Clinical and genetic analysis of a child with Cerebral creatine deficiency syndrome due to variant of SLC6A8 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical features and genetic variant in a child with Cerebral creatine deficiency syndrome (CCDS).@*METHODS@#A child who had presented at the Affiliated Children's Hospital of Fudan University on March 5, 2021 was selected as the study subject. Whole exome sequencing (WES) was carried out for the child, and candidate variant was verified by Sanger sequencing. The level of creatine in the brain was determined by magnetic resonance spectroscopy.@*RESULTS@#The patient, a 1-year-and-10-month male, had presented with developmental delay and epilepsy. Both his mother and grandmother had a history of convulsions. MRS showed reduced cerebral creatine in bilateral basal ganglia and thalamus. The child was found to harbor a hemizygous splicing variant of the SLC6A8 gene, namely c.1767+1_1767+2insA, which may lead to protein truncation. The variant was not found in the public databases. Both his mother and grandmother were heterozygous carriers for the same variant.@*CONCLUSION@#The hemizygous c.1767+1_1767+2insA variant of the SLC6A8 gene probably underlay the CCDS in this child. Discovery of the novel variant has also expanded the mutational spectrum of the SLC6A8 gene.

Lowing-IOP effect of endoscopic cyclophotocoagulation combined with phacoemulsification and IOL in rabbit chronic glaucomatous eye / 中华实验眼科杂志

Background Endoscopic cydophotoeoagulation (ECP) combined with phacoemulsification (Phaco) and intraocular lens (IOL) (ECP+Phaco+IOL) surgery has been widely used,but its lowing intraocular pressure (IOP) effect is unclear.Objectives This study was to investigate the lowing-IOP effect of ECP+Phaco+ IOL in chronic glaucoma.Methods This experimental process was approved by Experimental Animal Ethics Committee of Medical College of Nanchang University.Chronic glaucoma models were established bilateral eyes of 30 pigmented rabbits using laser 360°trabecular meshwork photocoagulation.Forty-eight model eyes were randomized to four groups.ECP of 180°,270° and 360° was performed in the A,B and C groups,respectively,and Phaco+IOL was simultaneously carried out;while trabeculectomy (Trab) combined with Phaco+IOL surgery (Trab+ Phaco+IOL) was performed in the D group.IOP was measured and compared by iCare rebound tonometer before surgery and 1 day,1 week,2 weeks,1 month,3 months and 6 months after surgery.Results The IOP was(13.31±1.85)mmHg before surgery and that in 1 week after surgery was (33.19±5.59)mmHg,with a significant difference between them (t=94.676,P=0.000).No significant difference was seen among the four groups before operation (P＞0.05).The IOP was significantly lower in the C group compared with the A group and B group in postoperative 1 day (P =0.001,0.035),and in the first week after operation,the IOP was significantly lower in the C group than that of the A group (P=0.013).In the second week after operation,the IOP of the B group was considerably lower than that of the A group,and that of the C group was significant reduced in comparison with the B group (P=0.002,0.006).The IOP was lowest in the C group in postoperative 1 month in comparison with the A,B and C groups (P=0.001,0.009,0.026),and lower IOP was found in the C group compared with the A group in 3 months and 6 months after operation (P=0.008,0.011).In addition,the lowing-IOP range was larger in the group compared with the A group and B group in2 weeks and 1 month after operation (2 weeks:P=0.018,0.014;1 month:P=0.024,0.016).No serious complication was found in various groups.Conclusions Both ECP+Phaco+IOL and Trab+Phaco+IOL can reduce IOP effectively and safely.The lowing-IOP effect is better in larger range of cyclophotocoagulation eye during the ECP+ Phaco+IOL surgery.

Clinical study and analysis of pathogenic bacteria of pulmonary infection in patients with terminal cancer / 中国基层医药

Objective To analyze of pathogenic bacteria of pulmonary infection in patients with terminal cancer.Methods The clinical data were retrospectively analyzed including the general cultivation of pathogenic bac-teria in sputum and the results of drug sensitivity of hospitalization of patients with lung cancer from July 2013 to May 2014.Results 132 strains of pathogenic bacteria were cultured from120 cases of patients with pulmonary infection, including gram-negative bacilli accounted for the vast majority of 27.3%,accounted for 59.8% of Gram-positive coc-ci,Ranked in the top 5 pathogenic bacteria were Streptococcus pneumoniae,Staphylococcus aureus,Candida albicans, Klebsiella pneumoniae,there arevarying degrees of resistance to commonly used antibiotics in bacteria.Conclusion Selecting and using the antimicrobial agents according to the results of pathogen detection in patients,could improve the effectiveness of antibiotic treatment and reduce bacterial resistance.