Penicillium marneffei infection after renal transplantation: one case report / 中华器官移植杂志

Clinical data were retrospectively reviewed for one case of penicillium marneffei infection after renal transplantation (RT) to explore a proper management of peniciliosis marneffei (PSM)transplantation.This case had a history of pulmonary tuberculosis and underwent RT due to uremia.After discharging, postoperative recovery was excellent.Recurrent cough occurred at Month 7 post-operation.Fiberoptic bronchoscopy and pulmonary CT indicated a possibility of pulmonary tuberculosis.However, a definite diagnosis of PSM was confirmed by next generation sequencing (NGS) and pathogenic bacteria culture of alveolar lavage fluid.After adjusting immunosuppressive agents and regular antifungal treatment with voriconazole, respiratory symptoms improved and pulmonary CT hinted at a resorption of lesion.Features of pulmonary CT and bronchoscopic examination were nearly similar to those of tuberculosis.Thus early bacterium culture and NGS may aid an definite diagnosis.Voriconazole is an effective treatment of the disease.

Five patients with 11β-hydroxylase deficiency due to CYP11B1 gene mutation: A case study / 中华内分泌代谢杂志

Objective:To investigate the clinical and molecular characteristics of 11β-hydroxylase deficiency(11β-OHD) to improve the understanding of this disorder.Methods:The clinical manifestation, hormone level, imaging examination, characteristics of gene variation and follow-up of five patients with 11β-OHD diagnosed in Henan Children′s Hospital from 2016 to 2021 were carefully reviewed.Results:Among the 5 children, 3 were male and 2 were female, all without positive family history. The age at diagnosis was 1 year 5 months to 7 years(average 3 years and 9 months), and the bone age was 3 years 6 months to 16 years(average 10 years and 3 months). Two cases were misdiagnosed as 21-hydroxylase deficiency(21-OHD) and treated with long-term mineralocorticoids. Three patients presented with hypertension and one patient had testicular adrenal rest tumor. Adrenal CT showed bilateral adrenal hyperplasia in five patients. ACTH, 17-hydroxyprogesterone, testosterone, and androstenedione levels were increased in 5 children, and hypokalemia occurred in 1 patient. One patient carried homozygous novel missense variant, and four patients had compound heterozygous variants. Four patients carried missence mutations, two patients had deletion and one patient harbored a chimeric CYP11B2 exon1-6/CYP11B1 exon7-9. Three novel CYP11B1 mutations, including c. 1385T>C(p.L462P), c.64C>T(p.Q22*)and c. 1354G>A(p.G452R) were identified. The final height of 2 male children were 164.4 cm and 150.2 cm, respectively, and the related hormone levels of the other 3 children were normal.Conclusion:11β-OHD is easily misdiagnosed, leading to severe impairment of final height. CYP11B1 gene variation is complex and diverse, which requires variety of gene detection methods.

Diquafosol sodium combined with intense pulsed light in the treatment of meibomian gland dysfunction / 国际眼科杂志(Guoji Yanke Zazhi)

AIM:To investigate the effect of 3% diquafosol sodium eye drops combined with intense pulsed light on the treatment of meibomian gland dysfunction and the change of meibomian glands.METHODS: Prospective study. A total of 141 patients(282 eyes)who were diagnosed with meibomian gland dysfunction from January 2021 to May 2022 in our hospital were selected and they were randomly divided into the control group(73 cases, 146 eyes)and the observation group(68 cases, 136 eyes)according to random number table. The control group was given 0.3% sodium hyaluronate eye drops combined with intense pulsed light, and the observation group was treated with 3% diquafosol sodium eye drops combined with intense pulsed light. The subjective symptom score, physical sign score, non-invasive tear break-up time, tear meniscus height, lipid layer thickness, and meibomian gland density before and after the treatment were compared between the two groups at 2wk after the end of treatment.RESULTS: There were no differences in the subjective symptom score, physical sign score, non-invasive tear break-up time, tear meniscus height, lipid layer thickness, and meibomian gland density between the two groups of patients before treatment(P>0.05). After 2wk of treatment, the symptom scores and physical sign scores of patients in the two groups continued to decrease, non-invasive tear break-up time and lipid layer thickness continued to increase, and the meibomian gland density also increased. The tear meniscus height in the observation group increased, while the control group showed no significant changes. The observation group had better clinical indicators than the control group(P<0.05). No obvious complications were observed in all patients.CONCLUSION: The combination of diquafosol sodium eye drops and intense pulsed light is synergistic in the treatment of meibomian gland dysfunction, with significant therapeutic effects and improvement of meibomian gland repair, which is significantly superior to simple intense pulsed light therapy.

Bis (2-butoxyethyl) Phthalate Delays Puberty Onset by Increasing Oxidative Stress and Apoptosis in Leydig Cells in Rats / 生物医学与环境科学（英文）

OBJECTIVE@#This study investigated the effects of bis (2-butoxyethyl) phthalate (BBOP) on the onset of male puberty by affecting Leydig cell development in rats.@*METHODS@#Thirty 35-day-old male Sprague-Dawley rats were randomly allocated to five groups mg/kg bw per day that were gavaged for 21 days with BBOP at 0, 10, 100, 250, or 500 mg/kg bw per day. The hormone profiles; Leydig cell morphological metrics; mRNA and protein levels; oxidative stress; and AKT, mTOR, ERK1/2, and GSK3β pathways were assessed.@*RESULTS@#BBOP at 250 and/or 500 mg/kg bw per day decreased serum testosterone, luteinizing hormone, and follicle-stimulating hormone levels mg/kg bw per day (P < 0.05). BBOP at 500 mg/kg bw per day decreased Leydig cell number mg/kg bw per day and downregulated Cyp11a1, Insl3, Hsd11b1, and Dhh in the testes, and Lhb and Fshb mRNAs in the pituitary gland (P < 0.05). The malondialdehyde content in the testis significantly increased, while Sod1 and Sod2 mRNAs were markedly down-regulated, by BBOP treatment at 250-500 mg/kg bw per day (P < 0.05). Furthermore, BBOP at 500 mg/kg bw per day decreased AKT1/AKT2, mTOR, and ERK1/2 phosphorylation, and GSK3β and SIRT1 levels mg/kg bw per day (P < 0.05). Finally, BBOP at 100 or 500 μmol/L induced ROS and apoptosis in Leydig cells after 24 h of treatment in vitro (P < 0.05).@*CONCLUSION@#BBOP delays puberty onset by increasing oxidative stress and apoptosis in Leydig cells in rats.@*UNLABELLED@#The graphical abstract is available on the website www.besjournal.com.

Correlation between different types of malocclusions and body image issues in college students / 中国学校卫生

Objective@#To explore the correlation between malocclusion and body image issues in college students.@*Methods@#A total of 1 851 students in three universities in Jingmen were selected by using stratified cluster sampling method. Angle s classification of malocclusion was used to determine the number of three types of malocclusions. Body image issues were self reported and its relationship with different types of malocclusions was explored.@*Results@#The proportions of Classes Ⅰ, Ⅱ and Ⅲ malocclusion in college students with malocclusion were 71.21%, 16.32%, and 12.47%, respectively. The detection rates of body image issues among students with Classes Ⅰ,Ⅱ and III malocclusions were 36.64%, 54.78% and 65.83%, respectively. No significant difference were found in the detection rates of sexual organ issues and gender issues in college students with different types of malocclusions( χ 2= 0.75, 0.53, P >0.05). There were significant differences in the detection rates of appearance troubles (27.59%, 33.12%, 50.83% ) and stature troubles ( 24.09% , 31.21%, 44.17%) in students with Classes Ⅰ, Ⅱ and Ⅲ malocclusions( χ 2=5.62, 2.89, P <0.05).@*Conclusion@#The prevalence of body image issues in college students increases with severity of malocclusions. Appearance and stature troubles are issues mostly concerned among college students. Psychological evaluation for students with Class Ⅲ malocclusion should be especially emphasized when administrating orthodontic treatment.

Analysis on disease burden of occupational coal workers′ pneumoconiosis in Anhui Province / 中国职业医学

@# Objective To analyze the disease burden caused by occupational coal workers' pneumoconiosis (CWP) in Anhui Methods Province. A total of 1 649 patients with occupational CWP diagnosed in Anhui Province from 1950 to 2019 were selected as the study subjects using a retrospective study method. Age, gender, survival time, location, working age of disease onset, age of death, stage and date of diagnosis of CWP, comorbidities at the time of investigation, hospitalization and outpatient expenses in the past year, cost of absence from work, cost of absence from work of caregivers, and cost of nutrition and transportation were investigated. The years of life lost, years lived with disability (YLDs), disability adjusted life years (DALYs) Results and economic losses were calculated. Among these patients, 1 405 cases survived and 244 cases died. In the age range - - - of 20.0 70.0 years, the YLDs of surviving patients were 2.12 22.20 (8.19±3.59) person years. The YLDs of patients with disease vs - P complications was higher than that of patients without complications [(8.55±3.95) (7.87±3.21) person years, <0.01]. The total - - DALYs of the patients was 14 031.59 person years, and the average per capita DALYs was 8.51 person years. Its YLDs accounted for 82.0 % of the total DALYs. The total economic loss caused by CWP in the 1 405 surviving patients was 354.903 0 Conclusion million yuan, and the average per capita economic loss was 252 600 yuan. The disease burden caused by CWP is relatively high in Anhui Province. In addition to early detection, diagnosis and treatment, it is necessary to focus on prevention and treatment of CWP complications to reduce the disease burden.

Changing trend of incidence and mortality of stomach cancer during 2010-2016 in Henan Province, China / 中华肿瘤杂志

Objective: To estimate stomach cancer incidence and mortality in Henan, 2016 and analyze the trend of stomach cancer incidence and mortality from 2010 to 2016. Methods: Stomach cancer related data in 2016 was extracted from Henan cancer registration and follow-up system. All data were qualified in validity, reliability and completeness according to the Guideline on Cancer Registration in China and International Agency for Research on Cancer (IARC/IACR). The incidence and mortality of stomach cancer were estimated by areas, gender and age based on the quality data and the registered population data of Henan province in 2016. The epidemic trend of stomach cancer was also been evaluated based on the age-standardized incidence and mortality by Chinese population (ASR China) from 2010 to 2016. Results: In 2016, the estimated incident cases of stomach cancer were 44 311. The incidence was 41.07/100 000, ASR China was 30.17/100 000, ASR by world population (ASR world) was 30.36/100 000, and the cumulative incidence rate was 3.84%. The incidences of male and female were 55.65/100 000 and 25.35/100 000, respectively. Meanwhile, 32 927 people died of stomach cancer in Henan. The mortality was 30.52/100 000, ASR China was 21.45/100 000, ASR world was 21.54/100 000, and the cumulative mortality was 2.53%. From 2010 to 2016, both the ASR China for incidence and mortality of stomach cancer in Henan showed a steady downward trend. In rural, the ASR China for incidence and mortality decreased rapidly, while the stable trend was observed in urban. Nevertheless, the incidence and mortality of stomach cancer in rural were still higher than those in urban. Conclusions: The incidence and mortality of stomach cancer in Henan province showed steadily declining trend from 2010 to 2016, and the geographical distribution difference between rural and urban areas was gradually narrowing. However, the disease burden was still high in 2016.

Changing trend of incidence and mortality of esophageal cancer during 2010-2016 in Henan Province, China / 中华肿瘤杂志

Objective: To estimate the incidence and mortality of esophageal cancer in 2016 and their changing trend during 2010-2016 according to the cancer registration data in Henan province. Methods: The data quality including completeness, validity, and reliability of local registries which submitted the cancer registration data of 2016 were assessed according to the criteria of Guideline on Cancer Registration in China and IARC/IACR. Esophageal cancer cases (ICD10: C15) were extracted from the database, and the incidence and mortality stratified by gender, age, and areas (urban/rural) were calculated, the incidence and mortality of provincial cancer were estimated combined with provincial population data. China's 2000 census population and Segi's population were used to calculate the age-standardized rate. Joinpoint model was used to estimate the changing trend of age standardized incidence and mortality along with the calendar year. Results: Approximately 40.10 thousand new esophageal cancer cases were diagnosed in Henan in 2016, accounting for 13.46% of all new cancer cases, and it ranked the third among cancer of all sites. The crude incidence of esophageal cancer was 37.21/100 000 with an age-standardized incidence rate by China standard population (ASIRC) of 26.74/100 000 and an age-standardized incidence rate by world standard population (ASIRW) of 27.12/100 000. The incidence of esophageal cancer in males was higher than that in females, with the ASIRC of 34.53/100 000 and 19.19/100 000, respectively. It was higher in rural areas than that in urban areas, with the ASIRC of 28.13/100 000 and 20.90/100 000, respectively. About 29.30 thousand deaths of esophageal cancer in Henan in 2016, accounting for 15.61% of all cancer deaths in Henan, which ranked the third among cancer of all sites. The crude mortality rate was 27.14/100 000 with an age-standardized mortality rate by China standard population (ASMRC) of 18.74/100 000 and an age-standardized mortality rate by world standard population (ASMRW) of 18.78/100 000. The mortality in males was higher than that in females, with the ASMRC of 24.78/100 000 and 13.12/100 000, respectively. It was also higher in rural areas than that in urban areas, with the ASMRC of 19.48/100 000 and 15.73/100 000, respectively. The ASIRC and ASMRC were declining with annual percent change (APC) of 3.12% (APC=-3.12%; 95%CI: -5.30%, -0.90%; P=0.015) and 2.47% (APC=-2.47%; 95%CI: -4.70%, -0.20%; P=0.039) during 2010-2016. However, the significant declining trend was only observed in rural areas in Henan, and the changing trend was same between males and females. Conclusions: The incidence and mortality of esophageal cancer are declining since 2010, however, the disease burden remains large in Henan. Therefore, comprehensive prevention and control efforts should be strengthened according to its epidemic characteristics and risk factors.

Predictive value of microvessel density and lymphatic vessel density in pancreatic cancer tissue for tumor distant metastasis within 1 year after surgery / 中华胰腺病杂志

Objective:To investigate the value of counting microvessel density (MVD) and lymphatic vessel density (LVD) in predicting distant metastasis of pancreatic cancer within 1 year after surgery.Methods:The clinicopathological data of 47 patients with pancreatic cancer who underwent surgery in Laibin People's Hospital from January 2020 to December 2021 were retrospectively analyzed. The patients were divided into non-metastasis group( n=24) and metastasis group( n=23) according to whether distant metastasis occurred during 1-year follow-up. Immunohistochemistry was used to detect the CD 34 expression in microvascular epithelial cells and D2-40 level in lymphatic epithelial cells from pancreatic cancer tissues. MVD and LVD in cancer tissues and adjacent normal tissues were counted. The relationship between MVD and LVD in cancer tissues and clinicopathological characteristics such as gender, age, tumor diameter, tumor differentiation, lymph node metastasis, vascular invasion, nerve invasion and tumor stage were analyzed. The receiver operating characteristic curve (ROC) was drawn and the area under the curve (AUC) was calculated to evaluate the value of MVD and LVD in predicting distant metastasis of pancreatic cancer within 1 year after surgery. The effects of MVD and LVD on the distant metastasis rate of pancreatic cancer within one year after operation were evaluated. Univariate and multivariate logistic regression were used to analyze the independent influencing factors for distant metastasis of pancreatic cancer within 1 year after surgery. Results:MVD and LVD in metastatic cancer tissues were higher than those in adjacent normal tissues [(72.52±9.73) vs (51.73±7.95)/400 times field of view, (23.78±6.87) vs (14.00±5.66)/400 times field of view]. MVD and LVD in the non-metastasis group were also higher than those in the adjacent normal tissues [(63.20±6.52) vs (54.79±5.80)/400 times field of view, (16.25±5.15) vs (13.62±5.03)/400 times field of view], and all the differences were statistically significant ( P<0.05). MVD in cancer tissue was significantly increased in patients with tumor diameter ≥2 cm, lymph node metastasis, vascular invasion and high TNM stage ( P<0.05), and LVD was significantly increased in patients with tumor diameter ≥2 cm, lymph node metastasis, moderate and low differentiation, vascular invasion, nerve invasion and high TNM stage ( P<0.05). The AUC values of MVD and LVD in predicting distant metastasis of pancreatic cancer within 1 year after surgery were 0.799 (95% CI 0.659-0.939) and 0.803(95% CI 0.676-0.929), and the cut-off values were 70.5 and 20.5/400 times field of view, respectively. The sensitivity was 73.9% and 69.6%, and the specificity was 87.5% and 83.7%. The cumulative distant metastasis rate within 1 year after operation in high MVD and high LVD groups was significantly higher than that in low MVD and low LVD groups ( P<0.05). Multivariate logitic regression analysis showed that tumor diameter ≥2 cm ( OR=1.757, 95% CI 1.536-3.846, P<0.05), lymph node metastasis ( OR=2.364, 95% CI 1.036-4.175, P<0.05), high MVD ( OR=4.345, 95% CI 1.245-3.736, P<0.05) and high LVD ( OR=3.637, 95% CI 1.426-4.035, P<0.05) were independent risk factors for distant metastasis of pancreatic cancer within 1 year after surgery. Conclusions:Increased MVD and LVD in pancreatic cancer tissues are independent influencing factors for distant metastasis within 1 year after surgery, which can be used to predict whether patients have distant metastasis within 1 year after surgery.

Expression and significance of serum microRNA-122 in children with nonalcoholic fatty liver disease / 中华内分泌外科杂志

Objective:To study the expression of serum microRNA-122 (miR-122) in children with non-alcoholic fatty liver disease (NAFLD) .Methods:35 NAFLD children aged 7-14 years from the department of Endocrinology and Inherited Metabolic disease, Children’s Hospital Affiliated to Zhengzhou University were collected, and 43 healthy children healthy children matched with the gender and age as the control group. The height, weight, body mass index (BMI) , waist-hip ratio (WHR) , triglyceride (TG) , cholesterol (TC) , alanine transaminase (ALT) , aspartate aminotransferase (AST) and miR-122 levels of the children in the two groups were detected and recorded.Results:There was no significant difference in age between NAFLD group (9.97±1.93 years) and control group (10.28±1.68 years) ( P=0.455) . Body weight (65.91±15.94kg) , BMI (29.93±3.77kg/m2) , WHR (0.97±0.04) , TG (1.49±0.46mmol/L) , TC (3.96±0.67mmol/L) , ALT (32.7±15.65U/L) and the level of miR-122 (2.33±1.75) in the NAFLD group was higher than that in the control group (36.93±7.54kg, 17.75±1.60kg/m 2, 0.83±0.04, 0.94±0.18mmol/L, 3.55±0.53mmol/L, 19.77±4.3U/L) , the differences were statistically significant ( P<0.05) . The levels of miR-122 in the NAFLD group were positively correlated with ALT and AST (r=0.618, 0.487, P < 0.05) . The ROC curve was used to evaluate the efficacy of miR-122 in diagnosing NAFLD, and the area under the curve of miR-122, ALT and ALT+ miR-122 in diagnosing NAFLD was 0.824, 0.727 and 0.839, respectively. MiR-122 combined with ALT had an advantage in diagnosing NAFLD. Conclusion:The levels of miR-122 in children with NAFLD were positively correlated with ALT. MiR-122 combined with ALT has clinical value in diagnosing NAFLD.

Establishment and practice of the collaborative innovation system of the national clinical research center for geriatric disorders / 中华医院管理杂志

Scientific and efficient collaborative innovation system plays a key role in driving the construction and development of national clinical medical research centers. As the entity in building the national clinical medical research center for geriatric diseases, Xiangya Hospital of Central South University has carried out the " two-in-one integration" construction of the center hospital based on the principle of " simultaneous construction of the center and the hospital" . Leveraging the research, promotion and application of key technologies for common diseases and frequently occurring diseases among the elderly, a collaborative innovation system has come into being since 2018, consisting of three organically linked platforms of technology support platform, core research platform and public service platform, as well as four support systems of collaborative innovation network support system, innovation management system support system, special innovation fund support system and innovation ability training support system. By 2021, the collaborative innovation system has been completed in general, and desirable results have been achieved in clinical research, achievements translation and technology promotion for geriatric diseases. These achievements have strongly promoted the development of China′s elderly health sector.

Evaluation of the quality of different germplasms of Rehmannia glutinosa based on iridoid glycosides / 中国药房

OBJECTIVE To evaluate the quality of different germplasms of Rehmannia glutinosa based on iridoid glycosides. METHODS The contents of total iridoid glycosides ，catalpol，rehmaionoside D ，rehmaionoside A ，and leonuride in 18 batches of R. glutinosa from 6 germplasms（85-5，JinJiu，BX，BJ-1，Shandong，QH-1）were determined by ultraviolet spectrophotometry and high performance liquid chromatography. After normalization of the above content determination results ，the quality of different germplasm of R. glutinosa were evaluated by multiple statistical methods such as cluster analysis ，factor comprehensive analysis and partial least squares discriminant analysis （PLS-DA）. RESULTS Among 6 germplasms of R. glutinosa ，the content of total iridoid glycosides in R. glutinosa 85-5 was the highest ，and the content of catalpol in R. glutinosa BX was the highest ；the contents of rehmannioside D and rehmannioside A in R. glutinosa JinJiu were the highest ，and the content of leonuride in R. glutinosa BX was the highest. Cluster analysis showed that R. glutinosa JinJiu were clustered into one category ，R. glutinosa BX clustered into one category ，R. glutinosa Shandong and R. glutinosa BJ-1 were clustered into one category ，and R. glutinosa QH-1 and 85-5 were clustered into one category. Through factor comprehensive analysis ，there were differences in the quality of different germplasms of R. glutinosa . The comprehensive score of R. glutinosa BX，Shandong，85-5，BJ-1，QH-1，JinJiu were 2.283 9，1.689 1，1.664 8， 1.503 3，1.469 0，1.214 6，respectively. PLS-DA showed that variable importance projection value of total iridoid glycosides ， catalpol and leonuride were all higher than 1. CONCLUSIONS The quality difference of R. glutinosa from different germplasms may be caused by total iridoid glycosides ，catalpol and leonuride.

Analysis of TBX19 gene variant in a child with congenital isolated adrenocorticotropic hormone deficiency / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical and genetic characteristics of a patient with congenital isolated adrenocorticotropic hormone deficiency (IAD).@*METHODS@#Clinical characteristics of the patient was reviewed. Genomic DNA of the child was subjected to whole exome sequencing.@*RESULTS@#Genetic testing has confirmed the diagnosis of congenital IAD by identification of compound heterozygous variants of the TBX19 gene, which included a pathogenic nonsense c.535C>T (p.R179X) variant inherited from his father and a novel missense c.298C>T (p.R100C) variant inherited from his mother.@*CONCLUSION@#Congenital IAD due to variants of the TBX19 gene is a rare autosomal recessive disease. It is characterized by low plasma adrenocorticotropic hormone and cortisol levels but normal levels of other pituitary hormones. Delayed diagnosis may lead to severe early-onset adrenal failure and wrong treatment which may result in neonatal mortality. Hydrocortisone replacement is effective. Detection of pathogenic variant of TBX19 gene is the key to diagnosis.

Research Progress in Targeted Therapy of Hepatocellular Carcinoma / 中国医学科学杂志(英文版)

Hepatocellular carcinoma (HCC) is one of the most common malignancies, and its treatment is limited. With the understanding of key genes and signaling pathways in the occurrence and development of HCC, targeted drugs with high selectivity and low toxicity have been developed continuously, bringing a variety of options for the treatment of advanced HCC. In this article, the research progress on representative drugs of targeted therapy and potential therapeutic targets for HCC are reviewed.

Advances in the treatment of infections caused by carbapenem-resistant Enterobacteriaceae in elderly patients / 中华老年医学杂志

The proportion of the elderly infected with carbapenem-resistant Enterobacteriaceae(CRE)has increased in recent years, with prolonged hospitalization, high mortality and various complications.In this paper, the epidemiological characteristics of CRE infections in the elderly, individualized screening of elderly patients at high-risk for CRE infections, multi-drug combination therapy for patients with CRE infections, and recent progress in eliminating CRE infections and colonization are reviewed to provide a reference for clinical practice.

Analysis of correlation factors between peripapillary duodenal diverticulum and choledochectasia by CT scan / 中国医师进修杂志

Objective:To analyze the correlation factors between peripapillary duodenal diverticulum (PDD) and choledochectasia by CT scan.Methods:The clinical data of 220 patients with duodenal diverticulum detected by multi-slice spiral CT scan and confirmed by gastrointestinal angiography or endoscopic retrograde cholangiopancreatography (ERCP) in Dahua Hospital, Xuhui District of Shanghai City were retrospectively analyzed. The correlation of the PDD, the contact of common bile duct (CBD), length of contact and exudation with choledochectasia in patients with PDD were analyzed.Results:A total of 236 duodenal diverticulum were found in 220 patients. Among them, there were 152 PDD, 41 diverticulum located superior to the duodenal papilla, 28 diverticulum located inferior to the duodenal papilla, 3 diverticulum located lateral to the duodenal papilla, and 12 diverticulumlocated in the horizontal portion. The incidence of choledochectasia in patients with PDD contacted with CBD was significantly higher than that in patients with PDD not contacted with CBD: 59.35% (73/123) vs. 37.93% (11/29), and there was statistical difference ( P<0.05); the incidence of choledochectasia in patients with contact length of PDD and CBD ≥1.5 cm was significantly higher than that in patients without contact of PDD and CBD and patients with contact length of PDD and CBD <1.5 cm: 82.43% (61/74) vs. 24.49% (12/49) and 37.93% (11/29), and there was statistical difference ( P<0.05); the incidence of choledochectasia in PDD patients with exudation was significantly higher than that in PDD patients without exudation: 10/11 vs. 52.48% (74/141), and there was statistical difference ( P<0.05). Conclusions:The patients with contact length of PDD and CBD ≥1.5 cm and patients with PDD combined with exudation could be prone to choledochectasia.

5M1E analysis method combined with interview method to investigate the factors hindering the management of nursing quality homogeneity in multiple hospital areas / 中国实用护理杂志

Objective:To explore the obstacles of the promotion of nursing quality homogenization management under the mode of multiple hospital areas, and to make the best response strategies and management ideas according to the obstacles, so as to achieve the goal of nursing quality management with the same quality and high efficiency.Methods:Based on the theory framework of 5M1E analysis, this study made an interview outline. Through focus group interview and personal interview, 44 nurses of different positions and levels were interviewed. The interview materials were sorted out and analyzed by Colaizzi seven step analysis method, and the themes were extracted to obtain the obstacles to the promotion of nursing quality homogeneity management.Results:The factors that hinder the management of nursing quality homogeneity included: the lack of understanding and thinking on the management of nursing quality homogeneity, the incomplete integration of quality control organization system in different hospital areas, the lack of comprehensiveness of nursing quality management system and standard unification, the differences in the implementation of quality control system, standard and plan, the difference in information system, the disunity of quality control index extraction, the physics of treatment room, etc. There were six aspects of environmental layout differences.Conclusion:The homogenization of nursing quality management under the mode of "one hospital, multiple districts" is of great significance. Hospitals need to formulate feasible countermeasures and development ideas according to the obstacles of homogenization management, so as to promote the development of nursing quality management and provide patients with the same quality of nursing services.

Clinical and genetic analysis of an infant with aldosterone synthase deficiency / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical characteristics and genetic variants in a two-month-and-one-day male infant with aldosterone synthase deficiency.@*METHODS@#Clinical data of the child was collected. Whole exome sequencing was carried out by next generation sequencing(NGS). Candidate variants were verified by Sanger sequencing.@*RESULTS@#The infant had measured 54 cm (-2.1 SD) in length and 3.9 kg (-2.8 SD) in weight, and featured recurrent vomiting, poor feeding, apathetic appearance and failure to thrive. Blood electrolyte testing showed low sodium and increased potassium. Serum cortisol, adrenocorticotrophic hormone, 17-alpha-hydroxyl progesterone, androstenedione, and testosterone were all within the normal ranges. The plasma renin activity activity was increased, and plasma aldosterone level was low. NGS revealed that the infant has harbored compound heterozygous variants of the CYP11B2 gene, namely c.1334T>G(p.Phe445Cys) inherited from his father and c.1121G>A(p.Arg374Gln) inherited from his mother. Neither variant was reported previously, and both were predicted to be deleterious for the function of the protein product.@*CONCLUSION@#The compound heterozygous variants of c.1334T>G (p.Phe445Cys) and c.1121G>A (p.Arg374Gln) of the CYP11B2 gene probably underlay the disease in this patient.

Internal circadian clock and liver metabolism / 生理学报

Circadian clock is an internal autonomous time-keeping system, including central clocks located in the suprachiasmatic nucleus (SCN) and peripheral clocks. The molecular circadian clock consists of a set of interlocking transcriptional-translational feedback loops that take the clock-controlled genes 24 h to oscillate. The core mechanism of molecular circadian clock is that CLOCK/BMAL1 dimer activates the transcription of cryptochromes (CRYs) and Periods (PERs), which act as transcriptional repressors of further CLOCK/BMAL1-mediated transcription. In addition to this basic clock, there is an additional sub-loop of REV-ERBα and RORα regulating the transcription of BMAL1. Approximately 80% protein-coding genes demonstrate significant rhythmicity. The earth rotation is responsible for the generation of the daily circadian rhythms. To coordinate metabolic balance and energy availability, almost all organisms adapt to the rhythm. Studies have shown that circadian clock integrating with metabolic homeostasis increases the efficiency of energy usage and coordinates with different organs in order to adapt to internal physiology and external environment soon. As the central organ of metabolism, the liver performs various physiological activities nearly all controlled by the circadian clock. There are multiple interactive regulation mechanisms between the circadian clock and the regulation of liver metabolism. The misalignment of metabolism with tissue circadian is identified as a high-risk factor of metabolic diseases. This article reviews the recent studies on circadian physiological regulation of liver glucose, lipid and protein metabolism and emphasizes oscillation of mitochondrial function. We also take an outlook for new methods and application of circadian clock research in the future.

Clinical and genetic analysis of a case of dihydrolipoamide dehydrogenase deficiency caused by novel variant of DLD gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical and genetic characteristics of a patient with dihydrolipoamide dehydrogenase deficiency.@*METHODS@#Potential variants of the DLD gene were detected by whole exome sequencing and verified by Sanger sequencing.@*RESULTS@#Compound heterozygous variants, c.704_705delTT (p.Leu235Argfs*8) and c.1058T>C (p.Ile353Thr), were detected in the DLD gene. The c.1058T>C (p.Ile353Thr) variant was derived from his mother and known to be pathogenic. The c.704_705delTT (p.Leu235Argfs*8) variant was derived from his father and was unreported previously.@*CONCLUSION@#The compound heterozygous variants of c.704_705delTT (p.Leu235Argfs*8) and c.1058T>C (p.Ile353Thr) of the DLD gene probably underlay the disease in this patient. Above finding has facilitated genetic counseling and prenatal diagnosis for the family.