本文在“国际残疾分类”的基础上，围绕康复诊断名称的标准化，进行了初步探讨，力求使之适合于临床康复的应用及康复病案管理。

Objective To investigate insulin receptor (INSR) genotype exon 17 frequencies in women with polycystic ovary syndrome(PCOS) and to elucidate its role in the pathogenesis of PCOS. Methods The study involved 33 women with PCOS and 28 healthy control women who were genotyped for polymorphism of INSR gene exon 17 by single strand conformation polymorphism (SSCP) analysis. Body mass index (BMI), insulin sensitive index (ISI), the expression of INSR beta subunit, and serum concentration of luteinizing hormone(LH), total testosterone between the genotypes were compared. Results (1) The T -to- C mutation was observed in the INSR gene exon 17 (1008 bp). The frequency of the C/C genotype was significantly higher in patients (39%) than in the controls (11%) (P

ObjectiveTo observe the effects ofYushen Zhuyun Prescription on ovarian morphology and sex hormone of rats with decreased ovarian reservation (DOR) induced by tripterygium glycosides; To explore its mechanism of action.Methods Tripterygium glycosides solution was used to establish DOR model rats by gastric gavage. 48 female SD rats were randomly divided into blank group, model group, positive medicine group andYushen Zhuyun Prescription low-, medium- and high-dose groups.Yushen ZhuyunPrescription groups were given the low, medium, high dosagesYushen Zhuyun Prescription liquid; positive medicine group were given estradiol valerate liquid; model group and blank control group were given normal saline with the same amount, by gavage 2 times per day for 14 consecutive days. The general condition of the rats was observed; ovarian was weighed and the viscera index was calculated; ovarian morphology was observed by HE staining; the levels of serum estradiol (E2), follicle stimulating hormone (FSH) and testosterone (T) were detected by radioimmunoassay; the levels of inhibin B (INHB) and anti Mullerian hormone (AMH) were detected by ELISA.Results Compared with the blank group, ovarian tissue atrophied; the number of follicles was reduced; ovarian index and the level of E2, INHB and AMH decreased; the levels of FSH and LH increased in the model group (P<0.01). Compared with the model group, ovarian tissue morphology improved significantly; the number of follicle and corpus luteum increased; follicular atresia was reduced; ovarian index and the levels of E2, INHB, and AMH increased; the levels of FSH and LH decreased in Yushen Zhuyun Prescription high-dose group (P<0.01). INHB and AMH had significant correlation (P<0.01). ConclusionYushen Zhuyun Prescription can regulate hormone levels, promote the growth and secretion of follicle, and inhibit follicular atresia, thereby improve ovarian reserve function.

Objectives To observe the genetic characteristics of chromosomes and the rates of implantation and pregnancy in couples of translocation carriers who undergo preimplantation genetic diagnosis (PGD) and to evaluate the significance of PGD in the treatment of translocation carriers. Methods Fluorescence in situ hybridization (FISH) was performed to analyze the embryos of 12 carriers of reciprocal translocation and 22 carriers of Robertsonian translocation. The results of diagnosis and the implantation and pregnancy rates were analyzed. Results A total of 253 embryos from 36 couples were retrieved and FISH was applied for the examination. The characteristics of chromosomes were diagnosed in 225 embryos and the rate of successful PGD was 88.9%. Fifty-eight embryos were found to have normal chromosome or balanced translocation and were transferred into the uterus. The rate of implantation was 36% (5/14) and 14% (6/44) and the rate of pregnancy was 4/9 and 26% (5/19) for carriers of Robertsonian translocation and reciprocal translocation, respectively. Conclusions The FISH-based PGD is effective in the diagnosis of Robertsonian translocation and reciprocal translocation of embryos. It provides the possibility of a high rate of implantation and pregnancy, and avoids recurrent abortion and unwilling termination of pregnancy.

ObjectiveTo detect the serum level of follistatin-like protein 1 (FSTL1) in patients with systemic lupus erythematosus (SLE) and its expression in renal biopsy tissues in lupus nephritis (LN) patients as well as its clinical significance were analyzed.MethodsThe serum concentration of FSTL1 in 54 SLE patients and 27 healthy controls was measured with enzyme-linked immunosorbent assay (ELISA).The distribution of FSTL1 in renal biopsy tissues was stained by immune-histochemical method.Mann-Whitney U test,t test,X2test and Pearson test were selected to compare the changes and data analysis.ResultsThe serum FSTLI level was significantly higher in SLE patients(26±21) μg/L than those of healthy controls ( 12± 14) μg/L (P＜0.01).The level of serum FSTL1 was significantly higher in SLE patients with hypertension than in patients without hypertension.The serum FSTL1 level had statistically significant changes between SLE patients with disease duration ≥ 5 years and ＜5 years.The level of serum FSTL1 correlated positively with SLEDAI score (r=0.319,P=0.022),age (r=0.700,P＜0.01),disease duration (r=0.513,P＜0.01),complement C4 level (r=0.443,P=0.004),and total serum cholesterol level (r=0.460,P=0.001 ).FSTL1 correlated inversely with platelet count (r=-0.422,P =0.001 ),anti-dsDNA antibody levels (r=-0.276,P=0.046).FSTL1 expression was evident in the cytoplasm of epithelial cells of kidney tubules.ConclusionThe level of serum FSTL1 is significantly increased in SLE patients.FSTL1 concentration correlats positively with disease activity.These data indicate that FSTL1 may play a role in the pathogenesis of SLE.

Objective To evaluate the diagnostic value of virtual touch tissue quantification (VTQ) in the diagnosis of renal allograft fibrosis.Methods The renal allografts of 82 patients with biopsies or nephrectomy were assessed by virtual touch quantification.The renal allograft fibrosis was categorized according to the 2005 updated Banff criteria for a G0～G3 grade.All the results were compared among four groups.Results The mean SWV values in G0～G3 were (2.39 ± 0.31)m/s,(2.45 ± 0.34)m/s,(2.58 ± 0.18) m/s,(3.11 ± 0.40)m/s,respectively.There were no significant differences in the mean SWV value between G0 and G1 group,or between G1 and G2 group(P ＞0.05).There were significant differences in the mean SWV value between G0～G2 and G3 group,or between G0 and G2 group(P ＜0.05).Stiffness of renal allograft was significantly correlated to the mean SWV value (Spearman r =0.671,P ＜0.001).According to the area under the ROC curve,the sensitivity and specificity of SWV (area under ROC curve =0.847,cut-off=2.64 m/s) for grade ≥G2 was 78.9％ and 79.5％ respectively.Conclusions Stiffness measured by VTQ reflects the interstitial fibrosis in renal allograft.VTQ technique might be a new tool to identify patients with chronic allograft injury.

Purpose: We compared visual field progression among patients with primary open-angle glaucoma (POAG), normal tension glaucoma (NTG), and primary angle-closure glaucoma (PACG). Methods: A total of 115 POAG, 123 NTG, and 92 PACG eyes were retrospectively analyzed. Global VF progression was evaluated by calculating the changes of mean deviations. To examine local VF deterioration, scotoma enlargement and deepening were analyzed in the superior, and inferior arcuate, and the central, zones. Results: The mean global rate of change in POAG eyes was -0.52 ± 0.74 dB/year, and -0.35 ± 0.41, and -0.38 ± 0.45 dB/year in NTG and PACG eyes; POAG eyes showed significantly more rapid progression than NTG and PACG eyes (p < 0.01). The superior arcuate zone of POAG eyes, the central zone of NTG eyes, and the inferior arcuate zone of PACG eyes exhibited more scotoma enlargement and scotoma deepening than did other zones. Conclusions The superior arcuate zone of POAG eyes, the central zone of NTG eyes, and the inferior arcuate zone of PACG eyes showed greater VF progression.

Purpose: We report a patient diagnosed with corneal keloid who had laser-assisted in-situ keratomileusis (LASIK).Case summary: A 41-year-old female presented with LASIK 15 years ago. Seven years later, she presented with a growing white corneal mass located in the lower periphery of the right cornea. The best-corrected visual acuity was 0.6 in the right eye and 0.7 in the left eye, and the white lesion was observed in the right cornea at the 5 o’clock position. Anterior segment optical coherence tomography revealed that the mass was invaded by the upper stroma and epithelium, and Bowmans’s membrane was destroyed. Histopathologic examination showed fusiform fibroblasts and disorganized collagen. Taken together, these findings suggested corneal keloids. Conclusions Corneal keloids is a rare disease that develops, sometimes, after LASIK surgery. Although there have been cases of this reported in the literature, there had yet to be a case of LASIK-induced corneal keloids in Korea until this study, reported here.

Purpose: We report a patient diagnosed with corneal keloid who had laser-assisted in-situ keratomileusis (LASIK).Case summary: A 41-year-old female presented with LASIK 15 years ago. Seven years later, she presented with a growing white corneal mass located in the lower periphery of the right cornea. The best-corrected visual acuity was 0.6 in the right eye and 0.7 in the left eye, and the white lesion was observed in the right cornea at the 5 o’clock position. Anterior segment optical coherence tomography revealed that the mass was invaded by the upper stroma and epithelium, and Bowmans’s membrane was destroyed. Histopathologic examination showed fusiform fibroblasts and disorganized collagen. Taken together, these findings suggested corneal keloids. Conclusions Corneal keloids is a rare disease that develops, sometimes, after LASIK surgery. Although there have been cases of this reported in the literature, there had yet to be a case of LASIK-induced corneal keloids in Korea until this study, reported here.

Purpose: We assessed changes in ocular biometrics following Ahmed valve implantation. Methods: We conducted a retrospective analysis involving 76 eyes of 76 glaucoma patients who underwent Ahmed valve implantation; these patients were followed up for 6 months. Preoperative data, including age, intraocular pressure (IOP), refractive status, axial length, central corneal thickness, anterior chamber depth (ACD), anterior chamber volume (ACV), and anterior and posterior keratometry, were evaluated preoperatively and at 1 week, 1 month, and 6 months postoperatively. Results: The mean IOP exhibited a significant reduction from 39.17 ± 14.06 mmHg preoperatively to 11.43 ± 3.25 mmHg (p < 0.001), 13.18 ± 4.64 mmHg (p < 0.001), and 12.95 ± 4.37 mmHg (p < 0.001) at 1 week, 1 month, and 6 months postoperatively, respectively. Furthermore, the axial length exhibited a significant post-surgery reduction, measuring 23.74 ± 2.01 mm preoperatively and 23.48 ± 1.86 mm (p < 0.001), 23.57 ± 1.94 mm (p < 0.001), and 23.61 ± 1.98 mm (p = 0.002) at 1 week, 1 month, and 6 months postoperatively, respectively. However, no significant changes were observed in various other parameters, such as anterior and posterior keratometry, refractive status, ACA, ACD, or ACV, at 6 months post-surgery (p > 0.05). Conclusions Ahmed valve implantation resulted in a significant reduction in axial length. Furthermore, it had transient but non-significant effects on keratometry, refractive status, ACA, ACD, and ACV at 6 months after surgery.