A child aged 5 years with pulmonary arterial hypertension was admitted to the First Affiliated Hospital of Xiamen University in December 2017. A truncated mutation in the bone morphogenetic protein receptor 2 (BMPR2) gene [Chr2(GRCh37):g.203395656delA] was detected, which might be responsible for the disease and the diagnosis of hereditary pulmonary arterial hypertension (HPAH) was confirmed. Genetic testing revealed that the child′s father also carried the same mutation in BMPR2 gene, but no gene mutation was detected in child′s mother and young brother; however, no HPAH was developed in child′s father and other family members. The child was treated with targeted drugs for pulmonary arteries with poor response, and died in April 2019. Later, the child′s mother accidentally became pregnant. Gene sequencing test of the amniotic fluid showed that the fetus also carried the BMPR2 gene mutation; the pregnancy was terminated after genetic counseling. HPAH has the clinical characteristics of early onset, rapid progression, and poor prognosis, and the BMPR2 gene mutation is an important pathogenic factor. For HPAH patients with unknown etiology, particularly for pediatric patients, genetic testing is recommended to identify the cause and to make an appropriate clinical management plan.

A child aged 5 years with pulmonary arterial hypertension was admitted to the First Affiliated Hospital of Xiamen University in December 2017. A truncated mutation in the bone morphogenetic protein receptor 2 (BMPR2) gene [Chr2(GRCh37):g.203395656delA] was detected, which might be responsible for the disease and the diagnosis of hereditary pulmonary arterial hypertension (HPAH) was confirmed. Genetic testing revealed that the child′s father also carried the same mutation in BMPR2 gene, but no gene mutation was detected in child′s mother and young brother; however, no HPAH was developed in child′s father and other family members. The child was treated with targeted drugs for pulmonary arteries with poor response, and died in April 2019. Later, the child′s mother accidentally became pregnant. Gene sequencing test of the amniotic fluid showed that the fetus also carried the BMPR2 gene mutation; the pregnancy was terminated after genetic counseling. HPAH has the clinical characteristics of early onset, rapid progression, and poor prognosis, and the BMPR2 gene mutation is an important pathogenic factor. For HPAH patients with unknown etiology, particularly for pediatric patients, genetic testing is recommended to identify the cause and to make an appropriate clinical management plan.

Objective:To analyze the effect of Anluo Huaxian pill combined with entecavir on hepatic fibrosis in patients with non-alcoholic fatty liver disease (NAFLD) complicated with chronic hepatitis B (CHB).Methods:A total of 94 patients with NAFLD combined with CHB diagnosed and treated in Binzhou Central Hospital from May 2020 to May 2022 were retrospectively selected and divided into experimental group (47 cases) and control group (47 cases) according to different treatment methods. Patients in both groups received entecavir treatment, and the experimental group received entecavir treatment combined with Anluo Huaxian pill. The clinical treatment effect, the change of traditional Chinese medicine (TCM) symptoms score, liver fibrosis index levels and liver function index levels were compared between the two groups.Results:After treatment, the total clinical effective rate in the experimental group was higher than that in the control group: 91.49%(43/47) vs. 72.34%(34/47), there was statistical difference ( χ2 = 5.82, P<0.05). After treatment, the total scores of the main disease, the total scores of the secondary disease and the total scores of TCM symptoms in the experimental group were lower than those in the control group: (5.26 ± 1.02) scores vs. (6.05 ± 1.21) scores, (3.12 ± 0.59) scores vs. (3.58 ± 0.65) scores, (8.38 ± 1.61) scores vs. (9.63 ± 1.86) scores, there were statistical differences ( P<0.05). After treatment, the levels of glutamyl transpeptidase, alanine aminotransferase, total bilirubin and aspartate aminotransferase, type Ⅳ collagen, type Ⅲ procollagen, hyaluronic acid and laminin in the experimental group were lower than those in the control group: (35.24 ± 1.95) U/L vs. (38.47 ± 2.21) U/L, (23.18 ± 3.24) U/L vs. (25.56 ± 3.58) U/L, (14.25 ± 1.87) μmol/L vs. (15.48 ± 2.06) μmol/L, (30.43 ± 1.78) U/L vs. (34.51 ± 2.14)U/L, (115.27 ± 11.85) μg/L vs. (126.58 ± 12.34) μg/L, (98.75 ± 10.42) μg/L vs. (117.25 ± 11.81) μg/L, (87.51 ± 7.63) μg/L vs. (93.05 ± 8.54) μg/L, (114.65 ± 9.86) μg/L vs. (127.49 ± 10.74) μg/L, there were statistical differences ( P<0.05). Conclusions:Anluo Huaxian pill combined with entecavir in the treatment of NAFLD complicated with CHB has obvious therapeutic effect, which can effectively improve the TCM symptoms score, liver function index levels and prevent liver fibrosis.

Objective To analyze three-dimensional(3D)radiographic characterizations of bone island(BI)in jaw using cone-beam computed tomography(CBCT).Methods CBCT data from four thousand patients were selected,reconstructed and analyzed using NNT 10.0 software.The sagittal,coronal and axial planes were used to analyze the 3D radiographic characteristics of BIs,including the localization,shape,density,boundary,the relationship between BIs and tooth and bone cortex,diameter and anatomical structures and complications involved.Their relationship with gender were analyzed.Results A total of 803 people had BIs,with the prevalence rate of 20.08%,including 338 males with 389 BIs and 465 females with 526 BIs.Both males and females had a dominant BI,and the ratio between male and female was 1∶1.38,but the difference was not statistically significant(P＞0.05).The BIs of both male and female mostly occurred in the mandibular premolars and molars area,and appeared irregular in shape,dense and contact with lingual bone cortex.Mostly BIs were apical type and with unclear boundary.The mean maximum diameter of mesial/distal direction was greater than buccal/lingual direction(P＜0.05).The most commonly involved anatomy structure was the inferior alveolar neural canal,cortical infil-tration and mental foramen.Conclusion There are no significant differences between males and females in the three-dimensional image characteristics of BIs in Chinese populations.CBCT can accurately and comprehensively analyze the 3D radiographic characteris-tics of BI and its relationship with the surrounding teeth and bone.

Objective: To explore the impact of knocking out wildtype p53 phosphatase 1 gene on heart function with the changes of cardiac tissue mRNA and protein expressions in experimental mice. Methods: Our research included in 2 groups: Wildtype (WT) mice group and Wip1 knockout (Wip1-KO) mice group. n=10 in each group. The heart function, ratio of heart weight to body weight (HW/BW) were examined and compared between 2 groups; cardiac tissue morphology was observed by HE staining; mRNA expressions of ANP, BNP, MCP-1 andα-SMA were determined by RT-PCR and protein expressions of Bcl-2, Bax and c-caspase3 were measured by Western blot analysis. Results: Compared with WT mice group, Wip1-KO mice group showed decreased Wip1 mRNA expression,P<0.05, decreased LVEF, LV fraction shortening and increased left ventricular end systolic diameter (LVESD), allP<0.05; Wip1-KO mice group had reduced BW and elevated ratio of HW/BW, bothP<0.05 even the heart weight was similar between 2 groups. There was no difference in cardiac tissue morphology between 2 groups; mRNA expressions of ANP, BNP, MCP-1 and α-SMA were similar between 2 groups,P>0.05; apoptosis related protein expressions of Bax/Bcl-2 and c-caspase3 were similar between 2 groups,P>0.05. Conclusion: Wip1 gene knockout may impair the heart function in experimental mice, while the relevant mechanism should be further investigated.

Objective To investigate the meridians and acupoints selection in the treatment of post-stroke spastic paralysis with Tuina (Chinese massage). Methods The literatures about Tuina therapy for post-stroke spastic paralysis were retrieved. The frequency of meridians and acupoints used was counted and analyzed. Results 99 papers were collected, which involved in 226 acupoints and 1602 times of application. The selected acupoints were distributed in all the fourteen meridians and 64.5% (1033/1602, 606 on upper limb, 427 on lower limb) of them were on the limbs. The acupoints of the Yang meridians was 75.0% (1200/1602) and the specific acupoints was 71.7% (1148/ 1602). Conclusion The acupoint selected was basically focused on the local areas in Tuina for post-stroke spastic paralysis, assisted with the involved meridians and distal acupoints. The acupoints of the Yang meridians were the first option, mainly on the extremities. The specific acupoints were the major components of the prescription, especially the Five-shu acupoints and the He acupoints.

Objective To identify potential linkage of cholesterol efflux with the expressions of ATP-binding cas-sette receptor A1 (ABCA1), ABCG1 and scavenger receptor B1 (SR-B1) in monocytes derived macrophages of patients with type 2 diabetes mellitus. Methods and Results Blood was collected from subjects with or without type 2 diabetes mellitus. Peripheral blood monocytes were differentiated for 72 hours into macrophages, and cholesterol efflux assays, Real-time quantitative PCR and western blot were performed. Macrophages from patients with type 2 diabetes mellitus showed a reduction in cholesterol efllux. The mRNA and protein expressions of ABCG1 in macrophages from patients with type 2 diabetes mellitus were significantly reduced. In contrast, the expression of ABCA1 and SR-B1 was not significantly different in both control subjects and diabetic patients. In addition, cellular cholesterol efflux from macrophages to autologous serum and pool serum was significantly correlated with the expression of ABCG1. Conclusion ABCG1 expression and cholesterol efflux are reduced in patients with type 2 diabetes mellitus. This impaired cholesterol efflux significantly correlates with decreased expression of ABCG1.

Objective To examine the effects of high-density lipoprotein(HDL) and lipoprotein-deficient serum(LPDS) isolated from patients with type 2 diabetes mellitus on cholesterol efflux through human skin fibroblast(HSF) and human hepatoma cell line(HepG2).Methods and Results Blood was collected from 13 patients with type 2 diabetes mellitus and 17 healthy volunteers,HDL and LPDS were isolated.Cholesterol efflux assays,RT-PCR and Western blot were performed with HSF and HepG2 cells.The HepG2 cells showed a high expression of scavenger receptor B1(SR-B1) and lack of functional ATP-binding cassette receptor A1(ABCA1) and ATP-binding cassette receptor G1(ABCG1) while HSF cells express SR-B1 at very low level and have a high expression of ABCA1 pretreated with 22-OH cholesterol.The cholesterol efflux from HepG2 cells to HDL isolated from patients with diabetes decreased significantly as compared to controls.However,cholesterol efflux from HSF cells to LPDS was not different between groups.Conclusion The function of HDL involving cholesterol efflux in type 2 diabetes mellitus was impaired while cholesterol efflux induced by LPDS from HSF cells was maintained,suggesting that HDL plays a critical role in mediation of intracellular cholesterol accumulation and progression of atherosclerosis inpatients with type 2 diabetes.

Objective To explore the mechanisms responsible for different coronary artery lesions with involvement of nitric oxide(NO),endothelin-1(ET-1),matrix metalloproteinases-9(MMP-9) and the matrix metalloproteinase inhibitor-1(TIMP-1).Methods The cases undergone coronary anography were collected and divided into three groups:group A,30 patients with the coronary artery ectasia(7 cases of simple coronary artery ectasia;18 cases of the coronary artery ectasia coexisting a small amount of plaque);group B,38 patients with coronary atherosclerosis;group C,32 patients with with normal angiograph(14 cases of coronary artery completely normal;18 cases with a small amount of coronary plaque only).Plasma NO,ET-1,MMP-9 and TIMP-1 level were measured by ELISA method.Results There are significant differences among three groups on NO level,MMP-9 levels,NO/ET-1 and MMP-9/TIMP-1(P

Objective To identify potential linkage of cholesterol efflux with the expressions of ATP-binding cassette receptor A1(ABCA1),ABCG1 and scavenger receptor B1(SR-B1) in monocytes derived macrophages of patients with type 2 diabetes mellitus.Methods and Results Blood was collected from subjects with or without type 2 diabetes mellitus.Peripheral blood monocytes were differentiated for 72 hours into macrophages,and cholesterol efflux assays,Real-time quantitative PCR and western blot were performed.Macrophages from patients with type 2 diabetes mellitus showed a reduction in cholesterol efflux.The mRNA and protein expressions of ABCG1 in macrophages from patients with type 2 diabetes mellitus were significantly reduced.In contrast,the expression of ABCA1 and SR-B1 was not significantly different in both control subjects and diabetic patients.In addition,cellular cholesterol efflux from macrophages to autologous serum and pool serum was significantly correlated with the expression of ABCG1.Conclusion ABCG1 expression and cholesterol efflux are reduced in patients with type 2 diabetes mellitus.This impaired cholesterol efflux significantly correlates with decreased expression of ABCG1.