7q11.23 microduplication syndrome: neurophysiological and neuroradiological insights into a rare chromosomal disorder.

BACKGROUND: The phenotypical consequence of the heterozygous chromosome 7q11.23 interstitial microdeletion is the Williams-Beuren syndrome, a very well-known genetic multi-systemic disorder. Much less is known about the reverse condition, the heterozygous interstitial microduplication of 7q11.23 region. The first molecular cytogenetic description was published in 2005, and only after several years were the reported patients numerous enough to attempt a description of a common phenotype. METHOD: By using a broad multidisciplinary approach, we investigated 12 patients with this rare genetic anomaly. Ten of them harboured the duplication of the classical Williams-Beuren syndrome region and two a slightly larger duplication. Upon a detailed description of the clinical and psychological features, we used electroencephalography and magnetic resonance imaging to explore neurophysiological function and brain structures. RESULTS: We analysed the clinical, psychological, neuroradiological and neurophysiological features of 12 yet-unpublished individuals affected by this rare genetic anomaly, focusing specifically on the last two aspects. Several structural abnormalities of the central nervous system were detected, like ventriculomegaly, hypotrophic cerebellum, hypotrophic corpus callosum and hypoplastic temporal lobes. Although only one of 12 individuals suffered from seizures during childhood, three others had abnormal electroencephalography findings prominent in the anterior brain regions, without any visible seizures to date. CONCLUSION: Taken together, we enlarged the yet-underrepresented cohort in the literature of patients affected by 7q11.23 microduplication syndrome and shed further light on neuroradiological and neurophysiological aspects of this rare genetic syndrome.

LC-MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism.

Smith-Lemli-Opitz syndrome (SLOS) is an inherited metabolic disease in the cholesterol biosynthesis pathway which is characterised by accumulation of 7- and 8-dehydrocholesterol and by reduced cholesterol concentrations in all tissues and body fluids. With this study, we developed a new, rapid, robust and high-throughput tandem mass spectrometric method as routine application for the selective SLOS screening and therapy monitoring in serum and dried blood. After protein precipitation of 10 µL serum or 4.7 mm dried blood spot, the sum of 7- and 8-dehydrocholesterol (DHC) was analysed by rapid chromatography combined with tandem mass spectrometry. Method comparison with GC-MS was performed for 46 serum samples. A comparison between serum and corresponding dried blood spots for DHC and cholesterol was performed with 40 samples from SLOS patients. Concentrations of DHC and cholesterol were analysed in 2 dried blood samples from newborns with SLOS and 100 unaffected newborns. Intra- and inter-assay variabilities ranged between 3.7 and 17.7% for serum and dried blood spots. Significant correlations between the new LC-MS/MS method and GC-MS were determined for DHC (r = 0.937, p < 0.001) and for cholesterol (r = 0.946, p < 0.001). Significant coefficients of correlation between serum and dried blood spot samples above 0.8 were calculated for both analytes. A cut-off value of 5.95 for the ratio of DHC/cholesterol (multiplied by 1000) was found to distinguish newborns diagnosed with SLOS from normal newborns in a retrospective analysis after 5 years. The developed method enables a rapid quantification of the sum parameter 7- and 8-DHC in newborns and SLOS patients under therapy in serum as well as dried blood spot samples.

Bacteriological analysis of various environmental sources in a rural hospital.

Two hundred and five specimens from various sources of hospital ecosystem were processed for isolation of bacteria. 51.7% specimens were found positive and a total of 146 isolates were obtained. Isolation was monobacterial in 35.6% and polybacterial in 16.0%. Bacteria were recovered from discarding jar fluid (84.6%), air (73%), basin swabs (70.5%) hand wash bowl solution (64.2%), cheatle forceps (64%) and thermometer fluid (53.8%) etc. The most common bacteria isolated were P. aeruginosa, B. subtilis, Klebsiella Spp. and E. col and ciprofloxacin (72.88%) was found to be the most effective antibacterial agent.

Serotyping and transferability of drug resistance in clinical isolates of E. coli.

Forty nine multiple drug resistant strains of E. coli isolated from UTI were serotyped. The pattern was found to be 057 (eight strains); 0109 (four strains); 020, 038, 068, 0106, 0148. Rough (three each). 012, 054, 0101, 0160 (two each) and 02, 032, 046, 053, 060, 065, 090, 091, 0117, 0118, untypable (one each). The resistance pattern of all E. coli were identified and matted with recepient strain in penassay broth and in human urine. In a penassay broth transfer of resistance was demonstrated in 38 strains (77.5%) while in human urine transfer was demonstrated only in 14 strains (28.57%).