Objective:Interruption of aortic arch(IAA)is a rare congenital heart disease.This study aims to investigate echocardiographic features and pathological ultrastructural characteristics of fetal IAA and to further analyze its pathological evolution. Methods:A retrospective analysis was conducted on prenatal echocardiographic,post-surgical,or autopsy findings of fetuses prenatally diagnosed with IAA.Prenatal echocardiographic tracking was used to observe the internal diameters and Z-scores of different segments of the aortic arch and the changes in the narrowed section.These observations were combined with autopsy and pathological findings to explore the potential intrauterine evolution of IAA and its cytological basis. Results:The study included 34 fetuses with IAA,with 3,3,and 28 fetuses prenatally diagnosed with aortic arch dysplasia(AAD),coarctation of aorta(CoA),and IAA,respectively.The 3 AAD and 3 CoA fetuses chose termination of pregnancy 1 to 2 weeks after prenatal ultrasound diagnosis,and autopsy confirmed IAA.Among the 28 fetuses prenatally diagnosed with IAA,6 cases of CoA progressively worsened,eventually evolving into type A IAA as observed through echocardiographic follow-up.The remaining 22 cases were diagnosed as IAA on the first prenatal ultrasound.Postnatal surgery corrected 3 cases,while 27 cases opted for pregnancy termination,and 4 cases resulted in intrauterine death.Echocardiographic features of the fetal IAA included a significantly smaller left ventricle compared with the right or negligible difference on the four-chamber view,a significantly smaller aorta than the pulmonary artery on the three-vessel view,and a lack of connection between the aorta and the descending aorta on the three-vessel-trachea and aortic arch views.The aortic arch appears less curved and more rigid,losing the normal"V"shape between the aorta,ductus arteriosus,and descending aorta.Color Doppler ultrasound showed no continuous blood flow signal at the interruption site,with reversed blood flow visible in the ductus arteriosus.Transmission electron microscopy of 7 IAA fetuses revealed numerous disorganized smooth muscle cells between the elastic membranes near the aortic arch interruption site,significantly increased in number compared with the proximal ascending aorta.The elastic membranes were thicker and more twisted near the interruption site.The interruption area lacked normal endothelial cells and lumen,with only remnants of necrotic endothelial cells,disorganized short and thick elastic membranes,and randomly arranged smooth muscle cells. Conclusion:Prenatal echocardiography is the primary diagnostic tool for fetal IAA.Post-surgical follow-up and autopsy help identify complications and disease characteristics,enhancing diagnostic accuracy.Some fetal IAA may evolve from AAD or CoA,with potential pathogenesis related to ischemia,hypoxia,and migration of ductal constrictive components.

Numerous clinical practices and case studies have found that thickening of the nuchal transparent layer (NT) in fetuses is not only related to chromosomal diseases, but also closely related to adverse pregnancy outcomes such as chromosomal microdeletion/microduplication syndrome, fetal structural abnormalities, certain genetic syndromes, and intrauterine fetal death. With the introduction of new genetic testing techniques, for fetuses with NT thickening detected by ultrasound, the genetic causes of NT thickening in fetuses can be identified at the prenatal single gene level, accurately assessing fetal condition and prognosis, and providing a theoretical basis for couples to have another child. In order to further clarify the clinical significance and corresponding diagnostic pathways of fetal NT thickening in prenatal diagnosis, this article reviews the progress of fetal NT thickening in prenatal diagnosis in domestic and foreign literature.

Objective:To explore the method of ultrasonography for detecting the fetal umbilical vein diameter, blood flow volume and normalized volume blood flow and establish normal reference ranges with umbilical vein diameter, blood flow volume and normalized blood flow and Z-scores for umbilical vein diameter and blood volume flow.Methods:This was a prospective study on 907 normal fetuses in the Second Xiangya Hospital, Central South University and Women and Children Healthcare Hospital of Zhuzhou from March 2019 to December 2020. The umbilical vein diameter (Duv), umbilical vein blood flow volume (Quv) and normalized volume blood flow (nQ = Quv/estimated fetal weight) of the free loop of umbilical vein (FUV) and fetal intra-abdominal umbilical vein (IUV) were collected. And the mean values and 90% confidence intervals of Duv, Quv and nQ in two segments of umbilical veins at different gestational ages were calculated. Regression analysis of Duv, Quv and nQ were performed with gestational age (GA), and the parameters of umbilical vein in different segments were compared. Finally, with gestational age (GA) as the independent variable, Z-scores of the Duv and Quv were built.Results:The mean values and 90% confidence intervals of Duv, Quv, and nQ in 858 (94.6%) normal fetal umbilical veins were successfully obtained. The Duv, Quv of the FUV and IUV increased as pregnancy progressed. The Quadratic curve of Duv and Linear curve of Quv were of the highest fitnesses, respectively( r=0.951, 0.941, 0.986, 0.982; all P<0.001). While nQ increased with GA followed by a decreased trend, and the Quadratic curve was the highest fitting curve of nQ( r=0.610, 0.611; all P<0.001). Duv-FUV was greater than Duv-IUV( P<0.001), nQ-FUV was bigger than Quv-IUV( P=0.001), and he difference was not statistically significant between Quv-FUV and Quv-IUV( P=0.133). Z-scores models of Duv and Quv were successfully established, and all Z-scores were Gaussian distribution. Conclusions:The normal ranges and Z-scores of umbilical vein parameters are useful to improve the evaluation of placental circulation and provide a strong basis for the monitoring of fetus-related diseases and the evaluation of pregnancy prognosis. The choice of FUV or IUV umbilical vein to evaluate placental circulation may depend on the actual situation in clinical application.

PURPOSE: Details of patients hospitalized for asthma exacerbation in mainland China are lacking. To improve disease control and reduce economic burden, a large sample survey among this patient population is indispensable. This study aimed to investigate the clinical characteristics and outcomes of such patients.METHODS: A retrospective study was conducted on patients hospitalized for asthma exacerbation in 29 hospitals of 29 regions in mainland China during the period 2013 to 2014. Demographic features, pre-admission conditions, exacerbation details, and outcomes were summarized. Risk factors for exacerbation severity were analyzed.RESULTS: There were 3,240 asthmatic patients included in this study (57.7% females, 42.3% males). Only 28.0% used daily controller medications; 1,287 (39.7%) patients were not currently on inhaled corticosteroids. Acute upper airway infection was the most common trigger of exacerbation (42.3%). Patients with severe to life-threatening exacerbation tended to have a longer disease course, a smoking history, and had comorbidities such as hypertension, chronic obstructive pulmonary disease (COPD), and food allergy. The multivariate analysis showed that smoking history, comorbidities of hypertension, COPD, and food allergy were independent risk factors for more severe exacerbation. The number of patients hospitalized for asthma exacerbation varied with seasons, peaking in March and September. Eight patients died during the study period (mortality 0.25%).CONCLUSIONS: Despite enhanced education on asthma self-management in China during recent years, few patients were using daily controller medications before the onset of their exacerbation, indicating that more educational efforts and considerations are needed. The findings of this study may improve our understanding of hospital admission for asthma exacerbation in mainland China and provide evidence for decision-making.
Adrenal Cortex Hormones ; Asthma ; China ; Comorbidity ; Disease Progression ; Education ; Female ; Food Hypersensitivity ; Hospitalization ; Humans ; Hypertension ; Inpatients ; Medication Adherence ; Mortality ; Multivariate Analysis ; Pulmonary Disease, Chronic Obstructive ; Retrospective Studies ; Risk Factors ; Seasons ; Self Care ; Smoke ; Smoking

Objective To summarize the clinical characteristics of hepatic lymphoepithelioma-like carcinoma,and to explore the diagnosis and treatment strategies of hepatic lymphoepithelioma-like carcinoma.Methods A retrospectively analysis on 13 patients with liver lymphoepithelioma-like carcinoma in Union Hospital,Tongji Medical College,Huazhong University of Science and Technology,between March 2005 and May 2019 were carried out.Results 8 cases were male,5 were female,median age was 45years (27 to 68 y).There were 8 cases of intrahepatic cholangiocytic lymphoepithelioma-like carcinoma,4cases of hepatocytic lymphoepithelioma-like carcinoma,and 1 case of mixed hepatocytic and cholangiocytic lymphoepithelioma-like carcinoma.All patients received partial hepatectomy and postoperative comprehensive treatment.The patients were followed from 6 months to 7 years.Only one patient died,and the other patients were all in a tumor-free state.Conclusion Primary hepatic lymphoepithelioma-like carcinoma is a rare liver cancer.It is confirmed mainly by pathological examination and immunohistochemistry.With surgery as the main treatment,prognosis is usually fair.

Objective To investigate the protective effect of intravitreal injection of nerve growth factor (NGF) on apoptosis of retinal ganglion cells (RGCs) in early diabetic rats and its possible mechanism.Methods SD rats were divided into normal control group,diabetic model group,phosphate buffer solution (PBS) group and NGF group according to random number table method,with each group contain 6 rats.The rats in diabetic model group,PBS group and NGF group were injected intraperitoneally with streptozotocin (STZ) to establish diabetic rat model.After 4 weeks of modeling,2 μl PBS and 2 μl NGF (0.5 μg/μl) were injected into the vitreous cavity in PBS group and NGF group,respectively.The right eyes served as the experimental eyes,inject once a week for 4 weeks.After 4 weeks of injection,the retina microangiopathy of each group was observed by Phoenix Micron Ⅳ small animal retinal imaging system.After high dose anesthesia,the eyeball of one rat from each group was taken to prepare ultrathin sections and observed by transmission electron microscopy.Five rat eyeballs were taken to prepare retinal paraffin sections from each groups.The RGC apoptotic index was observed by TUNEL method.The expressions of RGC bcl-2 protein and bax protein were analyzed by immunohistochemistry.This study was approved by the Experimental Animal Ethics Committee of Central South University,and the experimental procedures were in accordance with the National Institutes of Health(NIH) guidelines for the Care and Use of Laboratory,and follow the 3R principle.Results The weight of the diabetic model rats was significantly lower than that of the normal group,and the intake of water and food were significantly increased,the urine volume was also in creased.The body weight and blood glucose level of the rats were significantly different among different groups after 4 weeks of modeling (F=202.352,148.444,both at P＜0.001).Fundus photography of early diabetic rats showed no obvious diabetic retinal microangiopathy.The numbers of RGC in the diabetic model group and PBS group were significantly lower than that in the normal control group under the transmission electron microscope.The membrane shrinkage,cytoplasmic condensation,organelle edema,chromatin peripheral collection were obvious and the cell apoptosis number was increased.The RGC lesions in the NGF group were lighter than those in the diabetic model group and PBS group.The apoptotic indexs in the normal control group,diabetic model group,PBS group and NGF group were (3.88±1.28)％,(92.56±1.58)％,(92.64±2.30)％ and (59.34±3.89)％,respectively,the overall difference of apoptotic index between the four groups was statistically significant (F=854.554,P＜0.001);the RGC apoptotic index of the diabetic model group was significantly higher than that of the normal control group.The RGC apoptotic index of the NGF group was significantly lower than that of the diabetic model group and PBS group (both at P＜0.05).The expression levels of bcl-2 protein in normal control group,diabetic model group,PBS group and NGF group were 38.11 ± 1.01,22.38±3.90,23.04±3.14 and 84.69±1.45,respectively,with a significant difference among the groups (F =366.206,P＜0.001).The expression levels of bax protein in normal control group,diabetes model group,PBS group and NGF group were 4.22± 1.89,56.59±6.67,56.30±8.51 and 26.19±2.44,respectively,with a significant difference among the groups (F=61.435,P＜0.001).The expression of bcl-2 protein in the diabetic model group was significantly lower than that in the normal control group (P＜0.05),and the expression of bax protein was significantly increased (P＜0.05).The expression of bcl-2 protein in NGF group was significantly higher and the expression of bax protein was significantly lower than those in the PBS group and diabetic model group (all at P＜0.05).Conclusions The ultrastructural damage of RGCs has occurred in early diabetic rats without diabetic retinal microangiopathy.Intravitreal injection of NGF may produce retinal neuroprotective effects by inhibiting apoptosis of RGCs in diabetic rats.

Objective: To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus. Methods: Next-generation sequencing was carried out for the fetus, the gravida and two of her sisters. Results: The fetus was found to harbor a c. 1765T>C (p.Tyr589His) mutation in exon 14 of the L1CAM gene, which was derived from the gravida. Conclusion Male fetuses with recurrent hydrocephalus should be subjected to testing of the L1CAM gene to facilitate genetic counseling and prenatal diagnosis.

OBJECTIVE: To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus. METHODS: Next-generation sequencing was carried out for the fetus, the gravida and two of her sisters. RESULTS: The fetus was found to harbor a c.1765T>C (p.Tyr589His) mutation in exon 14 of the L1CAM gene, which was derived from the gravida. CONCLUSION Male fetuses with recurrent hydrocephalus should be subjected to testing of the L1CAM gene to facilitate genetic counseling and prenatal diagnosis.
DNA Mutational Analysis ; Female ; Fetus ; Genetic Diseases, X-Linked ; diagnosis ; genetics ; Humans ; Hydrocephalus ; diagnosis ; genetics ; Male ; Mutation ; Neural Cell Adhesion Molecule L1 ; genetics ; Pedigree ; Pregnancy

To explore the way of prenatal echocardiography in the diagnosis of fetal double aortic arch . Methods T he data of fetuses diagnosed as double aortic arch in 6 prenatal centers in Hunan in echocardiograms performed at 20－36 weeks of gestation from 2013 to 2018 were reviewed . T he characteristics of echocardiographic with double aortic arch , and the associated malformations were observed ,the clinical outcome were analyzed . Results T he main echocardiographic features of the double aortic arch were three‐vessel‐tracheal view s ,which showed a bifurcation of the ascending aorta and a ring consisted of aortic right and left arch . From this retrospective analysis , 29 double aortic arches were identified ,which 8 cases ( 28% ) combined with cardiac defect and extracardiac abnormalities , 1 case with 22q11 deletion . Among them ,5 cases were confirmed by autopsy ,24 cases were diagnosed by computed tomography angiography ( 8 cases were confirmed by operation ) . Conclusions Systematic prenatal echocardiography in the diagnosis of fetal double aortic arch has significant clinical value in the cliagnose of double aortic arch ,w hether it is associated with other malformations and is important for assessing fetal prognosis .

Objective To evaluate the general level of asthma management in urban areas of China and further promote the national asthma management plan. Methods A multi-center, cross-sectional survey was carried out in 30 provinces of China (except for Tibet) during Oct 2015 to May 2016. It's a questionnaire-based face-to-face survey which included asthma management using peak flow meter (PFM) and pulmonary function test,medication choice of maintenance therapy and asthma education.Results A total of 3 875 asthmatic outpatients were recruited including 2 347(60.6%)females and 1 528(39.4%)males. The mean age was(50.7±16.7)years ranging from 14 to 99.Only 10.1%(388/3 837)patients used PFM as monitoring, whereas 62.1%(2 405/3 874) patients underwent pulmonary function test during the past year. There were 57.4%(2 226/3 875) patients treated with inhaled cortical steroid plus long-acting β2-agonist combinations (ICS+LABA) as daily medication. 43.3%(1 661/3 836) patients were followed up by physicians. Among this population, 1 362 asthmatic outpatients were recruited, who also took part in the asthma control survey in 2007-2008 in 10 cities.In this subgroup,17.9%(244/1 360)were tested by PFM and 66.6%(907/1 362)by pulmonary function test during last year.As to the medication,63.1%(860/1 362) selected ICS+LABA for daily control. There were 50.4%(685/1 359) patients in the follow-up cohort by physicians.Compared to the similar survey conducted in 2007-2008,the proportion of patients with ICS+LABA regimen and follow-up by physicians were markedly higher,while the rate of PFM use did not have significant improvement. Conclusion Although the present level of asthma management in China is still far from ideal, asthma management has improved compared to 8 years ago. Yet the use of PFM does not significantly improve.Asthma action plan and application of PFM should be further promoted to improve the level of asthma management.