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AIM: To investigate the effect of phacoemulsification with steep meridian transparent corneal incision on visual function, corneal astigmatism and tear film changes.METHODS: A total of 106 cataract patients(106 eyes)who underwent phacoemulsification in our hospital from January 2019 to December 2020 were selected as research objects, and they were divided into observation group and control group according to the operation mode: with 51 patients in the observation group who were treated with steep meridian transparent corneal incision, and 55 patients in the control group who were treated with transnasal transparent corneal incision. The changes of visual function, corneal astigmatism and tear film between the two groups were compared before operation and at 1wk, 1 and 3mo after operation.RESULTS: There was no statistical difference between the operation of two groups(all P>0.05). The visual acuity was significantly improved at 1wk, 1 and 3mo after operation, and it was better in the observation group than that in the control group. Mean defect(MD)of visual field was significantly lower, and it was significantly lower in the control group(all P<0.05); The corneal astigmatism AKP(+0)of the two groups was significantly lower at 3mo after operation, and the observation group was significantly lower than the control group(P<0.05). There was no statistical difference in corneal astigmatism AKP(+45)(P>0.05); Schirmer Ⅰ test(SⅠt)value increased first and then decreased, and the valley value was at 1wk after operation; Tear film break-up time(BUT)decreased first and then increased, and the valley value was at 1wk after operation. SⅠt in the observation group was lower than that in the control group at each time point(all P<0.05), while BUT in the observation group was higher than that in the control group at each time point(all P<0.05).CONCLUSION: Steep meridian transparent corneal incision phacoemulsification surgery is beneficial to improve the postoperative visual function of patients, reduce postoperative corneal astigmatism, reduce the damage to the patient's tear film function, and promote its recovery.
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Hierarchical diagnosis and treatment system is an important measure to rationally allocate medical resources and promote the homogenization of basic medical services. The medical alliance is an important service mode and service system of hierarchical diagnosis and treatment, whose role is to perfect the up-down linkage and meet the patient′s medical needs. Informatization construction is an important starting point to promote the services of the medical alliance. In order to solve the problem of connectivity, the medical alliance needs to establish a regional referral platform and realize the integrated service of all medical institutions. Renji Hospital, Shanghai Jiaotong University School of Medicine, has built a blockchain based referral system for hierarchical diagnosis and treatment, incorporating the S2B2C mode concept, and using the traceability, tamper proof and distributed accounting features of blockchain technology, realized independent storage of data in hospitals, realized real-time information sharing and interconnection, and provided a feasible solution for medical alliance management.
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Objective:To analyze the efficacy and safety of enzyme replacement therapy (ERT) in Chinese patients with Fabry disease.Methods:A retrospective analysis of the clinical manifestations, genetic variations, family screening, treatments and adverse reactions was conducted in five patients with Fabry disease admitted to the First Affiliated Hospital of Zhejiang University College of Medicine from July 2020 to May 2021. The dosage of agalsidase β was 1 mg/kg by intravenous pump once every 2 weeks.Results:Five male patients with median age of 37 years old (29-51 years old) were diagnosed based on clinical features, family history, α-galactosidase A (α-Gal A) activity, genetic analysis results and kidney biopsy. The clinical manifestations varied in these five patients. All patients had abnormal electrocardiogram, abnormal cardiac ultrasonography and abnormal urinalysis results, three experienced acroparaesthesia during childhood (one patient had persistent pain until adulthood), three had cutaneous angiokeratoma, four had renal insufficiency, four had hypohidrosis, four had diarrheas, four had cornea verticillata and two had high-frequency hearing loss. Two missense mutations of the GLA gene were identified: c.272T>C(p.I91T) and c.868A>G(p.Met290Val). Two nonsense mutations were c.1024C>T(p.Arg342*) and c.838C>T(p.Gln280*). Furthermore, the frameshift mutation c.348del p.(Ile117Phefs*4) was detected, which was not included in the known database, presented with classical Fabry disease. There was no serious adverse reaction during agalsidase β infusion in 5 patients. ERT reduced the plasma globotriaosylsphingosine (lyso-GL-3) levels after treatment of 2-10 months ( P<0.05), and the long-term diarrhea symptom were significantly improved. Conclusions:The clinical manifestations of Fabry disease are varied. Severe adverse events rarely occur in patients treated with short-term ERT. Plasma lyso-GL-3 levels decrease significantly after treatment.
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Status epilepticus is a neurological emergency with unknown pathogenesis, controversial treatment options, and poor prognosis. In recent years, with the development of 18F-flurodeoxyglucose positron emission tomography ( 18F-FDG PET) imaging technology, further studies on status epilepticus have been carried out from the perspective of molecular metabolism. This article reviews the current role of 18F-FDG PET in patients with status epilepticus on etiology, disease activity, electric activity, location of epileptogenic foci, and prognosis evaluation.
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Mesenchymal stem cells (MSC) have been widely used in tissue regeneration and treatment graft versus host disease (GVHD) and immune diseases due to their self-renewal, multi-differentiation and immunoregulatory potential. However, more and more scholars begin to put weight on the MSC -derived extracellular vesicles (MSC-EV) for its regulation of inflammation and immunity. MSC-EV can activate the relevant signal pathways and regulate the function and biological behaviors of cells via acting on target cells and mediating communication between cells. MSC-EV has important potential clinical applications for its powerful immunomodulatory and hematopoietic regulatory functions. It is considered as a potential therapeutic tool to treat autoimmune diseases and GVHD. This paper reviewed the immunomodulatory activity of MSC-EV as well as the research progress of MSC-EV in hematopoietic stem cell transplantation, and discussed its potential clinical applications in the future.
Subject(s)
Humans , Cell Differentiation , Extracellular Vesicles/transplantation , Graft vs Host Disease/metabolism , Hematopoietic Stem Cell Transplantation , Mesenchymal Stem Cell Transplantation , Mesenchymal Stem CellsABSTRACT
OBJECTIVES@#To investigate the risk factors for necrotizing enterocolitis (NEC) in very preterm infants and establish a nomogram model for predicting the risk of NEC.@*METHODS@#A total of 752 very preterm infants who were hospitalized from January 2015 to December 2021 were enrolled as subjects, among whom 654 were born in 2015-2020 (development set) and 98 were born in 2021 (validation set). According to the presence or absence of NEC, the development set was divided into two groups: NEC (n=77) and non-NEC (n=577). A multivariate logistic regression analysis was used to investigate the independent risk factors for NEC in very preterm infants. R software was used to plot the nomogram model. The nomogram model was then validated by the data of the validation set. The receiver operating characteristic (ROC) curve, the Hosmer-Lemeshow goodness-of-fit test, and the calibration curve were used to evaluate the performance of the nomogram model, and the clinical decision curve was used to assess the clinical practicability of the model.@*RESULTS@#The multivariate logistic regression analysis showed that neonatal asphyxia, sepsis, shock, hypoalbuminemia, severe anemia, and formula feeding were independent risk factors for NEC in very preterm infants (P<0.05). The ROC curve of the development set had an area under the curve (AUC) of 0.833 (95%CI: 0.715-0.952), and the ROC curve of the validation set had an AUC of 0.826 (95%CI: 0.797-0.862), suggesting that the nomogram model had a good discriminatory ability. The calibration curve analysis and the Hosmer-Lemeshow goodness-of-fit test showed good accuracy and consistency between the predicted value of the model and the actual value.@*CONCLUSIONS@#Neonatal asphyxia, sepsis, shock, hypoalbuminemia, severe anemia, and formula feeding are independent risk factors for NEC in very preterm infant. The nomogram model based on the multivariate logistic regression analysis provides a quantitative, simple, and intuitive tool for early assessment of the development of NEC in very preterm infants in clinical practice.
Subject(s)
Child , Female , Humans , Infant , Infant, Newborn , Asphyxia/complications , Enterocolitis, Necrotizing/etiology , Fetal Growth Retardation , Hypoalbuminemia , Infant, Newborn, Diseases , Infant, Premature , Infant, Premature, Diseases/etiology , Nomograms , Sepsis/complicationsABSTRACT
Objective: To explore the surgical methods and effects of transoral endoscopic resection of benign tumors in parapharyngeal space via medial pterygomandibular raphe approach. Methods: The clinical data of 23 patients who underwent resection of benign tumors in parapharyngeal space by endoscopic medial pterygomandibular raphe approach from January 2016 to July 2020 in the Department of Otorhinolaryngology Head and Neck Surgery, the Affiliated Hospital of Qingdao University were analyzed retrospectively. There were 14 males and 9 females with a median age of 43 years. The tumors were located in the anterior space of the styloid process in 13 cases and in the posterior space in 10 cases. The smallest tumor volume was 7.3 ml and the largest was 80.2 ml. The preoperative imaging features, the characteristics and risks of this approach in the operation were analyzed, and the feasible mode of operation was explored. Results: All patients completed the operation successfully. The intraoperative blood loss was 20 to 50 ml, with an average of 28.3 ml. The operation time was 40 to 110 min, with an average of 75.4 min. The incision length was 2 to 4 cm, with an average of 3.0 cm. The postoperative pain score was 2 to 4, with an average of 3.2. The postoperative hospital stay was 4 to 9 d, with an average of 6.7 d. Postoperative pathological diagnosis included pleomorphic adenoma (n=12), neurilemmoma (n=10) and basal cell adenoma (n=1). The patients were followed up for 6 to 60 months. There was no postoperative complication such as infection or serious bleeding, and there was no tumor recurrence after operation. Conclusion: Endoscopic resection of benign tumor in parapharyngeal space via medial pterygomandibular raphe approach is a safe, effective, and minimally invasive surgical method for the treatment of tumors in parapharyngeal space.
Subject(s)
Adult , Female , Humans , Male , Neoplasm Recurrence, Local , Parapharyngeal Space , Pharyngeal Neoplasms/surgery , Pharynx , Retrospective StudiesABSTRACT
Objectives: To summarize the clinical phenotypes and the variation spectrum of ATP7B gene in Chinese children with Wilson's disease (WD) and to investigate their significance for early diagnosis. Methods: Retrospective analysis was performed on the clinical data of 316 children diagnosed as WD in Guangzhou Women and Children's Medical Center during the period from January 2010 to June 2021. The general situations, clinical manifestations, lab test results, imaging examinations, and ATP7B gene variant characteristics were collected. The patients were divided into asymptomatic WD group and symptomatic WD group based on the presence or absence of clinical symptoms at the time that WD diagnosis was made. The χ2 test, t test or Mann-Whitney U test were used to compare the differences between groups. Results: Among the 316 children with WD, 199 were males and 117 were females, with the age of 5.4 (4.0, 7.6) years at diagnosis; 261 cases (82.6%) were asymptomatic with the age of 4.9 (3.9, 6.4) years; whereas 55 cases (17.4%) were symptomatic with the age of 9.6 (7.3, 12.0) years. The main symptoms invloved liver, kidney, nervous system, or skin damage. Of all the patients, 95.9% (303/316) had abnormal liver function at diagnosis; 98.1% (310/316) had the serum ceruloplasmin lever lower than 200 mg/L; 97.7% (302/309) had 24-hour urine copper content exceeding 40 μg; only 7.4% (23/310) had positive corneal K-F rings, 8.2% (23/281) had abnormal MRI signals in the lenticular nucleus, and all of them had symptoms of damage in liver, kidney or nervous system. Compared with the group of symptomatic WD, asymptomatic group had higher levels of serum alanine aminotransferase and lower levels ceruloplasmin and 24-hour urine copper [(208±137) vs. (72±78) U/L, (55±47) vs. (69±48) mg/L, 103 (72, 153) vs. 492 (230, 1 432) μg; t=9.98, -1.98, Z=-4.89, all P<0.001]. Among the 314 patients completing genetic sequencing, a total of 107 mutations in ATP7B gene were detected, of which 10 are novel variants, and 3 cases (1.0%) had large heterozygous deletion (exons 10 to exon 11) in ATP7B gene. The percentage of missense mutation in asymptomatic WD children was significantly higher than that in symptomatic WD (81.5% (422/518) vs. 69.1% (76/110), χ²=8.47, P<0.05). WD patients carrying homozygous variant of c.2 333G>T had significantly low levels of ceruloplasmin than those not carrying this variant ((23±5) vs. (61±48) mg/L, t=-2.34, P<0.001). Conclusions: The elevation of serum ALT is an important clue for early diagnosis of WD in children, while serum ceruloplasmin and 24-hour urine copper content are specific markers for early diagnosis of WD. In order to confirm the diagnosis of WD, it is necessary to combine the Sanger sequencing with multiplex ligation-dependent probe amplification or other testing technologies.
Subject(s)
Child , Child, Preschool , Female , Humans , Male , Ceruloplasmin/metabolism , Copper/metabolism , Copper-Transporting ATPases/genetics , Hepatolenticular Degeneration/genetics , Mutation , Phenotype , Retrospective StudiesABSTRACT
Objective: To investigate the association between prealbumin and the long-term prognosis of patients with hilar cholangiocarcinoma(HCCA) following radical surgery. Methods: The clinical data of 262 HCCA patients who underwent radical surgery admitted from January 2010 to January 2017 at the First Affiliated Hospital of Army Medical University were collected,retrospectively. There were 158 males and 104 females; aged (57.6±9.9)years old(range:32 to 78 years). According to the preoperative serum prealbumin level(170 mg/L),the patients were divided into low prealbumin group(n=143) and normal prealbumin group(n=119). Follow-up until September 2020,the main research indicator was overall survival(OS), and the secondary research indicator was recurrence-free survival(RFS). The measurement data conforming to the normal distribution adopted the t test,the measurement data not conforming to the normal distribution adopted the Mann-Whitney U test,and the count data adopted the χ2 test. The Kaplan-Meier method was used to calculate the cumulative survival rate. The Log-rank test was used for univariate analysis of the cumulative survival rate. Variables with P<0.10 in univariate analysis were included in the Cox proportional hazards model for multivariate analysis. Results: The 1-, 3-, and 5-year OS rate of the 262 patients was 73.4%, 32.1%, and 24.0%, respectively, and the 1-, 3-, and 5-year RFS rate was 54.6%, 25.2%, and 16.2%, respectively. Median OS and RFS were 21 months and 12 months for patients with low prealbumin and 25 months and 19 months for patients with normal prealbumin. The OS rate and RFS rate of patients in the low prealbumin group were lower than those in the normal prealbumin group, and the difference was statistically significant (both P<0.05). The results of univariate analysis indicated that low prealbumin, CA19-9>150 U/L, tumor infiltration length>3 cm, preoperative jaundice, macrovascular invasion, microvascular invasion, lymph node metastasis, and poor differentiation maybe the risk factors of OS,and low prealbumin,tumor invasion length>3 cm,macrovascular invasion, microvascular invasion,lymph node metastasis,and poor differentiation maybe the risk factors of RFS for postoperative for radical resection in patients with HCCA (all P<0.10). Multivariate results suggested that low prealbumin,tumor invasion length>3 cm,microvascular invasion,lymph node metastasis,and poor differentiation were independent risk factors affecting OS and RFS in patients with HCCA after radical operation (all P<0.05). Conclusion: Preoperative prealbumin level can predict the long-term prognosis of patients with hilar cholangiocarcinoma following radical surgery.
Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Bile Duct Neoplasms/surgery , Cholangiocarcinoma/surgery , Klatskin Tumor/surgery , Lymphatic Metastasis , Prealbumin , Prognosis , Retrospective StudiesABSTRACT
Objective: To analyze the dynamic changes and influencing factors of HIV-1 DNA load in HIV-1 infected individuals under antiretroviral therapy (ART) in Dehong Dai and Jingpo autonomous prefecture, Yunnan province, and provide information support for the clinical use of HIV-1 DNA quantitative detection. Methods: The HIV infection cases in recent infection cohort from Dehong Center for Disease Control and Prevention during 2009-2018 were selected as study subjects. The dynamic curve of HIV-1 DNA load varrying with time was generated and logistic regression analysis was conducted to identify the risk factors for HIV-1 load in the recent follow up after ART and statistical analysis was performed by using SPSS 17.0. Results: Among the 113 HIV infection cases detected from the recent infection cohort, the recent HIV infection rate were 49.6%(56/113) males, sexual transmission cases and drug injection transmission cases accounted for 53.1% (60/113), 80.5% (91/113) and 19.5% (22/113), respectively. The dynamic changes curve showed that HIV-1 DNA load was relatively high (>800 copies /106 PBMCs) before ART, and droped rapidly (<400 copies /106 PBMCs) after ART for 1 year. However, HIV-1 DNA load decreased insignificantly from the second year of ART, and remained to be 269 copies/106 PBMCs after ART for 6 years. Univariable logistic regression analysis indicated that OR (95%CI) of CD8, CD4/CD8 and HIV-1 DNA load were 1.00 (1.00-1.00), 0.30 (0.09-1.05) and 1.01 (1.00-1.01), respectively. Multivariable logistic regression analysis showed that OR value of HIV-1 DNA load base was 1.00 (1.00-1.01). Conclusions: HIV-1 DNA load decreased significantly in the first year of ART, then remained stable for years. HIV-1 DNA load base was the key factor associated with the decrease of HIV-1 DNA load, the lower the HIV-1 DNA load base, the lower HIV-1 DNA load. Therefore, earlier ART can contribute to the decrease of HIV-1 DNA load.
Subject(s)
Humans , Male , China/epidemiology , DNA/therapeutic use , HIV Infections/drug therapy , HIV Seropositivity , HIV-1/genetics , Viral LoadABSTRACT
Objective: To investigate the functional changes of key gut microbiota (GM) that produce lipopolysaccharide (LPS) in atrial fibrillation (AF) patients and to explore their potential role in the pathogenesis of AF. Methods: This was a prospective cross-sectional study. Patients with AF admitted to Beijing Chaoyang Hospital of Capital Medical University were enrolled from March 2016 to December 2018. Subjects with matched genetic backgrounds undergoing physical examination during the same period were selected as controls. Clinical baseline data and fecal samples were collected. Bacterial DNA was extracted and metagenomic sequencing was performed by using Illumina Novaseq. Based on metagenomic data, the relative abundances of KEGG Orthology (KO), enzymatic genes and species that harbored enzymatic genes were acquired. The key features were selected via the least absolute shrinkage and selection operator (LASSO) analysis. The role of GM-derived LPS biosynthetic feature in the development of AF was assessed by receiver operating characteristic (ROC) curve, partial least squares structural equation modeling (PLS-SEM) and logistic regression analysis. Results: Fifty nonvalvular AF patients (mean age: 66.0 (57.0, 71.3), 32 males(64%)) were enrolled as AF group. Fifty individuals (mean age 55.0 (50.5, 57.5), 41 males(82%)) were recruited as controls. Compared with the controls, AF patients showed a marked difference in the GM genes underlying LPS-biosynthesis, including 20 potential LPS-synthesis KO, 7 LPS-biosynthesis enzymatic genes and 89 species that were assigned as taxa harbored nine LPS-enzymatic genes. LASSO regression analysis showed that 5 KO, 3 enzymatic genes and 9 species could be selected to construct the KO, enzyme and species scoring system. Genes enriched in AF group included 2 KO (K02851 and K00972), 3 enzymatic genes (LpxH, LpxC and LpxK) and 7 species (Intestinibacter bartlettii、Ruminococcus sp. JC304、Coprococcus catus、uncultured Eubacterium sp.、Eubacterium sp. CAG:251、Anaerostipes hadrus、Dorea longicatena). ROC curve analysis revealed the predictive capacity of differential GM-derived LPS signatures to distinguish AF patients in terms of above KO, enzymatic and species scores: area under curve (AUC)=0.957, 95%CI: 0.918-0.995, AUC=0.940, 95%CI 0.889-0.991, AUC=0.972, 95%CI 0.948-0.997. PLS-SEM showed that changes in lipopolysaccharide-producing bacteria could be involved in the pathogenesis of AF. The key KO mediated 35.17% of the total effect of key bacteria on AF. After incorporating the clinical factors of AF, the KO score was positively associated with the significantly increased risk of AF (OR<0.001, 95%CI:<0.001-0.021, P<0.001). Conclusion: Microbes involved in LPS synthesis are enriched in the gut of AF patients, accompanied with up-regulated LPS synthesis function by encoding the LPS-enzymatic biosynthesis gene.
Subject(s)
Aged , Humans , Male , Middle Aged , Atrial Fibrillation/complications , Cross-Sectional Studies , Gastrointestinal Microbiome , Lipopolysaccharides , Prospective StudiesABSTRACT
Objective:To investigate the effect of peer support-based narrative therapy on postoperative self-image and stigma of patients with head and neck cancer, to provide reference for clinical nursing.Methods:A total of 78 head and neck cancer patients from August 2018 to August 2020 in Fudan University Shanghai Cancer Center were divided into experimental group and control group by random digits table method, each group were 39 cases. The control group was given conventional nursing, while the experimental group implemented support-based narrative therapy on the basis of routine nursing. The intervention time was 4 weeks. The self-image and stigma of the two groups before and after intervention were assessed by Body Image Scale (BIS) and Social Impact Scale (SIS), respectively.Results:Finally, 37 cases were included in the experimental group and 38 cases in the control group. There was no significant difference in BIS, SIS dimension scores and total scores between the two groups before intervention ( P>0.05). After intervention, the emotional demension scores, behavior dimension scores, cognitive dimension scores and total scores in BIS were 4.41 ± 1.04, 1.95 ± 0.51, 3.81 ± 0.63 and 10.16 ± 2.05 in the experimental group, significantly lower than in the control group 5.08 ± 1.08, 2.82 ± 0.60, 5.42 ± 0.76 and 13.32 ± 1.93, the differences were statistically significant ( t values were 2.76-6.86, all P<0.01); the social exclusion scores, internal shame scores, social isolation scores and total stigma scores in SIS were 17.57 ± 2.67, 9.08 ± 1.55, 12.14 ± 3.73 and 46.14 ± 4.95 in the experimental group, significantly lower than in the control group 19.18 ± 3.70, 10.68 ± 1.61, 14.18 ± 3.83 and 51.68 ± 6.09, the differences were statistically significant ( t values were 2.16-4.38, all P<0.05). Conclusions:Peer support-based narrative therapy can effectively alleviate the postoperative self-image problems and stigma of patients with head and neck cancer, which is worthy of clinical application.
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Since the establishment of the biomarker-based A-T-N (Amyloid/Tau/Neurodegeneration) framework in Alzheimer's disease (AD), the diagnosis of AD has become more precise, and cerebrospinal fluid tests and positron emission tomography examinations based on this framework have become widely accepted. However, the A-T-N framework does not encompass the whole spectrum of AD pathologies, and problems with invasiveness and high cost limit the application of the above diagnostic methods aimed at the central nervous system. Therefore, we suggest the addition of an "X" to the A-T-N framework and a focus on peripheral biomarkers in the diagnosis of AD. In this review, we retrospectively describe the recent progress in biomarkers based on the A-T-N-X framework, analyze the problems, and present our perspectives on the diagnosis of AD.
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Deficits in the clearance of amyloid β protein (Aβ) by the peripheral system play a critical role in the pathogenesis of sporadic Alzheimer's disease (AD). Impaired uptake of Aβ by dysfunctional monocytes is deemed to be one of the major mechanisms underlying deficient peripheral Aβ clearance in AD. In the current study, flow cytometry and biochemical and behavioral techniques were applied to investigate the effects of polysaccharide krestin (PSK) on AD-related pathology in vitro and in vivo. We found that PSK, widely used in therapy for various cancers, has the potential to enhance Aβ uptake and intracellular processing by human monocytes in vitro. After administration of PSK by intraperitoneal injection, APP/PS1 mice performed better in behavioral tests, along with reduced Aβ deposition, neuroinflammation, neuronal loss, and tau hyperphosphorylation. These results suggest that PSK holds promise as a preventive agent for AD by strengthening the Aβ clearance by blood monocytes and alleviating AD-like pathology.
Subject(s)
Animals , Mice , Alzheimer Disease/pathology , Amyloid beta-Peptides/metabolism , Amyloid beta-Protein Precursor/metabolism , Cognition , Disease Models, Animal , Mice, Transgenic , Monocytes/pathology , Polysaccharides/therapeutic use , ProteoglycansABSTRACT
OBJECTIVE@#To detect the genetic variant of a child with cleidocranial dysplasia (CCD) and to find out the causation of the illness.@*METHODS@#Gene variant was identified by the second generation targeted sequencing and Sanger sequencing.@*RESULTS@#The gene sequencing revealed that the RUNX2 gene had c.196C>T(p.Glu66*) nonsense variant, which was predicted to be a pathogenic variant according to the ACMG guidelines(PVS1+PS2).@*CONCLUSION@#The variant of c.196C > T in the RUNX2 gene may be the cause of the child with CCD, and the novel variant enriches the RUNX2 gene variant spectrum.
Subject(s)
Child , Humans , Asian People/genetics , China , Cleidocranial Dysplasia/genetics , Core Binding Factor Alpha 1 Subunit/genetics , MutationABSTRACT
In recent years, the MYB-related gene family has been found pivotal in plant growth and development. MYB-related gene family in Angelica dahurica var. formosana was systematically investigated based on "Chuanzhi No. 2" through transcriptome database search and bioinformatics and the temporal and spatial expression patterns were analyzed through real-time fluorescence-based quantitative polymerase chain reaction(PCR). The results showed that 122 MYB-related proteins family were identified, mainly including the unstable hydrophilic proteins with good thermal stability. Most of the proteins were located in nuclei. The majority of the proteins had the structures of random coil and α-helix. Five MYB-related proteins family of A. dahurica var. formosana had membrane-binding domains. The conserved domain analysis of MYB-related proteins family of A. dahurica var. formosana showed that the MYB domains of genes in five subgroups, similar to 2 R-, 3 R-, and 4 R-MYB proteins, contained three evenly distributed Trp(W) residues in the MYB repeat sequence. The phylogenetic analysis of MYB-related proteins family in A. dahurica var. formosana and Arabidopsis thaliana showed that the MYB-related members were unevenly distributed in five subgroups, and A. thaliana and A. dahurica var. formosana had almost the same number of genes in the CCA1-like subgroup. There were differences in the number, type, and distribution of motifs contained in 122 encoded proteins. Transcription factors with similar branches had similar domains and motifs. The expression pattern analysis showed that the transcription factors AdMYB53, AdMYB83, and AdMYB89 responded to hormones to varying degrees, and they were highly expressed in leaves and responded quickly in roots. This study lays a foundation for further investigating the function of MYB-related transcription factors of A. dahurica var. formosana and solving the corresponding biological problems such as bolting early.
Subject(s)
Animals , Angelica/chemistry , Computational Biology , Gastropoda , Phylogeny , Plant Leaves , Plant Proteins/genetics , Transcription Factors/geneticsABSTRACT
ObjectiveTo investigate the changes of surface electromyography (sEMG) of the flexors and extensors of the affected fingers after manual digitorum sensory stimulation (MDSS) in the hemiplegic patients after stroke. MethodsFrom April to August, 2020, 50 stroke patients in Department of Rehabilitation Medicine, the Second Hospital of Anhui Medical University accepted MDSS on the nail beds and the third knuckles of affected fingers, until the fingers extended actively. The tension of affected flexor pollicis brevis, flexor digitorum superficialis and extensor digitorum were assessed with modified Ashworth Scale (MAS) before and immediately after stimulation; while the root mean square (RMS) of sEMG of bilateral flexor pollicis brevis, flexor digitorum superficialis and extensor digitorum were recorded. ResultsThe MAS score of all the muscles decreased after stimulation (|Z| > 2.699, P < 0.01), while the RMS of affected extensor digitorum increased (t = -2.069, P < 0.05). Compared with the unaffected ones, RMS of affected flexor pollicis brevis and extensor digitorum decreased before and after stimulation (t > 2.450, P < 0.05). ConclusionMDSS may immediately relieve the spasm of flexors of hemiplegic fingers after stroke, which associates with the promoting muscle strength of the extensors.
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@#AIM: To investigate the feasibility of artificial intelligence(AI)in reading retinal optical coherence tomography(OCT)images of age-related macular degeneration(ARMD)in clinic. <p>METHODS: From November 2019 to November 2021, a total of 1 579 OCT images were collected in the outpatient department, and the imaging results of ophthalmologist and AI were collected. The Kappa consistency test of classification results without ARMD and with ARMD were analyzed. <p>RESULTS: The Kappa coefficients of the judgement of ophthalmologists about ARMD was 0.934. The Kappa coefficients between AI and ophthalmologists was 0.738. The sensitivity, specificity and area under curve(AUC)of AI to ARMD were 73.08%, 95.07% and 0.841 respectively. <p>CONCLUSION: AI has a high consistency with ophthalmologists in the recognition of ARMD based on OCT images, which is suitable for primary hospitals to complete the early screening and early referral of ARMD.
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Objective:To analyze the clinical characteristics and molecular mechanisms of 5 cases of hypoparathyroidism caused by GATA3 gene mutation.Methods:A total of 5 childhood-onset hypoparathyroidism patients with GATA3 mutation were identified from 198 hypoparathyroidism (aged ≤18 years) from 1975 to 2021 in Peking Union Medical College Hospital. Clinical data and biochemical indices of the 5 patients were collected and analyzed retrospectively. Genetic screening was conducted by targeted next-generation sequencing (T-NGS), and bioinformatics analysis was performed to analyze the underline mechanisms.Results:The medium onset age of hypoparathyroidism of the 5 patients was 0.5 (0.1, 1.3) years old, and the time duration from onset to confirmed diagnosis of hypoparathyroidism and hypoparathyroidism- deafness-renal dysplasia syndrome was (7.0±5.2) years and (15.0±5.4) years, respectively. The clinical manifestations included carpopedal spasm accompanied by seizures (5 cases), basal ganglia calcification (5 cases), cataract (1 case), deafness (4 cases), and renal malformations or absence (2 cases). The blood calcium and blood parathormone(PTH) before treatment was (1.65±0.31) mmol/L and (4.64±2.63) ng/L, respectively. The 5 patients carried different heterozygous mutations in GATA3 gene, which caused nonsense mutations, frameshift mutations and splice site mutations, respectively. All the GATA3 gene mutations of the 5 patients are classified as pathogenic or likely pathogenic by the Clin Var database and American College of Medical Genetics and Genomics(ACMG).Conclusions:Attention should be paid to genetic diseases in patients with childhood-onset hypoparathyroidism. The possibility of hypoparathyroidism-deafness-renal dysplasia syndrome should be considered in hypoparathyroidism patients with hearing loss or renal dysplasia. GATA3 gene screening is highly recommended for the confirmation of the diagnosis.
ABSTRACT
Objective:To analyze the clinical effect of navigation-assisted cosmetic incision for reduction and internal fixation in treating unilateral B-type zygomatic fracture.Methods:A retrospective cohort study was performed on clinical data of 35 patients with unilateral type B zygomatic fracture treated from January 2018 to December 2019 in First Affiliated Hospital of Fujian Medical University. There were 20 males and 15 females at age range of 5-62 years [(38.7±11.3)years]. Navigation-assisted cosmetic incision for reduction and internal fixation was performed for 17 patients (navigation group), and empirical incision to reduction and internal fixation was performed for 18 patients (convention group). The length of bony zygomatic process (zygomatic process) and width of zygomatic temporal point (frontal width) of the bilateral zygomatic bone were measured on the horizontal axis of CT at 1 week after operation. The absolute values of the difference of bony zygomatic process degree and frontal bony width between affected side and the healthy side were compared between the two groups. The patients′ satisfaction and occurrence of complications such as lower eyelid ectropion, incision infection and facial nerve injury were compared between the two groups at half a year after operation.Results:All patients were followed up for 6-24 months [(9.3±1.2)months]. The absolute difference of bony zygomatic process was 0.60(0.25, 0.85) mm in navigation group, and was 0.75 (0.20, 1.98)mm in convention group ( P>0.05). The absolute difference of frontal bony width was (0.37±0.11)mm in navigation group, and was (2.47±0.63)mm in convention group ( P<0.01). Satisfaction rates by both objective evaluation and subjective evaluation in navigation group were better than that in convention group at half a year after operation (both P<0.05). Navigation group showed lower eyelid ectropion in 1 patient and incision infection in 1 patient. Convention group showed facial nerve injury in 1 patient and incision infection in 2 patients. There was no significant difference in the incidence of complications between navigation group [12%(2/17)] and conventional group [17%(3/18)] ( P>0.05). Conclusion:For unilateral type B zygomatic fracture, navigation-assisted cosmetic incision for reduction and internal fixation can more accurately restore the frontal width, and improve satisfaction rate as compared with empirical reduction and internal fixation.