OBJECTIVE: To explore the genetic characteristics of a child with Focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS). METHODS: A child with FSGSNEDS who had visited Shengli Oilfield Central Hospital on September 15, 2019 was selected as the study subject. Clinical data of the child was collected, and trio-whole exome sequencing (trio-WES), Sanger sequencing, chromosomal karyotyping analysis, and copy number variation sequencing (CNV-seq) were used to analyze the child and his parents. RESULTS: The child, a 3-year-old boy, had manifested developmental delay, nephrotic syndrome, and epilepsy. Trio-WES and Sanger sequencing showed that he has carried a heterozygous c.1375C＞T (p.Q459*) variant of the TRIM8 gene, for which both his parents were of the wild type. Based on guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic. No abnormality was found in the chromosomal karyotyping and CNV-seq results of the child and his parents. CONCLUSION The child was diagnosed with FSGSNEDS, for which the c.1375C＞T variant of the TRIM8 gene may be accountable.
Male ; Humans ; Child ; Child, Preschool ; DNA Copy Number Variations ; Glomerulosclerosis, Focal Segmental/genetics* ; Genomics ; Heterozygote ; Karyotyping ; Carrier Proteins ; Nerve Tissue Proteins

Objective:To evaluate the efficacy of long-pulsed 1 064-nm Nd:YAG laser combined with a topical emulsion containing Camellia reticulata and Radix Notoginseng in the treatment of melasma. Methods:A total of 80 patients with melasma were enrolled from Department of Dermatology, People′s Hospital of Ningxia Hui Autonomous Region from June 2019 to June 2020, and randomly and equally divided into control group and observation group by using a random number table: 40 patients in the control group were treated with long-pulsed 1 064-nm Nd:YAG laser once every 2 weeks for 6 sessions as a course of treatment; another 40 in the observation group were treated with the same laser therapy as the control group and a topical emulsion containing Camellia reticulata and Radix Notoginseng twice a day for 3 months as a course of treatment. Melasma area and severity index (MASI), clinical efficacy, patient satisfaction rate and safety were compared between the 2 groups before and/or after treatment. Results:After 4- and 8-week treatment, there was no significant difference in the MASI score between the observation group (14.57 ± 3.22 points, 10.00 ± 2.94 points, respectively) and control group (14.74 ± 3.11 points, 11.31 ± 3.00 points, respectively; both P>0.05). After 12-week treatment, the MASI score was significantly lower in the observation group (4.80 ± 2.78 points) than in the control group (7.07 ± 3.22 points, t = -3.38, P<0.01). After 3-month treatment, the response rate was significantly higher in the observation group (36 cases, 90%) than in the control group (31 cases, 77.5%; χ2 = 4.58, P < 0.001) ; however, there was no significant difference in the patient satisfaction rate between the observation group (87.5%) and control group (72.5%, χ2 = 7.26, P = 0.06). In addition, no significant difference in the occurrence of adverse reactions was observed between the observation group (5 cases, 12.5%) and control group (7 cases, 17.5%; P > 0.05) . Conclusion:Compared with the long-pulsed 1 064-nm Nd:YAG laser alone, the topical emulsion containing Camellia reticulata and Radix Notoginseng in combination with the long-pulsed 1 064-nm Nd:YAG laser is more effective for the treatment of melasma, with higher patient satisfaction and less adverse reactions.

Objective: To investigate the tendency and safety of percutaneous umbilical cord blood sampling (PUBS) in prenatal screening and diagnosis, and the possibilities of avoiding unnecessary PUBS. Methods: This was a retrospective study of pregnant women who underwent PUBS for prenatal diagnosis in Peking University First Hospital from January 2015 to December 2017. Clinical indications, timing of PUBS, further investigations (chromosome karyotype, molecular genetics and pathogen testing), results, and pregnancy outcomes were collected and analyzed. One-way analysis of variance (ANOVA), Chi-square test for linear trend, Fisher's exact probability test/Cochran-Armitage analysis and Cruskal-Wallis rank-sum test were used for statistical analysis. Results: (1) A total of 412 singleton pregnancies underwent PUBS at 20-38 gestational weeks during the study period, and 379 (92.2%) of them received PUBS before 34 gestational weeks. The positive test results accounted for 10.4% (43/412). There were six (1.5%) miscarriages after PUBS. In vitro cell culture failure occurred in two cases, one in 2015 and the other in 2016. (2) Among the 412 cases, 304 (73.8%) had only one indication. Fourteen cases could be identified as high risk in the first trimester, such as advanced maternal age (AMA, >35 years), pregnant history with chromosomal abnormal fetus and one of the couples carrying abnormal genes. There were four, zero and one case receiving PUBS only for AMA in 2015, 2016 and 2017, respectively. Indications, including high risk suggested by serum screening and fetal abnormality found by ultrasound were identified in 290 cases (70.4%) in the second or third trimester. Other than AMA, there were no statistically significant differences in single indicators. The proportion PUBS with double indicators increased from 2015 to 2017 but without significant difference. AMA and positive serum screening as indicators of aneuploidy screening accounted for 7.6% (8/105) in double-indicator group and 1.9% (8/412) in all. (3) There were 363 PUBS (88.1%) performed for ultrasound abnormalities. Among them, 76.9% (280/363) only had abnormal ultrasound findings, and the percentage was decreased year by year. The other 83 cases (80 with double indicators and three with triple indicators) also presented with other indicators, including AMA, adverse pregnancy history and positive serum screening. The proportion of PUBS performed with the presence of multiple indicators tended to increase recently, but no statistically significant difference was found. All the 18 cases with abnormality diagnosed by molecular genetic testing had abnormal ultrasound findings. Conclusions Although PUBS's complications are rare, it carries some risks. The constitution of single indication has been declined every year. With the improvement of prenatal screening system and application of molecular karyotyping, the necessity of invasive prenatal diagnosis with PUBS is greatly reduced. An improvement in reasonable and standardized application of PUBS needs to be achieved.

Objective To investigate the correlation between red blood cell distribution width(RDW) and in-stent restenosis(ISR)in patients with coronary heart disease after PCI.Methods A total of nine hundred and seventy-eight patients with coronary heart disease treated in Beijing Anzhen Hospital,Capital Medical University with DES stent implantation from March 2015 to March 2016 were enrolled in the study.Among them,493 patients(50.41%)underwent coronary angiography in the hospital at 6-12 months after the operation.According to the results of the angiography,the patients were divided into two groups: the ISR group and the non-ISR group.The basic data of the patients,the laboratory indexes and the coronary interventional procedures record were collected to analyze the factors that could lead to in-stent restenosis.Results 51 cases(10.34%)in the ISR group and 442 cases(89.66%)in the non-ISR group.The baseline characteristics of the two groups were similar,and there was no significant difference in gender,age, body mass index,combined with hypertension,family history of coronary heart disease,long-term administration of statin and follow-up interval(P>0.05).The proportion of patients with diabetes was significantly higher than that of the non-ISR group(37.3% vs.22.6%,P=0.021);the smoking rate was significantly higher in the ISR group(52.9% vs.35.7%,P=0.016).In terms of laboratory examination,there were no significant differences between the two groups in blood lipid levels and WBC,RBC,Hb and PLT counts between the two groups(P>0.05).The levels of serum RDW(13.4(13.00,13.80)vs.12.7(12.40,13.10),P<0.01)and hs-CRP (3.15(2.32,4.63)vs.1.33(0.63,3.16),P<0.01)were significantly increased in the patients with ISR.The stent length was longer in the ISR group((21.87 ± 5.20)mm vs.(19.14 ± 4.87)mm,P<0.01),the stent diameter was smaller((2.87±0.38)mm vs.(3.09±0.36)mm,P<0.01),the number of cases with serial stents in ISR group was higher than that in non-ISR group(45.1 % Vs 30.8%,P=0.038).Multivariate logistic regression analysis showed that RDW(OR=2.396,95%CI 1.655-3.471;P<0.01),hs-CRP(OR=1.052, 95%CI:1.001-1.105;P=0.044),DM(OR=2.029,95%CI:1.004-4.100;P=0.049),smoking(OR=2.252,95%CI:1.060-4.783;P=0.035),stent length(OR=1.149,95%CI:1.072-1.230;P<0.01),stent diameter(OR=0.210,95%CI:0.079-0.558;P=0.002)and serial stents(OR=2.306,95%CI:1.162-4.575;P=0.017)were independent risk factors for in-stent restenosis.Conclusion Red blood cell distribution width is an independent predictor of in-stent restenosis after PCI in patients with coronary heart disease.Chronic inflammation and oxidative stress may be the most important pathogenesis of ISR.

Objective:To establish and validate a method for the determination of particle size and size distribution of gefitinib. Methods:A Malvern Mastersizer 3000 laser size analyzer and a Hydro LV wet autosampler were used,a light scattering method for the determination of particle size and size distribution was adopted to analyze the particle size of gefitinib,and then the methodological study was carried out. The pump speed was 2 000 r·min -1 ,the obscuration was 8% -20% ,the measurement time of background and sample was 10 s,the sample RI was 1. 500,and the sample absorbance was 0. 00. Results:The D10 of 3 batches of gefitinib was less than 7 μm,the D50 was less than 15 μm and the D90 was less than 25 μm,which all met the preparation requirements of final products. Conclusion:The method is accurate,simple and repeatable,and suitable for the particle size analysis of gefitinib.

BACKGROUNDA number of studies have demonstrated the rates of overall and aneurysm-related mortality and morbidity in Western populations. The cardiovascular risk factors influencing postoperative outcome have been also reported. Until recently, little has been known about the prognosis in this patient cohort in the Chinese population. We evaluated the independent predictors of mortality and morbidity in abdominal aortic aneurysm (AAA) patients undergoing elective surgical treatment and emphasized whether the coronary artery revascularization could have any effect on the overall mortality and morbidity in patients following the current guideline recommendation.

METHODSA total of 386 patients (174 women) undergoing surgery in Beijing Anzhen Hospital from January 2008 to June 2010 were enrolled (mean age (70.6±10.5) years). Kaplan-Meier curves were constructed to compare the mortality and morbidity of AAA patients with coronary artery revascularization and those without. A Cox proportional hazards model was constructed to identify clinical factors associated with two-year outcomes. The primary outcomes were death from any cause, the pre-specified morbidity was re-hospitalization for pulmonary conditions, congestive heart failure, angina, ischemic/hemorrhagic stroke.

RESULTSDuring the two-year follow-up, 34 patients died and 65 experienced re-hospitalization with pulmonary conditions, congestive heart failure, angina, or ischemic/hemorrhagic stroke. Kaplan-Meier survival analysis showed that the AAA patients with cardiac revascularization had no higher incidence of overall mortality and major morbidity than those without (log-rank test P = 0.35 and P = 0.40, respectively). Cox proportional hazards regression analysis showed that level of lowdensity lipoprotein (HR, 4.06; 95% CI: 1.19-18.7, P = 0.027) and AAA size (HR, 2.18; 95% CI: 1.28-11.65, P = 0.036) were independently associated with the incidence of overall mortality. Long-term use of angiotensin converting enzyme inhibitors, statins, AAA size and systolic blood pressure were independent predictors of the secondary pre-specified outcomes.

CONCLUSIONSCoronary artery revascularization following the guideline recommendations did not increase the mortality and morbidity of Chinese with AAA who were undergoing repair. Absence of angiotensin converting enzyme inhibitors and statins, AAA size, and systolic blood pressure were powerful predictors of the clinical events.

Adult ; Aged ; Aged, 80 and over ; Aortic Aneurysm, Abdominal ; surgery ; Coronary Artery Bypass ; adverse effects ; Coronary Artery Disease ; surgery ; Female ; Humans ; Male ; Middle Aged ; Young Adult

Objective To characterize the baseline status of Chinese diabetic patients based on data derived from Chinese cohort from SOLVETM study.Methods Patients with type 2 diabetes initiating basal insulin detemir at the decision of the physician were eligible for the study.Data on demographics,medical history,glycemic profile and treatment regimen at baseline were collected by physicians.Results A total of 3272 patients [female 42％,male 58％,mean age (56.2 ± 10.8) years] were included in the study.Their BMI was (25.3 ± 3.3) kg/m2.The duration of diabetes was 4.0 (0.1-27.0) years,and the duration of treatment with oral antidiabetic drugs (OADs) was 3.0(0.0-20.2) years.The proportions of subjects with diabetic macro-and micro-vascular complications were 15.8％ (515 cases) and 27.1％ (866 cases),respectively.The hemoglobin Al c (HbAl c) at baseline was (8.33 ± 1.70) ％,and the fasting blood glucose (FPG) was (9.5 ± 2.6) mmol/L.Conclusions A large proportion of patients with type 2 diabetes remain in poor glycemic control,and the prevalence of diabetic complications is high,which requires optimal therapeutic strategy for the patients with suboptimal glycemic control.

ObjectiveTo investigate the independent risk factors of 30-day mortality of nontraumatic acute chest pain in emergency department so as to get non - traumatic acute chest pain risk score,MethodsThe clinical data of 532 patients with non - traumatic acute chest pain were reviewed.The independent risk factors of 30 - day mortality were identified after analysis of medical history,symptom and sign,laboratory findings by uuivariate analysis and logistic regression.Non- traumatic acute chest pain risk score was made as per the odds ratios of these risk factors. ResultsThe average age of the patients was (55.7 + 12.7 ) years,and 45 patients ( 8.4％ ) died after 30 days.In patients with non - traumatic acute chest pain,history of hypertension (OR:4.28; 95％ CI:1.59-11.55 ),prolonged chest pain (OR:1.1; 95％ CI:1.05-1.15),dyspnea (OR:6.61; 95％CI:2.40-18.10) and tachycardia (OR:1.02; 95％CI:1.00-1.04),high leucocyte count (OR:1.18; 95％CI:1.06-1.31) and D - Dimer ( OR:1.002; 95％ CI:1.001-1.002 ) predicted 30 - day mortality independently,whereas chest pain relieved by medicine (OR:0. 15; 95％ CI:0.04-0.65),high blood oxygen saturation (SaO2) (OR:0.89; 95％CI:0.83-0.98) and normal hematocrit (OR:0.92; 95％CI:0.86-0.99) were good markers to predict optimistic prognosis.Non - traumatic acute chest pain risk score was higher in 30 - day dead group than those in survival group significantly ( P ＜ 0.01 ),and mortality was significantly different between groups with various risk stratification (P ＜ 0. 01 ).Conclusions Clinical physician can predict 30 - day mortality and evaluate prognosis in patients with acute chest pain by using non - traumatic acute chest pain risk score quickly and effectively.

Objective To compare the in-hospital and follow-up clinical results of percutaneous coronary intervention(PCI)and coronary artery bypass grafting(CABG)in patients of left ventricular dysfunction with coronary artery disease.Methods 147 patients with left ventricular dysfunction were divided into PCI group(n=60)and CABG group(n=87).Clinical,angiographic and revascularization data were collected for analysis.Patients were by SPSS 13.0 software.P value of less than 0.05 was considered statistically significant.Results In-hospital MACCE rates and mortality ofthe two groups were comparable[(6.7%vs 9.2%,P＞0.05)and(1.7%vs 8.0%,P＞0.05)].Multivariate Logistic regression analysis indicated that in-hospital MACCE risk of the two groups were similar(OR≥3.03,95%CI 0.27～34.48,P＞0.05).22-month follow-up showed no signficance in MACCE rates (16.0%vs 13.8%,P＞0.05)and in repeated revaseularization rates(8.O%vs 1.7%,P＞0.05)between the two groups.Multivariate Cox regression analysis indicated that follow-up MACCE risk of the two groups were comparable (HR≥1.35,95%C/0.44～4.13,P＞0.05).Conclusion In coronary artery disease patients with left ventricular dysfunction,PCI and CABG have similar in-hospital and long-tem MACCE rates.Long-terra effect of PCI would be further increased with the wide use of drug-eluting stents.