Clinical Value of Translocator Protein Gene in Evaluating the Efficacy of FLT3-ITD/DNMT3A R882 Double-Mutated Acute Myeloid Leukemia / 中国实验血液学杂志

OBJECTIVE@#To observe the clinical significance of translocator proteins (TSPO) gene in the treatment of FLT3-ITD/DNMT3A R882 double-mutated acute myeloid leukemia (AML).@*METHODS@#Seventy-six patients with AML hospitalized in the Department of Hematology of the Affiliated People's Hospital of Ningbo University from June 2018 to June 2020 were selected, including 34 patients with FLT3-ITD mutation, 27 patients with DNMT3A R882 mutation, 15 patients with FLT3-ITD/DNMT3A R882 double mutation, as well as 19 patients with immune thrombocytopenia (ITP) hospitalized during the same period as control group. RNA was routinely extracted from 3 ml bone marrow retained during bone puncture, and TSPO gene expression was detected by transcriptome sequencing (using 2-deltadeltaCt calculation).@*RESULTS@#The expression of TSPO gene in FLT3-ITD group and DNMT3A R882 group at first diagnosis was 2.02±1.04 and 1.85±0.76, respectively, which were both higher than 1.00±0.06 in control group, but the differences were not statistically significant (P=0.671, P=0.821). The expression of TSPO gene in the FLT3-ITD/DNMT3A R882 group was 3.98±1.07, wich was significantly higher than that in the FLT3-ITD group and DNMT3A R882 group, the differences were statistically significant (P=0.032, P=0.021). The expression of TSPO gene in patients who achieved complete response after chemotherapy in the FLT3-ITD/DNMT3A R882 group was 1.19±0.87, which was significantly lower than that at first diagnosis, and the difference was statistically significant (P=0.011).@*CONCLUSION@#TSPO gene may be used as an indicator of efficacy in FLT3-ITD /DNMT3A R882 double-mutated AML.

Clinical characteristics of 16 patients with nucleotide excision repair disorders and literature review / 中华实用儿科临床杂志

Objective:To summarize the clinical manifestations and gene mutation features of patients with nucleotide excision repair (NER) disorders.Methods:A retrospective analysis was made on clinical data of patients with NER disorders who were admitted to the Chinese People′s Liberation Army General Hospital from October 2008 to February 2022 and diagnosed in the Outpatient Department of Beijing Children′s Hospital, Capital Medical University from October 2015 to February 2022.Literature on previously reported Chinese patients with NER disorders was reviewed.Results:(1)A total of 16 patients with NER disorders were enrolled, including 6 males and 10 females.The onset age was 7.5 (4.0, 12.0) months and the age at diagnosis was 42.0 (21.5, 77.0) months.There were 3 types of NER disorders: Cockayne syndrome (CS) in 13 cases, Xeroderma Pigmentosum (XP) in 2 cases and Cerebro-Oculo-Facio-Skeletal syndrome (COFS) in 1 case.Four disease-causing genes were detected: CSA gene in 11 cases, CSB gene in 3 cases, XPG gene in 1 case, and XPD gene in 1 case.The first symptoms of the 16 patients were photosensitivity and developmental delay, and neurological symptoms were observed in all the 3 NER disorder types.XP and CS patients had skin symptoms.CS patients presented typical facial features, visual and auditory impairment, microcephaly and changes in neuroimaging features.COFS patients showed intrauterine growth retardation.(2)Results of literature review: a total of 96 Chinese patients reported were retrieved, involving 6 disease types, including CS in 45 cases, XP in 44 cases, trichothiodystrophy in 4 cases, COFS in 1 case, XP-CS in 1 case, and ultraviolet sensitive syndrome in 1 case.Nine mutated genes were identified: CSA in 33 cases, XPA in 15 cases, CSB in 13 cases, XPV in 10 cases, XPC in 9 cases, XPG in 7 cases, XPD in 7 cases, XPF in 1 case, and MPLKIP in 1 case.The common symptoms were growth failure (62 cases), skin photosensitivity (61 cases), typical facial features (52 cases), mental retardation (49 cases) and microcephaly (48 cases). Among 36 cases had imaging data 33 cases(91.7%)had calcification of basal nucleus or globus pallidus.Three cases had intrauterine growth retardation and microcephaly during pregnancy. Conclusions:Patients with such prenatal manifestations as intrauterine growth retardation and microcephaly or with typical symptoms like skin photosensitivity, typical facial features, growth failure, mental retardation, hypertonia, and calcifications of basal ganglia should be suspected of NER disorders.Early genetic testing is recommended to confirm the diagnosis.

Effect and influence factors of cardiopulmonary resuscitation in children with congenital heart disease in pediatric intensive care unit / 中华儿科杂志

Objective: To investigate the prognostic factors of children with congenital heart disease (CHD) who had undergone cardiopulmonary resuscitation (CPR) in pediatric intensive care unit (PICU) in China. Methods: From November 2017 to October 2018, this retrospective multi-center study was conducted in 11 hospitals in China. It contained data from 281 cases who had undergone CPR and all of the subjects were divided into CHD group and non-CHD group. The general condition, duration of CPR, epinephrine doses during resuscitation, recovery of spontaneous circulation (ROSC), discharge survival rate and pediatric cerebral performance category in viable children at discharge were compared. According to whether malignant arrhythmia is the direct cause of cardiopulmonary arrest or not, children in CHD and non-CHD groups were divided into 2 subgroups: arrhythmia and non-arrhythmia, and the ROSC and survival rate to discharge were compared. Data in both groups were analyzed by t-test, chi-square analysis or ANOVA, and logistic regression were used to analyze the prognostic factors for ROSC and survival to discharge after cardiac arrest (CA). Results: The incidence of CA in PICU was 3.2% (372/11 588), and the implementation rate of CPR was 75.5% (281/372). There were 144 males and 137 females with median age of 32.8 (5.6, 42.7) months in all 281 CPA cases who received CPR. CHD group had 56 cases while non-CHD had 225 cases, with the percentage of 19.9% (56/281) and 80.1% (225/281) respectively. The proportion of female in CHD group was 60.7% (34/56) which was higher than that in non-CHD group (45.8%, 103/225) (χ2=4.00, P=0.045). There were no differences in ROSC and rate of survival to discharge between the two groups (P>0.05). The ROSC rate of children with arthythmid in CHD group was 70.0% (28/40), higher than 6/16 for non-arrhythmic children (χ2=5.06, P=0.024). At discharge, the pediatric cerebral performance category scores (1-3 scores) of CHD and non-CHD child were 50.9% (26/51) and 44.9% (92/205) respectively. Logistic regression analysis indicated that the independent prognostic factors of ROSC and survival to discharge in children with CHD were CPR duration (odds ratio (OR)=0.95, 0.97; 95%CI: 0.92~0.97, 0.95~0.99; both P<0.05) and epinephrine dosage (OR=0.87 and 0.79, 95%CI: 0.76-1.00 and 0.69-0.89, respectively; both P<0.05). Conclusions: There is no difference between CHD and non-CHD children in ROSC and survival rate of survival to discharge was low. The epinephrine dosage and the duration of CPR are related to the ROSC and survival to discharge of children with CHD.

Prognostic differences of catestatin among young and elderly patients with acute myocardial infarction / 世界急诊医学杂志（英文）

@#BACKGROUND: Previous studies have reported inconsistent findings regarding the association between catestatin and outcomes of acute myocardial infarction (AMI). This study aims to investigate the prognostic value of catestatin for long-term outcomes in patients with AMI. METHODS: One hundred and sixty-five patients with AMI were enrolled in this series. The plasma catestatin levels at baseline and clinical data were collected. All patients were followed up for four years to investigate whether there were major adverse cardiovascular events (MACEs), including cardiovascular death, recurrent AMI, rehospitalization for heart failure, and revascularization. RESULTS: There were 24 patients who had MACEs during the follow-up period. The MACEs group had significantly lower plasma catestatin levels (0.74±0.49 ng/mL vs. 1.10±0.79 ng/mL, P=0.033) and were older (59.0±11.4 years old vs. 53.2±12.8 years old, P=0.036). The rate of MACEs was significantly higher in the elderly group (≥60 years old) than in the young group (<60 years old) (23.8% [15/63] vs. 8.8% [9/102], P=0.008). The catestatin level was significantly lower in the MACEs group than that in the non-MACEs group (0.76±0.50 ng/mL vs. 1.31±0.77 ng/mL, P=0.012), and catestatin was significantly associated with MACEs (Kaplan Meier, P=0.007) among the elderly group, but not in the young group (Kaplan Meier, P=0.893). In the Cox proportional hazards regression, high catestatin was one of the independent factors for predicting MACEs after adjustment for other risk factors (hazard ratio 0.19, 95% confidence interval 0.06-0.62, P=0.006) among elderly patients. CONCLUSIONS: Elderly AMI patients with lower plasma catestatin levels are more likely to develop MACEs. Catestatin may be a novel marker for the long-term prognosis of AMI, especially in elderly patients.

Investigation and analysis of knowledge and behavior of iodine deficiency disorders prevention and treatment among pregnant women in iodine deficiency areas in Anhui Province / 中华地方病学杂志

Objective:To understand the knowledge and behavior changes of pregnant women on iodine deficiency disorders (IDD) prevention and treatment in iodine deficiency areas in Anhui Province before and after the implementation of the intervention measures, and to provide a scientific basis for pregnant women's iodine nutrition improvement.Methods:From March to December 2018, from Lujiang County, an iodine deficiency area in Anhui Province, Lucheng and Nihe towns were selected as the survey sites. Relying on the township health centers, pregnant women in early pregnancy (≤12 weeks) were selected as the survey subjects, and long-term follow-up was conducted. The edible salt samples of pregnant women in early pregnancy were collected and salt iodine content was detected by direct titration method. The urine samples of pregnant women in the morning in early, middle (13 - 28 weeks) and late pregnancies (≥29 weeks) were collected, urinary iodine content was determined by arsenic-cerium catalytic spectrophotometry. Baseline questionnaire survey was conducted for pregnant women in early pregnancy, mainly including basic information, IDD prevention and treatment knowledge (pregnant women prone to iodine deficiency, the harm of iodine deficiency in pregnant women, suitable iodine supplement methods for pregnant women and foods with high iodine content), and the consumption frequency of iodine-rich foods. After the baseline survey, the knowledge publicity on IDD prevention and treatment was carried out in townships, and iodine-rich foods such as kelp and laver were recommended to supplement iodine. The intervention activities lasted for 6 months, and retrospective questionnaire survey was conducted on pregnant women in late pregnancy.Results:A total of 128 edible salt samples were collected from the families of pregnant women in early pregnancy, and the median salt iodine was 21.5 mg/kg. The iodized salt coverage rate was 99.2% (127/128), the qualified rate of iodized salt was 98.4% (125/127), and the consumption rate of qualified iodized salt was 97.7% (125/128). A total of 129, 95 and 70 urine samples were collected from pregnant women in early, middle and late pregnancies, the medians urinary iodine were 179.0, 185.5 and 189.7 μg/L, respectively, all of which were at the appropriate iodine level. The total awareness rates of IDD prevention and treatment before and after intervention were 22.4% (28/125) and 64.6% (82/127), respectively, and the difference was statistically significant (χ 2 = 45.538, P < 0.01). Compared with the awareness rates before the intervention, the awareness rates of the harm of iodine deficiency in pregnant women, suitable iodine supplement methods for pregnant women and foods with high iodine content were all higher after the intervention ( P < 0.01). There were statistically significant differences in the frequency of eating kelp, laver and other iodine-rich foods among pregnant women in early, middle and late pregnancies (χ 2 = 163.170, 102.373, P < 0.01). Before the intervention, 57 (45.2%) pregnant women had not eaten kelp, which decreased to 1 (0.8%) pregnant woman after the intervention. Before the intervention, 72 (57.1%) pregnant women had not eaten laver and other iodine-rich foods, which decreased to 7 (5.5%) pregnant women after the intervention. Conclusions:After the intervention, the awareness rate of IDD prevention and treatment knowledge and the frequency and proportion of iodine-rich foods consumption among pregnant women in iodine deficiency areas in Anhui Province have increased significantly. It is recommended to carry out publicity and education on IDD prevention and treatment knowledge in early pregnancy.

The Association of Socioeconomic Status with the Burden of Cataract-related Blindness and the Effect of Ultraviolet Radiation Exposure: An Ecological Study / 生物医学与环境科学（英文）

Objective@#To assess the association of socioeconomic status with the burden of cataract blindness in terms of year lived with disability (YLD) rates and to determine whether ultraviolet radiation (UVR) levels modify the effect of socioeconomic status on this health burden.@*Methods@#National and subnational age-standardized YLD rates associated with cataract-related blindness were derived from the Global Burden of Disease (GBD) study 2017. The human development index (HDI) from the Human Development Report was used as a measure of socioeconomic status. Estimated ground-level UVR exposure was obtained from the Ozone Monitoring Instrument (OMI) dataset of the National Aeronautics and Space Administration (NASA).@*Results@#Across 185 countries, socioeconomic status was inversely associated with the burden of cataract blindness. Countries with a very high HDI had an 84% lower age-standardized YLD rate [95% confidence interval ( @*Conclusion@#Long-term high-UVR exposure amplifies the association of poor socioeconomic status with the burden of cataract-related blindness. The findings emphasize the need for strengthening UVR exposure protection interventions in developing countries with high-UVR exposure.

Direct determination of arsenic in urine by inductively coupled plasma mass spectrometry / 中华地方病学杂志

Objective:To establish a direct and rapid method for direct determination of arsenic in urine by inductively coupled plasma mass spectrometry (ICP-MS).Methods:The newly collected urine samples were diluted directly with pure water without pretreatment. The total arsenic content in urine was determined directly by ICP-MS. The method was studied from the aspects of linear range of standard curve, correlation coefficient, detection limit, precision and accuracy.Results:The concentration of arsenic in urine was in the range of 0 - 200 μg/L, the ratio of arsenic to germanium was in good linear relationship with arsenic concentration, the correlation coefficient was 0.999 5 - 0.999 9 ( n = 6), the lowest qualitative and quantitative detection limits of arsenic in urine were 0.66 and 1.94 μg/L(the sampling volume was 0.50 ml), respectively. Five urine samples with different arsenic concentrations were tested for intrabatch and inter batch precision with RSD ranging from 1.51% to 6.84% and 1.85% to 5.03%, respectively. The total arsenic of urine samples from the Center for Endemic Disease Control, Chinese Center for Disease Control and Prevention was determined with this method, and the results were within the range of the published consensus value. The recovery rate of 4 urine samples with arsenic concentration range 3.19 - 89.36 μg/L was 99.25% - 103.67%, and the total average recovery rate was 101.51%. Conclusions:Application of ICP-MS method to detect arsenic content in urine, urine samples can be directly injected to realize the automation of injection, detection process and result analysis. The test parameters such as sensitivity, precision and accuracy of the method meet the requirements of the development of biological sample detection method and are suitable for rapid and direct determination of total arsenic in urine.

A study on the determination method of iodine content in urine by enzyme-lobeled instrument / 中华地方病学杂志

Objective:To establish an enzyme-labeled instrument automatic colorimetric method for determination of iodine content in human urine.Methods:The enzyme-labeled instrument automatic colorimetric method was used to determine the iodine content in human urine. The linear range, detection limit and precision of the method were verified. And the urine iodine test results were compared with the results tested by national health industry standard as arsenic-cerium catalytic spectrophotometry.Results:The linear range of iodine standard curve of the enzyme-labeled instrument automatic colorimetric method was 0 - 300 μg/L, the linear correlation coefficient ( r) was - 0.999 5 to - 0.999 2, and the detection limit was 6.5 μg/L. The relative standard deviation ( RSD) of urine samples with low, medium and high iodine concentration were all < 3%, the recovery rate ranged from 92.2% to 109.2%, and the total average recovery rate was 99.6%. There was no significant difference in the detection results of iodine content in 40 urine samples between the enzyme-labeled instrument automatic colorimetric method and arsenic-cerium catalytic spectrophotometry ( t = 1.347, P > 0.05); and the detection speed of the enzyme-labeled instrument automatic colorimetric method was 7.5 times of the arsenic-cerium catalytic spectrophotometry. Conclusion:The enzyme-labeled instrument automatic colorimetric method has a reasonable linear range, good precision and high accuracy in determination of urinary iodine content, and the enzyme-labeled instrument automatied fast colorimetry has improved the analysis speed, it is suitable for detection of large quantities of samples.

Study on the application of enzyme-labeled instrument in the detection of iodine in drinking water / 中华地方病学杂志

Objective:To establish an automatic colorimetric method for determination of iodine in drinking water by enzyme-labeled instrument (hereinafter referred to as this method).Methods:The water iodine was measured in the range of 0 - 10 μg/L and 0 - 100 μg/L, experiments were carried out on linear relationship, detection limit, precision and accuracy of this method. And the results were compared with the National Reference Laboratory for Iodine Deficiency Disorders recommended arsenic cerium catalytic spectrophotometry method.Results:In the range of 0 - 10 μg/L and 0 - 100 μg/L, all│ r│ > 0.999 0, the detection limits were 0.6 and 1.1 μg/L (samples were 200 and 100 μl), respectively; the relative standard deviation ( RSD) of water samples of low, medium and high iodine mass concentrations were < 3%, the recovery rates ranged from 92.5% to 108.3% and 93.2% to 108.9%, with a total average recovery of 100.0% and 100.3%, respectively. This method and arsenic cerium catalytic spectrophotometry method were used to detect 40 water samples in the range of 0 - 10 μg/L and 0 - 100 μg/L, there was no significant difference in water iodine content between the two methods ( t = 0.99, P > 0.05). Conclusion:This method has good linear curve relationship for determination of water iodine content, good precision and high accuracy, and it is suitable for wide application.

Association between CFH gene polymorphisms and unexplained mild vision loss in type 2 diabetes patients / 中华实验眼科杂志

Objective:To investigate whether the presence of complement factor H( CFH) gene polymorphisms is associated with unexplained mild visual loss (UMVL) in type 2 diabetes mellitus patients. Methods:A case control study was adopted.The participants included two groups from a previous population-based epidemiology study on type 2 diabetes mellitus patients in the Beixinjing community, Shanghai: UMVL was defined by a best corrected visual acuity(BCVA)<20/25 and≥20/63 in both eyes, with no eye diseases causing visual impairment, such as corneal diseases, cataract, age-related macular degeneration, glaucoma, optic nerve atrophy, diabetic retinopathy, etc.Genomic DNA was isolated from the peripheral venous blood of all the participants and then loaded onto Fluidigm Digital Arrays.Four CFH gene single nucleotide polymorphisms (SNPs)(rs800292, rs1061170, rs529825, rs1410996, rs203674) were assessed with the SPSS 13.0 and HAPLoVIEW 4.0 software to test the statistical association of CFH polymorphisms with UMVL.The study protocol was approved by the Ethics Committee of Shanghai General Hospital, Shanghai Jiaotong University(No.2013KY023). All the procedures were conducted according to the tenets of the Declaration of Helsinki.Written informed consent was obtained from each subject prior to entering the study cohort. Results:Total of 135 residents with UMVL and 133 with normal vision(BCVA≥20/25 in both eyes) were enrolled.The UMVL group matched the control group in terms of gender, age, onset age, and duration of diabetes mellitus, hemoglobin A1c levels, and body mass index(all at P>0.05). The four SNPs(rs800292, rs1061170, rs529825, rs1410996) except rs203674 tested in the UMVL and control groups were qualified by the Hardy-Weinberg equilibrium ( P>0.05). There were no differences in SNPs and genotypes between the two groups in the four loci of the CFH gene.The P value of allele frequencies of rs529825, rs800292, rs1410996 and rs1061170 were 0.79, 0.25, 0.69 and 0.77, respectively, and the P value of genotype frequencies were 0.61, 0.69, 0.87 and 0.43, respectively. Conclusions:There is no correlation between CFH gene polymorphism and UMVL in type 2 diabetic patients.

Surveillance of malaria vectors in Anhui Province from 2016 to 2018 / 中国血吸虫病防治杂志

Objective To understand the population distribution, density, seasonal fluctuation and nocturnal activity of malaria vectors in Anhui Province from 2016 to 2018, so as to provide a data support for formulating the control strategy for imported malaria during the malaria post-elimination stage. Methods The malaria vectors were monitored in 105 counties (cities or districts) of Anhui Province from 2016 to 2018, and the population density, seasonal fluctuation and nocturnal activity of the mosquitoes were observed using the lamp trapping and human bait trapping methods. The density of Anopheles mosquitoes was compared among different years, regions and mosquito-capturing sites. Results Anopheles mosquitoes were captured in 103 counties (cities or districts) of Anhui Province during the period from 2016 to 2018, and a total of 32 494 mosquitoes were captured using the lamp trapping method and 36 228 captured using the human bait trapping method. All captured mosquitoes were morphologically identified as Anopheles sinensis, and no An. anthropophagus was found. The density of An. sinensis peaked from June to August, and the peak nocturnal activity was found during the period between 19∶00 and 23∶00. Among all mosquito-capturing sites, the highest mosquito density was seen in the livestock and poultry sheds (H = 18.835, P < 0.05). The density of An. sinensis varied significantly in regions in 2016 and 2017 (H = 16.655 and 11.566, P < 0.01), and a low density was found in north of the Huai River. Conclusions An. sinensis is widely distributed in Anhui Province, which is the currently predominant malaria vector in the province. During the malaria post-elimination stage, the malaria vector monitoring should be intensified and vector control interventions should be timely adopted in epidemic foci of Anhui Province to prevent the local re-transmission of overseas imported malaria.

Paroxysmal nocturnal hemoglobinuria complicated with chronic tubulointerstitial nephritis: a case report and literature review / 中华肾脏病杂志

Objective:To report a rare case of paroxysmal nocturnal hemoglobinuria (PNH) complicated with chronic tubulointerstitial nephropathy, combined with literature review, and discuss the clinical, imaging and pathological characteristics of the disease and the diagnosis and treatment ideas.Methods:The patient's clinical data, magnetic resonance imaging (MRI) and kidney pathological examination results, treatment measures and effects were collected and reported. Through systematic review of relevant literature, the clinical manifestations and pathogenesis of chronic tubular interstitial nephropathy complicated by PNH were summarized and discussed.Results:In this case, PNH was diagnosed for more than 30 years, the peripheral blood PNH clone was positive, urine specific gravity was 1.012, urine pH 6.0-7.0, urine protein (+), urine sugar (3+), serum creatinine 259 μmol/L, serum lactic acid dehydrogenase 800 U/L. MRI showed bilateral renal cortical signal was low intensity on both T1- and T2- weighted images. Kidney biopsy revealed remarkable chronic tubulointerstitial nephropathy with massive hemosiderin deposition in proximal tubular cells demonstrated by Prussian blue staining and electron microscopy. By using low-dose prednisone to control hemolytic attack and other supportive treatments, the patient's renal function has been stabilized for a long time.Conclusions:PNH complicated with chronic tubulointerstitial nephritis is easy to be misdiagnosed due to insidious onset. MRI and kidney histopathological examination are helpful to clarify the diagnosis. Early diagnosis and treatment are helpful to improve the prognosis of such patients.

Association of non-thyroidal illness syndrome with interleukin-6 and interleukin-10 in critically ill children with sepsis / 中国当代儿科杂志

OBJECTIVE@#To study the incidence rate of non-thyroidal illness syndrome (NTIS) in critically ill children with or without sepsis and the association of NTIS with interleukin-6 (IL-6) and interleukin-10 (IL-10).@*METHODS@#A retrospective analysis was performed on the medical data of 97 children with sepsis (sepsis group) and 80 non-sepsis children with bacterial infection (non-sepsis group). The correlations of IL-6 and IL-10 with the thyroid function parameters triiodothyronine (T3), thyroxine (T4), and thyroid stimulating hormone (TSH) were analyzed.@*RESULTS@#There were no significant differences in age and sex between the sepsis and non-sepsis groups (P>0.05). Compared with the non-sepsis group, the sepsis group had a significantly higher Sequential Organ Failure Assessment score, a significantly longer length of hospital stay, and a significantly higher rate of use of ventilator (P0.05), but the pooled analysis of the two groups showed that IL-6 level was negatively correlated with T3 and T4 levels (P<0.001).@*CONCLUSIONS@#Children with sepsis have a higher incidence rate of NTIS than those without sepsis. The high level of IL-6 may be associated with the development of NTIS.

Identification of a novel c.1A>G variant of GDAP1 gene in a pedigree affected with autosomal recessive fibula atrophy / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a pedigree affected with Charcot-Marie-Tooth (CMT) disease through high-throughput sequencing.@*METHODS@#Potential variants of the genes associated with CMT were screened by next-generation sequencing (NGS) of the members of the pedigree.@*RESULTS@#NGS has revealed that the two affected sisters both harbored homozygous c.1A>G variant of the GDAP1 gene, which caused replacement of the first amino acid Methionine by Valine (p.Met1Val). Their parents were both carriers of the heterozygous c.1A>G variant. The variant was unreported previously and has an extremely low frequency in the population. Meanwhile, one of the sisters and the mother also carried heterozygous c.710A>T variant of the BAG3 gene.@*CONCLUSION@#The homozygous c.1A>G variant of the GDAP1 gene probably underlay the CMT in both children. Above result has enabled clinical diagnosis and genetic counseling for this pedigree.

Risk factors of left ventricular hypertrophy in non-dialysis dependent end-stage renal disease patients / 中华肾脏病杂志

Objective@#To investigate the risk factors of left ventricular hypertrophy (LVH) in non-dialysis dependent end-stage renal disease (ESRD) patients.@*Methods@#ESRD patients in the First Affiliated Hospital of Sun Yat-sen University from Jan to July 2019 were enrolled. Demographic data of patients were collected and biochemical parameters were measured. Hydration status index (extracellular water/total body water, ECW/TBW) was measured by bioelectrical impedance analysis (BIA), and LVH was diagnosed by echocardiography. Patients were divided into LVH group and non-LVH group according to LVH diagnostic criteria, and the incidence of LVH in ESRD non-dialysis patients was calculated. Logistic regression was used to analyze the risk factors of LVH.@*Results@#A total of 105 non-dialysis dependent ESRD patients aged (47.03±12.56) years (21-78 years) were enrolled in present study, among whom 74 patients (70.5%) had LVH. Compared to non-LVH group, patients in LVH group had higher proportion of diabetes and calcium antagonist used, higher value of ECW/TBW and ECW/Height, higher level of night systolic pressure, and were older (all P<0.05). Spearman correlation analysis showed LVH was positively correlated to diabetes (r=0.345, P<0.001), night systolic pressure (r=0.286, P<0.001), night diastolic pressure (r=0.251, P=0.012), calcium antagonist used (r=0.381, P=0.013), ECW/TBW (r=0.383, P=0.005), ECW/Height (r=0.298, P=0.003), 24 h sodium urinary excretion (r=0.257, P=0.025), brain natriuretic peptide (r=0.315, P=0.005) and hemoglobin (r=0.307, P=0.018), and negatively correlated to 24 h potassium urinary excretion (r=-0.248, P=0.023). Logistic regression showed that increased night diastolic pressure (OR=2.036, 95%CI 1.144-3.623, P=0.016) and ECW/TBW (OR=1.232, 95%CI 1.025-1.523, P=0.014) were the independent risk factors of LVH after adjusting for gender, age, diabetes, nocturnal blood pressure, antihypertensive drugs used, ECW/TBW, urinary sodium excretion and hemoglobin.@*Conclusions@#LVH is common in non-dialysis dependent ESRD patients. Over hydration and high night diastolic blood pressure are the independent risk factors of LVH in non-dialysis dependent ESRD patients.

Risk factors of left ventricular hypertrophy in non-dialysis dependent end-stage renal disease patients / 中华肾脏病杂志

Objective To investigate the risk factors of left ventricular hypertrophy (LVH) in non-dialysis dependent end-stage renal disease (ESRD) patients. Methods ESRD patients in the First Affiliated Hospital of Sun Yat-sen University from Jan to July 2019 were enrolled. Demographic data of patients were collected and biochemical parameters were measured. Hydration status index (extracellular water/total body water, ECW/TBW) was measured by bioelectrical impedance analysis (BIA), and LVH was diagnosed by echocardiography. Patients were divided into LVH group and non-LVH group according to LVH diagnostic criteria, and the incidence of LVH in ESRD non-dialysis patients was calculated. Logistic regression was used to analyze the risk factors of LVH. Results A total of 105 non-dialysis dependent ESRD patients aged (47.03 ± 12.56) years (21-78 years) wereenrolled in present study, among whom 74 patients (70.5％) had LVH. Compared to non-LVH group, patients in LVH group had higher proportion of diabetes and calcium antagonist used, higher value of ECW/TBW and ECW/Height, higher level of night systolic pressure, and were older (all P<0.05). Spearman correlation analysis showed LVH was positively correlated to diabetes (r=0.345, P<0.001), night systolic pressure (r=0.286, P<0.001), night diastolic pressure (r=0.251, P=0.012), calcium antagonist used (r=0.381, P=0.013), ECW/TBW (r=0.383, P=0.005), ECW/Height (r=0.298, P=0.003), 24 h sodium urinary excretion (r=0.257, P=0.025), brain natriuretic peptide (r=0.315, P=0.005) and hemoglobin (r=0.307, P=0.018), and negatively correlated to 24 h potassium urinary excretion (r=-0.248, P=0.023). Logistic regression showed that increased night diastolic pressure (OR=2.036, 95％CI 1.144-3.623, P=0.016) and ECW/TBW (OR=1.232, 95％CI 1.025-1.523, P=0.014)were the independent risk factors of LVH after adjusting for gender, age, diabetes, nocturnal blood pressure, antihypertensive drugs used, ECW/TBW, urinary sodium excretion and hemoglobin. Conclusions LVH is common in non-dialysis dependent ESRD patients. Over hydration and high night diastolic blood pressure are the independent risk factors of LVH in non-dialysis dependent ESRD patients.

Evaluation value of echocardiographic index and serum myocardial enzyme level changes for gestational hypertension／ / 心血管康复医学杂志

To explore relationship among disease severity , serum myocardial enzyme levels and echocar‐diographic indexes in patients with gestational hypertension (GH).Methods : A total of 101 GH inpatients treated in our department of gynecology from 2015 to 2018 were divided into severe group (severe preeclampsia and eclampsia patients , n＝46 ) and mild group (mild preeclampsia patients , n＝ 55 ) , and another 60 normal pregnant women were simultaneously selected as normal control group .Heart indexes , serum levels of creatine kinase isoenzyme MB (CK‐MB) and creatine kinase (CK ) were measured and compared among three groups .Results : Compared with normal control group , there were significant rise in LVESd , LVEDd , right ventricular diameter (RVD) , end‐di‐astolic interventricular septal thickness (IVSTd ) and left ventricular posterior wall thickness (LVPWT ) in mild group and severe group , and above indexes of severe group were significantly higher than those of mild group , P＜0.01 all.Compared with normal control group , there was significant rise in transmitral late diastolic peak flow ve‐locity (A) , and significant reductions in LVEF , cardiac output (CO) , cardiac index (CI) , transmitral early dias‐tolic peak flow velocity (E) and E／A in mild group and severe group ;compared with mild group , there was signifi‐cant rise in A , and significant reductions in LVEF , CO , CI , E and E／A in severe group , P＜0. 01 all .Compared with normal control group , there were significant rise in serum levels of CK‐MB [ (6.2 ± 2.5) IU／L vs.(9.4 ± 3.2) IU／L vs.(15. 3 ± 5. 7) IU／L] and CK [(41.8 ± 7.9) IU／L vs.(61.7 ± 12. 5) IU／L vs.(88. 7 ± 20. 4) IU／L] in mild group and severe group , and those of severe group were significantly higher than those of mild group , P＝0.001 all.Conclusion : Echocardiography and myocardial enzyme examination in GH patients help to understand functional state and structure of heart , which possess important significance for early identification and treatment .

Low-Charge Electrotherapy in Geriatric Major Depressive Disorder Patients: A Case Series

To examine the feasibility of low-charge electrotherapy (LCE) in treating geriatric major depressive disorder (MDD) patients. Bi-temporal LCEs (approximately 25 mC) were performed with an electroconvulsive therapy (ECT) instrument three times per week. We used the Hamilton Depression Scale 17 (HAMD-17) and the Hamilton Anxiety Scale (HAMA) to assess the effects of LCE and the Mini-Mental State Examination (MMSE) to evaluate the cognitive function change before and after LCE. Six visits occurred at the baseline, after LCE sessions 3, 6, and 9, after the last session, and at the end of the one-month follow-up period. Four patients were enrolled in the study. Two patients completed all LCE sessions. Two patients withdrew during the trial, one due to the adverse event of uroschesis potentially caused by atropine and the other due to her own will. All four patients completed the follow-up sessions. The HAMD-17 and HAMA scores were reduced significantly at the last LCE session and the end of the follow-up period compared with the scores at the baseline. As measured by the MMSE, cognitive impairment showed no significant changes at the last LCE session and the end of the follow-up period compared with that at the baseline. In this case series, LCE showed potential as an alternative current-based treatment for treating geriatric MDD patients. Further research is needed to assess the efficiency and safety of LCE.

The effect of pre- and after-treatment of sevoflurane on central ischemia tolerance and the underlying mechanisms

In recent years, with continuous research efforts targeted at studying the effects of pre- and after-treatment of inhaled anesthetics, significant progress has been made regarding the common clinical use of low concentrations of inhaled sevoflurane and its effect on induced central ischemia tolerance by pre- and post-treatment. In this study, we collected, analyzed, classified, and summarized recent literature regarding the effect of sevoflurane on central ischemia tolerance and its related mechanisms. In addition, we provide a theoretical basis for the clinical application of sevoflurane to protect the central nervous system and other important organs against ischemic injury.

Related Factors of Rehabilitation Needs of People with Disabilities in Jiangsu,China / 中国康复理论与实践

Objective To explore the rehabilitation needs of people with disabilities and the related factors,so as to provide a scien-tific basis for the rehabilitation policy-making for people with disabilities. Methods From June,2014 to July,2015,based on the national special survey of basic services and needs of people with disabilities in Jiangsu,China,this paper clarified the factors related with the rehabilitation needs of the disabled into the individual characteristics, economic characteristics, environmental characteristics and so on by the de-scriptive statistics method. The Logit model was established to explore the factors related with rehabilitation needs. Results In Jiangsu,43% people with disabilities aged 16 and above had rehabilitation needs.Contingency table analysis and Chi square test showed that individual characteristics,economic characteristics and environmental character-istics had significant impact on the rehabilitation needs of the disabled.Multiple regression analysis showed that all the 18 variables were the significant related factors. Conclusion In order to meet the rehabilitation needs of the disabled, the refined and precise rehabilitation program should be designed in line with the different characteristics of the disabled.Through the effective docking of sup-plies and needs,we can provide accurate rehabilitation services for the disabled.