Turner syndrome（TS），a condition among females with a karyotype containing one X chromosome and complete or partial absence of the second sex chromosome，affects 20～50 in 100 000 newborn girls. Congenital or acquired cardiovascular diseases are present in about half of patients with TS. The congenital defects occur in about 25%～50% of TS patients；aortic dilatation as an important risk factor for aortic dissection is common in adult patients with TS. Furthermore，arrhythmias are found more frequently in patients with TS. A higher prevalence of hypertension in children and adolescents with TS has also been reported，and the application of 24h ambulatory blood pressure monitoring may facilitates the diagnosis of hypertension among these children and adolescent.Thus，active health education，correct follow-up and timely intervention are crucially needed.

Objective:To characterize the histopathological subtypes and their clinicopathological parameters of gender and onset age by common, rare and sparse primary esophageal malignant tumors (PEMT).Methods:A total of 272 437 patients with PEMT were enrolled in this study, and all of the patients were received radical surgery. The clinicopathological information of the patients was obtained from the database established by the State Key Laboratory of Esophageal Cancer Prevention & Treatment from September 1973 to December 2020, which included the clinical treatment, pathological diagnosis and follow-up information of esophagus and gastric cardia cancers. All patients were diagnosed and classified by the criteria of esophageal tumor histopathological diagnosis and classification (2019) of the World Health Organization (WHO). The esophageal tumors, which were not included in the WHO classification, were analyzed separately according to the postoperative pathological diagnosis. The χ 2 test was performed by the SPSS 25.0 software on count data, and the test standard α=0.05. Results:A total of 32 histopathological types were identified in the enrolled PEMT patients, of which 10 subtypes were not included in the WHO classification. According to the frequency, PEMT were divided into common (esophageal squamous cell carcinoma, ESCC, accounting for 97.1%), rare (esophageal adenocarcinoma, EAC, accounting for 2.3%) and sparse (mainly esophageal small cell carcinoma, malignant melanoma, etc., accounting for 0.6%). All the common, rare, and sparse types occurred predominantly in male patients, and the gender difference of rare type was most significant (EAC, male∶ female, 2.67∶1), followed with common type (ESCC, male∶ female, 1.78∶1) and sparse type (male∶ female, 1.71∶1). The common type (ESCC) mainly occurred in the middle thoracic segment (65.2%), while the rare type (EAC) mainly occurred in the lower thoracic segment (56.8%). Among the sparse type, malignant melanoma and malignant fibrous histiocytoma were both predominantly located in the lower thoracic segment (51.7%, 66.7%), and the others were mainly in the middle thoracic segment.Conclusion:ESCC is the most common type among the 32 histopathological types of PEMT, followed by EAC as the rare type, and esophageal small cell carcinoma and malignant melanoma as the major sparse type, and all of which are mainly occur in male patients. The common type of ESCC mainly occur in the middle thoracic segment, while the rare type of EAC mainly in the lower thoracic segment. The mainly sparse type of malignant melanoma and malignant fibrous histiocytoma predominately occur in the lower thoracic segment, and the remaining sparse types mainly occur in the middle thoracic segment.

Objective:To investigate the nutritional status of rectal cancer patients with permanent enterostomy.Methods:From January 2019 to May 2021, the convenient sampling was used to select 180 rectal cancer patients with permanent enterostomy who were reexamined in the Outpatient Department of the First Affiliated Hospital with Nanjing Medical University as the research objects. The general information questionnaire, Patient Generated-Subjective Global Assessment (PG-SGA) and Chinese version of Ostomates' Adjustment Inventory-20 (OAI-20) were used for investigation. Pearson correlation analysis was used to explore the correlation between nutritional status and stoma adaptation level. A total of 180 questionnaires were distributed and 173 valid questionnaires were recovered, with an effective recovery rate of 96.11%.Results:The total score of PG-SGA and OAI-20 were respectively (7.85±3.23) and (41.89±2.48) among 173 rectal cancer patients with permanent enterostomy and 138 patients were malnourished and 35 patients were well nourished. There were statistically significant differences in age, stoma complications, history of chemotherapy and stoma adaptation between the malnutrition group and the well-nutrition group ( P<0.05) . Pearson correlation analysis showed that the total score of OAI-20 was negatively correlated with the total score of PG-SGA in rectal cancer patients with permanent enterostomy ( r=-0.723, P<0.01) . Conclusions:The nutritional status of rectal cancer patients with permanent enterostomy is poor, and the nutritional status is related to the level of stoma adaptation.

Objective:To explore the prolonged therapeutic regimen for patients with plaque psoriasis, who showed a positive response to 4-week treatment with tazarotene/betamethasone dipropionate cream, but were not completely cured.Methods:A multicenter, randomized, open-labelled, parallel-controlled clinical study was conducted. A total of 232 patients with plaque psoriasis were collected, who showed a positive response to previous 4-week treatment with 0.05%/0.05% tazarotene/betamethasone dipropionate cream, but were not completely cured with the psoriasis area and severity index[PASI] improvement rate being 50%-90%. At week 5, they were randomly and equally divided into 2 groups: test group receiving treatment with 0.05%/0.05% tazarotene/betamethasone dipropionate cream once a day, and control group receiving a sequential regimen of 0.05% tazarotene gel on weekdays once a day followed by 0.05%/0.05% tazarotene/betamethasone dipropionate cream on weekends once a day. After 2-and 4-week prolonged treatment, the efficacy and safety of the 2 therapeutic regimens were evaluated and compared. Measurement data were compared between 2 groups by using covariance analysis or t test, and enumeration data were compared by using chi-square test. Results:From the 5th to the 8th week, 200 out of the 232 patients completed the treatment. Data collected from 110 patients in the test group and 112 in the control group were enrolled into the full analysis set, and those from both 113 patients in the test group and control group were enrolled into safety analysis set. After consecutive 6-and 8-week treatment, the decline rates of the PASI score were 73.05% ± 16.69% and 78.46% ± 15.40% respectively in the test group, which were significantly higher than those in the control group (66.73% ± 21.77%, 67.02% ± 34.19%, respectively, both P < 0.05) . After 6-week treatment, the proportion of subjects who achieved PASI90 was significantly higher in the test group (14 cases, 12.7%) than in the control group (5 cases, 4.5%, χ2=4.842, P=0.028) ; After 8-week treatment, the proportions of subjects who achieved PASI75 and PASI90 (61.8%, 23.6%, respectively) were significantly higher in the test group than in the control group (48.2%, 12.5%, respectively, both P < 0.05) . During the consecutive 8-week treatment, there was no significant difference in the incidence rate of adverse reactions between the test group (15.0%) and control group (23.9%, χ2=2.822, P=0.093) . Conclusion:For patients who showed a positive response to 4-week treatment with 0.05%/0.05% tazarotene/betamethasone dipropionate cream, but were not completely cured, the continuous use of 0.05%/0.05% tazarotene/betamethasone dipropionate cream for 4 weeks is a superior therapeutic regimen compared with the sequential regimen of 0.05% tazarotene gel followed by 0.05%/0.05% tazarotene/betamethasone dipropionate cream.

OBJECTIVE: To compare the image quality of three-dimensional time-of-flight (TOF) magnetic resonance angiography (MRA) with sparse undersampling and iterative reconstruction (sparse TOF) with that of conventional TOF MRA. MATERIALS AND METHODS: This study included 56 patients who had undergone sparse TOF MRA for intracranial artery evaluation on a 3T MR scanner. Conventional TOF MRA scans were also acquired from 29 patients with matched acquisition times and another 27 patients with matched scanning parameters. The image quality was scored using a five-point scale based on the delineation of arterial vessel segments, artifacts, overall vessel visualization, and overall image quality by two radiologists independently, and the data were analyzed using the non-parametric Wilcoxon signed-rank test. Contrast ratios (CRs) of vessels were compared using the paired t test. Interobserver agreement was calculated using the kappa test. RESULTS: Compared with conventional TOF at the same spatial resolution, sparse TOF with an acceleration factor of 3.5 could reduce acquisition time by 40% and showed comparable image quality. In addition, when compared with conventional TOF with the same acquisition time, sparse TOF with an acceleration factor of 5 could also achieve higher spatial resolution, better delineation of vessel segments, fewer artifacts, higher image quality, and a higher CR (p < 0.05). Good-to-excellent interobserver agreement (κ: 0.65–1.00) was obtained between the two radiologists. CONCLUSION: Compared with conventional TOF, sparse TOF can achieve equivalent image quality in a reduced duration. Furthermore, using the same acquisition time, sparse TOF could improve the delineation of vessels and decrease image artifacts.
Acceleration ; Arteries ; Artifacts ; Humans ; Magnetic Resonance Angiography

Objective To compare the rates of regimen modification between patients with different initial antiretroviral therapy, and to investigate risk factors associated with drug toxicity-related regimen modification.Methods A two-years retrospective cohort study was conducted in 14 060 patients who initiated antiretroviral treatment with Zidovudine (AZT)/Tenofovir disoproxil (TDF)+Lamivudine (3TC)+Efavirenz (EFV) since 2012.There were 5 126 patients initiated TDF+3TC+EFV therapy (TDF group) and 8 934 patients initiated AZT+3TC+EFV therapy (AZT group).Chi-square test was used to compare the rate of first-line regimen modification and the rate of toxicity-related regimen modification between two groups.Cox proportional hazard model was used to investigate the risk factors associated with regimen modification.Results A total of 14 060 acquired immunodeficiency syndrome patients were observed for a median period of 1.85 person-years.There were 2 795 patients who changed their initial antiretroviral regimen and the rate of initial regimen modification was 19.9%.Two hundred patients who changed their initial regimen due to pregnancy were excluded.There were 2 070 patients in AZT group who changed their initial regimen with a rate of 23.5%.Among them, 1 652 patients changed their regimen due to drug toxicity and the rate was 18.8%.There were 525 patients in TDF group who changed their initial regimen with a rate of 10.4% and the rate of toxicity-related regimen modification was 6.2%.The differences between two groups were statistical significance (χ2=366.68 and 416.89, respectively, both P<0.01).The risk of regimen modification in AZT group were significantly higher than that in TDF group (aHR=2.89, 95%CI: 2.57-3.24).The risk of toxicity-related regimen modification in AZT group was also significantly higher than that in TDF group (aHR=3.85, 95%CI: 3.34-4.45).Conclusions Patients initiated antiretroviral treatment with AZT+3TC+EFV are more likely to change their initial regimen than those who initiated treatment with TDF+3TC+EFV.Female, age >45 years old, BMI<18.5 kg/cm2 and baseline CD4+ T cell count<200/mL were risk factors associated with regimen modification.

Objective Design short stature panel with gene curration strategy.Methods The gene curation process was introduced in detail.The strength of a gene-disease relationship was evaluated based on publicly available genetic and experimental evidence.This process in short stature panel design and its effect on gene selection was further demonstrated.Results After gene curation, the number of gene in list was effectively decreased from 1 276 to 705.The panel sequencing reached a diagnosis rate of 19.7% among a cohort of 371 nation-wide ascertained short stature patients.The gene curation process reduced the risk of false positive findings and decreased diagnostic cost and working hours without affecting the diagnosis rate.Conclusion Gene curation is an important step for NGS-based test and should be widely exercised.

The protective efficacy of DNA plasmids encoding avian infectious bronchitis virus (IBV) S1, N, or M protein was investigated in chickens. Chickens were inoculated monovalently (with plasmid pVAX1-16S1, pVAX1-16M, or pVAX1-16N alone) or multivalently (combination of the three different plasmids, pVAX1-16S1/M/N). A prime-boost immunization protocol against IBV was developed. Chickens were immunized with the multivalent DNA vaccine twice and then boosted with an inactivated vaccine once. Antibody titers of the chickens immunized with pVAX1-16S1/M/N were much higher than those of the monovalent groups (p < 0.01). A protective rate up to 90% was observed in the pVAX1-16S1/M/N group. The serum antibody titers in the prime-boost birds were significantly higher than those of the multivalent DNA vaccine group (p < 0.01) but not significantly different compared to the inactivated vaccine group at 49 days of age. Additionally, the prime-boost group also showed the highest level of IBV-specific cellular proliferation compared to the monovalent groups (p < 0.01) but no significant difference was found compared to the multivalent DNA vaccine group, and the prime-boost group completely protected from followed viral challenge.
Aging ; Animals ; Antibodies, Viral/blood ; Cell Proliferation ; Chickens ; Coronavirus Infections/prevention & control/*veterinary/virology ; Immunization, Secondary/veterinary ; Infectious bronchitis virus/*immunology ; Poultry Diseases/*prevention & control/virology ; T-Lymphocyte Subsets/cytology/physiology ; Vaccines, DNA/immunology ; Vaccines, Inactivated/immunology ; Viral Vaccines/*immunology

Objective To investigate the effect of maternal deprivation (MD) on neurobehavior and PP1Cγgene expression in hippocampus. Methods Male pups were randomly divided into MD group(thirty-five)and control group(twenty-four). From PND 1 to PND 21 ,pups in the MD groups underwent daily maternal deprivation for 3 h ( Postnatal day). Neurobehavior was observed to investigate neurodevelopment, Morris water maze was used to measure spatial learning and memory,and Real-Time quantitative PCR was employed to analyze PP1Cγ gene expression. Results Several significant deficiencies were observed in bodyweight and grasping reflex while a great enhancement in hot-plate test in rat pups suffering from MD( (26.23 ± 2.81 )g vs. (30. 38 ± 3.85 )g;( 19.37 ± 11.89) s vs. (22.39 ± 17.62 ) s; (4.36 ± 1.76 ) s vs. ( 5.26 ± 2.55 ) s; P ＜ 0. 05 ), but deficiencies in neurological reflexes were subtle ( ( 0.83 ±- 0.30 ) s vs. ( 0. 83 ± 0. 34 ) s; ( 3.68 ± 1.63 ) s vs. ( 5.61 ± 3. 01 ) s;( 3.00 ± 0.00 ) vs. ( 3.00 ± 0. 00); P ＞ 0. 05 ). MD had a subtle influence on spatial learning and memory (P ＞0.05). Meanwhile,MD could lead to PP1Cγ expression down-regulation on PND 22 ( (2.19 ±0.62) vs. (3.52 ±0.86), P＜0. 05)which was in line with early neurobehavior results. No difference was found compared with MD group and control group on PND60 ( ( 1.73 ± 0. 78 ) vs. ( 1.33 ± 0. 34); P ＞ 0.05 ). However, there was the up-regulation of PP1Cγexpression on PND 90 ( (2.85 ± 0. 34) vs. ( 1.34 ± 0.93 ); P ＜ 0.05 ). Conclusion MD alters early neurobehavior and hippocampal PP1Cγgene expression in the Wistar rats,but has a subtle effect on learning and memory. At the same time,MD can make PP1Cγexpression in the hippocampus varying with the age.

Objective To explore the value of transthoracic echocardiography (TTE) and transesophageal echocardiography (TEE) in diagnosing adult multiple atrial septal defect (MASD). Methods Thirty adult patients with MASD were examined with TTE, 25 patients were examined also with TEE, 26 patients were examined with cardiac catheterization as well. Transcatheter closure of MASD was performed in 20 patients and succeeded in 18, while open-chest operation was performed in 4 patients. Results Foramen secundum atrial septal defect was diagnosed with both TTE and TEE with an accuracy rate of 60.00% (18/30) and 96.00% (24/25), respectively. The main color Doppler flow imaging (CDFI) feature of adult MASD was multiple colorful left-to-right shunt signals through the atrial septal designated, i.e. colander sign of CDFI. Conclusion TTE has some difficulties and TEE has specific value in diagnosing adult MASD. TTE can be used before open-chest operation. TEE is necessary before transcatheter occlusion to make sure of the amount and location of atrial septal defect.