OBJECTIVE: To explore the genotype-phenotype correlation in a Chinese family with structural brain abnormalities due to variant of the TUBB gene. METHODS: A family undergoing prenatal diagnosis at Beijing Obstetrics and Gynecology Hospital in October 2024 was selected as the study subject. Clinical data were collected. Amniotic fluid sample was subjected to chromosomal copy number variation sequencing (CNV-seq). Trio whole-exome sequencing (Trio-WES) was carried out on the amniotic fluid and parental blood samples, and candidate variant was verified by Sanger sequencing. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2023-KY-076-01). RESULTS: Both prenatal ultrasound and fetal MRI showed deviation of brain midline, unilateral lateral ventriculomegaly, and bilateral gyral asymmetry. Trio-WES revealed that the fetus has harbored a maternally derived heterozygous missense variant of the TUBB gene [NM_178014.4: c.155A>G (p.N52S)]. Sanger sequencing confirmed that the woman and a previously terminated fetus both harbored the same variant. Both the proband and two fetuses exhibited similar neuroimaging abnormalities including midline deviation and asymmetrical gyri. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PM2_Supporting+PS2_Moderate+PS3). CONCLUSION The heterozygous c.155A>G (p.N52S) variant was the TUBB gene probably underlay the pathogenesis of the structural brain abnormalities in this family. Above findings have expanded the phenotypic spectrum associated with the variant and facilitated the prenatal diagnosis for this family.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis ; Tubulin/genetics* ; Adult ; Brain/diagnostic imaging* ; Male ; Pedigree ; DNA Copy Number Variations/genetics* ; Exome Sequencing ; Genetic Association Studies ; Magnetic Resonance Imaging

ObjectivesTo summarize the clinical and pathological features of patients with congenital liver fibrosis （CHF）， and to investigate the differences in clinical and pathological features between patients in different age groups. MethodsA retrospective analysis was performed for the clinicopathological data of 26 patients with pathologically confirmed CHF in China-Japan Friendship Hospital from August 2005 to June 2023， and the patients were stratified by age to investigate the clinical and pathological features of patients in different age groups. ResultsAmong the 26 patients， there were 12 male patients and 14 female patients， with an age of onset of 4 — 61 years. There were 19 patients with portal hypertension type （73.08%）， 2 patients with cholangitis type （7.69%）， 4 patients with mixed type （15.38%）， and 1 patient with occult type （3.85%）. Of all 26 patients， 4 had unknown clinical symptoms， and among the 22 patients with clear clinical symptoms， 10 （45.45%） attended the hospital due to upper gastrointestinal bleeding caused by portal hypertension. Pathological manifestations included roughly normal liver parenchyma separated by fibrous septa in the portal area， with the presence of abnormal reactive bile duct hyperplasia. Denser fibrous septa and a lack of portal veins with the corresponding caliber were observed in 4 pediatric patients with disease onset before the age of 10 years， with a significant reduction or even disappearance of compensatory thin-walled blood vessels. ConclusionPortal hypertension-type CHF is the most common type in clinical practice. Patients with an early age of onset have certain histopathological features of the liver， with the presence of serious complications associated with portal hypertension. Therefore， liver biopsy should be performed for patients suspected of CHF in clinical practice， and genetic testing should be performed when necessary. Early identification and diagnosis are of great importance for improving the prognosis of patients.

Guided by the theory of "liver governing the free flow of qi"， it is believed that liver fail to govern the free flow of qi may lead to qi stagnation， phlegm coagulation， and stasis， which is the core pathogenesis of thyroid nodules， breast nodules and uterine fibroids； qi stagnation， phlegm coagulation， and stasis are not only the important pathological products， but also the obstruction to the liver's function， and the two affect each other as the cause of each other. In clinic， it is advocated that using the treatment method of soothing the liver， rectifying qi， and resolving constraint， with prescription of Tongqi Powder （通气散） as the basic formula， and modified according to symptoms. For liver depression and qi stagnation syndrome， the formula chooses modified Tongqi Powder to soothe the liver and rectify qi； for qi stagnation and phlegm coagulation syndrome， the formula chooses modified Tongqi Powder plus Shenling Baizhu Powder （参苓白术散） to soothe the wood and regulate the earth， and resolve phlegm and dissipate masses； for qi stagnation and blood stasis syndrome， the formula applies modified Tongqi Powder plus Taohong Sizu Decoction （桃红四物汤） to move qi and invigorate blood circulation， unblock the collaterals and dispel accumulation. At the same time， according to the characteristics of thyroid nodules， breast nodules， and uterine fibroids and their different disease locations， medicinals were added or subtracted according to the symptoms， so as to treat both the symptoms and the root cause of the disease simultaneously.

Objective:To investigate intraoperative pathological findings and the interventional effects of "deep cervical lymphaticovenous anastomosis+" (dcLVA+) on deep cervical lymphatic drainage as well as the blood flow of carotid artery and jugular vein in elderly patients with cognitive impairment, and to put forward the thoughts based on the findings from the surgery.Methods:Between May 2024 and December 2024, retrospective analysis of Microsurgery Hospital, Fengcheng Hospital, Xi'an Medical College performed dcLVA+ between the deep cervical lymphatics or lymph nodes and jugular veins in 50 elderly patients with cognitive impairment (19 males and 31 females, aged 55-88 years with 69.94 years in average). Nine patients were found with Clinical Dementia Rating (CDR) score at 1 (mild), 7 with CDR score at 2 (moderate) and 34 with CDR score at 3 (severe). Intraoperative observations based on literature reviews had identified anatomical relationships between the lymphatic sacs containing cervical lymphatic chain and the carotid sheath. The lymph node count, size, distribution, thickness of fat tissue and conditions of lymphatic vessels were documented. Ultrasound was used to compare the blood flow of carotid artery and jugular vein as well as the cross-sectional areas at the planes of hyoid and cricoid cartilage before and after the closure of incisions under anaesthesia in 39 patients. Correlation analyses for Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment (MoCa), Activities of Daily Living (ADL) and Agitation behavior score before and 1 week after surgery were performed using Spearman's correlation and Wilcoxon paired tests. P<0.05 was considered statistically significant. Postoperative follow-ups were conducted via the visit of outpatient clinic and WeChat and telephone interviews. Results:In surgery, the cervical lymphatic chain was found running within an almost enclosed sac surrounding the carotid sheath. There were enlarged lymph nodes, increased fat deposition, lymphatic dilation or fibrosis in the sac. The preoperative blood flow in the carotid artery at the planes of hyoid and cricoid cartilage in the 39 patients was recorded at 150.52 ml/min±40.33 ml/min and 358.29 ml/min±129.30 ml/min, while that in the jugular vein was at 172.50 ml/min±63.94 ml/min and 317.00 ml/min±105.21 ml/min, respectively, both were far lower than the normal blood flow. There were statistically significant differences in the blood flow of carotid artery and jugular vein before and after surgery ( P<0.01). It was found that the preoperative blood flow of the internal carotid artery at the plane of hyoid was positively correlated with the preoperative scores of MMSE ( P<0.01), MoCa ( P<0.05) and ADL ( P<0.01). The blood flow of the common carotid artery at the plane of cricoid cartilage was found significantly and positively correlated with the preoperative scores of MMSE ( P<0.05). It was also noted that the blood flow of the internal carotid artery at the plane of hyoid was significantly and positively correlated with the postoperative ADL ( P<0.01) but negatively correlated with the Agitation behavior score ( P<0.05). The blood flow of the common carotid artery at the plane of cricoid cartilage was significantly and positively correlated with the postoperative scores of MMSE and MoCa ( P<0.05). The blood flow of the internal jugular vein at the plane of hyoid was negatively correlated with the Agitation behavior score ( P<0.01). The cross-sectional area of carotid artery at the plane of left hyoid was significantly and positively correlated with the MMSE score ( P<0.05). Statistically significant differences were observed in MMSE, MoCa, ADL and Agitation behavior score before and after surgery ( P<0.01). Conclusion:dcLVA+ shows a certain therapeutic benefit to the elderly patients with cognitive impairment. The intraoperatively observed pathological changes in cervical lymphatic sacs affect deep cervical lymphatic drainage and the blood flow of carotid artery and jugular vein. Further studies are necessary to find out whether the findings from this study would be the specific pathological changes and the morbidity mechanisms among the elderly patients with cognitive impairment.

Objective:To investigate the predictive value of cardiac MR (CMR)-derived left ventricular end-systolic wall stress (LVESWS) and biventricular strain parameters for different types of heart failure in patients with myocardial infarction.Methods:This retrospective cohort study included 231 patients diagnosed with myocardial infarction by clinical and CMR criteria at the Second Affiliated Hospital of Kunming Medical University between January 2015 and July 2023. The endpoint was the occurrence of heart failure, and patients were divided into 3 groups: no heart failure ( n=85), heart failure with preserved ejection fraction (HFpEF, n=74), and heart failure with reduced ejection fraction (HFrEF, n=72). Clinical indicators such as age and infarct size were collected. CMR parameters analysis included LVESWS, left ventricular global radial strain (LVGRS), left ventricular global circumferential strain (LVGCS), left ventricular global longitudinal strain (LVGLS), right ventricular global radial strain (RVGRS), right ventricular global circumferential strain (RVGCS), right ventricular global longitudinal strain (RVGLS), left ventricular end-diastolic volume index (LVEDVI), and left ventricular end-systolic volume index (LVESVI). Differences in clinical baseline data and CMR parameters among the 3 groups were tested. Univariate Cox regression analysis was performed, followed by multivariate Cox modeling of statistically significant factors. Receiver operating characteristic (ROC) analysis was conducted for the influencing factors identified in the multivariate Cox model, and Kaplan-Meier survival curves for survival time were plotted. Results:Significant differences were observed in biventricular strain parameters (LVGRS, LVGCS, LVGLS, RVGRS, RVGCS, RVGLS), LVESWS, LVEDVI, and LVESVI among the 3 groups (all P<0.05). Univariate and multivariate Cox regression analyses showed that RVGCS, age, and infarct size were independent influencing factors for HFpEF after myocardial infarction (all P<0.01), while LVESWS and LVGLS were independent influencing factors for HFrEF after myocardial infarction (all P<0.001). Further ROC analysis revealed that the areas under the curve (AUC) for RVGCS, infarct size, age, RVGCS combined with age, and RVGCS combined with age and infarct size in predicting HFpEF were 0.771, 0.607, 0.615, 0.793, and 0.805, respectively. The AUCs for LVESWS, LVGLS, and LVESWS combined with LVGLS in predicting HFrEF were 0.943, 0.925, and 0.971, respectively. Kaplan-Meier survival curves based on optimal cutoff values showed statistically significant differences in survival time between HFpEF and non-heart failure patients when grouped by RVGCS and age (all P<0.05), but no significant difference when grouped by infarct size ( P=0.400). Statistically significant differences in survival time were observed between HFrEF and non-heart failure patients when grouped by LVESWS and LVGLS (all P<0.001). Conclusion:CMR-derived LVESWS and biventricular strain parameters demonstrate significant predictive value for different types of heart failure after myocardial infarction and can serve as valuable imaging markers for heart failure management and risk stratification in patients with myocardial infarction.

Objective: To investigate the effect of periodontal inflammation of maxillary molars on the mucosal thickening of the maxillary sinus and to provide references for the prevention and treatment of odontogenic maxillary sinusitis. Methods: This study was approved by the hospital’s Medical Ethics committee. A retrospective analysis was conducted on the cone beam CT (CBCT) images of the maxillary sinuses of 246 patients with periodontitis. Based on the inclusion and exclusion criteria, a total of 331 maxillary sinus images were finally included. The molars with the most severe periodontal inflammation were selected for statistical analysis, including 270 first molars and 61 second molars. CBCT images of these patients were collected. Periodontal indices of maxillary molars [minimum remaining alveolar bone height (minRABH), degree of alveolar bone absorption, furcation involvement, and vertical bone loss] were measured. The correlation between these periodontal indices and maxillary sinus mucosal thickening (defined as normal when the maximum thickness of the maxillary sinus mucosa ≤ 2 mm and thickening when>2 mm) was analyzed. Results: Among the 331 maxillary molars and their corresponding maxillary sinuses, 264 cases showed thickening of the maxillary sinus mucosa, with an average thickness of (5.9 ± 5.1) mm, accounting for 79.8%. The thickening of the maxillary sinus mucosa was significantly correlated with periodontal indices, including minRABH, degree of alveolar bone absorption, furcation involvement, and vertical bone loss (P<0.05), as well as with tooth position (P<0.05). Further binary logistic regression analysis revealed that the possibility of maxillary sinus mucosal thickening in the minRABH<4 mm group was 5.6 times that of the group with minRABH ≥ 10 mm. The possibility of maxillary sinus mucosal thickening in the group with minRABH of 4-10 mm was 2.2 times that of the group with minRABH ≥ 10 mm. The possibility of maxillary sinus mucosal thickening caused by periodontitis in the second maxillary molar was 2.8 times that of the first maxillary molar. minRABH and tooth position of the maxillary molar had a more significant impact on the thickening of the maxillary sinus mucosa compared to other factors (P<0.05). Conclusion When the minRABH of maxillary molars is less than 4 mm or when the tooth position is the second maxillary molar, the possibility of thickening of the maxillary sinus mucosa increases. This suggests that thorough periodontal treatment is an important factor in preventing odontogenic maxillary sinusitis.

Objective:To investigate intraoperative pathological findings and the interventional effects of "deep cervical lymphaticovenous anastomosis+" (dcLVA+) on deep cervical lymphatic drainage as well as the blood flow of carotid artery and jugular vein in elderly patients with cognitive impairment, and to put forward the thoughts based on the findings from the surgery.Methods:Between May 2024 and December 2024, retrospective analysis of Microsurgery Hospital, Fengcheng Hospital, Xi'an Medical College performed dcLVA+ between the deep cervical lymphatics or lymph nodes and jugular veins in 50 elderly patients with cognitive impairment (19 males and 31 females, aged 55-88 years with 69.94 years in average). Nine patients were found with Clinical Dementia Rating (CDR) score at 1 (mild), 7 with CDR score at 2 (moderate) and 34 with CDR score at 3 (severe). Intraoperative observations based on literature reviews had identified anatomical relationships between the lymphatic sacs containing cervical lymphatic chain and the carotid sheath. The lymph node count, size, distribution, thickness of fat tissue and conditions of lymphatic vessels were documented. Ultrasound was used to compare the blood flow of carotid artery and jugular vein as well as the cross-sectional areas at the planes of hyoid and cricoid cartilage before and after the closure of incisions under anaesthesia in 39 patients. Correlation analyses for Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment (MoCa), Activities of Daily Living (ADL) and Agitation behavior score before and 1 week after surgery were performed using Spearman's correlation and Wilcoxon paired tests. P<0.05 was considered statistically significant. Postoperative follow-ups were conducted via the visit of outpatient clinic and WeChat and telephone interviews. Results:In surgery, the cervical lymphatic chain was found running within an almost enclosed sac surrounding the carotid sheath. There were enlarged lymph nodes, increased fat deposition, lymphatic dilation or fibrosis in the sac. The preoperative blood flow in the carotid artery at the planes of hyoid and cricoid cartilage in the 39 patients was recorded at 150.52 ml/min±40.33 ml/min and 358.29 ml/min±129.30 ml/min, while that in the jugular vein was at 172.50 ml/min±63.94 ml/min and 317.00 ml/min±105.21 ml/min, respectively, both were far lower than the normal blood flow. There were statistically significant differences in the blood flow of carotid artery and jugular vein before and after surgery ( P<0.01). It was found that the preoperative blood flow of the internal carotid artery at the plane of hyoid was positively correlated with the preoperative scores of MMSE ( P<0.01), MoCa ( P<0.05) and ADL ( P<0.01). The blood flow of the common carotid artery at the plane of cricoid cartilage was found significantly and positively correlated with the preoperative scores of MMSE ( P<0.05). It was also noted that the blood flow of the internal carotid artery at the plane of hyoid was significantly and positively correlated with the postoperative ADL ( P<0.01) but negatively correlated with the Agitation behavior score ( P<0.05). The blood flow of the common carotid artery at the plane of cricoid cartilage was significantly and positively correlated with the postoperative scores of MMSE and MoCa ( P<0.05). The blood flow of the internal jugular vein at the plane of hyoid was negatively correlated with the Agitation behavior score ( P<0.01). The cross-sectional area of carotid artery at the plane of left hyoid was significantly and positively correlated with the MMSE score ( P<0.05). Statistically significant differences were observed in MMSE, MoCa, ADL and Agitation behavior score before and after surgery ( P<0.01). Conclusion:dcLVA+ shows a certain therapeutic benefit to the elderly patients with cognitive impairment. The intraoperatively observed pathological changes in cervical lymphatic sacs affect deep cervical lymphatic drainage and the blood flow of carotid artery and jugular vein. Further studies are necessary to find out whether the findings from this study would be the specific pathological changes and the morbidity mechanisms among the elderly patients with cognitive impairment.

Objective:To investigate the predictive value of cardiac MR (CMR)-derived left ventricular end-systolic wall stress (LVESWS) and biventricular strain parameters for different types of heart failure in patients with myocardial infarction.Methods:This retrospective cohort study included 231 patients diagnosed with myocardial infarction by clinical and CMR criteria at the Second Affiliated Hospital of Kunming Medical University between January 2015 and July 2023. The endpoint was the occurrence of heart failure, and patients were divided into 3 groups: no heart failure ( n=85), heart failure with preserved ejection fraction (HFpEF, n=74), and heart failure with reduced ejection fraction (HFrEF, n=72). Clinical indicators such as age and infarct size were collected. CMR parameters analysis included LVESWS, left ventricular global radial strain (LVGRS), left ventricular global circumferential strain (LVGCS), left ventricular global longitudinal strain (LVGLS), right ventricular global radial strain (RVGRS), right ventricular global circumferential strain (RVGCS), right ventricular global longitudinal strain (RVGLS), left ventricular end-diastolic volume index (LVEDVI), and left ventricular end-systolic volume index (LVESVI). Differences in clinical baseline data and CMR parameters among the 3 groups were tested. Univariate Cox regression analysis was performed, followed by multivariate Cox modeling of statistically significant factors. Receiver operating characteristic (ROC) analysis was conducted for the influencing factors identified in the multivariate Cox model, and Kaplan-Meier survival curves for survival time were plotted. Results:Significant differences were observed in biventricular strain parameters (LVGRS, LVGCS, LVGLS, RVGRS, RVGCS, RVGLS), LVESWS, LVEDVI, and LVESVI among the 3 groups (all P<0.05). Univariate and multivariate Cox regression analyses showed that RVGCS, age, and infarct size were independent influencing factors for HFpEF after myocardial infarction (all P<0.01), while LVESWS and LVGLS were independent influencing factors for HFrEF after myocardial infarction (all P<0.001). Further ROC analysis revealed that the areas under the curve (AUC) for RVGCS, infarct size, age, RVGCS combined with age, and RVGCS combined with age and infarct size in predicting HFpEF were 0.771, 0.607, 0.615, 0.793, and 0.805, respectively. The AUCs for LVESWS, LVGLS, and LVESWS combined with LVGLS in predicting HFrEF were 0.943, 0.925, and 0.971, respectively. Kaplan-Meier survival curves based on optimal cutoff values showed statistically significant differences in survival time between HFpEF and non-heart failure patients when grouped by RVGCS and age (all P<0.05), but no significant difference when grouped by infarct size ( P=0.400). Statistically significant differences in survival time were observed between HFrEF and non-heart failure patients when grouped by LVESWS and LVGLS (all P<0.001). Conclusion:CMR-derived LVESWS and biventricular strain parameters demonstrate significant predictive value for different types of heart failure after myocardial infarction and can serve as valuable imaging markers for heart failure management and risk stratification in patients with myocardial infarction.

This paper discussed the current education status on medical ethics and styles and the assessment condition in the examination of doctors' qualification， as well as the existing problems and potential solutions by reviewing domestic and foreign literature and summarizing the practice experience. Traditionally， medical ethics and styles have always been integrated into clinical medical practice in China. However， under the modern medical education system， it is challenged to integrate traditional education on medical ethics and styles with the rules of modern medical knowledge. By summarizing the education and assessment status of medical ethics and styles in the examination of doctors' qualification， it is found that the current examination is relatively poor in the evaluation content， and the way of evaluation is not diverse， with lack of curriculum of medical humanities. The solutions suggested are enriching relevant examination content， introducing more and comprehensive evaluation method， and establishing more medical humanities-related courses.

Objective:To analyze the specific immunoglobulin G (IgG) antibodies level in the population after the coronavirus disease 2019 (COVID-19) pandemic in Henan Province.Methods:A total of 5 178 peripheral venous blood samples were collected from 10 districts (counties) in Henan Province according to the national seroepidemiological survey program for COVID-19, and the method of cluster random sampling was adopted from March 6 to 15, 2023. Descriptive analysis was used for the basic data, history of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccination, SARS-CoV-2 infection of the respondents. The specific IgG antibody of SARS-CoV-2 was detected using chemiluminescence method. Statistical analysis was performed by using rank sum test, Kruskal Wallis test, and Dunn′s test.Results:The overall positive rate of SARS-CoV-2-specific IgG antibody was 83.35%(4 316/5 178). There were statistically significant differences in the specific IgG antibodies against SARS-CoV-2 produced by people of different sexes, different ages, infected or not, vaccinated or not, and vaccinated with different doses of SARS-CoV-2 vaccine ( Z=3.60, H=195.32, Z=6.10, 18.08, H=382.70, respectively, all P<0.001). The specific IgG antibodies produced by unvaccinated+ uninfected group, unvaccinated+ infected group, vaccinated+ uninfected group, and vaccinated+ infected group were 3.54(0.98, 11.00), 60.65(2.33, 84.80), 133.00(59.80, 173.00), and 142.00(98.30, 176.00), respectively. And the difference was statistically significant( H=354.62, P<0.001). The specific IgG antibodies of uninfected people increased with the increase of inoculum times( H=287.00 and 98.48, both P<0.001). The specific IgG antibodies of people who were not infected with SARS-CoV-2 in the groups of whose interval from the last inoculation of SARS-CoV-2 vaccine to blood collection was less than three months, three to six months and more than six months were 171.86(156.04, 196.57), 71.71(17.08, 110.38) and 132.14(57.59, 172.25), respectively, and the difference was statistically significant ( H=19.93, P<0.001). Among them, the absolute difference between the less than three months group and the three to six months group was statistically significant ( Z=3.67, P<0.001), and the absolute difference between the less than three months group and the more than six months group was statistically significant ( Z=3.47, P<0.001). The specific IgG antibodies level in the less than three months group was the highest. Conclusions:There is a certain correlation between the number of SARS-CoV-2 vaccine doses and the specific IgG antibodies level in uninfected people. The specific IgG antibodies could maintain a high level for three months after immunization.