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.

Background It is still unclear whether the vitrification procedure itself is associated with the incidence of abnormal DNA methylation during oocytes vitrification.The purpose of this study was to evaluate the epigenetic profile of mouse oocytes,which went through vitrification either at a mature stage or at an immature stage following in vitro maturation (IVM) by analyzing the global DNA methylation.Methods Metaphase Ⅱ (M Ⅱ) stage and germinal vesicle (GV) stage oocytes were collected from adult female mice and were vitrified respectively.The M Ⅱ oocytes were assessed for cryo-survival and global DNA methylation.The GV oocytes were assessed for cryo-survival and only the surviving GV oocytes were cultured in vitro for subsequent assessment of global DNA methylation in mature oocytes.In vivo matured fresh M Ⅱ oocytes without undergoing vitrification were used as control.The level of global DNA methylation in the M Ⅱ oocytes was then examined by immunofluorescence using an anti-5-methylcytosine (anti-5-MeC) monoclonal antibody and fluorescein isothiocyanate (FITC)-conjugated goat anti-mouse IgG under a laser scanning confocal microscope.Results In terms of the effect of vitrification on global DNA methylation status in matured oocytes,in the M Ⅱ-v group,all the examined oocytes (90/90) were found with hypermethylation,including 63.3％ (57/90) of them displaying DNA methylation of a very high level,25.6％ (23/90) with a high level,and 11.1％ (10/90) with an intermediate level,whereas in the GV-v group,all the matured oocytes (129/129) were also examined with hypermethylation,including 67.4％ (87/129) of them displaying DNA methylation of a very high level,23.3％ (30/129) with a high level,and 9.3％ (12/129) with an intermediate level.Statistically,it was similar between both groups,which were similar to the control:68.6％ (83/121) of fresh M Ⅱ oocytes displayed DNA methylation of a very high level,21.5％ (26/121) with a high level,and 9.9％(12/121) with an intermediate level (P ＞0.05).In terms of the effect of IVM on global DNA methylation status in matured oocytes,in the in vivo matured oocytes group,all oocytes examined (94/94) were found with hypermethylation,including 80.9％ (76/94) displaying DNA methylation of a very high level and 19.1％ (18/94) with a high level,whereas in the in vitro matured oocytes group,all oocytes examined (69/69) were also found with hypermethylation:85.2％ (56/69) of them displayed with DNA methylation of very high level,11.9％ (11/69) with high level,and 2％ (2/69) with intermediate level.This result was similar to that in in vivo matured fresh M Ⅱ oocytes (P ＞0.05).Conclusion The vitrification procedure at GV stage does not induce widespread alteration of global DNA methylation status of mouse oocytes subsequently matured in vitro.

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.

Objective:To determine the karyotype of a patient with mosaicism complex structural aberration of chromosome 18.Methods:A male patient with a 2-year history of infertility presented at the Center of Reproductive Medicine of the Third Hospital of Peking University in October 2019 was selected as the study subject. Clinical data of the patient was collected. Peripheral blood sample was taken for chromosomal karyotyping, copy number variation (CNV) analysis and fluorescence in situ hybridization (FISH) assay. Semen sample was taken for single sperm CNV analysis. Results:The patient was found to have a karyotype of mos 47, XY, del(18)(q21q23), + r(18)(q21q23)[84]/46, XY, del(18)(q21q23)[9]/48, XY, del(18)(q21q23), + r(18)(q21q23)×2[6]/47, XY, del(18)(q21q23), + r(18)(q21q23×2)[1]. ish 47, XY, del(18)(q21q23), + r(18)(q21q23)[84]/46, XY, del(18)(q21q23)[9]/48, XY, del(18)(q21q23), + r(18)(q21q23)×2[6]/47, XY, del(18)(q21q23), + r(18)(q21q23×2)[1]del(18)(q21q23)( D18Z1+, 18p+, 18q+, WCP18+ ), r(18)(q21q23)(WCP18+ ), r(18)(q21q23×2)(WCP18+ ). No pathogenic CNV was identified. Sequencing of 20 single sperms showed that 1 sperm was normal, 1 had yielded no result, 9 had harbored del(18q), 7 had harbored dup(18q)×2, and 2 had harbored dup(18q)×3. The dup/del fragments had both spanned approximately 33 Mb. Conclusion:It is rare for carriers of complex structural and numerical abnormalities of chromosome 18 to have a normal phenotype. Based on the accurate cytogenetic and molecular analyses and the single sperm CNV analysis, the influence of the aberrant karyotype on the gametogenesis may be evaluated.

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

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

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.

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*