Objective To determine the value of spectral karyotyping(SKY)in identification of the marker chromosome.Methods Selected six cases that could not be identified in clinic were studied,using samples of peripheral blood from four cases,and samples of amonic fluid and fetal cord blood for prenatal diagnosis in two cases were investigated.All cases were analyzed with the routine SKY method.and the results with the SKY View software.The SKY results were identified by using fluorescence in situ hybridization(FISH).And C-banding technique was used to help diagnose the heterochromatin.Results SKY wag successfully performed on all of 6 cases.The origin of all marker chromosomes was identified by SKY.Except case No.4,the others were confirmed by FISH.It helped determine the pregnancy outcome in two cases of prenatal diagnosis:one case of genetic marker chromosome continued the pregnancy,and another case of de novo marker chromosome was terminated of the pregnancy.Conclusion SKY may be a vahable tool to diagnose the marker chromosome with rapidness,direct-viewing and sensitiveness.It can be used to assess the prognosis and the pregnancy outcome.

Objective To investigate the epidemiologic and clinical features of human immunodeficiency virus (HIV)/hepatitis B virus (HBV)co-infected patients.Methods Patients who confirmed with HIV infection and received highly active anti-retroviral therapy (HAART)at Guangzhou Eighth People′s Hospital were enrolled.HIV/HBV co-infected patients and HIV mono-infected patients were screened and their epidemiological and clinical features were analyzed before HAART.Comparison of the levels of alanine transaminase (ALT),aspartate transaminase (AST),CD4 + T lymphocyte and HIV RNA between the two groups were conducted.The data were statistically analyzed by chi-square test and nonparametric test.Results One hundred and sixty-five out of 1 218 (13.5 %)patients were hepatitis B surface antigen positive.The median ALT and AST levels of HIV mono-infected patients were 29 U/L and 34 U/L respectively,which were both higher than HIV/HBV co-infected patients (22 U/L and 25 U/L, respectively)(Z = - 4.270 and Z = - 5 .780,respectively,both P = 0.000 ).The median CD4 + T lymphocyte count of HIV/HBV co-infected patients was significantly lower than that of HIV mono-infected patients (Z = -2.980,P =0.003 ).The CD4 + T lymphocyte count was lower in hepatitis B e antigen (HBeAg)positive patients than HBeAg negative patients (Z =-2.660,P =0.008).The median CD4 + T lymphocyte count in patients with HBV DNA≥5 lg copy/mL was significantly lower than those with HBV DNA<5 lg copy/mL (Z = -2.311 ,P =0.021 ).The proportions of positive HBV DNA, HBV DNA≥5 lg copy/mL,abnormal ALT and AST in 54 patiens with CD4 + T lymphocyte counts <50/μL were 81 .5 %,66.7%,44.4% and 53.7%,respectively.All were significantly higher than patients with CD4 + T lymphocyte count≥50/μL(χ2 =6.159,P =0.046 ;χ2 =6.618,P =0.037 ;χ2 =7.144,P =0.028 andχ2 =9.586,P =0.008,respectively).Conclusions The prevalence of HBV/HIV co-infection is high in this study.The CD4 + T lymphocyte counts in HIV/HBV co-infected patients are lower,especially in patients with HBeAg positive and high HBV DNA level.The CD4 + T lymphocyte counts are associated with HBV DNA replication levels.

Aim To investigate the effects of red yeast rice capsules containing coenzyme Q10 on femur with an animal model of osteoporosis, which was induced by OVX with D-galactose in rats, and the results were compared with those obtained from diethylstilbestrol. Methods Three-month old female Sprague-Dawley rats were randomly divided into sham group ( CON ) , ovariectomized group ( OVX ) , model group ( MOD ) , diethylstilbestrol group( DES) , and red yeast rice cap-sule group( RYR) . After 60 days, the left femurs were collected for Ca, P and hyp measurement, while the right femurs were performed with three-point bending test and micro-CT evaluation, respectively. Results Compared with CON group, MOD group had a signifi-cant increase in body weight, Tb. Sp, SMI and signifi-cant decrease in maximum load, stiffness, maximum strength, break strength, elastic modulus, Ca, P, Hyp contents and indicators of BV/TV, Tb. N, BMD, Conn-Dens. On the other hand, compared with MOD group, RYR group had a lower body weight and all bone biomechanics indexes were increased without sta-tistically significant difference. At the same time, the content of Ca, P and indicators of BV/TV, Tb. N, Tb. Th, BMD, Conn-Dens increased significantly;yet Tb. Sp decreased significantly. In DES group, the results of indicators were consistent with those for RYR group. In addition, compared with DES group, in RYR group body weight decreased significantly;the content of Ca, P and indicators of BV/TV, Tb. N, Tb. Th, Conn-Dens were significantly higher, and Tb. Sp, SMI were significantly lower. Conclusions Significant bone loss and deteriorated mechanical properties of femur can be observed in animal model of osteoporosis induced by OVX combined with D-galactose. Red yeast rice cap-sules containing coenzyme Q10 show effective prevention effects. Furthermore, red yeast rice capsules(0. 5 tab-let·kg-1 ) have better effect on increasing the number of trabecular bone than diethylstilbestrol ( 30 μg · kg-1 ) does.

Aim To investigate whether D-galactose cause osteoporosis and the difference compared with the osteoporosis induced by ovariectomy, and to deter-mine whether ovariectomy coupled with D-galactose ac-celerated the progress of osteoporosis and whether es-trogen had a preventive effect on these osteoporosis models. Methods Sixty SPF mice were randomly divided into six groups , namely sham-operated group, D-galactose group, OVX group, OVX + D-galactose group, OVX + D-galactose + diethylstilbestrol group and D-galactose + diethylstilbestrol group. Seventy days later, the right tibia was processed with undecal-cified sections for bone histomorphometric analysis. Results Compared with the sham-operated group, %Tb. Ar, Tb. Th and Tb. N decrease by 50. 4%, 25. 4%, 50. 9% ( P <0.01 ) respectively, Tb. Sp in-creased by 169. 4% (P <0.05), Oc. pm, Oc. No. ,%Oc. S, Oc. N/mm which reflected bone absorption significantly increased ( P < 0.01 ) , and % L. Pm, MAR, BFR/TV, BFR/BV, BFR/BS which reflected bone formation significantly decreased ( P <0.01 ) in OVX group. %Tb. Ar decreased by 30. 4% in D-ga-lactose group, but there was no statistically significant difference. However, the four parameters reflected the bone absorption in D-galactose group increased signifi-cantly ( P<0.05 ) , while the four parameters reflected bone formation decreased significantly ( P < 0.05 ) . OVX+D-galactose group has obvious performance of osteoporosis, but there was no significant difference compared to OVX group, nor to D-galactose group. Estrogen had significant preventive effect on related pa-rameters of osteoporosis induced by D-galactose and o-variectomy coupled with D-galactose. ConclusionsOsteoporosis model of mice can be established by OVX, D-galactose and OVX +D-galactose. Estrogen can effectively prevent bone loss induced by D-galac-tose and OVX+ D-galactose.

Objective To investigate the relationship between spontaneous miscarriage and embryonic chromosome abnormalities,and to evaluate the clinical application of karyotype analysis by chorionic villus cell culture. Methods The chorionic villus karyotype of 1983 cases of miscarriage from January 2010 to July 2016 in Guangzhou Women and Children′ s Mecical Center were analyzed retrospectively. The miscarried chorionic villi were obtained by curettage under sterilized condition. The chromosome specimens were prepared after chorionic villus cell culture. Karyotype analysis was performed by G-banding technique. Results In the 1983 samples, successful karyotype analysis was performed in 1770 cases, with the successful rate of 89.98%. Chromosomal abnormalities were found in 1038 cases (58.64%,1038/1770). Chromosomal structural abnormalities were found in 37 cases. The numeral abnormalities were more common than structural abnormalities, and most of the numeral abnormalities were aneupoidies. In turn, they were trisomy 16, 45,X, trisomy 22, trisomy 2, trisomy 21, trisomy 15. The most common structural abnormality was balanced translocation, including Robersonian translocation. Female embryoes accounted for 61.02%(1080/1770) miscarriages and for 57.4%(596/1770) of chromosomal abnormalities, while male embroyes acoounted for 61.02%(1080/1770),57.4%(596/1770)respectively. The proportion of female embryoes was higher than male embryoes. The median age of the patients was 30 years old(16-46 years old). As the maternal age increased, the proportion chromosomal abnormalities increased. The incidence of chromosomal abnormalities in the advanced age group (≥35 years) was 68.38%(240/351), which was significantly higher than that in the younger group (56.24% ,798/1419; χ2=17.10, P<0.01). Conclusions Embryonic chromosomal abnormalities are the most common cause of early spontaneous miscarriage. The abnormalities centralize in some karyotypes. There is certain relationship between maternal age and the incidence of miscarriage, as well as the embryonic gender. Chorionic villus cell culture and karyotype analysis are helpful in finding the cause of miscarriage and counsel the patients.

Objective:To explore the different patterns of brain structural abnormalities in patients with delayed neuromyelitis optica pedigree disease (LO-NMOSD) and its relationship with clinical neuropsychological scale score based on the quantitative analysis of three-dimensional (3D) brain structure MRI.Methods:Patients with neuromyelitis optica pedigree disease in remission (NMOSD group) who received treatment at Jilin University First Hospital from January 2016 to December 2018 were prospectively included and divided into LO-NMOSD subgroup and early-onset NMOSD (EO-NMOSD) subgroup according to whether the age of first onset was>50 years. Another age-and sex-matched healthy volunteers with NMOSD patients were recruited as the control group. 3D brain T 1WI and T 2 fluid-attenuated inversion recovery sequence imaging were acquired, and clinical data, neuropsychological scores of all subjects were analyzed. Total gray matter volume (GMV), cerebral gray matter fraction (GMF), cerebral white matter fraction (WMF), and cerebral white matter high signal fraction (WMHF) were obtained by quantitative analysis of MRI data using voxel-based morphology and lesion segmentation tool techniques. Analysis of covariance was used to compare the differences in brain structure between LO-NMOSD subgroup and EO-NMOSD subgroup, NMOSD group and control group. Partial correlation analysis was used to analyze the correlation between GMF, WMHF and patient clinical data, neuropsychological scale scores, and the correlation between WMHF and GMF, WMF. Results:There were 47 cases in the NMOSD group, including 7 males and 40 females aged 18-66 years. Among them, there were 20 cases in the LO-NMOSD subgroup and 27 cases in the EO-NMODS subgroup. The control group consisted of 50 individuals (13 males and 37 females, aged 18 to 77 years). Compared with the control group, the GMV of the right caudate nucleus in the LO-NMOSD group was reduced ( t=3.33, P<0.05), and the GMV of multiple brain regions in the bilateral frontal and temporal lobes in the EO-NMOSD group was reduced considerably (FDR corrected, P<0.05), which was consistent with the NMOSD group. After adjusting for age, there was no statistically significant difference in WMHF between the LO-NMOSD and EO-NMOSD groups ( F=0.22, P=0.644). The LO-NMOSD subgroup showed a negative correlation between global GMF and the extended disability status scale (EDSS) score ( r=-0.53, P=0.025). WMHF in the NMOSD group was positively correlated with annual recurrence rate and EDSS ( r=0.35 and 0.35, respectively, and P=0.017 and 0.018, respectively), while other indicators were not correlated ( P>0.05). The EO-NMOSD subgroup WMHF showed a negative correlation with GMF and WMF ( r=-0.76, -0.70, respectively, P<0.001). The NMOSD group showed a negative correlation between WMHF and GMF, WMF ( r=-0.38, -0.55, respectively, P<0.05). There was no correlation between WMHF and GMF, WMF in the LO-NMOSD subgroup ( P>0.05). Conclusions:The extent and location of gray matter atrophy in patients with LO-NMOSD are different from those of EO-NMOSD. The correlation between WMHF and brain structural changes and clinical data is different between the two groups of patients. These suggest that LO-NMOSD patients may have different patterns of brain structural damage.

Objective To investigate the prevalence and patterns of lamivudine (3TC) resistance mutations in acquired immune deficiency syndrome (AIDS)/chronic hepatitis B (CHB) co-infected patients receiving 3TC as a part of antiretroviral therapy.Methods Data of patients with AIDS/CHB co-infection from 2005 to 2010 were collected.HBV DNA was tested at the time of highly active antiretroviral therapy (HAART) and after 12,24,36,48 and 60 months therapy.HBV reverse transcriptase (RT) was amplified in detectable samples.3TC resistance mutations were identified.Results 185 co-infected patients were enrolled.3TC resistance mutations were negative at the time of HAART.3TC resistance mutations occurred in 29 co-infected patients after treatment,of these,7 patients were detected resistance mutations in two different points.9 patients were HBV non-viraemia at the time of antiviral therapy.Resistance mutations were detected after 12 months therapy in 3 patients.Patients with 3TC resistance mutations were more frequently HBeAg positive (65.5％ vs.33.3％,P =0.001),had higher HBV viral load (7.49 copies/ml vs.6.59 copies/ml,P =0.017) and longer duration of 3TC (40 months vs.26.5 months,P ＜ 0.001) than patients without 3TC resistance mutations.Four patterns of 3TC resistance mutations were detected:rtM204I (n=7),rtL180M (n=2),rtL180M + rtM204V/I (n =23) and rtL80V +rtM204I (n=4).Conclusions The prevalence of 3TC resistance mutations is low among AIDS/CHB co-infected patients in Guangzhou.Patients with HBV DNA negative before HAART are likely to develop resistance early during therapy.

OBJECTIVETo evaluate the method of array-based comparative genomic hybridization (array-CGH) in identifying unbalanced chromosome aberrations.

METHODSFour cases that could not be diagnosed by conventional cytogenetic technique were selected to undergo array-CGH analysis. DNA samples were extracted and hybridized with the Affymetrix SNP 6.0 arrays using Human Mapping SNP6.0 assay kit following the manufacturer's standard protocol. The data were analyzed by two professional software packages, GCOS and Genotyping Console.

RESULTSBy using array-CGH technique, all the four cases were diagnosed precisely through identifying two duplications and two complex derivative chromosomes.

CONCLUSIONArray-CGH is an effective method for whole-genome identification of unbalanced chromosomal aberrations with high sensitivity and specificity. It has a great value to investigate the correlations between genotype and phenotype in clinical service, especially in prenatal diagnosis.

Adolescent ; Adult ; Cells ; cytology ; Child, Preschool ; Chromosome Aberrations ; Comparative Genomic Hybridization ; methods ; Genetic Diseases, Inborn ; diagnosis ; genetics ; Humans ; Infant ; Male ; Young Adult

Objective:To analyze the consistency between karyotyping and quantitative fluorescent- polymerase chain reaction (QF-PCR) in prenatal diagnosis.Methods:This study retrospectively analyzed the clinical data of 10 967 patients undergoing karyotyping and QF-PCR for prenatal diagnosis in Guangzhou Women and Children's Hospital from January 2010 to December 2017. The failure rate, results, and diagnosis of common chromosomal disorders of the two methods were compared. The sensitivity and specificity of QF-PCR in detecting chromosomal mosaicism were evaluated using the receiver operative characteristic (ROC) curve.Results:(1) The failure rates of karyotyping and QF-PCR were 0.99% (109/10 967) and 0.10% (11/10 967), respectively. (2) The karyotypes of 9 960 out of the 10 858 successfully cultured samples were normal, and 99.89% (9 949/9 960) results were consistent between the two methods. The other 898 cases included 694 (77.28%) with common chromosomal abnormalities (trisomy 21, 18 and 13 and sex chromosomal abnormality) and 204 (22.72%) with other chromosomal abnormalities. The consistency between the two methods in detecting common chromosomal abnormalities was 95.68% (664/694). (3) The consistency in the detection of trisomy 21, 18 and 13 and sex chromosomal abnormality between karyotyping and QF-PCR were 99.74% (382/383), 100.00% (125/125), 100.00% (33/33) and 81.05% (124/153). However, the common chromosomal mosaicism was only noted for 44.44% (24/54). (4) Among cases with a mosaic ratio over 18.5%, the sensitivity and specificity of QF-PCR were 0.958 (95% CI: 0.789-0.999) and 0.600 (95% CI: 0.406-0.773) with the area under the ROC curve (AUC) of 0.811 (95% CI: 0.696-0.926, P<0.001). (5) Thirty cases with negative QF-PCR results but positive mosaic chromosomal aberrations were followed up. Ten (33.3%) pregnant women terminated their pregnancies, and two (6.7%) were lost to follow-up. The other 18 cases delivered healthy neonates that all survived after birth. Conclusions:In prenatal diagnosis, QF-PCR and karyotyping were highly consistent in the detection of trisomy 21, 13, and 18, but have significant discordance in the diagnosis of sex chromosomal abnormality.

We retrospectively analyzed therapy efficacy and the adverse reactions of 10 patients suffering from systemic lupus erythematosus (SLE) with intestinal involvement treated with rituximab (RTX). Patients were hospitalized in the Department of Rheumatology and Immunology of the First Medical Center of PLA General Hospital from January 2015 to January 2023. Among the 10 patients, two were men and eight were women. The age of the cohort was (41.9±8.8) years. The age at disease onset was (28.8±9.2) years. The total course of the SLE diagnosis was(109.6±59.9) months. The course of the diagnosis of SLE with intestinal involvement was (89.3±50.2) months. The time from the appearance of intestinal symptoms to the diagnosis of SLE with intestinal involvement was 1.5 (1.0,8.0) months. The time from the diagnosis of SLE with intestinal involvement to RTX use was 13.0 (1.0,46.3) months. Follow-up duration after application of RTX treatment was (55.3±28.4) months. There were five cases of abdominal pain, four cases of abdominal distension, nine cases of diarrhea, three cases of nervous-system involvement, nine cases of lupus nephritis, and seven cases of serositis. All 10 patients underwent computed tomography and radiology of the abdomen. Eight patients had intestinal-wall edema, seven suffered intestinal dilation, four had target signs, three suffered congestion of mesenteric blood vessels, eight had increased mesenteric-fat density, and six had false intestinal obstruction. All 10 patients showed a low level of complement C3 (250-750 mg/L). Nine cases showed a low level of complement C4 (10-90 mg/L). The SLE disease activity index 2000 (SLEDAI-2K) at baseline in 10 patients was 20.5 (17.8, 30.0). After receiving RTX (0.5 g: day 1, day 14, or 375 mg/m 2: day 1, day 14) induction treatment, the intestinal symptoms of 10 cases were relieved completely. Four patients had adverse reactions, of which three received a high-dose glucocorticoid combined with RTX treatment simultaneously. Adverse reactions manifested mainly as a reduced level of IgG and infection with herpes simplex virus in one case, reduced level of IgG and lung infection in one patient, lung infection in one case, and reduced IgG level in one patient. RTX may an efficacious treatment strategy for patients suffering from refractory SLE with intestinal involvement.