1.Medical treatment of peripheral precocious puberty
Chinese Journal of Applied Clinical Pediatrics 2016;31(20):1591-1594
The etiology of peripheral precocious puberty(PPP) is complex and varied,which is mainly categorized into either genetic or acquired disorders.Albright-McCune syndrome and familial male-limited precocious puberty are the 2 most important genetic PPPs.The purposes of therapy are to halt pubertal development and restore sex steroids to prepubertal values and delayed rate of skeletal maturation in order to maximize height potential.The several major categories of clinical drugs for PPP include anti estrogen/androgen,estrogen receptor blocker,aromatase inhibitors and cytochrome P450 inhibitors and so on.
2.Agent's right for patients without capability of independent choice in clinical practice
Xuan YANG ; Yanli TAN ; Luhong ZHANG
Chinese Journal of Hospital Administration 2010;26(2):137-140
It is found in clinical practice that decisions made by agents on hehalf of the patients without capability of independent choice may sometimes conflict interests of the patient in question. The author summarized by categories common dilemmas faced by clinicians, and came up with the ethical principles to resolve the problems, as proven in case studies. Doctors should fully respect reasonable decisions of agents of such patients. Furthermore, to make a reasonable decision on their behalf, the agent is expected to make medical decisions in the interests of the life and health of the patient, with adequate knowledge of the disease, therapeutic measures and outcomes, and without any damage to interests of the patient they represent. Such a reasonable decision should neither violate laws of the state, nor infringe on interests of other individuals, collectives and the society at large for benefits of the patient in question. In addition, it should conform to the medical ethics of fair distribution of health resources.
3.Improving thermal stability of xylanase by introducing aromatic residues at the N-terminus.
Wenqin BAI ; Luhong YANG ; Yanhe MA
Chinese Journal of Biotechnology 2014;30(8):1217-1224
Thermophilic and alkalophilic xylanases have great potential in the pulp bleaching industry. In order to improve the thermal stability of an alkaline family 11 xylanase Xyn11A-LC, aromatic residues were introduced into the N-terminus of the enzyme by rational design. The mutant increased the optimum temperature by 5 degrees C. The wild type had a half-time of 22 min at 65 degrees C and pH 8.0 (Tris-HCl buffer). Under the same condition, the mutant had the half-time of 106 min. CD spectroscopy revealed that the melting temperature (T(m)) values of the wild type and mutant were 55.3 degrees C and 67.9 degrees C, respectively. These results showed that the introduction of aromatic residues could enhance the thermal stability of Xyn11A-LC.
Endo-1,4-beta Xylanases
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chemistry
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Enzyme Stability
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Hydrogen-Ion Concentration
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Protein Engineering
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Temperature
4.Thalassemic serum panel reaction antibody inhibits proliferation and differentiation of cord blood hematopoetic stem cells in children patients
Jianpei FANG ; Wenjun WENG ; Yanfeng WU ; Xingge YANG ; Luhong XU ; Honggui XU ; Jing WEI
Chinese Journal of Tissue Engineering Research 2008;12(51):10129-10133
BACKGROUND: Panel reaction antibody (PRA) plays an important role in rejection of recipients undergoing solid organ transplantation, which has a positive effect on nonfunction of implant. OBJECTIVE: To evaluate the effect of thalassemic serum-specific PRA on the proliferation and differentiation of umbilical cord blood hernatopoetic stem/progenitor cells (HSC/HPCs) in children patients with thalassemia. DESIGN, TIME AND SETTING: The in vitro cytology experiment was performed at the Experimental Research Center, Second Affiliated Hospital, Zhongshan University from January 2006 to August 2007. MATERIALS: Five samples of umbilical cord blood from healthy full-term birth puerperants (each 80 100 mL) were used in this study. PRA serum samples of children patients with thalassemia after repetitive blood transfusion, five samples of AB blood grouping serum, and six samples of positive anticoagulation vein blood (10 mL) were used in the study. METHODS: Mononuclear cells were harvested from umbilical cord blood by Ficoll-Hypaque gradient centrifugation. 1 × 105 rnononuclear cells from umbilical cord blood were incubated with different levels of experimental or AB control serum (0, 50, 100 μ L) from healthy children. The mixture mentioned above was incubated with rabbit complement for semisolid colony culture.MAIN OUTCOME MEASURES: Colony-forming units (CFU) were counted and observed after 7 days and 14 days of culture under an inverted microscope.RESULTS: After incubation with HSC/HPCs PRA serum, total number of CFUs and varied CFUs decreased to different extents, of which the total number of CFUs and CFU- granulocyte-rnacrophages (CFU-GM) had significant differences (P < 0.01). Moreover, there were negative correlations between different levels of serum PRA and the followings: number of total colonies, CFU- GM, CFU- granulocyte-erythrocyte-monocyte-megakaryocytes, CFU-erythroids, burst forming unit-megakaryocytes, and CFU-megakaryocytes (P < 0.05).CONCLUSION: The thalassemic serum PRA has an apparent inhibitory effect on the proliferation and differentiation of cord blood HSC/HPCs in vitro, an effect that may be pronounced with increasing serum PRA.
5.Etiological analysis of vaginal bleeding in girls
Luhong YANG ; Hui YAO ; Xiaoli HUANG ; Ruizhen LI ; Yuan QIN ; Jinping LI
Chinese Journal of Applied Clinical Pediatrics 2015;30(8):600-603
Objective To investigate the etiological factors fc,r abnormal vaginal bleeding in girls.Methods Data of 65 female children aged from 3 months and 10 years old with abnormal vaginal bleeding,who were treated in Department of Endocrinology,Wnhan Children's Hospital from March 2009 to October 2013 were collected by using medical records and follow-ups.By means of pelvic ultrasound,bone age assessment,hysteroscope,hormone level and genetic testing,the causes of the disease were analyzed.Results Of 65 patients,37 cases had breast developed,21 ca-ses had nipple,areola and vulva pigmentation increased,16 cases with genital secretions increasing and odor,the height growth in 21 cases accelerated,abdominal pain was presented in 5 cases,and 6 cases had skin milk coffee spots.The leading etiological factors for vaginal hemorrhage in these girls were sexual precocity.The peripheral precocious puberty accounted for the first place (30/65 cases,46.2%),and followed by the central precocious puberty (20/65 cases,30.8 %).Hyperphlogosis accounted for 12.3 % (8/65 cases),vaginal foreign body accounted for 6.2 % (6/65 cases),and genital tract tumors accounted for 4.6% (3/65 cases).In the 30 peripheral precocious puberty cases,exogenous precocious puberty accounted for 16.9% (11 cases),8 cases(12.3%) were of solitary ovarian cyst,8 cases(12.3%) of McCune-Albright syndrome,and 3 cases of ovarian tumors.In the 20 central precocious puberty cases,idiopathic central precocious puberty accounted for 18.5% (12 cases),4 cases(6.2%) were of organic disease of central nervous system,and 4 cases (6.2%) of hypothyroidism.Of 65 children,12 cases lost follow-up and 1 case abandoned treatment.The rests received appropriate treatment according to different causes,and the vaginal bleeding were effectively controlled after 3 months to 2.5 years of follow-ups without recurrence of bleeding.But there were 2 cases of isolated ovarian cyst and 3 cases of McCune-Albright syndrome turned into central precocious puberty.Conclusions Endocrine diseases are the common factors for children's vaginal bleeding.Neoplasm is not rare in girl's abnormal vaginal hemorrhage.
6.The analysis of gene mutation and diagnosis and treatment of 5α-reductase 2 deficiency in a child
Ruizhen LI ; Shuang LI ; Jing WU ; Jun WANG ; Hui YAO ; Xiaoli HUANG ; Xiaohong CHEN ; Luhong YANG ; Yuan QIN
Journal of Clinical Pediatrics 2017;35(4):296-299
Objective To explore the clinical feature and gene mutation in steroid 5α-reductase 2 deficiency (SRD5A2). Method The clinical data of SRD5A2 in a child with vulva abnormality as the first manifestation was retrospectively analyzed. Results This was a 29-month-old child, whose social gender was female. The level of her basic luteinizing hormone (LH) was 0.07 mIU/mL, and follicle-stimulating hormone was (FSH) 0.39 mIU/mL. The baseline levels of testosterone (T), dihydrotestosterone (DHT), 17-hydroxyprogesterone (17-OHP) and androstendione (A2) were 0.06 ng/mL, 19.67 pg/mL, 1.20 ng/mL, and 0.07 ng/mL respectively. Those levels were 3.65 ng/mL, 68.25 pg/mL, 51.72 ng/mL, and 14.70 ng/mL respectively after Human chorionic gonadotropin (HCG) stimulation. The levels of her anti-mullerian hormone (AMH) was 22.97 ng/mL, and inhibin B (INH-B) was 274.4 pg/mL. The uterus and ovaries were not detected by Pelvic ultrasound and MRI. The chromosome showed 46, XY. Sex determination (SRY) gene detection showed normal. Androgen receptor (AR) gene detection showed negative. There was pathogenic mutation of 5α-reductase 2 (SRD5A2) gene in peripheral blood of the child and her parents. The penis grows 2 cm after 4 months of treatment with 2.5% DHT gel. Conclusion SRD5A2 is diagnosed mainly based on the increase of T/DHT after HCG stimulation experiment and it can be confirmed by detection of pathogenic SRD5A2 mutation.
7.Impact of renal denervation on expression of renalase and tyrosine hydroxylase in adult rats with spontaneous hypertension.
Yunzhong GUO ; Luhong LI ; Lihua TAN ; Xiaohong TANG ; Qiong YANG ; Weihong JIANG
Journal of Central South University(Medical Sciences) 2012;37(8):829-833
OBJECTIVE:
To investigate the impact of renal denervation on the blood pressure, plasma renalase content and expression of renalase and tyrosine hydroxylase (TH) in the idney of spontaneous hypertensive (SH) rats and to explore the role of renal denervation in lowering the blood pressure.
METHODS:
SH rats were randomly assigned into a baseline group, a surgery (renal denervation) group, a sham group and a control group (n=48). WKY rats matched in age (n=12) served as a baseline control group. All rats were housed until 12 weeks old. Then, the rats in the baseline group and the WKY group were sacrificed whose blood and kidney were collected for examination. In the renal denervation group, the sham group and the control group, the blood pressure was monitored continuously. One week and 6 weeks after the renal denervation, 6 rats in each group were sacrificed whose blood and kidney were collected. ELISA was employed to measure the plasma renalase and Western blot assay done to detect the expression of TH and renalase in the kidney.
RESULTS:
Compared with WKY rats, blood pressure significantly increased and TH protein expression markedly elevated (P<0.05) in SH rats in the baseline group, but plasma renalase content and protein expression of renalase in the kidney dramatically reduced (P<0.05). One week after the surgery, the mean arterial pressure and TH protein expression in the surgery group were lowered compared with the baseline group and dramatically reduced compared with the sham group and the control group (P<0.05). In the surgery group, the renalase level was markedly increased compared with the baseline group, the sham group, and the control group (P<0.05). Six weeks after the renal denervation, the mean arterial pressure and TH level in the surgery group were significantly increased but the renalase content and expression markedly reduced compared with those 1 week, but there were no marked differences among the surgery group, the sham group, and the control group (P>0.05). No pronounced differences in the above variables were found between the sham group and the control group at any time point (P>0.05).
CONCLUSION
Renal denervation can lower the blood pressure, which may attribute to the suppression of sympathetic nerves, increase in plasma renalase content and renalase expression in the kidney.
Animals
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Blood Pressure
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physiology
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Hypertension
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surgery
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Kidney
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enzymology
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innervation
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Male
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Monoamine Oxidase
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blood
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metabolism
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Rats
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Rats, Inbred SHR
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Sympathectomy
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methods
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Sympathetic Nervous System
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physiopathology
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Tyrosine 3-Monooxygenase
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metabolism
8.Clinical and genetic analysis of a child with Schaaf-Yang syndrome.
Juan LUO ; Xiaohong CHEN ; Hui YAO ; Luhong YANG ; Tingting DU ; Yakun LI
Chinese Journal of Medical Genetics 2023;40(1):53-56
OBJECTIVE:
To explore the clinical characteristics and genetic etiology of a child with Schaaf-Yang syndrome (SYS).
METHODS:
Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing. Sanger sequencing was used for family constellation verification, and bioinformatic analysis was performed for the candidate variant.
RESULTS:
The child, a 1-year-and-9-month-old boy, had clinical manifestations of retarded growth, small penis, and unusual facies. Genetic testing revealed that the child has harbored a novel heterozygous variant of c.3078dupG (p.Leu1027Valfs*28) of the MAGEL2 gene. Sanger sequencing showed that neither parent of the child carried the same variant. The c.3078dupG(p.Leu1027Valfs*28) variant of the MAGEL2 gene has not been included in the databases of ESP, 1000 Genomes and ExAC. According to the Standards and Guidelines for the Interpretation of Sequence Variants of the American College of Medical Genetics and Genomics (ACMG), the variant was judged to be pathogenic.
CONCLUSION
The c.3078dupG (p.Leu1027Valfs*28) variant of the MAGEL2 gene probably underlay the SYS in this child, which has further expanded the spectrum of the MAGEL2 gene variants.
Child
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Humans
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Infant
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Male
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Exome Sequencing
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Genetic Testing
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Heterozygote
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Mutation
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Proteins/genetics*
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Developmental Disabilities/genetics*
9.Vaccination against coronavirus disease 2019 in patients with pulmonary hypertension: A national prospective cohort study
Xiaohan WU ; Jingyi LI ; Jieling MA ; Qianqian LIU ; Lan WANG ; Yongjian ZHU ; Yue CUI ; Anyi WANG ; Cenjin WEN ; Luhong QIU ; Yinjian YANG ; Dan LU ; Xiqi XU ; Xijie ZHU ; Chunyan CHENG ; Duolao WANG ; Zhicheng JING
Chinese Medical Journal 2024;137(6):669-675
Background::Coronavirus disease 2019 (COVID-19) has potential risks for both clinically worsening pulmonary hypertension (PH) and increasing mortality. However, the data regarding the protective role of vaccination in this population are still lacking. This study aimed to assess the safety of approved vaccination for patients with PH.Methods::In this national prospective cohort study, patients diagnosed with PH (World Health Organization [WHO] groups 1 and 4) were enrolled from October 2021 to April 2022. The primary outcome was the composite of PH-related major adverse events. We used an inverse probability weighting (IPW) approach to control for possible confounding factors in the baseline characteristics of patients.Results::In total, 706 patients with PH participated in this study (mean age, 40.3 years; mean duration after diagnosis of PH, 8.2 years). All patients received standardized treatment for PH in accordance with guidelines for the diagnosis and treatment of PH in China. Among them, 278 patients did not receive vaccination, whereas 428 patients completed the vaccination series. None of the participants were infected with COVID-19 during our study period. Overall, 398 patients received inactivated severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccine, whereas 30 received recombinant protein subunit vaccine. After adjusting for baseline covariates using the IPW approach, the odds of any adverse events due to PH in the vaccinated group did not statistically significantly increase (27/428 [6.3%] vs. 24/278 [8.6%], odds ratio = 0.72, P = 0.302). Approximately half of the vaccinated patients reported at least one post-vaccination side effects, most of which were mild, including pain at the injection site (159/428, 37.1%), fever (11/428, 2.6%), and fatigue (26/428, 6.1%). Conclusions::COVID-19 vaccination did not significantly augment the PH-related major adverse events for patients with WHO groups 1 and 4 PH, although there were some tolerable side effects. A large-scale randomized controlled trial is warranted to confirm this finding. The final approval of the COVID-19 vaccination for patients with PH as a public health strategy is promising.
10.Diacylated anthocyanins from purple sweet potato (Ipomoeabatatas L.) attenuate hyperglycemia and hyperuricemia in mice induced by a high-fructose/high-fat diet.
Luhong SHEN ; Yang YANG ; Jiuliang ZHANG ; Lanjie FENG ; Qing ZHOU
Journal of Zhejiang University. Science. B 2023;24(7):587-601
Studies have shown that targeting xanthine oxidase (XO) can be a feasible treatment for fructose-induced hyperuricemia and hyperglycemia. This study aimed to evaluate the dual regulatory effects and molecular mechanisms of diacylated anthocyanins from purple sweet potato (diacylated AF-PSPs) on hyperglycemia and hyperuricemia induced by a high-fructose/high-fat diet. The body weight, organ index, serum biochemical indexes, and liver antioxidant indexes of mice were measured, and the kidneys were observed in pathological sections. The relative expression levels of messenger RNAs (mRNAs) of fructose metabolism pathway enzymes in kidney were detected by fluorescent real-time quantitative polymerase chain (qPCR) reaction technique, and the expression of renal transporter protein and inflammatory factor pathway protein was determined by immunohistochemistry (IHC) technique. Results showed that diacylated AF-PSPs alleviated hyperuricemia in mice, and that this effect might be related to the regulation of liver XO activity, lipid accumulation, and relevant renal transporters. Diacylated AF-PSPs reduced body weight and relieved lipid metabolism disorder, liver lipid accumulation, and liver oxidative stress, thereby enhancing insulin utilization and sensitivity, lowering blood sugar, and reducing hyperglycemia in mice. Also, diacylated AF-PSPs restored mRNA levels related to renal fructose metabolism, and reduced kidney injury and inflammation. This study provided experimental evidence for the mechanisms of dual regulation of blood glucose and uric acid (UA) by diacylated AF-PSPs and their utilization as functional foods in the management of metabolic syndrome.
Mice
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Animals
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Hyperuricemia/drug therapy*
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Diet, High-Fat/adverse effects*
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Anthocyanins/chemistry*
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Ipomoea batatas/chemistry*
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Fructose/adverse effects*
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Hyperglycemia/drug therapy*
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Lipids