1.Tumor necrosis factor-? gene polymorphism in obese patients with type 2 diabetes mellitus
Pingxia XIANG ; Yan LI ; Pingan ZHANG ; Zhongyuan WEN
Chinese Journal of Endocrinology and Metabolism 1986;0(04):-
CT and TT genotype frequencies of TNF-? gene at -857 site in obese patients with type 2 diabetes mellitus (DM)andcontrolgroupswithoutobesity were 0.396, 0.020 and 0.179, 0.000, and T allele 0.220 and 0.090, respectively. This finding suggests that mutation is associated with type 2 DM in obese subjects.
2.Effect of moderate exercise therapy and fracture liaison service on osteoporotic hip fracture
Pingxia ZHANG ; Yan NI ; Jun ZHENG ; Jingjing CHEN ; Yinyan GU
Chinese Journal of Practical Nursing 2021;37(30):2335-2339
Objective:To explore the clinical effect of moderate exercise therapy and fracture liaison service in osteoporotic hip fracture.Methods:From June 2018 to June 2020, 120 patients with osteoporotic hip fracture admitted to Nanjing Hospital Affiliated to Nanjing Medical University were selected. The patients were divided into study group and control group by random number table method, 60 cases in each group. The control group was treated with routine nursing and moderate exercise therapy, and the control group was treated with fracture liaison service, clinical observation and comparison of treatment compliance, bone mineral density (BMD), Numerical Rating Scale (NRS) score and nursing satisfaction before and after intervention.Results:The BMD and NRS scores in the study group were (0.90±0.25) g/cm 2, (1.0±0.3) points, higher than those in the control group (0.80±0.18) g/cm 2, (1.0±0.25) points. The difference was statistically significant ( t values were 2.514, 2.547, P<0.05). The total compliance rate and nursing satisfaction of the study group were 93.30% (56/60) and 95.00% (57/60) respectively, which were significantly higher than 80.00% (48/60) and 83.33% (50/60) of the control group. The difference was statistically significant ( χ 2 values were 4.615, 4.227, P<0.05). Conclusion:Moderate exercise therapy and fracture contact service intervention can effectively improve bone mineral density and total compliance rate, relieve pain and improve nursing satisfaction.
3.Clinical phenotype and genetic analysis of twelve children with ring chromosomes.
Hongsheng YU ; Xijiang HU ; Pingxia XIANG ; Ling LIU ; Chi ZHANG ; Hui HUANG ; Lifang NING
Chinese Journal of Medical Genetics 2023;40(2):191-194
OBJECTIVE:
To explore the prevalence and clinical manifestations of ring chromosomes among children featuring abnormal development.
METHODS:
From January 2015 to August 2021, 7574 children referred for abnormal development were selected, and their peripheral blood samples were subjected to G-banded chromosomal karyotyping analysis.
RESULTS:
Twelve cases of ring chromosomes were detected, which have yielded a prevalence of 0.16% and included 1 r(6), 2 r(9), 1 r(13), 1 r(14), 2 r(15), 1 r(21) and 3 r(X). The children had various clinical manifestations including growth and mental retardation, limb malformation, and congenital heart disease. For two children with r(9) and two with r(15) with similar breakpoints, one child with r(9) and one with r(15) only had growth retardation, whilst another with r(9) and another with r(15) also had peculiar facies and complex congenital heart disease. The r(X) has featured some manifestations of Turner syndrome.
CONCLUSION
Ring chromosomes are among the common causes for severe growth and mental retardation in children with diverse clinical phenotypes. Clinicians should pay attention to those with developmental anomalies and use chromosomal analysis to elucidate their genetic etiology.
Humans
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Ring Chromosomes
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Intellectual Disability/genetics*
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Turner Syndrome/genetics*
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Phenotype
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Heart Defects, Congenital/genetics*
4.Cytogenetic analysis on 5329 children in genetic counseling
Chi ZHANG ; Xijiang HU ; Ling LIU ; Pingxia XIANG ; Pei LENG ; Lifang NING
The Journal of Practical Medicine 2019;35(3):479-482
Objective To explore the relationship between chromosomal abnormalities and diseases in children by analyzing chromosome karyotypes. Methods The chromosome karyotype analysis of peripheral lymphocytes in 5 329 children was performed. Results In all, abnormal karyotype were found in 1 723 cases (32.33%) , in which the numerical chromosome abnormalities were detected in 1 539 (89.32%) , following by 125 cases of structural chromosome abnormalities (7.25%) , 53 cases of sex reverse syndrome (3.08%) , and 6 cases of true hermaphroditism (0.35%). The chromosome polymorphism were detected in 228 cases (4.28%). Conclusions The numerical chromosome abnormalities is most frequent chromosomal aberration and is one of the important causes that result in mental retardation, growth delay and disorders of sex development in children.