Objective: To perform serological identification and molecular analysis of four samples with antibodies against high-frequency antigens, and to track the condition of newborns after delivery. Methods: Blood group serological tests were conducted using tube method, and unexpected antibody screening and identification were performed using polybrene and human globulin card. Gene haplotype analysis of blood group system was performed using PacBio third-generation sequencing. The DNA mutations were confirmed through Sanger sequencing. Results: Four samples showed normal blood types in common blood type systems. However, they were positive in all unexpected antibody screening and identification, with negative direct antiglobulin tests results. Third-generation sequencing revealed 3 cases of c.376C>T homozygous mutation and 1 case of c.421C>A homozygous mutation in the ABCG2 gene. Three pregnant women gave birth to four children, all of whom developed hyperbilirubinemia, accompanied by decreased red blood cell count and normal or low hemoglobin concentration. Conclusion: Four samples were obtained from individuals with the rare Jr(a-) blood group. Immunization during pregnancy led to the production of anti-Jr antibody, which may contribute to hyperbilirubinemia in newborns.

[Objective]To investigate the genetic polymorphism of 42 short tandem repeats(STRs),including 41 non-CODIS loci from the Shenzhen Han population and evaluate their potential values in forensic application.[Methods]In our research,the AGCU 21+1 STR kit and Microreader? 23sp Direct ID System were applied to analyze the polymorphism of STR loci from 435 unrelated individuals of Shenzhen Han population.Modified-Powerstates and Arlequin v3.5 software were used to analyze the allele frequencies and forensic parameters,and perform the Hardy-Weinberg equilibrium test.[Results]A total of 418 alleles were detected from 435 unrelated individuals in Shenzhen,all consistent with Hardy-Weinberg equilibrium(P>0.05/42),with the allele frequency ranging from 0.001 1 to 0.552 9.Besides,the discrimination power(DP)ranged from 0.798 8(D1S1627)to 0.968 6(D7S3048),the polymorphic information content(PIC)ranged from 0.568 0(D1S1627)to 0.859 8(D7S3048),and the heterozygosity(H)ranged from 0.627 6(D1S1627)to 0.878 2(D20S470).Among all the STRs tested in the study,both D1S1656 and D21S1270 have 16 alleles and show the highest polymorphism.In comparison,only five alleles were observed in the D4S2408 locus,which displays the least polymorphism.[Conclusions]The 42 autosomal STR loci with high genetic polymorphism in Shenzhen Han population showed potential as an effective means for individual identification and paternity testing,especially in the cases with single parent or mutation detected.The obtained information can provide basic data for STR population genetics.

Objective:To investigate the application of 3.0T high resolution magnetic resonance imaging(HR-MRI)in acute ischemic stroke(AIS)and the influence factors of prognosis.Methods:A total of 92 AIS patients who underwent treatment in Hainan General Hospital from January 2019 to June 2022 were selected as the research objects.All patients were treated by thrombolytic therapy,and they were divided into favorable prognosis group(mRS scores≤2 points,n=66)and poor prognosis group(mRS score>2 points,n=26)according to modified Rankin Scale after they received 90d treatment.All of patients underwent Magnetom Trio type of 3.0 T HR-MRI examination within 1 week after they hospitalized,and the changes of luminal stenosis rate,the luminal area at the narrowest point,the plaque load,T2WIsignal intensity index,T1WI signal intensity index,plaque enhancement rate and other parameters were compared.The receiver operating characteristics(ROC)curve was adopted to analyze the predictive value of 3.0T HR-MRI parameters on the AIS prognosis.Binary Logistic regression model was used to analyze the risk factors that affected the prognosis of AIS patients.Results:The difference of infarction diameter between two groups was statistically significant(x2=6.574,P<0.05).The lumen area at the narrowest point in the poor prognosis group was significantly lower than that in the favorable prognosis group,while the T2WI signal intensity index,T1WI signal intensity index and plaque enhancement rate in the poor prognosis group were significantly higher than those in the favorable prognosis group(t=-3.378,4.443,4.413,3.890,P<0.05),respectively.ROC curve analysis showed that the area under curve(AUC)values of T2WI signal intensity index,T1WI signal intensity index,lumen area at the narrowest point and plaque enhancement rate in predicting the AIS prognosis were respectively 0.743,0.739,0.706 and 0.748.The Logistic regression analysis showed that infarction diameter>3.0cm,T1WI signal intensity index,T2WI signal intensity index,lumen area at the narrowest point and plaque enhancement rate were respectively independent risk factors that could affect AIS prognosis(OR=3.889,257.151,105.073,4.091,1.121,P<0.05).Conclusion:3.0T HR-MRI has higher efficiency in the assessment for the prognosis of patients with AIS,which can provide guidance for the judgement of prognosis and the formulation of treatment scheme through observes the changes of a series of parameters include T2WI signal strength index,T1WI signal strength index,the lumen area at the narrowest point,plaque enhancement rate.The above parameters are risk factors that affect the prognosis of patients,which often represent the progress of patients'conditions.

Objective:To investigate the association between baseline hemoglobin level and early neurologic deterioration(END)after intravenous thrombolysis in patients with acute ischemic stroke(AIS).Methods:Data of AIS patients who received intravenous thrombolytic therapy at multiple hospitals across the country between January 2017 and July 2020 were collected from the online database Acute Stroke Patients for Stroke Management Quality Evaluation(CASE-Ⅱ,NCT04487340).Binary logistic regression analysis was used to study the factors affecting the occurrence of END after intravenous thrombolytic therapy,and the correlation between baseline hemoglobin level and END was investigated by limiting cubic spline curve analysis.Results:A total of 8162 patients were included.Patients with END had lower baseline hemoglobin levels(136 and 140 g/L,P<0.01)and higher rates of anemia(24.2%and 16.9%,P<0.01)compared with non-END patients.Binary logistic regression analysis showed that baseline hemoglobin level(OR=0.995,95%CI:0.991-0.999,P<0.05)and anemia(OR=1.238,95%CI:1.055-1.454,P<0.01)were independently correlated with the occurrence of END after intravenous thrombolysis in AIS patients.Restricted cubic spline regression showed that there was a U-shaped relationship between hemoglobin level and the risk of END after intravenous thrombolysis in AIS patients(P<0.01),although this relationship was only significant in male patients(P<0.05)and not in female patients(P>0.05).Conclusion:There is a correlation between baseline hemoglobin level and the risk of END in AIS patients after intravenous thrombolysis,especially in male patients,in whom both lower and higher hemoglobin level may increase the risk of END.

【Objective】 To study the concordance of identifying the presence or absence of KIR genes using flow reverse sequence-specific oligonucleotide probe (Flow-rSSO) hybridization and sequencing based typing-PCR (PCR-SBT) methods. 【Methods】 A total number of 131 cases of DNA samples from Han population were subjected to identify the presence or absence of all 16 KIR genes by Flow-rSSO method, and then sequenced at coding sequence for all 14 functional KIR genes using our in-house KIR PCR-SBT assay. The concordance of identifying the presence or absence of all functional KIR genes by Flow-rSSO and PCR-SBT was analyzed. Samples with inconsistent initial results were re-tested using the Flow-rSSO commercial kits with different Lot number, and further tested using the PCR-SSP commercial kit. 【Results】 The presence or absence of 14 functional KIR genes for 129 of 131 samples were completely in accordance via the PCR-SBT and Flow-rSSO methods. Two samples, one with 3DL1 negative, the other with both 2DS3 and 2DS5 negative initially-identified by Flow-rSSO, were actually all positive tested by PCR-SBT. Further retest by Flow-rSSO commercial kits with different Lot number and PCR-SSP commercial kit indicated that the two samples were all positive, which agreed well with PCR-SBT results. 【Conclusion】 In this paper, the initial test results of the presence or absence of KIR genes identified by Flow-rSSO for 2 samples were wrong, which indicated the importance of carrying out the quality control for reagents in KIR gene testing.

Objective:To investigate the clinical efficacy of proximal femoral nail anti-rotation (PFNA) assisted by the "3-2-1" surface positioning method in the treatment of femoral subtrochanteric fractures.Methods:A total of 97 patients with subtrochanteric fractures admitted to the Second Hospital of Fuzhou from January 2015 to December 2020 were retrospectively analyzed. They were divided into two groups according to whether the "3-2-1" surface positioning method (3 longitudinal axes, 2 preset incisions, and 1 auxiliary incision) was used. There were 44 patients in the surface positioning group, including 25 males and 19 females, aged 61.59±18.43 years (range, 22-90 years). According to the Seinsheimer classification, there were 13 cases of type II, 11 cases of type III, 6 cases of type IV, and 14 cases of type V. The mechanism of injury was low energy injury in 26 cases and high energy injury in 18 cases. There were 53 patients in the traditional positioning group, including 30 males and 20 females, aged 56.38±17.24 years (range, 24-90 years). According to the Seinsheimer classification, there were 9 cases of type II, 22 cases of type III, 9 cases of type IV, and 13 cases of type V. According to the mechanism of injury, there were 30 cases of low energy injury and 23 cases of high energy injury. The length of incision, operation time, and blood loss were recorded. At 1, 3, 6, and 12 months after operation, the anteroposterior and lateral X-ray films of the hip were taken to evaluate the imaging indicators (neck-shaft angle, anteroposterior and lateral displacement, and angulation), fracture healing, and complications (infection, malunion, loosening and breakage of the internal fixation, and periprosthetic fracture). The Harris hip score and EuroQol five dimensions questionnaire (EQ-5D) were evaluated.Results:All patients successfully completed the operation and were followed up for 15.12±1.54 months (range, 12-18 months). The operation time, incision length, dominant blood loss and hidden blood loss in the surface positioning group were 1.78(1.50, 2.00) h, 8(8, 9) cm, 300(200, 400) ml and 843(629, 1 130) ml, respectively, which were less than 2.10(1.69, 2.38) h, 10(9, 12) cm, 400(300, 500) ml and 1 030(954, 1 266) ml in the traditional positioning group, and the difference was statistically significant ( P<0.05). The neck-shaft angle in the surface positioning group was 135.54°±2.83°, which was larger than 132.33°±3.37° in the traditional positioning group, and the difference was statistically significant ( t=5.02, P<0.001). The anterolateral and lateral displacement and lateral image angle in the surface positioning group were 4.70±1.60 cm, 4.52±1.71 cm and 9.36°±2.94°, respectively, which were lower than 6.14±2.57 cm, 5.98±2.70 cm and 11.46°±4.68° in the traditional positioning group, and the difference was statistically significant ( P<0.05). One year after operation, the Harris hip score and EQ-5D score of the surface positioning group were 92(84, 99) points and 0.90(0.73, 1.00) points, respectively, which were higher than 88(74, 96) points and 0.81(0.72, 0.94) points of the traditional positioning group ( P<0.05). Conclusion:The "3-2-1" surface positioning method assisted PFNA internal fixation in the treatment of femoral subtrochanteric fracture can improve the quality of reduction, reduce intraoperative blood loss, and improve hip function and quality of life.

Oxidative stress, due to the disruption of the balance between reactive oxygen species (ROS) generation and the antioxidant defense system, plays an important role in the pathogenesis of rheumatoid arthritis (RA). Excessive ROS leads to the loss of biological molecules and cellular functions, release of many inflammatory mediators, stimulate the polarization of macrophages, and aggravate the inflammatory response, thus promoting osteoclasts and bone damage. Therefore, foreign antioxidants would effectively treat RA. Herein, ultrasmall iron-quercetin natural coordination nanoparticles (Fe-Qur NCNs) with excellent anti-inflammatory and antioxidant properties were constructed to effectively treat RA. Fe-Qur NCNs obtained by simple mixing retain the inherent ability to remove ROS of quercetin and have a better water-solubility and biocompatibility. In vitro experiments showed that Fe-Qur NCNs could effectively remove excess ROS, avoid cell apoptosis, and inhibit the polarization of inflammatory macrophages by reducing the activation of the nuclear factor-κ-gene binding (NF-κB) pathways. In vivo experiments showed that the swollen joints of mice with rheumatoid arthritis treated with Fe-Qur NCNs significantly improved, with Fe-Qur NCNs largely reducing inflammatory cell infiltration, increasing anti-inflammatory macrophage phenotypes, and thus inhibiting osteoclasts, which led to bone erosion. This study demonstrated that the new metal-natural coordination nanoparticles could be an effective therapeutic agent for the prevention of RA and other diseases associated with oxidative stress.

Objective:To investigate the biomechanical properties of cannulated screws fixation in a configuration of "axial compression and lateral buttress" in the treatment of Pauwels type Ⅱ femoral neck fractures.Methods:Ten specimens of Sawbones artificial femur were first made into models of type Ⅱ femoral neck fracture with a Pauwells angle of 50° and then randomized into 2 equal groups ( n=5). The specimens in the experimental group were subjected to fixation with cannulated screws in a configuration of "axial compression and lateral buttress" in which the axial screw was 8.5 mm in diameter and the lateral screw 6.5 mm in diameter. The specimens in the control group were subjected to conventional fixation with cannulated screws in a configuration of "inverted triangle and parallel compression" in which the 3 screws was 7.3 mm in diameter. Finally, the specimens were placed onto a biomechanical testing machine to determine the parameters of static axial stiffness, displacement under 60 to 600 N load for 5,000 cycles, ultimate load and ultimate stiffness in turn. The 2 groups were compared to find out their differences. Results:The static axial stiffness was (1,492.00 ± 87.86) N/mm, significantly higher than that in the control group [(1,200.22 ± 228.06) N/mm] ( P<0.05). There was no significant difference between the 2 groups in the cyclic load displacement [(0.44 ± 0.01) mm versus (0.57 ± 0.17) mm] ( P>0.05), but the experimental group showed a lower trend. The ultimate load and ultimate stiffness were (4,292.61 ± 804.29) N and (1,623.55 ± 180.94) N/mm in the experimental group and (4,383.64 ± 1,423.24) N and (1,433.77 ± 289.93) N/mm in the control group, showing no significant difference between the 2 groups ( P>0.05). Conclusion:In the treatment of Pauwels type Ⅱ femoral neck fractures, fixation with cannulated screws in a configuration of "axial compression and lateral buttress" may exhibit better biomechanical properties than that in a conventional configuration of "inverted triangle" .

Background::The CHA 2DS 2–VASc score was initially applied to stratify stroke risk in patients with atrial fibrillation (AF) and was found to be effective in predicting all-cause mortality outcomes. To date, it is still unclear whether circulating long non-coding RNAs (lncRNAs) as emerging biomarkers, can improve the predictive power of the CHA 2DS 2–VASc score in stroke and all-cause mortality. Methods::Candidate lncRNAs were screened by searching the literature and analyzing previous RNA sequencing results. After preliminary verification in 29 patients with AF, the final selected lncRNAs were evaluated by Cox proportional hazards regression in 192 patients to determine whether their relative expression levels were associated with stroke and all-cause mortality. The c-statistic, net reclassification improvement (NRI), and integrated discrimination improvement of the patients were calculated to evaluate the discrimination and reclassification power for stroke and all-cause mortality when adding lncRNA expression levels to the CHA 2DS 2–VASc score model. Results::Five plasma lncRNAs associated with stroke and all-cause mortality in AF patients were selected in our screening process. Patients with elevated H19 levels were found to have a higher risk of stroke (hazard ratio [HR] 3.264, 95% confidence interval [CI]: 1.364–7.813, P = 0.008). Adding the H19 expression level to the CHA 2DS 2–VASc score significantly improved the discrimination and reclassification power of the CHA 2DS 2–VASc score for stroke in AF patients. In addition, the H19 level showed a marginally significant association with all-cause mortality (HR 2.263, 95% CI: 0.889–5.760, P = 0.087), although it appeared to have no significant improvement for the CHA 2DS 2–VASc model for predicting all-cause mortality. Conclusions::Plasma expression of H19 was associated with stroke risk in AF patients and improved the discriminatory power of the CHA 2DS 2–VASc score. Therefore, lncRNA H19 served as an emerging non-invasive biomarker for stroke risk prediction in patients with AF.

OBJECTIVE: To delineate the characteristics of a novel HLA-DQB1 allele identified during routine HLA matching in a leukemia family. METHODS: The mother and brother of the patient were subjected to PCR sequence-specific oligonucleotide probe (SSOP), PCR sequence-based typ1ing (SBT), as well as next-generation sequencing (NGS). RESULTS: PCR-SBT revealed that the patient's mother and brother's HLA-DQB1 sequences did not fully match with any known allele combination. NGS revealed that the novel allele has differed from the closest matched DQB1*03:02 with a T>G substitution at position 233 in exon 2, which resulted in substitution of Valine at codon 46 by Glycine. Pedigree analysis confirmed that the novel HLA-DQB1 allele was inherited from his mother. CONCLUSION A novel HLA-DQB1 allele has been identified through next generation sequencing and was officially named as HLA-DQB1*03:362 by the World Health Organization HLA Factor Nomenclature Committee.
Alleles ; Base Sequence ; HLA-DQ beta-Chains/genetics* ; Humans ; Male ; Nucleotides ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA