Objective To investigate the evaluation of the nursing staff of the tertiary hospitals in Shenzhen City on the status quo of the nursing clinical support system,and to analyze its influencing factors so as to provide reference and basis for perfecting the nursing clinical support system.Methods The nursing staffs in 16 hospitals of 8 districts of Shenzhen City from December 2022 to January 2023 were selected as the survey subjects,and the general data questionnaire and the nursing clinical support system questionnaire were used for conducting the survey.Results A total of 572 questionnaires were collected,and 520 questionnaires were valid,with an effective recovery rate of 90.9％.The scores of each dimension in the nursing clinical sup-port system scale were(1.87±0.81)points for equipment and appliance support,(1.07±0.62)points for aux-iliary staff support,(1.91±0.80)points for the logistics departments support,(0.88±0.67)points for the auxiliary departments support.The results of univariate analysis showed that there were statistical differences in the equipment and appliance support scores among the nurses with different ages,different professional ti-tles and different education levels(P＜0.01);the scores of 4 dimensions had statistical differences among the nursing staffs with different departments(P＜0.01).All factors had statistically significant differences in the dimension of auxiliary department support(P＜0.05).Conclusion The popularity degree of nursing clinical support system in tertiary hospitals in Shenzhen City is high,and equipment and appliance show the character-istics of advancement and diversity.The hospital managers should strengthen the force of nursing clinical sup-port system and reduce the nursing staff to engage in non-nursing work.

Paroxysmal kinesigenic dyskinesia (PKD) is the most common subtype of paroxysmal movement disorders, characterized by the chorea and dystonia triggered by sudden changes in movement or posture. The condition can be effectively controlled by medications such as carbamazepine and oxcarbazepine. PKD is an autosomal dominant inherited disorder, with causative genes identified as PRRT2 and TMEM151A. Due to insufficient understanding of this condition among clinicians, it is frequently misdiagnosed as epilepsy or hysteria, leading to delay of treatment. The systematic overview about the etiology, pathogenesis, epidemiology, clinical manifestations, auxiliary investigations, diagnostic criteria, differential diagnosis, therapeutic approaches, and prognosis of PKD is provided in this article.

BACKGROUND: Juvenile amyotrophic lateral sclerosis (JALS) is an uncommon form of amyotrophic lateral sclerosis whose age at onset (AAO) is defined as prior to 25 years. FUS mutations are the most common cause of JALS. SPTLC1 was recently identified as a disease-causative gene for JALS, which has rarely been reported in Asian populations. Little is known regarding the difference in clinical features between JALS patients carrying FUS and SPTLC1 mutations. This study aimed to screen mutations in JALS patients and to compare the clinical features between JALS patients with FUS and SPTLC1 mutations. METHODS: Sixteen JALS patients were enrolled, including three newly recruited patients between July 2015 and August 2018 from the Second Affiliated Hospital, Zhejiang University School of Medicine. Mutations were screened by whole-exome sequencing. In addition, clinical features such as AAO, onset site and disease duration were extracted and compared between JALS patients carrying FUS and SPTLC1 mutations through a literature review. RESULTS: A novel and de novo SPTLC1 mutation (c.58G>A, p.A20T) was identified in a sporadic patient. Among 16 JALS patients, 7/16 carried FUS mutations and 5/16 carried respective SPTLC1 , SETX , NEFH , DCTN1 , and TARDBP mutations. Compared with FUS mutation patients, those with SPTLC1 mutations had an earlier AAO (7.9 ± 4.6 years vs. 18.1 ± 3.9 years, P  < 0.01), much longer disease duration (512.0 [416.7-607.3] months vs. 33.4 [21.6-45.1] months, P  < 0.01), and no onset of bulbar. CONCLUSION Our findings expand the genetic and phenotypic spectrum of JALS and help to better understand the genotype-phenotype correlation of JALS.
Humans ; Amyotrophic Lateral Sclerosis/genetics* ; DNA Helicases/genetics* ; Genetic Association Studies ; Multifunctional Enzymes/genetics* ; Mutation/genetics* ; RNA Helicases/genetics* ; RNA-Binding Protein FUS/genetics* ; Serine C-Palmitoyltransferase/genetics* ; Child, Preschool ; Child ; Adolescent ; Young Adult

Proline-rich transmembrane protein 2 (PRRT2) is the leading cause of paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), and infantile convulsions with choreoathetosis (ICCA). Reduced penetrance of PRRT2 has been observed in previous studies, whereas the exact penetrance has not been evaluated well. The objective of this study was to estimate the penetrance of PRRT2 and determine its influencing factors. We screened 222 PKD index patients and their available relatives, identified 39 families with pathogenic or likely pathogenic (P/LP) PRRT2 variants via Sanger sequencing, and obtained 184 PKD/BFIE/ICCA families with P/LP PRRT2 variants from the literature. Penetrance was estimated as the proportion of affected variant carriers. PRRT2 penetrance estimate was 77.6% (95% confidence interval (CI) 74.5%-80.7%) in relatives and 74.5% (95% CI 70.2%-78.8%) in obligate carriers. In addition, we first observed that penetrance was higher in truncated than in non-truncated variants (75.8% versus 50.0%, P = 0.01), higher in Asian than in Caucasian carriers (81.5% versus 68.5%, P = 0.004), and exhibited no difference in gender or parental transmission. Our results are meaningful for genetic counseling, implying that approximately three-quarters of PRRT2 variant carriers will develop PRRT2-related disorders, with patients from Asia or carrying truncated variants at a higher risk.
Dystonia ; Epilepsy, Benign Neonatal/genetics* ; Humans ; Membrane Proteins/genetics* ; Mutation ; Nerve Tissue Proteins/genetics* ; Pedigree ; Penetrance ; Seizures/genetics*

Objective:To summarize and analyze the clinical data of Chinese patients with colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy, and clarify the phenotypic and genetic characteristics of Chinese patients.Methods:Medical history of patients with CSF1R-related leukoencephalopathy diagnosed from April 1, 2018 to January 31, 2021 in the department of neurology of 22 hospitals in China was collected, and scores of Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment Scale (MoCA), magnetic resonance severity scale were evaluated. Group comparison was performed between male and female patients.Results:A total of 62 patients were included, and the male-female ratio was 1∶1.95. The age of onset was (40.35±8.42) years. Cognitive impairment (82.3%, 51/62) and motor symptoms (77.4%,48/62) were the most common symptoms. The MMSE and MoCA scores were 18.79±7.16 and 13.96±7.23, respectively, and the scores of two scales in male patients (22.06±5.31 and 18.08±5.60) were significantly higher than those in females (15.53±7.41 , t=2.954, P=0.006; 10.15±6.26, t=3.328 , P=0.003). The most common radiographic feature was bilateral asymmetric white matter changes (100.0%), and the magnetic resonance imaging severity scale score was 27.42±11.40, while the white matter lesion score of females (22.94±8.39) was significantly higher than that of males (17.62±8.74 , t=-2.221, P<0.05). A total of 36 CSF1R gene mutations were found in this study, among which c.2381T>C/p.I794T was the hotspot mutation that carried by 17.9% (10/56) of the probands. Conclusions:The core phenotypic characteristics of CSF1R-related leukoencephalopathy in China are progressive motor and cognitive impairment, with bilateral asymmetrical white matter changes. In addition, there exist gender differences clinically, with severer cognitive impairment and imaging changes in female patients. Thirty-six CSF1R gene mutations were found in this study, and c.2381T>C/p. I794T was the hotspot mutation.

Objective:To propose a Chinese diagnostic criterion for rosacea on the basis of clinical feature analysis of rosacea, and to assess its sensitivity and specificity.Methods:A total of 3 350 Chinese patients with newly diagnosed rosacea were collected from Department of Dermatology, Xiangya Hospital, Central South University between December 2017 and July 2018, their phenotypes and clinical features were retrospectively analyzed, and a Chinese modified diagnostic criterion for rosacea was put forward. A national multi-center clinical observational trial, which included 2 269 patients with rosacea and 2 408 patients with other facial skin diseases from 28 centers, was conducted to verify this diagnostic criterion. Then, the sensitivity and specificity of the modified diagnostic criterion were evaluated by comparing with the 2017 standard classification of rosacea developed by the National Rosacea Society Expert Committee (NRSEC) .Results:Fixed centrofacial erythema occurred in 3 350 (100%) patients with rosacea. Flushing occurred before or simultaneously with fixed erythema in 1 850 (99.4%) of the 1 861 patients with erythema on the cheeks; among the 1 489 patients with erythema on the nose or perioral area, only 52 (3.5%) had flushing; all the 342 patients presenting with phymatous changes had fixed erythema before phymatous changes. Based on the above clinical findings, it was proposed that patients with periodically aggravated fixed erythema on the cheeks accompanied with flushing could be diagnosed with rosacea; patients with fixed erythema on the nose and perioral area accompanied with at least one of selective phenotypes (flushing, telangiectasia, papules and pustules, phymatous changes, or ocular manifestations) could be diagnosed with rosacea. The national multi-center clinical observational trial revealed that the sensitivity of the Chinese modified diagnostic criterion for rosacea was 99.6%, which was close to the sensitivity (100%) of the NRSEC standard, and its specificity was 91.9%, higher than the specificity (73.3%) of the NRSEC standard.Conclusion:The Chinese modified diagnostic criterion for rosacea has good sensitivity and specificity, and can facilitate the early diagnosis of phymatous rosacea.

Objective To compare the short-term therapeutic effects of reconstruction plate versus locking compression plate in the treatment of comminuted fracture of midshaft clavicle in the aged patients.Methods A retrospective analysis was performed of the 64 aged patients who had been treated from March 2009 to April 2015 for comminuted fracture of midshaft clavicle with reconstruction plate or locking compression plate.They were divided into 2 groups according to their treatment methods.There were 30 patients in the reconstruction plate group,14 males and 16 females with an average age of 67.9±5.6 years;there were 34 patients in the locking compression plate group,15 males and 19 females with an average age of 67.1 ± 5.3 years.The 2 groups were compared in terms of operation time,blood loss,fracture healing time,internal fixation failure and shoulder functional recovery.Results The reconstruction plate and locking compression plate groups were followed up for 13.2 ± 3.2 and 12.4 ± 2.9 months,respectively.For the 2 groups,respectively,the average operation time was 62.2 ± 10.7 min and 58.1 ± 11.4 min,the average amount of blood loss during operation 35.2 ± 10.7 mL and 30.4 ±9.6 mL,the average fracture healing time 4.7 ±0.7 months and 4.5 ± 0.7 months,and the excellent to good rate of shoulder function 86.7％ (26/30) and 91.2％ (31/34),showing no significant difference between the 2 groups (all P ＞ 0.05).Five cases (16.7％) reported plate breakage,screw loosening or delayed union due to fixation failure in the reconstruction plate group but none reported fixation failure in the locking compression plate group,showing a significant difference (P ＜ 0.05).There were no significant difference between the 2 groups in fracture nonunion,malunion,neurovascular injury or acromioclavicular arthritis (P ＞ 0.05).Conclusion Since locking compression plate may lead to a lower incidence of fixation failure compared with reconstruction plate,it is recommendable for elderly patients with comminuted fracture of midshafi clavicle.

Objective To compare the clinical effect and safety of two kinds of quadruple therapy on the basis of omeprazole and rabeprazole in the treatment of patients with active gastric ulcer and Hp positive.Methods 104 patients with active gastric ulcer and Hp positive were chosen,and they were randomly divided into two groups including A group (52 patients)with omeprazole treatment,and B group (52 patients)with rabeprazole treatment on the basis of amoxicillin +clarithromycin +bismuth potassium citrate.The clinical efficacy,clinical symptom remission rate in 7d,14d and 28d after treatment,HP eradication rate,recurrence rate with follow -up and adverse reaction inci-dence of 2 groups were compared.Results The clinical cure rate of B group was significantly higher than A group (36.54% vs.19.23%)(χ2 =8.74,P <0.05).There was no significant difference in the clinical total effective rate between the two groups(P <0.05).The clinical symptom remission rates in 7d and 14d after treatment of B group were significantly higher than A group(96.15% vs.76.92%,96.15% vs.78.85%,98.08% vs.82.69%;98.08%vs.84.62%,100.00% vs.82.69%,100.00% vs.88.46%)(χ2 =8.74,7.20,7.91;7.05,6.86,6.33;all P <0.055).The Hp eradication rate of B group was significantly higher than A group(92.31% vs.73.07%)(χ2 =9.24,P <0.05).The recurrence rate of B group was significantly lower than A group(7.69% vs.25.00%)(χ2 =10.62,P <0.05).The incidence rate of adverse reaction of B group was significantly lower than A group(3.85% vs. 13.46%)(χ2 =7.85,P <0.05).Conclusion Compared with omeprazole,quadruple therapy on the basis of rabe-prazole in the treatment of patients with active gastric ulcer and Hp positive can effectively relieve the digestive symp-toms,promote ulcer repair process,higher the Hp removal effects,prevent the long -term recurrence and is helpful to reduce the adverse drug reactions risk.

Objective To study the activation of Janus protein tyrosine kinase (JAK)/signal transducer and activator of transcription 1 (STAT1) signaling pathway and its inhibitor-signal transducer and activator of transcription-1(SOCS-1) in patients with systemic lupus erythematosus. Methods A total of 45 patients with active systemic lupus erythematosus (SLE) and 30 healthy controls were randomly selected. Western blot was performed to measure the expression of Stat1 protein and phospho-Stat1 protein (an activated form of Stat1 protein) in the monocytes after stimulation with recombinant high mobility group box1 (rHMGB1) at various time points. Expression of Stat1 protein in the skin or lesional skin was also detected. Phasic expressions of SOCS-1 mRNA in the monocytes after rHMGB1 stimulation were detected by real-time reverse transcription-polymerase chain reaction. SOCS-1 gene expression in the skin or lesional skin was also detected. Results The expression level of Stat1 proteins in the monocytes from patients with SLE was higher than that from healthy controls (t=9.16,P＜0.01) and positively correlated with SLE disease activity index (SLEDAI) (r=0.59,P＜0.01). Expression of phospho-Stat1 in the monocytes from SLE patients was time-dependently upregulated after stimulation with rHMGB1 at various time points, while expression of SOCS-1 mRNA remained unchanged(all P＞0.05). Expressions of phospho-Stat1 protein and SOCS-1 mRNA in the monocytes from healthy controls were increased transiently after stimulation with rHMGB1(all P＜0.05). Both expressions of phospho-Stat1 protein and SOCS-1 gene in the lesional skin from patients with SLE were upregulated compared with those in normal skin from healthy controls (all P＜0.01). Conclusion There are hyperactivation of JAK-STAT1 signaling pathway and negative feedback down-regulation of SOCS-1 in patients with systemic lupus erythematosus. HMGB-1 may be partly involved in the pathogenesis of SLE by the abnormal mediating function of JAK-STAT1 signal transduction pathway.

The aim of this study is to investigate the growth and proliferation of bone marrow mesenchymal stem cells (BMSCs) three-dimensionally cultured in Pluronic F-127 gel, in order to explore the cellular compatibility of gel and to investigate the feasibility of BMSCs differentiating into adipocytes in gel. Rat BMSCs were isolated from adult bone marrow, and then cultured and amplified in vitro. The BMSCs derived from the 4th passage were seeded on the scaffolds and incubated in adipogenic stimuli culture to differentiate into adipocytes. BMSCs were dispersed into gel and cultured in vitro for two weeks then the status of adhesion, growth and proliferation of the cells were observed. The edipogenic differentiation of the BMSCs was assessed by cellular morphology and further confirmed by Oil Red O staining. BMSCs were able to attach, grow and proliferate well in Pluronic F-127 gel. The BMSCs differentiated into adipocytes in gel in the presence of adipogenic stimuli over a period of 2 weeks. After only 4 days of adipogenic induction, small lipid droplets were observed within BMSCs in gel wells treated with differentiation media. At the end of 14 days, in the presence of differentiation media in gel, the size of the lipid droplets increased to occupy most of the cytoplasm, consistent with differentiation of BMSCs into adipocytes. Lipid droplets in differentiating BMSCs were positively stained with Oil Red O in the presence of differentiation media in the Pluronic F-127 treatment. We demostrated BMSCs incubated in the 3D Pluronic F-127 gel scaffolds could be induced and differentiated into adipocytes. The system for inducing differentiation of BMSCs into adipocytes is promising to apply in the construction of tissue engineering adipose tissue and the repair of fat injury, and Pluronic F-127 gel may be a suitable scaffold for cellular therapy of BMSCs.
Adipocytes ; cytology ; Adipose Tissue ; cytology ; Animals ; Bone Marrow Cells ; cytology ; Cell Differentiation ; drug effects ; Cells, Cultured ; Hydrogels ; chemistry ; Mesenchymal Stromal Cells ; cytology ; Poloxamer ; chemistry ; Rats ; Rats, Sprague-Dawley ; Tissue Engineering