ABSTRACT
The clinical data of a child with MORC2 gene mutation related neurodevelopmental disorder treated in Fujian Medical University Union Hospital in July 2020 were analyzed retrospectively.The male (7-year-old)patient was global retardation from infant, with special face, short stature, small head circumference, decreased muscle strength and positive pyramidal tract sign of lower limbs.Brain magnetic resonance imaging was similar to the changes of Leigh syndrome.Genetic testing found de novo mutation in MORC2 gene chr22: 31345763, c.292G>A(p.Gly98Arg). And literature review found that there was only one related report. MORC2 gene mutation related neurodevelopmental disorder is a newly discovered syndrome, and c. 79G>A(p.Glu27Lys) is the most common mutation.This case enriched the clinical phenotype and genotype of neurodevelopmental disorder related to MORC2 gene.
ABSTRACT
Objective:To investigate the relationship between mandibular second molar calcification stage and cervical vertebrae maturity.Methods:Samples were derived from panoramic radiographs and lateral cephalograms of 500 subjects (223 males and 277 females)aged 9 to 18 years.Demirjian Index(DI)and cervical vertebrae maturation indicators(CVMI)were used for the evaluation of dental and skeletal maturity.Results:A significantly association was found between DI and CVMI(P <0.001).DI stage E was associated with CVMI Ⅱ(pre-peak of pubertal growth spurt).DI stages F and G was associated with CVMI Ⅲ and Ⅳ(peak of pu-bertal growth spurt).DI stage H was associated with CVMI Ⅴ and Ⅵ(end of pubertal growth spurt).Conclusion:DI and CVMI are significantly associated.Mandibular second molar DI stage is a reliable indicator of skeletal maturity.
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Objective To study change of the declarative memory in patients with the calcification of the pallidum.Method The Chinese version of Wechsler Memory Scale(WMS-RC)test and dmwing forgetting curve were applied in 30 patients and 30 normal controls.Results There was no differences in the WMS-CR test's scores between the two groups.The patients had poorly memory preservation rate at the delays of 2 hours((64.10±0.87)%Vs(44.83±1.57)%,P<0.01),despite normal memory preservation rate over 30 mins and the similar slope after the delays of l day in the forgetting curve.There were negative correlations between the size of calcification and the memory preservation rate at the delays of 2 hours and 9 hours(r=-0.743,r=-0.483.P<0.01).Conclusion The results may reflect the effect of the pallidum on"slower confiolidation"declamtive memory process which aroused by a consequence of the repeated firing of hippocampal-neocortieal connections while the patients have normal memory encoding and retrieval.
ABSTRACT
This paper introduces the testing methods with respect to the major parameters (X-ray tube voltage & current,exposure time,exposure volume)of X-ray machine as well as the testing results evaluation and application. It is proved that quality control of x-ray machine is an important content and technical means as to guarantee quality for radiology department of hospital.