Detection of ATP2C1 gene mutations in a family with generalized familial benign chronic pemphigus / 中华皮肤科杂志

A 60-year-old female proband presented with recurrent erythema, blisters and erosions all over the body for 30 years, which had been aggravated 10 days prior to the presentation. Skin examination showed erythematous swelling of the bilateral eyelids with scattered dark red crusts, scattered erythema and erosions on the nasolabial folds and chin, large areas of erythema and erosions on the neck, bilateral axillae, left cubital fossa, perineum and perianal area, accompanied by bright red granulation tissues and positive Nikolsky′s sign. The proband had two sons, both of whom occasionally presented with erythema and erosions on the axillae and groin, and had not been diagnosed or treated. Blood samples were collected from the proband and her two sons, and genomic DNA was extracted and subjected to whole-exome sequencing. A heterozygous deletion mutation c.955_957del (p.A319del) was identified in the ATP2C1 gene in the proband and her two sons, which had not been previously reported. The patient was finally diagnosed with generalized familial benign chronic pemphigus.

Construction and clinical effects of endocrinology nursing subspecialty group / 中国实用护理杂志

Objective:To construct endocrinology nursing subspecialty model and explore its clinical effect.Methods:In December 2018, the organization structure of endocrinology nursing subspecialty was constructed in the Drum Tower Hospital Affiliated of Nanjing University Medical School and applied in clinic. In this model, the data of 2018 were taken as the data before application and the data of 2020 were taken as the data after application. The comprehensive ability of nurses, nurse satisfaction, related nursing workload and scientific research ability of nurses were compared before and after the application of the model.Results:After the application of subspecialty nursing mode, nurses′ comprehensive ability score was (92.00 ± 2.36) points. Compared with (84.25 ± 3.24) points before implementation, the difference was statistically significant ( t=-9.46, P<0.01); nurses′ satisfaction evaluations including specialty development (7.92 ± 1.41), self-quality improvement (8.00 ± 1.69), work pressure (6.42 ± 2.67), salary and welfare (3.96 ± 0.85), compared with (5.79 ± 2.31), (6.17 ± 2.82), (8.33 ± 1.50), (2.88 ± 1.59) before implementation, the difference was statistically significant ( t values were -3.86--2.73, all P<0.05). The annual workload of related nursing increased and the scientific research ability of nurses was improved. Conclusions:The application of endocrinology nursing subspecialty mode is beneficial to improve nurses′ comprehensive ability of clinical work, improve the level of specialized nursing, improve the quality of nursing service and promote the improvement of economic benefits, which is worthy of clinical promotion.

Post-stroke fatigue / 国际脑血管病杂志

Post-stroke fatigue is one of the common symptoms of stroke patients. Continuous fatigue will affect the rehabilitation of patients' limb functions, lead to the decline of daily living ability, and at the same time, make patients lack energy, lose the initiative of rehabilitation exercise, and seriously affect the quality of life and social function. This article reviews the epidemiology, clinical characteristics, evaluation scales, influencing factors, pathophysiological mechanism and treatment of post-stroke fatigue.

Cognitive impairment in patients with asymptomatic cerebral infarction and atrial fibrillation / 国际脑血管病杂志

Atrial fibrillation is one of the most common arrhythmia types. With the increase of age, atrial fibrillation will increase the incidence of silent cerebral infarction (SCI), and the correlation between them will lead to the aggravation of cognitive impairment. Atrial fibrillation can be regarded as an independent risk factor for accelerating cognitive impairment in patients with SCI, but the possible mechanism is not completely clear. Therefore, patients with atrial fibrillation should undergo MRI examination, find SCI in time and develop corresponding intervention measures in order to reduce or delay a series of subsequent negative effects. This article reviews the related cognitive impairment of SCI patients with atrial fibrillation.

Apolipoprotein E genotypes and vascular cognitive impairment / 国际脑血管病杂志

Vascular cognitive impairment is the only cognitive impairment disease that can be intervened at present. In recent years, the research on its genetic factors has attracted much attention. Among them, apolipoprotein E (ApoE) and its genotypes are closely associated with lipid metabolism, β-amyloid aggregation and deposition, the changes of brain structure and function, and are closely correlated with the pathogenesis of dementia. This article discusses some possible mechanisms of ApoE and its genotypes affecting cognitive function, in order to provide reference for the management of cognitive function in patients with vascular cognitive impairment.

Association of estimated glomerular filtration rate with SYNTAX score in old patients with coronary heart disease / 中国医师进修杂志

Objective To explore the association between estimated glomerular filtration rate (eGFR) based on creatinine and cystatin C and the SYNTAX score in old patients with coronary heart disease. Methods Two hundred and fifty-six consecutive old patients with coronary heart disease were included in this study. The patients were angiographically diagnosed with coronary heart disease between January 2013 and April 2014 at the Department of Cardiology.eGFR was caculated by using BIS2 equation based on creatinine and cystatin C.SYNTAX score was caculated by SYNTAX score algorithm. Multiple linear regression and ordinal logsitic regreesion was used to analyze the association between eGFR and SYNTAX score. Results In patients with normal of renal function [eGFR≥90 ml/(min·1.73 m2), 110 patients], mild renal insufficiency [60 ml/(min · 1.73 m2) ≤ eGFR<90 ml/(min · 1.73 m2), 98 patients], midrange and severe renal insufficiency[eGFR<60 ml/(min · 1.73 m2), 48 patients], with the decrease in renal function of patients, SYNTAX score increased: (15.42 ± 9.65), (25.24 ± 8.34), (33.73 ± 10.15) scores, P<0.01. eGFR was an independent predictor of SYNTAX score (r=-0.059, P<0.01).eGFR was negatively correlated with SYNTAX score (r=-0.457, P<0.01). Conclusions eGFR is an independent predictor of SYNTAX score and negatively correlated with SYNTAX score in old patients with coronary heart disease. This might be helpful to explain the increased risk of coronary heart disease events and mortality in old patients with renal dysfunction.

Transcription factor Runx2 induces matrix extracellular phosphoglycoprotein promoter expression in preosteoblasts / 中国组织工程研究

BACKGROUND:Matrix extracel ular phosphoglycoprotein phosphorylated extracel ular matrix glycoprotein (MEPE) gene plays an important role in bone mineralization and absorption as wel as the balance of osteoblasts and osteoclasts. Studies on the function and regulatory mechanism of MEPE can provide new ideas for the treatment of osteoporosis. OBJECTIVE:To analyze the regulatory effects of transcription factor Runx2 on MEPE promoter in mouse preosteoblasts, thereby preliminarily studying the Runx2 effects in the process of bone formation and development. METHODS:First of al , the Runx2 eukaryotic expression vector was built according to the gene sequence of Runx2 in Genebank;then the dual luciferase reporter assay was employed to analyze the effects of Runx2 on transcription activity of MEPE promoters with different lengths in order to determine the promoter region in which Runx2 has significant effect. Afterwards, the effects of Runx2 on transcipition activity of MEPE gene promoter which induced by three MAPK signaling pathway inhibitors were investigated. Final y, real-time PCR was used to analyze the expression activity of MEPE gene promoter regulated by Runx2. RESULTS AND CONCLUSION:We successful y constructed the Runx2 eukaryotic expression vector. Dual luciferase reporter assay showed that Runx2 could increase the transcription activity of MEPE gene promoter in preosteoblasts, and the fragment area in which Runx2 exhibited the more significant up-regulatory effectiveness was (-300 to+66)366 bp. Runx2 could increase the transcription activity of MEPE gene promoter by activating the MAPK single pathway. The real-time PCR verified that Runx2 increased the expression activity of MEPE gene promoter. These findings indicate that Runx2 can regulate the express of MEPE gene promoter by the MAPK single pathway, in order to build the basis for exploring the process of bone formation and development.

Management and outcomes of patients with ST-elevation myocardial infarction in Liaoning province / 中华全科医师杂志

Objective To analyze the management and outcomes of patients with ST-segment elevation myocardial infarction (STEMI) in Liaoning province.Methods The data were collected from a prospective and multicenter registry study including 8 tertiary hospitals and 12 secondary hospitals in Liaoning province.Total 1429 patients with acute STEMI admitted to hospitals from June 2009 to June 2010 were included in the study.A unified follow-up questionnaire was applied on patient discharged.Results The average age of patients was (63 ± 13)years.37.4％ of patients recognized the disease as heart disease and 39.7％ were transported by emergency ambulance with a median symptom-to-door time of 150 min.52.9％ patients underwent emergency reperfusion therapy,including fibrinolytic therapy (24.4％) and primary percutaneous coronary intervention (PCI,28.1％).The in-hospital treatment included aspirin (99.6％),clopidogrel (81.9％),statins (90.1％),low molecular weight heparin (89.5％),β-blocker (66.0％),angiotensin converting enzyme inhibitor (ACEI)/ angiotensin receptor blocker (ARB)(66.6％).The in-hospital mortality was 10.7％ ; the mortality in females was higher than that in males (18.3％ vs.7.9％,P ＜ 0.01) and the mortality in older patients (≥ 65 years) was higher than that in younger patients (＜65 years)(17.0％ vs.5.2％,P ＜0.01).The follow-up treatment included:aspirin (81.1％),clopidogrel (45.0％),statins (61.0％),β-blocker (48.3％),ACEI/ARB (42.4％).The follow-up mortality was 5.0％ after hospital discharge.Conclusions Longer pre-hospital delay is commonly seen in STEMI patients.There is still certain gap of emergency reperfusion therapy and the evidence-based medication with related clinical guidelines of STEMI management in Liaoning.

Effect of Core Stability Training on Motor of Upper Limbs after Stroke / 中国康复理论与实践

@#Objective To explore the effect of core stability training (CST) on motor of upper limbs after stroke. Methods 60 patients with stroke were divided into observation group (n=30) and control group (n=30). Both groups accepted routine medicine and motor relearning program, and the observation group accepted CST before training. They were assessed with Simple Test for Evaluating Hand Function (STEF), modified Barthel index (MBI), and the Trunk Control Test (TCT) before and 4 weeks after treatment. Results The scores of STEF,MBI, and TCT improved after treatment in both groups (P<0.01), and improved more in the observation group than in the control group (P<0.01). Conclusion CST may facilitate the motor recovery of upper limbs after stroke.