Objective:To evaluate the early and mid-term efficacy of physician-modified fenestrated endovascular repair combined with inner branch techniques for aortic pathologies complicated by aberrant subclavian artery (ASA).Methods:A retrospective case series was conducted, including 24 patients with ASA-associated aortic pathologies who underwent thoracic endovascular aortic repair (TEVAR) with physician-modified fenestration and inner branch reconstruction at 7 centers in China from February 2021 to March 2025. The cohort comprised 18 males and 6 females, with an age of (54.4±11.7) years (range:37 to 80 years). Pathological diagnoses included aortic aneurysm in 7 patients (29.2%), aortic dissection in 11 (45.8%; 6 chronic, 4 subacute, 1 acute), and penetrating aortic ulcer in 6 (25.0%; 3 with concomitant intramural hematoma). Preoperative planning was performed using three-dimensional CT angiographic reconstruction, incorporating both the greater-curvature hemodynamic length and the centerline wall-adherent length. Fenestration sites were verified on three-dimensional printed models, and precise fenestrations were created at the covered stent-graft locations corresponding to the subclavian artery and ASA anatomy. Patients subsequently underwent TEVAR combined with supra-aortic revascularization as indicated, followed by completion ascending aortography to evaluate the sealing of the main stent-graft and the patency of fenestrated or branched stents. Perioperative outcomes, complications, and early-to mid-term clinical efficacy were analyzed.Results:All procedures were technically successful. Immediate angiography identified one case of minor type Ⅳ endoleak that resolved spontaneously on 3-month follow-up CT angiography, and one case of mild type Ⅱ endoleak that was left untreated with a stable false lumen during follow-up. One patient died on postoperative day 7 of an undetermined cause. The mean follow-up period was (23.1±11.3)months (range:3 to 37 months). During follow-up, one patient developed mild bilateral lower-limb weakness 1 month after surgery. Vascular occlusion and spinal cord infarction were excluded, and the symptoms were considered related to postoperative spinal hemodynamic changes; the weakness resolved after blood pressure adjustment without recurrence. No other complications, including upper limb ischemia, spinal cord ischemia, or posterior circulation ischemia, were observed. Throughout follow-up, all branch and main stents remained patent with good structural integrity, without migration or device-related complications.Conclusions:Physician-modified fenestration combined with inner branch techniques for ASA-associated aortic pathologies is technically feasible and yields satisfactory early and mid-term results. Long-term outcomes require further follow-up.

The proband was a 32-year-old female patient who sought medical attention for over 9 months of pregnancy, reduced fetal movement, and discomfort in the lower abdomen. The proband and her father had normal activated partial thromboplastin time and prothrombin time, decreased fibrinogen activity and antigen levels, and prolonged thrombin time, whereas the test results of her mother were normal. Ultrasonography showed intermuscular vein thrombosis in the left calf of the proband. Peripheral blood DNA was extracted from the proband and her parents, and Sanger sequencing was performed to detect the base sequences of the FGA, FGB, and FGG genes. The proband and her father had heterozygous missense mutations in exon 6 c.615A > C (p. Leu205Phe) and exon 8 c.1121A > C (p. Tyr374Ser) of the FGG gene. Bioinformatics analysis suggested that the two gene mutations may be the pathogenic mechanism of this congenital hypodysfibrinogenemia family.

Objective:To construct an evaluation index system for rural order-oriented general practice residents based on Entrustable Professional Activities (EPAs) and conduct an empirical analysis. ?Methods:A mixed-methods study design was adopted (November 2022-April 2023). The preliminary draft of the index system was developed through literature review and group discussions, then refined and improved via two rounds of expert consultation using the Delphi method. The analytic hierarchy process (AHP) was applied to determine the weight of each index. Meanwhile, questionnaires were distributed to 181 participants, including general practitioners from general hospitals, general practitioners from community hospitals, and general practice residents. The scores of the three groups regarding the importance and feasibility of the indices were compared. Ten general practitioners of the above three types were selected for semi-structured interviews on their cognitive and practical aspects of the system. ?Results:The positive coefficients of the two rounds of expert consultation were 16/17 and 16/16, respectively. The expert authority degree was >0.70, and the test of coordination coefficient was statistically significant ( P<0.05). Finally, an index system consisting of 20 first-level indices and 56 second-level indices was established. In terms of weight, among the first-level indices,"EPA1: Information Acquisition"had the highest weight (0.11), while"EPA12: Clinical Research"had the lowest (0.02). Among the second-level indices, "Medical History Taking" and "Physical Examination" under EPA1 had the highest weight (both 0.056), while "Healthcare for Patients with Severe Mental Illness" and "Healthcare for Disabled and Handicapped Populations" under EPA15 had the lowest (both 0.003). The 181 participants gave scores ranging from 4.49 to 4.92 for the importance of the 20 first-level indices and from 4.16 to 4.81 for their feasibility. Only for" EPA19: Common Diseases in Primary Care and Health Management", the feasibility score given by general practitioners from community hospitals was higher than that from general hospitals ( t=2.157, P=0.032); no statistically significant differences were observed among the groups for the other indices ( P>0.05).The interview results showed that general practitioners have a relatively high level of recognition for this system, but there is still room for improvement in its practical application.? Conclusions:The evaluation index system for rural order-oriented general practice residents constructed based on EPAs has high reliability, and it is consistently recognized by different types of general practitioners. It can provide a reference for the cultivation of post competency of this group.?

Objective To investigate the plaque characteristics evaluated by intravascular ultrasound(IVUS)in perimenopausal women with coronary artery disease(CAD)and their impacts on the outcomes of stent implantation.Methods A total of 169 female CAD patients who were admitted to the Fourth People's Hospital of Langfang City from March 2021 to March 2023 were selected as research objects.All the patients underwent coronary angiography(CAG)and IVUS to identify plaque characteristics.Based on the plaque stability,the patients were assigned to stable plaque group(n=105)or unstable plaque group(n=64).Clinical data,IVUS parameters,coronary stent placement,and the incidence of major adverse cardiac events(MACE)were compared between the two groups.Results The plaque burden in the unstable plaque group was higher than that in the stable plaque group,while the minimal lumen area in the unstable plaque group was lower than that in the stable plaque group(P<0.05).The incidences of thrombosis,plaque rupture,and calcification in the unstable plaque group were higher than those in the stable plaque group(P<0.05).The stent placement rate and achievement rate in the unstable plaque group were higher than those in the stable plaque group(P<0.05).Kaplan-Meier survival analysis showed that the incidence of MACE in the unstable plaque group was significantly higher than that in the stable plaque group(HR=2.257,95%CI:1.184-4.303,log-rank P=0.007).Conclusion IVUS shows high value in evaluating plaque characteristics in perimenopausal women with CAD.It can be used as an important tool to optimize treatment strategies.

The proband was a 32-year-old female patient who sought medical attention for over 9 months of pregnancy, reduced fetal movement, and discomfort in the lower abdomen. The proband and her father had normal activated partial thromboplastin time and prothrombin time, decreased fibrinogen activity and antigen levels, and prolonged thrombin time, whereas the test results of her mother were normal. Ultrasonography showed intermuscular vein thrombosis in the left calf of the proband. Peripheral blood DNA was extracted from the proband and her parents, and Sanger sequencing was performed to detect the base sequences of the FGA, FGB, and FGG genes. The proband and her father had heterozygous missense mutations in exon 6 c.615A > C (p. Leu205Phe) and exon 8 c.1121A > C (p. Tyr374Ser) of the FGG gene. Bioinformatics analysis suggested that the two gene mutations may be the pathogenic mechanism of this congenital hypodysfibrinogenemia family.

Objective:To construct an evaluation index system for rural order-oriented general practice residents based on Entrustable Professional Activities (EPAs) and conduct an empirical analysis. ?Methods:A mixed-methods study design was adopted (November 2022-April 2023). The preliminary draft of the index system was developed through literature review and group discussions, then refined and improved via two rounds of expert consultation using the Delphi method. The analytic hierarchy process (AHP) was applied to determine the weight of each index. Meanwhile, questionnaires were distributed to 181 participants, including general practitioners from general hospitals, general practitioners from community hospitals, and general practice residents. The scores of the three groups regarding the importance and feasibility of the indices were compared. Ten general practitioners of the above three types were selected for semi-structured interviews on their cognitive and practical aspects of the system. ?Results:The positive coefficients of the two rounds of expert consultation were 16/17 and 16/16, respectively. The expert authority degree was >0.70, and the test of coordination coefficient was statistically significant ( P<0.05). Finally, an index system consisting of 20 first-level indices and 56 second-level indices was established. In terms of weight, among the first-level indices,"EPA1: Information Acquisition"had the highest weight (0.11), while"EPA12: Clinical Research"had the lowest (0.02). Among the second-level indices, "Medical History Taking" and "Physical Examination" under EPA1 had the highest weight (both 0.056), while "Healthcare for Patients with Severe Mental Illness" and "Healthcare for Disabled and Handicapped Populations" under EPA15 had the lowest (both 0.003). The 181 participants gave scores ranging from 4.49 to 4.92 for the importance of the 20 first-level indices and from 4.16 to 4.81 for their feasibility. Only for" EPA19: Common Diseases in Primary Care and Health Management", the feasibility score given by general practitioners from community hospitals was higher than that from general hospitals ( t=2.157, P=0.032); no statistically significant differences were observed among the groups for the other indices ( P>0.05).The interview results showed that general practitioners have a relatively high level of recognition for this system, but there is still room for improvement in its practical application.? Conclusions:The evaluation index system for rural order-oriented general practice residents constructed based on EPAs has high reliability, and it is consistently recognized by different types of general practitioners. It can provide a reference for the cultivation of post competency of this group.?

Objective:To evaluate the early and mid-term efficacy of physician-modified fenestrated endovascular repair combined with inner branch techniques for aortic pathologies complicated by aberrant subclavian artery (ASA).Methods:A retrospective case series was conducted, including 24 patients with ASA-associated aortic pathologies who underwent thoracic endovascular aortic repair (TEVAR) with physician-modified fenestration and inner branch reconstruction at 7 centers in China from February 2021 to March 2025. The cohort comprised 18 males and 6 females, with an age of (54.4±11.7) years (range:37 to 80 years). Pathological diagnoses included aortic aneurysm in 7 patients (29.2%), aortic dissection in 11 (45.8%; 6 chronic, 4 subacute, 1 acute), and penetrating aortic ulcer in 6 (25.0%; 3 with concomitant intramural hematoma). Preoperative planning was performed using three-dimensional CT angiographic reconstruction, incorporating both the greater-curvature hemodynamic length and the centerline wall-adherent length. Fenestration sites were verified on three-dimensional printed models, and precise fenestrations were created at the covered stent-graft locations corresponding to the subclavian artery and ASA anatomy. Patients subsequently underwent TEVAR combined with supra-aortic revascularization as indicated, followed by completion ascending aortography to evaluate the sealing of the main stent-graft and the patency of fenestrated or branched stents. Perioperative outcomes, complications, and early-to mid-term clinical efficacy were analyzed.Results:All procedures were technically successful. Immediate angiography identified one case of minor type Ⅳ endoleak that resolved spontaneously on 3-month follow-up CT angiography, and one case of mild type Ⅱ endoleak that was left untreated with a stable false lumen during follow-up. One patient died on postoperative day 7 of an undetermined cause. The mean follow-up period was (23.1±11.3)months (range:3 to 37 months). During follow-up, one patient developed mild bilateral lower-limb weakness 1 month after surgery. Vascular occlusion and spinal cord infarction were excluded, and the symptoms were considered related to postoperative spinal hemodynamic changes; the weakness resolved after blood pressure adjustment without recurrence. No other complications, including upper limb ischemia, spinal cord ischemia, or posterior circulation ischemia, were observed. Throughout follow-up, all branch and main stents remained patent with good structural integrity, without migration or device-related complications.Conclusions:Physician-modified fenestration combined with inner branch techniques for ASA-associated aortic pathologies is technically feasible and yields satisfactory early and mid-term results. Long-term outcomes require further follow-up.

Objective:The phenotype and genotype of a pedigree with Glanzmann thrombasthenia caused by compound heterozygous mutation in the ITGA2B gene and its molecular pathogenesis were explored.Methods:The platelet aggregation rate of the proband and his family was detected by using a platelet aggregation test with adenosine diphosphate, collagen, epinephrine, arachidonic acid, and ristocetin. The expression levels of CD41 (αⅡb), CD61 (β3), and CD42b (GPⅠb) on the platelet surface was detected by flow cytometry. Gene sequencing technology was used for the genetic identification of the family. RT-PCR was used in the detection of mRNA splicing, and qRT-PCR was used in detecting the relative mRNA level of the ITGA2B gene. Bioinformatics analysis was used to evaluate the pathogenicity of mutation sites and their effects on protein structure and function. The expressions of total αⅡb and β3 in platelets were analyzed by Western blot.Results:Except ristocetin, the other four inducers could not induce platelet aggregation in the proband. Flow cytometry showed that the expression levels of αⅡb and β3 were only 0.25% and 9.76%, respectively, on the platelet surface of the proband, whereas GPⅠb expression was relatively normal. The expression levels of glycoproteins in the other family members were almost normal. c.480C>G and c.2929C>T mutations were detected in the proband through gene sequencing. The c.480C>G mutation was inherited from his mother, and the c.2929C>T mutation was inherited from his father. The RT-PCR and sequencing results showed that the c.480C>G mutation caused mRNA splicing in the proband and his mother, resulting in the deletion of 99 bases in c.476G-574A (p.S160-S192). qRT-PCR showed that the c.2929C>T variant reduced the mRNA level of the ITGA2B gene in the proband and his father. Bioinformatics analysis suggested that the c.480C>G mutation might form a binding sequence with hnRNP A1 protein and generate the 5′SS splice site. The three-dimensional structural model of the αⅡb subunit showed that the β-propeller domain of the p.S160-S192 deletion lost two β-strands and one α-helix in blade 2. The c.2929C>T nonsense mutation caused premature translation termination and produced a truncated protein with the deletion of p.R977-E1039, including the cytoplasmic domain, transmembrane domain, and a β chain of the extracellular Calf-2 domain. The total αⅡb expression of the proband was absent, and the relative expression of β3 was 11.36% of the normal level.Conclusion:The compound heterozygous mutation c.480C>G in exon 4 and c.2929C>T in exon 28 of the ITGA2B gene probably underlies Glanzmann thrombasthenia in this pedigree.

Objective:To analyze the F10 gene mutations in a Chinese pedigree affected with the deficiency of the hereditary coagulation factor X (FX), resulting from a new deletion mutation, and to study the associated molecular pathogenesis.Methods:Next generation sequencing (NGS) was performed to screen the genetic mutations in the proband which were then verified by Sanger sequencing. The FX activity (FX∶C) of probands and their family members was detected using the blood clotting method, and the mutation sites of the family members were analyzed using Sanger sequencing. The pathogenicity of the mutation site was predicted by using the online bioinformatics software, Mutation Taster. The SWISS-MODEL software was used for stimulating the three-dimensional models of the wild-type and mutant proteins for analyzing the influence of the mutation site on the structure and function of the proteins, and for analyzing the difference between the catalytic residues of the wild-type and the mutant proteins. The level of the F10 gene mRNA was quantitatively analyzed by qRT-PCR (quantitative reverse transcription polymerase chain reaction) method by constructing plasmids, transfecting human embryonic kidney 293T cells (HEK 293T), and analyzing the splicing of the mutated site by RT-PCR method. The levels of FⅩ∶Ag in cell lysates and cell culture media (both inside and outside the cells) were detected by the ELISA (enzyme linked immunosorbent assay) method.Results:A medium-grade factor X deficiency with a 36.42% FⅩ∶C ratio was detected in the proband by the coagulation method. NGS analysis demonstrated a heterozygous deletion mutation in exon 8:c.902_919del (p.Ala301_Glu306del) in the proband. Sanger sequencing analysis indicated that some members of the family (mother and grandfather) were also carriers of the corresponding deletion mutation. Online bioinformatics software predicted the pathogenic nature of the c.902_919del mutation, with a pathogenic score of 0.999. The 3D protein structure model analysis indicated that the c.902_919del mutation resulted in the disappearance of a segment of β-fold in the protein structure, thereby shortening the preceding segment of the β-fold and a subsequent loss of hydrogen bonds between adjacent amino acids with no significant difference in the side chain conformation of the key catalytic residues compared to the wild-type. mRNA splicing analysis indicated the absence of alternative splicing changes in the mutation, and qRT-PCR results indicated the absence of a statistically significant difference between the mRNA levels of F10 gene and wild-type mRNA in cells expressing c.902_919del mutant. The ELISA results indicated that there was no statistically significant difference in the FX∶Ag levels of the mutant cell culture medium and the lysate.Conclusions:In this pedigree, the heterozygous mutation in exon 8 of F10 gene (c.902_919del, p.Ala301_Glu306del) caused the hereditary factor Ⅹ deficiency.

【Objective】 To compare the supply data of red blood cells(RBCs) from 18 blood centers in China before and after the outbreak of COVID-19 during 2018 to 2021. 【Methods】 Eight indicators related to RBCs supply from 18 blood centers in China during 2018-2021 were collected retrospectively, including the storage of total amount of qualified RBCs (referred to as the total amount of storage), the distribution of total amount of RBCs (referred to as the total amount of distribution), the distribution amount of RBCs per 1 000 population (referred to as the amount of distribution per 1 000 population), the distribution amount of RBCs from 400 mL original blood per 1 000 population [referred to as the amount of distribution per 1 000 population (400 mL)], the average daily distribution amount of RBCs (referred to as the average daily distribution amount), the average daily storage amount of RBCs (referred to as the average daily storage amount), the average storage days of RBCs when distribute (referred to as the RBC storage days), and the expired amount of RBCs (referred to as the expired amount). Based on the outbreak time of COVID-19, the data of 2018 and 2019 were the pre-pandemic group, and the data of 2020 and 2021 were the post-pandemic group. 【Results】 Data on RBCs supply in 18 blood centers from 2018 to 2021(comparison of the pre-pandemic group and the post-pandemic group): the amount of distribution per 1 000 population (median 14.68 U>13.92 U) decreased, the amount of distribution per 1 000 population (400 mL) (median 10.16 U>9.21 U) decreased, and the difference was statistically significant (P<0.05); data comparison between 2019 and 2020:the total amount of distribution (median 117 770.38 U>99 084.08 U) decreased, the amount of distribution per 1 000 population (median 15.04 U>12.19 U) decreased, the amount of distribution per 1000 population (400 mL) (median 10.11 U>8.94 U), the average daily distribution amount(322.66 U>270.73 U) decreased and RBC storage days (median 10.50 d<11.45 d) increased, the difference has statistical significance (P<0.05); data comparison between 2020 and 2021:the total amount of storage (median 101 920.25 U<120 328.63 U), the total amount of distribution (median 99 084.08 U<118 428.62 U), the amount of distribution per 1 000 population (median 12.19 U<15.00 U), the amount of distribution per 1 000 population (400 mL) (median 8.94 U<9.46 U), the average daily distribution amount (270.73 U>324.46 U), the average daily inventory (median 3 222.00 U<4 328.00 U) increased, the expired amount (median 1.50 U>0.00 U) decreased, the difference has statistical significance (P<0.05). The results of ANOVA showed that there were significant differences on the data related to RBCs supply (except expired amount) in different blood centers (P<0.05). The ratio of average daily stock to average daily distribution in the post-outbreak group (median 12.36 d) was higher than that in the pre-outbreak group (median 10.92 d), the difference has statistical significance (P<0.05), with significant difference among different blood centers (P <0.05). 【Conclusion】 The COVID-19 pandemic has a significant impact on RBCs supply in different blood centers. In the second year of the pandemic, the supply capability had recovered to some extent, and there were differences in RBCs supply in different blood centers.