BACKGROUND:Intraarticular hyaluronic acid (HA)has been used as one common method in the treatment of osteoarthritis. But its application in treating Kashin-Beck disease (KBD) is generalizing. The effect of HA on chondrocyte metabolism in KBD patients remains unclear.OBJECTIVE:To investigate the effects of HA on the synthesis of collagen Ⅱ and aggrecan in KBD chondrocytes cultured in vitro to understand its clinical treatment for KBD.DESIGN,TIME AND SETTING:Comparative observation. The experiment was performed in the Laboratory Center of Biomedicine and Endemic Disease Laboratory of College of Medicine,Xi'an Jiaotong University from September 2006 to January 2009.MATERIALS:Samples of KBD were from cartilage and corpus liberum excised from 6 KBD patients undergoing knee joint operation,and normal samples of fresh knee cartilages were provided by 6 people undergoing amputation or death by accident METHODS:Chondrocytes of KBD and normal control were separated and cultured in vitro. Varying dosages of HA (100,500 gm/L) were administered to normal and KBD chondrocytes cultured in vitro for 6 days. Negative control was not treated with HA.MAIN OUTCOME MEASURES:Effects of HA on collagen Ⅱ and aggrecan mRNA expression in KBD patients and normal people by RT-PCR.RESULTS:Compared with normal control group,the mRNA level of collagen Ⅱ and aggrecan were lower in KBD (P＜0.05).After administration of HA (100,500 mg/L) the mRNA level of collagen Ⅱ and aggrecan were significantly increased,and the effects of 500 mg/L was more significant.CONCLUSION:HA can increase the collagen Ⅱ and aggrecan mRNA level of KBD chondrocytes cultured in vitro. In particular,500 mg/L HA significantly promoted chondrocyte metabolism compared with 100 mg/L HA.

Objective:To explore the clinical features and prognosis of simultaneous double primary and single primary colorectal cancer patients.Methods:A retrospective case series study was conducted. The clinical data of 45 patients with simultaneous double primary colorectal cancer, 53 patients with single primary colon cancer and 59 patients with single primary rectal cancer in Shanxi Province Cancer Hospital from January 2015 to January 2018 were retrospectively analyzed, including gender, age, drinking history, smoking history, body mass index (BMI), carcinoembryonic antigen (CEA), carbohydrate antigen 199 (CA199), hemoglobin, albumin, TNM stage. The clinicopathological characteristics of the three groups were compared. Survival analysis was performed using the Kaplan-Meier method to compare the overall survival of the three groups.Results:The age of simultaneous double primary colorectal cancer patients was (63±11) years old, including 28 males and 17 females; the age of single primary colon cancer patients was (61±12) years old, including 30 males and 23 females; the age of single primary rectal cancer patients was (60±11) years old, including 30 males and 29 females. There was a significant difference in BMI between patients with double primary cancer and single primary colon cancer ( P = 0.041), but there were no significant differences in gender, age, drinking history, smoking history, CEA, CA199, hemoglobin, albumin and TNM stage (all P > 0.05). There were significant differences in BMI, CEA and CA199 between patients with double primary cancer and single primary rectal cancer (all P < 0.05), but there were no significant differences in gender, age, drinking history, smoking history, hemoglobin, albumin and TNM stage (all P > 0.05). The 1-, 3- and 5-year overall survival rates of the double primary cancer patients were 95.56%, 77.78% and 62.22%, the single primary colon cancer patients were 94.34%, 81.13% and 69.81%, and the single primary rectal cancer patients were 100.00%, 88.14% and 72.88%, respectively. There was no significant difference in OS among patients with double primary cancer, single primary rectal cancer and single primary rectal cancer (both P > 0.05). Conclusions:Abnormally elevated BMI may be associated with the risk of developing simultaneous double primary colorectal cancer. Detection of CEA and CA199 is helpful in monitoring rectal cancer patients for the combination of other primary tumors. The prognosis of patients with single primary colon or rectal cancer is comparable to that of patients with simultaneous double primary colorectal cancer.

Objective To analyze the clinical value of 1.5T MRI DWI and SWI sequence in the diagnosis of cerebral infarction and cerebral hemorrhage.Methods A total of 28 patients with cerebral infarction were selected as control group,and 28 patients with cerebral hemorrhage were selected as observation group.The PHILPS 1.5T magnetic resonance imaging system was applied.The patients were examined by T1WI and T2WI sequence scanning,and DWI and SWI sequence images were obtained.In the two groups,lesions around the center and different characteristics of SWI and DWI were observed and compared,and the measurement of peripheral lesions were measured for calculating the central area of the PV and ADC.Results There was no significant difference between T1WI and T2WI in patients with cerebral hemorrhage and cerebral infarction,but there was significant difference between DWI sequence and DWI sequence.MRI routine examination showed that there were no significant differences in detection rates of T1WI sequence and T2WI sequence between two groups,but the detection rate of DWI sequence in the observation group was significantly lower than the control group,while detection rate of DWI sequence was significantly higher than the control group(P<0.05).The central area of ADC in the observation group was significantly better than that in the control group,and the PV value of the hematoma area was significantly lower than that of the control group(P<0.05).Conclusion Collections of DWI and SWI images of cerebral infarction and cerebral hemorrhage by magnetic resonance prove that there are significant differences between characteristics of two images.

Objective To analyze the clinical value of 1.5T MRI DWI and SWI sequence in the diagnosis of cerebral infarction and cerebral hemorrhage.Methods A total of 28 patients with cerebral infarction were selected as control group,and 28 patients with cerebral hemorrhage were selected as observation group.The PHILPS 1.5T magnetic resonance imaging system was applied.The patients were examined by T1WI and T2WI sequence scanning,and DWI and SWI sequence images were obtained.In the two groups,lesions around the center and different characteristics of SWI and DWI were observed and compared,and the measurement of peripheral lesions were measured for calculating the central area of the PV and ADC.Results There was no significant difference between T1WI and T2WI in patients with cerebral hemorrhage and cerebral infarction,but there was significant difference between DWI sequence and DWI sequence.MRI routine examination showed that there were no significant differences in detection rates of T1WI sequence and T2WI sequence between two groups,but the detection rate of DWI sequence in the observation group was significantly lower than the control group,while detection rate of DWI sequence was significantly higher than the control group(P<0.05).The central area of ADC in the observation group was significantly better than that in the control group,and the PV value of the hematoma area was significantly lower than that of the control group(P<0.05).Conclusion Collections of DWI and SWI images of cerebral infarction and cerebral hemorrhage by magnetic resonance prove that there are significant differences between characteristics of two images.

OBJECTIVETo confirm the genetic diagnosis of two patients with ring chromosome 22 syndrome and investigate the mechanism underlying the formation of r(22) and potential genetic causes for the clinical phenotypes.

METHODSCytogenetic and molecular analyses using standard G-banding, fluorescence in situ hybridization and single nucleotide polymorphism array (SNP array) were performed.

RESULTSFor case 1, the karyotype was 46,XY,r(22)(p11q13). SNP array has identified a 7.0 Mb heterozygous deletion at 22q13.2q13.33. For case 2, the karyotype was 46,XY,r(22)(p11q13)[84]/45,XY,-22[6]; SNP array has detected a heterozygous microdeletion of 1.6 Mb at 22q13.33.

CONCLUSIONWith combined application of genetic testing, 2 cases of r(22) syndrome were diagnosed, which has improved the understanding of the genotype-phenotype correlation of r(22).

Child, Preschool ; Chromosome Banding ; Chromosomes, Human, Pair 22 ; genetics ; Genetic Testing ; Humans ; Male ; Nerve Tissue Proteins ; genetics ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide ; Ring Chromosomes

OBJECTIVETo explore genetic mutation and clinical treatment for a patient with globozoospermia.

METHODSHistomorphology of the sperms was studied by Wright-Giemsa staining and transmission electron microscopy. Potential mutation of the DPY19L2 gene was detected by PCR amplification and Sanger sequencing.

RESULTSWright-Giemsa staining showed that all spermatozoa from the patient were round-headed and lacked the acrosome, with the nuclei of sperm head stained in dark and full. Transmission electron microscopy revealed large round sperm heads, with an even layer of unit membrane surrounding the nuclei and dispersed cytoplasmic vacuoles but no acrosomal structure. The patient has harbored a homozygous deletion of the DPY19L2 gene. With intracytoplasmic sperm injection (ICSI) treatment, fertilization rate of the oocytes has reached 28.6%, which resulted in a successful pregnancy. A healthy male was born.

CONCLUSIONThe homozygous deletion of DPY19L2 probably underlies the globozoospermia in this case, for which ICSI has provided an effective treatment. However, there is still a risk of low oocyte fertilization rate or fertilization failure. Further studies are required.

Adult ; DNA Mutational Analysis ; Humans ; Infant, Newborn ; Male ; Membrane Proteins ; genetics ; Mutation ; Sperm Injections, Intracytoplasmic ; Teratozoospermia ; genetics

Objective:To observe any effect of virtual reality (VR) training on the cognitive functioning and functional fitness of nursing home residents with subjective cognitive decline (SCD).Methods:Fifty-six of such residents were randomly divided into an observation group and a control group, each of 28. Both groups received health education and routine care, but the observation group was additionally provided with 45 minutes of VR training three times a week for 6 months. The training included Baduanjin, magic, flying bird, supermarket shopping, gravity ball and gym episodes. Both groups′ cognition was evaluated using the subjective cognitive decline questionnaire (SCD-Q), the Montreal cognitive assessment (MoCA), the Rivermead Behavioural Memory Test (second edition) (RBMT-Ⅱ), a digit symbol substitution test (DSST), an animal fluency test (AFT) and trail-making test A-B (TMT A-B). Functional fitness was quantified using the 8-foot up-and-go test (8UGT), a 30-second arm curl test (30sACT), a 30-second chair stand test (30sCST), a back scratching test (BST), the sit-and-reach test (CSRT) and a 2-minute step test (2MST) before and after the 6-month intervention.Results:After the intervention, the average SCD-Q, MoCA, RBMT-Ⅱ, DSST, TMT-A, and TMT-B scores of the observation group were significantly better than before the intervention, and significantly better than the control group′s averages. And except for the back scratching their functional results were also significantly better, on average, than those of the control group.Conclusions:VR training can effectively improve the cognition and functional fitness of nur-sing home residents with SCD. Such training is worthy of promotion and wider application in nursing homes.

OBJECTIVE: To assess the clinical efficacy and health economic value of non-invasive prenatal testing (NIPT) for the prenatal screening of common fetal chromosomal aneuploidies. METHODS: 10 612 pregnant women from October 2017 to December 2019 presented at the antenatal screening clinic of the General Hospital of Tianjin Medical University were selected as the study subjects. Results of NIPT and invasive prenatal diagnosis and follow-up outcome for the 10 612 pregnant women were retrospectively analyzed and compared. Meanwhile, NIPT data for two periods were analyzed for assessing the health economic value of NIPT as the second- or first-tier screening strategy for the prenatal diagnosis of fetal trisomies 21, 18 and 13. RESULTS: The NIPT was successful in 10 528 (99.72%) subjects, with the sensitivity for fetal trisomies 21, 18 and 13 being 100%, 92.86% and 100%, and the positive predictive value (PPV) being 89.74%, 61.90% and 44.44%, respectively. The PPV of NIPT for sex chromosome aneuploidies was 34.21%. Except for one false negative case of trisomy 18, the negative predictive value for trisomy 21, trisomy 13 and other chromosomal abnormalities were 100%. For pregnant women with high risk by serological screening, advanced maternal age or abnormal ultrasound soft markers, NIPT has yielded a significantly increased high risk ratio. There was no statistical difference in the PPV of NIPT among pregnant women from each subgroup. NIPT would have higher health economic value as a second-tier screening until 2019, while compared to 2015 ~ 2017, its incremental cost-effectiveness ratio as a first-tier screening had declined clearly. CONCLUSION The screening efficacy of NIPT for trisomies 21, 18 and 13 for a mixed population is significantly better than conventional serological screening, but it is relatively low for sex chromosomal abnormalities. NIPT can also be recommended for populations with relatively high risks along with detailed pre- and post-test genetic counselling. From the perspective of health economics, except for open neural tube defects, it is possible for NIPT to replace the conventional serological screening in the future as its cost continues to decrease.
Pregnancy ; Female ; Humans ; Trisomy/genetics* ; Retrospective Studies ; Prenatal Diagnosis/methods* ; Down Syndrome/genetics* ; Aneuploidy ; Chromosome Aberrations ; Trisomy 18 Syndrome/genetics* ; Sex Chromosome Aberrations ; Fetus

Objective:To analyse the differences of related genes between serum alpha-fetoprotein (AFP) positive gastric cancer and AFP negative gastric cancer, and the relationship between related genes and prognosis of serum AFP positive gastric cancer.Methods:A total of 1 144 gastric cancer patients undergoing surgery at the 940th Hospital , Joint Logistic Support Force, People's Liberation Army from Jan 2013 to Dec 2018 were retrospectively analyzed. Of them, 47 cases were of AFP positive gastric cancer, and 47 serum AFP negative case were obtained by proper matching method.Results:Forty-seven patients with serum AFP positive gastric cancer, accounting for 4.1% of all gastric cancer patients during the same period. The prognosis of serum AFP negative gastric cancer is better than that of serum AFP positive gastric cancer. The 1-, 3- and 5-year cumulative survival rates were 95.6% vs. 63.8%, 48.9% vs. 23.4% and 26.7% vs. 14.9%, respectively. There were statistical differences in the immunohistochemistry of AFP, HER2, VEGF, GPC3, SALL4, P53 and Ki67 between the two groups ( χ2=67.758, P<0.001; χ2=4.004, P=0.044; χ2=19.299, P<0.001; χ2=5.232, P=0.022; χ2=6.359, P=0.012; χ2=6.224, P=0.013; χ2=5.232, P=0.022). The more co-positive expressions of AFP, GPC3, VEGF and SALL4, the more likely they were to affect pTNM stage, vascular invasion and liver metastasis ( χ2=5.328, P=0.021; P=0.013; χ2=5.887, P=0.015; χ2=3.923, P=0.048). Univariate and multivariate survival analysis of serum AFP positive gastric cancer showed:AFP, GPC3, VEGF and SALL4 were risk factors for AFP positive gastric cancer ( HR=3.700, P=0.036; HR=4.237, P=0.003; HR=3.916, P=0.004; HR=3.412, P=0.001). Conclusions:Serum AFP positive gastric cancer is a rare and highly invasive special type of gastric cancer. AFP, GPC3, VEGF and SALL4 are overexpressed in serum AFP positive gastric cancer, which is correlated with tumor stage, vascular invasion and liver metastasis. The final diagnosis of serum AFP positive gastric cancer still needs immunohistochemical examination. Preoperative serum AFP level is an important basis for AFP positive gastric cancer screening and AFP immunohistochemical examination.

The main constituents of a typical medicinal herb,Polygonum muMflorum (Heshouwu in Chinese),that induces idiosyncratic liver injury remain unclear.Our previous work has shown that cotreatment with a nontoxic dose of lipopolysaccharide (LPS) and therapeutic dose of Heshouwu can induce liver injury in rats,whereas the solo treatment cannot induce observable injury.In the present work,using the constituent "knock-out" and "knock-in" strategy,we found that the ethyl acetate (EA) extract of Heshouwu displayed comparable idiosyncratic hepatotoxicity to the whole extract in LPS-treated rats.Results indicated a significant elevation of plasma alanine aminotransferase,aspartate aminotransferase,and liver histologic changes,whereas other separated fractions failed to induce liver injury.The mixture of EA extract with other separated fractions induced comparable idiosyncratic hepatotoxicity to the whole extract in LPS-treated rats.Chemical analysis further revealed that 2,3,5,4'-tetrahydroxy trans-stilbene-2-O-β-glucoside (trans-SG) and its cis-isomer were the two major compounds in EA extract.Furthermore,the isolated cis-,and not its trans-isomer,displayed comparable idiosyncratic hepatotoxicity to EA extract in LPS-treated rats.Higher contents of cis-SG were detected in Heshouwu liquor or preparations from actual liver intoxication patients associated with Heshouwu compared with general collected samples.In addition,plasma metabolomics analysis showed that cis-SG-disturbing enriched pathways remarkably differed from trans-SG ones in LPS-treated rats.All these results suggested that cis-SG was closely associated with the idiosyncratic hepatotoxicity of Heshouwu.Considering that the cis-trans isomerization of transSG was mediated by ultraviolet light or sunlight,our findings serve as reference for controlling photoisomerization in drug discovery and for the clinical use of Heshouwu and stilbene-related medications.