• 2018-07
  • 2019-04
  • In conclusion we observed that the


    In conclusion, we observed that the rate of carbapenem-resistant A. baumannii was high among burn patients. In addition, the most effective drugs against A. baumannii in vitro were colistin and polymyxin B. Since resistant isolates only had blaOXA-23-like and blaOXA-24-like, it seems that carbapenem resistance in our isolates is more associated with these genes. Based on the information obtained from REP-PCR, two clones are more prevalent among burn patients. Information about clonality and type of resistance is useful in epidemiology of A. baumannii and further research is needed on burn patients with more isolates. We conclude that infection control policies and programs will be considered in order to control the dissemination of A. baumannii in burn units. Monitoring and management of A. baumannii can lead to control transmission of this organism in burn units.
    Acknowledgments This study was granted an approved research plan (Number 90126) and was financially supported by the Deputy Vice-Chancellor for research affairs of Ahvaz Jundishapur University of Medical Sciences and Infectious and Tropical Disease Research Center (Ahvaz, Iran), and we appreciate all of their support.
    Introduction Glutaric aciduria type 1 (GA-1) is an autosomal recessive organic aciduria caused by glutaryl-CoA dehydrogenase (GCDH) deficiency. This results in impaired metabolism of L-lysine, L-hydroxylysine and L-tryptophan, leading to an accumulation of glutaric A-443654 manufacturer (GA), 3-hydroxyglutaric acid (3-OH-GA), glutaconic acid, and glutarylcarnitine (C5DC). GA and 3-OH-GA are putatively neurotoxic. More than 200 disease-causing mutations in the GCDH gene (chromosome 19p13.2) have been identified. Without treatment, around 90% of patients will suffer from an acute encephalopathic crisis between 3 to 36 months of age. The crisis is often precipitated by infection, vaccination, and/or surgery. The neurological sequela is striatal injury, which manifests as dystonia and axial hypotonia. Encephalopathic crises are associated with high morbidity and mortality. Some patients develop neurological impairment but have no documented encephalopathic crisis; these are classified as insidious-onset. Macrocephaly is a common presentation during infancy, but is frequently overlooked. Due to absence of characteristic features before an encephalopathic crisis, early diagnosis is difficult. Consequently, newborn screening for GA-1 has been established. Treatment for GA-1 consists of a low lysine diet, carnitine, and high-energy intake during illness. Early diagnosis and rigorous treatment have lowered the frequency of encephalopathic crises. Despite early treatment, neurodevelopmental deficits are commonly detected. In Taiwan, newborn screening for GA-I started in 2001 and has been mandated since 2006; however there have been only a few small-scale reports describing GA-1 in Taiwan. We describe our experience with Taiwan\'s largest newborn screening population. This included eleven patients diagnosed with GA-1 (nine by newborn screening and two clinically). We have compared their outcomes.
    Discussion The incidence of GA-1 in this Taiwanese population was 1 in 106,474, which is approximately equivalent to the worldwide incidence (∼1 in 100,000). We identified nine mutations in twenty independent alleles, including two novel mutations, T36fs and N291K. The mutation IVS10-2A>C was the most common, which is compatible with previous Taiwan and Hong Kong studies. Six of our mutations have not previously been reported in Taiwan, but they have been reported in Hong Kong (IVS3+1G>A), Germany (R386X/R128Q), Turkey (R128Q), the USA (A421T/R355C) and the Netherlands (G354S). Our study enhances understanding of GA-1 mutations in Taiwan, thus helping mutational analysis. DWI and ADC maps are more sensitive when detecting acute/progressing brain damage than is conventional brain MRI. DWI and ADC maps help to differentiate between cytotoxic (restricted diffusion) from vasogenic brain edema (increased diffusion). Only a few studies have included DWI and ADC maps in their analysis of GA-1 patients. We used DWI and ADC maps to analyze brain damage; it was found that the brain edema in our patients was mainly cytotoxic edema. On analyzing the MRI features at different stages, it was found that infants as young as 12 days showed significant brain MRI abnormalities, such as widening of the sylvian fissure. This finding is consistent with the previous concept that GA1 brain damage starts prenatally.