Objective To explore the correlations between image quality of prospective and retrospective electrocardiogram(ECG)-gated CT coronary angiogram and radiation dose in patients with different heart rates.Methods A total of 135 patients undergoing 256-slice spiral CT coronary angiography were enrolled in the study.Among them,66 cases received prospective ECG-gated scanning(prospective ECG-gated group)and further divided into two subgroups with heart rate≤80 beats/min(prospective ECG-gated+low heart rate subgroup,n=39)and>80 beats/min(prospective ECG-gated+high heart rate subgroup,n=27).The other 69 cases underwent retrospective ECG-gated scanning(retrospective ECG-gated group),including 45 cases with heart rate≤80 beats/min(retrospective ECG-gated+low heart rate subgroup)and 24 with heart rate>80 beats/min(retrospective ECG-gated+high heart rate subgroup).The baseline data,image quality[mean CT value,image noise,signal-to-noise ratio(SNR),subjective image quality score]and radiation dos[CT volume dose index(CTDIvol),dose length product(DLP),effective dose(ED)]were compared among 4 subgroups.The correlations of image quality with heart rate and radiation dose in prospective and retrospective ECG-gated groups were analyzed.Results The heart rates in prospective and retrospective ECG-gated+low heart rate subgroups were lower than those in prospective and retrospective ECG-gated+high heart rate subgroups(P<0.05).When comparing the mean CT value,image noise,SNR and subjective image quality score among 4 subgroups,no statistically significant differences were observed(P>0.05).The CTDIvol,DLP and ED in prospective ECG-gated+low heart rate subgroup were significantly lower than those in the other 3 subgroups(P<0.05),and the indicators in prospective ECG-gated+high heart rate subgroup were lower than those in retrospective ECG-gated group(including low and high heart rate subgroups)(P<0.05).Pearson correlation coefficient analysis revealed that the mean CT value,image noise,SNR,subjective image quality score had no significant correlation with heart rate,CTDIvol,DLP and ED in prospective and retrospective ECG-gated groups(P>0.05).Conclusion The subjective and objective image quality of 256-slice spiral CT coronary angiography is not correlated with radiation dose.Prospective ECG-gated scanning can reduce the radiation dose and ensure the image quality as compared with retrospective ECG-gated scanning.This holds true for eligible patients with high heart rate,and the former can effectively reduce radiation exposure.Therefore,prospective ECG-gated scanning is worthy to be promoted in clinic.

Objective To explore the relationship between geriatric nutritional risk index(GNRI)and adverse outcomes in elderly patients undergoing maintenance hemodialysis(MHD).Methods A prospective cohort trial was conducted on 337 MHD patients aged ≥60 years in hemodialysis centers of 11 hospitals in Beijing from April to June 2017.Their baseline data were collected,and they were divided into non-malnutrition(GNRI≥98,226 cases),mild malnutrition(92≤GNRI＜98,81 cases),and major malnutrition groups(GNRI＜92,30 cases).All of them were followed up until June 2018.The endpoint events were all-cause mortality and cardiovascular disease(CVD)mortality.Kaplan-Meier survival analysis was used to compare the cumulative survival rate among the 3 groups.Multivariate Cox regression model was employed to analyze the relationship of GNRI with all-cause and CVD mortality.Results The mild and major malnutrition groups had significantly lower BMI,serum albumin level and GNRI(P＜0.01).During the median follow-up of 52(4.4-52.0)weeks,56(16.6％)patients died of all-cause death and 25(44.6％)of CVD death.Kaplan-Meier survival curve showed significant differences in all-cause mortality(x2=30.484,P＜0.01)and CVD mortality(x2=22.398,P＜0.01)in the 3 groups.Multivariate Cox regression analysis indicated that,as a continuous variable,elevated GNRI was a protective factor for all-cause mortality(HR=0.910,95％CI:0.870-0.952,P=0.000)and CVD mortality(HR=0.895,95％CI:0.852-0.940,P=0.000),and as a categorical variable,mild and major malnutri-tion were independently correlated with all-cause and CVD mortality(P＜0.05).Conclusion GNRI is an independent risk factor for all-cause and CVD mortality in elderly MHD patients.Mo-nitoring the nutritional status using GNRI can predict the risk of adverse prognosis.

Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.

Objective To explore the relationship between hyperkalemia and adverse outcomes in elderly maintenance hemodialysis(MHD)patients.Methods A retrospective cohort trial was conducted on 177 MHD patients aged≥60 years in the hemodialysis center of Beijing Shijitan Hospital,Capital Medical University.Baseline data were collected.The mean age was(77.28±14.25)years,among them 109 cases were males(61.6%).According to the peak serum potassium within 4 months,patients were divided into the K+＜5.0 mmol/L group(38 cases,21.5%),the 5.0-5.5 mmol/L group(42 cases,23.7%)and the K+≥5.5 mmol/L group(97 cases,54.8%).Based on the frequency of hyperkalemia within 4 months,patients were divided into the 0,1-2 and 3-4 frequency groups.All of patients were followed up for 1 year.The end point events were all-cause mortality and cardiovascular disease(CVD)mortality.Kaplan-Meier survival analysis was used to compare the cumulative survival rate between the 3 groups.A multivariate Cox regression model was employed to analyze the relationship between the degree and frequency of hyperkalemia with all-cause and CVD mortality.Results The mean follow-up time of 177 patients was 12(1-12)months,20(11.3%)patients died of all-cause death and 14(7.9%)of CVD death.Kaplan Meier survival curve showed cardiovascular mortality rate and all-cause mortality were significantly increased in the K+5.0-5.5 mmol/L group and the K+≥5.5 mmol/L group(both P＜0.05).Multivariate Cox regression analysis indicated that,as a continuous variable,peak potassium levels were independently associated with an increased risk of all-cause death and CVD death(P＜0.001).As a categorical variable,the all-cause mortality risk and CVD mortality risk were significantly higher in both the K+5.0-5.5 mmol/L group and the K+≥5.5 mmol/L group than those in the K+＜5.0 mmol/L group(P＜0.05),and those were significantly higher in the 1-2 and 3-4 frequency groups than those in the 0 frequency group of hyperkalemia(P＜0.05).Conclusion Serum potassium>5.0 mmol/L in elderly MHD patients is an independent risk factor for all-cause and CVD mortality.It is recommended to adjust the upper limit of the normal range of serum potassium to 5.0 mmol/L.

Objective:To investigate the changes and associated factors of cerebral blood flow in middle-aged and elderly patients undergoing maintenance hemodialysis (MHD).Methods:This was a prospective observational study. End-stage renal disease (ESRD) patients undergoing MHD aged over 50 years at Beijing Shijitan Hospital, Capital Medical University from January 2023 to June 2023 were included. General clinical data of the selected individuals were collected, and dialysis related indicators were recorded and calculated. Mean flow velocity (MFV) of the middle cerebral arterial was measured by transcranial Doppler sonography (TCD) to represent cerebral blood flow throughout dialysis. Hemodialysis-related variables were collected. The MFV values of bilateral middle cerebral artery were measured through temporal windows at 7 time points: 15 minutes before dialysis (T1), 15 minutes (T2), 30 minutes (T3), 60 minutes (T4), 120 minutes (T5), 180 minutes (T6) during dialysis, and the endpoint of dialysis (T7), and the average values were recorded. The ΔMFV was calculated as pre-minus endpoint values of MFV. The Spearman rank correlation method was used to analyze the correlations between ΔMFV and dialysis-related variables, and multiple linear regression method was used to analyze the related factors of the changes in MFV.Results:This study included a total of 123 patients undergoing MHD, aged (63.63±8.44) years (range 50-85 years), including 99 males (80.5%). TCD examination demonstrated a decline trend in MFV throughout dialysis. The MFV at T7 was significantly lower than that at T1 ( Z=-7.650, P<0.001). The Spearman correlation analysis showed that the decline in MFV was correlated with ultrafiltration volume ( r=0.356), ultrafiltration rate ( r=0.371), the difference in systolic pressure (pre-analysis minus post-dialysis, r=0.251), the difference in mean arterial pressure (pre-dialysis minus post-dialysis, r=0.194), combined diabetes ( r=0.293), dialysis vintage ( r=0.220), Kt/V ( r=0.287), and serum albumin ( r=-0.295). Multiple linear regression analysis showed that combined with diabetes ( B=3.889, 95% CI 1.373-6.405, P=0.003), decreased serum albumin ( B=-0.456, 95% CI -0.877--0.036, P=0.034), increased ultrafiltration rate ( B=11.099, 95% CI 6.402-15.797, P<0.001) and the decline in systolic pressure ( B=0.062, 95% CI 0.008-0.116, P=0.026) were significantly associated with the decline in MFV throughout dialysis. Conclusions:In middle and elderly patients with ESRD undergoing hemodialysis, there is a decline trend in cerebral blood flow during hemodialysis. The combination of diabetes, lower serum albumin, higher ultrafiltration rate, and intradialytic systolic pressure decline are the risk factors influencing the intradialytic decline of cerebral blood flow.

OBJECTIVE: To explore the genetic basis for an infant with permanent neonatal diabetes mellitus (PNDM). METHODS: Clinical data of the child was collected. Targeted capture-next generation sequencing was carried out to identify the potential variants. Candidate variant was verified by Sanger sequencing of her family members. RESULTS: The child was a 4-month-and-26-day female featuring onset of ketoacidosis accompanied with fasting blood glucose of 24.4 mmol/L, positive urine glucose, decreased serum C-peptide, HbA1c of 9.58%, and negative diabetes autoantibody. Genetic testing revealed that she has carried a heterozygous c.314T>G (p.L105R) variant of the INS gene. Sanger sequencing verified that neither of her parents has carried the same variant, which was also unreported in the literature. The variant was classified as likely pathogenic based on the ACMG guidelines. CONCLUSION The c.314T>G (P.L105R) variant of the INS gene probably underlay the genetic etiology in this child. Genetic testing should be conducted for children with suspected PNDM for early diagnosis and appropriate treatment.
Humans ; Infant ; Child ; Infant, Newborn ; Female ; Mutation ; Insulin/genetics* ; Diabetes Mellitus/genetics* ; Genetic Testing

Objective:To explore the clinical and molecular genetic characteristics of patients with maturity-onset diabetes of the young type 2(MODY2).Methods:Clinical data and laboratory results were collected from five MODY2 patients and their family members diagnosed in the Department of Endocrinology, Genetics, and Metabolism of Xi ′an Children′s Hospital in the recent two years. Whole exome sequencing was carried out on every proband to identify potential variants, then the suspected variants were verified with Sanger sequencing in family numbers.Results:Among the 5 probands, except for proband 4 who presented with polydipsia and polyuria, hyperglycemia in the rest of the children was accidentally identified. Urine routine, urinary protein, and blood lipid of the five probands were all normal, and HbA 1C was between 5.96% and 8.15%. Moreover, an important discovery in this study was that proband 5 had insulin resistance(IRS), which was different from previous studies. It was confirmed by genetic analysis that a glucokinase(GCK) gene variant existed in every MODY2 pedigree. There were four GCK variants in this study, including c. 146C>T(p.T49I), c. 1237T>G(p.Y413D), c. 683C>T(p.T228M) and c. 952G>T(p.G318W), among which the C. 1237T>G(P.y413d) and C. 952G>T(P.G318W) had not been reported till now. All probands received lifestyle intervention, and the blood glucose control was relatively stable. Conclusion:There is MODY2 patient complicated with IRS. MODY2 patients can be controlled well by lifestyle interventions. In addition, we discovered two novel variants of GCK, which extend the mutation spectrum of this gene.

Abstract: Objective To clarify the long-term evolution of hepatitis B virus (HBV) quasi-species in HBsAg asymptomatic carriers in Long'an county, Guangxi. Methods ELISA was used to detect serological markers of HBV. Viral loads were measured by real time PCR. HBV DNA was extracted from serum by kits. The whole HBV genome was amplified using nested PCR and amplicons were sequenced by next-generation sequencing (NGS). These sequences from NGS were analyzed by the software like Mega. Results Serum samples were collected from 9 HBsAg asymptomatic carriers in Longan County，Guangxi at 4 different time points in 2004, 2007, 2013, 2019 or 2020. A total of 23 serum samples and 309 full-length gene quasi-species sequences were obtained, with an average amount of (0.18±0.07) G sequencing data for each sample. Genotype of 55.54%(5/9) the studied subjects underwent genotype conversion during the long-term evolution process of HBV quasi-species, and the genotyping results of the phylogenetic tree in the PreS/S region are in perfect agreement with the results of the whole genome analysis; recombinant B/C, I/C were found; the Sn ranged from 0 to 0.37 and the genetic diversity ranged from 0 to 0.11, respectively. A total of 21 special single nucleotide/amino acid mutations (7 in the S region, 2 in the X region, 3 in the PreC region and 9 in the BCP region) and 6 deletion mutations were detected, multiple mutations were found and no drug resistant mutations were found; 77.8%(7/9) of the HBV strains carried by the subjects in 2004 had double mutations at nt1 762(A→T) and 1 764(G→A) and a stop mutation at nt1 896(G→A); HBV mutations can be restored from the mutant type to the wild type and (or) vice versa without antiviral drug pressure, and The evolution rate of HBV genome was 2.03×10-5~3.50×10-3.Conclusion HBV genotype, recombinants, genetic complexity and diversity of HBV quasi-species can change over time during in natural infection. The transformation between HBV mutation type and wild type reduces the value of predicting clinical outcomes by genetic types and related mutations to some extent. The HBV genome evolution rate of asymptomatic carriers of HBsAg in Long'an County is very high.

Objective·Transcriptomic and lipidomic analysis techniques were used to investigate the role of transient receptor potential vanilloid type 1(TRPV1)channel activation in the regulation of high-fat diet-induced microglial metabolism.Methods· Eight-week-old C57BL/6J mice(WT)and Trpvl-/-(KO)mice were used as experimental animals,and fed high-fat diet(HFD)for 3 days,7 days,and 8 weeks to induce modelling(WT and KO groups,n=3;WT-HFD and KO-HFD groups,n=4).TRPV1 channel expression and cellular localisation were measured by immunofluorescence in the brains of mice in the WT-HFD and KO-HFD group.RNA sequencing and liquid chromatography-mass spectrometry were performed to determine the brain phenotype of mice in the WT-HFD and KO-HFD groups.Results·The expression level of Trpvl mRNA in microglia was significantly increased in mice in the WT-HFD group compared to mice in the WT group.The expression levels of genes related to brain lipid metabolism,mitochondrial function,glucose transfer,and glycolysis were down-regulated in the KO-HFD group of mice compared with the WT-HFD group of mice.Lipidomic analysis showed that although lipids accumulated in the brain tissue of mice in the KO-HFD group,Trpv1 knockdown attenuated HFD-induced microglia activation,and in addition the TRPV1 agonist capsaicin attenuated palmitate-induced depolarisation of mitochondrial membrane potential in vitro.Conclusion·Together,these findings suggest that TRPV1 regulates lipid and glucose metabolism in microglia via fuel availability driven by a mitochondrial mechanism.

Objective:To provide molecular evidence for clinical diagnosis and genetic counseling by analyzing the clinical characteristics and identifying the pathogenic genes in a SPONASTRIME-type spondyloepimetaphyseal dysplasia(SEMDSP)family.Methods:Clinical data of the family members was collected and analyzed. Case 2 was identified as the proband for whole-exome sequencing and variant analysis. Suspected variants were validated across family numbers using Sanger sequencing.Results:The two affected individuals in this family, a brother and a sister, both presented as short stature. The initial diagnosis for the sister(case 1)was made at the age of 4 years and 2 months(height: 88.6 cm), and for the brother(case 2)at 4 years and 4 months(height: 81.6 cm). Both individuals exhibited distinctive facial features, including frontal bossing, midface hypoplasia with depressed nasal bridge, upturned nostrils, ocular hypertelorism, and epicanthus, thick hair, short lingual frenulum, stubby fingers and palms, and absence of scoliosis. The parents displayed normal phenotypes. Laboratory tests indicated growth hormone deficiency in both affected individuals. Imaging studies revealed significant bone age delay in case 2, while case 1 showed longitudinal striations at the distal radius but with bone age matching their actual age(5 years and 11 months). Despite receiving recombinant human growth hormone treatment, both patients had inadequate responses. Genetic testing identified compound heterozygous mutations in the TONSL gene shared by the two siblings. These mutations included a paternally inherited c. 1291-14_1291-11delCCTC and a maternally inherited c. 1909_1920delACGCTGCAGCAG. Notably, SEMDSP families have not been reported in China, and the c. 1909_1920delACGCTGCAGCAG mutation is a novel variant.Conclusion:Two patients were diagnosed as spondyloepimetaphyseal dysplasia, SPONASTRIME type, and the compound heterozygous variant was the genetic cause of this family.