Background: and Purpose Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited disorder of fatty acid oxidation that causes lipid storage myopathy (LSM). This is the first report on MADD that describes the phenotypic and genetic features of a Malaysian cohort. Methods: Among the >2,500 patients in a local muscle biopsy database, patients with LSM were identified and their genomic DNA were extracted from muscle samples and peripheral blood.All 13 exons of the electron-transfer flavoprotein dehydrogenase gene (ETFDH) were subsequently sequenced. Fifty controls were included to determine the prevalence of identified mutations in the normal population. Results: Fourteen (82%) of the 17 LSM patients had MADD with ETFDH mutations. Twelve (86%) were Chinese and two were Malay sisters. Other unrelated patients reported that they had no relevant family history. Nine (64%) were females. The median age at onset was 18.5 years (interquartile range=16–37 years). All 14 demonstrated proximal limb weakness, elevated serum creatine kinase levels, and myopathic changes in electromyography. Three patients experienced a metabolic crisis at their presentation. Sanger sequencing of ETFDH revealed nine different variants/mutations, one of which was novel: c.998A>G (p.Y333C) in exon 9. Notably, 12 (86%) patients, including the 2 Malay sisters, carried a common c.250G>A (p.A84T) variant, consistent with the hotspot mutation reported in southern China. All of the patients responded well to riboflavin therapy. Conclusions Most of our Malaysian cohort with LSM had late-onset, riboflavin-responsive MADD with ETFDH mutations, and they demonstrated phenotypic and genetic features similar to those of cases reported in southern China. Furthermore, we report a novel ETFDH mutation and possibly the first ever MADD patients of Malay descent.

OBJECTIVES: Psychotic Symptom Rating Scale (PSYRATS) is an assessment tool to measure the severity of different dimensions of auditory hallucinations and delusions. The reliability and validity of the Korean version of PSYRATS (K-PSYRATS) were examined in Korean patients with major psychosis. METHODS: The inter-rater reliability of the K-PSYRATS was determined from the videotaped interviews of the five schizophrenic patients. To measure validity and internal consistency reliability, the 109 patients with auditory hallucinations or delusions were assessed using the K-PSYRATS, Positive and Negative Syndrome Scale (PANSS) and Clinical Global Impression-Severity (CGI-S) scale. RESULTS: K-PSYRATS was found to have excellent inter-rater reliability (intra-class correlation coefficient of auditory hallucination= 0.81, p<.001, intra-class correlation coefficient of delusion=0.97, p<.001) and internal consistency reliability (Cronbach's alpha of auditory hallucination=0.77, Cronbach's alpha of delusion=0.76). Significant correlation was found between K-PSYRATS and positive syndrome subscale of PANSS and CGI. CONCLUSION: K-PSYRATS is a useful assessment instrument for psychotic symptoms in Korea.
Delusions ; Hallucinations ; Humans ; Korea ; Psychotic Disorders ; Reproducibility of Results*

Aims: Piper nigrum L. (black pepper) is an economically important commodity plant in Malaysia, which generated RM 200.95 million from pepper export in the year of 2018. However, the increase in pepper production is restricted by diseases. Fusarium wilt is one of the major diseases of P. nigrum L. The objectives for this study were to isolate Fusarium spp. associated with Fusarium wilt of P. nigrum L. from selected pepper farms in the northwestern region of Sarawak and to characterize the Fusarium spp. isolated morphologically and molecularly. Methodology and results: Fusarium spp. were isolated from diseased root samples. The pathogen was grown on potato dextrose agar (PDA) under dark condition at circa (ca.) 25 °C for morphological characterisation. Molecular characterisation was done by using internal transcribed spacer (ITS). Phylogenetic tree was constructed to study the genetic relationship of the isolates. Fusarium solani, F. oxysporum, F. proliferatum were the three Fusarium species identified. There were variations in morphological characters observed between and among the species, including the colony form, margin, elevation, surface appearance and pigmentation. No distinctive morphological characteristic was specific to a location. In addition, growth rate, macroconidia sporulation rate, and microconidia sporulation rate of the isolates were not correlated. In molecular phylogeny, the three Fusarium species were separated into three distinct clades representing the three identified species. The genetic relatedness between isolates within each species was depicted in the tree. Conclusion, significance and impact of study Variations were observed among isolates in this study based on morphological and molecular characterization. This study would contribute information on the variations of Fusarium spp. associated with Fusarium wilt of P. nigrum L. from the northwestern region of Sarawak.
Fusarium ; Fusariosis ; Piper nigrum