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Excavating the quantitative trait locus (QTL) associated with rice cooking quality, analyzing candidate genes, and improving cooking quality-associated traits of rice varieties by genetic breeding can effectively improve the taste of rice. In this study, we used the indica rice HZ, the japonica rice Nekken2 and 120 recombinant inbred lines (RILs) populations constructed from them as experimental materials to measure the gelatinization temperature (GT), gel consistency (GC) and amylose content (AC) of rice at the maturity stage. We combined the high-density genetic map for QTL mapping. A total of 26 QTLs associated with rice cooking quality (1 QTL associated with GT, 13 QTLs associated with GC, and 12 QTLs associated with AC) were detected, among which the highest likelihood of odd (LOD) value reached 30.24. The expression levels of candidate genes in the localization interval were analyzed by quantitative real-time polymerase chain reaction (qRT-PCR), and it was found that the expression levels of six genes were significantly different from that in parents. It was speculated that the high expression of LOC_Os04g20270 and LOC_Os11g40100 may greatly increase the GC of rice, while the high expression of LOC_Os01g04920 and LOC_Os02g17500 and the low expression of LOC_Os03g02650 and LOC_Os05g25840 may reduce the AC. The results lay a molecular foundation for the cultivation of new high-quality rice varieties, and provide important genetic resources for revealing the molecular regulation mechanism of rice cooking quality.
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Locos de Características Quantitativas , Oryza/genética , Melhoramento Vegetal , Culinária , Estudos de Associação GenéticaRESUMO
BACKGROUND:Ankylosing spondylitis is a chronic inflammatory disease with chronic rheumatic immunity.Soft tissue ossification and fusion and spinal stiffness can cause biomechanical changes. OBJECTIVE:To reconstruct the lumbar-sacral intervertebral disc in ankylosing spondylitis patients with lumbar kyphosis by finite element analysis,and to study the range of motion of each segment of T11-S1 and the biomechanical characteristics of annulus fibrosus and nucleus pulposus. METHODS:The imaging data were obtained from an ankylosing spondylitis patient with lumbar kyphosis.The original CT image data of continuously scanned spine were imported into Mimics 21.0 in DICOM format,and T11-S1 was reconstructed respectively.The established model was imported into 3-Matic software in the format of"Stl"to reconstruct the intervertebral disc,and the fibrous intervertebral disc model was obtained.The improved model was further imported into Hypermesh software,and the vertebra,nucleus pulposus,annulus fibrosus and ligament were mesh-divided.After the material properties were given,the model was imported into ABAQUS software to observe the range of motion of each vertebral body in seven different working conditions of T11-S1,and analyze the biomechanical characteristics of each segment of annulus fibrosus and nucleus pulposus. RESULTS AND CONCLUSION:(1)The range of motion of L1 vertebrae was higher than that of other vertebrae under six different working conditions:extension,forward flexion,rotation(left and right),and lateral flexion(left and right).The maximum range of motion was 2.18° during L1 vertebral flexion,and the minimum range of motion was 0.12° during L5 vertebral extension.(2)The annular fiber flexion at L2-L3 segments was greater than the extension(P<0.05),and the annular fiber flexion at L3-L4 and L4-L5 segments was less than the extension(P<0.05).The left rotation of L1-L2 annular fibers was greater than the right rotation(P<0.05).The left flexion of the annulus was greater than the right flexion in L1-L2,L2-L3,L3-L4,L4-L5 and L5-S1 segments(P<0.05).(3)The nucleus pulposus stresses of T11-L12,L1-L2,L2-L3,L3-L4 and L4-L5 segments in forward flexion were greater than in extension(P<0.05).The left rotation of T12-L1 and L3-L4 segments was smaller than the right rotation(P<0.05),and that of T11-T12,L1-L2,and L2-L3 segments was larger than the right rotation(P<0.05).The left flexion was larger than the right flexion in the T11-S1 segment.(4)It is concluded that in ankylosing spondylitis patients with lumbar kyphosis,the minimum range of motion of the vertebral body is located at the L5 vertebral body in extension.To prevent fractures,it is recommended to avoid exercise in the extension position.During the onset of lumbar kyphosis in patients with ankylosing spondylitis,the maximum stress of the annulus fibrosus and nucleus pulposus is located in the L1-L2 segment,which is fixed and will not alter with the change of body position.The late surgical treatment and correction of deformity should focus on releasing the pressure of the annulus fibrosus and nucleus pulposus in this segment to avoid the rupture of the annulus fibrosus and the injury of the nucleus pulposus.
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BACKGROUND:Ankylosing spondylitis is a progressive inflammation of spinal stiffness deformity caused by tissue ossification and fibrosis.The posture of ankylosing spondylitis patients is abnormal and their activities are limited that minor injuries can lead to thoracolumbar fractures.Traditional medical image observation limits doctors'preoperative decision planning and postoperative disease prevention for ankylosing spondylitis treatment. OBJECTIVE:Based on the spinal model of ankylosing spondylitis patients before and after posterior spinal cancellous ossification osteotomy("Y"osteotomy for short),to explore the biomechanical changes of"Y"osteotomy and fixation in the treatment of ankylosing spondylitis. METHODS:Based on the preoperative and postoperative CT images of an ankylosing spondylitis patient who went to the Second Affiliated Hospital of Inner Mongolia Medical University,a three-dimensional spine model(T11-S1)before and after"Y"osteotomy(L3 osteotomy)was reconstructed in Mimics 19.0 software.A 7.5 Nm torque was applied to the top of T11 vertebral body to simulate the movement of the spine under six conditions:flexion,extension,left bending,right bending,left rotation and right rotation.Finally,the range of motion of each vertebral body,the stress of each intervertebral disc,and the stress of the screw rod system were simulated. RESULTS AND CONCLUSION:(1)After"Y"type osteotomy and posterior fixation,the range of motion of all vertebrae in the spine decreased,and the loss rate of upper vertebrae was large(L1:77.95%).(2)The maximum stress of the spinal intervertebral disc before operation occurred at the L1-L2 segment(0.55 MPa),and the maximum stress of the spinal intervertebral disc after operation occurred at the T11-T12 segment(0.50 MPa),and the stress of intervertebral disc below T12 was far less than that before operation.(3)The maximum stress of the screw rod system(166.67 MPa)occurred in the upper and middle segments of the rod body and the root of the pedicle screw.(4)In conclusion,the"Y"type posterior fixation operation enhances the stability of the spine and reduces the range of motion of the spine.The vertebral body decompression of the fixed segment is great and the stress-shielding phenomenon of the lower vertebral body is significant.The stiffness of the rod body and the stress concentration area of the pedicle screw should be strengthened to avoid the fracture of the rod caused by stress fatigue.
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BACKGROUND:The study of the physical properties of scaffolds has always been a hot topic in the field of tissue engineering research.However,for vascular stimulating scaffolds,in addition to meeting the basic performance of the scaffold,other methods are also needed to promote the regeneration of blood vessels within the scaffold,in order to achieve the ultimate goal of repairing bone tissue. OBJECTIVE:A visualization analysis was carried out on the literature published in and outside China on scaffold stimulation for bone tissue engineering,to explore the research hotspots and research status in this field,and to provide a reference for subsequent studies. METHODS:Using the CNKI database and Web of Science core database as retrieval databases,the relevant literature on vascular scaffolds for bone tissue engineering was retrieved.The literature that did not conform to the research object was removed.The obtained data were imported into CiteSpace 6.1.R2 software.Visualization analysis was performed on authors,national institutions,and keywords in the research field. RESULTS AND CONCLUSION:(1)China,the United States,and Germany were the top three countries with the most articles on scaffold stimulation for bone tissue engineering.(2)The top 3 institutions in the CNKI database were Southern Medical University,Huazhong University of Science and Technology,and Donghua University.In the core database of Web of Science,Shanghai Jiao Tong University,Sichuan University and Chinese Academy of Sciences ranked the top 3 in terms of the number of institutional publications.(3)The top 3 keywords in the CNKI database were"tissue engineering,vascularization,angiogenesis".The top 3 keywords in the Web of Science core database were"mesenchymal stem cell,scaffold,vascularization".(4)Through the analysis of co-citation and highly cited references,the main concerns were as follows:vascularization strategies:scaffold design,angiogenic factor delivery,in vitro co-culture,and in vivo pre-vascularization.Technology:3D printing,electrospinning,vascular transplantation,vascular fusion.Mechanisms:immune regulation and macrophages,drug/growth factor delivery,the relationship between endothelial cells and osteoblasts,the paracrine relationship between bone cells and endothelial cells,signaling molecular pathways,angiogenesis,and anti-angiogenesis molecules.(5)The researches concerning vascular stimulating scaffolds in bone tissue engineering in and outside China attach great importance to the application of stem cells and 3D printing technology.Current research focuses on biological 3D printing technology,scaffold modification methods,and the development and application of intelligent biomaterials based on bone repair mechanisms.
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@#Objective To explore the application of painless diagnosis and treatment technology in children's peripherally inserted central catheter(PICC)guided by ultrasound.Methods Totally 82 children who planned to undergo PICC in the hospital from January 2021 to January 2023 were selected and randomly divided into a control group and an observation group using a random number table method,with 41 cases in each group;The control group underwent conventional ultrasound guided PICC catheterization,while the observation group underwent painless diagnostic and therapeutic techniques using ultrasound guided PICC catheterization;Compare the success rate of catheterization,completion time of catheterization,degree of pain in the child pain[children's pain behavior scale(FLACC)],tolerance[Houpt behavior scale(HBS)],compliance[Frankl scale(FCS)],and family satisfaction between the two groups.Results The success rate of catheterization in the observation group was higher than that in the control group,and the catheterization time was shorter than that in the control group,with a statistically significant difference(P<0.05).The FLACC score of the observation group was lower than that of the control group,while the HBS score and FCS score were higher than those of the control group,with a statistically significant difference(P<0.05);The total satisfaction of family members in the observation group was higher than that in the control group,and the difference was statistically significant(P<0.05).Conclusion The use of painless diagnosis and treatment technology in ultrasound-guided PICC catheterization in children can improve the success rate of catheterization,shorten the catheterization time,reduce the degree of pain in children,enhance tolerance and compliance,and improve family satisfaction.
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Alzheimer’s disease (AD) is a central neurodegenerative disease characterized by progressive cognitive dysfunction and behavioral impairment, and there is a lack of effective drugs to treat AD clinically. Existing medications for the treatment of AD, such as Tacrine, Donepezil, Rivastigmine, and Aducanumab, only serve to delay symptoms and but not cure disease. To add insult to injury, these medications are associated with very serious adverse effects. Therefore, it is urgent to explore effective therapeutic drugs for AD. Recently, studies have shown that a variety of enzyme inhibitors, such as cholinesterase inhibitors, monoamine oxidase (MAO)inhibitors, secretase inhibitors, can ameliorate cholinergic system dysfunction, Aβ production and deposition, Tau protein hyperphosphorylation, oxidative stress damage, and the decline of synaptic plasticity, thereby improving AD symptoms and cognitive function. Some plant extracts from natural sources, such as Umbelliferone, Aaptamine, Medha Plus, have the ability to inhibit cholinesterase activity and act to improve learning and cognition. Isochromanone derivatives incorporating the donepezil pharmacophore bind to the catalytic active site (CAS) and peripheral anionic site (PAS) sites of acetylcholinesterase (AChE), which can inhibit AChE activity and ameliorate cholinergic system disorders. A compound called Rosmarinic acid which is found in the Lamiaceae can inhibit monoamine oxidase, increase monoamine levels in the brain, and reduce Aβ deposition. Compounds obtained by hybridization of coumarin derivatives and hydroxypyridinones can inhibit MAO-B activity and attenuate oxidative stress damage. Quinoline derivatives which inhibit the activation of AChE and MAO-B can reduce Aβ burden and promote learning and memory of mice. The compound derived from the combination of propargyl and tacrine retains the inhibitory capacity of tacrine towards cholinesterase, and also inhibits the activity of MAO by binding to the FAD cofactor of monoamine oxidase. A series of hybrids, obtained by an amide linker of chromone in combine with the benzylpiperidine moieties of donepezil, have a favorable safety profile of both cholinesterase and monoamine oxidase inhibitory activity. Single domain antibodies (such as AAV-VHH) targeted the inhibition of BACE1 can reduce Aβ production and deposition as well as the levels of inflammatory cells, which ultimately improve synaptic plasticity. 3-O-trans-p-coumaroyl maslinic acid from the extract of Ligustrum lucidum can specifically inhibit the activity of γ-secretase, thereby rescuing the long-term potentiation and enhancing synaptic plasticity in APP/PS1 mice. Inhibiting γ-secretase activity which leads to the decline of inflammatory factors (such as IFN-γ, IL-8) not only directly improves the pathology of AD, but also reduces Aβ production. Melatonin reduces the transcriptional expression of GSK-3β mRNA, thereby decreasing the levels of GSK-3β and reducing the phosphorylation induced by GSK-3β. Hydrogen sulfide can inhibitGSK-3β activity via sulfhydration of the Cys218 site of GSK-3β, resulting in the suppression of Tau protein hyperphosphorylation, which ameliorate the motor deficits and cognitive impairment in mice with AD. This article reviews enzyme inhibitors and conformational optimization of enzyme inhibitors targeting the regulation of cholinesterase, monoamine oxidase, secretase, and GSK-3β. We are hoping to provide a comprehensive overview of drug development in the enzyme inhibitors, which may be useful in treating AD.
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Fluorescence anisotropy(FA)analysis has many advantages such as no requirement of separation,high throughput and real-time detection,and thus has been widely used in many fields,including biochemical analysis,food safety detection,environmental monitoring,etc.However,due to the small volume or mass of the target,its combination with the fluorescence probe cannot produce significant signal change.To solve this issue,researchers often use nanomaterials to enhance the mass or volume of fluorophore to improve the sensitivity.Nevertheless,this FA amplification strategy also has some disadvantages.Firstly,nanomaterials are easy to quench fluorescence.As a result,the FA value is easily influenced by light scattering,which reduces the detection accuracy.Secondly,fluorescent probes in most methods require complex modification steps.Therefore,it is necessary to develop new FA probes that do not require the amplification of volume and mass or modification.As a new kind of nanomaterials,luminescent metal-organic framework(MOF)has a large volume(or mass)and strong fluorescence emission.It does not require additional signal amplification materials.As a consequence,it can be used as a potential FA probe.This study successfully synthesized a lanthanide metal organic framework(Ce-TCPP MOF)using cerium ion(Ce3+)as the central ion and 5,10,15,20-tetra(4-carboxylphenyl)porphyrin(H2TCPP)as the ligand through microwave assisted method,and used it as a novel unmodified FA probe to detect phosphate ions(Pi).In the absence of Pi,Ce-TCPP MOF had a significant FA value(r).After addition of Pi,Pi reacted with Ce3+in MOF and destroyed the structure of MOF into the small pieces,resulting in a decrease in r.The experimental results indicated that with the increase of Pi concentration,the change of the r of Ce-TCPP MOF(Δr)gradually increased.The Δr and Pi concentration showed a good linear relationship within the range of 0.5-3.5 μmol/L(0.016-0.108 mg/L).The limit of detection(LOD,3σ/k)was 0.41 μmol/L.The concentration of Pi in the Jialing River water detected by this method was about 0.078 mg/L,and the Pi value detected by ammonium molybdate spectrophotometry was about 0.080 mg/L.The two detection results were consistent with each other,and the detection results also meet the ClassⅡwater quality standard,proving that this method could be used for the detection of Pi in complex water bodies.
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Objective To investigate the impacts of circular RNA RERE(circRERE)on proliferation,migration and invasion of human multiple myeloma(MM)cell lines by regulating microRNA(miR)-128-3p/serine/threo-nine protein kinase(WEE1)axis.Methods Normal plasma cells(nPCs)isolated from peripheral blood of healthy subjects and human MM cell lines(U266,RPMI-8226,NCI-H929,LP-1)were cultured.The expressions of circRERE and miR-128-3p were detected by RT-qPCR.The expression of WEE1 was detected by Western blot.After transfection,RPMI-8226 cells were divided into control group(without transfection),sh-circRERE group,sh-NC group,miR-128-3p inhibitor group,inhibitor-NC group,sh-circRERE+inhibitor-NC group and sh-circRERE+miR-128-3p inhibitor group.MTT assay and 5-ethynyl-2′-deoxyuridine(EdU)im-munofluorescence staining microscopy were used to detect the proliferation.Migration and invasion were exam-ined by scratch healing experiment as well as Transwell chamber assay.The targeting relationship between miR-128-3p and circRERE or WEE1 was verified though dual-luciferase reporter gene assay.Results Com-pared with nPCs,the expressions of circRERE and WEE1 in MM cells(RPMI-8226,U266,NCI-H929,LP-1)were increased,and the expression of miR-128-3p was decreased(P<0.05).Compared with the con-trol group,the proliferation rate,proportion of EdU positive cells,the healing rate of the scratch trauma and the number of invasion of the RPMI-8226 cells in sh-circRERE group were decreased(P<0.05).However,miR-128-3p inhibitor group showed an opposite result and the difference was statistically significant(P<0.05).miR-128-3p inhibitor significantly inhibited the effects of sh-circRERE on the proliferation,mi-gration and invasion of RPMI-8226 cells(P<0.05).Dual luciferase reporter gene experiments showed that circRERE/miR-128-3p and miR-128-3p/WEE1 had a targeting relationship.Conclusions CircRERE may promote proliferation,migration and invasion of RPMI-8226 cells,potentially with a mechanism of regulating miR-128-3p/WEE1 axis.
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OBJECTIVE To optimize the extraction technology for the raw drugs of Sanse powder gel paste. METHODS SD rats were divided into blank group, model group, traditional technology group, water extraction group and ethanol extraction group, with 5 rats in each group. Anterior cruciate ligament transection was used to construct knee osteoarthritis model, and the pharmacodynamic effects of different extraction methods on arthritic rats were investigated. Analgesic experiments were conducted using cold and hot pain thresholds and pain mediators calcitonin gene-related peptide (CGRP), cyclooxygenase-2 (COX-2), substance P (SP), and prostaglandin E2 (PGE2) contents as indicators. HE staining was performed on the synovial membrane of rats to observe the degree of synovial cell proliferation, inflammatory infiltration and vascular invasion, and anti-inflammatory experiments were conducted using protein and mRNA expressions of interleukin-1β (IL-1β), tumor necrosis factor-α (TNF-α) and IL-6 as indicators. The analgesic and anti-inflammatory effects were compared among those groups. In the orthogonal test, ethanol dosage, extraction time and extraction times were used as evaluation factors, and the contents of casticin, strychnine and toxiferine were taken as evaluation indicators; comprehensive score was calculated. The validation experiments were carried out after optimizing the extraction technology of the raw drugs of Sanse powder gel paste. RESULTS Compared with the model group, the cold and heat pain thresholds of drug administration groups (except for the traditional technology group) were all increased significantly (P<0.05), while the contents of pain (No.Y2021rc02) mediators CGRP, COX-2, SP and PGE2 were all decreased significantly (P<0.05). HE staining showed that inflammatory cell infiltration, fibrosis and collagen deposition were 炎。E-mail:liuzixiu3221@126.com decreased in the administration groups; a small amount of capillary proliferation could be found; the protein and mRNA expressions of inflammatory factors such as IL-1β, IL-6 and TNF-α were decreased significantly in synovial tissue of rats in administration groups (P<0.05). Compared with the traditional technology group, most indicators of the ethanol extraction group were significantly reduced (P<0.05), and only heat pain threshold and mRNA expression of IL-6 in rats were decreased significantly in the water extraction group (P<0.05). The optimal extraction technology of the raw drugs of Sanse powder gel paste included suitable dose of Sanse powder, 8-fold 55% ethanol, heating reflux extraction for 90 minutes, extracting twice. The results of 3 times of verification experiments showed that the average contents of casticin, strychnine and toxiferine were 0.007%, 0.092%, and 0.214%, respectively; RSD were all less than 5%. CONCLUSIONS The optimized extraction technology for the raw drugs of Sanse powder gel paste is stable and feasible, which can improve the efficacy of the preparation.
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OBJECTIVE@#To explore clinical efficacy of dorsal plate assisted fixation of dorsal lunate fossa fracture block of distal radius.@*METHODS@#From January 2019 to January 2022, 30 patients were treated with dorsal plate assisted fixation of dorsal lunate fossa fracture of distal radius, including 13 males and 17 females, aged from 42 to 68 years old with an average of (48.7±5.6) years old;According to Doi fracture classification, 24 patients were type 3 blocks and 6 patients were type 4 blocks. The degree of palmar angle of anterior and posterior distal radius was fixed by dorsal steel plate during operation. Fracture healing and functional recovery of wrist were observed after operation. Functional evaluation was performed by Gartland and Werley scoring system at 12 months after operation.@*RESULTS@#All patients were followed up from 12 to 13 months with an average of (11.3±0.9) months. All fractures healed for 4 to 5 months with an average of(4.7±0.8) months. Median palpal inclination of anterior and posterior distal radius fixed by dorsal plate was 5.30°(4.85°, 6.03°), 12.45°(11.98°, 13.43°) respectively, and had statistical difference( P<0.01). Gartland and Werley scores was (1.1±0.4) at 12 months afteropertaion, and 27 patients got excellent result and 3 good.@*CONCLUSION@#Dorsal plate assisted fixation of dorsal lunate fossa fractures is beneficial to reduction and stabilization of displaced dorsal fractures and restoration of palmar inclination.
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Feminino , Masculino , Humanos , Adulto , Pessoa de Meia-Idade , Idoso , Rádio (Anatomia)/cirurgia , Osso Semilunar/cirurgia , Extremidade Superior , Articulação do Punho , Punho , Fraturas ÓsseasRESUMO
Objective To systematically evaluate relevant guidelines on calories and 3 nutrients allocations during pregnancy in patients with gestational diabetes mellitus,and to compare the similarities and differences in recommendations between these guidelines.Methods Domestic and foreign guideline networks,websites of specialist associations related to diabetes,obstetrics and gynecology,as well as databases,were systematically searched from January 2010 to June 2022.There were 2 appraisers who used the Appraisal of Guidelines for Research &Evaluation Ⅱ to evaluate the quality of guidelines and then used the content analysis method to synthesize the recommendations of each guideline and compare similarities and differences.Results This study included 18 guidelines with fair overall quality(10 with grade A,2 with grade B and 6 with grade C).The guidelines provided recommendations in 5 aspects of meal allocation,calories,carbohydrates,proteins,and fats,totaling 57 recommendations.While the recommendations for meal allocation were consistent across guidelines,there were significant differences in the recommendations for calories and the 3 major nutrients.Conclusion The recommendations regarding the distribution of calories and the 3 major nutrients mostly rely on expert consensuses,with low-quality evidence but mostly strong recommendations.These guidelines exhibit significant variations from one to another.Consequently,future studies with higher quality on the distribution of calories and 3 nutrients should be conducted,and high-quality evidence-based nutrition guidelines for gestational diabetes should be developed in China.
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AIM: To explore the effects of anti-vascular endothelial growth factor(VEGF)agents(Conbercept)before pars plana vitrectomy(PPV)on inflammatory cytokine levels of patients with proliferative diabetic retinopathy(PDR).METHODS: A total of 49 patients(49 eyes)who diagnosed with PDR at the First Affiliated Hospital with Nanjing Medical University from June 2017 to January 2018 were recruited and randomly divided into two groups. A total of 25 cases(25 eyes)who did not receive intravitreal injection before PPV were included in no-intravitreal injection of Conbercept(IVC)group, and 24 cases(24 eyes)who received IVC 5~7d before PPV were included in IVC group. The vitreous samples were collected from all the patients at the start of PPV. Levels of VEGF-A, monocyte chemotactic protein-1(MCP-1)and inflammatory cytokines in the vitreous humor were measured using Luminex technology.RESULTS: Compared with the no-IVC group, the level of VEGF-A decreased significantly(P<0.001), the concentration of IL-6(P=0.004), IL-8(P=0.002), IL-18(P=0.04)and TNF-α(P=0.03)increased remarkably in the IVC group. The other inflammatory cytokines in the vitreous humor showed no significant difference between the IVC and no-IVC groups.CONCLUSION: IVC before PPV can effectively decrease the concentration of VEGF-A, but had limited influence on the level of inflammatory cytokines in the vitreous humor of patients with PDR.
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Objective: To investigate the clinical presentation and genetic characteristics of malignant infantile osteopetrosis. Methods: This was a retrospective case study. Thirty-seven children with malignant infantile osteopetrosis admitted into Beijing Children's Hospital from January 2013 to September 2022 were enrolled in this study. According to the gene mutations, the patients were divided into the CLCN7 group and the TCIRG1 group. Clinical characteristics, laboratory tests, and prognosis were compared between two groups. Wilcoxon test or Fisher exact test were used in inter-group comparison. The survival rate was estimated with the Kaplan-Meier method and the Log-Rank test was used to compare the difference in survival between groups. Results: Among the 37 cases, there were 22 males and 15 females. The age of diagnosis was 0.5 (0.2, 1.0) year. There were 13 patients (35%) and 24 patients (65%) with mutations in CLCN7 and TCIRGI gene respectively. Patients in the CLCN7 group had an older age of diagnosis than those in the TCIRGI group (1.2 (0.4, 3.6) vs. 0.4 (0.2, 0.6) years, Z=-2.60, P=0.008). The levels of serum phosphorus (1.7 (1.3, 1.8) vs. 1.1 (0.8, 1.6) mmol/L, Z=-2.59, P=0.010), creatine kinase isoenzyme (CK-MB) (457 (143, 610) vs. 56 (37, 82) U/L, Z=-3.38, P=0.001) and the level of neutrophils (14.0 (9.9, 18.1) vs. 9.2 (6.7, 11.1) ×109/L, Z=-2.07, P=0.039) at diagnosis were higher in the CLCN7 group than that in the TCIRG1 group. However, the level of D-dimer in the CLCN7 group was lower than that in the TCIRGI group (2.7 (1.0, 3.1) vs. 6.3 (2.5, 9.7) μg/L, Z=2.83, P=0.005). After hematopoietic stem cell transplantation, there was no significant difference in 5-year overall survival rate between the two groups (92.3%±7.4% vs. 83.3%±7.6%, χ²=0.56, P=0.456). Conclusions: TCIRGI gene mutations are more common in children with osteopetrosis. Children with TCIRGI gene mutations have younger age, lower levels of phosphorus, CK-MB, and neutrophils and higher level of D-dimer at the onset. After hematopoietic stem cell transplantation, patients with CLCN7 or TCIRGI gene mutations have similar prognosis.
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Criança , Masculino , Feminino , Humanos , Osteopetrose/terapia , Estudos Retrospectivos , Prognóstico , Genes Recessivos , Fósforo , Canais de Cloreto/genética , ATPases Vacuolares Próton-Translocadoras/genéticaRESUMO
Aim To determine the effect of histamine H
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AIM: To explore the role of clinical pharmacist in the treatment of patients with transjugular intrahepatic portosystemic shunt. METHODS: Clinical pharmacist participated in the treatment of a patient with repeated oral bleeding after transjugular intrahepatic portal shunt followed treatment with multiple antithrombotic drugs, which assisted the physician to diagnose and adjust the antithrombotic treatment plan as well as provided the patient with whole-process pharmaceutical care and online management. RESULTS: Based on the inquiry about the patient's past and current medical history and medication consumption, the pharmacist considered that there was weak correlation between oral hemorrhage and antithrombotic drugs and advised for dentist inspection. Thereafter, the patient was diagnosed with chronic gingivitis. The dosage of warfarin was adjusted, and the pharmacists managed it online after discharge to achieve stable INR of the patient. In the later online follow-up, an abnormal increase of INR was encountered, By asking about the history of medication, it was considered that the increase in INR was related to taking amoxicillin capsules. Therefore, the pharmacist suggested to stop amoxicillin capsule and to gradually adjust the dose of warfarin to the original level to improve the treatment. CONCLUSION: The involvement of clinical pharmacists in clinical treatment facilitates comprehensive pharmaceutical care of patients, which plays a positive role in the efficacy and safety of medication therapy.
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Objective: To summarize the characteristics of patients with newly diagnosed multiple myeloma (NDMM) admitted at Ruijin Hospital affiliated to Shanghai Jiaotong University School of Medicine. We compared the clinical characteristics and prognoses among patients with non-extramedullary disease (EMD), bone-related extramedullary (EM-B) disease, and extraosseous extramedullary (EM-E) disease and further explored the effects of autologous hematopoietic stem cell transplantation (ASCT) for EMD. Methods: From January 2015 to January 2022, data of 114 patients (22%) with EMD out of 515 patients with NDMM were retrospectively analyzed; 91 (18%) and 23 (4%) patients comprised the EM-B and EM-E groups, respectively. The clinical characteristics of patients in all groups were compared with the Chi-square test. Progression-free survival (PFS) and overall survival (OS) of patients were analyzed by the Kaplan-Meier method. Independent prognostic factors were determined using multivariate Cox proportional hazard model. Results: There were no significant differences in age, gender, ISS stage, light chain, creatinine clearance, cytogenetic risk, 17p deletion, ASCT, and induction regimens among the three groups. Overall, 13% of EM-E patients had IgD-type M protein, which was significantly higher than that in EM-B patients (P=0.021). The median PFS of patients in the non-EMD, EM-B, and EM-E groups was 27.4, 23.1, and 14.0 months; the median OS was not reached, 76.8 months, and 25.6 months, respectively. The PFS (vs non-EMD, P=0.004; vs EM-B, P=0.036) and OS (vs non-EMD, P<0.001; vs EM-B, P=0.002) were significantly worse in patients with EM-E, while those were not significantly different between patients with EM-B and those with non-EMD. In the multivariate analysis, EM-E was an independent prognostic factor for OS in patients with NDMM (HR=8.779, P<0.001) and negatively impacted PFS (HR=1.874, P=0.050). In those who did not undergo ASCT, patients with EM-B had significantly worse OS than those with non-EMD (median 76.8 months vs. not reached, P=0.029). However, no significant difference was observed in the PFS and OS of patients with EM-B and those with non-EMD who underwent ASCT. Conclusions: Compared to patients with either non-EMD or EM-B, those with EM-E had the worst prognosis. EM-E was an independent risk factor for OS in patients with NDMM. ASCT can overcome the poor prognosis of EM-B.
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Humanos , Mieloma Múltiplo/terapia , Estudos Retrospectivos , China , Transplante de Células-Tronco Hematopoéticas , Prognóstico , Transplante AutólogoRESUMO
The laboratory diagnostic strategy for human immunodeficiency virus (HIV) is a process to accurately detect HIV patients through a combination of available HIV tests. Laboratory tests for HIV infection are mainly serological antibody and antigen testing and HIV RNA testing. With the update of testing reagents, the sensitivity and specificity have improved substantially and the window period of detection has shortened, but there is a risk of false positives. Various guidelines have recommended different diagnostic strategies for different target populations and different prevalence regions to guide patients to confirm the diagnosis and receive standardized antiretroviral therapy as early as possible. How to refer to the diagnostic strategies, reduce false positives and shorten the window period while increasing the detection rate is an urgent issue for laboratories to address. This article describes the characteristics and advantages and disadvantages of testing methods related to HIV infection from the perspective of laboratory diagnostic strategies, as well as the impact of the development of treatments on diagnostic strategies, in order to provide theoretical support for the practical application of HIV diagnostic strategies.
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Humanos , HIV , Infecções por HIV/diagnóstico , Sensibilidade e Especificidade , Técnicas de Laboratório Clínico/métodos , Controle de QualidadeRESUMO
In order to judge the future development trend of science and technology, plan ahead and lay out the frontier technology fields and directions, China Association of Chinese Medicine(CACM) has launched consultation projects for collecting "major scienti-fic issues and engineering technology difficulties in traditional Chinese medicine(TCM)" for the industry for three consecutive years since 2019. Up to now, 18 projects have been selected as major issues for research, and some experience and achievements have been made. These projects have been applied in important scientific and technological work such as scientific and technological planning and deployment at all levels of national, local, and scientific research institutions, the selection and cultivation of major national scientific and technological projects, and the construction of innovation bases, giving full play to the role of the think tank advisory committee of CACM. This study reviewed the selection of major issues for the first time, systematically combed its application in the national layout of science and technology, and put forward the existing problems and improvement suggestions, aiming to provide new ideas for further improving the selection of major issues and research direction, providing a theoretical basis and decision support for the national scientific and technological layout in the field of TCM, and promoting scientific and technological innovation to facilitate the high quality development of TCM.
Assuntos
Medicina Tradicional Chinesa , Invenções , China , Medicamentos de Ervas ChinesasRESUMO
Objective To investigate the relationship between serum levels of microRNA-130a(miR-130a),angiotensin Ⅱ(AngⅡ)and the degree of coronary artery lesions in patients with acute coronary syn-drome(ACS).Methods A total of 160 ACS patients admitted to the hospital from January 2021 to February 2023 were selected as the ACS group.According to total Gensini score,ACS patients were divided into mild group(57 cases),moderate group(54 cases)and severe group(49 cases).At the same time,160 healthy peo-ple were selected as the control group.The clinical data of all subjects were collected.The serum levels of miR-130a and AngⅡ were detected by real-time fluorescence quantitative PCR and enzyme-linked immunosor-bent assay,respectively.The clinical data and serum levels of miR-130a and AngⅡ were compared between control group and ACS group.The serum levels of miR-130a and AngⅡ were compared between ACS patients with different degrees of disease.Pearson correlation analysis was used to analyze the correlation between ser-um miR-130a level and AngⅡ in ACS patients.Multivariate Logistic regression was used to analyze the risk factors of ACS.Receiver operating characteristic curve was used to analyze the diagnostic value of serum miR-130a and AngⅡ levels for moderate and severe ACS.Results Compared with the control group,the ACS group had significantly higher proportions of patients with a history of hypertension and diabetes and signifi-cantly higher serum levels of miR-130a and AngⅡ(P<0.05).The serum levels of miR-130a and AngⅡ were increased sequentially in the mild group,moderate group and severe group(P<0.05).Serum miR-130a level was positively correlated with AngⅡ level in ACS patients(P<0.05).Hypertension,diabetes history and ele-vated serum levels of miR-130a and AngⅡ were independent risk factors for ACS(P<0.05).The area under the curve(AUC)of serum miR-130a,AngⅡ and their combination in the diagnosis of moderate ACS were 0.728,0.823 and 0.885,respectively,and the AUC of the combination of miR-130a and AngⅡ was higher than that of miR-130a,AngⅡ(P<0.05).The AUC of serum miR-130a,AngⅡ and their combination in the diagnosis of severe ACS were 0.731,0.730 and 0.825,respectively.The AUC of the combination of miR-130a and AngⅡ was higher than that of miR-130a and AngⅡ(P<0.05).Conclusion ACS patients serum miR-130-a,AngⅡ level is higher,and the serum miR-130a,AngⅡ levels are associated with the ACS degree of cor-onary artery lesions,the combination of the both degree of coronary artery lesions with high diagnostic value.
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Purpose To explore the association of tumor budding in preoperative biopsies with the clinicopathological characteristics of colorectal cancer(CRC),and its effects on the prognosis.Methods A total of 144 preoperative biopsies and corresponding radical resection specimens of colorectal ade-nocarcinoma were collected.Tumor budding was evaluated by HE staining and EnVision immunohistochemical staining,to an-alyze the association of tumor budding with the clinicopathologi-cal characteristics and prognosis in biopsies.Results The de-tection rate of intra-tumoral budding(ITB)in biopsy specimens was 39.6%(57/144),and peritumoural budding(PTB)in surgical specimens was 64.6%(93/144);ITB was significantly correlated with PTB(r =0.510,P<0.05).The proportion of patients with lymph node metastasis,pTNM stage,differentiated degree,vascular invasion and nerve recidivism in the tumor bud-ding group of biopsies was significantly higher than that in no tumor budding group(P<0.05).Kaplan-Meier survival analy-sis showed that ITB significantly affected the overall survival and progression free survival of CRC(P<0.05).Conclusion The presence of ITB in biopsies tissue may be an important indicator of invasive behavior and poor prognosis in CRC.