1.Clinical characteristics and management status of Turner syndrome in 1 089 children
Yan LIANG ; Haiyan WEI ; Ruimin CHEN ; Zhixin ZHANG ; Xinran CHENG ; Na TAO ; Chunlin WANG ; Yu YANG ; Ying XIN ; Xin FAN ; Xingxing ZHANG ; Geli LIU ; Shengquan CHENG ; Min ZHU ; Hongwei DU ; Yan SUN ; Linqi CHEN ; Lanwei CUI ; Xiaoping LUO
Chinese Journal of Pediatrics 2024;62(10):962-968
Objective:To investigate the clinical characteristics and management status of children with Turner syndrome (TS) in China.Methods:As a cross-sectional study, 1 089 TS patients were included in the database of the National Collaborative Alliance for the Diagnosis and Treatment of Turner Syndrome from August 2019 to November 2023. Clinical characteristics (growth development, sexual development, organ anomalies, etc.), karyotypes, auxiliary examinations, and treatments were collected and analyzed.Results:Among the 1 089 TS cases, 809 were recorded karyotypes. The karyotype distribution was as follows: 45, X in 317 cases (39.2%), X chromosome structural variants (including partial deletions of p or q arm, ring chromosome, and marker chromosome) in 89 cases (11.0%), 45, X/46, XX mosaicism in 158 cases (19.5%), mosaicism with X chromosome structural variants in 209 cases (25.8%), and presence of Y chromosome material in 36 cases (4.4%). Among the 824 TS cases, the age of diagnosis was 9.7(6.4, 12.2) years, with a height standard deviation score (HtSDS) of -3.1±1.2. Five hundred and fifty three cases underwent growth hormone (GH) stimulation test, and 352 cases (63.7%) had GH peak values <10 μg/L and 75.9% (577/760) had low IGF1 levels, with IGF1 SDS ≤-2 accounting for 38.2% (290 cases). Among 471 cases aged ≥8 years, 132 cases (28.0%) showed spontaneous sexual development (mean bone age (11.0±1.7) years), 10 cases had spontaneous menarche (mean bone age (12.0±2.2) years), and 2 cases had regular menstrual cycles. Common physical features included cubitus valgus (311 cases (28.5%)), neck webbing (188 cases (17.2%)), low posterior hairline (185 cases (17.0%)), shield chest (153 cases (14.0%)), high arched palate (127 cases (11.6%)), short fourth metacarpal (43 cases (3.9%)), and spinal abnormalities (38 cases (3.5%)). Congenital cardiovascular and urogenital anomalies occurred in 91 cases (19.4%) and 66 cases (12.0%)respectively. Abdominal ultrasound in 33 cases (7.2%) indicated fatty liver, hepatomegaly, intrahepatic bile duct stones, and splenomegaly. Among 23 cases undergoing oral glucose tolerance test (OGTT) test, 2 were diagnosed with diabetes mellitus and 4 with impaired glucose tolerance. Following diagnosis, 669 cases (80.7%) received rhGH treatment at a chronological age of (9±4) years and bone age of (8.3±3.2) years. Additionally, 112 cases (19.4%) received sex hormone replacement therapy starting at the age of (14±4) years and bone age of (12.6±1.2) years.Conclusions:The karyotypes of 45, X and mosaicism were most common in Chinese children with TS. The clinical manifestations were mainly short stature and gonadal dysplasia. However, a few TS children could be in the normal range of height, and some cases among those aged of ≥8 years old had spontaneous sexual development. Some exhibited physical features, congenital cardiovascular and urogenital anomalies, and dysfunction of the hypothalamic-pituitary-IGF1 axis. Moreover, a few of them developed impaired glucose tolerance and diabetes mellitus. Following diagnosis, most of the patients received rhGH treatment, and a few of them received sex hormone replacement therapy.
2.Application of artificial pancreas in treatment of type 1 diabetes mellitus in children
Lihong YANG ; Hai XU ; Linqi HAN ; Zhiqiang WEI ; Yan SUN
Chinese Journal of Applied Clinical Pediatrics 2024;39(10):789-792
Type 1 diabetes mellitus (T1DM) is the main type of diabetes in children, which seriously endangers children′s health.With the development of technology, the emergence of artificial pancreas has brought new progress for the treatment of T1DM.Artificial pancreas can imitate the insulin physiological secretion of pancreas β cells to control glucose, and achieve close-loop management by accurately regulating insulin infusion through continuous glucose monitoring, insulin pump and control algorithms.Here the current clinical studies on the safety, effectiveness and limitations of artificial pancreas in the treatment of T1DM were reviewed.It is expected to provide another choice for children with T1DM.
3.Determination of vitamin D3 content in cod liver oil using a column-switching technique.
Lyuye QI ; Liyuan ZHANG ; Qiaoyuan CHENG ; Linqi YAN ; Minghao ZHOU
Journal of Zhejiang University. Medical sciences 2024;53(6):779-784
OBJECTIVES:
To develop a two-dimensional liquid chromatography method to determine the content of vitamin D3 in cod liver oil preparations.
METHODS:
The samples were prepared by saponification and extraction, and the content of vitamin D3 was determined by two-dimensional liquid chromatography with dual-pump-single-valve switching dual detectors. The chromatographic column, capture device, and detection wavelength were optimized; the linearity, system suitability, recovery rate, repeatability and sample stability of the method were investigated, and further validated in actual sample determination.
RESULTS:
A column switching two-dimensional chromatography method was developed. In the first chromatography dimension, an Agilent PoroShell SB-C8 (50 mm×4.6 mm, 2.7 μm) column was used with acetonitrile-water as the mobile phase with gradient elution at a flow rate of 1.0 mL/min and detection wavelength as 264 nm. An Agilent Zorbax SB-C18 (150 mm×3.0 mm,1.8 μm) column was used in the second chromatography dimension with acetonitrile as the mobile phase at a flow rate of 0.42 mL/min, and detection wavelength as 264 nm. In determining vitamin D3 content, there was a good linear relationship in the concentration range. The system suitability, recovery rate, repeatability and sample stability all met verification requirements.
CONCLUSIONS
The two-dimensional liquid chromatography method developed in this study is accurate, reproducible and simple, and can simultaneously separate pre-vitamin D3, trans-vitamin D3, vitamin D3, and tachysterol D3.
Cholecalciferol/analysis*
;
Cod Liver Oil/chemistry*
;
Chromatography, Liquid/methods*
;
Chromatography, High Pressure Liquid/methods*
4.Simultaneous Determination of 8 Anti-infective Drugs in Anti-dandruff Hair Products by QuEChERS-liquid Chromatography Tandem Mass Spectrometry
Cen CHEN ; Yanlin GAO ; Linqi YAN ; Qianyuan CHENG
Chinese Journal of Modern Applied Pharmacy 2023;40(23):3275-3280
OBJECTIVE To establish a QuECHERS-liquid chromatography-tandem mass spectrometry method for simultaneous determination of 3 triazole antifungal drugs including itraconazole, voriconazole, posaconazole, and 5 nitroimidazoles including ronidazole, dimetridazole, secnidazole, tinidazole and ornidazole. METHODS The sample was added into 1 mL of saturated sodium chloride solution and extracted with acetonitrile, and then purified by QuECHERS method. The separation was performed on a ZORBAX SB-C18 column. The mobile phase consisted of 0.1% formic acid acetonitrile-0.1% formic acid aqueous solution by gradient elution, electrospray ionization(ESI+) source was applied and operated in the positive mode. Multiple reaction monitoring mode was used to monitor ions. Matrix-matched calibration was used to quantitative calculation. RESULTS Eight anti-infective drugs showed good linear relationship in the range of 20.0-1 000.0 ng·mL-1. The linear correlation coefficients of the method were >0.995. At three levels, the average recoveries ranged from 90.3% to 113.0%, with the RSD(n=6) from 0.4% to 2.6%. The limits of quantification of the method were among 0.056-1.89 μg·g-1, and the limits of detection were among 0.014-0.56 μg·g-1. CONCLUSION This method is rapid, accurate and has good purification effect, which can be applied to the detection of 8 anti-infective drugs in anti-dandruff hair products.
5.Research progress in cosmetic and plastic surgery of female external genitalia
Qiuyu WANG ; Qinglong YAN ; Xi YUAN ; Yujian SONG ; Le LI ; Linqi LIU ; Mi HE ; Shirong LI
Chinese Journal of Plastic Surgery 2020;36(2):216-220
Cosmetic and plastic surgery of female external genitalia is a new subject which adopts surgical or non-surgical methods to rectification of vulva and vagina.With the social progress, genitalia plastic surgery has also achieved a dramatic of development, various new technologies has been applied, and women’s genitalia plastic surgery has shown a good prospect. This review focuses on new concepts and techniques of surgery and non-surgical cosmetic surgery of female external genitalia, including the surgical methods, such as mons pubic plasty, clitoral hood plasty, labia minora reduction surgery, labia majora reduction surgery, labia majora augmentation surgery, perineoplasty, vaginoplasty, and non-surgical methods like G-spot augmentation, orgasm shot therapy, photoelectricity-energy based therapy, etc. It could help plastic surgeons and gynecologists to understand the concepts and therapeutics better in this field.
6.Research progress in cosmetic and plastic surgery of female external genitalia
Qiuyu WANG ; Qinglong YAN ; Xi YUAN ; Yujian SONG ; Le LI ; Linqi LIU ; Mi HE ; Shirong LI
Chinese Journal of Plastic Surgery 2020;36(2):216-220
Cosmetic and plastic surgery of female external genitalia is a new subject which adopts surgical or non-surgical methods to rectification of vulva and vagina.With the social progress, genitalia plastic surgery has also achieved a dramatic of development, various new technologies has been applied, and women’s genitalia plastic surgery has shown a good prospect. This review focuses on new concepts and techniques of surgery and non-surgical cosmetic surgery of female external genitalia, including the surgical methods, such as mons pubic plasty, clitoral hood plasty, labia minora reduction surgery, labia majora reduction surgery, labia majora augmentation surgery, perineoplasty, vaginoplasty, and non-surgical methods like G-spot augmentation, orgasm shot therapy, photoelectricity-energy based therapy, etc. It could help plastic surgeons and gynecologists to understand the concepts and therapeutics better in this field.
7.The role and mechanism of resveratrol on trabecular meshwork cells induced by H2O2 and TGF-β2
Yan QI ; Xiujuan ZHAO ; Linqi XU ; Xudong WU ; Jiantao WANG
Tianjin Medical Journal 2016;44(8):978-983
Objective To investigate hydrogen peroxide (H2O2) and transforming growth factor-β2 (TGF-β2) induced fibronectin (FN), collagen 1 (COL1), nuclear factor (NF)-κB P65 proteins and interlukin (IL)-1βgene expression in human trabecular meshwork cells (HTMCs), and the interventional mechanism of resveratrol (RSV). Methods (1) HTMCs with 70 to 80%confluency were divided into 5 groups. The experimental groups were treated with serum-free medium and with H2O2 at concentrations of 150, 300, 450 and 800μmol/L. The control group was treated with 0μmol/L H2O2. The protein levels of FN, COL1, NF-κB P65 and NF-κB P65 phosphorylation (P-NF-κB P65) were measured by Western blot assay. The expression of IL-1βgene was measured by qPCR. (2) HTMCs were divided into 3 groups. The control group was treated withserum-free medium and without H2O2 and RSV. The H2O2 group was treated with 300μmol/L H2O2. The H2O2+RSV group was treated with 300μmol/L H2O2 and 25μmol/L resveratrol (RSV). The expressions of proteins and genes mentioned above were detected in three groups. NF-κB P65 nuclear translocation was assessed by immunofluorescence technique. (3) HTMCs were divided into 3 groups. The control group was treated with serum-free medium and without TGF-β2 and RSV. The TGF-β2 group was treated with 5μg/L TGF-β2. The TGF-β2+RSV group was treated with 5μg/L TGF-β2 and 25μmol/L RSV. The expressions of proteins and genes mentioned above were detected in three groups. Results (1) Compared with control group, the protein levels of FN and P-NF-κB P65 were significantly increased in 150, 300, 450 and 800μmol/L groups,the expression levels of COL1 protein and IL-1β gene were significantly increased in 300, 450 and 800 μmol/L groups (P <0.05). There were no statistical significances between other indicators. (2) The expression levels of FN, COL1, P-NF-κB P65 proteins and IL-1βgene were significantly higher in H2O2 group than those in control group, and which were significantly lower in H2O2+RSV group than those in H2O2 group. Compared with control group, only the expression of IL-1βgene was decreased in H2O2+RSV group (P < 0.05). NF-κB P65 was only expressed in cytoplasm in control group, while it was expressed in both cytoplasm and nucleus in H2O2 group. Compared with H2O2 group, NF-κB P65 was mainly expressed in cytoplasm. (3) Compared with control group, the expressions of FN, COL1, P-NF-κB P65 proteins and IL-1β gene were significantly increased in TGF-β2 group (P < 0.05). Compared with TGF-β2 group, the indicators mentioned above were significantly decreased in TGF-β2+RSV group (P<0.05). Conclusion H2O2 and TGF-β2 can upregulate the expression of FN, COL1, P-NF-κB P65 proteins and IL-1βgene in HTMCs, which may be involved in the development and progression of glaucoma. RSV can inhibit the influence of H2O2 and TGF-β2 in HTMCs and exert a protective effect on glaucoma.


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