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Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder of long-chain fatty acid oxidation. Three clinical phenotypes, lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form, have been described in CPT II deficiency. The myopathic form is usually mild and can manifest from infancy to adulthood, characterised by recurrent rhabdomyolysis episodes. The study aimed to investigate the clinical features, biochemical, histopathological, and genetic findings of 13 patients diagnosed with the myopathic form of CPT II deficiency at Ege University Hospital. A retrospective study was conducted with 13 patients with the myopathic form of CPT II deficiency. Our study considered demographic data, triggers of recurrent rhabdomyolysis attacks, biochemical metabolic screening, and molecular analysis. Ten patients were examined for rhabdomyolysis of unknown causes. Two patients were diagnosed during family screening, and one was diagnosed during investigations due to increased liver function tests. Acylcarnitine profiles were normal in five patients during rhabdomyolysis. Genetic studies have identified a c.338C>T (p.Ser113Leu) variant homozygous in 10 patients. One patient showed a novel frameshift variant compound heterozygous with c.338C>T (p.Ser113Leu). Plasma acylcarnitine analysis should be preferred as it is superior to DBS acylcarnitine analysis in diagnosing CPT II deficiency. Even if plasma acylcarnitine analysis is impossible, CPT2 gene analysis should be performed. Our study emphasizes that CPT II deficiency should be considered in the differential diagnosis of recurrent rhabdomyolysis, even if typical acylcarnitine elevation does not accompany it. [ABSTRACT FROM AUTHOR]

Background: Membrane bioreactor (MBR) systems used for wastewater treatment (WWT) processes are regarded as clean technologies. Degradation capacity of the predator bacterium, Bdellovibrio bacteriovorus, was used as a cleaning strategy for reducing membrane fouling. Method: Wastewater with different sludge age and hydraulic retention time were filtered through Poly(ether)sulphone (PES) membranes using dead end reactor. Change in filtration performance after cleaning of membrane surface by B. bacteriovorus was measured by comparison of flux values. Bacterial community of the sludge was determined by 16SrRNA sequence analysis. Community profile of membrane surface was analyzed by fluorescent in situ hybridization technique. Results: After cleaning of MP005 and UP150 membranes with predator bacteria, 4.8 L/m2·h and 2.04 L/m2·h increase in stable flux at steady state condition was obtained as compared to the control, respectively. Aeromonas, Proteus, and Alcaligenes species were found to be dominant members of the sludge. Bdellovibrio bacteriovorus lysed pure cultures of the isolated sludge bacteria successfully. FISH analysis of the membrane surface showed that Alfa-proteobacteria are the most numerous bacteria among the biofilm community on the membrane surface. Conclusion: Results suggested that cleaning of MBR membranes with B. bacteriovorus has a potential to be used as a biological cleaning method. [ABSTRACT FROM AUTHOR]