants of maternal health and perinatal outcome. Liver diseases uniquely related to pregnancy may develop, including acute fatty liver of pregnancy and HELLP (hemolysis, elevated liver enzymes and low platelets) syndrome. Although the etiopathogenesis has not been completely elucidated, these diseases have been associated with foetal fatty oxidation disorders, particularly correlated with foetal defects of long-chain fatty oxidation. We report a clinical case of a complicated pregnancy with an acute fatty liver of pregnancy and the detection of mutation 1528G>C in the newborn's and both parents' homozygote. Screening for fatty acid oxidation disorders and specifically long-chain 3-hidroxyacyl-coenzyme-A- dehydrogenase deficiency (LCHAD) should be carried out with newborns from mothers with hepatic complications during pregnancy such as acute fatty liver of pregnancy or severe or recurrent HELLP syndrome