Laminin-α2 deficient congenital muscular dystrophy (CMD) is an autosomal recessive disorder characterized by severe muscular dystrophy, which is typically associated with abnormal white matter. In this study, we assessed 43 CMD patients with typical white matter abnormality and laminin-α2 deficiency (complete or partial) diagnosed by immunohistochemistry to determine the clinical and molecular genetic characteristics of laminin-α2 deficient CMD. LAMA2 gene mutation analysis was performed by direct sequencing of genomic DNAs. Exonic deletion or duplication was identified by multiplex ligation-dependent probe amplification (MLPA) and verified by high-density oligonucleotide-based CGH microarrays. Gene mutation analysis revealed 86 LAMA2 mutations (100%); 15 known and 37 novel. Among these mutations, 73.9% were nonsense, splice-site or frameshift and 18.8% were deletions of one or more exons. Genetic characterization of affected families will be valuable in prenatal diagnosis of CMD in the Chinese population.

The nine novel mutations identified in this study suggest the uniqueness of the PLA2G6 mutation spectrum in Chinese patients, and greatly extends the spectrum of known mutations in INAD patients. In addition to pathological evidence, genetic analysis can inform definitive diagnosis of INAD.

The aim of this study was to establish a nationwide antimicrobial resistant surveillance network and obtain information on bacterial resistance in China. A total of 4075 clinical bacterial isolates were collected from 17 hospitals in 15 cities throughout China. Antibacterial minimal inhibitory concentrations (MICs) were determined by the standard agar dilution method recommended by Clinical and Laboratory Standards Institute. The results of the MICs revealed the following bacterial resistance characteristics. Oxacillin resistance was shown by 62.9% of Staphylococcus aureus and 82.89% of Staphylococcus epidermidis strains. Penicillin non-sensitivity was show by 40.7% of the Streptococcus pneumoniae strains, which included 10.5% penicillin-resistant strains and 30.2% penicillin-intermediate strains. Five strains of Enterococci were vancomycin-intermediate, but all Enterococci strains were sensitive to teicoplanin. All Staphylococci were susceptible to glycopeptides. A high resistance to macrolides was a predominant characteristic of the Gram-positive cocci. Enterobacteriaceae strains were clearly resistant to the third generation cephalosporins, with the exception of ceftazidime, and the resistance rates ranged from 20 to 70%. About 65% of the Escherichia coli strains were resistant to fluoroquinolones. Carbapenems remained highly active against all the target bacteria. Latamoxef, piperacillin/tazobactam, cefoperazone/sulbactam and cefepime were all active against Enterobacteriaceae, which showed resistant rates of less than 10%. Imipenem resistance was found in 10.6% of Pseudomonas aeruginosa and 10.4% of Acinetobacter baumannii strains, most of which were multidrug resistant isolates. Combinations of beta-lactam/beta-lactamase inhibitor and fluoroquinolones also had potent antibacterial activity against non-fermenters. Amikacin was active against Enterobacteriaceae and P. aeruginosa. In conclusion, methicillin-resistant Staphylococci, penicillin-insensitive S. pneumoniae, macrolides-resistant Gram-positive cocci, cephalosporin-resistant Enterobacteriaceae, multidrug-resistant nonfermenters and fluoroquinolone-resistant E. coli were revealed to be the most serious problems in terms of bacteria resistance in China. No glycopeptides-resistant Staphylococcus strains were isolated, and the appearance of glycopeptides-resistant Enterococci was seldom.

SummaryVariants with a relatively high frequency in the CACNA1H gene have previously been identified in cases of childhood absence epilepsy (CAE) in the Chinese Han population most of which are located in exons 6 to 12. In present study we attempted to further investigate whether the CACNA1H gene is associated with CAE. Exons 6 to 12 of CACNA1H gene were sequenced in samples of 100 CAE trios recruited consecutively, and 191 normal human controls. Single nucleotide polymorphisms (SNPs) were studied in both single locus and haplotype analyses in 218 CAE trios, of which 118 trios were selected from our previous research. Case-control comparisons and the transmission disequilibrium test (TDT) both supported a coding SNP (cSNP) rs9934839 (R603R) in exon 9 as being close related to CAE. The carriers of the G allele of rs9934839 had a 3-fold higher risk of CAE than non-carriers. Moreover, another cSNP rs8044363 was predicted to be connected directly with CAE in a Bayesian network. In addition, two haplotypes consisting of five cSNPs in the region of CACNA1H were statistically associated with CAE. Our research provides new evidence to further support the hypothesis that CACNA1H may be an important susceptibility gene for CAE in the Chinese Han population.

This is the largest report on PLAN in the Chinese population. We suggest that PLA2G6 should be screened in any patient exhibiting progressive gait disturbance, bradykinesia, dysarthria, tremors, mood/behavior changes or cognitive decline, especially when associated with cerebellar atrophy and/or iron accumulation and/or cerebral atrophy.