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1.
Asian Journal of Andrology ; (6): 319-324, 2021.
Article in English | WPRIM | ID: wpr-879754

ABSTRACT

This study aimed to assess the association between psychological disorders and erectile dysfunction (ED) in patients with different degrees of chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS). This was a retrospective study conducted from June 2017 to October 2019 and included 182 outpatients. Patients were interviewed using the Structured Interview on Erectile Dysfunction (SIEDY) for pathogenic quantification. The National Institutes of Health-Chronic Prostatitis Symptom Index (NIH-CPSI) and the International Index of Erectile Function-5 (IIEF-5) were used for the evaluation of CP/CPPS and ED. The Generalized Anxiety Disorder-7 (GAD-7) and Patient Health Questionnaire-9 (PHQ-9) were used to assess anxiety symptoms and depressive symptoms. The number of patients with mild CP/CPPS and mild ED, mild CP/CPPS and moderate-to-severe ED, moderate-to-severe CP/CPPS and mild ED, and moderate-to-severe CP/CPPS and moderate-to-severe ED was 69 (37.9%), 36 (19.8%), 35 (19.2%), and 42 (23.1%), respectively. The corresponding PHQ-9 scores of the four groups were 6.22, 7.19, 10.69, and 7.71, respectively. The corresponding GAD-7 scores of the four groups were 5.26, 6.31, 8.77, and 6.36, respectively. Among patients with moderate-to-severe CP/CPPS, the PHQ-9 and GAD-7 scores of the moderate-to-severe ED group were significantly lower than those of the mild ED group (P = 0.007 and P = 0.010, respectively). The prevalence of ED and premature ejaculation (PE) in patients with moderate-to-severe CP/CPPS was significantly higher than that in patients with mild CP/CPPS (P = 0.001 and P = 0.024, respectively). Our findings proved that the severity of ED was negatively associated with psychological symptoms in outpatients with moderate-to-severe CP/CPPS.

2.
Article in Chinese | WPRIM | ID: wpr-879624

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a patient with tuberous sclerosis complex.@*METHODS@#Genomic DNA was extracted from peripheral blood samples from members of his family and 100 unrelated healthy controls. The proband was subjected to next-generation sequencing, and candidate variant was confirmed by multiple ligation-dependent probe amplification (MLPA) and Sanger sequencing. Reverse transcription-PCR (RT-PCR) was carried out to determine the relative mRNA expression in the proband.@*RESULTS@#The patient was found to harbor a c.2355+1G>C splicing variant of the TSC2 gene. Sequencing of cDNA confirmed that 62 bases have been inserted into the 3' end of exon 21, which has caused a frameshift producing a truncated protein.@*CONCLUSION@#The novel splicing variant c.2355+1G>C of the TSC2 gene probably underlay the TSC in the proband. Above finding has expanded the variant spectrum of TSC2 and provided a basis for preimplantation genetic testing and/or prenatal diagnosis.


Subject(s)
Female , Humans , Mutation , Pregnancy , RNA Splicing/genetics , Tuberous Sclerosis/genetics , Tuberous Sclerosis Complex 1 Protein/genetics , Tuberous Sclerosis Complex 2 Protein/genetics
3.
Article in Chinese | WPRIM | ID: wpr-879404

ABSTRACT

OBJECTIVE@#To compare accuracy of anterior cervical pedicle screws between assist of rapid prototyping 3D guide plate and free-hand insertion, and evaluate the safety of two methods.@*METHODS@#Eight adult cervical cadaver specimens after formaldehyde immersion, including 4 males and 4 females, aged 32 to 65(40.3±5.6) years old. After X-ray examination to exclude bone damage and deformity, 4 of them (3D guide plate group) randomly selected were for CT scan to obtain DICOM format data, and the data was imported into Mimics software for model, designed the ideal entry point and nail path for anterior cervicaltranspedicular screw (ATPS). After obtaining the personalized guide plate of the nail channel, it was exported as STL data, and the individual guide plate was printed by rapid prototyping and 3D printing technology. In turn, with the assistance of 3D guide plates, one-to-one personalized ATPS screws were placed on the four lower cervical cadaver specimens. Another 4 (free-hand group) lower cervical cadaver specimens were implanted with ATPS screws using free-hand technique. All specimens were performed CT thin-layer scanning and three-dimensional reconstruction after operation. The Tomasino method was used to evaluate the safety of the screws on the CT cross-sectional and sagittal images, to determine whether there was a cortical puncture of the lower and inner edges of the pedicle. According to the CT rating results, gradeⅠandⅡwere safe, and grade Ⅲ- Ⅴ were dangerous.And the accuracy of screws was recorded and analyzed between two groups.@*RESULTS@#Two screws were inserted in each segment from C@*CONCLUSION@#The 3D printing rapid prototyping guide plate assisted insertion of the anterior cervical pedicle screw can significantly improve the accuracy and safety, and provide a theoretical basis for further clinical application.


Subject(s)
Adult , Aged , Bone Plates , Cervical Vertebrae/surgery , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , Pedicle Screws , Printing, Three-Dimensional
4.
Article in Chinese | WPRIM | ID: wpr-879402

ABSTRACT

OBJECTIVE@#To explore the short-term clinical efficacy of single-stage cervical spondylotic radiculopathy (CSR) between the minimally invasive Key-hole technique and anterior cervical Zero profile intervertebral fusion system (Zero-P).@*METHODS@#A retrospective analysis was performed on 45 patients who underwent surgical treatment for CSR from January 2017 to January 2020, including 21 in Key hole group (12 males and 9 females), followed up for 10-22(13.2±2.3) months;24 cases in Zero-P group (14 males and 10 females), and the follow up period was 10 to 23(12.7±1.9) months. Perioperative conditions (incision length, intraoperative blood loss, operation time, length of hospital stay, and complications) were compared between two groups, and X-rays of cervical spine before and after surgery and at the final follow-up were taken to analyzed curvature of the cervical spine, visual analogue scale(VAS) of pain before and after surgery, Oswestry Disability Index(ODI) and Japanese Orthopaedic Association (JOA) score of cervical spine were recorded to evaluate clinical efficacy.@*RESULTS@#In Key-hole group and Zero-P group, the surgical incision length, intraoperative blood loss, operation time, final follow-up Cobb angle and immediate postoperative VAS score respectively were (1.2±0.2) cm, (5.3±0.3) cm;(35.3±9.7) ml, (120.2±13.5) ml;(56.4±11.3) min, (90.6±12.6) min;(3.2±3.9)°, (7.3±3.8)°;(2.8±1.2)points, (3.8±1.1) points;the Zero-P group was larger than the Key hole group, with statistical significance(@*CONCLUSION@#The cervical spine Key-hole technology is similar to the anterior cervical Zero-P system in the treatment of CSR. The Key-hole technique has certain advantages in incision length, intraoperative blood loss, and operation time. It is a safe, effective and can be widely used cervical spine surgery method.


Subject(s)
Case-Control Studies , Cervical Vertebrae/surgery , Female , Humans , Male , Radiculopathy/surgery , Retrospective Studies , Spinal Fusion , Spondylosis/surgery , Treatment Outcome
5.
Article in Chinese | WPRIM | ID: wpr-879118

ABSTRACT

Traditional Chinese medicine(TCM) is an important feature of cancer treatment in China. The methods to tap the advantages of TCM, reasonably evaluate and accurately apply Chinese patent medicines have become current research hotspots and difficulties. TCM takes syndrome differentiation and treatment as the core, with the characteristics of overall regulation and multi-targets efficacy. Therefore, the post-marketing survival benefit evaluation of Chinese patent medicines for cancer is different from that in modern medicine. The primary treatment goals in cancer patients include to improve the disease control rate and prolong their survival time. At present, Chinese patent medicines for cancer patients are lacking indepth studies on survival benefit at the post-marketing stage. In addition, the characteristics of individualized treatment with TCM have also increased the complexity of clinical research on TCM. Therefore, it is of certain practical significance and necessity to evaluate the survival benefit of Chinese patent medicines for cancer after marketing. Based on this, in this paper, we first summarized the technical methodological means of survival benefit evaluation at this stage, and then explored the post-marketing survival benefit evaluation of Chinese patent medicines for cancer from three aspects: the evaluation of cancer treatment effect based on survival time and quality of life, treatment-related toxicity and the auxiliary effect of TCM, and the improvement effect for tumor-related symptoms. Based on the practices of early clinical researches, and according to the insufficient efficacy evaluation of current clinical research on Chinese patent medicines, this paper proposed to improve the evaluation system for clinical researches on Chinese patent medicines, establish the evaluation method with TCM characteristics, clarify the dominant population, lay a theoretical foundation for the evaluation of post-marketing survival benefits of Chinese patent medicines for cancer in the future, and promote the modernization process of TCM.


Subject(s)
China , Drugs, Chinese Herbal/therapeutic use , Humans , Marketing , Medicine, Chinese Traditional , Neoplasms/drug therapy , Nonprescription Drugs/therapeutic use , Quality of Life
6.
Article in Chinese | WPRIM | ID: wpr-878434

ABSTRACT

Bone invasion by oral cancer is a common clinical problem, which affects the choice of treatment and predicts a poor prognosis. Unfortunately, the molecular mechanism of this phenomenon has not been fully elucidated. Current studies have revealed that oral cancer cells modulate the formation and function of osteoclasts through the expression of a series of signal molecules. Many signal pathways are involved in this process, of which receptor activator of nuclear factor-κB ligand/receptor activator of nuclear factor-κB/osteoprotegerin signaling pathway attracted much attention. In this review, we introduce recent progress in molecular mechanisms of bone invasion by oral cancer.


Subject(s)
Bone Resorption , Bone and Bones , Humans , Mouth Neoplasms , Osteoclasts , Osteoprotegerin , RANK Ligand , Receptor Activator of Nuclear Factor-kappa B
7.
Article in English | WPRIM | ID: wpr-878416

ABSTRACT

Oral squamous cell carcinoma (OSCC) is the most frequent tumour in head and neck malignant. The current treatment is mainly based on surgery therapy, radiation therapy and chemical therapy. Meanwhile, there are many a defect in the treatment. For example, there are many defects in radiotherapy. Radioactive salivatitis is the most common. In addition, there are a series of changes such as dry mouth, oral mucositis, rampant dental caries, and radioactive osteomyelitis of jaw, which cause swallowing, chewing problems, and taste dysfunction. Currently, the research on radioactive salivatitis is progressing rapidly, but its mechanism is more complication. This paper review aims to summarize the research progress in this field.


Subject(s)
Carcinoma, Squamous Cell , Dental Caries , Head and Neck Neoplasms/radiotherapy , Humans , Mouth Neoplasms , Radiation Injuries , Salivary Glands , Xerostomia/etiology
8.
Article in English | WPRIM | ID: wpr-878316

ABSTRACT

Objective@#The relationship between serum uric acid (SUA) levels and glycemic indices, including plasma glucose (FPG), 2-hour postload glucose (2h-PG), and glycated hemoglobin (HbA1c), remains inconclusive. We aimed to explore the associations between glycemic indices and SUA levels in the general Chinese population.@*Methods@#The current study was a cross-sectional analysis using the first follow-up survey data from The China Cardiometabolic Disease and Cancer Cohort Study. A total of 105,922 community-dwelling adults aged ≥ 40 years underwent the oral glucose tolerance test and uric acid assessment. The nonlinear relationships between glycemic indices and SUA levels were explored using generalized additive models.@*Results@#A total of 30,941 men and 62,361 women were eligible for the current analysis. Generalized additive models verified the inverted U-shaped association between glycemic indices and SUA levels, but with different inflection points in men and women. The thresholds for FPG, 2h-PG, and HbA1c for men and women were 6.5/8.0 mmol/L, 11.0/14.0 mmol/L, and 6.1/6.5, respectively (SUA levels increased with increasing glycemic indices before the inflection points and then eventually decreased with further increases in the glycemic indices).@*Conclusion@#An inverted U-shaped association was observed between major glycemic indices and uric acid levels in both sexes, while the inflection points were reached earlier in men than in women.


Subject(s)
Aged , Asian Continental Ancestry Group , Blood Glucose/analysis , China/epidemiology , Cohort Studies , Diabetes Mellitus/blood , Female , Glucose Tolerance Test , Glycated Hemoglobin A/analysis , Glycemic Index , Humans , Male , Middle Aged , Uric Acid/blood
9.
Article in Chinese | WPRIM | ID: wpr-877606

ABSTRACT

OBJECTIVE@#To compare the clinical efficacy of cupping treatment combined with antibiotics and antibiotics alone for bacterial pneumonia in children.@*METHODS@#A total of 72 children with bacterial pneumonia were randomly divided into an observation group (36 cases, 1 case dropped off) and a control group (36 cases). The children in the control group were treated with intravenous drip of cefodizine sodium [80 mg/(kg•d)] for 7 days. Based on the treatment of the control group, the children in the observation group were treated with cupping treatment on the bladder meridian of the back on the first day and the fourth day of antibiotic treatment; each cupping treatment was given for 5-10 min; the treatment of observation group was given for 7 days. The days for complete fever reduction, TCM syndrome scores and Canadian acute respiratory illness flu scale (CARIFS) scores before and after treatment were observed, and the clinical efficacy was evaluated.@*RESULTS@#The days for complete fever reduction in the observation group were shorter than that in the control group (@*CONCLUSION@#Cupping treatment combined with antibiotics has similar efficacy with antibiotics alone for bacterial pneumonia in children, but shows better effect in shortening the duration of fever and improving pulmonary symptoms.


Subject(s)
Anti-Bacterial Agents , Canada , Child , Cough , Cupping Therapy , Humans , Pneumonia, Bacterial , Treatment Outcome
10.
Journal of Clinical Hepatology ; (12): 1254-1258, 2021.
Article | WPRIM | ID: wpr-877311

ABSTRACT

Nonalcoholic fatty liver disease (NAFLD) has become the most important chronic liver disease in China and a major cause of liver transplantation in developed countries in Europe and America. Among the various phenotypes of NAFLD, nonalcoholic steatohepatitis (NASH) is highly likely to progress to end-stage liver disease including liver cirrhosis and liver cancer, resulting in an increase in liver-related mortality. However, there are still no therapeutic drugs for NASH at present, and many new drugs are under development in ongoing clinical trials. The research and development of new drugs for NASH require the selection of an appropriate target population and treatment outcomes depending on anti-metabolic, anti-inflammatory or anti-fibrotic effect. This article summarizes and reviews several key factors in the research and development of new drugs for NASH.

11.
Acta Pharmaceutica Sinica ; (12): 383-390, 2021.
Article in Chinese | WPRIM | ID: wpr-873786

ABSTRACT

Alzheimer's disease (AD) is a neurodegenerative disease characterized by memory loss and cognitive impairment. To date, however, no disease-modifying strategies to prevent or cure AD exist. Synapses are involved in the connection of neurons and present as the key component for the memory and other neural activities. Synapse loss is a critical hallmark of AD pathology. In brain, glia cells, including microglia and astrocytes, are a group of highly specific cell types other than neurons. Microglia and astrocytes play a key role in maintaining the healthy neural circuit and regulating synaptic plasticity. Under development and physiological conditions, glial cells contribute to construct and maintain mature central neural networks via synaptic pruning. However, during AD pathogenesis, glial cells engulf synapses excessively, which leads to synapse loss, neuronal dysfunction, and cognitive impairment. Here, we review recent advances in our understanding of the underlying mechanisms for glia-mediated synaptic pruning in AD, and provide a novel strategy for the development of AD drugs.

12.
Acta Pharmaceutica Sinica ; (12): 503-510, 2021.
Article in Chinese | WPRIM | ID: wpr-873781

ABSTRACT

Drug use during pregnancy is unavoidable. Therefore, it is vitally important for medical workers to help pregnant women take drugs correctly to reduce the incidence of spontaneous abortion, premature birth, and low birth weight. In our study, drug screening model with induced pluripotent stem cells (iPSCs) was used to find some improper drugs which will result in woman's abortion. With 3D culture in vitro, iPSCs can form embryoid bodies (EBs) and cerebral organoids, which simulated in vitro development of early embryos, from inner cell mass to germ-layer differentiation. In the experiment, EBs were exposed to mifepristone (RU486), and three experimental groups were divided randomly. They were control group (without RU486), low-dose group (L-RU486, 10 μg·mL-1), and high-dose group (H-RU486, 20 μg·mL-1). After mifepristone exposure, EBs were observed at days 5, 8, and 11, including size of EB, cell apoptosis, and differentiation of germ layers, by using inverted optical microscope, TUNEL assay, and immunofluorescent staining. The results showed that through 3D culture, iPSCs could develop into embryoid bodies, neural rosettes, and finally cerebral organoids. After mifepristone exposure, EBs' sizes were decreased (P < 0.01); the levels of cell apoptosis in EBs were increased after mifepristone exposure (P < 0.01); the development of EBs' germ layer was affected. Mifepristone exposure could inhibit the proliferation of embryonic stem cells, reduce the differentiation of ectoderm (P < 0.01) and promote the development of mesoderm (P < 0.05). In conclusion, iPSCs can be used as a screening model for abortion drug, and EBs’ diameter, cell apoptosis, and differentiation changes of the germ layers can serve as criteria of abortion drug screening.

13.
Article in Chinese | WPRIM | ID: wpr-885703

ABSTRACT

Objective:To evaluate the clinical efficacy and safety of SpyGlass-guided laser lithotripsy for large common bile duct (CBD) stones with diameter>2 cm.Methods:From August 2015 to August 2018, a total of 157 patients with large CBD stones at the First Affiliated Hospital of Shandong First Medical University who met the inclusion criteria were randomly divided into SpyGlass group ( n=78, underwent SpyGlass-guided laser lithotripsy) and laparoscopic common bile duct exploration (LCBDE) group ( n=79, underwent LCBDE) by using random numbers. Non-inferiority test was used for rates of one-time stone removal and total stone removal, and the non-inferiority margin was set to 10%. The transform rate, incidence of short-term complications, hospital stay, and quality of life (assessed by the gastrointestinal quality of life index) were compared between the two groups. Results:The total success rates of stone clearance were 92.3% (72/78) and 96.2% (76/79) in the SpyGlass group and LCBDE group, respectively ( P=0.023), with valid non-inferiority hypothesis. The one-time stone removal rates were 83.3% (65/78) and 96.2% (76/79), respectively ( P=0.124), with invalid non-inferiority hypothesis. There were no significant differences in the incidence of transform [7.7% (6/78) VS 3.8% (3/79), P=0.294] or short-term complications [5.1% (4/78) VS 10.1% (8/79), P=0.246] between the two groups. Compared with the LCBDE group, the SpyGlass group had a shorter hospital stay (5.65±0.94 d VS 8.84±1.54 d, P=0.001) and higher scores of gastrointestinal quality of life index (1 month after operation: 99.85±4.36 VS 91.51±5.47, P=0.001; 3 months after operation: 131.24±3.32 VS 112.32±7.77, P=0.001). Conclusion:For large CBD stones, the efficacy of SpyGlass-guided laser lithotripsy is not inferior to LCBDE, and it is less invasive. In the future, SpyGlass-guided laser lithotripsy could be an important option for the treatment of large CBD stones.

14.
Article in Chinese | WPRIM | ID: wpr-885607

ABSTRACT

Objective:To explore the changes in the diffusion tensor imaging (DTI) parameters of the pontocerebellar tract 3 months and one year after ischemic stroke and analyze the data′s potential for predicting long-term motor outcomes.Methods:Thirty patients with middle cerebral artery infarction were prospectively studied using DTI within 3 months and 1 year after the onset. A region of interest-based analysis was performed for the fractional anisotropy (FA) of the middle cerebellar peduncles (MCP) in the pontocerebellar fibers (PCF). Neurological functioning was evaluated using the National Institutes of Health Stroke Scale and the degree of paresis was assessed at the same time using paresis grading. At one year after the onset, balance function, functional prognosis and self-care ability were evaluated using the Brunel Balance Scale, the modified Rankine Scale and the Functional Independence Scale respectively.Results:The average FA on the healthy side 3 months and 1 year after onset was significantly less than on the affected side at each time point. The ratio of the FA of the affected side to that of the unaffected side (rFA) in the PCF correlated significantly with the average paresis scores of the lower and upper extremity and the total paresis score at each time point. Moreover, the rFA of the PCF was significantly correlated with the average functional independence score, the prognosis for the upper and lower extremities as well as motor functioning. The area ratio under the ROC curve of the PCF for predicting lower extremity motor outcome was 0.84, and the optimal threshold was 0.92 (sensitivity 71.4%, specificity 73.9%). The area ratio under the ROC curve was not a significant predictor of upper extremity motor outcome.Conclusion:The DTI parameter rFA of the PCF in patients with subacute middle cerebral artery infarction can help to predict the long-term recovery of motor ability. It can serve as an important reference index for predicting the long-term motor ability of the lower limbs.

15.
Article in Chinese | WPRIM | ID: wpr-885582

ABSTRACT

Objective:To investigate the abnormal results of chromosomal microarray analysis (CMA) in the subsequent pregnancy of women with adverse pregnancy history, and explore the applicability of CMA in women with different genetic etiology.Methods:Out of 5 563 pregnant women who received CMA test in Nanjing Drum Tower Hospital during June 2014 and July 2020, 169 cases that underwent prenatal diagnosis due to isolated adverse pregnancy history were retrospectively collected in this study. All the participants were divided into three groups based on the etiology type of probands, genetic origin and expected CMA outcome: high-risk group ( n=19, including 11 cases with inherited pathogenic copy number variations and eight cases with inherited chromosomal abnormalities), low-risk group ( n=113, including six cases with negative whole exome sequencing and/or CMA findings, 31 cases with confirmed monogenic disease, 47 cases with de novo pathogenic copy number variations and 29 cases with de novo chromosomal abnormalities), and unknown risk group ( n=40, none of the cases underwent genetic testing). Descriptive statistical analysis was used to summarize the abnormal detection of each group. Results:There were 169 mothers with 172 fetuses finally enrolled, including two twins and one woman with two singleton pregnancies. A total of nine cases of abnormal fetuses were detected by CMA, accounting for 5.2% (9/172). Among them, eight were in the high-risk group, which were all caused by parental abnormalities, and one case in the low-risk group was detected with a de novo 22q11.22q11.23 microduplication, which was arr[GRCh37]22q11.22q11.23(22,997,928-25,002,659)×3. No abnormality was detected in the 40 patients of unknown risk group. Conclusions:Clarifying the etiology of isolated adverse pregnancy history is crucial to the rational application of CMA. Monogenic disease, unknown cause or negative finding of CMA in probands may not be an indication for prenatal diagnosis of CMA.

16.
Article in Chinese | WPRIM | ID: wpr-885574

ABSTRACT

Objective:To analyze the clinical phenotypes and prenatal diagnosis of a pedigree with oculo-facio-cardio-dental (OFCD) syndrome.Methods:A pregnant woman at 17 gestational weeks was admitted to the Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School in 2017 for genetic counseling. Genetic tests as performed for the proband (the pregnant woman), her husband, and the induced fetus of last pregnancy genetic test and the detected variants were analyzed and verified by chromosomal microarray analysis (CMA), multiplex ligation-dependent probe amplification (MLPA) and quantitative real time-polymerase chain reaction (Q-PCR). The detection platform established by MLPA and Q-PCR technology was used to perform prenatal diagnosis of the present pregnancy. Other family members were screened for BCOR gene mutation. Related mutation types were retrieved from ClinVar database with term of " BCOR", and related literature from CNKI and PubMed with terms of "OFCD syndrome", " BCOR gene", and "oculo facio cardiac dental syndrome" to summarize the clinical manifestations, mutation type and pathogenesis of this disease. Results:The proband has congenital cataracts, long face, congenital atrial septal defect, and severe dental malformations, which were consistent with the clinical features of OFCD syndrome. WES suggested that the proband and her induced fetus were suspected of having a large submicroscopic deletion of the exons of BCOR gene, which was confirmed by CMA, MLPA and Q-PCR, with a 105 kb deletion containing BCOR exons 1-15. The amniotic fluid genetic analysis of the present pregnancy showed that the fetus has a normal female karyotype, and did not carry the same BCOR gene copy number abnormality as the proband. The child grew and normally developed without any characteristic manifestations of OFCD syndrome during follow-up. Other families of the proband did not show clinical features of OFCD syndrone, and no BCOR gene copy number abnormality was detected. A total of 35 cases of BCOR gene mutation types related to OFCD syndrome were retrieved from ClinVar database. The data analysis revealed that the differences in clinical manifestations between Lenz microphthalmos syndrome and OFCD syndrome were mainly caused by different mutation types of BCOR gene. Among the 90 retrieved cases of OFCD syndrome obtained through literature, only one case was reported in China. Analysis of these 90 cases showed that the characteristic manifestations of OFCD syndrome, involving the eye, face, heart, teeth, and skeletal system. OFCD syndrome were confirmed in the proband and her induced fetus according to the clinical manifestation and the mutation type of BCOR gene. Conclusions:The clinical manifestations of OFCD syndrome are complicated, caused by various mutation types of BCOR. Systematic molecular genetic technology can be effectively applied for gene and prenatal diagnosis of OFCD syndrome.

17.
Chinese Journal of Nephrology ; (12): 209-216, 2021.
Article in Chinese | WPRIM | ID: wpr-885496

ABSTRACT

Objective:To analyze the differentally expressed long non-coding RNA (lncRNA) among mice of different ages and explore the mechanism of kidney aging.Methods:Male C57BL/6 mice aged 3-month-old ( n=5), 12-month-old ( n=5) and 24-month-old ( n=5) (each weighting about 25 g) were randomly selected. PAS staining, Masson staining and senescence associated β-galactosidase (SA-β-gal) staining were used to detect the pathology and cell senescence of mice kidney. High throughput sequencing was performed to detect the differentially expressed lncRNA and their fragments per kilobase million. Real-time quantitative PCR was used to verify the differentially expressed lncRNA. Competitive endogenous RNA (ceRNA) network, which consisted of lncRNA, miRNA and mRNA was built. GO and KEGG enrichment analysis method were used to predict the biological function of differentially expressed lncRNA. Results:PAS staining and Masson staining showed the development of kidney fibrosis, and SA-β-gal staining positive region was increased significantly as age increased. There were 938 known lncRNA and 542 novel lncRNA differentially expressed among different ages' mouse kidney. Compared with 3-month-old mice, 33 lncRNA were up-regulated and 43 lncRNA were down-regulated in 12-month-old mice. Compared with 3-month-old mice, 130 lncRNA were up-regulated and 91 lncRNA were down-regulated in 24-month-old mice. Compared with 12-month-old mice, 36 lncRNA were up-regulated and 22 lncRNA were down-regulated in 24-month-old mice. The results of qRT-PCR about verified 10 lncRNAs with larger differential expression multiples and higer expression levels were consistent with the sequencing data. GO enrichment analysis showed that the target genes of lncRNA differentially expressed in the three groups were mostly located in the nucleus and cytoplasm, and might play a role by binding to proteins or participate in various protein phosphorylation, cell cycle, transcription, transcription regulation and other processes. KEGG enrichment analysis showed that the target genes of lncRNA differentially expressed in the three group were significantly enriched in Rap1 signaling pathway, FOXO signaling pathway and MAPK signaling pathway, which were closely related to kidney aging.Conclusion:There are significant differences in expression of lncRNA among the kidney of different ages mice, which are involved in the occurrence of renal senescence.

18.
Chinese Journal of Neurology ; (12): 441-448, 2021.
Article in Chinese | WPRIM | ID: wpr-885442

ABSTRACT

Objective:To investigate the association of plasma epoxyeicosatrienoic acids (EETs) with early neurological deterioration (END), and whether EETs are mediated by EPHX2 gene variants in patients with minor ischemic stroke (MIS).Methods:This is a prospective, multi-center observational study in patients with acute MIS in the Chinese population. Acute MIS patients with the first onset and onset within 24 hours who were admitted to Deyang People′s Hospital, the Second Affiliated Hospital of Wenzhou Medical University and the Third Affiliated Hospital of Wenzhou Medical University from March 2013 to June 2015 were recruited. Plasma EETs levels were measured on admission. Single nucleotide polymorphisms of EPHX2 gene rs751141 were genotyped using mass spectrometry. The primary outcome was END within 10 days after admission. END was defined as an increase in National Institutes of Health Stroke Scale score of 2 or more points.Results:A total of 322 patients were enrolled, of which 85 (26.4%) patients experienced END. EETs levels were significantly lower in patients with END [(60.3±7.3) nmol/L] compared to patients without END [(68.4±8.1) nmol/L , t=8.464, P<0.001]. Frequency of EPHX2 gene rs751141 GG was higher in patients with END [66/85(77.6%)] than in patients without END [123/237(51.9%),χ2=17.130, P<0.001], and patients with EPHX2 gene rs751141 GG genotype showed lower EETs levels [GG: (59.6±7.8) nmol/L, AG:(67.9±8.2) nmol/L, AA:(68.8±3.2) nmol/L, F=9.285, P<0.001]. Low level (≤64.3 nmol/L) of EETs was an independent predictor of END (31.5-51.3 nmol/L group: OR=2.96,95% CI 1.18-8.77, P=0.02; 51.4-64.3 nmol/L group: OR=2.46,95% CI 1.06-6.89, P=0.03) in multivariate analyses. END was associated with a higher risk of poor outcome (modified Rankin Scale scores 3-6) at 3 months ( OR=1.82,95% CI 1.46-2.35, P=0.02). Conclusion:END is fairly common and associated with poor outcomes in acute MIS. EPHX2 gene variants may mediate EETs levels, and low levels of EETs are related to END in acute MIS.

19.
Article in Chinese | WPRIM | ID: wpr-884817

ABSTRACT

Objective:To analyze the clinical characteristics of patients suffering from acute ischemic stroke (AIS) complicated with obstructive sleep apnea-hypopnea syndrome (OSAHS).Methods:Data of patients with AIS who visited the Second Affiliated Hospital of Soochow University from January 2015 to June 2020 and underwent polysomnography monitoring (PSG) in the sleep center were collected retrospectively. Patients were divided into OSAHS group and AIS only group. Demographic information of patients, general clinical data, hematological indicators of glucose and lipid metabolism and inflammatory markers, PSG parameters and neurological function scores were collected, including the National Institutes of Health Stroke Scale (NIHSS) on admission and the modified Rankin Scale (mRS) on discharge. We compared the differences between the two groups. In addition, OSAHS group were divided into good prognosis and poor prognosis subgroups according to mRS score. The differences between the two subgroups were compared.Results:A total of 112 AIS patients combined with OSAHS and 89 AIS only patients were included. The proportion of non-rapid eye movement stages 1+2 [(N1+N2) %], arousal index, the oxygen desaturation index (ODI), percentage of total sleep time with oxygen saturation<90% (TS90) in the OSAHS group were higher than those in the AIS only group, while N3%, lowest nocturnal oxygen saturation (LSaO 2) were lower (all P<0.05). There was no statistical difference in the distribution of cerebral apoplexy lesions (cortex, subcortical, brainstem, cerebellum) between the two groups, but the proportion of patients with multifocal cerebral apoplexy in the OSAHS group was higher ( P=0.032). There was no statistical difference in NIHSS score on admission between the two groups, but the neutrophil/lymphocyte ratio (NLR) score ( P=0.004) and mRS score on discharge ( P=0.010) of the OSAHS group were significantly higher than those in the AIS only group. There were 74 patients in the good prognosis group and 38 in the poor prognosis group. The analysis showed that the NIHSS and NLR scores of the poor prognosis group were higher than the good prognosis group, admission NIHSS score was a risk factor for poor prognosis, all P<0.01. Conclusions:AIS patients complicated with OSAHS are characterized by disordered sleep structure, more severe nocturnal hypoxia, higher risk of developing multiple lesions, poor neurological function recovery at discharge, and high inflammatory index of NLR. Among them, patients with poor prognosis have poorer sleep efficiency, and high admission NIHSS score is a risk factor for poor prognosis.

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Article in Chinese | WPRIM | ID: wpr-884575

ABSTRACT

Objective:To evaluate the application value of robost optimization of brachytherapy for cervical cancer.Methods:Twenty patients who completed radical treatment were recruited in this study. The dose volume histogram (DVH) parameters were statistically compared between the conventional and robust optimization plans, and the robustness between the conventional and robust optimization plans was evaluated using DVH and DVH bands. The robust optimization method utilized the worst dose distribution to consider the dose in the presence of uncertainties. In each optimization iteration, the dose distributin when the radioactive source shifted along the X, Y, and Z directions (±2 mm), and the dose distribution when the radioactive source was not shifted were calculated. The worst dose distribution for each voxel was the lowest dose in the target and the highest dose outside the target under all circumstances. The iterative objective function was calculated by the worst dose distribution.Results:In the scenario of no shifting of radioactive source position, the mean value of robust optimization was significantly lower and that of V 150% was significantly higher than those of conventional optimization (both P<0.05). When considering the shifting of radioactive source position, the worst dosimetric parameters of multiple dose distributions were statistically compared. The mean HR-CTV D 100% values did not significantly differ between the robust and conventional optimization plans, whereas the mean D 90% value (range: 0.02-0.03 Gy) of robust optimization was significantly higher than that of conventional optimization ( P<0.05). Robust optimization increased the D 2cm 3 of the bladder and small intestine, and the rectum dose was increased with the shifting of the radioactive source position in the robust optimization. The DVH bands did not significantly differ between the conventional and robust optimization plans for all patients. Conclusions:Robust optimization based on the worst dose distribution fails to significantly improve the robustness of brachytherapy for cervical cancer. Alternative methods are required to minimize the dosimetric effect of uncertainties in brachytherapy.

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