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OBJECTIVE@#To identify pathogenic variants in two patients with suspected for Mowat-Wilson syndrome (MWS).@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the patients and his family members, and gene variants were analysis by Trio-whole exome sequences and copy number variation sequencing.@*RESULTS@#Patient 1 was found to carried a de novo heterozygous c.2769C>A (p.Y923*) nonsense variant of ZEB2 gene. The variant was not found in his healthy parents and sister. Patient 2 carried a de novo heterozygous frameshift variant of the ZEB2 gene, namely c.315delC (p.A105Afs*3), which has not been previously reported. Both variants were predicted to be pathogenic and can lead to premature occurrence of stop codons.@*CONCLUSION@#The heterozygous c.2769C>A (p.Y923*) and c.315delC (p.A105Afs*3) variants of the ZEB2 gene probably underlay the pathogenesis in the two patients. Gene testing has facilitated confirmation of the diagnosis and genetic counselling.
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Humans , DNA Copy Number Variations , Facies , Hirschsprung Disease , Intellectual Disability/genetics , Microcephaly/genetics , Zinc Finger E-box Binding Homeobox 2/geneticsABSTRACT
Objective:The study was aimed to investigate the bone mineral density (BMD) status of newly diagnosed systemic lupus erythematous (SLE) patients.Methods:Newly diagnosed SLE patients and healthy controls in Peking University Third Hospital from 2014 to 2018 were enrolled into this cross-sectional study. Medical records including systemic lupus erythematosus disease activity index (SLEDAI)-2000 and BMD of the lumbar vertebrae and hips measured by dual-energy X-ray absorptiometry were collected. Patients were divided into normal and low BMD groups. Parameters were compared by Student- t test, Mann-Whitney U test and χ 2 test. Results:Eighty-nine patients and 20 healthy controls were included. Approximately 52.8% of the SLE patients had low BMD. Compared to the healthy control group, the BMD of lumbar spine and hip was obviously lower than in the newly diagnosed SLE group[(0.97±0.14) g/cm 2, (1.08±0.10) g/cm 2, t=3.548, P<0.01; (0.88±0.15) g/cm 2, (1.00±0.08) g/cm 2, t=3.878, P<0.01]. The BMD of lumbar spine and hip in the low BMD group was lower than that in the normal BMD group [(0.88±0.10) g/cm 2, (0.80±0.11) g/cm 2; (1.07±0.11) g/cm 2, (0.97±0.13) g/cm 2, respectively]. Compared with the normal BMD group, the body mass index (BMI) was significantly lower [(19.2±2.0) kg/m 2, (23.2±3.6) kg/m 2 respectively, t=3.678, P<0.01], the disease duration was longer [(45.7±7.7) weeks, (16.0±19.5) weeks, respectively, t=-3.306, P<0.01). Patients with low BMD tended to have lower 25-hydroxy-vitamin-D(25-OH-VD 3) level and higher bone metabolism marker levels (Degradation products of collagen B) [(9±5) nmol/L vs (12±7) nmol/L, t=1.385, P>0.05; 0.62(0.21, 1.61) ng/ml vs 0.43(0.19, 0.88) ng/ml, Z=0.624, P>0.05], although their differences didn't reach the statistical significant difference. Conclusion:Newly diagnosed SLE patients' BMD is lower than the healthy people. About 52.8% newly diagnosed untreated SLE patients have low BMD. Lower BMI and longer disease duration are their clinical characteristics. High bone metabolism marker levels, low 25-hydroxy-vitamin-D level might have clinical significance, although the current findings do not find statistically significant difference. Large sample size is required for subsequent research analysis.
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Objective To explore the application of mixed anesthesia with epinephrine hydrochloride and lidocaine in se-nile ptosis surgery.Methods 90 senile ptosis cases(180 eyes)treated from January 2016 to June 2016 were randomly divided into experimental group and control group.Subcutaneous infiltration anesthesia with lidocaine and epinephrine hydrochloride was used in the experimental group,while the control group received lidocaine only.The heart rate,blood pressure,blood loss,visual field definition,operation time,incision state,cornea and recovery rate of the two groups were observed.Results① The systolic blood pressure of the patients in the experimental group was significantly higher than that of the control group (P<0.05).There was no significant difference between two groups in diastolic blood pressure and heart rate(P>0.05).②The experimental group achieved better results than the control group in operation time,anesthesia time,amount of bleeding, visual field clarity,eyelid congestion and wound healing(P<0.05);③ There was no significant difference(P> 0.05)be-tween two groups in incisional dressing bleeding,fluid seepage and cornea status.Conclusion The mixed anesthesia of epi-nephrine hydrochloride and lidocaine had little effect on the patients' diastolic blood pressure and heart rate.It reduced the blood loss during operation and the postoperative eyelid congestion.The clarity of intraoperative vision and recovery time were also improved with the mixed anesthesia.
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Objective To evaluate the feasibility of the posterior C2 pedicle screw placement (C2 PSP) by MPR techniques of helical CT.Methods Totally 250 patients (500 sides) who underwent head and neck CTA examination were enrolled.The bony parameters and the arterial parameters were measured after MPR.The bony parameters included pedicle diameter (D),isthmus height (T),internal height (H),and the arterial parameters included medial shifting:lateral (L),neutral (N),medial (M);and the degree of riding included below (b),within (w),above (a).The prevalence of narrow pedicles,high-riding vertebral arteries (HRVA) and the subtypes of IAVA in the general population were calculated,and the statistical analysis between narrow pedicles,HRVA,IAVA and C2 vertebral arteries groove (C2 VAG) injury were performed.Results The rate of narrow pedicles and HRVA were 14.40％ (72/500) and 24.60％ (123/500;x2=141.984,P＜0.001).When it came to the simulation of the C2 PSP inserting,the incidence of C2 VAG injuries was 19.40％ (97/500).In narrow pedicle and HRVA patients,the C2 VAG injuries incidence were higher than that of without narrow pedicle and HRVA patients (both P＜0.001).In 58 sides (58/500,11.60 ％),the narrow pedicles and HRVA occurred simultaneously.There were statistical significance differences of narrow pedicles and HRVA and the C2 VAG injuries in different types of IAVA (all P＜0.001),the subtypes of IAVA M-a consisted most common,which account for 55.56％ (40/72),46.34％ (57/123) and 48.45％ (47/97),respectively.Conclusion Most of the C2 VAG injuries happened in narrow pedicles,HRVA or IAVA M-a type patients.MPR can be used to comprehensively evaluate osseous and arterial parameters,which will provide anatomy foundation to the screw placement of C2 pedicles.
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Objective To observe the effect of bandage contact lens on cornea epithelial healing after Epi-LASIK,and to evaluate the efficacy and safety.Methods Prospective case-control study.The 92 cases(181 eyes) performing Epi-LASIK were devided into observation group and control group.The 46 cases(91 eyes) of the control group were covered with routine nursing and the other 46 cases (90 eyes) of the observation group were served with bandage contact lens after Epi-LASIK.The symptoms and signs,time of corneal epithelial recovery,visual acuity and pain of postoperation of the two groups were examined within one week.Results After Epi-LASIK treatment,there was no significant difference in visual acuity between the two groups(P ＞ 0.05).At the 1 st,3rd,and 7th day after Epi-LASIK treatment,the ache grading results of the observation group were (2.53 ± 0.62),(1.39 ± 0.71),(0.07-± 0.25);and the ache grading results of control group were (3.22 ± 0.79),(1.74 ± 0.49),(0.26 ± 0.49).Pain scores of observation group were significantly lighter than that of the control group (P ＜ 0.05).After Epi-LASIK treatment,the average time of corneal wound healing in the observation group and control group were (2.80 ±0.86) days and (4.07 ±0.68) days respectively.The average time of postoperative corneal wound healing in the observation group was shorter than control group(P ＜ 0.05).Conclusion The application of bandage contact lens on cornea epithelial healing after Epi-LASIK treatment can reduce the pain of patients and promote the recovery of cornea in myopia patients.
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To investigate the effect of ultrasound-guided percutaneous injection of cinobufotalin or anhydrous ethanol in the treatment of portal vein tumor thrombus (PVTT) through a comparative analysis. MethodsA total of 56 patients with PVTT after liver cancer surgery, who were admitted to the 94th Hospital of PLA from October 2009 to December 2011, were enrolled. Among these patients, 27 underwent ultrasound-guided percutaneous injection of cinobufotalin (cinobufotalin group) and 29 underwent ultrasound-guided percutaneous injection of anhydrous ethanol (anhydrous ethanol group). The clinical outcome and survival time were compared between the two groups after treatment, and the levels of total bilirubin (TBil), alanine aminotransferase (ALT), and aspartate aminotransferase (AST) before and after treatment were compared. The t-test was used for comparison of continuous data between groups, the chi-square test was used for comparison of categorical data between groups, the rank sum test was used for comparison of ranked data, and the Kaplan-Meier method was used for survival analysis. ResultsThe response rate showed no significant difference between the cinobufotalin group and the anhydrous ethanol group (63.0% vs 58.6%, χ2=0.111, P＞0.05). After treatment, the cinobufotalin group had significantly lower levels of TBil, ALT, and AST than the anhydrous ethanol group (t=2.24, 2.40, and 2.39, all P＜0.05). The 6-month, 1-year, and 2-year survival rates showed no significant differences between the cinobufotalin group and the anhydrous ethanol group (81.5%/63.0%/29.6% vs 82.8%/586%/31.0%, χ2=0.016, 0.111, and 0.013, all P＞0.05). ConclusionUltrasound-guided percutaneous injection of cinobufagin or anhydrous ethanol has similar short- and long-term effects in the treatment of PVTT and can inhibit the growth of tumor thrombus and prolong survival time, but cinobufagin is superior to anhydrous ethanol in the aspect of protecting liver function.
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Objective To analyze the prevalence and clinical features of cytomegalovirus (CMV)infection in patients with systemic lupus erythematosus (SLE).Methods Patients with SLE in Peking University Third Hospital from 2013 to 2015 and age and sex matched healthy controls were enrolled.All patients were detected for CMV antibody,CMV DNA and CMV PP65 in the blood.The prevalence of CMV infection and the clinical characteristics were analyzed using Chi-square test.Results Altogether 349 SLE patients and 209 healthy controls were enrolled.In SLE group,the positive rate of CMV IgG was 90.3％ (315/349),which was similar to that of the control group,while the positive rate of CMV IgM was 8.0％ (28/349),which wassignificantly higher than controls 1.4％(3/209) (x2=10.811,P=0.001),and the active CMV infection rate was 69.1％(241/349).Those in the active phase of SLE were more likely to have active CMV infection when compared with those in remission [75.4％(93/256) vs 51.6％(48/93),x2=18.049,P＜0.01].The percentage [43.2％(104/241)] of severe patients in those with active CMV infection was much higher than that in those without CMV infection 9.2％(10/108) (x2=38.953,P＜0.01).Those SLE patients had active CMV infection were clinically more severe and the most common clinical manifestation were proteinuria/hemoturia,cytopenia and fever.Conclusion In SLE patients,the positive rate of CMV IgM is significantly higher than healthy control and the prevalence of active CMV infection is high,especially in those at active disease.Those with active CMV infection are clinically more severe but have no features of active CMV infection,which indicates that the CMV infection might be a trigger of SLE activity.
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Objective To investigate the clinical and radiographic features of rheumatoid arthritis (RA) patients with cervical subluxations.Methods The clinical, laboratory and imaging data of 68 RA patients who were hospitalized to our hospital because of cervical syndrome were retrospectively reviewed.The patients were divided into two groups depend based on whether cervical spine subluxations presented or not.Mann-Whitney U test, t test and Person correlation, x2 test were used for statistical analysis.Results This study confirmed the high frequency (11.6％, 39/335) of radiological cervical subluxations in RA patients.The nNeck pain was a common symptom, accounting for 87％ (34/39).Other symptoms included limb numbness 59％ (23/39).The rate of positive C-reactive protein (CRP) in the subluxation group was both significantly higher than that of the non-subluxation group [89％(24/27) vs 59％(16/27),x2=6.17, P＜0.01].Anterior atlantoaxial subluxation (AAS) was the most common form, accounting for 95％(37/39) of all cervical subluxations,followed by vertical subluxation (VS), accounting for 18％ (7/39).Subaxial subluxation (SAS) of the lower cervical vertebrae was less common (5.1％).The ratio of bone destruction, spinal stenosis, spinal cord compression in image findings of the subluxation group was significantly higher than that of the non-subluxation group (x2=7.96, x2=6.12, x2=4.89, P＜0.05).But more hyperostosis and osteosclerosis feature of the non-subluxation group could be observed more hyperostosis and osteosclerosis feature (x2=6.21, P＜0.05).PADI correlated with ADI (r=-0.588, P=0.015).Conclusion This study confirms the high frequency of radiological cervical involvement in patients with RA.AAS is the most common form of cervical involvement and may occur either independently or concomitantly with cranial settling and subaxial subluxation.
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Objective:To identify the factors that affect the duration of forced eruption of the impacted maxillary canines.Methods:Data of 46 successfully treated impacted maxillary canines with forced eruption were included.The relation of duration of forced eruption and the age of the patients(y),the distance between the impacted maxillary canine cusp tip and the occlusal plane(d),the angle be-tween the axis of the impacted maxillary canine and the occlusal plane(α),mesiodistal position of the canine cusp tip in relation to the adjacent teeth(ZB),the angle between the canine axis and the lateral incisor axis(β)was analyzed.Results:The results indicated a direct correlation of the duration of forced eruption with the patient age and d value,the more mesial location of the canine cusp tip to the midline,the longer treatment time was needed.In contrast,there was an inverse correlation between the duration of forced eruption and αvalue.Conclusion:The patient's age and the position of the impacted maxillary canines are the important predictors of the dura-tion of the forced eruption.
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DNA double-strand break (DSB) is the most severe form of DNA damage, which is repaired mainly through high-fidelity homologous recombination (HR) or error-prone non-homologous end joining (NHEJ). Defects in the DNA damage response lead to genomic instability and ultimately predispose organs to cancer. Nicotinamide phosphoribosyltransferase (Nampt), which is involved in nicotinamide adenine dinucleotide metabolism, is overexpressed in a variety of tumors. In this report, we found that Nampt physically associated with CtIP and DNA-PKcs/Ku80, which are key factors in HR and NHEJ, respectively. Depletion of Nampt by small interfering RNA (siRNA) led to defective NHEJ-mediated DSB repair and enhanced HR-mediated repair. Furthermore, the inhibition of Nampt expression promoted proliferation of cancer cells and normal human fibroblasts and decreased β-galactosidase staining, indicating a delay in the onset of cellular senescence in normal human fibroblasts. Taken together, our results suggest that Nampt is a suppressor of HR-mediated DSB repair and an enhancer of NHEJ-mediated DSB repair, contributing to the acceleration of cellular senescence.
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Humans , Antigen-Antibody Complex , Metabolism , Antigens, Nuclear , Genetics , Metabolism , Carrier Proteins , Genetics , Metabolism , Cell Line , Cell Proliferation , Cellular Senescence , DNA Breaks, Double-Stranded , DNA End-Joining Repair , DNA Repair , DNA-Activated Protein Kinase , Genetics , Metabolism , DNA-Binding Proteins , Genetics , Metabolism , Fibroblasts , Cell Biology , HeLa Cells , Homologous Recombination , Genetics , Physiology , Ku Autoantigen , Nicotinamide Phosphoribosyltransferase , Genetics , Metabolism , Physiology , Nuclear Proteins , Genetics , Metabolism , RNA, Small Interfering , Genetics , beta-Galactosidase , MetabolismABSTRACT
Objective To study the function of the important members of MMPs in breast cancer and their correlation with lymph nodes metastasis through making groups according to vascular thrombosis status showed by pathological diagnosis and detecting the expression of MMP-2,-9,-13,-14 in order.Methods Fluorescent quantitative RT-PCR was used to detect mRNA expression of MMP-2,-9,-13,-14 in 30 cases of breast cancer patients in both groups (negative and positive vascular thrombosis groups).Streptavidin-peroxidase methods (S-P) immunohistochemical method was employed to detect the expression of ER,PR,HER2,P53 and Ki-67 in breast cancer tissues.The data were analyzed by t test etc.Results Lymph nodes metastasis was significantly more in vascular thrombosis positive group than in negative group(P ＜ 0.05 ).MMP-2 and -13 were overexpressed in vascular thrombosis negative group (P ＜ 0.05).Conclusions Breast cancer patients with positive vascular thrombosis have a more apparent trend of lymph nodes metastasis.MMP-2 and MMP-13 mRNA play a negative regulatory role in intravasation of tumor cells by producing substances that may inhibit tumor angiogenesis and intravasation.
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Objective To analyze the efficacy of the combination of MALDI-TOF and immunoadsorption to detect new biomarkers for lupus. Methods Twenty lupus patients at active stage (SLE group), 10 SLE patients in remission (SLE control group), 10 RA patients and 10 PSS patients (other rheumatic disease control group) and 20 healthy volunteers (healthy control group) were enrolled. The serum samples before and after immunoadsorption from SLE group and those from the control groups were co-incubated with activated chitosan copper derivative nano material. The adsorbed nano material was spotted onto the matrix used in MALDI-TOF for analysis by the Axima-CFR plus MALDI-TOF mass spectrometer. T-test was used for statistical analysis. Results MALDI-TOF MS screening showed that three potential protein biomarkers of mass-to-charge (m/z) ratio 3136, 3264, 3326 were found to be very specific for lupus patients: All of them were expressed before immunoadsorption in high quantity and none of them could be detected both after immunoadsorption and in all the three control groups. None of them (<10 000) were in the molecular weight range of the biomarkers used nowadays such as auto antibodies and complement (>50 000). Conclusion The combination of MALDI-TOF and immunoadsorption is effective in the detection of new serum protein biomarkers for lupus and it may be helpful in the screening of SLE patients at active stage from healthy people.
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0.05).However,LVEF before revascularization had significant influence on mortality(P=0.004,95%CI=0.893~0.978).Conclusion The strategy of incomplete revascularization by percutaneous coronary intervention(PCI) did not show inferiority in terms of mortality compared with complete revascularization by PCI or CABG in patients with three-vessel disease while the level of pre-operational LVEF had significant influence on the mortality rate.
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Objective To investigate the effect of rAAV2 VEGF 165 (recombinant adeno associated Virus 2 vector encoding VEGF 165 cDNA) in stimulating angiogenesis, its dose effect relationship in swine acute coronary occlusion model, and to search for a suitable dose for further investigation in swine myocardium ischemia model Methods Ligation of LAD (left anterior descending coronary artery) was performed in swine modles via mini thoracotomy rAAV2 VEGF 165 (experimental group) or phosphate buffer saline (control group) was injected around the infarcted region The experimental group was divided into four subgroups: according to the amount of virus genome, which were: 1?10 11 v g (virus genome), 5?10 11 v g, 1?10 12 v g and 5?10 12 v g Animals underwent angiographic evaluation of collateral development four weeks after the operation Expression of VEGF was assessed by semiquantitative RT PCR and immunohistochemical staining Results Four weeks after the operation, expression of VEGF was detected in all the four experimental subgroups and the level of expression was higher than that of the control group Capillary density was higher in both of the 1?10 12 v g and 5?10 12 v g subgroups, compared with the control Coronary angiography demonstrated higher collateral index to the occluded LAD in the groups of 5?10 11 v g,1?10 12 v g and 5?10 12 v g than that of the control Conclusion Direct injection of rAAV2 VEGF 165 can achieve effective expression of VEGF in swine acute ischemic myocardium At certain dosage, rAAV2 VEGF 165 can promote generation of blood ressels in swine acute ischemic myocardium and 1? 10 12 v g is a more suitable dosage for swine myocardium ischemia model