Objective:To analyze and summarize clinical phenotypic characteristics and genetic variations in patients with intellectual disability and pathogenic variations of the DYNC1H1 gene across 4 generations within a single family. Methods:Retrospective case analysis.Clinical data of a child with epilepsy and intellectual disability and her family members were collected from the Children′s Medical Center, Peking University First Hospital on December 2019.The child was followed up regularly.DNA was extracted from the peripheral blood of the child′s family members.Then whole-exome sequencing and Sanger sequencing were performed to identify the genetic variation type in the proband and her family members.The relationship between genotype and phenotype was further analyzed.Results:A total of 13 patients across 4 generations in the family had intellectual disability, and the proband also had drug-resistant epilepsy.The variation c. 13556C> A (p.A4519E) of the DYNC1H1 gene was confirmed by gene testing in 8 patients (no blood samples were obtained from the remaining patients). Conclusions:DYNC1H1 gene-related intellectual disability in most previously reported cases are caused by novel variations of this gene.In this study, a large family of 13 intellectual disability patients across 4 generations caused by a pathogenic mutation in the DYNC1H1 gene was summarized.The findings make precise genetic counseling possible for this family and provide a basis for further studies on the relationship between the genotype and phenotype of the DYNC1H1 gene.

Objective To analyze the levels of serum CTCs and ctDNA in NSCLC patients receiving first-line EGFR-TKI treatment, and to explore the clinical value of CTCs and ctDNA detection in assessing the efficacy of treatment for advanced lung cancer. Methods A total of 109 NSCLC patients receiving first-line EGFR-TKI treatment were enrolled. Serum tumor markers CEA, CTCs, and ctDNA were detected at baseline and after one month of treatment. Chest CT scans were performed, and treatment efficacy was evaluated based on RECIST1.1 criteria. CTCs were counted by enrichment-staining-computational algorithm to analyze malignant features, while ctDNA was assessed using digital PCR. Results Survival rate was low in patients with abnormal CEA and ctDNA tests at baseline and in patients with reduced serum CTCs after treatment. In the SD subgroup of patients with brain metastases and advanced stage, the PFS benefit was low. Conclusion Patients in the SD subgroup have significantly higher recurrence risks than those in the PR or CR subgroups. Therefore, CTC and ctDNA testing should be applied to patients in the SD subgroup to identify high-risk patients with poor response to EGFR-TKI treatment, intervene with additional treatment promptly, and obtain long progression-free survival.

Objective:To analyze and summarize clinical phenotypic characteristics and genetic variations in patients with intellectual disability and pathogenic variations of the DYNC1H1 gene across 4 generations within a single family. Methods:Retrospective case analysis.Clinical data of a child with epilepsy and intellectual disability and her family members were collected from the Children′s Medical Center, Peking University First Hospital on December 2019.The child was followed up regularly.DNA was extracted from the peripheral blood of the child′s family members.Then whole-exome sequencing and Sanger sequencing were performed to identify the genetic variation type in the proband and her family members.The relationship between genotype and phenotype was further analyzed.Results:A total of 13 patients across 4 generations in the family had intellectual disability, and the proband also had drug-resistant epilepsy.The variation c. 13556C> A (p.A4519E) of the DYNC1H1 gene was confirmed by gene testing in 8 patients (no blood samples were obtained from the remaining patients). Conclusions:DYNC1H1 gene-related intellectual disability in most previously reported cases are caused by novel variations of this gene.In this study, a large family of 13 intellectual disability patients across 4 generations caused by a pathogenic mutation in the DYNC1H1 gene was summarized.The findings make precise genetic counseling possible for this family and provide a basis for further studies on the relationship between the genotype and phenotype of the DYNC1H1 gene.

Objective The kinetic parameters of Lin's squeezing-pressing adjustment manipulation were collected for the analysis of its mechanical characteristics,thus to establish a standardized operating procedure to guide clinical teaching of this technique.Methods Ten healthy male trainees(aged 20-30 years)from the Tuina Department of Guangdong Provincial of Chinese Medicine were selected as the subjects.A multi-point thin-film pressure testing system was used to collect mechanical parameters during the operation of Lin's squeezing-pressing adjustment manipulation.The mechanical characteristics were analyzed,and then a mathematical model of time-mechanics curve was constructed.Results(1)The kinetic parameters of Lin's squeezing-pressing adjustment manipulation were as follows:preload force averaged(279.45±19.36)N with a duration of(0.98±0.03)s,the valley value of preload force averaged(137.45±3.59)N,the maximum impact force was(495.56±7.33)N,the impact duration averaged(0.15±0.01)s,the impact velocity averaged(3 183.96±94.76)N/s,and the impulse was(57.16±1.82)N/s.(2)The fitting function of impact force showed large absolute values for both ascending and descending slopes,and the ascending slope was significantly greater than the descending slope,indicating that the Lin's manipulation stressed on rapid outburst of the strength and withdrawal of the strength.(3)One-way ANOVA revealed no statistically significant differences in the preload force and its duration and valley value,the maximum impact force,and impact time among different operators(P＞0.05).Conclusion The analysis of kinetic parameters demonstrates that skilled operators maintain relatively stable mechanical parameters when performing Lin's squeezing-pressing adjustment manipulation.This study provides a preliminary digital analysis of the mechanical characteristics of Lin's bone-setting manipulation in addressing"bone misalignment and tendon displacement",which supplies objective evaluation criteria for the technique.

Objective To compare the therapeutic effect of intravascular ultrasound-guided(IVUS-guided)shockwave balloon and cutting balloon in the treatment of severe coronary artery lesions.Methods The clinical data of 180 patients with coronary artery calcified lesions,who were admitted to the Affiliated Zhengzhou Municipal Seventh People's Hospital of Southern Medical University and the Affiliated Henan Provincial Chest Hospital of Zhengzhou University of China from January 2021 to December 2022,were retrospectively analyzed.Using the random number table method,the patients were divided into study group(n=90,receiving IVUS-guided shockwave balloon technology)and control group(n=90,receiving IVUS-guided cutting balloon technology).The surgical outcomes and 24-month follow-up prognosis were compared between the two groups.Results The mean medical cost in the study group was higher than that in the control group(P＜0.05).After pretreatment,the plaque load in the study group was lower than that in the control group,while the minimum lumen diameter,minimum lumen area inside the stent,and stent expansion rate in the study group were all greater than those in the control group(all P＜0.05).One month after treatment,the patients of both groups showed a significant increase in left ventricular ejection fraction(LVEF)and a significant decrease in left ventricular end diastolic diameter(LVEDd)(both P＜0.05),but there were no statistically significant differences in the above two indicators between the two groups(both P＞0.05).The median survival time without adverse cardiovascular events(MACE)in the study group was longer than that in the control group(P＜0.05).Conclusion For the treatment of coronary artery calcified lesions,the IVUS-guided shockwave balloon technique has a certain and reliable therapeutic effect,the postoperative lumen area of the target vessel is larger,and the long-term prognosis is better,when compared with the IVUS-guided cutting balloon technique.

This paper introduces Professor LIU Zhibin 's clinical experience in the treatment of subjective tinnitus with acupuncture based on the "kidney-bone-brain" axis. Professor LIU proposes that the disease is most closely related to the kidney and brain. The lesion is located in the brain, and the pathogenesis is kidney essence deficiency, marrow sea loss, and ear orifice dystrophy. The "kidney-bone-brain" shows close correlation in physiological function, pathological changes and treatment. According to the "kidney-bone-brain" axis, Professor LIU proposes that the treatment of subjective tinnitus should be tonifying kidney qi, tonifying essence and filling marrow, and the principle of local acupoint selection, touching bone acupuncture, matching distal acupoints and proximal acupoints, tonifying kidney and benefiting brain should be adopted. The acupoints of Tinggong (SI19) and Yifeng (TE17) are selected to be treated with touching bone acupuncture, combined with Taixi (KI3), Shenshu (BL23), Baihui (GV20) and Shenting (GV24), so as to achieve common benefit of kidney, bone and brain, and multi-angle treatment.
Humans ; Acupuncture Therapy/history* ; Tinnitus/physiopathology* ; Acupuncture Points ; Kidney/physiopathology* ; Brain/physiopathology* ; Bone and Bones/physiopathology* ; Female ; Male ; Adult ; Middle Aged

Electrical impedance tomography (EIT) is a new non-invasive functional imaging technology, which has the advantages of non-invasion, non-radiation, low cost, fast response, portability and visualization. In recent years, more and more studies have shown that EIT has great potential in the detection of lung diseases and has been applied to early diagnosis and treatment of some diseases. This paper introduced the basic principle of EIT, discussed the research and clinical application of EIT in the detection of acute respiratory distress syndrome, chronic obstructive pulmonary disease, pneumothorax and pulmonary embolism, and focused on the summary and introduction of indicators and functional images of EIT related to the detection of lung diseases. This review will help medical workers understand and use EIT, and promote the further development of EIT in lung diseases as well as other fields.
Humans ; Electric Impedance ; Tomography/methods* ; Lung Diseases/diagnosis* ; Pulmonary Disease, Chronic Obstructive/diagnosis* ; Pulmonary Embolism/diagnosis* ; Respiratory Distress Syndrome/diagnosis*

Objective:To explore the feasibility and clinical effect of surgical treatment for patients with malignant tumor complicated with coronary heart disease.Methods:The medical records of 12 patients with malignant solid tumor complicated with coronary heart disease who were treated by the same surgical team in the Department of Cardiac Surgery, the First Hospital of Tsinghua University from January 2018 to May 2025 were collected retrospectively, including 8 cases of digestive system tumors, 3 cases of lung tumors and 1 case of urinary system tumor. All patients underwent simultaneous (4 cases) or staged (8 cases) coronary artery bypass grafting and tumor resection. Coronary artery bypass grafting under cardiopulmonary bypass was performed in 2 cases, and off-pump coronary artery bypass grafting was performed in the remaining 10 cases. Postoperative follow-up was conducted.Results:None of the 12 patients died during hospitalization, and all were cured and discharged. No perioperative myocardial ischemia or infarction occurred during hospitalization, and no postoperative surgical bleeding occurred. The 12 patients were followed up for 1 month to 7 years and 5 months. One patient with rectal cancer complicated with coronary heart disease had liver and lung metastases 13 months after surgery and died suddenly during the second cycle of chemotherapy 16 months after surgery. The remaining 11 patients survived.Conclusions:It is feasible to perform coronary artery bypass grafting and tumor resection in patients with coronary heart disease complicated with malignant tumor, and the short-term and medium-term effects are satisfactory.

Objective:To explore the feasibility and clinical effect of surgical treatment for patients with malignant tumor complicated with coronary heart disease.Methods:The medical records of 12 patients with malignant solid tumor complicated with coronary heart disease who were treated by the same surgical team in the Department of Cardiac Surgery, the First Hospital of Tsinghua University from January 2018 to May 2025 were collected retrospectively, including 8 cases of digestive system tumors, 3 cases of lung tumors and 1 case of urinary system tumor. All patients underwent simultaneous (4 cases) or staged (8 cases) coronary artery bypass grafting and tumor resection. Coronary artery bypass grafting under cardiopulmonary bypass was performed in 2 cases, and off-pump coronary artery bypass grafting was performed in the remaining 10 cases. Postoperative follow-up was conducted.Results:None of the 12 patients died during hospitalization, and all were cured and discharged. No perioperative myocardial ischemia or infarction occurred during hospitalization, and no postoperative surgical bleeding occurred. The 12 patients were followed up for 1 month to 7 years and 5 months. One patient with rectal cancer complicated with coronary heart disease had liver and lung metastases 13 months after surgery and died suddenly during the second cycle of chemotherapy 16 months after surgery. The remaining 11 patients survived.Conclusions:It is feasible to perform coronary artery bypass grafting and tumor resection in patients with coronary heart disease complicated with malignant tumor, and the short-term and medium-term effects are satisfactory.

Objective To investigate the short-term efficacy of dapagliflozin in the treatment of non-diabetic patients with severe aortic stenosis after transcatheter aortic valve replacement(TAVR).Methods A total of 84 non-diabetic patients with severe aortic stenosis after TAVR who were admitted to Zhengzhou Cardiovascular Hospital from March 2019 to September 2022 were selected as research subjects.According to the postoperative treatment,the patients were divided into control group and observation group,with 42 patients in each group.Patients in both groups underwent TAVR.The patients in the control group were given routine treatments such as antiplatelet drugs,cardiac remodeling improvement drugs,and diuretics after TAVR;patients in the observation group were given dapagliflozin 10 mg daily for 6 months in addition to treatment in the control group.The left ventricular ejection fraction(LVEF),left ventricular end-systolic diameter(LVESD),left ventricular end-diastolic diameter(LVEDD),aortic valve peak gradient(AVPG)and aortic valve peak velocity(AVPV)of patients in the two groups were measured by using an ultrasound diagnostic instrument before surgery,3 days and 6 months after TAVR;before surgery and 6 months after the TAVR,low-density lipoprotein cholesterol(LDL-C)in serum of patients in the two groups was detected by direct measurement method,lipoprotein a[Lp(a)]level in serum was detected by latex agglutination reaction method,hypersensitive C-reactive protein(hs-CRP)level in serum was detected by rate scattering turbidimetry;the levels of N-terminal pro B-type natriuretic peptide(NT-proBNP),interleukin-6(IL-6),tumor necrosis factor-α(TNF-α)and interleukin-1 β(IL-1 β)in serum were detected by using enzyme-linked immunosorbent assay;the glycated hemoglobin level of patients in the two groups was measured by ion exchange chromatography.Results There was no statistically significant difference in LVEF,LVESD and LVEDD of patients in the two groups before and 3 days after surgery(P＞0.05);after 3 days of surgery,the AVPG and AVPV of patients in the two groups were significantly lower than those before surgery(P＜0.05).Six months after surgery,the LVEF of patients in the two groups was significantly higher than that before and 3 days after surgery,while LVESD,LVEDD,AVPG and AVPV were significantly lower than those before and 3 days after surgery(P＜0.05).There was no statistically significant difference in LVEF,LVESD,LVEDD,AVPG and AVPV between the control group and the observation group before and 3 days after surgery(P＞0.05).After 6 months of surgery,the LVEF of patients in the observation group was significantly higher than that in the control group,while LVESD and LVEDD were significantly lower than those in the control group(P＜0.05);there was no statistically significant difference in AVPG and AVPV of patients between the observation group and control group(P＞0.05).Before surgery,there was no statistically significant difference in body mass index(BMI),LDL-C and Lp(a)of patients between the two groups(P＞0.05).Six months after surgery,the BMI,LDL-C and Lp(a)of patients in the two groups were significantly lower than those before surgery,and the BMI,LDL-C and Lp(a)of patients in the observation group were significantly lower than those in the control group(P＜0.05).Before surgery,there was no statistically significant difference in the hs-CRP,NT-proBNP,IL-6,TNF-α and IL-1 β of patients between the two groups(P＞0.05);six months after surgery,the hs-CRP,NT-proBNP,IL-6,TNF-α and IL-1 β of patients in the two groups were significantly lower than those before surgery,and the hs-CRP,NT-proBNP,IL-6,TNF-α and IL-lβ of patients in the observation group were significantly lower than those in the control group(P＜0.05).There was no statistically significant difference in glycated hemoglobin of patients between the two groups before and six months after surgery(P＞0.05),and no statistically significant difference in glycated hemoglobin of patients in the two groups six months after surgery compared with that before surgery(P＞0.05).Conclusion Dapagliflozin can effectively improve cardiac structural remodeling,regulate lipid metabolism,reduce the expression of inflammatory factors and promote the recovery of heart function in non-diabetic patients with severe aortic stenosis after TAVR.