Objective To investigate the relationships of nutritional status and length of stay (LOS) with phase angle (PA) in patients with severe craniocerebral injury. Methods A total of 100 patients [Glasgow Coma Scale (GCS) score ≤8 points] admitted outside the department of neurology were selected as study objects. Body composition analysis and blood samples were used to determine the intracellular and extracellular water content, skeletal muscle, PA, prognostic nutritional index (PNI) and LOS. Patients were divided into low PA group (n=42) and normal PA group (n=58) based on PA values. Body composition related indexes, PNI and LOS were compared between the two groups. The correlation between PA and each index was analyzed. The influencing factors of malnutrition were analyzed. The influencing factors of malnutrition were analyzed. Results Intracellular water, total body water, body cell content and PNI in the low PA group were significantly lower, and LOS was significantly longer than that in the normal PA group (P < 0.05). PA was positively correlated with intracellular water, extracellular water, total body water, skeletal muscle, body cell content, bone mineral content, basal metabolic rate and PNI (P < 0.05), while PA was negatively correlated with LOS (P < 0.05). PA (OR=5.441, P=0.001, 95%CI, 2.011 to 14.719) and LOS (OR=8.373, P < 0.001, 95%CI, 3.079 to 22.765) were the influential factors in the occurrence of malnutrition. Conclusion PA is significantly correlated with nutritional status and LOS in patients with severe craniocerebral injury.

Objective To examine the clinical distribution of primary intracranial tumors and analyze the risk factors for postoperative complications.Methods From January 2018 to December 2022,the clinical data of 961 patients with primary intracranial tumor in the Department of Neurosurgery of Tiantan Hospital in Beijing were collected and analyzed retrospectively.To examine the clinical distribution of patients with primary intracranial tumor and present the incidence of postoperative complications.To compare the basic data of patients with and without postoperative complications,and analyze the risk factors leading to postoperative complications.Results There were 363 cases of glioma,231 cases of meningioma,158 cases of sellar tumors,142 cases of neurilemmoma and 67 cases of other types of tumors.There were 679 cases of supratentorial tumors and 282 cases of infratentorial tumors.Postoperative complications occurred in 279 patients,and the incidence of postoperative complications was 29.03％.The incidences of intracranial infection,pulmonary infection,hyponatremia,lower extremity venous thrombosis and central nervous system infection were 9.37％,5.41％,4.99％,4.47％and 4.27％,respectively.After surgery,D-dimer(D-D),fibrin degradation products(FPD),prothrombin time(PT)in patients with primary intracranial tumors were significantly higher than those in patients without primary intracranial tumors(P<0.05).Activation of partial thromboplastin time(APTT),and thrombin time(TT)levels were significantly higher than those before surgery(P<0.05).Fibrinogen(FIB)was significantly lower than that before surgery(P<0.05).There were significant differences in tumor location,intraoperative blood loss,operation time,anesthesia recovery time and postoperative coagulation function between patients with and without postoperative complications(P<0.05).Conclusions The common types of primary intracranial tumors include gliomas,meningiomas,sellar tumors and neurilemmoma,etc.Surgical treatment has a high risk of postoperative complications.Common postoperative complications include intracranial infection,pulmonary infection,hyponatremia,lower extremity venous thrombosis,and central nervous system infection.Tumor location,operation duration,intraoperative blood loss,anesthesia recovery time and postoperative coagulation dysfunction are all risk factors for postoperative complications.

OBJECTIVE: To explore the genetic basis for a child with metachromatic leukodystrophy (MLD). METHODS: Clinical data of the patient was collected. Genomic DNA was extracted from peripheral blood samples of the child and his family members. Potential variant was screened by whole exome sequencing (WES), and candidate variant was verified by Sanger sequencing. The pathogenicity the variant was analyzed by multiple sequence alignment of the amino acid sequence and three-dimensional model prediction of its protein product. RESULTS: The child was found to harbor compound heterozygous variants c.257G>A (p.R86Q) and c.467del (p.G156Afs*6) of the ARSA gene, among which the c.467del (p.G156Afs*6) frameshift variation was unreported previously. Multiple sequence alignment showed that the site of the c.257G>A (p.R86Q) missense variant is highly conserved. Three-dimensional structure modeling analysis showed that the partial deletion due to the p.G156Afs*6 variant may cause significant alteration of the structure of ARSA protein. CONCLUSION The discovery of novel variant in ARSA has enriched the mutational spectrum of MLD and may facilitate the understanding of the genotype-phenotype correlation of MLD.
Cerebroside-Sulfatase/genetics* ; DNA ; Genetic Association Studies ; Humans ; Leukodystrophy, Metachromatic/genetics* ; Mutation

Objective:To estimate the safety of myomectomy in twin pregnant women with intramural myomas during cesarean section.Methods:The clinical data of 145 cases of twin pregnancies with intramural myomas who were delivered by cesarean section in Beijing Obstetrics and Gynecology Hospital, Capital Medical University from June 2013 to December 2021 were collected. Maternal demographics, fibroids′ characteristics, maternal and fetal outcomes were compared between groups of cesarean section with myomectomy (myomectomy group, 49 cases) and cesarean section only (non-myomectomy group, 96 cases).Results:Compared with non-myomectomy group, myomectomy group had significantly prolonged operative time [50.0 minutes (37.5-57.5 minutes) vs 40.0 minutes (35.0-50.0 minutes), respectively; P=0.007] and significantly longer postoperative hospital stay [4.0 days (3.0-4.0 days) vs 3.0 days (3.0-4.0 days), respectively; P=0.047). Other maternal and fetal outcomes such as estimated blood loss, hemoglobin difference, postpartum hemorrhage, blood transfusion, B-Lynch structure, uterine artery ligation, postoperative fever and neonatal Apgar score showed no significant differences (all P>0.05). For intramural myomas <5 cm, there were no significant differences in maternal and fetal outcomes between myomectomy group and non-myomectomy group (all P>0.05). For intramural myomas ≥5 cm, operative time [55.0 minutes (40.0-60.0 minutes) vs 42.5 minutes (40.0-50.0 minutes), respectively; P=0.019] was significantly prolonged, postoperative hospital stay [4.0 days (4.0-5.0 days) vs 4.0 days (3.0-4.0 days), respectively; P=0.048] was significantly longer in myomectomy group than non-myomectomy group, but there were no significant differences in other maternal and fetal outcomes (all P>0.05). Conclusion:For twin pregnancies with intramural myomas, it is safe and feasible to remove intramural myomas during cesarean section by experienced obstetricians.

Organoid models are used to study kidney physiology, such as the assessment of nephrotoxicity and underlying disease processes. Personalized human pluripotent stem cell-derived kidney organoids are ideal models for compound toxicity studies, but there is a need to accelerate basic and translational research in the field. Here, we developed an automated continuous imaging setup with the "read-on-ski" law of control to maximize temporal resolution with minimum culture plate vibration. High-accuracy performance was achieved: organoid screening and imaging were performed at a spatial resolution of 1.1 μm for the entire multi-well plate under 3 min. We used the in-house developed multi-well spinning device and cisplatin-induced nephrotoxicity model to evaluate the toxicity in kidney organoids using this system. The acquired images were processed via machine learning-based classification and segmentation algorithms, and the toxicity in kidney organoids was determined with 95% accuracy. The results obtained by the automated "read-on-ski" imaging device, combined with label-free and non-invasive algorithms for detection, were verified using conventional biological procedures. Taking advantage of the close-to-in vivo-kidney organoid model, this new development opens the door for further application of scaled-up screening using organoids in basic research and drug discovery.
Humans ; Kidney ; Organoids ; Pluripotent Stem Cells

The identification and diagnosis of coronavirus disease 2019 (COVID-19) is of great significance in the treatment of COVID-19. Based on Diagnosis and Treatment Protocol for COVID-19 (Trial Version 5) issued on February 8, 2020 by the National Health Commission, there is no fungal pneumonia among the disease listed in the identification and diagnosis item. Thus, we reported a case of patient with AIDS associated with pneumocystis carinii severe pneumonia admitted to Shanghai Fourth People′s Hospital affiliated to Tongji University School of Medicine in January, 2020, which was helpful in improving the identification and diagnosis of COVID-19.

Objective To standardize an expert consensus on pulmonary rehabilitation nursing of chronic respiratory diseases. Methods On the basis of literature review, 5 experts were interviewed and 19 experts were consulted to establish the primary and secondary themes. 10 nursing experts in this field were invited to conduct peer review on the draft consensus to modify and improve the consensus content. Results After expert consultations，14 first-level themes and 40 second-level themes were established. The value of Ca (judgment coefficient),Cs (familiarity coefficient) and Cr (authority coefficient) were 0.895,0.839 and 0.867 ,which indicated the expert consultation have high authority and credibility. The Kendall coefficients of first-round expert consultation were 0.121 and 0.151, and they were 0.205 and 0.149 in the second round (P<0.05).In the first-round expert consultation, the coefficients of variation of the first and second themes were 0.197 and 0.200,and in the second round ,they were 0.202 and 0.237. They were all less than 0.25 , indicating that the expert's judgment results were relatively consistent. Conclusion As this consensus was developed based on 19 clinical nursing professionals from across the country, it is scientific and authoritative. This consensus can not only benefit to clinical nursing practice, but also lay the foundation for the development of guideline, and it still needs further theoretical and empirical research verification.

OBJECTIVE: To detect potential mutations of the PKHD1 gene in two pedigrees affected with infantile polycystic kidney disease. METHODS: Clinical data and peripheral venous blood samples were collected from the probands and their parents as well as fetal amniotic fluid cells. Genome DNA was extracted from the peripheral blood samples and amniotic fluid cells. Exons 32 and 61 of the PKHD1 gene were amplified with PCR and subjected to direct sequencing. RESULTS: The proband of pedigree 1 was found to carry c.4274T>G (p.Leu1425Arg) mutation in exon 32 and c.10445G>C (p.Arg3482Pro) mutation in exon 61 of the PKHD1 gene, which were inherited from her father and mother, respectively. The fetus has carried the c.4274T>G (p.Leu1425Arg) mutation. In pedigree 2, the wife and her husband had respectively carried a heterozygous c.5979_5981delTGG mutation and a c.9455delA mutation of the PKHD1 gene. No chromosomal aberration was found in the umbilical blood sample, but the genetic testing of their fetus was failed. Based on software prediction, all of the 4 mutations were predicted to be pathogenic. CONCLUSION PKHD1 c.4274T>G (p.Leu1425Arg), c.10445G>C (p.Arg3482Pro), c.5979_5981delTGG and c.9455delA were likely to be pathogenic mutations. The results have facilitated genetic counseling and prenatal diagnosis for the two pedigrees.
DNA Mutational Analysis ; Female ; Genetic Counseling ; Humans ; Mutation ; Pedigree ; Polycystic Kidney Diseases ; diagnosis ; genetics ; Pregnancy ; Prenatal Diagnosis ; Receptors, Cell Surface ; drug effects

Objective To explore the significance of long non-coding RNA (lncRNA) taurine up-regulated gene 1 (TUG1) in hepatocellular carcinoma (HCC),to predict the target gene of TUG1,and to provide a ref-erence for further study of TUG1 in HCC.Methods The differential expression of TUG1 in HCC was ana-lyzed by using the UALCAN database and the survival analysis of TUG1 was performed.The target gene of TUG1 was predicted by RegRNA 2.0 biology software,HMDD,targetscan and microT-CDS,and the regulato-ry network of lncRNA TUG1-microRNAs-mRNAs was constructed.The predicted target gene was analyzed by Gene Ontology (GO) and KEGG signal transduction pathway enrichment by using FunRich platform. Results TUG1 expression in HCC was significantly increased,and the expression level of TUG1 increased generally with the increase of tumor grade.The overall survival of patients with low expression of lncRNA TUG1 was significantly longer than that of lncRNA TUG1 high expression patients.There were four possible binding sites of HCC related microRNAs (hsa-mir-122-5p,hsa-mir-200a-3p,hsa-mir-34c-3p,hsa-mir-629-3p) on TUG1,which regulated 245 downstream target genes and formed the regulatory network of lncRNA TUG1-microRNAs-mRNAs.In the biological process,microRNA target genes were highly enriched in the processes such as the regulation of nucleobase,nucleoside,nucleotide and nucleic acid metabolism.In KEGG pathway analysis,microRNA target genes were highly enriched to the signal pathways mediated by Syndecan and TRAIL.Conclusion TUG1 expression level in HCC increased.Increased expression of TUG1 is associat-ed with poor prognosis in HCC.Bioinformatics methods can be used to explore the mechanism of tumorigene-sis from the molecular level,which can provide valuable information for subsequent experiments and clinical diagnosis and treatment.

Objective To evaluate the value of 2012 classification criteria for early rheumatoid arthritis (ERA),2010 American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) classification criteria,and 1987 ACR classification criteria in the diagnosis of early rheumatoid arthritis (RA).Methods Patients who had at least one swollen and tender joint with disease duration no more than 2 years,and age more than 16 years were enrolled.The patients were diagnosed as RA or other non-RA by 2 experienced rheumatologists.The clinical and laboratory parameters were recorded.The sensitivity and specificity of three RA classification criteria were compared by McNemar test,The areas under the receiver operating characteristic curve (ROC) curve (AUC) of each RA classification criteria were analyzed using MedCalc software.Results Atotal of 310 patients were enrolled in this study,including 182ERA and 128 non-RA.The sensitivity(88.5％) of ERA criteria was much higher than that of the 1987 ACR criteria (45.6％,x2=75.013,P＜0.05),and not significantly different with the 2010 ACR/EULAR criteria (91.8％,X2=1.042,P＞0.05).The specificity of ERA criteria (91.4％) of 2010 ACR/EULAR criteria (87.5％,x2=1.8,P＞0.05) was similar to that of the 1987 ACR criteria (96.1％,x2=3.1,P＞0.05).The AUC of ERA criteria was 0.962 [95％CI(0.934,0.980)],which was slightly better than that of the 2010 ACR/EULAR criteria 0.959 [95％CI(0.931,0.978)],Z=0.380,P=0.7038,and much higher than that of the 1987 ACR criteria 0.885 [95％CI (0.845,0.919)],Z=4.517,P＜0.01.Conclusion Overall evaluation,the diagnostic value of ERA criteria is better than 1987 ACR and 2010 ACR/EULAR criteria in early rheumatoid arthritis.Compared to 2010 ACR/EULAR classification criteria,ERA criteria is more simple and practical.