Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability.

Whole-genome microarray analysis is proven to be useful in the identification of submicroscopic copy number imbalances in families with intellectual disabilities. The first case of Xq25 duplication was identified using genome-wide array comparative genomic hybridization (array-CGH) in a 24-year-old patient with a syndromic intellectual disability. We report a 4-year-old boy with a de novo 591 kb duplication at Xq25. The duplication was first detected by a CytoScan HD array platform (Affymetrix, USA) and was confirmed by real-time quantitative PCR (qPCR) of the STAG2 gene, and by fluorescence in situ hybridization (FISH). The patient had clinical features partially consistent with published cases, including an intellectual disability and speech delay. The identification of this additional patient and a detailed analysis of duplications identified in other patient cohorts and absent in normal individuals support the existence of a rare pathological microduplication at Xq25 that encompasses STAG2.

Recognition of abdominal compartment syndrome among pediatric healthcare providers / 重庆医学

Objective To perform the sample survey on the recognition degree of abdominal compartment syndrome (ACS) among domestic pediatric healthcare providers (PHCP) Methods Three hundred self‐designed questionnaires were distributed to the participants at the twelfth Chinese Medical Association Congress of Pediatric Critical Care Medicine in November 2011 .Results A total of 194 effective questionnaires were reclaimed with the recovery rate of 64 .7% .28 .9% (56/194)of respondents did not heard of ACS .49 .5% (96/194)of them heard of ACS ,but did not contact ACS .Only 21 .6% (42/194)of respondents were well fa‐miliar with ACS .Among the medical staffs who were aware of ACS (familiar or just heard of ) ,only 7 .2% (10/138)knew the real definition of ACS .83 .3% (35/42) of respondents who were familiar with ACS used the intravesical route to measure the intra -ab‐dominal pressure(IAP) .However ,only 57 .1% (20/35)of respondents knew the correct saline volume for measuring IAP .Conclusion The recognition degree of ACS is low among domestic PHCP .It is necessary to strengthen the ACS related education among do‐mestic PHCP for increasing the awareness of ACS and promoting its treatment .