1.Advance in research on causative genes of xeroderma pigmentosum and related diseases.
Zhonghui SUN ; Yunyi GUO ; Jia ZHANG ; Yin ZHUANG ; Ming LI ; Zhirong YAO
Chinese Journal of Medical Genetics 2016;33(5):708-712
Ultraviolet light(UV)-sensitive disorders refer to a group of diseases due to damages to the nucleotide excision repair mechanism which cannot effectively repair DNA damage caused by ultraviolet radiation. The inheritance pattern of such diseases, mainly including xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy, is autosomal recessive and known to involve 13 genes. As proteins encoded by such genes are involved in DNA repair and transcription pathways. There is overlap between the symptoms of such diseases, and their genotype - phenotype correlations are quite complex. To facilitate genetic and prenatal diagnosis for such diseases, a summary of the research progress is provided, which mainly focused on mutation research and genotype - phenotype correlation studies. We also propose a strategy for their genetic diagnosis based on recent findings of our group.
Biomedical Research
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methods
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trends
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Cockayne Syndrome
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genetics
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DNA Damage
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DNA Repair
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genetics
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Genetic Predisposition to Disease
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genetics
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Humans
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Skin
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metabolism
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pathology
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radiation effects
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Trichothiodystrophy Syndromes
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genetics
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Ultraviolet Rays
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Xeroderma Pigmentosum
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genetics
2.Preliminary clinical experience of ipsilateral simultaneous pancreas and kidney transplantation
Lei ZHANG ; Zheng CHEN ; Junjie MA ; Jiali FANG ; Guanghui LI ; Lu XU ; Xingqiang LAI ; Wei YIN ; Yunyi XIONG ; Luhao LIU ; Li LI ; Rongxin CHEN ; Peng ZHANG ; Hailin XU ; Tao ZHANG ; Jiao WAN ; Guanghui PAN
Chinese Journal of Organ Transplantation 2019;40(5):266-271
Objective To preliminarily explore the clinical efficacy of ipsilateral simultaneous pancreas and kidney transplantation (SPK) .Methods Ipsilateral SPK was performed in 40 patients from September 2016 to August 2018 .During a follow-up period of 6 to 29 months ,we summarized the efficacy and complications of the technique .Results Up to now ,38 patients achieved an exceelent clinical efficacy with no major surgical complications .However ,two patients died of severe pneumonia .The postoperative serum levels of creatinine at 3 ,6 ,12 ,24 months were 107 ,102 ,107 ,110 umol/L ;creatinine clearance rate 64 ,67 ,64 ,63 ml/min;fasting glucose 4 .6 ,5 .1 ,4 .6 ,5 .2 mmol/L ;glycated hemoglobin 4 .8% , 5 .4% ,4 .9% ,5 .2% respectively .And 1/2-year pancrea and kidney graft survival rates both were 92% . Complications included kidney graft rejection (n= 11) ,pancreas graft rejection (n= 12) ,simultaneous renal & pancreas graft rejection (n=6) ,renal graft DGF (n=1) ,pulmonary infection (n=14) ,urinary tract infections (n=18) ,gastrointestinal bleeding (n=10) diarrhea (n=6) ,splenic venous thrombosis (n=2) ,incomplete ureteric obstruction of renal allograft (n=3) ,urine leakage (n=1) and pancreas allograft dysfunction (n= 2) .There were no severe surgical complications .After aggressive interventions ,all postoperative complications were cured and none required excision of kidney or pancreas .Conclusions Ipsilateral SPK has definite therapeutic efficacy and it is worth wider popularization .
3.Clinical application of anticoagulation therapy after simultaneous pancreas and kidney transplantation: a single-center observational cohort study
Luhao LIU ; Jiali FANG ; Guanghui LI ; Lei ZHANG ; Lu XU ; Yunyi XIONG ; Wei YIN ; Jialin WU ; Rongxin CHEN ; Yuhe GUO ; Junjie MA ; Zheng CHEN
Chinese Journal of Organ Transplantation 2021;42(11):663-668
Objective:To explore the clinical efficacy of aspirin plus low molecule heparin for pancreatic thrombosis during simultaneous pancreas and kidney transplantation (SPK).Methods:A total of 129 patients aged 18 years or higher underwent SPK between September 2016 and March 2020.They were divided retrospectively into two groups of aspirin ( n=60) and heparin ( n=69) according to different anticoagulant regimens.The aspirin group received only aspirin 100 mg/d at Day 1 post-operation.The heparin group received subcutaneous injection of enoxaparin 2 000 AxaIU daily for 7 days and followed by aspirin and clopidogrel.Outcomes and complication rates were compared between two groups. Results:All operations were successful without any mortality.In aspirin group, there were 5 cases of pancreatic thrombosis and one patient underwent pancreatectomy.There was no pancreatic thrombosis in heparin group ( P=0.014). There were 8 cases of intestinal anastomotic bleeding in aspirin group and 19 cases in heparin group.Statistically significant inter-group difference existed ( P=0.048). However, no significant inter-group difference existed in delayed recovery or rejection. Conclusions:Heparin anticoagulation can significantly lower the incidence of pancreatic thrombosis after SPK.Despite a higher incidence of intestinal anastomotic bleeding, no serious complication occurs after conservative meaures.
4.Influence of dietary composition of residents in endemic fluorosis area on the prevalence of skeletal fluorosis
Liu YANG ; Qiao LI ; Yunyi YIN ; Qun LOU ; Fanshuo YIN ; Meichen ZHANG ; Liaowei WU ; Ning GUO ; Wei HUANG ; Yanhui GAO ; Yanmei YANG
Chinese Journal of Endemiology 2023;42(2):87-91
Objective:To analyze the relationship between dietary composition of residents in endemic fluorosis areas and skeletal fluorosis.Methods:A case-control study was used to analyze the difference of dietary composition between patients with skeletal fluorosis (case group) and residents without skeletal fluorosis (control group). In August 2019, taking the drinking water-borne endemic fluorosis area in Wenshui County, Lvliang City, Shanxi Province as the survey site, a cluster sampling method was adopted to select local residents aged over 18 years old, and a questionnaire survey was conducted by face-to-face interview. The survey contents included gender, age and consumption frequency of various foods. Binary logistic regression was used to analyze the relationship between food consumption frequency and skeletal fluorosis. The diagnosis of skeletal fluorosis was made by using portable digital radiography (DR) to take X-ray films of forearm and lower leg, combining with clinical signs, and according to the Diagnostic Standard for Endemic Skeletal Fluorosis (WS/T 192-2008) to determine.Results:A total of 1 061 subjects were included in this study, including 376 in the case group and 685 in the control group. The age composition of patients in the case group (≤60, > 60 years old: 162, 214 cases) was significantly different from that in the control group (≤60, > 60 years old: 423, 261 cases, χ 2 = 34.52, P < 0.001). There was no statistically significant difference in gender ratio (χ 2 = 1.37, P = 0.251). The proportion of patients in the case group who ate meat and eggs > 1 time/week was lower than that in the control group (χ 2 = 8.06, 5.46, P < 0.05), the proportion of patients who ate milk > 1 time/week was higher than that in the control group (χ 2 = 4.01, P = 0.046), and the proportion of patients who ate seafood ≥1 time/week was lower than that in the control group (χ 2 = 4.16, P = 0.046). The results of binary logistic regression analysis showed that after adjusting for age, sex, and urinary fluoride, the frequency of eating meat, eggs or milk > 1 time/week and the frequency of eating seafood ≥1 time/week were not related to the risk of skeletal fluorosis ( P > 0.05); however, in the group ≤60 years old, the frequency of eating eggs > 1 time/week was associated with the risk of skeletal fluorosis [odds ratio ( OR) = 0.59, 95% confidence interval ( CI): 0.39, 0.88]. Conclusions:The consumption frequency of meat, milk, eggs and seafood is significantly different between the skeletal fluorosis patients and the control people. In the population ≤60 years old, consumption frequency of eggs > 1 time/week may reduce the risk of skeletal fluorosis.