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Objective:To investigate the incidence rate and gene variation of methylmalonic academia (MMA) in Ji′nan city by analyzing biochemical and genetic screening results, and to explore the carrier frequency of MMA-related pathogenic genes in the population in Ji′nan.Methods:The children diagnosed with MMA by tandem mass spectrometry screening in Ji′nan Neonatal Disease Screening Centre from May 2011 to May 2022 were enrolled in this study.Their genetic test results were retrospectively analyzed and summarized.The dried heel blood tablets collected from 6 800 newborns were tested for neonatal gene screening. MMAA, MMAB, MMACHC and MMUT genes in 4 800 cases were detected by high-throughput sequencing+ target area capture technology.Ultra-multiplex polymerase chain reaction+ target gene locus capture technology was used to detect 174 target loci of 8 genes related to MMA in 2 000 cases.The hotspot mutation and related gene carrier rate of MMA were analyzed. Results:A total of 367 452 newborns were screened by tandem mass spectrometry, and 103 cases (56 males and 47 females) were diagnosed with MMA by screening.The estimated incidence of MMA was 1∶3 567.Among the 103 MMA cases, 76 were genetically diagnosed, and 4 gene variants of MMA ( MMAHC, MMUT, MMAA, MMADHC) were identified.A total of 6 800 neonates underwent neonatal genetic screening.Three of them were diagnosed with MMA.About 318 infants carried pathogenic variants of MMA, with a total carrier rate of 4.68%.Specifically, the carrier rates of MMACHC and MMUT gene variants were 3.09%(210/6 800) and 1.43% (97/6 800), respectively. Conclusions:MMA is the most common organic acid metabolism disorder in our country.The incidence and carrier rate of this disease are high in Jinan city.Neonatal genetic screening is an important supplement to neonatal biochemical screening.Carrier screening for MMA-related pathogenic genes is recommended for couples of childbearing age in Jinan.
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Objective:To study the clinical effects of Yishen-Shengxue Decoction on the prevention and treatment of bone marrow suppression in acute myeloid leukemia after chemotherapy. Methods:A total of 60 patients in Beijing Longfu Hospital from June 2018 to March 2020 were randomly divided into control group and observation group, 30 cases in each group. The control group was treated with western medicine and blood transfusion, while the observation group was treated with Yishen-Shengxue Decoction on the basis of the control group. Both groups were treated for 2 weeks. We recorded the occurrence time and duration of Ⅳ degree myelosuppression of the two groups, compared the score of symptoms and signs, injection volume of recombinant human granulocyte colony stimulating factor (G-CSF) and blood transfusion volume, and recorded the incidence of adverse reactions after chemotherapy. Results:The occurrence of myelosuppression in the observation group was significantly later than that of the control group (5.07 ± 0.87 d vs. 3.83 ± 1.15 d; t=4.695, P<0.01), and the duration of grade Ⅳ myelosuppression was significantly shorter than that of the control group (7.20 ± 0.76 d vs. 10.03 ± 1.30 d; t=10.305, P<0.01); The quantity of granulocyte colony stimulating factor injection in the observation group was significantly less than that of the control group (7.2 ± 0.8 vs. 10.0 ± 1.3, t=10.305), and the quantity of red blood cell suspension (2.5 ± 1.5 U vs. 4.7 ± 1.5 U, t=7.749) and platelet transfusion (1.7 ± 0.5 U vs. 3.1 ± 0.9 U, t=5.879) were significantly less than that of the control group ( P<0.01); the quantitative score of symptoms and signs in the observation group were significantly lower than thoseof the control group ( t values were 18.208, 15.129, respectively, all Ps<0.01). The adverse reactions of the patients in the observation group after chemotherapy were significantly less than those of the control group, and the incidence of infection, bleeding and ECG abnormalities were statistically significant ( χ2 values were 7.500, 10.000, 4.286, respectively, all Ps<0.01). Conclusion:Yishen-Shengxue Decoction is helpful to delay the occurrence of myelosuppression, and promote its recovery, reduce various adverse reactions during myelosuppression, and improve the quality of life.
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Objective To explore the predictive value of Tei index and plasma brain natriuretic peptide(BNP) on major adverse cardiovascular events(MACE) during long term follow up in the patients with anteriormyocardial infarction(MI).Methods A total of 238 patients with anterior MI were selected and divided into four groups according to the median of Tei index and BNP:G1 group(Tei≤0.66,BNP≤532.60 ng/mL,n=70),G2 group(Tei≤0.66,BNP＞532.60 ng/mL,n=51),G3 group(Tei＞0.66,BNP≤532.60 ng/mL,n=50) and G4 group(Tei＞0.66,BNP＞532.60 ng/mL,n=67).The follow up end was the MACE occurrence.Results There was a significant positive correlation between the Tei index and BNP(r=0.582,P=0.000).Tei entered the BNP regression equation(β=0.658,P＜0.05).The MACE-free survival rate had no statistical difference among 4 groups(x2 =9.975,P=0.019).The Cox regression analysis showed that Tei index and BNP were the independent predictive factors for MACE.Tei combined with BNP had stronger predictive value to MACE(AUC=0.781,95CI:0.721-0.841,P=0.000),its sensitivity was 72.52％ and specificity was 76.89％.Conclusion Tei combined with BNP has stronger predictive value for anterior MI during long term follow up.
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Objective To evaluate the effects of goal-directed fluid therapy on the tissue perfusion of elderly patients undergoing Laparoscopic Radical Cystectomy.Methods Thirty patients aged 60-82 years with ASA physical status Ⅰ or Ⅱ who were presenting for elective laparoscopic radical cystectomy were randomly divided into routine fluid replacement group (group C,n=15) and GDFT group (group G,n=15).Patients in group C received routine fluid replacement.Patients in group G were treated under goal-directed fluid infusion strategy with a target of SVV≤13%,CI≥2.5 L·min-1·m-2 and ScvO2≥73% under the monitoring of PiCCO.The indexes of hemodynamics and tissue perfusion were collected and recorded at 7 time points: before induction of anesthesia (T1),5 minutes after intubation (T2),5 minutes after pneumoperitoneum and change positions (T3),1 hour after pneumoperitoneum (T4),5 minutes after the abdomen was opened (T5),1 hour after the abdomen was opened (T6) and the end of surgery (T7).Results Compared with group C,group G received less fluid.MAP and SVV between two groups were no statistical significance.The CI in group G in time point T4,T6 and T7 was significantly higher than that in group C (P<0.05).The HR in group G in time point T5 and T6 was significantly higher than that in group C (P<0.05).The aLac in group G in time point T4 and T5 was significantly lower than that in group C (P<0.05).Pcv-aCO2,DO2I and O2ERe between the two groups were not statistically different.Postoperative rehabilitation indexes between the two groups were not statistically significant.Conclusion The GDFT guided under SVV,CI and ScvO2 can keep the effective circulatory volume and pressure to ensure the whole body perfusion,reduce aLac and improve microcirculation without affecting the balance of oxygen supply and demand and the postoperative complication.
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Objective Determination of polysaccharide content in dried peel seeding watermelon, and its mechanism of lowering blood glucose.Methods The content of polysaccharides in dried peel of seeding watermelon was determined by the method of phenol-sulfuric acid.Mice were given starch and sucrose load,and the mouse blood glucose was examined.The inhibitory activities of seeding watermelon against α-glucosidase were tested by the colorimetry of pNPG.Results The calibration of polysaccharide was A=0.066 4 C+0.022 6, R2=0.999 5, the content of polysaccharide in dried peel of seeding watermelon was 4.45% (n=10,RSD=1.80%);50,100 and 150 mg·kg-1 of polysaccharide could significantly reduce the starch load in mice blood glucose(P<0.01);100 and 150 mg·kg-1 of polysaccharide significantly reduced sucrose load blood glucose(P<0.01);polysaccharide concentration in 18 mg·mL-1 could significantly inhibit the activity of α-glucosidase as the inhibitory rate was (73.19±3.45)% (n=10).Conclusion Seeding watermelon polysaccharide has effect on lowering blood glucose in starch and sucrose load mice, and inhibits α-glucosidase significantly.
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Objective To investigate labial and lingual alveolar bone plate thickness of the mandibular anterior teeth by using cone-beam computed tomography (CBCT),in order to provide a reference for immediate implantation.Methods 132 individuals with normal occlusion were examined with CBCT,and their mandibular anterior teeth were analyzed.The labial and lingual alveolar bone plate thickness at the level of the apical,1/4 of the apical,1/2 of the middle and 1/4 of the cervical were measured.The differences of the thickness were compared among the side and gender.Results There were no significant differences between the left and right sides. Except on the 1/4 of the cervical,the thickness of lingual bone plate was thicker than that of labial bone plate.The frequency of the thickness of the labial bone larger than 2 mm on the 1/4 of the cervical of the center incisor,lateral incisor,and canine were 0,0 and 1.5 1%,respectively,and on 1/4 of the middle were 0.76%,1.44% and 3.79%,respectively.The lingual bone plate thickness showed significant difference between genders.Conclusion Reference values of alveolar bone plate thickness in anterior teeth of normal occlusion were established by using CBCT,which can provide clinical instruction for immediate implant.
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Objective: To study the relationship between insulin resistance (IR) and coronary collateral circulation in patients with impaired glucose tolerance (IGT). Methods: A total of 227 patients with coronary angiography (CAG) were studied. There were 131 patients with male gender and the average patient’s age was (53.2 ± 11.0) years. IR (HOMA2-IR) index was measured by HOMA2 method, the severity level of coronary stenosis was assessed by Gensini scoring system, collateral circulation condition was determined by Rentrop classiifcation. 187 IGT patients were divided into 4 groups: Rentrop 0 group,n=55, Rentrop 1 group,n=42, Rentrop 2 group,n=39 and Rentrop 3 group,n=51; in addition, Control group,n=40 patients with normal glucose tolerance and coronary stenosis<50%. Results: Compared with Control group, all patients in 4 Rentrop groups had increased 2h-PBG, HbA1c, HOMA2-IR and Gensini score, while decreased fasting insulin (FINS), allP<0.05. Compared with Rentrop 3 group and Rentrop 2 group, the patients in Rentrop 1 group and Rentrop 0 group had elevated 2h-PBG, HbA1c, HOMA2-IR and Gensini score, while Rentrop 0 group had reduced FINS, allP<0.05. Multivariable regression analysis showed that HOMA2-IR index (R=0.518,P<0.05), HbA1c (R=1.916, P<0.05), 2h-PBG (R=2.130,P<0.05) and FINS (R=1.547,P<0.05) might be related to the severity of coronary stenosis. Binary regression analysis indicated that poor collateral circulation (the patients in Rentrop 0 group and Rentrop 1 group) was related to HOMA2-IR index (OR=1.679, 95% CI 1.101-2.558,P=0.016). Conclusion: HOMA2-IR index could be signiifcantly higher in patients with IGT combining chronic coronary occlusion. IR was the independent risk factor for the severity of coronary stenosis and coronary collateral formation.
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Objective To investigate cognitive functions in first-episode schizophrenia and unaffected first-degree relatives of different patients.Methods A total of 52 patients with first-episode schizophrenia (patient group),48 unaffected first-degree relatives of different patients (relatives group) and 50 healthy normal controls (control group) was recruited in the study.The attention,memory,and executive functions of all the subjects were assessed by a battery of neuropsychological tests,including cancellation test (CT),trail making test (TMT),digit span (DS),visual reproduction (VR),verbal fluency task (VFK),Wisconsin card sorting test (WCST) and HANOI tower.Results There were statistically significant difference among three groups in net scores of CT,TMTA,TMT-B,backward and total scores of DS,scores of VR,VFK,total errors and perseverate errors of WCST and all indicators of HANOI Tower (P ＜0.05 or P ＜ 0.01).Post Hoc multiple comparisons showed that,compared with the control group,the patient group had worse scores in all tests above except TMT-A in the relatives group (P ＜0.05 orP ＜0.01).However,compared with the patient group,the relatives group had better scores in net scores of CT,TMT-A,TMT-B,scores of VR,VFK,total errors and perseverate errors of WCST (P ＜ 0.05 or P ＜ 0.01).Conclusions Patients with first-episode schizophrenia have global cognitive functions deficits.Unaffected first-degree relatives of different patients also have cognitive deficits to a certain extent.Our study indicates that cognitive functions deficits may be viewed as a biomarker for candidates reflecting genetic liability for schizophrenia.
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ObjectiveTo monitor the treatment effect of acute leukemia by multiparmeter flow cytomtry(MPFC), MethodsThe patientswith acute leukemia all achieved complete remission after remission induction therapy.Before the chemotherapy,the bone marrow cell morphology and MPFC inspection were used for each patient. Through statistical analysis, the relationship between morphological feature andrecurrence,as well as time duration till recurrence were obersved. ResultsThe 122 specimens from 30 patients were observed.The specimens were analyzed by morphological examination of bone marrow cells,and the other 61 specimen through MPFC. There were 8 positive specimen(13.11％)through morphological examination,while 18 positive specimen(29.51％ )through MPFC. There was a significant difference between the two groupes by x2 test (x2=4.33,P＜0.05).The 18 MPFC-positive specimens were from 10 patients.In the follow-up period, there were 6 patients whose morphological examination also prompted the recurrence in 1-4 months. Three patients were failed to follow up because of 2 patients became negative and 1 patient died. ConclusionMPFC is more sensitive and able to assess the effect of acute leukemia treatment more objectively and detect the recurrence earlier than morphological examination.
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Objective To explore the significance of NK cell activity,interleukin-2 receptors (sCD25) and glycosylated ferritin in the early diagnostic of acquired hemophagocytic lymphohistiocytosis (HLH).Methods 57 patients suspected of HLH from June 2005 to May 2008 and 25 healthy subjects were enrolled in the study.The patients suspected of HLH were divided into three groups i.e.(1) a group with diagnosis confirmed at first visit;(2) a group with diagnosis confirmed at subsequent visit and (3) a group with diagnosis unconfirmed according to HLH-2004 diagnostic criteria.Healthy subjects were enrolled as control.NK cell activity was determined with a released LDH assay.The percentage of glycosylated ferritin was determined with phytohemagglutinin adsorption assay,sCD25 was examined with ELISA double antibody sandwich assay.We compared the coincidence of each diagnostic index before and after diagnosis.Results The median percentage of NK cell activity was significantly lower in the first group ( 18.3±5.6) % and the second ( 16.7±6.7)% than that in the third group (33.4±6.8)% or in the controls (36.6±5.0)%.The median percentage of glycosylated ferritin was also significantly lower in the first group ( 15,4 ± 2.0)% and the second group (16.9 ± 3.4)% than that in the third group (40.4 ± 3.0)% or in the controls (45.2±2.2)%.Meanwhile,the median level of sCD25 was significantly higher in the first group (12 916±4328) ng/L and the second group (12 117 ± 5465) ng/L than that in the third group (4728±1482) ng/L or in the controls (3841 ± 993) ng/L.Furthermore,NK cell activity,sCD25 and glycosylated ferritin were abnormal in all the patients in the early stage of HLH.Conclusion NK cell activity,sCD25 and glycosylated ferritin may be helpful markers for the early diagnosis of HLH.
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Objeetive To analyze the attenuation differences of left yentricular myocardium on 64-slice CT coronary artery angiography in adults.Methods of 1130 consecutive patients,119 patients (65 males,54 females,ranged from 27 to 83 years with mean age of 52 years)with no stenosis or stenosis less than 25% in the left anterior descending arteries were enrolled.The standard axial image with 3mm slice thickness just below the aorta valve was selected for measttrement.The regions of interest(0.1 cm× 0.1 cm)in posterior interventricular septum(septal P),anterior interventricular septum(septal A),apex,anterior free wall and posterior free wall of the left ventricle were selected within the myocardium and the mean CT value wag measured.A paired Student t test was used for the comparison of CT values in different areas,P value under 0.05 was considered statistically significant.Results The megn attenuafion of the apical region(69.9±15.5)HU was lower than that of septal A(91.9±15.1)HU(t=11.060,P＜0.01)and anterior free wall(79.7±16.9)HU(t=4.639,P＜0.01),the mean attenuation in septal(93.8±14.8)HU and posterior free wall(88.0±14.3)HU showed relatively higher values.The myocardial intensity attenuation presented as a U-shape in the left ventricular myoeardium. Conclusions The mean attenuation in the left ventrieular myoeardium demonstrates as U-shape during the coronary artery angiography examination in normal adults.This can be helpful for iudging the extent of myocardial infarctiotr.