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Background: E. coli is a common cause of urinary tract infection and bacteremia in humans. That is frequently resistant to β-lactam

Background: Infantile neuroaxonal dystrophy is an autosomal recessive neurological disorder. Individuals with infantile neuroaxonal dystrophy experience progressive loss of vision, mental skills and muscular control, and other variable clinical signs. Pathogenic variants in the PLA2G6 gene, encoding phospholipase A2, are recognized to be the fundamental reason for infantile neuroaxonal dystrophy. This study aimed to detect pathogenic variant in a consanguine Iranian family with infantile neuroaxonal dystrophy. Methods: The mutation screening was done by whole exome sequencing followed by direct Sanger sequencing. Results: We identified a homozygous insertion mutation, NM_003560: c.1548_1549insCG (p.G517Rfs*29) in exon 10 of PLA2G6 in the patient. The parents were heterozygous for variant. Conclusions: Because of the clinical heterogeneity and rarity of infantile neuroaxonal dystrophy, whole exome sequencing is critical to confirm the diagnosis and is an excellent tool for INAD management.

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Background: A major problem in the treatment of the infectious diseases healthcare centers is extended-spectrum beta-lactamase (ESBL)-producing bacteria. Objectives: The aim of present study was to identify the antibiotic sensitivity pattern and prevalence of the blaCTX, blaTEM, and blaSHV genes in Escherichia coli and Klebsiella pneumoniae strains. Methods: In this study, E. coli and K. pneumoniae specimens were collected in Shushtar hospitals, Khuzestan (southwest Iran), from March to October 2015. Sensitivity antibiotic pattern performed by disc diffusion method. Double disc synergy test (DDST) done for identifying ESBLs isolates and PCR for blaTEM, blaSHV, and blaCTX-M genes. Results: One hundred E. coli and 30 K. pneumoniae isolates were collected from different specimens. The highest rates of antibiotic resistance related to cefotaxime and aztreonam in E. coli and K. pneumoniae. ESBL-harboring K. pneumoniae and E. coli were 13.5 and 28%, respectively. Overall, bla TEM was the most prevalent ESBL gene. Conclusions: In this study, the rate of antibiotic resistance was high, and due to the carrying of coding genes on mobile genetic elements and the ability of these elements to carry genes that create resistance to other antibiotic families, identification and isolation of these isolates are essential to find effective antibiotics and eliminate the infection.