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1.
Acta Anatomica Sinica ; (6): 56-62, 2023.
Artículo en Chino | WPRIM | ID: wpr-1015243

RESUMEN

Objective To study whether bergapten (BG) protects PC12 cells from oxygen-glucose deprivation (OGD) induced cell injury by regulating long non-coding RNA (lncRNA) opioid receptor gene (Oprm1) expression. Methods PC12 cells were divided into control (Con) group, OGD group, OGD+ low concentration BG (BG-L) group, OGD+medium concentration BG (BG-M) group, OGD + high concentration BG (BG-H) group, OGD + pcDNA group, OGD+pcDNA-Oprm1 group, OGD+BG+si-NC group, OGD+BG+si-Oprm1 group. The malondialdehyde (MDA) content, superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) activities were measured by the kits. Cell apoptosis rate was analysed by flow cytometry. The expression level of Oprm1 was analysed by Real-time PCR. Results Compared with the Con group, the apoptosis rate and MDA content of PC12 cells in OGD group increased significantly, whereas Oprm1 expression, SOD and GSH-Px activity decreased significantly (P < 0. 05). Compared with the OGD group, the apoptosis rate and MDA content of PC12 cells in the OGD + BG-L group, OGD + BG-M group, OGD + BG-H group were significantly reduced, whereas the Oprm1 expression, SOD and GSH-Px activities increased significantly (P < 0. 05). Compared with the OGD+pcDNA group, the apoptosis rate and MDA content of the PC12 cells in the OGD+pcDNA-Oprm1 group reduced significantly, whereas the SOD and GSH-Px activities increased significantly (P<0. 05). Compared with the OGD+BG+si-NC group, the apoptosis rate and MDA content of PC12 cells in the OGD+BG+si-Oprm1 group increased significantly, whereas the SOD and GSH-Px activities decreased significantly (P < 0. 05). Conclusion Bergapten may alleviate OGD-induced PC12 cell injury, which is correlated to the up-regulation of lncRNA Oprm1 expression.

2.
Chinese Journal of Biologicals ; (12): 53-58+69, 2023.
Artículo en Chino | WPRIM | ID: wpr-965579

RESUMEN

@#Objective To investigate the effect of astragalus membranaceus(AM)injection on apoptosis and autophagy of human gastric epithelial cell line(GES⁃1)induced by enterovirus 71(EV71). Methods GES⁃1 cells were cultured in vitro and divided into infected group(EV71 infected at a MOI of 3 and control group(no virus infected). The morpho⁃logical changes of EV71 infected cells were observed by inverted microscope. The level of VP1 in GES⁃1 cells infected with EV71 was detected by Western blot;CCK⁃8 assay was used to detect the viability of GES⁃1 cells infected with EV71;Nuclear staining with DAPI was used to observe the morphological changes of nuclear apoptosis infected with EV71. GES⁃1 cells were divided into control group(without virus infection),infection group and AM intervention group with final concentration of 1,2. 5,5 and 10 μg/mL,respectively. Western blot was used to detect the effect of AM intervention on the expression of apoptosis⁃related proteins Caspase⁃3,PARP and autophagy⁃related proteins LC3 and P62 in GES⁃1 cells infected withEV71. CCK⁃8 method was used to detect the effect of AM intervention on the viability of GES⁃1 cells infected with EV71. Results GES⁃1 cells were round,shrunken with nuclear pyknosis and uneven size;VP1 level increased(t = 41. 56,P < 0. 01),cell viability decreased(t = 19. 07,P < 0. 01),Caspase⁃3 and PARP proteins were cut off(t = 35. 29 and 3. 648, P < 0. 01 and 0. 021 8,respectively),LC3Ⅱ/LC3Ⅰ ratio increased(t = 10. 16,P = 0. 000 5)and P62 protein was degraded(t = 68. 68,P < 0. 01);AM inhibited the degradation of Caspase⁃3,PARP and P62 proteins induced by EV71 (t = 52. 66,59. 60 and 40. 22,respectively,each P < 0. 01)and increased the ratio of LC3Ⅱ/LC3Ⅰ(t = 5. 521,P = 0. 005 3),andreducedtheinhibitoryeffectofEV71ontheviabilityofGES⁃1cells(t =4. 420,P =0. 0115). Conclusion EV71 infection induced apoptosis of GES⁃ 1 cells and AM intervention inhibited EV71 induced apoptosis by inhibiting EV71 induced autophagy.

3.
Chinese Journal of Medical Instrumentation ; (6): 294-297, 2023.
Artículo en Chino | WPRIM | ID: wpr-982231

RESUMEN

Oxygen therapy is an effective clinical method for the treatment of respiratory disorders, oxygen concentrator as a necessary medical auxiliary equipment in hospitals, its research and development has been a hot spot. The study reviewed the development history of the ventilator, introduced the two preparation technique of the oxygen generator pressure swing absorption (PSA) and vacuum pressure swing adsorption (VPSA), and analyzed the core technology development of the oxygen generator. In addition, the study compared some major brands of oxygen concentrators on the market and prospected the development trend of oxygen concentrators.


Asunto(s)
Oxígeno , Terapia por Inhalación de Oxígeno , Hospitales , Ventiladores Mecánicos , Diseño de Equipo
4.
Journal of Clinical Hepatology ; (12): 160-163, 2022.
Artículo en Chino | WPRIM | ID: wpr-913132

RESUMEN

Objective To investigate the application of intraoperative indocyanine green (ICG) cholangiography in the accurate identification of the common bile duct since common bile duct injury is a common complication of laparoscopic cholecystectomy (LC), and to reduce the incidence rate of common bile duct injury during LC. Methods A total of 68 patients who underwent LC in Zhuhai People's Hospital from April 2021 to Jane 2021 were enrolled, among whom 56 patients underwent conventional LC and 12 patients underwent LC under the guidance of ICG cholangiography. The common bile duct, cystic duct, and gallbladder were examined by white light laparoscopy for the conventional LC group and near-infrared laparoscopy for the ICG cholangiography group. The propensity score matching method was used to balance the preoperative data between the two groups. The t -test and the chi-square test were used for comparison of intraoperative blood loss, time of operation, length of postoperative hospital stay, and incidence rate of common bile duct injury between the two groups. Results Compared with the conventional LC group, the ICG cholangiography group had significantly lower intraoperative blood loss 3.1±0.9 mL vs 10.8±2.3 mL, t =-22.709, P < 0.05), significantly shorter time of operation (20.2±1.6 min vs 48.3±5.1 min, t =-19.856, P < 0.05) and length of postoperative hospital stay (1.2±0.3 days vs 2.3±0.8 days, t =-19.507, P < 0.05), and a significantly lower incidence rate of complications (0 vs 8.3%, χ 2 =1.287, P < 0.05). Conclusion ICG cholangiography is an effective method to differentiate between the common bile duct and the cystic duct during LC and can prevent common bile duct injury. This method has great advantages in the treatment of patients with gallstones due to its high degree of identification of the biliary tract, long onset time, repeated application, convenient operation, and ability to be combined with intraoperative navigation device.

5.
Acta Anatomica Sinica ; (6): 698-704, 2022.
Artículo en Chino | WPRIM | ID: wpr-1015273

RESUMEN

Objective To observe the expression and localization of β-site amyloid precursor protein cleaving enzyme 1 (BACEl) in rat superior cervical ganglion and the effect of chronic intermittent frypoxia (CIH) on BACEl level. Methods The expression and distribution of BACEl in superior cervical ganglion were detected by RT-PCR, Western blotting and immunohistochemistry. Totally 16 male SD rats were randomly divided into control group and CIH group, 8 rats in each group. After 2 weeks of modeling, the effect of CIH on BACEl and peroxisome proliferators activated receptor gamma coactivator 1 alpha (PGC-la) mRNA level was detected by RT-PCR. Results BACEl was expressed in rat superior cervical ganglion, and mainly distributed in satellite glial cells and nerve fibers, but not in blood vessels, neurons and small intesely fluorecent(SIF) cells. CIH down-regulated BACEl mRNA level, but up-regulated PGC-la mRNA level ( P < 0.01). Conclusion BACEl is located in satellite glial cells and nerve fibers in the superior cervical ganglion of rats. The decreased level of BACEl ma)' be involved in the regulation of CIH-induced synaptic plasticity of superior cervical ganglion.

6.
Chinese Journal of Medical Instrumentation ; (6): 368-372, 2022.
Artículo en Chino | WPRIM | ID: wpr-939749

RESUMEN

Breathing is of great significance in the monitoring of patients with obstructive sleep apnea hypopnea syndrome, perioperative monitoring and intensive care. In this study, a respiratory monitoring and verification system based on optical capacitance product pulse wave (PPG) is designed, which can synchronously collect human PPG signals. Through algorithm processing, the characteristic parameters of PPG signal are calculated, and the respiratory signal and respiratory frequency can be extracted in real time. In order to verify the accuracy of extracting respiratory signal and respiratory rate by the algorithm, the system adds the nasal airflow respiratory signal acquisition module to synchronously collect the nasal airflow respiratory signal as the standard signal for comparison and verification. Finally, the root mean square error between the respiratory rate extracted by the algorithm from the pulse wave and the standard respiratory rate is only 1.05 times/min.


Asunto(s)
Humanos , Algoritmos , Electrocardiografía , Frecuencia Cardíaca , Fotopletismografía , Respiración , Frecuencia Respiratoria , Procesamiento de Señales Asistido por Computador , Apnea Obstructiva del Sueño
7.
Chinese Journal of Medical Instrumentation ; (6): 302-306, 2022.
Artículo en Chino | WPRIM | ID: wpr-928909

RESUMEN

Hyperbaric oxygen therapy is a method of breathing pure oxygen or high-concentration oxygen in a highpressure environment to treat hypoxic diseases and related diseases. According to clinical verification, this therapy has an irreplaceable effect on certain diseases and has gradually become a comprehensive clinical treatment. One of the main methods of certain diseases is widely recognized by the medical field at home and abroad. The development history, treatment principles, key technologies, and future development trends of hyperbaric oxygen are discussed in detail, provide a research direction for the development of hyperbaric oxygen therapy in the future, and at the same time, it has also improved physicians' awareness of hyperbaric oxygen therapy, so as to improving Industry influence.


Asunto(s)
Oxigenoterapia Hiperbárica , Oxígeno/uso terapéutico , Proyectos de Investigación
8.
Chinese Journal of Applied Physiology ; (6): 68-74, 2022.
Artículo en Chino | WPRIM | ID: wpr-927900

RESUMEN

Objective: To investigate the mechanism that hypoxia promotes the migration of lung adenocarcinoma A549 cells. Methods: A549 cells were cultured and cells that knockdown of acetyl-CoA carboxylase 1 (ACC1) were obtained by transfection with lentivirus, and cells that knockdown of sterol regulatory element-binding proteins-1 (SREBP-1) were obtained by treated with si-RNA. A549 cells were treated with hypoxia combined with hypoxia inducible factor-1α (HIF-1α) inhibitor PX-478 (25 μmol); Hypoxia combined with linoleic acid (LA) (20 μmol) treated A549 cells with ACC1 knockdown, and A549 cells with SREBP-1 knockdown were treated by hypoxia. Transwell migration assay was used to detect cell migration. Western blot was conducted to detect HIF-1α, ACC1 and epithelial mesenchymal transition (EMT) related proteins, Vimentin, E-Cadherin and SREBP-1; Real-time fluorescent quantitative polymerase chain reaction (RT-qPCR) was performed to detect the changes of ACC1 and SREBP-1 mRNA in A549 cells after hypoxia and HIF-1α inhibitor PX-478 (25 μmol) treatment. Each experiment was repeated three times. Results: Compared with the normoxic control group, hypoxia promoted the migration of A549 cells (P<0.01), and up-regulated the expressions of ACC1, HIF-1α (all P<0.01) and SREBP-1 (P<0.05). PX-478 (25 μmol) inhibited the migration of A549 cells induced by hypoxia and down-regulated the expression of SREBP-1 (all P<0.05). ACC1 mRNA and SREBP-1 mRNA levels were increased after hypoxia treatment of A549 cells (all P<0.05). The levels of ACC1 mRNA and SREBP-1 mRNA were decreased after A549 cells treated with hypoxia combined with PX-478 (25 μmol) for 24 h (P<0.05, P<0.01). Knockdown of SREBP-1 in A549 cells was obtained by transfection with si-RNA. Transwell migration assay showed the number of cell migration in si-SREBP-1 group was less than that in normoxia control group (P<0.01). The si-SREBP-1 group and the si-NC group were treated with hypoxia. Compared with the control group, the number of cell migration in the si-SREBP-1 group was decreased (P<0.01), however, the difference was not statistically significant compared with the normoxia si-SREBP-1 group (P>0.05). Western blot showed that the expression of ACC1 in the si-SREBP-1 group was lower than that in the control group (P<0.01). Compared with the control group, the expression of ACC1 was decreased after si-SREBP-1 group treated with hypoxia (P<0.01). Knockdown of ACC1 inhibited the migration of A549 cells (P<0.05). After knockdown of ACC1, the migration number of A549 cells under normoxia and 5% O2 conditions had no significant difference (P>0.05). Application of LA under hypoxia condition rescued ACC1-knockdown induced inhibitory effect on hypoxia-promoted A549 cell migration (P<0.05). Conclusion: Hypoxia promotes migration of lung adenocarcinoma A549 cells by regulating fatty acid metabolism through HIF-1α/SREBP-1/ACC1 pathway.


Asunto(s)
Humanos , Células A549 , Acetil-CoA Carboxilasa , Adenocarcinoma del Pulmón , Hipoxia de la Célula/fisiología , Línea Celular Tumoral , Hipoxia , Subunidad alfa del Factor 1 Inducible por Hipoxia , Neoplasias Pulmonares , ARN/metabolismo , ARN Mensajero/metabolismo , Proteína 1 de Unión a los Elementos Reguladores de Esteroles/metabolismo
9.
Clinics in Orthopedic Surgery ; : 261-265, 2021.
Artículo en Inglés | WPRIM | ID: wpr-897926

RESUMEN

Background@#The accessory tendon of the extensor hallucis longus (ATEHL) muscle is a common abnormal structure, and its clinical significance remains debatable. In this study, we provide the incidence of the ATEHL and characterize its morphological types in Asian cadavers and investigate its clinical applications. @*Methods@#The tendons from 50 adult cadaveric feet, fixed in 10% formalin, were analyzed. We measured the length and width of both the ATEHL and the extensor hallucis brevis (EHB). @*Results@#All dissected specimens had an ATEHL. The first metatarsophalangeal joint was surrounded by an accessory tendon that inserted onto the joint capsule and the dorsal base of the proximal phalanx. We classified the ATEHL into 3 types based on their directions. Differences in ATEHL type based on sex were not statistically significant. @*Conclusions@#We found an ATEHL in all cadaveric specimens in this study. We surmise that the ATEHL acts as an antagonist with the EHB when the toe is extending, which might help prevent the occurrence of hallux valgus deformity.

10.
Clinics in Orthopedic Surgery ; : 261-265, 2021.
Artículo en Inglés | WPRIM | ID: wpr-890222

RESUMEN

Background@#The accessory tendon of the extensor hallucis longus (ATEHL) muscle is a common abnormal structure, and its clinical significance remains debatable. In this study, we provide the incidence of the ATEHL and characterize its morphological types in Asian cadavers and investigate its clinical applications. @*Methods@#The tendons from 50 adult cadaveric feet, fixed in 10% formalin, were analyzed. We measured the length and width of both the ATEHL and the extensor hallucis brevis (EHB). @*Results@#All dissected specimens had an ATEHL. The first metatarsophalangeal joint was surrounded by an accessory tendon that inserted onto the joint capsule and the dorsal base of the proximal phalanx. We classified the ATEHL into 3 types based on their directions. Differences in ATEHL type based on sex were not statistically significant. @*Conclusions@#We found an ATEHL in all cadaveric specimens in this study. We surmise that the ATEHL acts as an antagonist with the EHB when the toe is extending, which might help prevent the occurrence of hallux valgus deformity.

11.
Acta Anatomica Sinica ; (6): 258-262, 2021.
Artículo en Chino | WPRIM | ID: wpr-1015477

RESUMEN

Objective To investigate the mechanism of hypoxia to promote human lung adenocarcinoma A549 cells migration through acetyl-CoA carboxylase 1 (ACCI). Methods Lung adenocarcinoma A549 cells were treated with hypoxia (5% 02 ). Transwell migration assay was used to detect cell migration ability. Western blotting was used to detect ACCI expression and epithelial-mesenchymal transition (EMT) related protein expression. Results Compared with the normoxia (control group), hypoxia treatment promoted the migration of A549 cells (P<0.01), ACCI expression was up- regulated after hypoxia treatment (P<0.01), and vimentin expression was detected to increase significantly (P<0.05), E- cadherin expression decreased (P<0.01) ; Compared with the control group, migration of A549 cells was inhibited (P<0.05), vimentin expression was down-regulated (P<0.05), and E-cadherin expression increased after knocking down ACC1(P<0.01). After ACCI was knocked down, the differences between the numbers of migration of A549 cells under normoxia and 5% 0

12.
Chinese Journal of Clinical Pharmacology and Therapeutics ; (12): 408-413, 2021.
Artículo en Chino | WPRIM | ID: wpr-1015049

RESUMEN

AIM: To study the bioequivalence of two metformin hydrochloride sustained-release tablets in Chinese healthy subjects. METHODS: A randomized, open-label, two-period, crossover study design was adopted in the study. In fasting test 36 and in fed test 23 healthy subjects were given a single oral dose of metformin hydrochloride sustained-release tablet (0.5 g). The concentration of metformin in plasma was measured by HPLC-MS/MS. The pharmacokinetic parameters were calculated by WinNonlin 7.0 program, and statistical analysis were performed by using SAS9.4 statistics software. RESULTS: In the fasting test, the pharmacokinetic parameters of metformin of the test (T) and reference(R) preparation were as follow: C

13.
Chinese Journal of Clinical Pharmacology and Therapeutics ; (12): 382-388, 2021.
Artículo en Chino | WPRIM | ID: wpr-1015045

RESUMEN

AIM: To establish an LC-MS/MS method to determine the concentration of ambrisentan in human plasma and apply it to the study of human pharmacokinetics. METHODS: After extracting ambrisentan and internal standard from human plasma by liquid-liquid extraction, chromatographic separation was performed on a Waters Symmetry C

14.
Tissue Engineering and Regenerative Medicine ; (6): 625-640, 2020.
Artículo en Inglés | WPRIM | ID: wpr-904038

RESUMEN

BACKGROUND@#The extracellular matrix (ECM) of articular cartilage has an inhibitory effect on vascularization, yet clinical utilization has been technically challenging. In this study, we aimed to fabricate a biologically functional ECM powder suspension from porcine articular cartilage that inhibits neovascularization (NV). @*METHODS@#The digested-cartilage acellular matrix (dg-CAM) was prepared by sequential processes of decellularization, enzymatic digestion and pulverization. Physicochemical properties of dg-CAM were compared with that of native cartilage tissue (NCT). Cellular interactions between human umbilical vein endothelial cells (HUVECs) and dg-CAM was evaluated with proliferation, migration and tube formation assays compared with that of type I collagen (COL) and bevacizumab, an anti-angiogenic drug. We then investigated the therapeutic potential of topical administration of dg-CAM suspension on the experimentally induced rabbit corneal NV model. @*RESULTS@#The dg-CAM released a significantly larger amount of soluble proteins than that of the NCT and showed an improved hydrophilic and dispersion properties. In contrast, the dg-CAM contained a large amount of collagen, glycosaminoglycans and anti-angiogenic molecules as much as the NCT. The inhibitory effect on NV of the dg-CAM was more prominent than that of COL and even comparable to that of bevacizumab in inhibiting the HUVECs. The therapeutic potential of the dg-CAM was comparable to that of bevacizumab in the rabbit corneal NV model by efficiently inhibiting neovessel formation of the injured cornea. @*CONCLUSION@#The current study developed a dg-CAM having anti-angiogenic properties, together with water-dispersible properties suitable for topical or minimally invasive application for prevention of vessel invasion.

15.
Tissue Engineering and Regenerative Medicine ; (6): 625-640, 2020.
Artículo en Inglés | WPRIM | ID: wpr-896334

RESUMEN

BACKGROUND@#The extracellular matrix (ECM) of articular cartilage has an inhibitory effect on vascularization, yet clinical utilization has been technically challenging. In this study, we aimed to fabricate a biologically functional ECM powder suspension from porcine articular cartilage that inhibits neovascularization (NV). @*METHODS@#The digested-cartilage acellular matrix (dg-CAM) was prepared by sequential processes of decellularization, enzymatic digestion and pulverization. Physicochemical properties of dg-CAM were compared with that of native cartilage tissue (NCT). Cellular interactions between human umbilical vein endothelial cells (HUVECs) and dg-CAM was evaluated with proliferation, migration and tube formation assays compared with that of type I collagen (COL) and bevacizumab, an anti-angiogenic drug. We then investigated the therapeutic potential of topical administration of dg-CAM suspension on the experimentally induced rabbit corneal NV model. @*RESULTS@#The dg-CAM released a significantly larger amount of soluble proteins than that of the NCT and showed an improved hydrophilic and dispersion properties. In contrast, the dg-CAM contained a large amount of collagen, glycosaminoglycans and anti-angiogenic molecules as much as the NCT. The inhibitory effect on NV of the dg-CAM was more prominent than that of COL and even comparable to that of bevacizumab in inhibiting the HUVECs. The therapeutic potential of the dg-CAM was comparable to that of bevacizumab in the rabbit corneal NV model by efficiently inhibiting neovessel formation of the injured cornea. @*CONCLUSION@#The current study developed a dg-CAM having anti-angiogenic properties, together with water-dispersible properties suitable for topical or minimally invasive application for prevention of vessel invasion.

16.
Biomedical and Environmental Sciences ; (12): 893-905, 2020.
Artículo en Inglés | WPRIM | ID: wpr-878305

RESUMEN

Objective@#Several COVID-19 patients have overlapping comorbidities. The independent role of each component contributing to the risk of COVID-19 is unknown, and how some non-cardiometabolic comorbidities affect the risk of COVID-19 remains unclear.@*Methods@#A retrospective follow-up design was adopted. A total of 1,160 laboratory-confirmed patients were enrolled from nine provinces in China. Data on comorbidities were obtained from the patients' medical records. Multivariable logistic regression models were used to estimate the odds ratio ( @*Results@#Overall, 158 (13.6%) patients were diagnosed with severe illness and 32 (2.7%) had unfavorable outcomes. Hypertension (2.87, 1.30-6.32), type 2 diabetes (T2DM) (3.57, 2.32-5.49), cardiovascular disease (CVD) (3.78, 1.81-7.89), fatty liver disease (7.53, 1.96-28.96), hyperlipidemia (2.15, 1.26-3.67), other lung diseases (6.00, 3.01-11.96), and electrolyte imbalance (10.40, 3.00-26.10) were independently linked to increased odds of being severely ill. T2DM (6.07, 2.89-12.75), CVD (8.47, 6.03-11.89), and electrolyte imbalance (19.44, 11.47-32.96) were also strong predictors of unfavorable outcomes. Women with comorbidities were more likely to have severe disease on admission (5.46, 3.25-9.19), while men with comorbidities were more likely to have unfavorable treatment outcomes (6.58, 1.46-29.64) within two weeks.@*Conclusion@#Besides hypertension, diabetes, and CVD, fatty liver disease, hyperlipidemia, other lung diseases, and electrolyte imbalance were independent risk factors for COVID-19 severity and poor treatment outcome. Women with comorbidities were more likely to have severe disease, while men with comorbidities were more likely to have unfavorable treatment outcomes.


Asunto(s)
Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , COVID-19/virología , China/epidemiología , Comorbilidad , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Resultado del Tratamiento
17.
J Genet ; 2019 May; 98: 1-11
Artículo | IMSEAR | ID: sea-215455

RESUMEN

Diagnosis and treatment of velocardiofacial syndrome (VCFS) with variable genotypes and phenotypes are considered to be very complicated. Establishing an exact correlation between the phenotypes and genotypes of VCFS is still a challenging. In this paper, 88 Chinese VCFS patients were divided into five groups based on palatal anomalies and one or two of other four common phenotypes, and copy number variations (CNVs) were detected using multiplex ligation-dependent probe amplification (MLPA), array comparative genomic hybridization (aCGH) and quantitative polymerase chain reaction. The findings showed that palatal anomalies and characteristic malformation of face were important indicators for 22q11.2 microdeletion, and there was difference inthe phenotypic spectrum between the duplication and deletion of 22q11.2. MLPA was a highly cost-effective, sensitive and preferred method for patients with 22q11.2 deletion or duplication. Our results also firstly reported that all three patients who simultaneously exhibited palatal anomalies and cognitive disorder, without other phenotypes, have Top3b duplication, which strongly suggested thatTop3b may be a pathogenic gene for these patients. Further, the findings showed that patients with palatal anomalies and congenital heart disease or immune deficiency, with or without other uncommon phenotypes, exhibited heterogeneity in CNVs, including 4q34.1-qter, 6q25.3, 4q23, Xp11.4, 13q21.1, 17q23.2, 7p21.3, 2p11.2, 11q24.3 and 16q23.3, and some possible pathogenic genes, including BCOR, PRR20A, TBX2, SMYD1, KLKB1 and TULP4 have been suggested. For these patients, aCGH, whole genomic sequencing,combined with references and phenomics database to find pathogenic gene,may be choices of priority. Taking these findings together, we offered an alternative method for diagnosis of Chinese VCFS patients based on this phenotypic strategy.

18.
Frontiers of Medicine ; (4): 350-359, 2018.
Artículo en Inglés | WPRIM | ID: wpr-772745

RESUMEN

To date, the efficacy of radical surgery (RS) versus conservative surgery (CS) for liver hydatid cysts (LHC) remains controversial. This meta-analysis was conducted to compare the two interventions. PubMed, Embase, and Web of Science were searched from their inceptions until June 2016. Meta-analysis was performed using STATA 12.0 software. We identified 19 eligible studies from 10 countries by retrieval. In total, 1853 LHC patients who received RS were compared with 2274 patients treated by CS. The risk of postoperative overall complication, biliary fistula, and recurrence was significantly lower, and operation time was significantly longer in the RS group. However, no statistically significant differences were found in terms of mortality risk and the duration of hospital stay between RS and CS. No significant publication biases were observed in all the above analyses. In conclusion, RS reduces the rates of postoperative complications and recurrence, whereas no trend toward such a reduction in mortality was observed in LHC patients.


Asunto(s)
Humanos , Equinococosis Hepática , Mortalidad , Cirugía General , Tiempo de Internación , Tempo Operativo , Complicaciones Posoperatorias , Epidemiología , Recurrencia , Resultado del Tratamiento
19.
Chinese Journal of Organ Transplantation ; (12): 96-103, 2018.
Artículo en Chino | WPRIM | ID: wpr-710670

RESUMEN

Objective To investigate the severity of allogenic rejection after partial liver transplantation (PLTx) with different graft weight to recipient liver weight (GW/RLW).Methods The full-size liver transplantation (group A),GW/RLW >33% PLTx (group B) and GW/RLW < 30% PLTx (group C) were set up using BN rats and Lewis rats as donors and recipients,respectively.All recipients were observed for 28 days.The Banff RAI grading,survival rate,jaundice and body weight recovery were evaluated to determine the severity of acute allogeneic rejection.Two PLTx groups,group B1 (GW/RLW>33%) and group C1 (GW/RLW<30%),were established to assess the mRNA level of IL-2,GranzymeB,Perforin and CD3 48 h and 7 days postoperatively.Additionally,the mRNA level of B7-H1,the ratio of Ki67 + hepatocytes and the liver enzymes were also assessed 7 days postoperatively.Results All recipients in group C died within 22 days postoperatively,presenting with severe lymphocytic infiltration and vascular endothelialitis.All recipients in group A and group B survived until the end of observation time.All recipients in group A survived and presented with a mild lymphocytic infiltration and rare vascular endothelialitis.Group B presented with moderate lymphocytic infiltration and moderate vascular endothelialitis.The Banff RAI grading in group C was significantly higher than that in group A and group B (P < 0.05).In accordance with the result of histology and survival rate,group B and group C presented with earlier jaundice and lower body weight recovery than that of group A (P<0.05).As compared with group B1,group C1 presented with higher mRNA levels of Perforin,GranzymeB,IL-2 and CD3,higher level of liver enzymes and heavier liver graft weights.Besides,the mRNA level of immunosuppresive molecule B7-H1 in group C1 was lower than that of group B1.However,there was no significant difference in the ratio of Ki67 + hepatocytes between group B1 and group C1.Conclusion The allogenic liver rejection may be enhanced by reducing the GW/RLW.

20.
Chinese Journal of Medical Genetics ; (6): 625-629, 2018.
Artículo en Chino | WPRIM | ID: wpr-688181

RESUMEN

<p><b>OBJECTIVE</b>To analyze the audiological features and genetic background of patients carrying mitochondrial DNA(mtDNA) 1555A>G mutation and factors which may influence the extent of nonsyndromic hearing loss associated with the mutation.</p><p><b>METHODS</b>A literature search was carried out on databases including PubMed, CNKI, Wanfang, and VIP. Combined with author's data, the clinical features of the patients, in particular audiological characteristics, were summarized.</p><p><b>RESULTS</b>A total of 857 effective cases were collected and analyzed. A significantly correlation was identified between history of aminoglycosides exposure and extent of hearing loss, in addition with a negative correlation between the age of onset and extent of hearing-impairment. Drug exposure was corelated with the age of onset but independent to the loss of high-frequency hearing loss. Heteroplasmies had a reverse correlation with the degree of hearing loss. Among the haplotypes of mitochondrial DNA, haplotype D was the most common one, while haplotype B had the highest penetrance.</p><p><b>CONCLUSION</b>Nonsyndromic hearing loss associated with mitochondrial DNA 1555A>G mutation is influenced by factors such as aminoglycosides exposure, age, proportion of mutation, and haplotype of the mitochondrial DNA. Analysis of clinical cases is critical for identifying individuals carrying deafness susceptibility mutations and is the first step for early diagnosis.</p>

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