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1.
Article in English | WPRIM | ID: wpr-879304

ABSTRACT

The polymyxins are important antimicrobial agents against antibiotic-resistant gram-negative bacilli. In 2020, the Clinical and Laboratory Standards Institute modified the clinical breakpoints for polymyxin susceptibility test by eliminating the "susceptible" interpretive category, only reporting intermediate (≤2 mg/L) and resistant (≥4 mg/L). However, the European Committee on Antimicrobial Susceptibility Testing recommended the use of clinical breakpoints of ≤2 mg/L as susceptible and >2 mg/L as resistant. The first-line laboratorians and clinicians in China have been perplexed by the inconsistence of international polymyxin clinical breakpoints and discouraged by the difficulty of conducting polymyxin susceptibility testing. Therefore, it is urgently needed to make it clear for the laboratorians in China to know how to accurately carry out polymyxin susceptibility testing and standardize the interpretation of susceptibility testing results. To this end, the experts from relevant fields were convened to formulate this consensus statement on the testing and clinical interpretation of polymyxin susceptibility. Relevant recommendations are proposed accordingly for laboratorians and clinicians to streamline their daily work.

2.
Article in Chinese | WPRIM | ID: wpr-878910

ABSTRACT

ATP-binding cassette(ABC) transporters are one of the largest protein families in organisms, with important effects in regulating plant growth and development, root morphology, transportation of secondary metabolites and resistance of stress. Environmental stress promotes the biosynthesis and accumulation of secondary metabolites, which determines the quality of medicinal plants. Therefore, how to improve the accumulation of secondary metabolites has been a hotspot in studying medicinal plants. Many studies have showed that ABC transporters are extremely related to the transportation and accumulation of secondary metabolites in plants. Recently, with the great development of genomics and transcriptomic sequencing technology, the regulatory mechanisms of ABC transporters on secondary metabolites have attached great attentions in medicinal plants. This paper reviewed the mechanisms of different groups of ABC transporters in transporting secondary metabolites through cell membranes. This paper provided key theoretical basis and technical supports in studying the mechanisms of ABC transporters in medicinal plant, and promoting the accumulation of secondary metabolites, in order to improve the quality of medicinal plants.


Subject(s)
ATP-Binding Cassette Transporters/metabolism , Biological Transport , Plant Development , Plants, Medicinal/metabolism , Stress, Physiological
3.
Chinese Journal of School Health ; (12): 645-651, 2021.
Article in Chinese | WPRIM | ID: wpr-877070

ABSTRACT

Abstract@#The health of children and adolescents is not only related to the growth and wellbeing of individuals, but also to the construction and development of countries. This study reviewed policies that were issued by the central government since the founding of New China which focused on the prevention and treatment of common diseases among school-age children and adolescents. The results revealed that, since the founding of New China, policies for the prevention and control of common diseases among school-age children and adolescents increased in number, and they began to focus on specific rather than general health problems. A gradual emphasis was placed on the specific implementation of prevention and control measures, rather than on guiding principles. Increasingly more attention has been paid to the prevention and treatment of common diseases among school-age children and adolescents.

4.
Journal of Clinical Hepatology ; (12): 955-958, 2021.
Article in Chinese | WPRIM | ID: wpr-875911

ABSTRACT

Primary biliary cholangitis (PBC) is a chronic cholestatic liver disease with unknown etiology, and patients with poor response to ursodeoxycholic acid and obeticholic acid may eventually progress to liver cirrhosis and even liver failure. Liver transplantation is the only effective treatment method for PBC at present. This article elaborates on liver transplantation, survival time after liver transplantation, complications, recurrence of PBC after liver transplantation, and prospects and challenges of liver transplantation in patients with PBC, so as to provide a reference for clinical outcome and treatment after liver transplantation for PBC.

5.
Article in Chinese | WPRIM | ID: wpr-885951

ABSTRACT

Objective:To investigate the clinical experience about the transconjunctival lower eyelid blepharoplasty with correction of the eyelid orbital sulcus deformity.Methods:This group received 67 cases from June 2016 to July 2018, including 3 males and 64 females. The average age was 22 years. All the cases were diagnosed as lower eyelid bag with different degrees of fat herniation after orbital septum, with no or slight lower eyelid skin relaxation. Orbital sulcus of different degree appeared with outline of bony orbital margin, or accompanied by underdevelopment of the suborbital region. Through a transconjunctival incision or with short external canthal incision, the adipose mass was fully exposed behind the anterior wall of lower eyelid, the arcuate edge was released, and the pedicled orbital fat was transferred to the gap between the orbital eyelid sulcus and fixed in the lower orbital margin. If there was insufficient fat behind the orbital septum, a retroauricular fascia graft was used to make up.Results:No postoperative complications occured in all cases. After followed up for more than 3-month, 3 of 67 cases showed mild fat bulging pouch deformity in bilateral eyelids and 1 case was in unilateral eyelid. In other cases, deformity of the pouch and the eyelid orbital sulcus were improved significantly, and dynamic expression (orbicularis muscle contraction) showed no local uplift in lower eyelid morphology.Conclusion:The transconjunctival lower eyelid blepharoplasty with correction of the eyelid orbital sulcus deformity can obtain good clinical results in lower eyelid area.

6.
Article in Chinese | WPRIM | ID: wpr-885527

ABSTRACT

Objective:To analyze the applicability and feasibility of a cell-free DNA barcode-enabled single-molecule test (cfBEST) in non-invasive prenatal diagnosis of phenylketonuria.Methods:This study recruited four pregnant women who were prenatally diagnosed as heterozygous carriers of hot spot mutations in the PAH gene from pedigrees with phenylketonuria at the First Affiliated Hospital of Zhengzhou University from July to September 2019. The frequency of mutations in maternal plasma cell-free DNA and the fetuses' genotypes were analyzed by cfBEST. Nested polymerase chain reaction primers were designed to amplify the mutation sites in each pedigree. The results of cfBEST were compared with those of invasive prenatal diagnosis. Descriptive analysis was used for data analysis. Results:In pedigree 1, the frequency of c.603T>G and c.842+2T>A mutations in maternal plasma cell-free DNA were 48.40% (291/601) and 9.70% (61/628), which was detected by cfBEST. The fetus was diagnosed with phenylketonuria with two heterozygous mutations. In pedigree 2, the frequency of c.1238G>C and c.842+2T>A mutations in maternal plasma cell-free DNA was 43.70% (786/1 798) and 0% (0/1 550), respectively. Both mutations were wild-type, and the fetus was neither phenylketonuria nor a carrier. In pedigree 3, the frequency of c.1045T>G and c.728G>A mutations in maternal plasma cell-free DNA was 44.00% (930/2 112) and 0% (0/705), respectively, suggesting that both mutations in the fetus were wild-type, and the fetus was neither phenylketonuria nor a carrier. In pedigree 4, the frequency of c.755G>A and c.728G>A mutations were 45.40% (743/1 637) and 4.50% (28/849), respectively, which indicated that the former was wild-type, and the latter was heterozygous; namely the fetus was a carrier of phenylketonuria. The results of cfBEST were consistent with those of invasive prenatal diagnosis. Three pedigrees (Pedigree 2, 3 and 4) continued the pregnancy to full-term, and the phenylalanine levels in the neonates were all below 120 μmol/L. No abnormalities were reported in those three infants during follow-ups at one, three, and six months after birth.Conclusions:The cfBEST could be used for non-invasive prenatal diagnosis of phenylketonuria caused by PAH gene mutation, but further studies with a larger sample size are needed.

7.
Article in Chinese | WPRIM | ID: wpr-885156

ABSTRACT

Objective:To investigate the predictive value of myoglobin (Mb) for the prognosis of sepsis related chronic critical illness (CCI).Methods:Retrospective study was conducted on septic patients with the length of ICU stay equal or greater than 14 days, and sepsis-related organ failure assessment (SOFA) score equal or greater than 2 on the 14th day in ICU in the First Department of Critical Care Medicine at the First Affiliated Hospital of Sun Yat-sen University from January 2017 to March 2020. Patients′ clinical and laboratory data were collected on the 1st and 14th day in ICU. The survival on day 28 in ICU was recorded. According to the myoglobin levels on day 1 and day 14, all subjects were divided into myoglobin elevation group and decline group. Kaplan-Meier survival curve was used to compare the cumulative survival rate at day 28. Cox regression analysis was used to analyze the independent risk factors of mortality. Receiver operating characteristic (ROC) curve was used to analyze the prognostic value of myoglobin.Results:A total of 131 patients with sepsis related CCI were recruited, including 58 patients in the elevation group and 73 in the decline group. The Mb level in elevation group on day 1 was significantly lower than that in decline group [172.40(59.99, 430.53) μg/L vs. 413.60(184.40, 1 328.50) μg/L, Z=3.749, P=0.000], and the Mb level on day 14 was the opposite change in two groups [483.65(230.38, 1 471.75)μg/L in elevation group vs. 132.20(76.86, 274.35)μg/L in decline group, Z=5.595, P=0.000]. Kaplan-Meier survival curve analysis showed that the 28-day cumulative survival rate of the elevation group was significantly lower than that of decline group (χ2=7.051, P=0.008). Cox ratio regression analysis suggested that elevated myoglobin was an independent risk factor for 28-day mortality in septic patients with CCI ( OR=2.534, 95% CI 1.212-5.295, P=0.013). ROC curve analysis suggested that the sensitivity of myoglobin elevation in predicting mortality related to CCI within 28 days was 64.5%, and the specificity was 32.0% with area under the curve(AUC) 0.661(95% CI 0.550-0.773, P=0.007) and Jorden Index was 0.325. Conclusion:Elevated myoglobin, an independent risk factor for mortality within 28 days in ICU, can predict the prognosis of sepsis related chronic critical illness.

8.
Chinese Journal of Geriatrics ; (12): 315-318, 2021.
Article in Chinese | WPRIM | ID: wpr-884887

ABSTRACT

Objective:To investigate the relationship between the degree of basilar artery stenosis and the short-term prognosis in patients with isolated pontine infarction.Methods:One hundred and thirty-seven patients with isolated pontine infarction within 1 month after symptom onset admitted to our hospital from April 2016 to April 2018 were consecutively included.Based on modified Rankin scale(mRS)socres, patients were divided into the good outcome group(mRS score≤2)and the poor outcome group(mRS score>2). Venous blood samples were taken for biochemical testing on admission or the next day.Baseline National Institutes of Health Stroke Scale(NIHSS)scores and demographic data were recorded and compared between the two groups.The degree of basilar artery stenosis was assessed by magnetic resonance angiography(MRA), and subjects were divided into the non-stenosis, mild stenosis, middle stenosis and severe stenosis subgroups.Results:There were 108 patients in the good outcome group and 29 in the poor outcome group.The baseline NIHSS score(2.71±0.22 vs.7.10±0.59, t=6.99, P<0.01)and total cholesterol[(4.29±0.101)mmol/L vs.(4.76±0.17)mmol/L, t=2.21, P=0.03]were lower in the good outcome group than in the poor outcome group.The proportion of patients without stenosis was higher(76 or 70.4% vs.5 or 17.2%, χ2=26.70, P<0.01)and the proportion of patients with severe stenosis were lower(4 or 3.7% vs.7 or 24.1%, P=0.002)in the good outcome group than in the poor outcome group.Binary logistics regression analysis showed that baseline NIHSS score( OR=1.658, 95% CI: 1.327-2.071, P=0.000)and degree of basilar artery stenosis( OR=2.071, 95% CI: 1.159-3.701, P=0.014)were risk factors for the short-term prognosis. Conclusions:The degree of basilar artery stenosis is a risk factor for the short-term prognosis in patients with isolated pontine infarction, and patients with severer stenosis will have a poorer prognosis.

9.
Chinese Journal of Orthopaedics ; (12): 103-108, 2021.
Article in Chinese | WPRIM | ID: wpr-884693

ABSTRACT

Objective:To investigate the relationship between the location of anterior cruciate ligament rupture (ACL) and the areas of bone bruises in patients with an acute ACL injury.Methods:A retrospective study was conducted on MRI of patients with ACL injuries from January to June 2019. According to the location of the ACL rupture on the distal to proximal length, the patients were divided into 5 groups, namely Type I, >90%; Type II, 75%-90%; Type III, 25%-75%; Type IV, 10%-25%, Type V, <10%. Gender, weight, body mass index, depth of lateral femoral condyle notch, and medial meniscus injury were compared among the five groups. The sagittal plane images of ePDWSPIRCLEAR sequence were selected to define the layer with the largest contusion areas of femur and tibia respectively. The maximum bone contusion areas of these two layers was measured using Image J 1.52t software.Results:Among the 63 cases of acute ACL injury, three cases (4.8%) were with type I tear, 14 cases (22.2%) with type II tear, 40 cases (63.5%) with type III tear, 2 cases (3.2%) with type IV tear, and 4 cases (6.3%) with Type V tear. There was no contusion of lateral femoral condyle or lateral tibial plateau bone in type I and type IV. The lateral femoral condyle bone contusion areas was 0 (0, 64.12) mm 2 in type II, 182.34 (86.58, 334.38) mm 2 in Type III, 38.64(0, 193.36) mm 2 in Type V with statistically significant difference ( H=21.665, P=0.000). The largest areas of bone contusion in the lateral tibial plateau was 76.78(28.25, 205.57) mm 2 in type II, 120.93(51.78, 239.37) mm 2 in Type III, 190.51(80.86, 238.75) mm 2 in Type V with statistically significant difference ( H=11.939, P=0.018). The maximum bone contused areas of the lateral tibial plateau in the medial meniscus injury group was 48.0(0, 105.97) mm 2, which was smaller than that in the non-injury group 185.67(54.36, 257.41) mm 2 ( H=8.848, P=0.003). The maximum bone contusion areas of the lateral femoral condyle in the injured group was 162.19(63.03, 301.33) mm 2, which was greater than 0(0, 103.37) mm 2 in the uninjured group ( H=11.554, P=0.001). Conclusion:ACL rupture often occurs in the middle segment. The middle segment ACL fracture combined with lateral meniscus injury had with the highest probability and with the largest area of bone contusion of lateral femoral condyle. The fracture of the ACL at the farthest terminal has the largest bone contusion areas of the lateral tibial plateau and with the lowest probability of combined injury of the medial meniscus.

10.
Article in Chinese | WPRIM | ID: wpr-883183

ABSTRACT

Objective:To investigate the therapeutic effect and signaling pathway of ginsenoside Rb1 on myocardial injury in mice with Kawasaki disease.Methods:BALB/C mice aged 5-6 weeks were randomly divided into control group, model group, aspirin group, ginsenoside Rb1 low dose group(50 mg/kg) and high dose group(100 mg/kg), with 12 mice in each group.Except the control group, other groups were treated with intermittent intraperitoneal injection of 10% bovine serum albumin saline solution to induce Kawasaki disease myocardial injury pathological model with a total of 6 days(twice a day); aspirin group, Rb1 low and high-dose group were given corresponding drugs by gavage for 20 days after modeling.The pathological changes of myocardial tissue were observed by hematoxylin eosin staining.The levels of tumor necrosis factor-α(TNF-α), interleukin-1β(IL-1β), interleukin-6(IL-6) and cardiac troponin I(cTnI) in serum and myocardial tissue were detected by ELISA.The activities of creatine kinase(CK), creatine kinase isoenzyme(CK-MB), lactate dehydrogenase(LDH), α-hydroxybutyrate dehydrogenase(α-HBDH) and aspartate aminotransferase(AST) in serum were detected by enzyme coupling method.The expression levels of janus kinase 2/signal transducer and activator of transcription 3(JAK2/STAT3) signaling pathway related proteins in myocardial tissue were detected by Western blot.Results:High dose of Rb1 significantly improved myocardial fiber rupture and tear, inflammatory infiltration and necrosis induced by myocardial injury in model group.ELISA results showed that, compared with the model group, high-dose Rb1 could significantly inhibit the high expression of tumor necrosis factor-α, interleukin-1β, interleukin-6, which were restored to the level of the control group, and there was a dose-dependent relationship between the low and high-dose groups( P<0.05). The results of enzyme coupling method showed that creatine kinase, creatine kinase isoenzyme-MB, lactate dehydrogenase, α-hydroxybutyrate dehydrogenase, and aspartate aminotrasferase in Rb1 high-dose group were restored to the level in control group, and there was a dose-dependent relationship between low and high-dose group( P<0.05). At the same time, compared with model group, Rb1 high-dose group significantly down regulated the expression level of cardiac troponin I( P<0.05). Western blot results showed that, compared with the model group, Rb1 significantly increased the relative expression levels of p-JAK2/JAK2, p-STAT3/STAT3 and B-cell lymphoma-2(Bcl-2)/β-actin, and significantly decreased the expression levels of Cleaved caspase-3/β-actin in a dose-dependent manner( P<0.05). Conclusion:Ginsenoside Rb1 can effectively reduce the myocardial injury induced by Kawasaki disease mice.The high-dose group of Rb1 can recover to the level of the control group, and the curative effect is related to the dosage of Rb1.Ginsenoside Rb1 may activate JAK2/STAT3/Bcl-2 signaling pathway, thus down regulate the expression of Cleaved caspase-3, and inhibit cardiomyocyte apoptosis and inflammation.

11.
Article in Chinese | WPRIM | ID: wpr-883083

ABSTRACT

Objective:To explore the optimal postpartum nursing intervention method of elderly second-birth parturient based on the best evidence and evaluate its effect so as to improve the quality of clinical nursing.Methods:Based on the best evidence obtained from the previous study, the optimal nursing examination index of the elderly second parturient was established, and the evidence of best practice was obtained by using the evidence-based nursing method, and the 2017 revised version (the third edition of) Johns Hopkins evidence-based nursing practice model) was used to guide nurses to apply the evidence to clinical practice. During the period from March to May 2019, the baseline review was completed, including 82 pregnant women and 43 nurses. The evidence was incorporated into clinical practice in June 2019. From July to October 2019, the same indicators and inclusion and exclusion criteria were used to evaluate the effectiveness of evidence application in 43 nurses (including midwives) and 85 elderly second-child parturients in obstetric wards (including baby-friendly areas). The anxiety, depression, maternal satisfaction and nurses' correct implementation rate of the best evidence were compared before and after the application of evidence.Results:After the use of evidence-based intervention, the implementation rate of nurses was above 80%. The anxiety score of parturient decreased from 55.29±10.11 to 41.74±10.35, the difference was statistically significant ( t value was 8.55, P<0.001), and the depression score decreased from 57.77 ±8.32 to 47.86 ±9.33, the difference was statistically significant ( t value was 7.23, P<0.001). Maternal satisfaction increased from 92.68% (76/82) to 98.82% (84/85), the difference was statistically significant ( χ2 value was 3.92, P< 0.05). Conclusion:The result of practice shows that through evidence-based nursing intervention, we can further standardize the postpartum optimal nursing paradigm of elderly second-child parturients in China. Reduce postpartum anxiety and depression and improve maternal satisfaction. And quality review still needs to be continuously promoted and implemented in clinical practice in order to continuously improve the quality of nursing and ensure sustainability.

12.
Article in Chinese | WPRIM | ID: wpr-882814

ABSTRACT

Objective:To explore the feasibility and precautions of laparoscopic pyeloplasty for children with hydronephrosis combined with renal trauma.Methods:The clinical data of 6 cases with hydronephrosis and renal trauma admitted to the Department of Pediatric Surgery, the First Affiliated Hospital of Zhengzhou University from August 2016 to August 2019, aged from 5 to 11 years old (average age 7 years old) were reviewed.These patients had suffered renal trauma for 1 to 4 days.All patients had the symptoms of pain in the affected kidney, and 4 patients had hematuria.The renal pelvis diameter of all patients was more than 25 mm.The patients underwent laparoscopic pyeloplasty and renal rupture repairment, with the ureteral stent, perirenal drainage tube and catheter placed inside the body during the operation.Results:All operations were completed successfully without any blood transfusion and open surgery.Intrao-perative time was from 2.5 to 3.5 hours.Two cases had renal parenchymal contusion in the front lower pole of kidneys and 4 cases in the lateral lower pole.Five cases had renal cortex and pelvis rupture, and 1 case had renal cortical fracture and subcapsular hematoncus.After the operation, the perinephric drainage tube was pulled out in 3 to 5 days, the catheter was pulled out in 7 to 10 days, and the ureteral stent was removed in 6 to 8 weeks.All children recovered well and hydronephrosis was ameliorated.The glomerular filtration rates and fractional renal function were all improved.Conclusions:One stage laparoscopic pyeloplasty is safe and effective for the treatment of hydronephrosis with renal trauma in children.Renal trauma in children usually occurs at the lower pole of the kidney.Early operation is needed if hydronephrosis is aggravated and symptoms are not relieved after the trauma.Intraoperative impairment of renal parenchymal rupture can be conducted.For intraoperative bleeding in grade 3 renal injury, renal parenchyma suturation and removal of necrotic renal tissue should be adopted to arrest bleeding.

13.
Chinese Journal of School Health ; (12): 850-852, 2021.
Article in Chinese | WPRIM | ID: wpr-881271

ABSTRACT

Objective@#To explore the effect of orienteering exercises on the improvement of children s executive function, and to explore the relationship between executive function and orienteering intervention to provide theoretical support.@*Methods@#Forty children from the fourth grade of Zhonghai the First Experimental Primary School in Changchun City were selected as the experimental subjects, 20 as the experimental group (10 males, 10 females) and 20 as the control group (10 males, 10 females). The functional changes of executive function subfunctions (inhibitory function, conversion function, refresh function) before and after orienteering exercises intervention were measured by More odd shifting, 1 back and Flanker.@*Results@#After intervention, the inhibitory function, conversion function and refresh function were significantly decreased in the experimental group (10.29±15.99, 295.19±189.76, 642.85±220.78)ms compared with before intervention (25.62±10.18, 616.04±287.92, 1 051.25±275.00)ms (F=12.52, 20.76, 20.89, P<0.01), while there was no significant change in the control group (P>0.05). In this study, neither gender main effect nor interaction between sex × group, sex × time and sex × time × group were found (P>0.05).@*Conclusion@#Orienteering exercises can significantly improve children s executive function, which are not vaired by sex.

14.
Article in English | WPRIM | ID: wpr-881071

ABSTRACT

Jie-Geng-Tang (JGT), a traditional formula, is employed in the treatment of sore throat and cough and comprises Platycodonis Radix and Glycyrrhizae Radix et Rhizoma in the ratio 1 : 2. Our previous study demonstrated that JGT protected mice from S. aureus-induced acute lung injury (ALI). Five constituents of JGT showed antibacterial activities against S. aureus in vitro. However, the potential effective constituents of JGT in vivo were still unclear. In this study, the chemical constituents of JGT were identified by liquid chromatography with quadrupole time-of-flight spectrometry (LC-Q-TOF-MS). A total of 96 constituents were identified or assumed, including seven organic acids, 45 flavonoids, 36 triterpene saponins, and eight compounds of other types. The structures of 31 of the constituents were confirmed by comparing them with corresponding authentic standards. Moreover, 15 prototypes and 49 metabolites were deduced in the serums of mice, 24 prototypes and 47 metabolites were deduced in the lungs of mice after the oral administration of JGT. Three types of constituents, namely organic acids, flavonoids, and triterpene saponins, could be absorbed into the blood. Moreover, flavonoids and triterpene saponins were more likely distributed in the lung than in the blood. To the best of our knowledge, this is the first report on the systematic metabolites profile of JGT in vivo. The results reported were beneficial to the elucidation of the effective material basis of JGT.

15.
Article in English | WPRIM | ID: wpr-880333

ABSTRACT

BACKGROUND@#Numerous studies have concentrated on high-dose radiation exposed accidentally or through therapy, and few involve low-dose occupational exposure, to investigate the correlation between low-dose ionizing radiation and changing hematological parameters among medical workers.@*METHODS@#Using a prospective cohort study design, we collected health examination reports and personal dose monitoring data from medical workers and used Poisson regression and restricted cubic spline models to assess the correlation between changing hematological parameters and cumulative radiation dose and determine the dose-response relationship.@*RESULTS@#We observed that changing platelet of 1265 medical workers followed up was statistically different among the cumulative dose groups (P = 0.010). Although the linear trend tested was not statistically significant (P@*CONCLUSION@#We concluded that although the exposure dose was below the limit, medical workers exposed to low-dose ionizing radiation for a short period of time might have increased first and then decreased platelets, and there was a dose-response relationship between the cumulative radiation dose and platelets changing.


Subject(s)
Adult , Aged , Blood Platelets/radiation effects , Female , Health Personnel/statistics & numerical data , Humans , Male , Middle Aged , Occupational Exposure/adverse effects , Prospective Studies , Radiation Dosage , Radiation Exposure/adverse effects , Radiation, Ionizing , Young Adult
16.
Article in Chinese | WPRIM | ID: wpr-879597

ABSTRACT

OBJECTIVE@#To carry out genetic testing and prenatal diagnosis for 29 Chinese pedigrees affected with tuberous sclerosis complex (TSC) and assess efficacy of combined next generation sequencing (NGS) and multiple ligation-dependent probe amplification (MLPA) for the diagnosis.@*METHODS@#NGS and MLPA were used in conjunct to detect variants of TSC1 and TSC2 genes among the probands of the pedigrees. Paternity test was carried out to exclude maternal DNA contamination. Prenatal diagnosis was provided to 14 couples based on the discoveries in the probands.@*RESULTS@#Twenty-seven variants were identified in the TSC1 and TSC2 genes among the 29 pedigrees, which yielded a detection rate of 93.1%. Respectively, 5 (18.5%) and 22 (81.5%) variants were identified in the TSC1 and TSC2 genes. Twelve variants were unreported previously. Prenatal diagnosis showed that five fetuses were affected with TSC, whilst the remaining nine were unaffected.@*CONCLUSION@#Above finding has expanded the spectrum of TSC1 and TSC2 gene variants. Combined NGS and MLPA has enabled diagnosis of TSC with efficiency and accuracy.


Subject(s)
DNA Mutational Analysis , Female , Genetic Testing , Humans , Mutation , Pregnancy , Prenatal Diagnosis , Tuberous Sclerosis/genetics , Tuberous Sclerosis Complex 1 Protein/genetics , Tuberous Sclerosis Complex 2 Protein/genetics
17.
Chinese Medical Journal ; (24): 2808-2815, 2020.
Article in English | WPRIM | ID: wpr-877936

ABSTRACT

BACKGROUND@#Lipid abnormalities are prevalent among people living with human immunodeficiency virus (HIV) (PLWH) and contribute to increasing risk of cardiovascular events. This study aims to investigate the incidence of dyslipidemia and its risk factors in PLWH after receiving different first-line free antiretroviral regimens.@*METHODS@#PLWH who sought care at the Third People's Hospital of Shenzhen from January 2014 to December 2018 were included, and the baseline characteristics and clinical data during the follow-up were collected, including total cholesterol (TC), triglyceride (TG), low-density lipoprotein cholesterol (LDL-C) and high-density lipoprotein cholesterol (HDL-C). The risk factors of dyslipidemia after antiretroviral therapy were analyzed with the generalized estimating equation model.@*RESULTS@#Among the 7623 PLWH included, the mean levels of TC, HDL-C and LDL-C were 4.23 ± 0.85 mmol/L, 1.27 ± 0.29 mmol/L and 2.54 ± 0.65 mmol/L, respectively, and the median TG was 1.17 (IQR: 0.85-1.68) mmol/L. Compared with that in PLWH receiving tenofovir disoproxil fumarate (TDF) + lamivudine (3TC) + ritonavir-boosted lopinavir (LPV/r), zidovudine (AZT) + 3TC + efavirenz (EFV), and AZT + 3TC + LPV/r, the incidence of dyslipidemia was lower in PLWH receiving TDF + 3TC + EFV. In multivariate analysis, we found that the risks of elevations of TG, TC, and LDL-C were higher with TDF + 3TC + LPV/r (TG: odds ratio [OR] = 2.82, 95% confidence interval [CI]: 2.55-3.11, P < 0.001; TC: OR = 1.24, 95% CI: 1.14-1.35, P < 0.001; LDL: OR = 1.06, 95% CI: 1.00-1.12, P = 0.041), AZT + 3TC + EFV (TG: OR = 1.41, 95% CI: 1.28-1.55, P < 0.001; TC: OR = 1.43, 95% CI: 1.31-1.56, P < 0.001; LDL: OR = 1.18, 95% CI: 1.12-1.25, P < 0.001), and AZT + 3TC + LPV/r (TG: OR = 3.08, 95% CI: 2.65-3.59, P < 0.001; TC: OR = 2.40, 95% CI: 1.96-2.94, P < 0.001; LDL: OR = 1.52, 95% CI: 1.37-1.69, P < 0.001) than with TDF + 3TC + EFV, while treatment with TDF + 3TC + LPV/r was less likely to restore HDL-C levels compared with TDF + 3TC + EFV (OR = 0.95, 95% CI: 0.92-0.97, P < 0.001). In addition to antiretroviral regimens, antiretroviral therapy duration, older age, overweight, obesity and other traditional factors were also important risk factors for dyslipidemia.@*CONCLUSION@#The incidence of dyslipidemia varies with different antiretroviral regimens, with TDF + 3TC + EFV having lower risk for dyslipidemia than the other first-line free antiretroviral regimens in China.


Subject(s)
Aged , Anti-HIV Agents/adverse effects , China/epidemiology , Dyslipidemias/epidemiology , HIV , HIV Infections/drug therapy , Humans , Lamivudine/therapeutic use , Lipids , Risk Factors
18.
Chinese Medical Journal ; (24): 198-204, 2020.
Article in English | WPRIM | ID: wpr-781622

ABSTRACT

BACKGROUND@#Previously, dihydroceramide (d18:0/24:0) (dhCer (d18:0/24:0)) was reported to be a potential biomarker for acute-on-chronic liver failure (ACLF) prognosis. In this study, we further explored the role of dhCer (d18:0/24:0) in the progression of ACLF to validate the biomarker using ACLF rat model.@*METHODS@#ACLF rats were sacrificed at 4 and 8 h post-D-galactosamine (D-gal)/lipopolysaccharide (LPS) administration to investigate the liver biochemical markers, prothrombin time and liver histopathology. Change in dhCer and other sphingolipids levels were investigated by high-performance liquid chromatography coupled to tandem mass spectrometry (HPLC-MS/MS). Rats were treated with N-(4-hydroxyphenyl) retinamide (4-HPR) to examine the mortality rate and its role in improving ACLF.@*RESULTS@#LPS/D-gal administration resulted in significant elevation in alanine aminotransferase (ALT) and aspartate aminotransferase (AST) levels. Prothrombin time was prolonged and histopathological examination showed abnormality. HPLC-MS/MS results showed total dhCer levels in ACLF group (64.10 ± 8.90 pmol/100 μL, 64.22 ± 6.78 pmol/100 μL for 4 and 8 h, respectively) were decreased significantly compared with control group (121.61 ± 23.09 pmol/100 μL) (P < 0.05). In particular, dhCer (d18:0/24:0), dhCer (d18:0/20:0), and dhCer (d18:0/22:0) levels were decreased. Treatment with 4-HPR significantly increased the levels of dhCers, including dhCer (d18:0/24:0) compared with ACLF group, for the level of dhCer (d18:0/24:0) in 4-HPR group was 20.10 ± 8.60 pmol/100 μL and the level of dhCer (d18:0/24:0) in ACLF group was 9.74 ± 2.99 pmol/100 μL (P < 0.05). This was associated with reduced mortality rate and prolonged survival time. The ALT and AST in 4-HPR group were significantly decreased compared with ACLF group. The prothrombin time of 4-HPR group (41.49 s) was significantly lower than the prothrombin time of ACLF group (57.96 s) (P < 0.05). 4-HPR also decreased plasma ammonia levels slightly, as the plasma ammonia levels in 4-HPR group and ACLF group were 207.37 ± 60.43, 209.15 ± 60.43 μmol/L, respectively. Further, 4-HPR treatment improved histopathological parameters.@*CONCLUSIONS@#DhCer, especially dhCer (d18:0/24:0), is involved in the progression of ACLF. Increasing the levels of dhCer can reduce the mortality rate of ACLF rats and alleviate liver injury.

19.
Article in Chinese | WPRIM | ID: wpr-781288

ABSTRACT

OBJECTIVE@#To detect genetic variants among 7 pedigrees affected with ornithine transcarbamylase deficiency (OTCD) and provide prenatal diagnosis for them.@*METHODS@#The pedigrees were subjected to targeted next-generation sequencing (NGS) with a gene panel for inherited metabolic diseases. Suspected pathological variants were confirmed by Sanger sequencing of the probands and their family members. Prenatal diagnosis was provided for 4 of the pedigrees.@*RESULTS@#Seven variants of the OTC gene, including c.583G>A (p.Gly195Arg), c.626C>T (p.Ala209Val), c.674C>T(p.Pro225Leu), c.482A>G (p.Asn161Ser), IVS1-2A>G, c.116G>T(p.Gly39Val), c.898delT(p.300Phefs*22), were detected, among which IVS1-2A>G, c.116G>A (p.Gly39Val) and c.898delT (p.300Phefs*22) were unreported previously. Three male fetuses were found to carry hemizygotic variants upon prenatal diagnosis. One female fetus were found to be heterozygous for a variant, and appeared to be normal at birth as well as by newborn screening.@*CONCLUSION@#OTC gene variant is the etiology of OTCD in the 7 pedigrees. Genetic testing of OTC could assist physicians in OTCD diagnosis and provide genetic counseling and prenatal diagnosis for the pedigrees.

20.
Article in English | WPRIM | ID: wpr-829018

ABSTRACT

Objective@#To explore the association between soil selenium levels and the risk of diabetes in Chinese adults aged 35-74 years.@*Methods@#Data for this study were derived from the China Chronic Diseases and Behavioral Risk Factors Surveillance 2010 survey. Selenium concentrations in soil were obtained from the Atlas of Soil Environmental Background Values in China. A two-level binary logistic regression model was used to determine the association between soil selenium concentrations and the risk of diabetes, with participants nested within districts/counties.@*Results@#A total of 69,332 participants aged 35-74 years, from 158 districts/counties were included in the analysis. Concentrations of selenium in soil varied greatly across the 158 districts/counties, with a median concentration of 0.219 mg/kg ( : 0.185-0.248). The results showed that both Quartile 1 (0.119-0.185 mg/kg) and Quartile 4 (0.249-0.344 mg/kg) groups were positively associated with diabetes compared to a soil selenium concentration of 0.186-0.219 mg/kg (Quartile 2), crude odds ratios ( s) (95% ) were 1.227 (1.003-1.502) and 1.280 (1.048-1.563). The values were 0.045 and 0.013, for Quartile 1 and Quartile 4 groups, respectively. After adjusting for all confounding factors of interest, the Quartile 1 group became non-significant, and the Quartile 4 group had an adjusted (95% ) of 1.203 (1.018-1.421) relative to the reference group (Quartile 2), the values was 0.030. No significant results were seen for the Quartile 3 group (0.220-0.248 mg/kg) compared to the reference group.@*Conclusion@#Excessive selenium concentrations in soil could increase the risk of diabetes among Chinese adults aged 35-74 years.


Subject(s)
Adult , Aged , China , Epidemiology , Diabetes Mellitus , Epidemiology , Diet , Female , Humans , Logistic Models , Male , Middle Aged , Odds Ratio , Risk Factors , Selenium , Metabolism , Soil , Chemistry
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