1.Homozygous variants of the new allele A4GALT result in rare p blood groups
Ziyi HE ; Yingming HU ; Guangping LUO ; Xiaomei JIE ; Menghui BEI ; Xianguo XU
Chinese Journal of Laboratory Medicine 2024;47(11):1345-1348
The proband was a 33-year-old pregnant woman (G4P1) who suffered spontaneous abortion in the first 3 months of pregnancy without a history of blood transfusion or transplantation. The fourth pregnancy was clinically diagnosed with threatened abortion, and a cesarean section was performed on June 28, 2023, at the Obstetrics and Gynecology Department of Dongguan Hospital of Traditional Chinese Medicine. During cross-matching tests, unexpected antibodies were detected in the proband′s plasma, which could not be specifically identified, and no suitable donor red blood cells could be found. The blood samples were sent to the Blood Transfusion Laboratory of Dongguan Blood Center. The laboratory used serology to identify the erythrocyte phenotype of the proband and confirmed the proband as having a rare p blood group. The unexpected antibody was identified as anti-PP1P K, and gene sequencing of the proband revealed that the new allele A4GALT* (c.100G>A+c.418_428delins) was homozygous, which is speculated to cause changes in the polypeptide chains p.Veral34ile and p.GERln140TRPFS *73, and inactivation of α1, 4-galactosyltransferase. At the same time, another new allele A4GALT*c.100G>A was found in family members, and it was predicted that the single change of p.Val34Ile caused by this mutation would not affect protein function or enzyme activity.
2.Research advances in cognitive training in Alzheimer disease
Journal of Apoplexy and Nervous Diseases 2024;41(8):698-703
Alzheimer disease is the most common neurodegenerative disease characterized by cognitive impairment,mental and behavioral disorders,and decreased social functioning.The current mainstream therapeutic drugs,cholinester-ase inhibitors and N-methyl-D-aspartate receptor antagonists,mainly focus on improving cognitive function.The advance-ment in the development of novel therapeutics for the etiology has been sluggish,and there exists a paucity of drug options available.As a novel cognitive intervention approach,cognitive training has received increasing attention in the treatment of Alzheimer disease due to its ability to enhance cognition,improve daily living skills,and regulate emotions by bolstering cognitive reserve and promoting neuroplasticity.This article reviews the clinical research and application of cognitive train-ing in Alzheimer disease,aiming to provide reference for rational application of cognitive training in Alzheimer disease.
3.The prevalence and related risk factors of hyperuricemia in Bozidum Kinghiz township of Xinjiang Aksu region
Yan ZHONG ; Nasha GU ; Zhengfang LI ; Xue WU ; Mansuer MIKELAYI· ; Yamei SHI ; Cainan LUO ; Xiaomei CHEN ; Qianqian WANG ; Chaohong YUE ; Yun FENG ; Xinyan MENG ; Guoli ZHANG ; Juan DENG ; Jing LI ; Lijun WU
Chinese Journal of Rheumatology 2024;28(5):312-320
Objective:To investigate the prevalence of hyperuricemia (HUA) in Bozidun Kirghiz township of Xinjiang Aksu region, and to explore the risk factors for the occurrence of HUA in the local area.Methods:A cross-sectional survey study was conducted by randomly selecting 9 villages in Bozidun Kirgiz Township by the whole-group sampling method and questionnaire were distributed to the households. The questionnaire included: demographic information, history of past illness, personal history, and all subjects were measured for height, weight, blood pressure, abdominal circumference, etc. The diagnostic of HUA if the serum uric acid (SUA) level >420 μmol/L in men or >360 μmol/L in women. The incidences of HUA in different age, sex, food type and life style behavior were analyzed. T test, non-parametric test and Chi-square test were used to analyze the differences among the groups, and logistic regression was used to analyze the risk factors. Results:①A total of 2 138 subjects were surveyed, among which 68 patients were with HUA, the prevalence of HUA in Bozidun Kirghiz township, Aksu region in the general population was 3.18%(68/2 138); the prevalence rate in men was 4.60%(45/978), 45 patients were identified; and the prevalence rate in women was 1.98%(23/1 160), 23 patients were identified. The peak age of HUA in male and female patients was 51~60 years old. ②The prevalence of HUA was lower in those who consumed dairy products ( χ2=6.91, P=0.017), nuts ( χ2=8.43, P=0.038) and eggs ( χ2=7.38, P=0.023), and lower in those who consumed more. Different intake of cereals ( χ2=0.87, P=0.647), meat( χ2=0.82, P=0.662), vegetables and fruits( χ2=5.22, P=0.073) had no effect on the prevalence of HUA.③In terms of different life behaviors, the prevalence of HUA in men who had been smoking was higher than those who had never smoked (57.78%, 28.89%, 13.33%, χ2=8.16, P=0.017). In the relationship between drinking and HUA, the prevalence rates of male always drinking, ever drinking and never drinking were 80.00%, 11.11% and 3.89%, respectively, the difference was statistically significant ( χ2=6.67, P=0.038). ④Multi-factor logistic regression analysis showed that high BMI, old age, high TG, increased Cr and increased WBC were risk factors for the occurrence of HUA [ OR(95% CI)=1.13(1.04, 1.23), 1.03(1.00,1.05),1.39(1.00, 1.93), 1.03(1.02, 1.05), 1.27(1.07, 1.49), all P<0.05]. Conclusion:The prevalence of HUA in Bozidun Kirgiz township in Aksu prefecture of Xinjiang is lower than that in other areas with continental climate. High BMI, old age, high TG, increased Cr and increased WBC count are risk factors for the development of HUA .
4.Positivity of antinuclear antibody and anti-double-stranded DNA antibody in three ethnic groups in Xinjiang Uygur Autonomous Region
Jiaqi WANG ; Xue WU ; Xinyan MENG ; Xiaomei CHEN ; Cainan LUO ; Zhengfang LI ; Lijun WU
Chinese Journal of Rheumatology 2024;28(8):571-574
Objective:To investigate the positivity rate and high titer of antinuclear antibody (ANA) and anti-dsDNA antibody in healthy Tajik, Kirgiz, and Han Chinese populations in Xinjiang.Methods:A total of 3 687 cases of Tajik residents, 2 140 cases of Kyrgyz residents, and 2 034 cases of Han residents were selected as the study subjects, and ANA and anti-dsDNA antibodies were detected and comparatively analyzed. Data were analyzed using SPSS 22.0 software with χ2 test. Results:The positive rate of ANA in Tajik group was 15.1% [(555/3 687), 10.2%(147/1 445) male, 18.2%(408/2 242) female], of which high titers accounted for 25.8%(143/555). It was 16.7%(357/2 140) in the Kyrgyz group [10.3% male(101/980), 19.4%(256/1 160) female], with high titers accounting for 14.8%; and in the Han group, the positivity rate was 16.6% [9.8%(70/720) male, 19.1%(267/1 314) female], with high titers accounting for 18.4%(62/1 337). There was no significant difference in ANA positivity rate among the three ethnic groups( χ2=3.64, P=0.162), but there were differences in the percentage of high titer of ANA in Tajik ethnic group compared with Han and Kyrgyz ethnic groups(25.8% vs. 18.4%, χ2=6.02, P=0.014; 25.8% vs.14.8%, χ2=14.71, P=0.001), which accounted for a high percentage. The highest number of ANA high titers in all three groups was in the age group of 51~60 years. The ANA karyotype with the highest percentage of high titers in the Tajik and Kyrgyz populations was granular, while it was homogeneous and in the Han it was homogeneous.The positive rate of anti-dsDNA antibody in the Tajik group was 0.71%(26/3 687), of which high titer accounted for 23.1%(6/126); in the Kyrgyz group, it was 0.75%(16/2 034), and high titer accounted for 31.3%(4/14); and in the Han group, the positive rate was 0.69%(14/2 034), of which high titer accounted for 28.6%(4/64), and there was no statistical significance of in the difference in the positive rate of anti-dsDNA antibody and the proportion of high titer among the three groups( χ2=0.06, P=0.972; χ2=0.37, P=0.832). Conclusion:The percentage of ANA and anti-dsDNA antibodies and high titers varied vary among the three ethnic groups in this study, and long-term follow-up is needed to monitor keep an eye on the incidence of autoimmune diseases in people with high autoantibody titers.
5.Modified calcaneal plate combined with suture anchors in treatment of comminuted fracture of split-type greater tuberosity of humerus(Liu-Gang type IV)
Gang LIU ; Baolu ZHANG ; Ruichen LI ; Xiaomei HOU ; Hong LUO ; Canhao LAI ; Qingyuan LI ; Xia LIANG ; Dingsu BAO ; Shijie FU ; Shengqiang ZENG
Chinese Journal of Tissue Engineering Research 2024;28(24):3855-3861
BACKGROUND:Numerous scholars have previously researched certain greater tuberosity fractures and the procedures used to treat them.Few researchers,however,have studied the comminuted split fracture of the greater tuberosity of the humerus(Liu-Gang type IV)with rotator cuff tear in great detail. OBJECTIVE:To compare the clinical therapeutic effect of open repair position modified calcaneal plate combined with suture anchors and proximal humeral internal locking system(PHILOS)plate in the treatment of comminuted fracture of split-type greater tuberosity of humerus combined with rotator cuff tears(Liu-Gang type IV). METHODS:Case data of 30 patients with comminuted fracture of split-type greater tuberosity of humerus combined with rotator cuff tears(Liu-Gang type IV)from May 2012 to May 2022 were retrospectively analyzed.They were divided into the modified calcaneal plate combined with suture anchor group(group A)and the PHILOS with#2 Johnson group(group B),with 15 cases in each group.Intraoperative blood loss,surgical time,and incision length of all patients were recorded.Pain visual analog scale score,Constant-Murley score,as well as shoulder joint abduction,forward flexion,external rotation,and dorsal expansion activities during the last follow-up(>1 year)were evaluated. RESULTS AND CONCLUSION:(1)The surgical incision length and operation time were shorter,and blood loss was less in group A than those in group B(P<0.05).(2)No significant difference in visual analog scale score and Constant-Murley score was detected between the two groups(P>0.05).(3)During the last follow-up,forward flexion in group A was better than that in group B(P<0.05).No significant difference in abduction,external rotation,and dorsal expansion was determined between group A and group B(P>0.05).(4)In terms of complications,there was 1 case of shoulder joint pain and discomfort in group A(7%),2 cases of subacromial impingement syndrome,2 cases of upward movement of nodules,and 2 cases of shoulder joint pain(40%)in group B.There were significant differences in complication rates between the two groups(P=0.031).(5)In summary,the modified calcaneal plate combined with suture anchors in the treatment of comminuted fracture of split-type greater tuberosity of humerus combined with rotator cuff tears(Liu-Gang type IV)could better restore the forward flexion function of the shoulder joint and has a small incision,less blood loss,shorter operation time and fewer complications.
6.Relationship between polymorphism of Visfatin gene rs61330082,rs4730153 and type 2 diabetes mellitus
Zhaker TUNISHAGUL ; Fen LIU ; Junyi LUO ; Qian ZHAO ; Guoli DU ; Xuehe ZHANG ; Xiaomei LI ; Yining YANG
Chinese Journal of Diabetes 2024;32(1):11-15
Objective To evaluate the value of rs61330082 and rs4730153 polymorphisms of Visfatin locus for the diagnosis of type 2 diabetes mellitus(T2DM)in a high-risk population.Methods SNPscanTM high-throughput single nucleotide polymorphism typing technique was used to genotype Visfatin gene loci rs61330082 and rs4730153 in 346 T2DM patients(T2DM group)and 1426 normal controls(NC group).Logistic regression analysis was used to analyze T2DM risk factors.ROC curves were used to analyze the optimal cut-off values of Visfatin gene rs61330082 and rs4730153 for the diagnosis of T2DM.Results The proportion of women,age,obesity,smoking,hypertension,FPG,HbA1c and TG were higher in T2DM group than those in NC group(P<0.01)and HDL-C was lower than in NC group(P<0.01).The frequency of G allele and GG genotype was higher in T2DM group compared with NC group(P<0.05).Logistic regression analysis showed that age,female,obesity,hypertension,TG,and GG genotype at rs4730153 locus were risk factors for T2DM,HDL-C was a protective factor for T2DM.The area under the ROC curve of GG genotype at Visfatin rs4730153 mutation for diagnosis of T2DM was 0.668 and the optimal cut-off point for predicting T2DM was 20.04%,with sensitivity 60.1%and specificity 66.1%,respectively.Conclusion The GG genotype of Visfatin gene rs4730153 locus is associated with the risk of T2DM and can beused as a candidate gene for predicting phenotype of T2DM.
7.Application value of anti-carbamylated protein antibody in the diagnosis of rheuma-toid arthritis
Zhengfang LI ; Cainan LUO ; Lijun WU ; Xue WU ; Xinyan MENG ; Xiaomei CHEN ; Yamei SHI ; Yan ZHONG
Journal of Peking University(Health Sciences) 2024;56(4):729-734
Objective:To investigate the expression level and application value of anti-carbamylated protein(CarP)antibody in rheumatoid arthritis(RA).Methods:Demographic data and laboratory test results of RA patients,non-RA patients and healthy controls in the physical examination center were re-viewed from December 2018 to June 2019 in the Rheumatology and Immunology Department of the Peo-ple's Hospital of Xinjiang Uygur Autonomous Region.The serum concentrations of anti-CarP antibodies in all the subjects were measured by ELISA and statistically analyzed.Results:A total of 259 subjects were included in this study,including 158 in the RA group(45 serum-negative RA patients),59 in the non-RA group and 42 in the healthy control group.The concentration of anti-CarP antibody in RA group[8.31(5.22,15.26)U/mL]was higher than that in non-RA group[4.50(3.35,5.89)U/mL]and healthy control group[3.46(2.76,4.92)U/mL].The concentration of anti-CarP antibody in non-RA group was not significantly different from that in healthy control group(P=0.10).Receiver operating characteristic(ROC)curve analysis showed that the sensitivity of anti-CarP antibody in the diagnosis of RA was 58.2%,and the specificity was 93.1%.The sensitivity of the combined detection of anti-CarP antibody,anti-cyclic peptide containing citrulline(CCP)antibody and rheumatoid factor(RF)was 82.3%,and the specificity was 96.5%.The positive rate of anti-CarP antibody in serum-negative RA patients was 44.4%(20/45).Univariate Logisitic regression analysis showed that age,C-reactive pro-tein(CRP),erythrocyte sedimentation rate(ESR),RF,glucose-6-phosphate isomerase(GPI),anti-CCP antibody and anti-CarP antibody were risk factors for RA.Multivariate Logisitic regression analysis showed that anti-CCP antibody and anti-CarP antibody were independent risk factors for RA.Spearman correlation analysis showed that there was no significant correlation between anti-CarP antibody and swol-len joint count(SJC),tenderness joints count(TJC),ESR,disease activity score for 28 joints(DAS28),clinical disease activity index(CDAI),simplified disease activity index(SDAI).The concentration of anti-CarP antibody in RA with bone erosion(n=88)was higher than that in RA without bone erosion(n=70),and there was significant difference between the two groups(P<0.05).Conclusion:Anti-CarP antibody is an effective serological marker for the diagnosis of RA.The combined detection of RF,anti-CCP antibody and anti-CarP antibody can improve its diagnostic value,and anti-CarP antibody may be an effective assistant diagnostic tool for serum negative RA.The high serum concentration of anti-CarP antibody in patients with RA may indicate an increased risk of bone erosion and should be treated early,but further cohort studies are needed for follow-up observation.
8.A Case Report of Clinical Features Analysis of a Novel IKBKG Variant Leading to Anhidrotic Ectodermal Dysplasia and Immunodeficiency
Xiaomei HUANG ; Ying LUO ; Tingyan HE ; Yongbin XU ; Yu XIA ; Zhi YANG ; Xiaona ZHU ; Yanyan HUANG ; Ruohang WENG ; Jun YANG ; Linlin WANG
JOURNAL OF RARE DISEASES 2024;3(4):492-500
IKBKG is the essential modulator for nuclear factor-κB(NF-κB) signaling pathway, and mutations within this gene can lead to anhidrotic ectodermal dysplasia and immunodeficiency (EDA-ID). Here we report a male patient, who presented with mild frontal bossing, sparse hair, skin pigmentation, conical teeth, and recurrent infections involving bacteria, fungi, and viruses after one month of age, together with hypogammaglobulinemia. These symptoms were consistent with the phenotype of EDA-ID. Genetic analysis revealed a hemizygous mutation c.1249T > G (p.Cys417Gly) in exon 10 of the
9.Effects of advanced platelet-rich fibrin on deep partial-thickness burn wounds in nude mice
Lijun TANG ; Xiaomei LI ; Xiaowei ZHANG ; Yi LUO ; Gang XU
Chinese Journal of Burns 2023;39(8):771-778
Objective:To explore the effects of advanced platelet-rich fibrin (A-PRF) on deep partial-thickness burn wounds in nude mice and its mechanism.Methods:The experimental study method was adopted. Forty healthy volunteers in Subei People's Hospital were recruited, including 32 females and 8 males, aged 60 to 72 years. Leukocyte platelet-rich fibrin (L-PRF) and A-PRF membranes were prepared after venous blood was extracted from them. The microstructure of two kinds of platelet-rich fibrin (PRF) membranes was observed by field emission scanning electron microscope. The number of samples was 3 in the following experiments. The L-PRF and A-PRF membranes were divided into L-PRF group and A-PRF group and cultured, and then the release concentrations of platelet-derived growth factor-AB (PDGF-AB) and vascular endothelial growth factor (VEGF) in culture supernatant were determined by enzyme-linked immunosorbent assay on culture day 1, 3, 7, and 14. Mice L929 fibroblasts (Fbs) were divided into L-PRF group and A-PRF group, and cultured with L-PRF or A-PRF conditioned medium, respectively. On culture day 1, 3, and 7, the cell proliferation activity was detected by thiazole blue method. The cell migration rate was detected and calculated at 24 h after scratching by scratch test. Thirty-six male BALB/c nude mice aged 6-8 weeks were selected to make a deep partial-thickness burn wound on one hind leg, and then divided into normal saline group, L-PRF group, and A-PRF group, according to the random number table, with 12 mice in each group. The wounds of nude mice in normal saline group were only washed by normal saline, while the wounds of nude mice in L-PRF group and A-PRF group were covered with the corresponding membranes in addition. The wounds of nude mice in the 3 groups were all bandaged and fixed with dressings. On treatment day 4, 7, and 14, the wound healing was observed and the wound healing rate was calculated. Masson staining was used to observe the new collagen in wound tissue, and immunohistochemical staining was used to detect the percentage of CD31 positive cells in the wound. Data were statistically analyzed with independent sample t test, analysis of variance for repeated measurement, analysis of variance for factorial design, one-way analysis of variance, and least significant difference test. Results:L-PRF membrane's dense network structure was composed of coarse fibrin bundles, with scattered white blood cells and platelets with complete morphology. A-PRF membrane's loose network structure was composed of fine fibrin bundles, with scattered small amount of deformed white blood cells and platelets. On culture day 1, the release concentration of PDGF-AB in PRF culture supernatant in A-PRF group was significantly higher than that in L-PRF group ( t=5.73, P<0.05), while the release concentrations of VEGF in PRF culture supernatant in the two groups were similar ( P>0.05). On culture day 3, 7, and 14, the release concentrations of PDGF-AB and VEGF in PRF culture supernatant in A-PRF group were significantly higher than those in L-PRF group (with t values of 6.93, 7.45, 5.49, 6.97, 8.97, and 13.64, respectively, P<0.05). On culture day 3, 7, and 14, the release concentrations of PDGF-AB and VEGF in PRF culture supernatant in the two groups were all significantly higher than those in the previous time points within the group ( P<0.05). On culture day 1, 3, and 7, the proliferation activity of mice Fbs in A-PRF group was 0.293±0.034, 0.582±0.054, and 0.775±0.040, respectively, which were significantly stronger than 0.117±0.013, 0.390±0.036, and 0.581±0.037 in L-PRF group (with t values of 8.38, 5.14, and 6.16, respectively, P<0.05). At 24 h after scratching, the migration rate of mice Fbs in A-PRF group was (60.9±2.2)%, which was significantly higher than (39.1±2.3)% in L-PRF group ( t=11.74, P<0.05). On treatment day 4, the wound exudates of nude mice in L-PRF group and A-PRF group were less with no obvious signs of infection, while the wounds of nude mice in normal saline group showed more exudation. On treatment day 7, the wounds of nude mice in L-PRF group and A-PRF group were dry and crusted, while there was still a small amount of exudate in the wounds of nude mice in normal saline group. On treatment day 14, the wounds of nude mice in A-PRF group tended to heal; a small portion of wounds remained in nude mice in L-PRF group; the wound of nude mice was still covered with eschar in normal saline group. On treatment day 4, 7, and 14, the wound healing rate and percentage of CD31 positive cells of nude mice in L-PRF group were all significantly higher than those in normal saline group ( P<0.05); compared with those in normal saline group and L-PRF group, the wound healing rate of nude mice in A-PRF group was significantly increased ( P<0.05), the newborn collagen was orderly and evenly distributed, with no excessive deposition, and the percentage of CD31 positive cells was significantly increased ( P<0.05). Conclusions:The stable fibrin network structure of A-PRF can maintain the sustained release of growth factors, accelerate cell proliferation, and promote cell migration, so as to shorten the healing time and improve the healing quality of deep partial-thickness burn wounds in nude mice.
10.Current status and influencing factors of somatic and psychological symptoms among nursing undergraduate students
Qian GUO ; Yan LUO ; Jing WANG ; Xiaomei LI ; Jinjie HE ; Chengguo GUAN
Chinese Journal of Modern Nursing 2023;29(22):3058-3063
Objective:To explore the current situation and influencing factors of somatic and psychological symptoms among nursing undergraduate students.Methods:This study was a cross-sectional study. Through snowball sampling and convenience sampling, 806 nursing undergraduate students from East, South, Central, North, Northwest and Southwest China were selected as the research subjects from March to July 2021. A survey was conducted among nursing undergraduate students using the Patient Health Questionnaire-15 (PHQ-15), Patient Health Questionnaire-2 (PHQ-2), and Generalized Anxiety Disorder-2 (GAD-2) .Results:The positive detection rates of somatic symptoms, depression, and anxiety among 806 nursing undergraduate students were 66.5% (536/806), 14.3% (115/806), and 12.9% (104/806), respectively. The results of binomial Logistic regression analysis showed that chronic diseases, perceived health status, and water intake were the influencing factors for psychological and somatic symptoms of nursing undergraduate students ( P<0.05). Nursing undergraduate students' somatic symptoms, depression and anxiety were positively correlated ( P<0.05) . Conclusions:The detection rate of somatic symptoms among nursing undergraduate students is high. Families and universities should pay timely attention to the psychological and somatic health of nursing undergraduate students, and provide targeted psychological support for students with different characteristics.

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