1.Effect of hypertension and dyslipidemia on cognition of urban elderly residents
Yiyi ZHANG ; Changyu NI ; Ying JIN ; Yaping HE ; Nannan FENG
Journal of Shanghai Jiaotong University(Medical Science) 2024;44(7):907-914
Objective·To explore the effects of hypertension and dyslipidemia on cognitive function in the elderly.Methods·A dynamic population cohort was established by using prospective cohort study methods.In 2019,a complete cohort was selected from residents aged 65 and above who voluntarily participated in a free physical examination program in a community in Shanghai,serving as the baseline cohort.In 2022,512 community-dwelling elderly aged 67 to 93 were randomly selected from the same community as the follow-up cohort for the study.The collected date included residents' health records,various physical examination measurements,and Mini-mental State Examination(MMSE)scale scores.Results·Of the 512 cases that were followed up,the valid sample size was reduced to 495 after data cleaning.According to the baseline and follow-up cognitive assessments and changes,the cases were categorized into three cognitive groups:the improvement group,the normal group,and the decline group.The prevalence of hypertension in the decline group was 43.14%higher than that in the improvement group and 24.39%higher than that in the normal group(66.67%in the decline group vs 23.53%in the improvement group,P=0.011;66.67%in the decline group vs 42.28%in the normal group,P=0.040).Total cholesterol(TC)in the improvement group was lower than that in the normal group[improvement group(4.38±1.04)mmol/L vs normal group(5.11±1.12)mmol/L,P=0.009].Additionally,TC in the decline group in 2022 was higher than that in 2019[paired difference(0.46±0.87)mmol/L,95%CI 0.08?0.84,P=0.021].LDL-Ch in the improvement group was lower than that in the normal group[improved group(2.51±0.92)mmol/L vs normal group(3.07±1.00)mmol/L,P=0.024],and their HDL-Ch in 2022 was higher than that in 2019[paired difference(0.16±0.20)mmol/L,95%CI 0.06?0.26,P=0.005].The results of multinomial Logistic regression showed:TC in the improved group was lower than that in the normal group[β=4.12,OR=61.64,95%CI 1.52?2494.07,P=0.029]and the decline group[β=5.88,OR=357.35,95%CI 4.54?28149.75,P=0.008];the TAG[β=1.85,OR=6.34,95%CI 1.05?38.43,P=0.045],LDL-Ch[β=5.61,OR=274.06,95%CI 3.65?20567.57,P=0.011],and hypertension[β=1.90,OR=6.69,95%CI 1.53?29.16,P=0.011]in the decline group were higher than those in the improvement group;the age of the decline group was greater than that of the normal group[β=0.08,OR=1.08,95%CI 1.00?1.16,P=0.041],and the education level was lower than that of the normal group[β=1.22,OR=3.39,95%CI 1.28?8.94,P=0.014].Conclusion·Low TC and LDL-Ch and high HDL-Ch are beneficial to cognitive improvement.Conversely,hypertension,high TC,high TAG,high LDL-Ch,low education level,and advanced ages are risk factors for cognitive decline.
2.The 500th case: pain in both hip joints, headache, and diplopia
Nannan ZHANG ; Yanlong DUAN ; Hui WANG ; Ningning ZHANG ; Jing YANG ; Meng ZHANG ; Nan LI ; Shuang HUANG ; Nan ZHANG ; Ling JIN
Chinese Journal of Internal Medicine 2023;62(2):232-236
A male child, aged 5 years and 3 months, was admitted to the Oncology Department with a history of pain in both hip joints, headache, and diplopia lasting for 40 days. Physical examination did not reveal definitive signs or obvious abnormalities in the nervous system. Imaging studies showed only abnormalities in the craniocerebrum and spinal cord. Routine cerebrospinal fluid (CSF) analysis revealed elevation in the total number of white blood cells, mainly mononuclear cells. Biochemical analysis of CSF showed normal glucose and chloride levels, and increased protein concentrations. The possibility of central nervous system (CNS) infection was initially considered. Subsequently, antibacterial and antiviral therapy was administered; however, this treatment was ineffective. Further examination of CSF through immunophenotyping revealed mature B-cell lymphoma with CNS involvement; there were no neoplastic lesions detected elsewhere in the body. Thus, the patient was diagnosed with primary central nervous system lymphoma (PCNSL). Complete remission was achieved after chemotherapy with the CNCL-2017-mature B-cell lymphoma regimen. Thus far, all chemotherapy cycles have been completed, the patient remains in complete remission, and the follow-up is ongoing. Clinicians should pay close attention to PCNSL in children.
3.Efficacy of low-dose uric acid oxidase in the treatment of 106 pediatric patients with aggressive mature B-cell non-Hodgkin lymphoma and hyperuricemia
Meng ZHANG ; Yanlong DUAN ; Ling JIN ; Jing YANG ; Shuang HUANG ; Xiaolu NIE ; Nan LI ; Nan ZHANG ; Nannan ZHANG ; Yonghong ZHANG
Chinese Journal of Applied Clinical Pediatrics 2022;37(18):1377-1381
Objective:To investigate the efficacy of low-dose uric acid oxidase in treating children with aggressive mature B-cell non-Hodgkin lymphoma accompanied by hyperuricemia.Methods:Clinical data of children with primary aggressive mature B-cell non-Hodgkin lymphoma and hyperuricemia, who were treated in Beijing Children′s Hospital, Capital Medical University from January 2016 to June 2021 were retrospectively analyzed.The serum uric acid concentration was monitored in all pediatric patients from the day before chemotherapy to the seventh day of chemotherapy.Low-dose uric acid oxidase [0.05-0.10 mg/(kg·dose)] was intravenously injected into the patients when the serum uric acid level exceeded the upper limit of the normal range.The therapeutic effect and clinical medication experience of uric acid oxidase were summarized.The change of serum uric acid levels with time before and after the application of different doses of uric acid oxidase was analyzed by a repeated measures ANOVA. Results:A total of 106 children with primary aggressive mature B-cell non-Hodgkin lymphoma and hyperuricemia were enrolled in this study.There were 88 males and 18 females, with a median age of 6.5 (3.5, 10.0) years.The pathological subtypes comprised Burkitt′s lymphoma in 95 cases (89.6%), high-grade B-cell lymphoma in 7 cases (6.6%), and diffuse large B-cell lymphoma in 4 cases (3.8%). Additionally, 39 cases (36.8%) were in clinical stage Ⅲ and 67 cases (63.2%) were in stage Ⅳ.All cases had high tumor burden, including renal involvement in 52 cases (49.1%), tumor lysis syndrome in 42 cases (39.6%), and acute kidney injury in 27 cases (25.5%). Totally, one dose of uric acid oxidase was intravenously injected into 41 children (38.7%), 41 children (38.7%) were given 2 dosages, 20 children (18.9%) were given 3 dosages, and 4 children (3.8%) received 4 dosages.Moreover, 9 cases (8.5%) were supplemented with continuous renal replacement therapy.Serum uric acid concentrations before chemotherapy and 12 hours after injecting the first dose of uric acid oxidase were (741.4±312.9) μmol/L and (210.8±148.6) μmol/L, respectively.The difference was statistically significant ( t=5.288, P<0.001). The change of serum uric acid levels over time before and after the application of different doses of uric acid oxidase in children was compared, and no significant difference was found ( F=0.225, P=0.879). No delay in chemotherapy or death arising from tumor lysis syndrome and acute kidney injury occurred within 28 days after chemotherapy. Conclusions:Low-dose and on-demand application of uric acid oxidase can rapidly and effectively reduce serum uric acid levels in children with aggressive mature B-cell non-Hodgkin lymphoma in the early stage of chemotherapy.
4.Comparison of clinical features between chronic active Epstein-Barr virus infection and infectious mononucleosis in adult patients
Qinqin PU ; Nannan HU ; Yan DAI ; Zhengyi JIANG ; Jingjing DAI ; Ke JIN ; Jun LI
Chinese Journal of Clinical Infectious Diseases 2022;15(5):360-365,378
Objective:To compare the clinical features between chronic active Epstein-Barr virus infection(CAEBV) and infectious mononucleosis(IM)in adult patients.Methods:Clinical data from 56 adult IM patients and 14 adult CAEBV patients admitted in the First Affiliated Hospital of Nanjing Medical University during January 2011 to December 2019 were enrolled. Clinical manifestations, laboratory indicators, treatment and outcomes were compared between two groups. Chi-square test and Mann-whitney U test were used to analyze data. Results:The average age of CAEBV patients was higher than that of IM patients [36.0(23.8, 50.5)years vs. 19.0(17.3, 22.8) years; U=90.0, P<0.05]. The symptoms of sore throat, throat congestion, tonsilla enlargement and lymphadenopathy in IM group were more common than those in CAEBV group( χ2=14.088, 16.875, 31.855 and 10.938, all P<0.01). However, the incidence of pulmonary infection, sleepiness/dysphoria and splenomegaly in CAEBV group were significantly higher than those in IM group( χ2=17.217, 5.809 and 6.254, P<0.05 or <0.01). The white blood cell counts, hemoglobin levels, platelet counts, alanine aminotransferase(ALT) and albumin in CAEBV group were significantly lower than those in IM group( U=47.0, 49.5, 158.5, 173.0 and 263.5, all P<0.01). The levels of neutrophil ratio, C-reactive protein, serum ferritin and EBV DNA load in CAEBV group were significantly higher than those in IM group( U=145.0, 140.0, 128.5 and 115.0, P<0.05 or <0.01). The proportions of CD3 + T cell counts and CD8 + T cell counts in CAEBV group were significantly lower compared to those in IM group( U=42.0 and 24.5, P<0.01); the proportions of CD4 + T cell counts, the CD4 + T/CD8 + T cell counts ratio and B lymphocytes in CAEBV group were significantly higher compared to those in IM group( U=29.0, 23.5 and 34.5, P<0.01). Fifty-six IM patients were all cured and discharged from hospital. In CAEBV group, 8 cases died, 3 cases were improved and 3 cases lost follow-up. Conclusions:Patients with IM represent a favorable prognosis, while the prognosis of CAEBV is relatively poor and complication with HLH may occur. For older patients with EBV infection complicated with pulmonary infection, lethargy/irritability, attention should be paid to monitor blood routine, liver function, serum EBV DNA load and peripheral blood lymphocyte subsets.
5.Q-switched 755 nm alexandrite laser combined with topical tranexamic acid in the treatment of melasma: a hemifacial randomized controlled study
Lingling ZHANG ; Xiaoying QIAN ; Yi JIN ; Nannan LIU
Chinese Journal of Plastic Surgery 2022;38(9):970-977
Objective:To evaluate the efficacy of Q-switched 755 nm alexandrite laser combined with tranexamic acid in the treatment of facial melasma.Methods:According to the inclusion and exclusion criteria, the subjects were selected from female patients with melasma who visited the Department of Dermatology of Zhejiang Rongjun Hospital from June to December 2020, the patients were divided into group A, B and C according to the random number table. The study was conducted by half face self contrast method. Group A, lesions on the left side of the face were irradiated by Q-switched 755 nm alexandrite laser with the mode of 5 mm spot, 1.6 J/cm 2 energy, 70 ns pulse width(mode A) with an interval of two weeks for 6 sessions. Meanwhile, tranexamic acid serum was applied topically on the lesions twice a day for six months. Lesions on the right side of the face, as control side, tranexamic acid serum was used in the same way as above described. Group B, lesions on the left side of the face were irradiated by Q-switched 755 nm alexandrite laser for 6 sessions with the mode of 3 mm spot, 5.0 J/cm 2 energy, 150 μs pulse width(mode B) with an interval of two weeks for 6 sessions. Meanwhile, tranexamic acid serum was applied topically on the lesions twice a day for six months. The treatment of right side of face as control side was the same as group A. The treatment method and postoperative treatment of the left face in group C were the same as those in group A left face. The treatment method and postoperative treatment of the right side face were the same as those of the left side face of group B. The treatment effect was evaluated 12 weeks after the end of laser treatment. (1) Assessment of Melasma Area and Severity Index (MASI), the score ranges from 0 to 48, with higher scores indicating more severe lesions. (2) Physician Global Assessment(PGA), the score ranged from 0 to 6, and the higher the score, the more melasma remained. (3) The patient satisfaction rate was the percentage of the total number of patients with very satisfied and satisfied cases. Measurement data to (Mean±SD), the MASI score and PGA score were compared by paired sample t-test, patient satisfaction is using chi-square test, P<0.05 was considered statistically significant. Results:A total of 90 patients were enrolled, and they were divided into A, B and C groups according to the ratio of 1∶1∶1, with 30 patients in each group. The age of patients in group A, B and C were (33.0±5.8) years, (32.3±7.2) years and (32.9±6.5) years, respectively ( P>0.05), the disease duration was (3.5±2.3) years, (3.3±1.9) years, (3.5±1.5) years, respectively ( P>0.05). Assessing the efficacy of 12 weeks after the last laser treatment: (1) MASI. The scores of both sides of the face in group A after treatment were lower than those before treatment ( P< 0.01 or <0.05), and the scores of the left side after treatment (9.67±4.10) were significantly lower than those of the right side (18.13±7.67) ( P<0.01). The scores of both sides of the face in group B after treatment were significantly lower than those before treatment ( P<0.01 or 0.05), and the scores of the left side (9.97±3.74) were significantly lower than those of the right side (18.01±7.17) after treatment ( P<0.01). The scores of both sides of the face in group C after treatment were significantly lower than those before treatment ( P<0.01), and the scores of the left side of the face after treatment (9.92±4.11) were higher than those of the right side (7.95±3.27) ( P<0.05), the effect of laser treatment in mode B was better than that in mode A. (2) PGA. The score of the left side of the face in group A was (1.63±1.32), lower than the right side of the face (2.97±1.50) ( P<0.01). The left side score of group B was (1.27 ± 1.02), which was lower than that of the right side (2.87±1.46) ( P<0.01). The left side score of group C was (1.97±1.16), higher than that of the right side (1.27±1.02) ( P<0.05). It shows that the therapeutic effect of mode B laser is better than that of mode A laser. (3) Patient satisfaction rate. The left side satisfaction rate of group A was 67% (20/30), higher than that of right side 37% (11/30) ( P<0.05). In group B, the satisfaction rate of the left side was 73% (22/30), higher than that of the right side 47% (14/30) ( P<0.05). The satisfaction rate of the left side in group C was 53% (16/30), which was lower than that of the right side 80%(24/30), indicating that the satisfaction rate of the mode B laser treatment side was higher than that of the mode A ( P<0.05). Conclusions:The treatment of Q-switched 755 nm alexandrite laser combined with topical tranexamic acid can significantly improve facial melasma, and the treatment mode with 3 mm spot, 5.0 J/cm 2 energy density, 150 μs pulse width parameters is recommended.
6.The incidence of mild cognitive impairment and influencing factors of elderly patients with subjective memory impairment
Cunmei YANG ; Juan LI ; Yixin HU ; Ying ZHOU ; Hongying MA ; Nannan JIN ; Yidan WANG
Chinese Journal of Modern Nursing 2022;28(4):470-477
Objective:To understand the incidence of mild cognitive impairment (MCI) of elderly patients with subjective memory impairment and analyze its influencing factors.Methods:A total of 322 patients with subjective memory impairment in elderly frail cognitive management clinic in General Hospital of Chinese PLA were selected by the convenient sampling method. According to the 2018 Diagnostic Criteria for Diagnosis and Treatment of Dementia and Cognitive Impairment in China, the subjects were divided into the MCI group and the non-MCI group. Demographic data, physiological factors, psychological factors, lifestyle and nutritional status of patients were collected using self-designed questionnaires. The Barthel Index Rating Scale was used to assess activity of daily living, 9-item Patient Health Questionnaire (PHQ-9) was used to assess depression and Generalized Anxiety Disorder Questionnaire (GAD-7) was used to to assess anxiety. The Pittsburgh Sleep Quality Index was used to assess sleep disturbances and Mini Nutritional Assessment Short Form (MNA-SF) was used to assess nutritional status. Univariate analysis and multivariate binary logistic regression analysis were used to explore the influencing factors of MCI in patients. Results:Among the 322 elderly patients with subjective memory impairment, 173 (53.73%) had MCI and 149 (46.27%) were non-MCI patients. Binomial Logistic regression analysis showed that reading habits, housework, social interaction, anxiety, age, depression, and sleep disturbance were the influencing factors of MCI in the elderly with subjective memory impairment ( P<0.05) . Conclusions:The incidence of MCI in elderly patients with subjective memory impairment is relatively high. The cognitive management clinic should comprehensively evaluate and analyze the influencing factors of such patients and assist patients to establish a healthy lifestyle according to their personal conditions, so as to improve their cognitive status.
7.Q-switched 755 nm alexandrite laser combined with topical tranexamic acid in the treatment of melasma: a hemifacial randomized controlled study
Lingling ZHANG ; Xiaoying QIAN ; Yi JIN ; Nannan LIU
Chinese Journal of Plastic Surgery 2022;38(9):970-977
Objective:To evaluate the efficacy of Q-switched 755 nm alexandrite laser combined with tranexamic acid in the treatment of facial melasma.Methods:According to the inclusion and exclusion criteria, the subjects were selected from female patients with melasma who visited the Department of Dermatology of Zhejiang Rongjun Hospital from June to December 2020, the patients were divided into group A, B and C according to the random number table. The study was conducted by half face self contrast method. Group A, lesions on the left side of the face were irradiated by Q-switched 755 nm alexandrite laser with the mode of 5 mm spot, 1.6 J/cm 2 energy, 70 ns pulse width(mode A) with an interval of two weeks for 6 sessions. Meanwhile, tranexamic acid serum was applied topically on the lesions twice a day for six months. Lesions on the right side of the face, as control side, tranexamic acid serum was used in the same way as above described. Group B, lesions on the left side of the face were irradiated by Q-switched 755 nm alexandrite laser for 6 sessions with the mode of 3 mm spot, 5.0 J/cm 2 energy, 150 μs pulse width(mode B) with an interval of two weeks for 6 sessions. Meanwhile, tranexamic acid serum was applied topically on the lesions twice a day for six months. The treatment of right side of face as control side was the same as group A. The treatment method and postoperative treatment of the left face in group C were the same as those in group A left face. The treatment method and postoperative treatment of the right side face were the same as those of the left side face of group B. The treatment effect was evaluated 12 weeks after the end of laser treatment. (1) Assessment of Melasma Area and Severity Index (MASI), the score ranges from 0 to 48, with higher scores indicating more severe lesions. (2) Physician Global Assessment(PGA), the score ranged from 0 to 6, and the higher the score, the more melasma remained. (3) The patient satisfaction rate was the percentage of the total number of patients with very satisfied and satisfied cases. Measurement data to (Mean±SD), the MASI score and PGA score were compared by paired sample t-test, patient satisfaction is using chi-square test, P<0.05 was considered statistically significant. Results:A total of 90 patients were enrolled, and they were divided into A, B and C groups according to the ratio of 1∶1∶1, with 30 patients in each group. The age of patients in group A, B and C were (33.0±5.8) years, (32.3±7.2) years and (32.9±6.5) years, respectively ( P>0.05), the disease duration was (3.5±2.3) years, (3.3±1.9) years, (3.5±1.5) years, respectively ( P>0.05). Assessing the efficacy of 12 weeks after the last laser treatment: (1) MASI. The scores of both sides of the face in group A after treatment were lower than those before treatment ( P< 0.01 or <0.05), and the scores of the left side after treatment (9.67±4.10) were significantly lower than those of the right side (18.13±7.67) ( P<0.01). The scores of both sides of the face in group B after treatment were significantly lower than those before treatment ( P<0.01 or 0.05), and the scores of the left side (9.97±3.74) were significantly lower than those of the right side (18.01±7.17) after treatment ( P<0.01). The scores of both sides of the face in group C after treatment were significantly lower than those before treatment ( P<0.01), and the scores of the left side of the face after treatment (9.92±4.11) were higher than those of the right side (7.95±3.27) ( P<0.05), the effect of laser treatment in mode B was better than that in mode A. (2) PGA. The score of the left side of the face in group A was (1.63±1.32), lower than the right side of the face (2.97±1.50) ( P<0.01). The left side score of group B was (1.27 ± 1.02), which was lower than that of the right side (2.87±1.46) ( P<0.01). The left side score of group C was (1.97±1.16), higher than that of the right side (1.27±1.02) ( P<0.05). It shows that the therapeutic effect of mode B laser is better than that of mode A laser. (3) Patient satisfaction rate. The left side satisfaction rate of group A was 67% (20/30), higher than that of right side 37% (11/30) ( P<0.05). In group B, the satisfaction rate of the left side was 73% (22/30), higher than that of the right side 47% (14/30) ( P<0.05). The satisfaction rate of the left side in group C was 53% (16/30), which was lower than that of the right side 80%(24/30), indicating that the satisfaction rate of the mode B laser treatment side was higher than that of the mode A ( P<0.05). Conclusions:The treatment of Q-switched 755 nm alexandrite laser combined with topical tranexamic acid can significantly improve facial melasma, and the treatment mode with 3 mm spot, 5.0 J/cm 2 energy density, 150 μs pulse width parameters is recommended.
8.Investigation of self-acceptance status and its influencing factors of elderly people in nursing home
Shanshan LI ; Caifeng LUO ; Fei LYU ; Lin FU ; Yanpeng SUN ; Nannan JIN ; Ludan ZHANG
Chinese Journal of Practical Nursing 2021;37(24):1902-1909
Objective:To understand the present situation of self-acceptance of elderly in nursing home and explore its influencing factors, so as to provide basis for improving self-acceptance level of elderly in nursing home.Methods:Totally 415 elderly people in 3 Medical and nursing homes in Fuyang city of Anhui province were selected by Self-Acceptance Scale, and influencing factors were analyzed.Results:The total score of Self-Acceptance Scale of the elderly in nursing home was (44.11±7.25) points, the score rate was 67.86% (44.11/65), in the middle level; the results of multiple linear stepwise regression showed that the relationship with children, hobbies, number of children, length of stay in nursing home, frequency of visits and age were the main influencing factors ( F value was 48.228, P<0.001). Conclusion:The self-acceptance of the elderly in nursing home is in the middle level. The nursing home or social should pay attention to the higher age group and the newly admitted elderly in nursing home, give such people timely psychological guidance, help them to plan their later life, cultivate their interests and hobbies through recreational activities, and take corresponding measures to harmonize their relationship with their children in order to improve their self-acceptance level and promote mental health.
9.The clinical efficacy of ginger in treating chemotherapy-induced nausea and vomiting in cancer patients: a systematic review
Tiantian ZHAI ; Nannan DING ; Yayun ZHAO ; Lusi PEI ; Qimei JIN ; Zhuying GAO ; Xuemei YANG
Chinese Journal of Practical Nursing 2020;36(25):1994-2001
Objective:To systematically evaluate the clinical efficacy of oral ginger capsule or ginger powder in chemotherapy-induced nausea and vomiting in cancer patients.Methods:Computers searched Chinese Journal Full-text Database (CNKI), China Biomedical Literature Database (CBM), Wanfang Database, PubMed, EMbase, Web of Science, and Cochrane Library about oral chemotherapy in patients with cancer ginger correlation clinical curative effect of nausea and vomiting randomized controlled trial, supplemented by other search methods, the time range was built until July 2019. Quality evaluation and data extraction were performed independently by two investigators, and Meta analysis was performed by RevMan5.3 software.Results:A total of 12 articles and 13 studies were included, with a total of 1 105 patients. Meta-analysis showed that oral ginger capsule or ginger powder reduced the incidence of acute vomiting (risk ratio value was 0.76, 95% confidence interval was 0.59-0.98, P<0.05) and the severity of vomiting (mean difference value was-0.79, 95% confidence interval was-1.36--0.23, P<0.01), including the severity of acute vomiting (mean difference value was-1.39, 95% confidence interval was-2.72--0.06, P<0.05) and the severity of delayed vomiting (mean difference value was-0.46, 95% confidence interval was-0.82--0.10, P<0.05). However, there was no significant difference between the two groups in the incidence and severity of acute and delayed nausea ( P>0.05). Conclusions:This study demonstrates that oral ginger capsule or ginger powder is a complementary treatment for chemotherapy-induced nausea and vomiting in cancer patients, and more high-quality studies are needed to validate its clinical efficacy in the future.
10.Genetic variant analysis of a pedigree affected with lymphedema-distichiasis syndrome.
Yuefang LIU ; Jing DING ; Yuan PENG ; Zhe LIANG ; Nannan YAN ; Xin JIN ; Fang FANG ; Xiaojing WENG ; Qiong PAN
Chinese Journal of Medical Genetics 2020;37(4):434-437
OBJECTIVE:
To analyze FOXC2 gene variant in a family affected with lymphodema-distichiasis syndrome (LDS).
METHODS:
Peripheral blood samples were collected for the extraction of DNA and protein. Whole-exome sequencing was carried out to detect variants in the proband. Suspected variant was validated by Sanger sequencing. Western blotting was used to detect changes in protein expression.
RESULTS:
The proband and his mother were both found to carry a heterozygous nonsense variant c.177C>G (p.Tyr59X) of the FOXC2 gene, which was previously unreported. Down-regulated expression of FOXC2 was detected by Western blotting. Prenatal ultrasonography of the fetus indicated increased nuchal thickness. Amniocentesis was performed at 21+1 weeks of pregnancy, genetic testing suggested that the fetus also carried the c.177C>G variant.
CONCLUSION
The patients' condition may be attributed to the heterozygous nonsense variant c.177C>G of the FOXC2 gene, which resulted in a significant decrease in FOXC2 expression. Increased nuchal thickness may also be related with decreased FOXC2 expression. Above finding has expanded the variant spectrum of the FOXC2 gene.
Codon, Nonsense
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Eyelashes
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abnormalities
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Female
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Forkhead Transcription Factors
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genetics
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metabolism
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Gene Expression
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Genetic Testing
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Genetic Variation
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Humans
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Lymphedema
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genetics
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Pedigree
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Pregnancy
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Prenatal Diagnosis

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