PURPOSE: This study analyzed and evaluated the demographic, clinical, and cytogenetic data [G-banded karyotyping and array-based comparative genomic hybridization (array CGH)] of patients with unexplained developmental delay or intellectual disability at a single Korean institution. MATERIALS AND METHODS: We collected clinical and cytogenetic data based on retrospective charts at Ajou University Medical Center, Suwon, Korea from April 2008 to March 2012. RESULTS: A total of 190 patients were identified. Mean age was 5.1+/-1.87 years. Array CGH yielded abnormal results in 26 of 190 patients (13.7%). Copy number losses were about two-fold more frequent than gains. A total of 61.5% of all patients had copy number losses. The most common deletion disorders included 22q11.2 deletion syndrome, 15q11.2q12 deletion and 18q deletion syndrome. Copy number gains were identified in 34.6% of patients, and common diseases among these included Potocki-Lupski syndrome, 15q11-13 duplication syndrome and duplication 22q. Abnormal karyotype with normal array CGH results was exhibited in 2.6% of patients; theses included balanced translocation (n=2), inversion (n=2) and low-level mosaicism (n=1). Facial abnormalities (p<0.001) and failure to thrive were (p<0.001) also more frequent in the group of patients with abnormal CGH findings. CONCLUSION: Array CGH is a useful diagnostic tool in clinical settings in patients with developmental delay or intellectual disability combined with facial abnormalities or failure to thrive.
Adolescent ; Adult ; Child ; Child, Preschool ; Comparative Genomic Hybridization/*methods ; Female ; Gene Dosage/genetics ; Humans ; Infant ; Intellectual Disability/*genetics ; Karyotype ; Male ; Republic of Korea ; Retrospective Studies ; Tertiary Healthcare/statistics & numerical data ; Young Adult

BACKGROUNDOver the last decade, Clostridium difficile infection (CDI) has emerged as a significant nosocomial infection, yet little has been reported from China. This study aimed to characterize the clinical and microbiological features of CDI from a hospital in Shanghai.

METHODSPatients with CDI seen between December 2010 and March 2013 were included in this study, of which clinical data were retrospectively collected. The microbiological features of corresponding isolates were analyzed including genotype by multi-locus sequence typing (MLST), antimicrobial susceptibility, toxin production, sporulation capacity, biofilm formation, and motility.

RESULTSNinety-four cases of CDI were included during this study period, 12 of whom were severe cases. By reviewing the clinical data, all patients were treated empirically with proton pump inhibitor or antibiotics or both, and they were distributed widely across various wards, most frequently to the digestive ward (28/94, 29.79%). Comparing the severe with mild cases, no significant differences were found in the basic epidemiological data or the microbiological features. Among the 94 isolates, 31 were toxin A-negative toxin B-positive all genotyped as ST37. They generated fewer toxins and spores, as well as similar amounts of biofilm and motility percentages, but exhibited highest drug resistance to cephalosporins, quinolones, macrolide-lincosamide and streptogramin (MLSB), and tetracycline.

CONCLUSIONSNo specific clinical genotype or microbiological features were found in severe cases; antimicrobial resistance could be the primary reason for epidemic strains leading to the dissemination and persistence of CDI.

Anti-Bacterial Agents ; pharmacology ; Biofilms ; drug effects ; Cephalosporins ; pharmacology ; China ; Clostridium difficile ; drug effects ; genetics ; isolation & purification ; Genotype ; Multilocus Sequence Typing ; methods ; Quinolones ; pharmacology ; Tertiary Healthcare ; statistics & numerical data ; Tetracycline ; pharmacology

Clinical laboratories for in vitro diagnostics are facing pressure to preserve cost control while providing better services through new initiatives. Laboratory automation is a partial answer to this problem, having come a long way from the early days of clinical laboratory testing. The journey and implementation of automation in the Singapore General Hospital's Clinical Biochemistry Laboratory has allowed for sustained performance in the light of increasing workload and service commitments amid an evolving healthcare environment. Key to realising predicted outcomes is the optimisation of workflow processes, reduction of errors, and spatial placement of specimen reception and analytical areas. This paper gives an overview of our experience with automation in the clinical laboratory and its subsequent impact on service standards.
Aged ; Automation, Laboratory ; Clinical Laboratory Information Systems ; organization & administration ; Clinical Laboratory Techniques ; Efficiency, Organizational ; statistics & numerical data ; Hospitals, General ; Humans ; Laboratories, Hospital ; organization & administration ; Middle Aged ; Quality of Health Care ; Singapore ; Tertiary Healthcare ; organization & administration ; User-Computer Interface ; Workload