Objective To investigate the correlations of serum Aβ1-42,P-Tau181,and Hcy levels with sleep disorders in patients with Parkinson's disease(PD).Methods A total of 80 PD patients were divided into a normal sleep group(＜7 points)and a sleep disorder group(≥7 points)based on the evaluations with Pittsburgh Sleep Quality Index(PSQI).Univariate and multivariate logistic regression analyses were performed to investigate the correlations between the levels of serum A β1-42,P-Tau181,and Hcy levels and sleep disorders.Receiver operating characteristic(ROC)curves were used to analyze the efficacy parameters of different indicators in pre-dicting sleep disorders in those patients.Results Univariate and multivariate logistic regression analyses showed that serum Aβ1-42 and Hcy were protective and independent risk factors for sleep disorders in the PD patients,respectively(P＜0.05).The predictive AUCs of serum Aβ1-42 and Hcy levels for sleep disorders in the PD patients were 0.757(95%CI:0.652～0.861)and 0.796(95%CI:0.688～0.905),respectively.Conclusion The levels of serum Aβ1-42 and Hcy in PD patients are closely related to sleep disorders.Therefore,they can be used as predic-tive factors for clinical diagnosis of PD with sleep disorders.

Objective:To explore the clinical characteristics of 1q21.1 microdeletion by using single nucleotide polymorphism microarrays (SNP array).Methods:Eighteen cases of 1q21.1 microdeletion syndrome diagnosed at the Longgang District Maternal and Child Health Care Hospital of Shenzhen City from June 2017 to December 2022 were selected as the study subjects. Clinical data of the patients were collected. Results of chromosomal karyotyping and SNP assay were retrospectively analyzed.Results:Among the 18 cases with 1q21.1 microdeletions, 13 had a deletion between BP3 and BP4, 4 had a deletion between BP1/BP2 and BP4, whilst 1 had a proximal 1q21.1 deletion (between BP2 and BP3) involving the Thrombocytopenia-absent radius (TAR) region. The deletions had spanned from 360 kb to 3.9 Mb, which encompassed the GJA5, GJA8, CHD1L, RBM8AB and other morbid genes. In three families, the proband child has inherited the same 1q21.1 microdeletion from their parents, whose clinical phenotype was normal or slightly abnormal. The clinical phenotypes of 1q21.1 microdeletion had included cognitive or behavioral deficits in 9 cases (9/18, 50.0%), growth retardation in 8 cases (8/18, 44.4%), craniofacial deformities in 7 cases (7/18, 38.8%), cardiovascular malformations in 5 cases (5/18, 27.8%), and microcephaly in 3 cases (3/18, 16.7%). Conclusion:1q21.1 microdeletion syndrome has incomplete penetrance and varied expression such as intellectual impairment, growth and development delay, and microcephaly, with a wide range of non-specific phenotypes.

Objective:To investigate the effect of dapagliflozin on cognitive function in middle-aged and elderly type 2 diabetes mellitus patients and related factors.Methods:This was a retrospective study. A total of 200 patients who were hospitalized in the Department of Endocrinology, the Second Affiliated Hospital of Anhui Medical University from August 2021 to August 2022 were recruited randomly. They were divided into the dapagliflozin group and control group. Clinical data were collected; plasma levels of β-amyloid protein(Aβ) 40 and Aβ42 were measured. The Montreal cognitive assessment(MoCA) and the mini-mental state examination(MMSE) were employed to assess cognitive function in both groups. Based on MoCA scores, patients in the dapagliflozin group were further categorized into mild cognitive impairment(MCI) and non-MCI subgroups. Differences among groups were analyzed and compared using t-test, χ2 test, and Mann-Whitney U test, and multivariable logistic regression was used to identify relevant factors associated with cognitive impairment in diabetes patients. Results:Compared to the control group, the dapagliflozin group exhibited significant increases in MMSE and MoCA scores, estimated glomerular filtration rate, and plasma concentration Aβ40(all P<0.05); And the incidence of MCI, homeostasis model assessment for insulin resistance(HOMA-IR), total cholesterol, triglycerides, urine albumin creatine ratio, plasma Aβ42, and Aβ42/Aβ40 ratio were significantly decreased(all P<0.05). Compared with the MCI subgroup, duration of dapagliflozin treatment in the non-MCI subgroup were significantly increased( P<0.05); There were statistically significant decreased in the non-MCI subgroup in age, systolic blood pressure, fasting plasma C-peptide, and HOMA-IR(all P<0.05). Multivariable logistic regression analysis showed that duration of dapagliflozin treatment was a protective factor for cognitive dysfunction( OR=0.322, 95% CI 0.150-0.692, P=0.004) and the age and HOMA-IR were risk factors( OR=1.109, 95% CI 1.014-1.212, P=0.023; OR=3.376, 95% CI 1.276-8.931, P=0.014). Conclusion:Dapagliflozin may improve cognitive function and significantly reduce the incidence of MCI in middle-aged and elderly patients with type 2 diabetes mellitus, possibly associated with the improvement of insulin resistance.

OBJECTIVE: To analyze the indication, karyotyping result, ultrasound finding, pregnancy decision and follow-up of fetuses with sex chromosome aneuploidies (SCA) detected by non-invasive prenatal testing (NIPT) during early and midterm pregnancies. METHODS: The results of 225 singleton pregnancies with fetal SCA detected by NIPT were reviewed and analyzed. RESULTS: The 225 cases included 45,X (n=37), 47,XXY (n=74), 47,XXX (n=50), 47,XYY (n=56) and mosaicisms (n=8), among which 121 (53.8%) have opted to terminate the pregnancy, including 45,X (n=31), 47,XXY (n=61), 47,XXX (n=14), 47,XYY (n=12) and 3 mosaicisms. The remainder 104 (46.2%) have elected to continue with the pregnancy, among which three have opted to terminate due to abnormalities detected by ultrasonography, and two had spontaneous abortions. CONCLUSION NIPT as a first-tier screening method can effectively detect fetal trisomies 21, 13 and 18 as well as SCA. The types of fetal SCA and presence of ultrasound abnormalities are critical factors for the termination of pregnancy.
Aneuploidy ; Down Syndrome ; Female ; Fetus ; Humans ; Pregnancy ; Prenatal Diagnosis ; Sex Chromosome Aberrations ; Trisomy

Objective:To evaluate the clinical effects of orthokeratology lens on children with myopic anisometropia.Methods:Retrospective case series study. The data of 226 myopic anisometropia children, (10.83±1.56)years old, including 95 males and 131 females, fitted with orthokeratology(OK) lens in Beijing Tongren Hospital from June 2017 to June 2019 were collected. According to the lens wearing condition and baseline anisometropia, they were divided into four groups: group A1 with an average age of (10.68±1.66) years (bilateral OK lens wearing with low anisometropia, 1.0 D≤SE difference<2.5 D, 50 males and 61 females), group A2 with an average age of (11.24±1.38) years (bilateral OK lens wearing with moderate and high anisometropia, SE difference≥2.5 D, 10 males and 23 females), group B1 with an average age of (10.79±1.51) years (unilateral OK lens wearing with low anisometropia, 1.0 D≤SE difference<2.5 D, 17 males and 21 females) and group B2 with an average age of (10.97±1.60) years (unilateral OK lens wearing with moderate and high anisometropia, SE difference≥2.5 D, 18 males and 26 females). After wearing OK lens for one year, the changes of axial length(AL) and AL difference were observed and statistically analyzed.Results:(1) AL changes: after wearing OK-lens for one year, AL of each eye increased. In group A1, the AL of the more myopic eyes and the less myopic eyes increased by (0.20±0.21) mm and (0.24±0.22) mm respectively, and the difference was statistically significant ( t=-3.208, P=0.002); in group A2, the AL growth of the more myopic eyes and the less myopic eyes were (0.04±0.11) mm and (0.17±0.14) mm, and the difference was statistically significant ( t=-5.545, P<0.001). In group B1, the AL elongation of the more myopic eyes and the less myopic eyes were (0.14±0.21) mm and (0.39±0.23) mm, and in group B2, the AL growth of the more myopic eyes and the less myopic eyes were (0.11±0.14) mm and (0.54±0.24) mm, with statistically significant differences( t=-6.533, -11.643; all P<0.001). There was a linear correlation between AL elongation and age of the more myopic eyes and the less myopic eyes in group A1(corrected R 2=0.208, 0.237) and group A2 (corrected R 2=0.169, 0.360). There was no linear correlation of the more myopic eyes and the less myopic eyes between AL change and age or baseline myopia in group B1 ( F=0.514, 1.205; P=0.602, 0.312) and group B2 ( F=0.841, 0.056; P=0.439, 0.946). (2)Change of AL difference: after wearing OK lens for one year, the changes of AL difference in groupA1, A2, B1 and B2 were (-0.04±0.14) mm,(-0.13±0.13) mm,(-0.26±0.24) mm and (-0.43±0.25) mm, and the decrease of AL difference in moderate and high anisometropia groups were greater than that in low anisometropia groups ( t =-3.211, -3.180; P=0.002, 0.002).There was a linear correlation between the reduction of AL difference and baseline anisometropia in group A1, A2 and B2 (corrected R 2=0.099, 0.149, 0.230), and there was no linear relationship between the decrease of AL difference and the baseline anisometropia in group B1 ( F=0.014, P=0.908). Conclusions:Orthokeratology could effectively control the progression of myopia and to treat anisometropia. The effect of myopia control was better in the older binocular OK lens wearers, and for the patients with greater baseline anisometropia, the treatment effect of anisometropia was better.

Objective:To evaluate the clinical effects of orthokeratology lens on children with myopic anisometropia.Methods:Retrospective case series study. The data of 226 myopic anisometropia children, (10.83±1.56)years old, including 95 males and 131 females, fitted with orthokeratology(OK) lens in Beijing Tongren Hospital from June 2017 to June 2019 were collected. According to the lens wearing condition and baseline anisometropia, they were divided into four groups: group A1 with an average age of (10.68±1.66) years (bilateral OK lens wearing with low anisometropia, 1.0 D≤SE difference<2.5 D, 50 males and 61 females), group A2 with an average age of (11.24±1.38) years (bilateral OK lens wearing with moderate and high anisometropia, SE difference≥2.5 D, 10 males and 23 females), group B1 with an average age of (10.79±1.51) years (unilateral OK lens wearing with low anisometropia, 1.0 D≤SE difference<2.5 D, 17 males and 21 females) and group B2 with an average age of (10.97±1.60) years (unilateral OK lens wearing with moderate and high anisometropia, SE difference≥2.5 D, 18 males and 26 females). After wearing OK lens for one year, the changes of axial length(AL) and AL difference were observed and statistically analyzed.Results:(1) AL changes: after wearing OK-lens for one year, AL of each eye increased. In group A1, the AL of the more myopic eyes and the less myopic eyes increased by (0.20±0.21) mm and (0.24±0.22) mm respectively, and the difference was statistically significant ( t=-3.208, P=0.002); in group A2, the AL growth of the more myopic eyes and the less myopic eyes were (0.04±0.11) mm and (0.17±0.14) mm, and the difference was statistically significant ( t=-5.545, P<0.001). In group B1, the AL elongation of the more myopic eyes and the less myopic eyes were (0.14±0.21) mm and (0.39±0.23) mm, and in group B2, the AL growth of the more myopic eyes and the less myopic eyes were (0.11±0.14) mm and (0.54±0.24) mm, with statistically significant differences( t=-6.533, -11.643; all P<0.001). There was a linear correlation between AL elongation and age of the more myopic eyes and the less myopic eyes in group A1(corrected R 2=0.208, 0.237) and group A2 (corrected R 2=0.169, 0.360). There was no linear correlation of the more myopic eyes and the less myopic eyes between AL change and age or baseline myopia in group B1 ( F=0.514, 1.205; P=0.602, 0.312) and group B2 ( F=0.841, 0.056; P=0.439, 0.946). (2)Change of AL difference: after wearing OK lens for one year, the changes of AL difference in groupA1, A2, B1 and B2 were (-0.04±0.14) mm,(-0.13±0.13) mm,(-0.26±0.24) mm and (-0.43±0.25) mm, and the decrease of AL difference in moderate and high anisometropia groups were greater than that in low anisometropia groups ( t =-3.211, -3.180; P=0.002, 0.002).There was a linear correlation between the reduction of AL difference and baseline anisometropia in group A1, A2 and B2 (corrected R 2=0.099, 0.149, 0.230), and there was no linear relationship between the decrease of AL difference and the baseline anisometropia in group B1 ( F=0.014, P=0.908). Conclusions:Orthokeratology could effectively control the progression of myopia and to treat anisometropia. The effect of myopia control was better in the older binocular OK lens wearers, and for the patients with greater baseline anisometropia, the treatment effect of anisometropia was better.

Objective To evaluate the efficacy,safety of rigid gas permeable contact lens (RGPCL) wearing for over 5 years in different degrees of keratoconus eyes.Methods A retrospective case study was performed.The clinical data of 217 eyes with different degree of keratoconus from 126 keratoconus patients who fitted with RGPCL in Beijing Tongren Hospital from 2000-2010 over 5 years were analyzed.The eyes were divided into mild keratoconus group (Ks≤45.0 D),moderate keratoconus group (45.0 D＜ Ks ＜ 52.0 D) and severe keratoconus group (Ks ≥52.0 D) according to the severity.Uncorrected visual acuity (UCVA,LogMAR),spectacle corrected visual acuity (SCVA) and RGP corrected visual acuity (RGPVA) was examined before RGPCL wearing and the end of followingup after RGPCL wearing.The refraction,corneal curvature,corneal astigmatism were measured with auto-refractomer/keratometer and keratoconus screening analysis system of computer-assisted corneal topography.Comparisons of the changes of corrected visual acuity and corneal parameters were assessed.Results The RGPVA was 0.09±0.17,0.05±0.07 and 0.07 ±0.07 in the mild,moderate and severe keratoconus group,respectively,showing a significant difference among the three groups (F=0.522,P=0.594);The △Ks was (2.25±5.42),(0.26±3.44) and (-4.52±3.44)D,and △Kf was (2.06±4.98),(1.02±3.41) and (-2.03±5.05)D,and the change value of corneal astigmatism was (0.19±2.87),(-0.78±2.84) and (-2.44±3.77)D in the mild,moderate and severe keratoconus group(all at P＜ 0.05),respectively,with the minimum amount of change in the severe keratoconus group.The variation of differential sector index (△DSI) was-0.33 ± 1.64,0.14±3.01 and-2.11 ±4.28;the variation of center/ surround index (△CSI) was-0.41 ± 1.07,0.03±2.22 and-2.49±4.15;the variation of standard deviation of power (△SDP) was-0.43 ±0.64,-0.02 ±0.89 and-1.67 ± 1.68;the variation of keratoconus prediction index (△KPI)was 0.00±0.07,0.03±0.09 and-0.05±0.11 in the mild,moderate and severe keratoconus group,respectively,and the reduced amount in above parameters was much more in the severe keratoconus group than that in the mild and moderate keratoconus group (all at P＜0.01).Mild conjunctivitis and corneal affection occurred in 12 eyes (5.5％)during the follow-up.Conclusions Long-term wearing RGPCL can improve the visual acuity and slow the tendency of corneal curvature increase in keratoconus eyes,and this procedure is safe and effective for the correction of different degree of keratoconus.

Objective To explore the detection trend of vaginal intraepithelial neoplasia(VaIN)of lower genital tract from 2013 to 2015. Methods A retrospective analysis was undertaken of colposcopy-directed biopsy of cervical, vaginal and vulvar intraepithelial neoplasia lesions include cervical intraepithelial neoplasia (CIN), VaIN and vulvar intraepithelial neoplasia (VIN) in Obstetrics and Gynecology Hospital of Fudan University from January 2013 to December 2015. Results (1) Overall data of CIN, VaIN and VIN:a total of 16732 cases were diagnosed of lower genital intraepithelial neoplasia in 3 years, accounting for 23.20% (16732/72128) of total colposcopy-directed biopsy cases. Among them, CIN, VaIN and VIN accounted for 19.48%(14053/72128), 2.67%(1923/72128), 1.05%(756/72128) of total colposcopy-directed biopsy cases of the lower genital tract, 83.99%(14053/16732), 11.49%(1923/16732), 4.52%(756/16732) of total lower genital intraepithelial neoplasia, respectively. (2) Annual data of CIN, VaIN and VIN from 2013 to 2015. The annual proportion of CIN in all intraepithelial neoplasia of lower gential tract was basically stable, consisting of 86.02%(3955/4598),83.25%(4795/5760) and 83.20%(5303/6374), respectively. The annual proportion of VaIN was gradually increasing, consisting of 8.09% (372/4598), 12.45%(717/5760) and 13.08%(834/6374), respectively. The annual proportion of VIN was gradually decreasing, consisting of 5.89% (271/4598), 4.31% (248/5760) and 3.72% (237/6374), respectively. Conclusion The increasing detection of VaIN from 2013 to 2015 might correlate with the increasing attention to inspection of the entire vaginal wall.

This article was aimed to study the chemical constituents of Dioscorea opposita Thunb.The chemical constituents were isolated and purified by Diaion HP-20,Toyopearl HW-40,Sephadex LH-20,MCI Gel CHP-20,silica gel column chromatography and preparative HPLC,TLC,purification and isolation from Dioscorea opposita Thunb.The structures of isolated compounds were identified by thc physicochemical properties and spectral analysis.The result showed that 14 compounds were isolated from Dioscorea opposita Thunb.The chemical structures were elucidated as L-Tryptophane (1),Seguinosides F (2),1-methoxycarbonyl-β-carboline (3),Helichrysin A (4),Bungein A (5),Hydroquinone (6),Zarzissine (7),Cyclo-(Pro-Thr) (8),4-Hydroxy-3-methoxybenzyl alcohol (9),pyridine-3-carboxamide (10),Arbutin (11),Methyl syringate 4-O-β-D-glucopyranoside (12),L-Phenylalanine (13),1,2-benzenedicarboxylic acid,1,2-bis[2-(2-hydroxyethoxy) ethyl] ester (14).It was concluded that chemical compounds 1-14 were isolated for the first time from Dioscorea opposita Thunb.

Objective Cathepsin K (CTSK) played an important role in adipocyte differentiation.The activation of CTSK needs to convey by mannose-6-phosphate receptors (M6PR) in osteoclasts. The aim of the present study was to identify the effects of mannose-6-phosphate (M6P) in adipocyte differentiation and its underlying molecular mechanism. Methods Oil red O staining, accumulation of cytoplasmic triglycerides and glycerine release were used to assess its effects on adipocyte differentiation in the 3T3-L1cell line. The enzyme activity of CTSK was observed by laser confocal microscopy. The proliferation of 3T3-L1 preadipocytes was detected by MTT methods. mRNA expression of M6PR was determined by RTPCR. Results M6P could prevent adipocyte differentiation in a dose-dependent manner as evidenced by absence of triglyceride accumulation and glycerol content. Statistical significance was showed when the concentrations of M6P were 5.0 mmol/L and 8. 0 mmol/L respectively(P ＜0. 05). The mRNA expression of M6PR was detected during the whole process of adipocyte differentiation. With the increase of M6Pconcentration, enzyme activity of CTSK was inhibited in a concentration-dependent manner. MTT method showed that the absorbance at 570 nm of 3T3-L1 preadipocytes was 0. 057 ±0. 091, increased about 62. 9%at 10. 0 mmoL/L compared with the control group (P ＜ 0. 05 ). Conclusion M6P inhibits the terminal differentiation of adipocyte, which may be associated with its effect of blocking CTSK activity by competitive binding with M6PR.