Adrenal Hyperplasia, Congenital ; complications ; metabolism ; Body Height ; Growth Disorders ; etiology ; Humans ; Risk Factors ; Steroid 21-Hydroxylase ; metabolism

Objective To investigate the potential clinical factors associated with the prognosis and relapse of adult onset Still's disease(AOSD).Methods The factors possibly influencing the prognosis and relapse of AOSD were analyzed by logistic regression and COX regression in the cohort study.Ninety-six con- secutive inpatients of AOSD diagnosed based on Yamaguchi criteria in the hospital from March 1996 to September 2004 were included in the study.Results Nine cases(9.4%)were lost during the follow-up. Eleven patients(12.6%)were diagnosed as other diseases(5 with other rheumatic diseases,4 with tumor and 2 with infections)in the 87 follow-up cases.In 76 cases,3 patients(3.9%)died and 33 patients(43.4%) got remission over one year after treatment.Splenomegaly(OR=3.14,95%CI=1.01～9.74)and treated with methotrexate(OR=0.22,95%CI=0.07～0.67)were associated with the prognosis from the logistic regression analysis of the 76 cases.The serum ferritin(RR=I.05,95%CI=1.01～1.08)and treated with methotrexate (RR=0.13,95%CI=0.02～0.76)were associated with relapse from the COX regression analysis of the 61 remis- sion cases.Conclusion We need to be very cautious in the follow-up of AOSD patients because some of them may change to other diseases.Methotrexate may be an importent therapy of AOSD not only in improve- ment the prognosis but also in reduction of relapse.

Objective: To explore the impact of tennis on the visual health of primary school students, so as to provide a basis for myopia prevention. Methods: In September 2021, a total of 202 third grade students from Fengtai Affiliated School of Renmin University of China in Beijing were recruited, with 75 students in the intervention group and 127 students in the control group. In addition to attending the same cultural and physical education courses, the intervention group added a tennis course twice a week and tested their vision before the intervention (September 2021), middle (January 2022) and later (June 2022). Data collected at different time points in the two groups were analyzed by using independent sample t-test for comparison between blocks, and single factor repeated measurement ANOVA for analysis of time point factors. Results: After intervention, among male subjects, the average visual acuity of the left and right eyes in the intervention group were higher than that in the control group at the third visual acuity test (left eye:5.00±0.13,4.88±0.29, right eye:5.00±0.12,4.88±0.30, t =2.33, 2.36, P <0.05). Among female subjects, the second visual acuity test (left eye:5.03±0.17, 4.86±0.21, right eye:5.03±0.15, 4.85±0.23) and the third visual acuity test (left eye:4.97±0.13, 4.81±0.23, right eye:4.97±0.14, 4.82±0.24) showed that the average visual acuity of the left and right eyes in the intervention group were higher than that in the control group among females (second: t =3.84, 3.87, third: t =3.70, 3.46, P < 0.01 ). After intervention, the detection rate of visual impairment in both males and females control groups increased at three tests, with statistically significant differences ( χ 2=17.86, 34.77, P <0.01). In the first visual acuity test, there was no statistically significant difference in the detection rate of visual impairment between the control group and the intervention group for both males and females ( χ 2=0.01, 0.10, P >0.05). The third visual impairment detection rate of males in the intervention group was lower than that of the control group (20.00% vs 45.45%), while the second and third visual impairment detection rates of female students in the intervention group were lower than those of the control group (22.86% vs 54.00%; 28.57% vs 70.00%) ( χ 2=7.34, 8.24, 14.18, P < 0.01). Conclusions Tennis can alleviate and prevent the occurrence of myopia in primary school students to a certain extent. Sports such as tennis should be actively promoted to protect the visual health of primary school students.

Objective: To evaluate the long-term prognosis of coronary artery disease (CAD) patients undergoing percutaneous coronary intervention (PCI) by risk stratification with American College of Cardiology (ACC)/American Heart Association (AHA) classification of coronary lesions. Methods: Data used in this study derived from the I-LOVE-IT 2 trial. I-LOVE-IT 2 trial was a prospective, multicenter, randomized, assessor-blinded, noninferiority study. A total of 1 255 patients in I-LOVE-IT 2 trial with only one lesion and underwent biodegradable polymer drug-eluting stent implantation were included and grouped according to ACC/AHA classification of coronary lesions, namely type A/B1 lesion group (n=184), type B2 lesion group (n=457) and type C lesion group (n=614). The primary endpoint was 48-month patient-oriented composite endpoint (PoCE), a composite of all-cause mortality, all myocardial infarction, stroke, and/or any revascularization. The secondary endpoints were target lesion failure (TLF), components of PoCE, major bleeding (bleeding academic research consortium(BARC) type 3-5) and definite/probable stent thrombosis within 48 months. The incidences of endpoint events were compared in the three groups. The multivariable Cox hazard ratio model was used to analyze the independent predictors of PoCE and TLF at 48 months. Results: Incidences of PoCE at 48 months were significantly higher in patients with type C lesion compared with patients with type A/B1 (24.43%(150/614) vs. 14.13%(26/184), P<0.05) or B2 lesion (24.43%(150/614) vs. 15.97%(73/457), P<0.05). The multivariable Cox hazard ratio model showed that the type C lesion were the independent predictors of 48-month PoCE (HR=1.59, 95%CI 1.21-2.08, P<0.001) and TLF (HR=2.31, 95%CI 1.53-3.49, P<0.001). After multivariable adjustment, the HRs of PoCE for patients with type C lesion versus type A/B1 and type B2 were 1.91 (95%CI 1.25-2.92, P=0.003) and 1.64 (95%CI 1.23-2.20, P<0.001), respectively. Meanwhile, the HRs of TLF for patients with type C lesion versus type A/B1 and type B2 were 2.45 (95%CI 1.29-4.64, P=0.006) and 2.55 (95%CI 1.62-4.02, P=0.001), respectively. Conclusions: The ACC/AHA classification of coronary lesions has good discrimination with long-term outcomes for CAD patients undergoing PCI. The type C lesion is associated with a worse prognosis, enough attention should be paid in these patients during routine clinical management.
Cardiovascular Agents ; Coronary Artery Disease ; Drug-Eluting Stents ; Humans ; Percutaneous Coronary Intervention ; Prognosis ; Prospective Studies ; Risk Assessment ; Risk Factors ; Sirolimus ; Treatment Outcome

OBJECTIVETo study the dynamic changes of T lymphocyte subsets in severe acute respiratory syndrome (SARS) patients.

METHODSSequential anti-coagulated blood samples were collected from 62 seropositive SARS patients during the first week, the second week, the first month, the 2nd-3rd month, and 1 year after disease onset. T-lymphocyte subsets including CD4 + T cells, CD8 + T cells, and naive and memory CD4 + T cells were detected by flow cytometry. Samples from 56 healthy blood donors were also detected as healthy controls.

RESULTSA rapid restoration in T-lymphocyte subsets was observed during a short period after infection. During the 2-3 months after disease onset, CD8 + T cell count returned to the normal level. At the same time point, CD4 + T cell and naive CD4 + T cell counts increased to (534 +/- 197)/mm3 and (175 +/- 75)/mm3 respectively. Total lymphocytes, T lymphocyte, CD4 + T and naive CD4 + T cell were still significantly lower than the normal levels even one year after disease onset.

CONCLUSIONThe periphery T lymphocyte subsets in SARS infection shows transient decrease and then rapid recovery.

Adult ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Severe Acute Respiratory Syndrome ; immunology ; T-Lymphocyte Subsets ; immunology ; Time Factors

Objective: To evaluate the long-term prognosis of coronary artery disease (CAD) patients undergoing percutaneous coronary intervention (PCI) by risk stratification with American College of Cardiology (ACC)/American Heart Association (AHA) classification of coronary lesions. Methods: Data used in this study derived from the I-LOVE-IT 2 trial. I-LOVE-IT 2 trial was a prospective, multicenter, randomized, assessor-blinded, noninferiority study. A total of 1 255 patients in I-LOVE-IT 2 trial with only one lesion and underwent biodegradable polymer drug-eluting stent implantation were included and grouped according to ACC/AHA classification of coronary lesions, namely type A/B1 lesion group (n=184), type B2 lesion group (n=457) and type C lesion group (n=614). The primary endpoint was 48-month patient-oriented composite endpoint (PoCE), a composite of all-cause mortality, all myocardial infarction, stroke, and/or any revascularization. The secondary endpoints were target lesion failure (TLF), components of PoCE, major bleeding (bleeding academic research consortium(BARC) type 3-5) and definite/probable stent thrombosis within 48 months. The incidences of endpoint events were compared in the three groups. The multivariable Cox hazard ratio model was used to analyze the independent predictors of PoCE and TLF at 48 months. Results: Incidences of PoCE at 48 months were significantly higher in patients with type C lesion compared with patients with type A/B1 (24.43%(150/614) vs. 14.13%(26/184), P<0.05) or B2 lesion (24.43%(150/614) vs. 15.97%(73/457), P<0.05). The multivariable Cox hazard ratio model showed that the type C lesion were the independent predictors of 48-month PoCE (HR=1.59, 95%CI 1.21-2.08, P<0.001) and TLF (HR=2.31, 95%CI 1.53-3.49, P<0.001). After multivariable adjustment, the HRs of PoCE for patients with type C lesion versus type A/B1 and type B2 were 1.91 (95%CI 1.25-2.92, P=0.003) and 1.64 (95%CI 1.23-2.20, P<0.001), respectively. Meanwhile, the HRs of TLF for patients with type C lesion versus type A/B1 and type B2 were 2.45 (95%CI 1.29-4.64, P=0.006) and 2.55 (95%CI 1.62-4.02, P=0.001), respectively. Conclusions The ACC/AHA classification of coronary lesions has good discrimination with long-term outcomes for CAD patients undergoing PCI. The type C lesion is associated with a worse prognosis, enough attention should be paid in these patients during routine clinical management.

OBJECTIVETo report the results of clinical characteristics, enzyme activity determination and mutation analysis of GLB1 gene in a Chinese patient with mucopolysaccharidosis (MPS) type IVB (Morquio B disease).

METHODA 14-year-old Chinese boy with MPS type IVB was firstly diagnosed by blood leucocytes galactosamine-6-sulfate sulfatase (GALNS) and β-galactosidase (GLB1) determination, who was characterized by short stature, multiplex skeletal abnormalities, difficulty in walking. PCR-sequencing analysis was applied to detect the mutations in GLB1 of the patient.

RESULTThe patient was characterized by dwarfism, pectus carinatum, kyphosis, normal intelligence, and no neurologic damage of spasms, linguistic capacity and so on. The patient had normal GALNS enzyme activity and very low GLB1 enzyme activity [5.03 nmol/(h·mg) vs. normal value 118 - 413 nmol/(h·mg) ] in leukocytes. A compound heterozygous missense mutations c.442C > T(p.R148C)/c.1454A > G(p.Y485C) in GLB1 gene were detected in this patient. The mutation p.Y485C is a novel variant. With the method of gene analysis of new variant, the mutation p.Y485C was considered to be a pathogenic mutation.

CONCLUSIONThe MPS IVB patient showed severe multiple skeletal deformities, normal intelligence, no neurologic damage and very low GLB1 enzyme activity, who carries compound heterozygous mutations p.R148C/p.Y485C. The mutation p.Y485C in GLB1 gene may be a novel pathologic mutation of MPS type IVB.

Adolescent ; Amino Acid Sequence ; Asian Continental Ancestry Group ; genetics ; Chondroitinsulfatases ; genetics ; metabolism ; DNA Mutational Analysis ; Humans ; Joints ; pathology ; Male ; Molecular Sequence Data ; Mucopolysaccharidosis IV ; enzymology ; genetics ; pathology ; Mutation, Missense ; Pedigree ; Polymerase Chain Reaction ; Radiography ; Spine ; diagnostic imaging ; pathology ; beta-Galactosidase ; genetics ; metabolism

Activin Receptors, Type I ; analysis ; Animals ; Arcuate Nucleus of Hypothalamus ; chemistry ; drug effects ; Drugs, Chinese Herbal ; pharmacology ; Immunohistochemistry ; Liver Regeneration ; Protein-Serine-Threonine Kinases ; RNA, Messenger ; analysis ; Rats ; Receptors, Transforming Growth Factor beta ; analysis ; Sodium Glutamate ; Transforming Growth Factor alpha ; analysis ; genetics ; Transforming Growth Factor beta ; analysis ; genetics

OBJECTIVETo assess whether the existing three types of pharmacogenetics-based Warfarin dosing algorithms appropriately predict the actual maintenance dose in Han Chinese mechanical heart valve replacement patients (n = 130).

METHODSThe patients' CYP2C9 and VKORC1 genetic polymorphisms were detected by PCR-RFLP. The genotype of CYP2C9, VKORC1 and other information were used to calculate predicted doses. Accuracy of the models was assessed using the absolute value of the difference between predicted dose and actual dose, calculated on both an absolute and percentage basis. Actual weekly dose was also regressed on predicted weekly dose, from which we obtained R(2) values. Clinical accuracy of the predictions was assessed by computing the proportion in which the predicted dose was 20% or more below the actual dose (under dosed), within 20% of the actual dose (ideally dosed), or 20% or greater above the actual dose (over dosed).

RESULTSThe average absolute error is the smallest for the predictions made by the Wen model (3.74 mg/wk), followed by the Ohno model (4.07 mg/wk) and IWPC model (5.05 mg/wk). R(2) was 40.2% in the Wen model, 38.2% in the Ohno model and 26.7% in the IWPC model. When comparing the percentage of patients for whom the predicted doses were ideal, the Wen model works the best (50.0%) in low-dose group (≤ 21 mg/wk), but the Ohno model works the best (85.29%) in middle-dose group (21 - 49 mg/wk), followed by the Wen model.

CONCLUSIONThe best accuracy is achieved by the Wen model and the best clinical accuracy is obtained by the Ohno model for predicting the actual maintenance dose in Han Chinese mechanical heart valve replacement patients.

Adolescent ; Adult ; Aged ; Anticoagulants ; administration & dosage ; Aryl Hydrocarbon Hydroxylases ; genetics ; Asian Continental Ancestry Group ; genetics ; Cytochrome P-450 CYP2C9 ; Drug Design ; Female ; Genotype ; Humans ; Male ; Middle Aged ; NAD(P)H Dehydrogenase (Quinone) ; genetics ; Pharmacogenetics ; Polymorphism, Genetic ; Warfarin ; administration & dosage ; Young Adult

Objective To analyze the influence of validating the parental origin to the interpretation of clinical pathogenicity of total 54 copy number variations(CNV)with different clinical significance in 46 patients undergo chromosomal microarray analysis(CMA).Methods A retrospective study.This study enrolled 46 patients conducted in Department of Pediatric Endocrinology and Genetics of Shanghai Xinhua Hospital during the period of August 2014 to December 2015,involving 54 different CNVs detected by CMA.The parental origin of CNVs was examined by CMA or quantitative real-time polymerase chain reaction.Results Totally 54 different CNVs were found in 46 patients by CMA.Seventeen out of the 54 CNVs were pathogenic variations.After validating the parental origin,14 CNVs were proved de novo mutation,while 3 CNVs have maternal origin including 1q21.1 deletion syndrome,Xq27.3q28 and Xq22.1q22.3 duplications which inherited from maternal X chromosome.CNVs of 1q21.1 deletion syndrome often inherited from parents,and no phenotype appears on mother which may be due to the deactivation mechanism of duplications on mother′s X chromosome.Therefore,these 17 pathogenic variations were still considered to be clinical pathogenic significance after validating the parental origin.Ten out of 54 CNVs were variants of uncertain significance-likely pathogenic.After parental original validation,3 CNVs were proved de novo mutation considering likely pathogenic significance,while 7 CNVs have parental origin still judged to be unknown clinical pathogenicity.Twenty-seven out of 54 CNVs were variants of uncertain significance.After validating the parental origin,only 1 CNV was proved de novo mutation considering likely pathogenic significance,while all the others had parental origin considered to be variations likely benign.Conclusion CNVs reported as likely pathogenic should be validated the parental origin in order to further study their clinical pathogenicity,while variants of uncertain significance can preliminary clear its nature by validating parental origin.