Sleep-wake disturbance is not only a risk factor for stroke,but also one of the serious complications of stroke.The main clinical manifestations of post-stroke sleep-wake disturbance are insomnia,arousal disorders,sleep-related movement disorders and parasomnias.Its mechanism is mainly associated with the sleep-wake center after stroke injury.

Objective To investigate the association between carotid atherosclerosis(AS) and serum magnesium(Mg) in hemodialyzed (HD) patients.Methods Clinical index was measured,and intimamedia thickness (IMT) of extracranial common carotid artery and presence of atherosclerotic plaques were determined by high-resolution B-mode ultrasonography.The data were analyzed between plaque positive group and plaque negative group.Results The age,serum phosphate (P),total cholesterol (TCH),low density lipoprotein (LDL),serum C-reactive protein (CRP),serum albumin(Alb),and serum Mg all had significant difference between two groups(t =4.153,2.908,2.301,6.322,5.791,2.341,7.778,P ＜0.01 or P ＜ 0.05).The risk factors of HD patients with AS were serum Mg and CRP(P ＜ 0.01).Conclusions The occurrence of AS was related to low Mg and high CRP in HD patients.

Objective To investigate the availability of N-terminal pro-brain natriuretic peptide (NT proBNP) in the detection of early ventricular diastolic dysfunction by polymyositis/dermatomyositis (PM/DM).Methods A total of 46 PM/DM patients without symptoms of heart involvement were prospectively studied by standard echocardiography and the longitudinal mitral annular velocities was measured by tissue Doppler echocardiography (TDI).Plasma NT-proBNP was measured in all patients.Multivariate Logistics regression analysis was applied to investigate the risk factors for early cardiac complications.The availability of NTproBNP was evaluated by receiver operating characteristic (ROC) analysis.Results There were 22 patients complicated with early diastolic dysfunction (E/Em ≥ 8) by TDI.The multi-factors Logistic regression analysis showed that the age of onset (OR=1.117,95％CI 1.005-1.243,P=0.040) and plasma NT-proBNP (OR=1.022,95％CI 1.001-1.042,P=0.036) were risk factors for early left ventricular diastolic dysfunction.The level of NT-proBNP was positively correlated with E/Em value(r=0.687,P=0.000).ROC showed NT-proBNP could reliably detectearly ventricular diastolic dysfunction [area under the curve 0.858 (95％ CI 0.735-0.981,P＜0.01)].If PM/DM patients with normal TDI(E/Em＜8) were used as controls,and 120 pg/ml was used as the cut-off concentration,the sensitivity and specificity of NT-proBNP for the early ventricular diastolic dysfunction was 81.8％ and 91.7％ respectively.Conclusion Age at onset and plasma NT-proBNP are risk factors for early left ventricular diastolic dysfunction.The level of NT-proBNP is positively correlated with E/Em value.The plasma NT-proBNP concentration higher than 120 pg/ml maybe a marker for early left ventricular diastolic dysfunction.

Objective To describe the clinical, neuroimaging and genetic profiles of amyotrophic lateral sclerosis with frontotemporal lobe degeneration ( ALS-FTLD).Methods From August 2011 to May 2015, patients with FTLD or other types of neurodegenerative dementia were physically examined in detail and electromyography was performed to those with suspected dysarthria, limb atrophy or weakness.Cognitive and behavioral screenings were performed to all ALS patients.Patients with ALS-FTLD entered further analysis of neuroimaging and genetics.Results Among the 8 patients diagnosed as ALS-FTLD, 4 patients began with personality change or amnesia, while diseases in the remaining 4 cases began with limb weakness or dysarthria.Dementia type of 7 cases was behavioral variant FTLD ( bvFTD) and 1 case was diagnosed as semantic dementia.Electromyography of all the 8 patients showed diffuse neurogenic changes.Constructional neuroimaging of 6 patients showed cerebral atrophy predominantly in frontal and temporal lobes.Fluorodeoxyglucose-positron emission tomography was conducted in 5 patients, indicating hypometabolism mainly in frontal and ( or) temporal lobes.NeuroQ analysis revealed that bilateral frontal lobes were the most hypometabolic areas for ALS-FTLD.Among 4 patients who underwent genetic screening, 1 patient was C9ORF72 mutation carrier.Conclusions bvFTD is the major type of dementia in the context of ALS.Metabolic neuroimaging could assist accurate diagnosis, and it reveals that bilateral frontal lobes are the most hypometabolic areas for ALS-FTLD.C9ORF72 gene mutation is an important pathogenic mutation for ALS-FTLD, although it is rare in Chinese population.

Communication between doctors and patients is an important way to establish good doctorpatient relationship.It is crucial to master doctor-patient communication skills and arts for general practitioners who will extensively serve the people in community for life-long time after completion of residency training.To improve the communication skills and to enhance the clinical competency of general practitioners,we applied the Balint special group activities as core of doctor-patient communication course in residency training program.Through 3 years of practice,we found that the application of Balint group enriched the teaching contents and form of general practice residency training;improved doctor-patient communication skills,and enhanced the competency and professionalism of general practice trainees.

OBJECTIVETo evaluate the effects of early tangential excision on the prevention of the progression of deep partial thickness burn wound.

METHODSTwelve burn patients with deep partial thickness burn wound were enrolled and received tangential excision of the burn wound within 24 postburn hours (PBHs). The histological samples were harvested from the wound before and 5 - 7 postoperative days (PODs) after the operation and the wound without operation 5 - 7 postburn days (PBDs). The samples were observed by means of HE staining, Masson's staining and the labelling of Vimentin antigen positive cells by immunohistological skill.

RESULTSThe inflammatory reaction of the burn wound without operation aggravated progressively along with that of disease and the tissue necrosis area enlarged. And the residual skin appendages disappeared due to the enhanced inflammatory reaction. The brown area expanded and light green area shrinked by Masson's staining. The Vimentin antigen positive cell count decreased significantly. But in the burn wound being performed tangential excision within 24 PBHs, focal inflammatory reaction exhibited evident ligher than that in burn wound without operation. Moreover, there appeared fresh granulation formation and partial epithelial coverage with no enlarged necrotic tissue area in the operated wound when compared with that in non-operated wound (P < 0.05). Furthermore, the light green area exhibited no obvious shrinking by Masson's staining and the Vimentin antigen positive cell count was much more in the operation area than that in non-operative area (P < 0.05).

CONCLUSIONIt might be beneficial to the host to perform tangential excision within 24 PBHs, which could remove burn wound necrotic tissue in time and hamper the progression of tissue degenerative injury. The healing process of deep partial thickness burn wound was therefore accelerated.

Adult ; Burns ; complications ; metabolism ; pathology ; Female ; Humans ; Male ; Necrosis ; Vimentin ; analysis ; Wound Healing

More than 7000 single gene diseases have been identified and most of them lack effective treatment. As an early form of prenatal diagnosis, preimplantation genetic diagnosis (PGD) is a combination of in vitro fertilization and genetic diagnosis. PGD has been applied in clinics for more than 20 years to avoid the transmission of genetic defects through analysis of embryos at early stages of development. In this paper, a review for the recent advances in PGD for single gene diseases is provided.
Animals ; Female ; Fertilization in Vitro ; Genetic Diseases, Inborn ; diagnosis ; embryology ; genetics ; Humans ; Pregnancy ; Preimplantation Diagnosis ; methods ; trends ; Prenatal Diagnosis ; methods ; trends

Objective:To summarize the construction and practice of the compulsory postgraduate course "reproductive genetics in gynecology and obstetrics" in Department of Gynecology and Obstetrics, Peking University, and to evaluate the teaching effect of this course.Methods:A total of 139 postgraduates who studied in Department of Obstetrics and Gynecology, Peking University, from 2019 to 2021 were enrolled as subjects, and a syllabus was constructed through a top-level design based on the "biological-psychological-social medicine pattern", with the teaching objectives of reproductive genetics theory, clinical translation, genetic counseling methods, and research advances. The teaching effect was evaluated by analyzing teaching assessment results, teaching evaluation feedback, and teaching achievements. SPSS 26.0 software was used to perform the t-test and the chi-square test. Results:The written test score, usual performance score, and total score of the postgraduate students in 2021 were higher than those in 2019 and 2020 [(73.50±8.19) vs. (70.94±14.90); (68.60±2.82) vs. (68.22±4.58); (90.58±4.18) vs. (89.49±7.60)], with significant differences in written test score and total score ( P<0.05). There was a high degree of satisfaction with the feedback of teaching, and 85.61% (119/139) of the students selected "great satisfaction"; in particular, there were increases in the degree of satisfaction with expanding research ideas and reflecting the advances in this discipline, but with no significant difference. There was a significant increase in the number of published articles. Conclusion:For the active implementation of the course of "Reproductive Genetics in Obstetrics and Gynecology", improving the teaching process in a planned and step-by-step way through a top-level design in advance can help to expand research ideas for future research work among postgraduates in obstetrics and gynecology and promote the sustainable development and improvement of the teaching of the emerging interdisciplinary discipline of reproductive genetics in obstetrics and gynecology.

Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron degenerative disease, which is the most common fatal neuromuscular disease in pediatrics with a high carrier frequency and can lead to progressive symmetrical muscle weakness and atrophy of the trunk and limbs. Preimplantation genetic testing (PGT) can be used to prevent the birth of children with SMA effectively. To standardize PGT technologies for SMA, experts from the fields of neurology, pediatrics and reproductive genetics have discussed and drafted this consensus for guiding its clinical application.
Child ; Consensus ; Genetic Testing ; Humans ; Muscular Atrophy, Spinal/genetics* ; Survival of Motor Neuron 1 Protein/genetics*

Objective:To investigate the expression pattern of TCR variable region subfamily (Vβ and Vδ) in patients with mature T-cell lymphoma (TCL), and to compare the diagnostic value of TCRVβ and TCRVδ analysis in TCL.Methods:The TCRVβ flow cytometry kit was used to detect the expression of Vβ subtypes of αβT cell in 199 patients with αβ TCL and 398 patients with non-TCL, who hospitalized in Jiangsu Provincial People Hospital from 2011 to 2020. Among them, 185 cases of αβ TCL and 355 cases of non-TCL also underwent TCRβ and TCRγ gene rearrangement detection. The TCRVδ based 10-color protocol was used to detect the expression of Vδ subtypes in 24 cases of γδTCL, 10 cases of normal controls, and 15 cases with reactively higher CD4 and CD8 double-negative ratio from 2017 to 2020, and 24 cases of γδTCL and 15 cases with reactively higher CD4 and CD8 double-negative ratio underwent TCRβ, TCRγ and TCRδ gene rearrangement detection. The diagnostic performance and degree of coincidence for detecting malignant clonality were compared between TCRVβ and TCRVδ analysis and the TCR gene scanning method.Results:In the 199 cases of αβ TCL, 182 cases (91.5%) showed restricted expression or the sum of the positive percentages of the subgroups was less than 30% for the 24 TCRVβ subtypes. Among them, the subfamily members with the highest incidence of clonal T lymphocytes were TCRVβ13.2 (12.6%, 23/182) and TCRVβ3 (8.2%,15/182); the TCRVβ subtypes showed nonclonal results in 99.0% (394/398) of non-TCL. All 24 cases of γδTCL (100%) showed abnormal distribution patterns of Vδ1 and Vδ2, of which 19 cases showed restricted expression of Vδ1, and the remaining 5 cases had negative expression of either Vδ1 or Vδ2, and the positive rate of Vδ1 cells was significantly higher than that of Vδ2 cells (79.9%±10.8% vs 0.7%±0.3%, P<0.001). Among the normal control and cases with reactively higher CD4 and CD8 double-negative ratio, the positive rate of Vδ2 cells was significantly higher than that of Vδ1 cells (73.7%±6.7% vs 15.6%±4.2%, P<0.001), and all cases (25/25) showed a normal distribution pattern. In terms of the diagnostic performance of TCL, there was no significant difference of sensitivity and specificity between TCR variable region subfamily detection by flow cytometry and TCR gene scanning technology (the sensitivity was 92.4% and 91.4% respectively; the specificity was 99.0% and 95.9% respectively, P=0.065), and the coincidence rate of the two diagnostic methods is high (Kappa=0.809, P<0.001). Conclusion:Detection of TCR variable region subfamily by flow cytometry could quickly and effectively diagnose mature TCL.