Most cases of adenylosuccinate lyase (ADSL OMIM 103050) deficiency reported to date are confined to the various European ethnic groups. We report on the first Malaysian case of ADSL deficiency, which appears also to be the first reported Asian case. The case was diagnosed among a cohort of 450 patients with clinical features of psychomotor retardation, global developmental delay, seizures, microcephaly and/or autistic behaviour. The patient presented with frequent convulsions and severe myoclonic jerk within the first few days of life and severe psychomotor retardation. The high performance liquid chromatography (HPLC) profile of the urine revealed the characteristic biochemical markers of succinyladenosine (S-Ado) and succinyl-aminoimidazole carboximide riboside (SAICAr). The urinary S-Ado/SAICAr ratio was found to be 1.02 (type I ADSL deficiency). The patient was compound heterozygous for two novel mutations, c.445C > G (p.R149G) and c.774_778insG (p.A260GfsX24).
The combinatorial effects of genistein and estrogen (E) or estrogen plus progesterone (E+P) on CFTR, AC and cAMP levels in cervix were investigated. Ovariectomised adult female rats received 50 or 100mg/kg/day genistein with E or E followed by E+P [E+(E+P)] for seven consecutive days. Cervixes were harvested and analyzed for CFTR mRNA levels by Real-time PCR. Distribution of AC and CFTR proteins in endocervix were observed by immunohistochemistry. Levels of cAMP were measured by enzyme-immunoassay. Molecular docking predicted interaction between genistein and AC. Our results indicate that levels of CFTR, AC and cAMP in cervix of rats receiving genistein plus E were higher than E-only treatment (p<0.05) while genistein plus [E+(E+P)] were higher than E+(E+P)-only treatment (p<0.05). In conclusions, increased levels of CFTR, AC and cAMP in cervix of E and E+(E+P)-treated rats by genistein could affect the cervical secretory function which could influence the female reproductive processes.
Fifty five (n=55) isolates of Escherichia coli isolated from ducks in Penang, Malaysia were examined for their susceptibility to eleven different antibiotics and assayed for the presence of plasmid DNAs. All the 55 Escherichia coli isolates were resistant (100%) to vancomycin. Higher resistance (= 60) occurred for tetracycline 51 (92.7%), ampicillin 40 (72.7%), streptomycin 37 (67.3%), and sulfamethoxazole-trimethophrim 37 (67.3%). No and low resistance was observed for nitrofurantoin (0%) and gentamicin (1.8%), respectively. The isolates also showed some intermediate resistances to all antibiotics examined except for vancomycin. The 55 Escherichia coli isolates exhibited 23 different antibiotic resistant patterns with MAR index ranging from 0.09-0.82. Majority of the Escherichia coli isolates exhibited resistant pattern of VA-C-OFX-SXT-TE-AMP-NA-KF and VA-S-C-OFX-SXT-TE-AMP-NA-KF with MAR index of 0.73 and 0.82, respectively. The smallest plasmid DNA size was 1.2 kb and the largest plasmid DNA size was 81.5 kb. 51 (93%) of the duck Escherichia coli isolates harbored plasmids. The was no direct correlation between plasmid DNA sizes and antibiotic resistant among the duck Escherichia coli isolates. Thus, the antibiotic resistant of the Escherichia coli isolates could mostly be mediated by chromosomes instead of plasmids. This study also suggests that the use of antibiotics in duck farming in Penang, Malaysia needs to be controlled to prevent the spread of multiple antibiotic resistant Escherichia coli isolates.
BACKGROUND AND AIMS OF THE WORK: Nitric oxide (NO) has been reported to enhance the production of cAMP by hydroxyapatite (HA)-induced a human osteoblast cell line (HOS cells). The aim of the present study was to test the hypothesis that exogenous NO may up-regulate the proliferation of hydroxyapatite (HA)-induced HOS cells via the cyclic-AMP-protein kinase A (PKA) pathway.