1.Measuring the volume of insula in healthy Chinese adults of the Han nationality on the high-resolution MRI
Guangrui QI ; Nan CHEN ; Yulin GUO ; Yanbo LAI ; Xing WANG ; Rui GONG ; Kai ZHU ; Dan ZHAO ; Kuncheng LI ; Yan ZHUO ; Lin CHEN
Chinese Journal of Radiology 2010;44(6):585-588
Objective To explore the normal range of the insula volume of Chinese adults of the Han nationality and its relationship with age, which provide morphological data for the construction of database for Chinese Standard Brain.Methods This is a clinical multi-center study.One thousand Chinese healthy volunteers (age range = 18 to 70) recruited from 16 hospitals were divided into 5 groups, i.e.,Group A ( age range = 18 to 30), B ( age range = 31 to 40 ), C ( age range = 41 to 50 ), D ( age range =51 to 60), and E (age range =61 to 70).Each group contained 100 males and 100 females.All of the volunteers were scanned by MR using T1 weighted three-dimensional magnetization prepared rapid acquisition gradient echo sequence.After three dimension data reconstruction, the volumes of bilateral insula were manually measured.The volume of bilateral insula were compared by paired sample t test.The insula volumes were compared between male and female by independent sample t test, and the differences among 5 age groups were compared by one-way ANNOVA.The relationship between the volumes of insula and age,sex or cerebral volume were analyzed using bivariate correlation, respectively.Results The left snd right side volume of insula before standarized were (7764±1165) and (7387±1128) mm3 respectively, after standarized were (8413±1201 ) and (7871±1140) mm3 respectively.The left insula volume were significant larger than that of right(t = - 10.565, - 16.014,P <0.01 ).The left and fight volume of insula were (8146±1181 ) and (7735±1113) mm3 for male, and (7393±1022) mm3 and (7050±1038) mm3for female.The left and right insula volumes for male were larger than the female's(t = 10.934,9.945 ,P <0.01 ).The left and right insula volume of male after standarized were (8779±1230 ) and (8224±1081 )mm3, female were (8043±1054) and (7515±1091 ) mm3 ,the left and right insula volume of male were larger than the female's ( t = 4.858,4.632, P < 0.01 ).The left insula volumes among Group A, B, C, D,E before standarized were ( 8268±1221 ), ( 8067±1107 ), ( 7869±1109), ( 7603±1111 ), ( 6997±934 )mm3 respectively,the right were (8028±1156), (7636±1075), (7294±986), (7249±1068), (6717±916) mm3 respectively, there were significant differences among 5 groups between left and right insula volume(F= -0.361,-0.337,P <0.01 ).The left insula volume of A,B,C,D,E after standarized were ( 9093±1105 ), ( 8679±965 ), ( 8810±1136), ( 8202±980), ( 7273±940 )mm3, the right were ( 8694±1005), (8136±1100), (8034±910), (7496±990), (6989±932) mm3, there were significant differences among 5 groups between left and right insula volume(F = -0.490, -0.512,P < 0.01 ).There was significant negative correlation between the volume and age ( before standarizded:r = -0.361, -0.337, after standardized r = -0.490, -0.512, P<0.05).Before and after standardized, there was significant correlation between the volume of right and left insula and cerebral volume ( r = 0.470,0.459, P < 0.05 ).Before and after standardized, there was significant correlation between the volume of right and left insula and weight( r = 0.141, 0.092, P < 0.05 ).Conclusions 1.5 T MR scanner has high resolution, for distinguishing the white matter from the gray matter, and provide morphological data of insula for the construction of database for Chinese Standard Brain.
2.Prenatal genetic diagnosis of a case with ring chromosome 13.
Lu SUN ; Juan WEN ; Guoming CHU ; Guangrui LAI ; Rong HE
Chinese Journal of Medical Genetics 2023;40(12):1455-1460
OBJECTIVE:
To carry out cyto- and molecular genetic analysis for a fetus with a ring chromosome identified through non-invasive prenatal testing (NIPT).
METHODS:
A pregnant woman presented at the Shengjing Hospital Affiliated to China Medical University on May 11, 2021 was selected as the study subject. Maternal peripheral blood sample was screened by NIPT, and G-banded chromosomal karyotyping was carried out on amniotic fluid and peripheral blood samples from the couple. The fetus and the pregnant woman were also subjected to genomic copy number variation sequencing (CNV-seq), chromosomal microarray analysis (CMA), and fluorescence in situ hybridization (FISH) assay.
RESULTS:
NIPT result suggested that the fetus had monomeric mosaicism or fragment deletion on chromosome 13. G banded chromosomal analysis showed that both the fetus and its mother had a karyotype of 47,XX,der(13)(pter→p11::q22→q10),+r(13)(::p10::q22→qter::), whilst her husband had a normal karyotype. FISH has verified the above results. No abnormality was detected with CNV-seq and CMA in both the fetus and the pregnant woman.
CONCLUSION
The ring chromosome 13 in the fetus has derived from its mother without any deletion, duplication and mosaicism. Both the fetus and the pregnant woman were phenotypically normal.
Humans
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Pregnancy
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Female
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Ring Chromosomes
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Chromosomes, Human, Pair 13/genetics*
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In Situ Hybridization, Fluorescence
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DNA Copy Number Variations
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Prenatal Diagnosis/methods*
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Amniotic Fluid