Objective:To discuss the distinctive sonographic feature and the biological behavior of renal angiomyolipoma(RAML),and to provide the reference for the clinicians to make the accurate diagnosis of RAML.Methods:The clinical data of one patient with invasive classical RAML combined with pseudaneurysm formation were collected.The sonographic appearances were analyzed in conjunction with the pathological characteristics to clarify the biological behavior of RAML,and the relevant literatures were reviewed.Results:The patient,a 60-year-old female,visited the local hospital due to discomfort in the lumbar area,and received CT examination,and the CT examination results revealed a left renal mass,so the patient came to our hospital.The specialist clinical examinations and laboratory investigations were unremarkable.The ultrasound results indicated an enlarged left kidney with a cystic and solid mass at the upper pole,which featured pseudaneurysm formation(originating from the interlobar arteries);the enhanced CT image results suggested a high probability of upper pole renal carcinoma combined with aneurysmal formation within the tumor,alongside invasion into the left adrenal gland.The patient underwent laparoscopic radical left nephrectomy,and the postoperative pathology confirmed the diagnosis of invasive classical RAML.Conclusion:The classical RAML can exhibit the invasive biological behavior.The pseudaneurysm formation is a special sonographic manifestation of RAML,which can be challenging to differentiate from the other renal tumors.

Objective:To evaluate the surgery combined chemotherapy and radiation in locally advanced neuroendocrine carcinoma of the cervix (NECC) .Methods:This is a single-center retrospective cohort study. Locally advanced NECC patients admitted to Peking Union Medical College Hospital, Chinese Acadmy of Medical Sciences from January 2011 to April 2022 were enrolled. They were divided into concurrent chemoradiotherapy group, and surgery combined with chemotherapy and radiation group. The Kaplan-Meier method was used to analyze the progression free survival (PFS), overall survival (OS), recurrence rate, and mortality rate.Results:(1) Forty-six cases were included, 22 in concurrent chemoradiotherapy group, 24 in surgery combined chemotherapy and radiation group. With 16 patients (35%, 16/46) received neoadjuvant chemotherapy (NACT), the NACT effective rate was 15/16. (2) The median follow-up time was 27.5 months (range: 10-106 months), with 26 (57%, 26/46) experienced recurrences. There were 4 (9%, 4/46) pelvic recurrences and 25 (54%, 25/46) distant recurrences, and 3 (7%, 3/46) both pelvic and distant recurrences. Compared with concurrent chemoradiotherapy group, surgery combined chemotherapy and radiation group had lower pelvic recurrence rate [14% (3/22) vs 4% (1/24); χ2=1.296, P=0.255] but without statistic difference. Both groups had similar distant recurrence rate [55% (12/22) vs 54% (13/24); χ2=0.001, P=0.979] and overall recurrence rate [59% (13/22) vs 54% (13/24); χ2=0.113, P=0.736]. (3) During the follow-up period, 22 cases (48%, 22/46) died, with 11 cases (50%, 11/22) in concurrent chemoradiotherapy group and 11 cases (46%, 11/24) in surgery combined chemotherapy and radiation group, without significant difference ( χ2=0.080, P=0.777). The postoperative 3-year and 5-year OS rates were 62.3% and 36.9%. Compared with concurrent chemoradiotherapy group, the patients in surgery combined chemotherapy and radiation group showed an extended trend in PFS (17.0 vs 32.0 months) and OS (37.0 vs 50.0 months) but without statistic differences ( P=0.287, P=0.125). Both groups had similar 3-year OS rate (54.2% vs 69.9%; P=0.138) and 5-year OS rate (36.1% vs 38.8%; P=0.217). Conclusions:Our study supports the multi-modality treatment strategy (including surgery, chemotherapy and radiation) as an important component in the treatment of locally advanced NECC. The combination of surgery, chemotherapy and radiation seems to have advantages in the treatment of locally advanced NECC, but needs to be confirmed by further multicenter studies.

The coronary artery disease is a frequent severe disease of cardiovascular system in recent years. Meanwhile, lung cancer, with its high morbidity and mortality, is the most frequent malignant tumor of respiratory system in the world. Clinical studies have shown that the incidence of coronary artery disease and lung cancer is high throughout the year, and comorbidities are becoming more common, especially in elderly patients. The incidence of lung cancer and coronary heart disease may be related. This article summarizes the common risk factors (smoking and environmental pollution, fibrinogen, estrogen, and age), and treatment (surgical treatment, neoadjuvant therapy, and targeted therapy) progress of the two diseases, providing a theoretical basis for clinical prevention and treatment.

Objective To conduct Rh blood group serological testing and third-generation sequencing(TGS)on 22 RhD variant voluntary blood donors in Chongqing and explore the phenotypic distribution and genotyping of RhD variants in Chongqing.Methods From January to August 2023,individuals who participated in blood donation in our blood center were selected as the study objects.RhD variant phenotype identification was performed using routine serological methods.Once the RhD variants were identified,tests on different antigenic epitopes of RhD were conducted using a D-screen assay kit.Furthermore,after the genomic DNA from 22 RhD variant blood samples was extracted,imbraided primers design and multi-segment amplification and splicing were used to sequence the full-length RHD gene for TGS.The RHD gene sequence was analyzed using SnapGene software.Results Among the 22 RhD variants,8 were DVI type 3(36.36%),with the main mutation of RHD-CE(3-6)-D hybrid allele.Six cases(27.27%)showed partial weak D15 type,with the main mutation of c.845G>A.There were 6 cases of Asia type Del(27.27%),with the main mutation of c.1227G>A.One case was weak D17 type with a mutation of c.340C>T and 1 case speculated to be partial D(c.491A>T,p.Asp164Val,missense mutation).Conclusion The most common RhD variant phenotype among blood donors in Chongqing is DVI type 3,and the full-length haplotype sequence of RHD variant alleles can be obtained by Pacific Bioscience single-molecule real-time sequencing(SMRT).

Pancreatic metastases originating in colon cancer are very rare clinically, and there are few reports on their imaging manifestations. In this paper, it improves the diagnosis of the disease by reporting a case of pancreatic head metastases and focusing on the appearance of contrast-enhanced ultrasound.

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 explore the changes in the functional connectivity (FC) of hippocampal subregions in nicotine addicts after repetitive transcranial magnetic stimulation (rTMS) using resting-state FC.Methods:This study was a cross-sectional study. The clinical and imaging data from 20 male nicotine addicts at Zhejiang Hospital between 2022 and 2024 were analyzed prospectively. All participants received rTMS treatment and were assessed with nicotine-related clinical scales and resting-state FC analysis before and after treatment. The clinical scale evaluations included the Fagerstr?m test for nicotine dependence (FTND), smoking severity index, Minnesota nicotine withdrawal scale (MNWS), short tobacco craving questionnaire (sTCQ), and visual analog scale (VAS). Paired t-tests and Wilcoxon signed-rank tests were used to compare the differences in clinical scale scores before and after treatment. Ten subregions of the bilateral hippocampus (including the hippocampus, dentate gyrus, entorhinal cortex, hippocampus-amygdala transition area, and subiculum) were used as seed points, and paired t-tests were conducted to compare the FC differences in these subregions before and after treatment. Pearson and Spearman correlation analyses were used to assess the correlation between changes in resting-state FC in the rTMS group and clinical scale scores. Results:Compared to pre-treatment, the scores on the FTND, smoking severity index, MNWS, sTCQ, and VAS all significantly decreased after rTMS treatment in nicotine addicts (all P<0.05). Compared to pre-treatment, post-treatment FC was reduced between the left dentate gyrus subregion and the bilateral supplementary motor area and left middle cingulate gyrus, while it increased between the left entorhinal cortex subregion and the right middle and superior temporal gyri, and between the left hippocampus-amygdala transition area subregion and the bilateral calcarine cortex and cuneus (Gaussian random field correction, voxel-level P<0.01, cluster-level P<0.05). Negative correlations were observed between the FC difference in the left hippocampus-amygdala transition area subregion and the right calcarine cortex and the difference in sTCQ-impulse score before and after treatment ( r=-0.447, P=0.048). Negative correlations were observed between the FC difference in the left hippocampus-amygdala transition area subregion and the right cuneus and the difference in the sTCQ-expectation score ( r=-0.559, P=0.010). Negative correlations were observed between the FC difference in the left hippocampus-amygdala transition area subregion and the left calcarine cortex and the differences in sTCQ-emotion and sTCQ-expectation scores ( r=-0.516, P=0.020; r=-0.466, P=0.038, respectively). Negative correlations were observed between the FC difference in the left hippocampus-amygdala transition area subregion and the left cuneus and the differences in sTCQ-emotion and sTCQ-expectation scores ( r=-0.459, P=0.042; r=-0.501, P=0.024, respectively). Conclusion:Changes in FC in certain hippocampal regions are observed in nicotine addicts following rTMS treatment, suggesting that hippocampal subregions may serve as potential biomarkers for nicotine addiction withdrawal to some extent.

Objective     To compare the clinical effects of coronary artery bypass grafting (CABG) via the left anterior small thoracotomy (LAST) versus lower-end sternal splitting (LESS) approach in the treatment of coronary heart disease. Methods     The patients who underwent LAST CABG in Tianjin Chest Hospital from October 2015 to December 2020 were allocated to an observation group (LAST group), and the patients who underwent LESS CABG at the same period were allocated to a LESS group. Propensity score matching method was applied with a ratio of 1∶1. The baseline data, perioperative data and grafts data were compared between the two groups after matching. Results     Before matching, there were 110 patients in the LAST group, and 206 patients in the LESS group. After matching, there were 110 patients in each group. In the LAST group, there were 83 males and 27 females with an average age of 60.6±8.3 years. In the LESS group, there were 80 males and 30 females with an average age of 61.0±9.6 years. There was no statistical difference in baseline data between the two groups after matching (P>0.05). The hospital stay time (t=2.255, P=0.025) and ventilator using time (t=−2.229, P=0.027) in the LAST group were significantly shorter than those in the LESS group. There were no statistical differences between the two groups in the postoperative hospital stay time, ICU stay time, postoperative left ventricular ejection fraction, postoperative left ventricular end-diastolic diameter, average number of grafts, secondary intubation, secondary thoracotomy, postoperative wound infection, sternal complications, postoperative atrial fibrillation, postoperative pulmonary infection or main adverse cardiovascular and cerebrovascular events (P>0.05). There was no statistical difference in the distribution of target vessels in the anterior descending branch, diagonal branch or posterior descending branch between the two groups (P>0.05). The grafts of the LAST group were significantly more than those of the LESS group in the area of obtuse marginal branch and posterior ventricular branch, and the grafts of the LESS group were significantly more than those of the LAST group in the area of right coronary artery (P<0.05). Post-operative computerized tomography angiography indicated that 1 patient in the LAST group had obtuse marginal branch vein bridge vessel occlusion, and the bridge vessels in the other patients were unobstructed. Conclusion     Minimally invasive CABG via both LAST and LESS approaches is safe and effective. LAST approach can achieve complete revascularization for multi-vessel lesions, and it is safe and reliable, with the advantages of less trauma and aesthetic appearance. However, it requires a certain learning curve of surgical techniques and certain surgical indications.

Radioactive 125I seed implantation has definite curative effect in the treatment of local liver cancer. Currently, percutaneous implantation guided by CT, nuclear magnetism or ultrasound can be adopted, which is safe and minimally invasive. However, the images of some patients with metastatic liver cancer show isodensity or iso-echo imaging under CT or ultrasound, which is easy to miss diagnosis and treatment, seriously affecting the quality of life of patients. A case of terminal cholangiocarcinoma of the biliary tract with metastasis to the liver was admitted to China-Japan Union Hospital of Jilin University. Ultrasound image showed iso-echo, and radio 125I seed implantation was performed under the guidance of contrast-enhanced ultrasound. The operation was completed according to the preoperative treatment plan.