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1.
Article in Chinese | WPRIM | ID: wpr-775797

ABSTRACT

OBJECTIVE@#To explore the genetic cause for a child with growth retardation by next generation sequencing (NGS).@*METHODS@#Clinical data of the patient was collected. Peripheral venous blood samples were taken from the neonate and his parents. Targeted capturing and NGS were carried out to detect mutations of genes associated with inborn errors of metabolism. Suspected mutations were validated by Sanger sequencing.@*RESULTS@#The 15-month-old female patient was admitted to hospital for growth retardation for 4 months. Hypomyelination was found upon cranium MRI. Genetic testing revealed two novel insertional mutations in the GLB1 gene in the patient, namely c.2006-2007insT and c.475-476 insGGTCC.@*CONCLUSION@#The c.2006-2007insT and c.475-476 insGGTCC mutations of the GLB1 gene probably underlie the GM1 gangliosidosis resulting in the growth retardation in the child.


Subject(s)
Female , Gangliosidosis, GM1 , Genetics , Humans , Infant , Infant, Newborn , Mutation , Pedigree , beta-Galactosidase , Genetics
2.
Article in Chinese | WPRIM | ID: wpr-707796

ABSTRACT

Objective To investigate the value of bacterial artificial chromosome-on-beads(BoBs) technology in the genetic analysis of early missed abortion chorionic villi. Methods Early missed abortion chorionic villi were detected with both conventional karyotyping method and BoBs technology in Peking Union Medical Hospital from July 2014 to March 2015. Compared the results of BoBs with conventional karyotyping analysis to evaluate the sensitivity, specificity and accuracy of this new method. Results (1) A total of 161 samples were tested successfully in the technology of BoBs, 131 samples were tested successfully in the method of conventional karyotyping.(2)All of the cases obtained from BoBs results in(2.7 ± 0.6) days and obtained from conventional karyotyping results in (22.5 ± 1.9) days. There was significant statistical difference between the two groups(t=123.315, P<0.01).(3)Out of 161 cases tested in BoBs, 85(52.8%, 85/161)cases had the abnormal chromosomes, including 79 cases chromosome number abnormality, 4 cases were chromosome segment deletion, 2 cases mosaic. Out of 131 cases tested successfully in conventional karyotyping, 79(60.3%, 79/131)cases had the abnormal chromosomes including 62 cases chromosome number abnormality, 17 cases other chromosome number abnormality, and the rate of chromosome abnormality between two methods was no significant differences(P=0.198).(4)Conventional karyotyping results were served as the gold standard, the accuracy of BoBs for abnormal chromosomes was 82.4%(108/131), analysed the normal chromosomes (52 cases) and chromosome number abnormality (62 cases)tested in conventional karyotyping, the accuracy of BoBs for chromosome number abnormality was 94.7%(108/114). Conclusion BoBs is a rapid reliable and easily operated method to test early missed abortion chorionic villi chromosomal abnormalities.

3.
Article in Chinese | WPRIM | ID: wpr-465248

ABSTRACT

Objective To explore curative effect of Xiyanping and vidarabine in treatment for children with viral encephalitis and its impact on T cells subgroup.Methods Methods In June 2012~October 2014, randomly selected 106 cases of children patients with viral encephalitis, as the research object.Randomized divided into observation group (n=53) cases, control group(n=53).Both two group were performed routine therapy, and then control group was given Xiyanping treatment, observation group was given Xiyanping combined with vidarabine treatment.1 continuous week treatment, compared two groups of T cell subgroup number and symptoms disappear time.Results In the two groups after treatment of T cell subgroup CD3 +, CD4 +,CD8 +was significant increase in the number of observation group increased number was significantly higher than the control group,and statistically significant differences ( P<0.05 ) .The observation group’s antifebrile time ( 2.5 ±1.1 ) d; headache, vomiting disappear time ( 3.6 ±2.2 ) d;disturbance of consciousness disappear time (2.6 ±1.3) d and length of hospital stay (9.3 ±2.4) d were significantly lower than the control group (4.7 ±2.8) d, (6.5 ±2.3)d, (4.3 ±2.2) d, (14.2 ±3.6) d, which were statistically significant differences (P<0.05).Observation group’s curative effect for instituting accounted for 73.58%, good rate 92.45%, were significantly higher than the control group 52.83%, 77.36%.which were statistically significant differences (P<0.05).The complication rate of observation group was 16.98%, mortality was 0%,were significantly lower than that of 33.96%, 9.43% of the control group;Cure rate of observation group (90.57%) was significantly higher than that of 49.06% of control group. Observation group severe sequela incidence 11.32% was significantly lower than that of 39.62% of control group and statistically significant differences (P<0.05).Conclusion Xiyangping combined with vidarabine in treatment for children with infantile viral encephalitis can significantly increase the number of T cell subgroup, improve immune function in children with, and curative effect is remarkable and high security.

4.
Article in Chinese | WPRIM | ID: wpr-517385

ABSTRACT

Objective To summarize the achievement and experience in leprosy control in Jiangxi Province and provide scientific basis for formulation of leprosy strategies. Methods Based on the National Leprosy Recording and Reporting System, epidemiological data of leprosy in Jiangxi Province were analyzed using computer. Results Jiangxi Province was a leprosy medium endemic area with a higher distribution of leprosy in the south than the north. The prevalence, incidence and detection rates were highest in the 1959s or 1960s and had decreased annually since then. Average incidence rate for the recent 5 years (0.1604 per 100 000) and prevalence rate (0.049 per 10 000) in 1998 reached the criteria of basic elimination of leprosy at provincial level, however, still 15 counties or cities not reaching the criteria. Conclusion The comprehensive measures including early detection of cases, immediate treatment with multidrug therapy and effective health education are helpful and important for leprosy control.

5.
Article in Chinese | WPRIM | ID: wpr-569096

ABSTRACT

The deltoid muscles on both sides of 8 male cadavers were studied within 24 hours after death. According to its fiber architecture, origins and insertions, and nerve distribution, the deltoid muscle was divided into three compartments: an anterior, a middle and a posterior. The muscle samples were taken respectively from the superficial and the deep portion of each compartment of the deltoid muscle. Frozen transverse sections were stained fer myosin ATPase. Muscle fibers were identified as type Ⅰ and type Ⅱ. The proportion of fiber types in each portion was calculated on microscopic photographs and mean cross-sectional areas of both fiber types were measured by imaging analytical system. The results showed that the proportion of type Ⅰ fiber in the superficial and deep portion of the middle compartment is significantly higher than that of the corresponding portion of the anterior and posterior compartments, and the proportion in the deep portion of each compartment is higher than that of the superficial one, however no difference was found between the left and right sides. The fiber size among all portions is not obviously different, but the diameter of type Ⅱ fiber in the deep portion of the middle compartment is significantly smaller than that of other portions. Except the deep portion of the middle compartment, the diameter of both fiber types of the right muscle is larger than those of the left one, although statistical analysis showed that the difference is not significant. The authors suggest that the difference of fiber type distribution within the deltoid muscle is closely related with the functional differentiation of the muscle and the characteristic higher typeⅠ fiber proportion and smaller type Ⅱ fiber diamiter in the deep portion of the middle compartment probably indicate that the main function of this portion is to keep the shoulder joint stability.

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