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1.
Zhonghua Bing Li Xue Za Zhi ; 50(9): 1034-1038, 2021 Sep 08.
Article in Zh | MEDLINE | ID: mdl-34496495

ABSTRACT

Objective: To establish a speech recognition system based on adaptive technology and to evaluate its value in pathological grossing processes. Methods: A total of 600 tissue specimens were collected at the Zhejiang Provincial People's Hospital affiliated to Hangzhou Medical College between October 1, 2020 and December 31, 2020. A speech recognition system based on adaptive technology was used in the pathological grossing processes, and the pathological examination reports were generated and extracted. Results: The speech recognition system based on adaptive technology showed a good recognition rate (overall recognition rate = 77.87%) and helped achieve rapid input and output of pathological examination data. Conclusions: The speech recognition system can reduce the labor costs, improve the work efficiency of pathologists and increase the quality of medical services, which may be valuable for building next-generation smart hospitals.


Subject(s)
Speech Recognition Software , Technology , Humans
2.
Phys Rev Lett ; 125(3): 034801, 2020 Jul 17.
Article in English | MEDLINE | ID: mdl-32745390

ABSTRACT

In order to address the present difficulty in experimentally generating the relativistic Laguerre-Gaussian laser, primarily due to damage caused to optical modulators, a high-reflectivity phase mirror is applied in the femtosecond petawatt laser system to generate a relativistic hollow laser at the highest intensity of 6.3×10^{19} W/cm^{2} for the first time. A simple optical model is used to verify that the vortex laser may be generated in this new scheme; using such a relativistic vortex laser, the hollow plasma drill and acceleration are achieved experimentally and proven by particle-in-cell simulations. With the development of the petawatt laser, this scheme opens up possibilities for the convenient production of the relativistic hollow laser at high repetition and possible hollow plasma acceleration, which is important for a wide range of applications such as the generation of radiation sources with orbital angular momentum, fast ignition for inertial confinement fusion, and jet research in the astrophysical environment.

3.
Zhonghua Yi Xue Za Zhi ; 100(15): 1169-1174, 2020 Apr 21.
Article in Zh | MEDLINE | ID: mdl-32311882

ABSTRACT

Objective: To present the technique and clinic effect of the combined method of proximalization of the patella and double boundle reconstruction of medial patellofemoral ligament (MPFL) with adductor magnus tendon autograft for the treatment of habitual dislocation of patella (HDP) in adolescent. Methods: From August 2016 to August 2018, a total of 33 consecutive skeletally immature adolescent patients (37 knees) with HDP were surgically treated in Beijing Jishuitan Hospital and were retrospectively reviewed. Among them, 10 patients (12 knees) with severe quadriceps contracture underwent the index comprehensive procedure. There were 4 males and 6 females with a mean age of (12.1±1.4) years (10 to 14 years old) at the operation. Before surgery and at the final follow-up, subjective symptoms were scored by Lysholm knee score, physical examination and radiological assessment were performed. Results: of patellar tracking were assessed by congruence angle and lateral patellofemoral angle. Results Patients were followed up for an average period of 23 months (12-36 months). No infection, patella redislocation were observed in all cases. Lysholm scores improved from 77±9 before surgery to 96±6 at the final follow-up (t= -23.155, P<0.05). There was a statistically significant improvement in the congruence angle, from 72.4°±17.2° preoperatively to -7.5°±4.8° at the final follow-up (t=21.392, P<0.01) and in the lateral patellofemoral angle, from -64.6°±9.4° preoperatively to 6.5°±3.7° at the final follow-up (t=-22.874,P<0.01). Conclusion: In this short term study, the novel comprehensive procedure, including proximalization of the patella and double boundle reconstruction of MPFL with adductor magnus tendon autograft, treats HDP effectively in skeletally immature adolescent patients with severe quadriceps contracture.


Subject(s)
Patellar Dislocation , Patellar Ligament , Patellofemoral Joint , Plastic Surgery Procedures , Adolescent , Autografts , Child , Female , Humans , Ligaments, Articular , Male , Patella , Retrospective Studies , Tendons
4.
Article in Zh | MEDLINE | ID: mdl-32062900

ABSTRACT

To analyze the difficulty, distinction and result of the first national public health practice skills competition among college students, it showed the general situation of this competition, and discussed the present situation, problems and countermeasures of skills training for students majoring in preventive medicine. Based on such competition, educators can promote teaching reform and post competency training.


Subject(s)
Public Health Practice , Public Health/education , Students , Humans , Universities
5.
Zhonghua Yi Xue Za Zhi ; 99(1): 30-35, 2019 Jan 01.
Article in Zh | MEDLINE | ID: mdl-30641661

ABSTRACT

Objective: To investigate the efficacy of single-portal arthroscopic-assisted reduction technique in the developmental dislocation of the hip in infants. Methods: From January 2014 to December 2016, 12 dislocated hips in 12 children with a median age of 14 months (10 to 20 months) were treated with single-portal arthroscopic-assisted reduction technique. The indication for intervention was failure of closed reduction after bilateral adductor and unilateral iliopsoas release under anesthesia. Adductor and iliopsoas tendon were released routinely through a medial approach. Through the same medial approach a single-portal arthroscopic-assisted reduction technique was selected, with a medial sub-adductor portal for both 4.0 mm cannulated system with a 30° arthroscope and the instruments. After assessing of the intraarticular structures, the hypertrophic ligamentum teres and acetabular pulvinar were resected, and transverse acetabular ligament (TAL) was incised and a limited release of the capsule was performed prior to reduction of the hip. Arthrography was performed after reduction in all children. Safe zone angle and the medialization ratio on the arthrogram were compared pre and post arthroscopic reduction. Acetabular index were compared at two time points: before operation and at the latest follow-up with paired t test. Results: All hips were reduced with single-portal arthroscopic procedures. The reduction was confirmed on arthrography. With a median follow-up of 26 months (18 to 36 months), all 12 hips remained stable. Safe zone angle increased from 18.5°±3.8° to 61.9°±6.5° immediately after arthroscopic reduction(t=-28.944, P<0.01); and the medialization ratio on the arthrogram increased from 62%±20% to 104%±16% immediately after arthroscopic reduction (t=-3.519, P<0.05). The mean acetabular index decreased from 40.6°±5.0° to 29.4°±5.0° at the latest follow-up (t=5.463, P<0.01). However, Kalamchi-MacEwen type Ⅰ avascular necrosis was developed only in 1 case, and residual dysplasia was observed in 2 hips. Conclusions: Single-portal arthroscopic-assisted reduction technique is a safe and effective treatment for developmental dislocation of the hip in infants and toddlers.


Subject(s)
Arthroscopy , Hip Dislocation, Congenital , Acetabulum , Follow-Up Studies , Hip Dislocation , Hip Joint , Humans , Infant , Treatment Outcome
6.
Zhonghua Yi Xue Za Zhi ; 99(23): 1792-1795, 2019 Jun 18.
Article in Zh | MEDLINE | ID: mdl-31207689

ABSTRACT

Objective: To evaluate the effects of treatment of post-traumatic distal radius partial physeal arrest with physeal bar resection. Methods: From February 2007 to November 2017, 11 children with distal radius physeal arrest received physeal bar resection in the Department of Pediatric Orthopedics, Beijing Jishuitan Hospital. There were 2 females and 9 males. The average age of the patients was (10.1±1.8) years (range,7-13 years). All cases had previous history of distal radius trauma. The average duration from the previous fracture to the physeal bar resection operation was (22.8±3.2) months (range,22 to 41 months). Clinical and radiological evidence of distal radius physeal arrest were suggested in all patients. A CT or MRI scan was performed preoperatively to assess the size of the physeal bridge. Inclusion criteria were patients with a physeal bridge<30% of the physeal area,and with at least 2 years of growth remaining. The physeal bar resection operation was performed with the assistance of either fluoroscopy (5 cases) or intraoperative three dimensional navigation (6 cases). After resection, the void was then filled with bone wax in all cases and distal ulnar epiphysiodesis was conducted in 5 cases. The mean follow-up duration was (3.7±1.6) years (range,1-9 years). The clinical examination data and X ray were obtained during the follow up. Results: Four cases obtained fully recovery from the operation and the deformity got fully correction. The X ray showed no bone bridge recurred. The deformity did not aggravate in 1 case. The deformity aggravated and subsequent osteotomy was conducted in the left 6 cases. Three cases in the navigation group obtained fully recovery. One case in the fluoroscopy group obtained fully recovery. Conclusions: The intraoperative three dimensional navigation can precisely locate the bone bridge. The physeal bar resection is an effective technique in some post-traumatic distal radius partial physeal arrest.


Subject(s)
Radius , Adolescent , Child , Female , Growth Plate , Humans , Male , Radius Fractures , Ulna , Wrist Joint
7.
Fa Yi Xue Za Zhi ; 35(2): 234-239, 2019 Apr.
Article in English, Zh | MEDLINE | ID: mdl-31135121

ABSTRACT

ABSTRACT: Objective To provide reference for further perfection and revision of standards relevant to limb injury by comparing the evaluation results of different disability standards of long bone fracture. Methods Thirty cases were selected from the long bone fracture cases accepted by our institution in 2018. These cases include 5 cases of shoulder, elbow, wrist, hip, knee, ankle joints, respectively, to investigate the degree of loss of function of joints after long bone fracture. Disability evaluation was made according to Classification of the Impairment Related To Injury (hereinafter referred to as Classification), Assessment for Body Impairment of the injured in road traffic accidents (now repealed, hereinafter referred to as original Road Standard) and Identifying Work Ability-Gradation of Disability Caused by Work-related Injuries and Occupational Diseases (hereinafter referred to as Work Standard). The disability evaluation results of every domestic standard were compared with the joint damage rate of Guides to the Evaluation of Permanent Impairment (hereinafter referred to as GEPI). Results The functional loss rate of joints (except ankle) was 26%-48%,and the ankle functional loss rate was 51%-64%. The mean value of GEPI joint impairment rate of the joints was 13%-22%, with the fluctuation range less than 10%. The rate of level 10 disability was 100% according to the Classification. The rate of level 10 disability was 27%, the rate of level 9 disability was 6% and 67% were not disabled according to the original Road Standard. The rate of level 10 disability was 10% according to the Work Standard and 90% had a disability above level 10 (47% were classified as level 7 disability). Conclusion The people with limb joint dysfunction in this study had evaluation results with a smaller fluctuation range and better consistency according to the Classification and GEPI. The evaluation results according to the original Road Standard and the Work Standard has a less consistency. The Classification is more similar to GEPI and is more reasonable.


Subject(s)
Disability Evaluation , Disabled Persons , Forensic Medicine/standards , Fractures, Bone , Humans , Knee Joint , Wrist Joint
8.
Catheter Cardiovasc Interv ; 92(6): 1147-1152, 2018 11 15.
Article in English | MEDLINE | ID: mdl-30019847

ABSTRACT

OBJECTIVE: To evaluate the safety and efficacy of a new technique for accurate ostial/non-ostial coronary stenting in percutaneous coronary intervention (PCI). BACKGROUND: Accurate stent localization is a key factor impacting the postoperative success of patients undergoing PCI. However, the accurate localization of some lesions, especially ostial lesions, is very difficult to achieve, because they are often complicated by bobbing or to-and-fro movement of the stent during cardiac contractions. METHODS: We report a novel technique of precise ostial/non-ostial stenting based on the buddy balloon anchor stent (BBAS) technique. Between May 2014 and July 2017, 47 patients with significant ostial/non-ostial coronary stenosis that required accurate stenting were included in this study. Of them, 23 patients were treated using the conventional method and the remaining 24 patients were treated using (BBAS) technique. Evaluation was then performed using intravascular ultrasound (IVUS) in the procedural, or coronary computed tomography angiography (CCTA) in the follow up. RESULTS: Using the BBAS technique, the procedural success was achieved in all 24 (100%) cases. IVUS was performed in seven patients (29.17%) and no procedural complications occurred. All six failed cases that occurred among patients with right coronary artery and left anterior descending artery ostial stenosis treated using the conventional method, the lesions were subsequently successfully re-stented using the BBAS technique. After a follow-up of 3-36 months, CCTA was performed in 11 patients (45.83%), all the stents were in the accurate position. There were no major cardiovascular events of death, myocardial infarction, or target lesion revascularization. CONCLUSION: BBAS is a simple, highly successful and safe technique for accurate stenting of difficult ostial/nonostial coronary stenosis lesions.


Subject(s)
Angioplasty, Balloon, Coronary/methods , Coronary Artery Disease/therapy , Coronary Stenosis/therapy , Aged , Angioplasty, Balloon, Coronary/adverse effects , Angioplasty, Balloon, Coronary/instrumentation , Cardiac Catheters , Coronary Artery Disease/diagnostic imaging , Coronary Stenosis/diagnostic imaging , Female , Humans , Male , Middle Aged , Stents , Time Factors , Treatment Outcome
9.
Neoplasma ; 65(5): 656-663, 2018 Sep 19.
Article in English | MEDLINE | ID: mdl-29940773

ABSTRACT

Cancer is the main leading cause of death in the world, although it has been made noteworthy advances in cancer research in the past decades. Early detection of cancer is extremely important in improving the chances of successful therapy. Thus, it is urgently needed to make further efforts to explore novel tumor markers for treatment. Nicotinamide N-methyltransferase (NNMT) is a cytosolic enzyme which catalyzes the N-methylation of nicotinamide to form 1-methylnicotinamide (1-MNA), and plays an important role in controlling the intracellular concentration of nicotinamide. Nicotinamide, the precursor to NAD+, is an important cofactor that associates cellular redox states with energy metabolism. Growing evidence shows that NNMT protein levels are elevated in a variety of human cancers, and increased NNMT expression has been linked to tumor aggressiveness. This paper presents a review for the role of NNMT expressed in a series of human cancers and the regulating mechanism involved, and offers its potential value of NNMT in cancer detection and treatment.


Subject(s)
Neoplasms/enzymology , Nicotinamide N-Methyltransferase/analysis , Biomarkers, Tumor/analysis , Energy Metabolism , Humans
10.
Phys Rev Lett ; 119(16): 164801, 2017 Oct 20.
Article in English | MEDLINE | ID: mdl-29099228

ABSTRACT

We present experimental studies on ion acceleration using an 800-nm circularly polarized laser pulse with a peak intensity of 6.9×10^{19} W/cm^{2} interacting with an overdense plasma that is produced by a laser prepulse ionizing an initially ultrathin plastic foil. The proton spectra exhibit spectral peaks at energies up to 9 MeV with energy spreads of 30% and fluxes as high as 3×10^{12} protons/MeV/sr. Two-dimensional particle-in-cell simulations reveal that collisionless shocks are efficiently launched by circularly polarized lasers in exploded plasmas, resulting in the acceleration of quasimonoenergetic proton beams. Furthermore, this scheme predicts the generation of quasimonoenergetic proton beams with peak energies of approximately 150 MeV using current laser technology, representing a significant step toward applications such as proton therapy.

11.
Zhonghua Yi Xue Za Zhi ; 97(1): 33-37, 2017 Jan 03.
Article in Zh | MEDLINE | ID: mdl-28056288

ABSTRACT

Objective: To investigate the clinical application and preliminary results of 125I radioactive seeds brachytherapy in the comprehensive treatment of the pediatric soft tissue sarcoma in head and neck. Methods: A total of 24 pediatric patients with soft tissue sarcoma in head and neck were treated at Peking University School of Stomatology from April 2012 to July 2015. The data was collected and analyzed through statistical methods, which included the pathological type, gender, age, tumor location, volume, treatment and the clinical results after the application of 125I radioactive seeds brachytherapy. Results: Among the 24 patients, there were 18 patients of rhabdomyosarcoma, 2 Ewing's sarcoma, 2 fibrosarcoma, 1 synovial sarcoma and 1 malignant fibrous histiocytoma. After a follow-up of 9-48 months, 1 case of temporal rhabdomyosarcoma was observed to have a progression to the the lateral cranial base at the time of 12 months, 2 cases realized local control and systemic progression, the rest were completely relieved, and there was no recurrence during the follow-up period.The Kaplan-Meier survival analysis showed that the 1-year and 3-year local control rate were both 94.1%, the 1-year and 3-year event-free survival rate were 87.4% and 77.7%. Conclusion: The preliminary results indicate that 125I radioactive seeds brachytherapy play a very important role in the improvement of the local control rate and survival quality of the pediatric soft tissue sarcoma patient in head and neck, and it's a minimally invasive treatment with the advantage of accuracy andsmall side effects.


Subject(s)
Brachytherapy , Head and Neck Neoplasms/radiotherapy , Sarcoma/radiotherapy , Adolescent , Child , Disease-Free Survival , Head , Histiocytoma, Malignant Fibrous , Humans , Iodine Radioisotopes , Neck , Neoplasm Recurrence, Local , Soft Tissue Neoplasms
12.
Genet Mol Res ; 15(2)2016 May 13.
Article in English | MEDLINE | ID: mdl-27323041

ABSTRACT

This study was aimed at exploring the effects of P2X7 receptors on gp120-induced injury and naringin's protective effects against gp120-induced injury in BV2 microglia. BV2 microglia injury model was established by gp120 treatment and MTS assay was used to verify whether naringin has a cell-protective effect against gp120-induced injury. Changes in P2X7 receptor expression were assayed using RT-PCR, qPCR, and western blot. Results showed that the ODs of the Ctrl, gp120, gp120+naringin, and gp120+BBG groups were 0.91 ± 0.10, 0.71 ± 0.09, 0.83 ± 0.10, and 0.83 ± 0.10, respectively. Compared to the control group, the gp120 group showed a significantly decreased cell survival rate. Cell survival rates of the gp120+naringin group increased significantly compared to those of the gp120 group, while no difference was observed when compared to the gp120+BBG group. The relative P2X7 mRNA expression levels in the Ctrl, gp120, gp120+naringin, and gp120+BBG groups were 0.73 ± 0.06, 1.05 ± 0.06, 0.78 ± 0.05, and 0.81 ± 0.04, respectively. The corresponding P2X7 protein expression levels were 0.46 ± 0.04, 0.79 ± 0.04, 0.38 ± 0.07, and 0.42 ± 0.06. P2X7 mRNA and protein expression in the gp120 group increased significantly compared to those in the control group, and declined in the gp120+naringin group compared to those in the gp120 group. Therefore, P2X7 receptors might be involved in gp120-induced injury in BV2 microglia, and naringin might play a protective role by inhibiting the up-regulated expression of P2X7 receptors.


Subject(s)
Flavanones/pharmacology , HIV Envelope Protein gp120/toxicity , Microglia/drug effects , Receptors, Purinergic P2X7/metabolism , AIDS Dementia Complex/drug therapy , AIDS Dementia Complex/metabolism , AIDS Dementia Complex/virology , Animals , Cell Survival/drug effects , Cells, Cultured , Dose-Response Relationship, Drug , Mice , Microglia/metabolism , RNA, Messenger/genetics , RNA, Messenger/metabolism , Receptors, Purinergic P2X7/genetics , Signal Transduction/drug effects , Up-Regulation
13.
Zhonghua Yi Xue Za Zhi ; 96(37): 2983-2987, 2016 Oct 11.
Article in Zh | MEDLINE | ID: mdl-27760659

ABSTRACT

Objective: To explore the influence of the labro-chondral complex (LLC) on the development of the acetabulum after close reduction in developmental dysplasia of the hip (DDH). Methods: Sixty-one cases (72 hips) with DDH presented in Beijing Jishuitan Hospital were reviewed, all the patients were treated by closed reduction, arthrogram and Spica casting from March 2010 to December 2013. The anterior-posterior pelvic radiography was performed to evaluate the morphology of the labro-chondral complex and reduction of the hip. The cases were divided into Ⅰ, Ⅱ, Ⅲ, Ⅳ four groups according to the shape of the LLC initially, and when performed the secondary Spica cast after 3 months, these cases were divided into 0-0.4, 0.4-0.6, and >0.6, three groups based on the height difference ratio (HDR) of the LLC. The relationship between the shape and HDR of the LLC was analyzed. The AI and CE angle were used to evaluate development of the hip during the latest follow up. The impact of the shape and HDR of the LLC on the development of the acetabulum was explored as well. Results: The HDR was the least in the type Ⅰ hips, all cases were less than 0.6, the AI in this group was significantly lower than the others(24.33°±3.12°), and the CE angle was significantly higher in the type Ⅰ hips(15.22°±3.11°) during the latest follow up. The CE angle was significantly different among the three groups of HDR. The HDR was lower, the CE angle was higher. The AI in 0-0.4 group was significantly lower than the others(14.24°±3.10°). Conclusion: The shape of the LLC is helpful to judge development of the acetabulum when closed reduction was performed in DDH. And the HDR in the secondary cast change could be used as a sensitive index to predict development of the hip.


Subject(s)
Hip Dislocation, Congenital , Acetabulum , Arthrography , Humans , Radiography , Retrospective Studies , Treatment Outcome
14.
Zhonghua Yi Xue Za Zhi ; 96(12): 975-8, 2016 Mar 29.
Article in Zh | MEDLINE | ID: mdl-27045725

ABSTRACT

OBJECTIVE: To explore the effects of different fluid resuscitation regimens on oxygen metabolism during shock stage of burn injury in swine. METHODS: Twelve Bama miniature swines were divided into crystal and colloid group (Group 1) and Parkland group (Group 2) according to the random number table. The swine models of burns shock were established. The fluid resuscitation was begun at post injury hour (PIH) 2 according to Chinese formulation or Parkland's formulation, respectively. The blood pressure, urine volume, heart rate, central venous pressure (CVP), pulmonary capillary wedge pressure (PCWP) were recorded. The liquid volume was calculated at the first and second PIH 24. The changes in oxygen delivery (DO2), oxygen consumption (VO2), oxygen extraction (O2Ext) and D-lactate (D-LA) were determined before injury and at PIH 4, 8, 24, and 48. Statistical analyses were performed. RESULTS: There were no statistical differences between the two groups in blood pressure, urine volume, heart rate, CVP, PCWP in every interval (all P>0.05). The resuscitation liquid volume in the two groups during the first and second PIH 24 conformed to the domestic consensus. The VO2 at PIH 8 was significantly higher than that of pre-burn in both groups [(190±29) vs (83±42) L·min(-1)·m(-2,) (149±33) vs (85±15) L·min(-1)·m(-2,) both P<0.05], and the VO2 at PIH 8 was significantly higher in Group 1 than that in Group 2 (P<0.05). The DO2 at PIH 24 in Group 1 was significantly lower than that in Group 2 [(686±72) vs (853±81) L·min(-1)·m(-2,) P<0.05]. There were no significant differences between the two groups in O2Ext at any time points (all P>0.05). The D-LA at PIH 8 was significantly higher in Group 1 than that in Group 2 [(53±4) vs (45±6) mmol/L, P<0.05]. CONCLUSION: There are no significant differences in the resuscitation effects of the crystal and colloid resuscitation regimen and Parkland's formulation on oxygen metabolism during shock stage of burn injury in swine.


Subject(s)
Burns/therapy , Fluid Therapy , Oxygen Consumption , Oxygen/metabolism , Resuscitation/methods , Shock , Animals , Blood Pressure , Central Venous Pressure , Humans , Pulmonary Wedge Pressure , Swine , Swine, Miniature
16.
Genet Mol Res ; 13(2): 3819-25, 2014 May 16.
Article in English | MEDLINE | ID: mdl-24938469

ABSTRACT

High-sensitivity cardiac troponin T is a useful tool for diagnosing myocardial ischemia. However, its role in the prognosis of patients with acute myocardial infarction has not been studied. Here, the prognostic value of high-sensitivity cardiac troponin T for patients with acute myocardial infarction was investigated. The concentrations of high-sensitivity cardiac troponin T, other clinical chemistry makers, and living habits were investigated at the time of admission in patients with acute coronary syndrome, whereas the high-sensitivity cardiac troponin T concentrations at 6 h after admission and during recovery were analyzed in other patient groups. The concentration of high-sensitivity cardiac troponin T was significantly higher in patients with acute myocardial infarction than in those with other cardiac diseases and in controls (P < 0.01). Based on the standard diagnostic criterion, 134 patients were diagnosed with acute myocardial infarction. Monitoring the change in concentration of high-sensitivity cardiac troponin T in patients with acute coronary syndrome can reduce the risk of recurrence and death.


Subject(s)
Acute Coronary Syndrome/blood , Myocardial Infarction/blood , Prognosis , Troponin T/blood , Acute Coronary Syndrome/diagnosis , Acute Coronary Syndrome/pathology , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Myocardial Infarction/diagnosis , Myocardial Infarction/pathology , Recurrence , Risk Factors
17.
Zhonghua Xue Ye Xue Za Zhi ; 45(4): 370-377, 2024 Apr 14.
Article in Zh | MEDLINE | ID: mdl-38951065

ABSTRACT

Objective: The phenotype and genotype of a pedigree with Glanzmann thrombasthenia caused by compound heterozygous mutation in the ITGA2B gene and its molecular pathogenesis were explored. Methods: The platelet aggregation rate of the proband and his family was detected by using a platelet aggregation test with adenosine diphosphate, collagen, epinephrine, arachidonic acid, and ristocetin. The expression levels of CD41 (αⅡb), CD61 (ß3), and CD42b (GPⅠb) on the platelet surface was detected by flow cytometry. Gene sequencing technology was used for the genetic identification of the family. RT-PCR was used in the detection of mRNA splicing, and qRT-PCR was used in detecting the relative mRNA level of the ITGA2B gene. Bioinformatics analysis was used to evaluate the pathogenicity of mutation sites and their effects on protein structure and function. The expressions of total αⅡb and ß3 in platelets were analyzed by Western blot. Results: Except ristocetin, the other four inducers could not induce platelet aggregation in the proband. Flow cytometry showed that the expression levels of αⅡb and ß3 were only 0.25% and 9.76%, respectively, on the platelet surface of the proband, whereas GPⅠb expression was relatively normal. The expression levels of glycoproteins in the other family members were almost normal. c.480C>G and c.2929C>T mutations were detected in the proband through gene sequencing. The c.480C>G mutation was inherited from his mother, and the c.2929C>T mutation was inherited from his father. The RT-PCR and sequencing results showed that the c.480C>G mutation caused mRNA splicing in the proband and his mother, resulting in the deletion of 99 bases in c.476G-574A (p.S160-S192). qRT-PCR showed that the c.2929C>T variant reduced the mRNA level of the ITGA2B gene in the proband and his father. Bioinformatics analysis suggested that the c.480C>G mutation might form a binding sequence with hnRNP A1 protein and generate the 5'SS splice site. The three-dimensional structural model of the αⅡb subunit showed that the ß-propeller domain of the p.S160-S192 deletion lost two ß-strands and one α-helix in blade 2. The c.2929C>T nonsense mutation caused premature translation termination and produced a truncated protein with the deletion of p.R977-E1039, including the cytoplasmic domain, transmembrane domain, and a ß chain of the extracellular Calf-2 domain. The total αⅡb expression of the proband was absent, and the relative expression of ß3 was 11.36% of the normal level. Conclusion: The compound heterozygous mutation c.480C>G in exon 4 and c.2929C>T in exon 28 of the ITGA2B gene probably underlies Glanzmann thrombasthenia in this pedigree.


Subject(s)
Heterozygote , Integrin alpha2 , Mutation , Pedigree , Thrombasthenia , Humans , Integrin alpha2/genetics , Thrombasthenia/genetics , Male , Female , Platelet Aggregation , Genotype , Adult
18.
Inorg Chem ; 52(16): 9470-8, 2013 Aug 19.
Article in English | MEDLINE | ID: mdl-23914975

ABSTRACT

Two new crystal isomorphs consisting of complexes [(CH3CH2)3NH)]2[MoO2(C14H6O4)2] (1) and [(CH3CH2)3NH)]2[WO2(C14H6O4)2] (2) have been synthesized, respectively, and from which Mo-based flexible and durable nanopipes with diameters of 16 nm and lengths of hundreds of micrometers and W-based rigid and fragile nanotubules with ununiform diameters ranging from 30 to 100 nm and lengths in tens of micrometers have been prepared separately, which revealed that the change of the metal in the coordination center of the isomorphs can result in obvious variation to their nanostructures. The crystals both exhibited multilayered structures by the piling of lamellar repeating motifs through van der Waals forces, which are formed by the parallel alignment of 1D chains through hydrogen bonds, and the 1D chains are assembled by complexes 1 and 2, respectively, through geometrical intercalation and π-π packing. However, under grinding and ultrasonication, crystal 1 disassembled uniformly into longer and narrower nanostrips, whereas crystal 2 were broken at random into shorter and wider nanoribbons; therefore, the two lamellar nanostructures curled into different cylindrical nanospecies. The differences caused by Mo and W are the following: the Mo complex prefers to assemble into more durable one-dimensional structures along Mo-O bonds than W isomorphs; since Mo-O bonds are weaker than Mo═O and W-O bonds, then the weakest Mo-O bonds can be supported by the adjacent molecules through intercalation and π-π packing, which resulted in that the linkages among the Mo complexes are stronger along the Mo-O direction and hence the longer Mo-based cylindrical structure. Moreover, the flexibility of Mo-based nanopipes and the rigidity of W-based nanotubules might be attributed to that Mo possesses a lower melting point than W; therefore, Mo is softer and W is harsher.


Subject(s)
Molybdenum/chemistry , Nanostructures/chemistry , Organometallic Compounds/chemical synthesis , Tungsten/chemistry , Models, Molecular , Molecular Structure , Organometallic Compounds/chemistry , Particle Size , Surface Properties
20.
Eur J Cancer Care (Engl) ; 21(1): 78-86, 2012 Jan.
Article in English | MEDLINE | ID: mdl-21951300

ABSTRACT

During 2008-2009, only 4% of women targeted for cervical screening were screened in Tshwane, South Africa. The purpose of the study was to determine whether cervical screening uptake could be improved when breast and cervical screening are combined. An intervention research design was used. The intervention was assessed in terms of two outcomes, namely cervical screening uptake and the findings of the screening. The study was conducted in a resource poor environment in Tshwane. Convenience sampling was used to recruit the sample (n = 299) and a baseline survey was conducted before delivering the intervention. Only 14% of the sample (n = 299) reported having been screened for cervical cancer previously. The total sample (n = 299) were willing to have a clinical breast examination; however, only 65.4% of those eligible for cervical screening (n = 283) used the opportunity to be screened. The majority of the sample screened (n = 185) using acetic acid for visual inspection (VIA) were VIA negative; 12.4% were VIA positive and 4.4% were VIA positive, invasive cancer; the screening of 8.7% failed. Despite women's lack of knowledge of cervical cancer and the screening thereof, combining cervical screening and breast screening lead to an increase in cervical screening uptake.


Subject(s)
Breast Neoplasms/diagnosis , Mass Screening/organization & administration , Mass Screening/statistics & numerical data , Patient Acceptance of Health Care/statistics & numerical data , Uterine Cervical Neoplasms/diagnosis , Adult , Aged , Breast Neoplasms/psychology , Female , Health Behavior , Health Knowledge, Attitudes, Practice , Humans , Middle Aged , South Africa , Surveys and Questionnaires , Uterine Cervical Neoplasms/psychology , Young Adult
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