The value of multimodal MRI radiomics in predicting muscle-invasive bladder cancer / 实用放射学杂志

Objective To investigate the value of multimodal MRI radiomics in predicting muscle-invasive bladder cancer.Methods A total of 178 patients with pathology diagnosis of bladder cancer were retrospectively collected,including 31 cases of muscle invasive bladder cancer(MIBC)and 147 cases of non-muscle invasive bladder cancer(NMIBC).Patients were randomly divided into training group and testing group at a ratio of 7︰3.The range of bladder tumors in T2WI,diffusion weighted imaging(DWI)and apparent diffusion coefficient(ADC)images were segmented as volume of interest(VOI)by using ITK-SNAP software.Radiomics features were extracted through A.K software.The optimal radiomics features were obtained through radiomics algorithm and least absolute shrinkage and selection operator(LASSO)method.Finally,the logistic regression analysis method and random forest model method were used to construct prediction models.The performance of prediction models was evaluated by the receiver operating characteristic(ROC)curve.Results This study constructed four groups of models containing T2WI prediction model,DWI prediction model,ADC prediction model,and T2WI+DWI+ADC prediction model.The area under the curve(AUC)of T2WI,DWI,and ADC prediction models for identifying MIBC and NMIBC were separately 0.920,0.914,and 0.954 in the training group while those were respectively 0.881,0.773,and 0.871 in the testing group.There was no statistical significance between T2WI,DWI,and ADC prediction models.In training and testing groups,the AUC of T2WI+DWI+ADC prediction model were respectively 0.959 and 0.909,which were higher than the single sequence prediction model.The sensitivity and specificity of the training group were 0.905 and 0.853 and the sensitivity and specificity of the testing group were 0.778 and 0.795.Conclusion MRI radiomics prediction model can effectively differentiate MIBC and NMIBC.The T2WI+DWI+ADC prediction model shows better prediction efficiency.

Mechanism and potential of vitamin C supplementation in sarcopenia prevention and treatment / 中国组织工程研究

BACKGROUND:Vitamin C,as an essential nutrient,has a wide range of biological effects and a variety of biological functions related to the pathogenesis of sarcopenia.Vitamin C supplementation is expected to be a novel prevention and treatment measure for sarcopenia. OBJECTIVE:To review recent research advances in the application of vitamin C in the pathogenesis and treatment of sarcopenia,and to discuss the potential role of vitamin C in the prevention and treatment of sarcopenia and possible mechanistic pathways based on published evidence. METHODS:The first author performed a computer search of PubMed,Web of Science,CNKI and other databases for relevant studies involving vitamin C in sarcopenia.The search keywords were"vitamin C,ascorbic acid,L-ascorbic acid,ascorbate,antioxidants,oxidative stress,sarcopenia,muscular atrophy,muscle weakness,muscle development,skeletal muscle regenerate,muscles,skeletal muscle"in English and Chinese,respectively.The search period was from each database inception to July 2023.After screening,85 articles were included for further review. RESULTS AND CONCLUSION:Ensuring adequate dietary vitamin C intake or maintaining normal circulating levels of vitamin C will help to reduce age-related muscle loss and decrease the prevalence of sarcopenia.In addition,vitamin C supplementation is also useful for improving skeletal muscle mass,strength and physical function with potential synergistic effects in exercise strategies for sarcopenia.The effects of vitamin C on sarcopenia may be via the following biological mechanisms:vitamin C limits the activation of the ubiquitin-proteasome pathway mainly by inhibiting oxidative stress and inflammatory responses in skeletal muscle,thus positively regulating protein metabolic homeostasis,and may enhance mitochondrial antioxidant defenses through its antioxidant effects to maintain healthy mitochondrial function.In addition,vitamin C affects myoblast proliferation,differentiation and myotube size,mainly by increasing the expression of myogenic regulatory factors and activating protein synthesis signaling pathways,which contribute to the promotion of muscle development as well as the repair and regeneration of damaged muscle tissue.The positive effects of vitamin C in sarcopenia need to be studied in large samples and with optimized designs for important influencing factors,such as the choice of supplementation dose and duration,the design of exercise prescription when vitamin C is combined with an exercise intervention,and the assessment of the redox status of the individual.It is recommended that future studies should be conducted in older patients with sarcopenia(<50 μmol/L)with suboptimal vitamin C status to investigate the efficacy of a combined intervention of long-term supplementation with 1 000 mg/d vitamin C(for 6 months or longer)with at least two or more types of multi-type combined exercise,with supplementation timed to take place at 1 hour after the end of the exercise,and with monitoring of markers of oxidative damage produced during the exercise such as malondialdehyde or protein hydroxyl levels were monitored.In conclusion,the optimal dose and timing of vitamin C supplementation for older adults with sarcopenia needs to be explored more,while the appropriate design of exercise prescriptions(especially the type and intensity of exercise)needs to be further determined.

The application of transcervical non-inflatable endoscopic posterior inferior sternocleidomastoid approach in thyroid surgery / 临床耳鼻咽喉头颈外科杂志

Objective:To investigate the clinical efficacy and safety of transcervical non-inflatable endoscopic thyroidectomy through the posterior inferior sternocleidomastoid approach. Methods:From December 2022 to May 2023, the clinical data of 35 patients with papillary thyroid carcinoma treated by transcervical non-inflatable endoscopic surgery via posterior inferior sternocleidomastoid approach were retrospectively analyzed. There were 14 males and 21 females, with an average age of 44.7 years. The operation time, bleeding volume, postoperative recovery, complications and follow-up were recorded. Results:All 35 patients successfully completed the surgery, with an average operation time of 4 hours and 7 minutes, an average bleeding volume of 14 ml, and an average postoperative hospital stay of 3.5 days. There were no serious complications and no obvious neck discomfort during postoperative follow-up. Conclusion:Transcervical non-inflatable endoscopic thyroidectomy via posterior inferior sternocleidomastoid approach is safe and effective, with fast postoperative recovery,high appearance satisfaction and good neck comfort.

Feasibility study of active surveillance for low-risk papillary thyroid microcarcinoma / 中华健康管理学杂志

Objective:To investigate the feasibility of active surveillance for low-risk papillary thyroid microcarcinoma.Methods:This is a cross-sectional study. From 2013 to 2017, 61 patients with pathologically confirmed papillary thyroid microcarcinoma were followed-up dynamically. The growth of nodules, newly-developed nodules and lymph node metastasis were recorded and were set as the criteria for disease progression. And the disease progression was the outcome event of survival analysis. The patients were divided into two groups based on the median age at diagnosis. Univariate analysis of factors influencing disease progression in different age groups was performed using Cox proportional hazards regression. The differences in disease progression between different age groups were compared using the Kaplan-Meier method and the log-rank test.Results:Of the 61 patients, there were 9 males and 52 females. The median age of disease onset was 43 years (ranged 23-74 years). The median follow-up time was 2 years (ranged 2-7 years), and 22 (36.1%) patients with tumor diameter increased by ≥3 mm, including 5 males and 17 females. A total of 22 cases (36.1%) showed an increase in tumor diameter of ≥3 mm, including 5 males and 17 females. Thirteen cases (21.3%) developed new malignancies, including 2 males and 11 females. Three cases (5%) had lymph node metastasis, all of which were females. In total, 24 cases (39.3%) showed disease progression, including 5 males and 19 females. Disease progression was more frequent in the <43 years age group compared to the ≥43 years age group.Conclusions:For patients with low-risk papillary thyroid microcarcinoma, strict adherence to the indications for active surveillance and consideration of patient preferences make active surveillance a feasible tumor management approach.

Association of cytomegalovirus infection with T cell senescence and cardiovascular diseases in maintenance hemodialysis patients / 中华肾脏病杂志

Objective:To evaluate the influence of cytomegalovirus (CMV) infection on T cell senescence and cardiovascular disease (CVD) in maintenance hemodialysis (MHD) patients.Methods:It was a single center cross sectional study. Patients aged over 18 years old and received hemodialysis for at least 6 months at the Blood Purification Centre of the Department of Nephrology of Zhongshan Hospital Affiliated to Fudan University from January 2021 to April 2021 were enrolled. Demographic, hematological, nutritional and inflammatory markers were obtained. Anti-CMV-IgM and IgG antibodies were detected using the Roche Elecsys assay. CD28 - T cell was evaluated by flow cytometry. Mann-Whitney U test or Kruskal-Wallis H test was used for anti-CMV-IgG comparison among groups. Spearman correlation and linear regression were used to assess the relationship between anti-CMV-IgG and CD28 - T cell compartment. Logistic regression was used to assess the relationship between anti-CMV-IgG and CVD. Results:A total of 438 MHD patients (270 men and 168 women) were enrolled in the study. The median age was 62 (51, 70) years. The median time on hemodialysis was 57 (21, 100) months. The primary diseases included chronic glomerulonephritis [213 cases (48.6%)], diabetic nephropathy [82 cases (18.7%)], polycystic kidney disease [34 cases (7.8%)], hypertensive renal disease [34 cases (7.8%)], etc. Of these patients, 430 (98.2%) were seropositive for anti-CMV-IgG, 206 (47.0%) had anti-CMV-IgG titers exceeding the upper limit of 500 U/ml. Patients aged over 70 years old were 100% seropositive for anti-CMV-IgG. Patients on HD for more than 5 years had a higher seropositive rate of 99.1% than those with shorter HD duration, although these results were not statistically significant. Spearman correlation analysis showed that the anti-CMV-IgG titers in MHD patients were positively correlated with the proportion of CD4 + CD28 - T cells and CD8 + CD28 - T cells ( r=0.316, P<0.001; r=0.272, P<0.001). Multiple linear regression analysis showed that after adjusting for age and gender, lg[CD4 + CD28 - T cells(%)] and lg[CD8 + CD28 - T cells(%)] were positively correlated with lg[anti-CMV-IgG titers (U/ml)], respectively ( β=0.455, t=8.315, P<0.001; β=0.412, t=7.282, P<0.001). In analyzing the relationship between anti-CMV-IgG titers and CVD, patients were divided into six groups according to age and anti-CMV-IgG level. Group 1 included young patients with a lower anti-CMV-IgG titers (age ≤55 years old, anti-CMV-IgG <400 U/ml); Group 2 included young patients with a higher anti-CMV-IgG titers (age≤55 years old, anti-CMV-IgG ≥400 U/ml); Group 3 included middle-aged patients with a lower anti-CMV-IgG titers (55<age≤65 years old, anti-CMV-IgG<400 U/ml); Group 4 included middle-aged patients with a higher anti-CMV-IgG titers (55<age≤65 years old, anti-CMV-IgG≥400 U/ml); Group 5 included old aged patients with a lower anti-CMV-IgG titers (age >65 years old, anti-CMV-IgG<400 U/ml); Group 6 included old aged patients with a higher anti-CMV-IgG titers (age>65 years old, anti-CMV-IgG≥400 U/ml). The incidence of CVD was significantly different among the six groups ( χ2=18.780, P=0.002) and patients aged over 55 years old with higher anti-CMV-IgG level had a higher CVD incidence compared with group 1 ( P<0.05). Multivariate logistic regression analysis showed that increased age ( OR=1.020, 95% CI 1.002-1.038, P=0.033), male ( OR=1.855, 95% CI 1.161-2.965, P=0.010), history of diabetes ( OR=1.867, 95% CI 1.145-3.046, P=0.012), increased lg[NT-proBNP(μg/L)] ( OR=2.848, 95% CI 1.816-4.467, P<0.001) and lg[anti-CMV-IgG (U/ml)] ( OR=3.183, 95% CI 1.582- 6.405, P=0.001) were independent factors associated with CVD in MHD patients. Conclusions:CMV infection is extremely common in MHD patients. Increased anti-CMV-IgG is related to T cell senescence and CVD complications in MHD patients.

Clinical features of hypopituitarism with nonalcoholic fatty liver disease after sellar tumor surgery in children / 临床肝胆病杂志

Objective To investigate the clinical features of hypopituitarism with nonalcoholic fatty liver disease (NAFLD) in children after sellar tumor surgery and the association between hypopitarism and NAFLD in children. Methods A retrospective analysis was performed for the clinical data of children with hypopituitarism and NAFLD after sellar tumor surgery who were followed up regularly in Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, from January 2017 to December 2021, and their clinical features were analyzed. Results There were 32 children with regular follow-up and complete clinical data after sellar tumor surgery, and 10 children (31.25%) developed NAFLD, among whom there were 5 boys and 5 girls. Among these 10 children, 9 had craniopharyngioma and underwent surgical treatment, and 1 had germinoma and underwent local radiotherapy. The 10 children had a median age of 8.4(6.29.8) years at the diagnosis of hypopituitarism and a median age of 11.9(8.7-12.6) years at the diagnosis of NAFLD. The median number of years from the diagnosis of hypopituitarism to the diagnosis of NAFLD was 2.0(1.4-4.0) years. At the diagnosis of NAFLD, all 10 children had obesity, and body mass index (BMI) was increased by 7.26±4.25 kg/m 2 on average since the diagnosis of hypopituitarism; the 10 children had a mean fasting blood glucose level of 4.67±0.55 mmol/L, a mean fasting insulin level of 25.40±5.93 μIU/ml, and a mean HOMA-IR index of 5.26±1.29. Among these 10 children, 9 had hypertriglyceridemia, and 1 had elevated triglyceride, with a mean level of 3.08±1.09 mmol/L; 6 children had hypercholesterolemia, with a mean level of 5.67±1.25 mmol/L; 8 children had high-density lipoprotein cholesterolemia, with a mean level of 3.97±1.27 mmol/L. After the diagnosis of NAFLD, 2 children were treated with recombinant human growth hormone and metformin and achieved reductions in BMI, HOMA-IR, and triglyceride after treatment, and total cholesterol and low-density lipoprotein cholesterol were reduced to the normal range. Conclusion Children may experience weight gain, hypopituitarism, insulin resistance, and dyslipidemia after sellar tumor surgery, which may lead to the onset of NAFLD. Weight management and active pituitary hormone replacement therapy are recommended for such children, as well as routine screening and management of fatty liver disease.

Clinical and genetic analysis of a child with Schaaf-Yang syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic etiology of a child with Schaaf-Yang syndrome (SYS).@*METHODS@#Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing. Sanger sequencing was used for family constellation verification, and bioinformatic analysis was performed for the candidate variant.@*RESULTS@#The child, a 1-year-and-9-month-old boy, had clinical manifestations of retarded growth, small penis, and unusual facies. Genetic testing revealed that the child has harbored a novel heterozygous variant of c.3078dupG (p.Leu1027Valfs*28) of the MAGEL2 gene. Sanger sequencing showed that neither parent of the child carried the same variant. The c.3078dupG(p.Leu1027Valfs*28) variant of the MAGEL2 gene has not been included in the databases of ESP, 1000 Genomes and ExAC. According to the Standards and Guidelines for the Interpretation of Sequence Variants of the American College of Medical Genetics and Genomics (ACMG), the variant was judged to be pathogenic.@*CONCLUSION@#The c.3078dupG (p.Leu1027Valfs*28) variant of the MAGEL2 gene probably underlay the SYS in this child, which has further expanded the spectrum of the MAGEL2 gene variants.

Clinical features and prognosis of eight cases of Mycoplasma pneumoniae-induced rash and mucositis / 中华皮肤科杂志

Objective:To analyze clinical features and prognosis of Mycoplasma pneumoniae-induced rash and mucositis (MIRM) . Methods:Among patients who were diagnosed with erythema multiforme/severe erythema multiforme or Stevens-Johnson syndrome at discharge from the First Affiliated Hospital, Sun Yat-sen University from November 2004 to May 2021, patients with MIRM were screened out according to diagnostic criteria for MIRM and after exclusion of other causes, and their clinical manifestations, laboratory and auxiliary examinations, treatment and prognosis were analyzed.Results:Eight patients were found to meet the MIRM diagnostic criteria, including 4 males and 4 females, with the age at onset being 15.63 ± 9.16 years (range, 4 - 30 years) . All the 8 patients had fever, and 5 of them had upper respiratory symptoms such as cough and sore throat. Oral mucosal damage occurred in all the patients, 5 of whom presented with blood crusts on the lips; eye damage occurred in 7 patients, which manifested as conjunctiva hyperemia and increased secretions. All the patients presented with skin lesions, including 5 with targetoid lesions and 4 with blisters. All the patients were serologically positive for anti- Mycoplasma pneumoniae IgM. One patient experienced recurrent upper respiratory tract infections such as dry cough, each episode was closely related to Mycoplasma pneumoniae infection, and whole exome sequencing of the peripheral blood showed heterozygous mutations in the NLRC4 and IRGM genes. Histopathological examination of skin lesions was performed in 3 patients, and the results were consistent with the diagnosis of erythema multiforme. Seven patients were treated with systemic glucocorticoids, 6 with intravenous immunoglobulin, 5 with azithromycin, and 5 with acyclovir, valacyclovir or ribavirin. After an average 2.9-year follow-up, 3 patients were cured, 1 was blind, 1 experienced recurrent dry cough, oral ulcers and rashes on the limbs, and the remaining 3 developed eye damage such as meibomian gland dysfunction, punctal stenosis and corneal epithelial damage. Conclusions:MIRM mostly occurred in children and young adults, and was mainly accompanied by prodromal symptoms such as fever, sore throat and cough. MIRM mainly manifested as obvious mucosal damage and some targetoid lesions. Most patients could recover after a single attack, and recurrent episodes may be related to mutations in autoinflammation- and infection-related genes in some patients.

Construction and empirical study of clue enrichment model of excessive medical behavior based on the rank assignment method / 中华医院管理杂志

Objective:To construct and verify a model of excessive medical behavior clues enrichment, for the technical support for the safe and rational use of medical insurance fund.Methods:A model of excessive medical behavior clues enrichment was constructed by the rank assignment method. The inpatient transaction records of medical insurance for employees and residents in 5 tumor hospitals in Beijing from 2016 to 2019 were obtained to verify the validity of the model. The patients were grouped according to age and gender, and each transaction record was converted into a standardized score V(0-100 scores), all transactions were divided into 22 groups according to V value. The Cochran-Armitage trend test was used to analyze the variation trend of enrichment rate with the increase of V value. Chi-square test was used to compare the chargeback rates of different groups. The correlation between the standardized score V and the amount of chargeback was tested by Pearson.Results:There were 872 599 and 86 356 hospitalization transactions for employee and resident medical insurance patients, with included 1 164 and 103 chargeback records respectively. The average score and median of V-value of employee and resident medical insurance transactions were scores of 49 and 50 respectively.When V>0, the enrichment rates of the employee and resident medical insurance were on the rise with the increasing of V( Z=23.86, P<0.001; Z=11.02, P<0.001), the refusal rates among different groups was significant different( χ2=1 307.16, P<0.001)and the correlation between V value and the chargeback amount was statistically significant( r=0.29, P<0.001; r=0.30, P=0.003). Conclusions:This study established a clue enrichment model of excessive medical behavior based on the rank assignment method. By analyzing a large number of medical insurance transaction records, the model can focus on the medical insurance transaction with suspected excessive medical treatment behavior, and has a certain guiding role in the management of medical insurance fund.

Physical activity and primary prevention of stroke / 国际脑血管病杂志

With the change of lifestyle, lack of physical activity has become a serious public health problem. As an active intervention, physical activity can reduce the risk of stroke and play an important role in the primary prevention of stroke. This article reviews the research progress of physical activity and primary prevention of stroke in recent years, including the research progress of the relationship between physical activity and risk factors for stroke.

Differences between exhausted CD8+ T cells in hepatocellular carcinoma patients with and without uremia.

The purpose of this study was to explore the differences between exhausted CD8+ T cells in hepatocellular carcinoma (HCC) patients with and without uremia. We enrolled 45 uremic patients who were recently diagnosed with HCC into the HCC + uremia cohort and similar patients with HCC but without uremia into the HCC-only cohort. Lymphocytes were obtained from the two cohorts, and exhausted CD8+ T cells, comprising PD-1+CD8+, TIM-3+CD8+, and LAG-3+CD8+ T cells, were sorted and expanded in vitro. After expansion, the proportions of PD-1+CD8+, TIM-3+CD8+, and LAG-3+CD8+ T cells were significantly higher in the HCC-only cohort than in the HCC + uremia cohort. CD8+ T cells expressing PD-1, TIM-3, or LAG-3 showed increased tumor reactivity and release of interferon-γ in vitro; however, these cells demonstrated weaker anti-tumor activity in HCC + uremia patients than in HCC-only patients. Among the expanded lymphocytes, only the decreased proportion of PD-1+CD8+ T cells significantly correlated with the HCC + uremia cohort (odds ratio of 2.731, p = 0.009). We concluded that peripheral CD8+ T cells expressing PD-1, TIM-3, or LAG-3 from the HCC + uremia cohort were dysfunctional in vitro. Among these populations, PD-1+CD8+ T cells were most evident in HCC patients with uremia.

Survival Analysis of 76 Cases of Head and Neck Adenoid Cystic Carcinoma with Lung Metastasis / 中国肺癌杂志

BACKGROUND@#Adenoid cystic carcinoma (ACC) of the head and neck often develops lung metastasis. At present, there are not many research reports on ACC lung metastasis, little is known about its exact clinical features and treatment results, and there is no consensus on the best treatment strategy. This study explored the effective treatment strategies, clinical outcomes and long-term prognosis of head and neck ACC lung metastases.@*METHODS@#The clinical and follow-up data of 76 patients with head and neck ACC lung metastases were retrospectively analyzed. According to the initial treatment of patients, they are divided into 4 groups: surgery, surgery+chemotherapy or radiotherapy, chemotherapy or radiotherapy and supportive treatment. The patients were staged according to the International Registry of Lung Metastases Staging System (IRLM). Kaplan-Meier method and Log-rank test were used to compare the statistical differences of overall survival (OS) and progression-free survival (PFS) of patients with different treatment methods and different IRLM stages.@*RESULTS@#The OS and PFS of patients undergoing surgery are better than those of supportive therapy or radiotherapy and/or chemotherapy (OS: P<0.000,1; PFS: P<0.000,1). The OS and PFS of patients with low stage IRLM are better than those with high stage (OS: P<0.000,1; PFS: P<0.000,1). Patients with single lung metastasis and without pleural effusion have better OS and PFS.@*CONCLUSIONS@#The long-term prognosis of patients with lung metastasis of head and neck ACC who undergo surgery is better than other treatments, which is related to higher OS and PFS. For patients with ACC lung metastases who are operationally eligible, the significance of complete surgical resection should be higher than other treatment options.

Appraisal of Guidelines for the Management of Blood Pressure in Patients with Diabetes Mellitus: The Consensuses, Controversies and Gaps

Background@#Currently available guidelines contain conflicting recommendations on the management of blood pressure (BP) in patients with diabetes mellitus (DM). Therefore, it is necessary to appraise the guidelines and summarize the agreements and differences among recommendations. @*Methods@#Four databases and the websites of guideline organizations were searched for guidelines regarding BP targets and thresholds for pharmacologic therapy in DM patients, and the included guidelines were appraised with the Appraisal of Guidelines for Research and Evaluation (AGREE) II instrument. @*Results@#In 6,498 records identified, 20 guidelines met our inclusion criteria with 64.0% AGREE II scores (interquartile range, 48.5% to 72.0%). The scores of the European and American guidelines were superior to those of the Asian guidelines (both adjusted P140 mm Hg (10 guidelines, 50%) and diastolic BP thresholds >90 mm Hg (nine guidelines, 45%). The tiny minority of the guidelines provided the relevant recommendations regarding the lower limit of official BP targets and the ambulatory BP monitoring (ABPM)/home BP monitoring (HBPM) targets and thresholds in DM patients. @*Conclusion@#The lower official BP targets (<130/80 mm Hg) in patients with DM are advocated by most of the guidelines, but they contain conflicting recommendations on the official BP thresholds. Moreover, the gaps regarding the lower limit of official BP targets and the ABPM/HBPM targets and thresholds need to be considered by future study.

Predictors of post-stroke cognitive impairment / 国际脑血管病杂志

Post-stroke cognitive impairment (PSCI) refers to the decline of cognitive function after stroke, including mild cognitive impairment and dementia. It is very important to prevent PSCI, and it is a direction worth exploring to find the predictors. This article reviews the research progress of the predictors of PSCI, including demographic characteristics, imaging characteristics of stroke onset, stroke itself characteristics, and molecular markers, hoping to help screen high-risk patients and intervene in time to delay the occurrence and development of PSCI.

Progress in genetics of Prader-Willi syndrome / 中华实用儿科临床杂志

Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by the lack of expression of genes associated with the 15q11.2-q13 region of the paternal chromosome.There are three main types of genetic mechanisms, deletion of the paternal critical region, maternal uniparental disomy and imprinting center defect.Genetic counseling can be carried out based on different genetic mechanisms of PWS, both re-fertility assessments and prenatal diagnoses were performed on couples whose children have already had the disease.The pathogeny and mechanism of PWS are complex.The rapid development of molecular genetics and related research have provided a basis for further understanding of this disease.In this paper, the advances in the genetics of PWS were reviewed.

Efficacy of microscopic myringoplasty versus endoscopic myringoplasty in the treatment of tympanic membrane perforation / 中国基层医药

Objective:To investigate the clinical efficacy of microscopic myringoplasty versus endoscopic myringoplasty in the treatment of tympanic membrane perforation caused by chronic suppurative otitis media. Methods:The clinical data of 91 patients with tympanic membrane perforation caused by chronic suppurative otitis media who received treatment in Jiaxing Second Hospital, China between February 2017 and March 2019 were retrospectively analyzed. These patients were divided into a control group ( n = 45) and an observation group ( n = 46) according to different surgery methods. The control group was given microscopic tympanoplasty, while the observation group was given endoscopic tympanoplasty under the otoendoscope. Results:Blood loss in the observation group was significantly lower than that in the control group [(7.2 ± 2.0) mL vs. (13.7 ± 3.1) mL, t = 11.912, P < 0.001]. Operation time in the observation group was significantly shorter than that in the control group [(59.4 ± 5.4) min vs. (91.5 ± 11.2) min, t = 17.474, P < 0.001]. Postoperative pain score in the observation group was significantly lower than that in the control group [(2.9 ± 0.7) points vs. (4.8 ± 1.3) points, t = 8.707, P < 0.001]. Hospital stay in the observation group was significantly shorter than that in the control group [(4.3 ± 1.0) d vs. (6.5 ± 1.5) d, t = 8.249, P < 0.001]. Pure tone hearing thresholds at 1, 2 and 4 kHz frequencies in the observation group were significantly higher than those in the control group (all P < 0.05). Patient satisfaction regarding the aesthetic effect of the surgical incision in the observation group was significantly higher than that in the control group [97.8% (45/46) vs. 77.8% (35/45), χ2 = 8.604, P = 0.003]. Conclusion:Endoscopic myringoplasty has the advantages including shorter operation time, less blood loss, lower degree of pain, better hearing improvement and higher patient satisfaction over microscopic myringoplasty in the treatment of tympanic membrane perforation caused by chronic suppurative otitis media.

MRI features and signal pattern of primary sinonasal malignant melanomas / 中华放射学杂志

Objective:To investigate the MRI features of the primary sinonasal malignant melanoma (SMM) and evaluate the signal pattern based on T 1WI and T 2WI, in order to improve the diagnostic accuracy of SMM. Methods:The MRI findings of 63 SMM cases confirmed by pathology from April 2007 to November 2018 at Beijing Tongren Hospital, Capital Medical University were analyzed retrospectively. The signal intensity of malignant melanoma was classified into four types(Ⅰ—Ⅳ) according to the proportion of signal areas of the largest slice of the tumor on T 1WI and T 2WI. The classification criteria according to T 1WI: type Ⅰ, the area of hyperintensity was ≥50%; type Ⅱ, the area of hyperintensity was <50%; type Ⅲ, the tumor did not show hyperintensity, and the area of isointensity was ≥50%; type Ⅳ, the tumor did not have high signal area, and the area of low signal was ≥50%. The classification criteria according to T 2WI: type Ⅰ, the area of low signal in the tumor was ≥50%; type Ⅱ, the area of low signal was <50%; type Ⅲ, the tumor did not contain low signal area, and the area of isointensity was ≥50%; type Ⅳ, the tumor did not have low signal area, and the area of high signal intensity was ≥50%. The proportion of each type was calculated. Results:According to T 1WI, typeⅠwas identified in 27 cases (42.9%, 27/63), typeⅡ in 25 cases (39.7%, 25/63), type Ⅲ in 4 cases (6.3%, 4/63), and type Ⅳ in 7 cases (11.1%, 7/63). According to T 2WI, type Ⅰwas demonstrated in 29 cases (46.0%, 29/63), type Ⅱ in 28 cases (44.4%, 28/63), type Ⅲ in 2 cases (3.3%, 2/63), and type Ⅳ in 4 cases (6.3%, 4/63). There were 16 cases classified as type I based on T 1WI and T 2WI. Conclusions:Typical and atypical SMM can be identified according to signal patterns. The typeⅠsignal pattern of SMM cases on T 1WI and T 2WI is typical and can be easily diagnosed, but the proportion was less than 50%. For atypical SMM, malignant melanoma should be strongly suspected if hyperintense on T 1WI or hypointense on T 2WI is found.

Analysis of the health status, health-related behaviors and health needs of the elderly in China / 中华医院管理杂志

Objective:To investigate the health status, health-related behaviors and health needs of elderlies in eastern, central and western China and to understand their health experience, for exploring an efficient medical service model, and optimizing allocation of medical resources.Methods:This study used the 2008-2018 database from Chinese longitudinal healthy longevity survey organized by Peking University. It described the concentration trend of medical distance by median, compared the health status, health-related behaviors and health needs of the elderly in eastern, central and western China by χ2 tests, and analyzed time-distribution trends of the poor health status, negative health behaviors and health needs by linear relation test. Results:Among 49 611 subjects included in the study, 7 881 of them self-evaluated their health status as poor, 19 445 evaluated their recent health status as deteriorated, while 14 954 lack routine physical examination, 35 141 lack physical exercise, 8 178 smoked, 7 859 drunk, 35 814 had no access to health education services in their communities, 35 676 expressed their health education needs, and 2 637 lack adequate medical services. The difference of distribution of health status, health-related behaviors and health needs of the elderly in eastern, central and western China was statistically significant ( P<0.05). The health status, negative health behaviors and health needs of the elderly in 2008-2018 presented a linear time distribution trend( P<0.05), while the overall medical distance in eastern, central and western China was 1.02 km, 1.00 km and 1.56 km respectively, and the medical distance in the rural area further than that in the urban areas. Conclusions:The health status of the elderly in China needed to be further improved, the proportion of negative health behaviors was high, and the health needs of the elderly in central and western China were large. Promoting an active medical service mode in central and western China, strengthening the interactions between medical institutions and residential communities will contribute to health needs fulfillment and medical resource utilization.

Characteristics of total cerebral small vessel disease burden in octogenarians with cerebral small vessel disease and its relation with serum uric acid levels / 国际脑血管病杂志

Objective:To analyze the characteristics of total cerebral small vessel disease (CSVD) burden in octogenarians with CSVD and to investigate its correlation with serum uric acid.Methods:From January 2019 to December 2020, patients with CSVD diagnosed by 3.0 T magnetic resonance imaging (MRI) in Departments of Neurology and Departments of Geriatrics, Liaoning Jinqiu Hospital were enrolled retrospectively. The patients were scored and grouped according to the total CSVD burden assessment standard. Ordered logistic regression analysis was used to investigate the independent influencing factors of the total CSVD burden score, and the Spearman rank correlation method was used to conduct the correlation analysis between serum uric acid and the total CSVD burden score. Results:A total of 217 octogenarians with CSVD were enrolled in the study. Their age was 87.3±4.5 years, 150 were males (69.1%), and their median serum uric acid was 313.0 μmol/L. The total CSVD burden score: 50 patients (23.1%) in 1-point group, 79 (36.4%) in 2-point group, 68 (31.3%) in 3-point group, and 20 (9.2%) in 4-point group. The imaging subtypes of CSVD were mainly asymptomatic lacunar infarcts (ALIs; 98.2%) and white matter hyperintensities (WMHs; 77.0%). The CSVD subtype combination was different between different total CSVD burden score groups. There were only two subtypes in the 1-point group, mainly ALIs (92.0%), and WMHs accounted for only 8.0%. Four subtypes could be observed in other groups, among which ALIS+ WMHs mixed subtype (100% in the 3-point group and the 4-point group) accounts for the highest proportion. The detection rates of cerebral microbleeds (CMBs) and enlarged perivascular spaces (EPVS) increased significantly with the increase of the total CSVD burden score. The 3-point group was 44.1% and 55.9% respectively. Univariate analysis showed that there were significant differences in age, male, hypertension, coronary heart disease, serum uric acid level, high-density lipoprotein cholesterol and the highest quartile of serum uric acid between total CSVD burden score groups ( P<0.05). Multinomial ordinal logistic regression analysis showed that there was significant independent correlation between age (odds ratio 1.074, 95% confidence interval 1.013-1.140; P=0.017), serum uric acid (odds ratio 1.005, 95% confidence interval 1.000-1.009; P=0.032) and the total CSVD burden score. Spearman rank correlation analysis showed that there was a positive correlation between serum uric acid and the total CSVD burden score ( r=0.153, P=0.024). Conclusions:ALIs and WMHs are most common in octogenarians with CSVD. Four subtypes were observed in each group ≥2, and the proportion of EPVS and CMBs also increases with the increase of the total CSVD burden score. There is an independent correlation between serum uric acid and the total CSVD burden in the octogenarians.

Appraisal of Guidelines for the Management of Blood Pressure in Patients with Diabetes Mellitus: The Consensuses, Controversies and Gaps

Background@#Currently available guidelines contain conflicting recommendations on the management of blood pressure (BP) in patients with diabetes mellitus (DM). Therefore, it is necessary to appraise the guidelines and summarize the agreements and differences among recommendations. @*Methods@#Four databases and the websites of guideline organizations were searched for guidelines regarding BP targets and thresholds for pharmacologic therapy in DM patients, and the included guidelines were appraised with the Appraisal of Guidelines for Research and Evaluation (AGREE) II instrument. @*Results@#In 6,498 records identified, 20 guidelines met our inclusion criteria with 64.0% AGREE II scores (interquartile range, 48.5% to 72.0%). The scores of the European and American guidelines were superior to those of the Asian guidelines (both adjusted P140 mm Hg (10 guidelines, 50%) and diastolic BP thresholds >90 mm Hg (nine guidelines, 45%). The tiny minority of the guidelines provided the relevant recommendations regarding the lower limit of official BP targets and the ambulatory BP monitoring (ABPM)/home BP monitoring (HBPM) targets and thresholds in DM patients. @*Conclusion@#The lower official BP targets (<130/80 mm Hg) in patients with DM are advocated by most of the guidelines, but they contain conflicting recommendations on the official BP thresholds. Moreover, the gaps regarding the lower limit of official BP targets and the ABPM/HBPM targets and thresholds need to be considered by future study.