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2.
Zhonghua Yi Xue Za Zhi ; 102(43): 3463-3468, 2022 Nov 22.
Artículo en Chino | MEDLINE | ID: mdl-36396363

RESUMEN

Objective: To explore the feasibility and accuracy of 0-1 h high sensitivity cardiac troponin I (hs-cTnI) concentration and its changes in judging non-ST segment elevation myocardial infarction (NSTEMI), and to investigate the feasibility of a simplified process. Methods: Patients with acute chest pain and suspected NSTEMI who were admitted to the emergency department of Fuwai Hospital, the First Affiliated Hospital of Sun Yat-sen University and Nanjing First Hospital from January 2017 to September 2020 were selected. Hs-cTnI test was carried out for the selected patients at the time of visit (0 h) and 1 h after visit. According to the 0-1 h hs-cTnI diagnostic process and threshold standard recommended by European Society of Cardiology (ESC) guidelines in 2015, the laboratory adjudication was determined. Cardiologists who did not participate in the project design and did not know the results of hs-cTnI test performed the clinical judgment according to the routine diagnosis and treatment process of emergency department. Taking clinical judgment as the gold standard, the diagnostic efficacy of 0-1 h hs-cTnI concentration and its change recommended by the guidelines for judging NSTEMI in Chinese population was analyzed. The guide process was simplified. Under the condition of not considering the time of chest pain, the guideline threshold was used for test and judgement, and the diagnostic efficacy of the simplified process was evaluated. Results: A total of 1 534 patients were enrolled in the study, aged (62±12) years and 952 (62.1%) patients were male. Among them, 402 patients (26.2%) were clinically diagnosed as NSTEMI and 1 132 patients (73.8%) were diagnosed as non-NSTEMI. According to the diagnosis and determination process recommended by the guidelines, NSTEMI was excluded in 672 patients (42.8%), and 464 patients (30.2%) were diagnosed as NSTEMI. The consistency rate with clinical determination reached 92.4% (1 050/1 136), the sensitivity of excluding diagnosis was 99.5% (95%CI: 98.0%-99.9%), the negative predictive value was 99.7% (95%CI: 98.8%-99.9%), and the negative likelihood ratio was 0.008 (95%CI: 0.002-0.335). The diagnostic specificity was 92.6% (95%CI: 90.9%-94.0%), the positive predictive value was 81.9% (95%CI: 78.0%-85.2%), and the positive likelihood ratio was 12.739 (95%CI: 10.356-15.670). According to the simplified process, NSTEMI was excluded in 675 patients (44.0%), and 463 patients (30.2%) were diagnosed as NSTEMI. The consistency rate with clinical judgment was 92.4% (1 051/1 138), the sensitivity of exclusion diagnosis was 99.3% (95%CI: 97.6%-99.8%), the negative predictive value was 99.6% (95%CI: 98.6%-99.9%), and the negative likelihood ratio was 0.012 (95%CI: 0.004-0.389). The diagnostic specificity was 92.6% (95%CI: 90.9%-94.0%), the positive predictive value was 81.9% (95%CI: 78.0%-85.2%), and the positive likelihood ratio was 12.705 (95%CI: 10.328-15.630). There was no significant difference in diagnostic efficacy between the simplified process and the recommended process (all P>0.05). Conclusion: The diagnostic process for judging NSTEMI according to the 0-1 h hs-cTnI concentration and its change criteria recommended by the 2015 ESC guidelines is applicable in the Chinese population and remains highly accurate in judging NSTEMI without considering the duration of chest pain at the time of presentation.


Asunto(s)
Infarto del Miocardio , Troponina I , Femenino , Humanos , Masculino , Dolor en el Pecho , Servicio de Urgencia en Hospital , Infarto del Miocardio/diagnóstico , Infarto del Miocardio/epidemiología , Valor Predictivo de las Pruebas , Persona de Mediana Edad , Anciano
3.
Zhonghua Shao Shang Za Zhi ; 38(7): 661-666, 2022 Jul 20.
Artículo en Chino | MEDLINE | ID: mdl-35899333

RESUMEN

Objective: To investigate the clinical effects of free peroneal artery perforator flaps in repairing forefoot skin and soft tissue defect wounds assisted with three-dimensional computed tomography angiography (3D-CTA). Methods: A retrospective observational study was conducted. From March 2017 to September 2019, 15 patients with skin and soft tissue defect wounds in the forefoot were treated in the Department of Burn and Plastic Surgery of Yidu Central Hospital of Weifang, including 12 males and 3 females, with age of 18-60 years. The wound area on admission was 3.0 cm×3.0 cm-9.0 cm×8.0 cm. The 3D-CTA examination before operation was performed to select the peroneal artery perforating vessels with appropriate length of vascular pedicle and good blood perfusion. According to the wound area and the perforating vessels of the peroneal artery located by 3D-CTA, the peroneal artery perforator flaps of 3.5 cm×3.5 cm-9.5 cm×8.5 cm carried with lateral sural cutaneous nerve was designed and cut, and the nerve was anastomosed with the nerve of the wound. The wound in the donor site of the flap was directly sutured or covered with medium-thickness skin graft from the thigh. The consistencies of type, diameter, and perforating position of perforating vessel of the peroneal artery detected by 3D-CTA before the operation with those of the actual measurement during operation were observed. The length of time for flap cutting and the survival of the flap after operation were recorded. During follow-up of 12 months after the operation, the patients were instructed to evaluate the foot function according to the Maryland foot function score standard, and the wound healing in the donor area and the occurrence of complications affecting the motor function of limb were observed. Data were statistically analyzed with paired sample t test. Results: The types of peroneal artery perforating vessels in patients measured during the operation were septocutaneous perforator of 12 cases, musculocutaneous perforator of 2 cases, and musculomuscular septal perforator of 1 case, which were consistent with those measured by preoperative 3D-CTA. The diameter of the peroneal artery perforating vessel measured by preoperative 3D-CTA was (1.38±0.17) mm, which was close to (1.40±0.19) mm measured during the operation (t=0.30, P>0.05). The horizontal distance from the starting point of the perforating vessel to the outer edge of the shank was (42±6) mm, and the vertical distance from the starting point of the perforating vessel to the level of the lateral ankle tip was (219±14) mm measured by preoperative 3D-CTA, which were respectively close to (43±6) and (221±15) mm of intraoperative measurement (with t values of 0.46 and 0.38, respectively, P>0.05). The length of time for cutting flap was (31±6) min. All flaps survived post operation without vascular crisis. During follow-up of 12 months after the operation, the foot function was evaluated as excellent in 11 cases, good in 3 cases, and fair in 1 case, the donor site wound healed well, the scar was not noticeable with no contracture, and the motor function of joints was not affected. Conclusions: Free peroneal artery perforator flap is one of the effective methods to reconstruct skin and soft tissue defect wounds in the forefoot, and the risk of surgery can be reduced when the anatomical location of the perforating vessels is confirmed by 3D-CTA.


Asunto(s)
Colgajo Perforante , Procedimientos de Cirugía Plástica , Traumatismos de los Tejidos Blandos , Adolescente , Adulto , Arterias , Angiografía por Tomografía Computarizada , Femenino , Humanos , Masculino , Persona de Mediana Edad , Colgajo Perforante/irrigación sanguínea , Procedimientos de Cirugía Plástica/métodos , Trasplante de Piel , Traumatismos de los Tejidos Blandos/cirugía , Resultado del Tratamiento , Adulto Joven
4.
Zhonghua Yi Xue Za Zhi ; 102(6): 418-422, 2022 Feb 15.
Artículo en Chino | MEDLINE | ID: mdl-35144341

RESUMEN

Objective: To investigate the risk factors for gestational diabetes mellitus (GDM) in elderly multipara women in the next pregnancy. Methods: A total of 219 elderly multipara women with 2 consecutive delivery records in Tianjin Binhai New Area Tanggu Obstetrics and Gynecology Hospital from January 2018 to May 2019 were included. Among them, 141 had normal glucose tolerance (NGT) and 78 of them had GDM. The clinical data of the previous and current pregnancy were collected to analyze the risk factors of GDM in elderly multipara women. Results: The average ages of 219 elderly women in previous pregnancy and this pregnancy were (31.9±2.2) and (36.7±1.5) years old, and the prevalence of GDM was 35.62% (78 cases). Compared to NGT group, GDM patients had higher fasting blood glucose(previous (5.51±1.43) vs (4.63±0.62) mmol/L; current (5.26±0.63) vs (4.59±0.30) mmol/L, 1 h blood glucose(previous (11.74±2.36) vs (9.50±1.82) mmol/L; current (11.03±2.03) vs (9.51±1.14) mmol/L) in 75 g oral glucose tolerance test (OGTT) in both previous and current pregnancy. The rates of cesarean section, in both previous and current pregnancy were higher in GDM group (previous 34.6% vs 4.3%; current 52.6% vs 22.0%). Furthermore, prenatal weight and body mass index (BMI) of the previous pregnancy, pre-pregnancy weight and BMI, and prenatal BMI of this pregnancy were also higher in GDM group, and the differences were all statistically significant (all P<0.05). Logistic multivariate regression analysis indicated cesarean section history (OR=10.80, 95%CI: (4.09-28.54)), GDM history of previous pregnancy (OR=10.64, 95%CI: (4.02-28.20)), 75 g OGTT fasting blood glucose≥ 4.86 mmol/L (OR=2.70, 95%CI: (1.27-5.70)), 1 h blood glucose after glucose administration ≥ 8.45 mmol/L (OR=1.78, 95%CI: (1.37-2.31)) were risk factors for GDM in elderly multipara women of this pregnancy. Conclusion: The risk of GDM in elderly multipara women with a history of cesarean section and GDM increases significantly. Results of OGTT in previous pregnancy also has predictive value.


Asunto(s)
Diabetes Gestacional , Anciano , Glucemia , Cesárea , Diabetes Gestacional/epidemiología , Femenino , Prueba de Tolerancia a la Glucosa , Humanos , Embarazo , Factores de Riesgo
5.
Zhonghua Gan Zang Bing Za Zhi ; 29(5): 468-471, 2021 May 20.
Artículo en Chino | MEDLINE | ID: mdl-34107586

RESUMEN

42 cases with gastroesophageal varices were prospectively included. The groups were treated with endoscopic band ligation or combined with tissue adhesive. The results showed that the left gastric vein internal diameter, average blood flow velocity and blood flow volume after the treatment of band ligation combined with tissue adhesive were significantly lower than that of the treatment of band ligation alone, and the differences were statistically significant (P < 0.05). Spleen and portal vein internal diameter, blood flow and average velocity, the liver and spleen size, shear wave velocity and liver function grade of the two groups after treatment did not change significantly (P > 0.05). The effective rate of band ligation combined with tissue adhesive in the treatment of esophageal and gastric varices (66.67%, 52.38%) were higher than that of band ligation alone (42.85%, 23.81%) (P > 0.05), and the re-bleeding rate of the latter was higher (9.52% and 19.05%, P > 0.05). Hence, it is suggested that the combined therapy is safe and more effective, and has no apparent effect on liver function and portal hypertension.


Asunto(s)
Várices Esofágicas y Gástricas , Adhesivos Tisulares , Várices , Várices Esofágicas y Gástricas/cirugía , Hemorragia Gastrointestinal/terapia , Humanos , Ligadura , Vena Porta/cirugía , Escleroterapia
6.
Zhonghua Shao Shang Za Zhi ; 37(1): 42-48, 2021 Jan 20.
Artículo en Chino | MEDLINE | ID: mdl-33499568

RESUMEN

Objective: To investigate the clinical effects of autologous platelet rich plasma (PRP) gel in combination with vacuum sealing drainage (VSD) technology in repairing refractory wounds. Methods: From March 2011 to January 2015, 44 patients with refractory wounds meeting the inclusion criteria were recruited into VSD alone group, who were admitted to the Department of Burns and Plastic Surgery of the Yidu Central Hospital of Weifang and received intermittent VSD treatment. From February 2015 to September 2019, 43 patients with refractory wounds meeting the inclusion criteria were recruited into PRP+ VSD group, who were admitted to the same unit as above-mentioned and received PRP combined with intermittent VSD treatment. The retrospective cohort study was conducted. There were 24 males and 20 females with age of (37.5±2.2) years in VSD alone group, and there were 25 males and 18 females with age of (37.0±2.5) years in PRP+ VSD group. The wound exudate of patients in the two groups before and 7 and 14 d after the first treatment were collected for bacterial culture, and the positive rate of bacterial culture was calculated. The wound healing of patients in the two groups was observed on 7, 14, and 21 d after the first treatment, and the wound healing rate was calculated. The complete wound healing time of patients in the two groups was recorded. The degree of wound pain of patients in the two groups was evaluated by the Visual Analog Scale (VAS) before and 14 d after the first treatment. The scar hyperplasia of patients in the two groups was evaluated by the Vancouver Scar Scale (VSS) in 1 and 2 months after the wound healed completely. The occurrence of adverse reactions of patients in the two groups during the whole period of treatment was observed and the incidence of adverse reactions was calculated. Data were statistically analyzed with analysis of variance for repeated measurement, chi-square test, paired t test, and Bonferroni correction. Results: The positive rates of bacterial culture in wound exudate of patients in PRP+ VSD on 7 and 14 d after the first treatment were 37.2% (16/43) and 11.6% (5/43), which were significantly lower than 56.8% (25/44) and 29.5% (13/44) in VSD alone group, χ(2)=4.212, 4.255, P<0.05. The wound healing rates of patients in PRP+ VSD group on 7 and 14, and 21 d after the first treatment were respectively (58±14)%, (70±13)%, (89±12)%, which were significantly higher than (41±11)%, (60±11)%, (74±12)% in VSD alone group, t=6.323, 3.820, 5.751, P<0.01. The complete wound healing time of patients in PRP+ VSD group was (30±6) d, which was significantly shorter than (61±8) d in VSD alone group, t=20.890, P<0.05. The VAS score of patients in PRP+ VSD group was significantly lower than that in VSD alone group on 14 d after the first treatment (t=13.904, P<0.01). The VSS score of patients in PRP+ VSD group was significantly lower than that in VSD alone group in 1 and 2 months after the wound healed completely (t=3.307, 3.637, P<0.01). The incidence of adverse reactions of patients in PRP+ VSD group during the whole period of treatment was 7.0% (3/43), which was significantly lower than 22.7% (10/44) in VSD alone group, χ(2)=4.245, P<0.05. Conclusions: Autologous PRP gel combined with VSD technology in repairing refractory wounds not only has good bacteriostatic effect, but also can increase wound healing rate, shorten wound healing time, alleviate wound pain, reduce scar hyperplasia, with less adverse reaction, which is worthy of promotion.


Asunto(s)
Terapia de Presión Negativa para Heridas , Plasma Rico en Plaquetas , Adulto , Drenaje , Femenino , Humanos , Masculino , Estudios Retrospectivos , Resultado del Tratamiento
7.
Eur Rev Med Pharmacol Sci ; 24(14): 7544, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-32744649

RESUMEN

Since this article has been suspected of research misconduct and the corresponding authors did not respond to our request to prove originality of data and figures, "MiR-150 alleviates EMT and cell invasion of colorectal cancer through targeting Gli1, by H. Fan, X. Liu, W.-W. Zheng, Z.-H. Zhuang, C.-D. Wang, published in Eur Rev Med Pharmacol Sci 2017; 21 (21): 4853-4859-PMID: 29164577" has been withdrawn. The Publisher apologizes for any inconvenience this may cause. https://www.europeanreview.org/article/13726.

8.
Zhonghua Shao Shang Za Zhi ; 36(4): 323-326, 2020 Apr 20.
Artículo en Chino | MEDLINE | ID: mdl-32340425

RESUMEN

Objective: To explore the effect of free medial plantar perforator flap in repairing deep burn wound on palm with assistance of three dimensional computed tomography angiography (CTA). Methods: From March 2015 to January 2018, 11 patients with deep burn wounds of palm were admitted to the Department of Burns and Plastic Surgery of Yidu Central Hospital of Weifang City, including 6 males and 5 females, aged 19-53 years. The wound area after debridement was 3.0 cm×2.5 cm-8.0 cm×6.0 cm. Before the operation, CTA of the foot was performed, and the three dimensional digital model was reconstructed by computer software to observe the initial position, course, and distribution of the arteries and veins in the donor site. The medial plantar perforator flap was designed according to the area and shape of the wound, with area of 3.5 cm×3.0 cm-8.5 cm×6.5 cm. After the wound was covered by the flap, the perforating branch of the medial plantar artery was anastomosed end to end with the carpal epithelial branch of the ulnar artery, the accompanying vein or the branch of the great saphenous vein was anastomosed end to end with the accompanying vein of the carpal epithelial branch of the ulnar artery, and the terminal branch of the saphenous nerve or the medial dorsal cutaneous nerve was anastomosed end to end with the superficial palmar branch of the ulnar nerve. The wound of donor site was covered with full-thickness skin graft from the outer thigh of the same side. The perforators of the medial plantar artery observed during the operation were compared with the reconstructed three dimensional CTA images. The survival of flap was observed, and the appearance and function of the flap were followed up and evaluated with trial standard for the evaluation of the functions of the upper limbs of the Hand Surgery Society of the Chinese Medical Association. Results: The initial position, course, and distribution of the perforator of the medial plantar artery during the operation were basically the same as those of the reconstructed three dimensional CTA images before the operation. All the flaps of patients survived after the operation. During the 6 months to 1 year follow-up, the appearance of flap was good, with no obvious swelling or pigmentation, but with good elasticity. The discrimination distance between the two points was 5.0-8.0 mm, and the flaps were evaluated as excellent in 4 cases, good in 6 cases, and fair in 1 case. Conclusions: The free medial plantar perforator flap is an ideal choice for repair of the deep burn wound on palm. Three dimensional CTA before the operation can detect condition of vascular variation, with high accuracy of vascular anastomosis during operation.


Asunto(s)
Quemaduras , Colgajo Perforante , Procedimientos de Cirugía Plástica , Traumatismos de los Tejidos Blandos , Adulto , Angiografía por Tomografía Computarizada , Femenino , Humanos , Masculino , Persona de Mediana Edad , Trasplante de Piel , Resultado del Tratamiento , Adulto Joven
9.
Eur Rev Med Pharmacol Sci ; 23(21): 9535-9547, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31773705

RESUMEN

OBJECTIVE: The aim of this study was to observe the therapeutic effects of three sequential drug-based treatments according to the cell cycle in rats with adriamycin-induced nephropathy. MATERIALS AND METHODS: A rat model of adriamycin-induced nephropathy was prepared by two injections, and three experimental groups were set up: control group (n=8); adriamycin-induced nephropathy rat group (n=8); and Meprednisone (MP), Ciclosporin (CsA), and mycophenolate (MMF) treatment group (n=8). Twenty-four-hour urine protein was quantified and serum total protein (TP), albumin (ALB), cholesterol (Chol), triglyceride (TG), urea nitrogen (BUN), and serum creatinine (Scr) were measured by an automatic biochemical analyzer. Pathological changes in renal tissues were observed by light microscopy. Serum matrix metalloproteinase-2 (MMP-2), MMP-9, and transforming growth factor-ß1 (TGF-ß1) were evaluated by double-antibody sandwich enzyme-linked immunosorbent assay (ELISA). Connective tissue growth factor (CTGF) expression was measured by Western blotting. Expression of nephrin and podocin in podocytes was compared by immunohistochemistry and quantitative Real Time-Polymerase Chain Reaction (qRT-PCR). RESULTS: Compared with the control group, 24-h urine protein in nephropathy group was significantly reduced at 2, 4, 8, and 12 weeks (p<0.01). Twenty-four-hour urine protein in the three treatment groups was significantly decreased compared with nephropathy group at 8 and 12 weeks (p<0.05). There were no significant differences among treatment groups (p>0.05), but their levels were higher than those in control group. TP and ALB levels in nephropathy group were decreased compared with control group (p<0.01) and increased compared with treatment groups (p<0.05), while TG and Chol levels in nephropathy group were increased compared with control group (p<0.01) and decreased compared with treatment group (p<0.05). There were no significant differences in biochemical parameters among the treatment groups. TGF-ß1 levels were decreased, MMP-2 and MMP-9 levels were increased, and CTGF expression was reduced in the three therapeutic groups. Among the treatment groups, the combination of MP, CsA, and Rapa significantly inhibited fibrosis. The protein and mRNA levels of nephrin and podocin were significantly decreased in nephropathy group and their expression and distribution were partially restored in treatment groups. CONCLUSIONS: The present findings suggest that the sequential therapeutic treatments based on the cell cycle significantly improved the pathological changes in adriamycin-induced nephropathy rats. The sequential treatments significantly reduced urine protein levels, increased TP, ALB, MMP-2, and MMP-9 levels, decreased TG, Chol, and TGF-ß1 levels, restored expression of nephrin and podocin in renal tissues, and significantly improved renal fibrosis.


Asunto(s)
Glomerulonefritis por IGA/tratamiento farmacológico , Inmunosupresores/farmacología , Animales , Ciclo Celular/efectos de los fármacos , Modelos Animales de Enfermedad , Doxorrubicina , Glomerulonefritis por IGA/inducido químicamente , Glomerulonefritis por IGA/patología , Masculino , Ratas , Ratas Sprague-Dawley
10.
Eur Rev Med Pharmacol Sci ; 21(21): 4853-4859, 2017 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-29164577

RESUMEN

OBJECTIVE: Epithelial-mesenchymal transition (EMT) is related to colorectal cancer invasion and metastasis. Glioma-associated oncogene homolog 1 (Gli1) abnormal expression is associated with EMT, invasion, and metastasis in various cancers. MiR-150 is found downregulated in colorectal cancer pathogenesis. Bioinformatics analysis shows the complementary targeted relationship between miR-150 and the 3'-UTR of Gli1 mRNA. This study explores the role of miR-150 in regulating Gli1 expression, colorectal cancer cell EMT, and invasion. MATERIALS AND METHODS: Dual luciferase assay confirmed the targeted relationship between miR-150 and Gli1 predicted by bioinformatics analysis. MiR-150 and Gli1 expressions were compared in NCM460, SW480, and SW620 cells. Cell colony formation and invasion were tested in SW480 and SW620 cells. Anip973 and AGYZ83-a cells were treated by 10 ng/mL TGF-ß1 to detect miR-150 and Gli1 expressions. SW620 cells were cultured in vitro and divided into five groups, including miR-NC, miR-150 mimic, si-NC, si-Gli1, and miR-150 mimic + si-Gli1 groups. RESULTS: MiR-150 specifically inhibited Gli1 expression. The level of miR-150 was significantly downregulated, while Gli1 was elevated in SW480 and SW620 cells compared with that in NCM460 cells. SW620 exhibited markedly stronger invasive and colony formation abilities than SW480. The level of miR-150 was apparently reduced, whereas Gli1 was increased in SW620 than that in SW480 cells after the treatment of TGFß1. MiR-150 mimic and/or si-Gli1 transfection markedly reduced Gli1 and Snail levels, upregulated E-cadherin expression, and attenuated cell colony formation and invasion. CONCLUSIONS: Downregulation of miR-150 and elevation of Gli1 promote the development and invasion of colorectal cancer cell EMT. MiR-150 attenuated the progression of colorectal cancer cell EMT via inhibiting Gli1.


Asunto(s)
Neoplasias Colorrectales/metabolismo , Neoplasias Colorrectales/patología , Transición Epitelial-Mesenquimal/genética , MicroARNs/genética , Invasividad Neoplásica/genética , Proteína con Dedos de Zinc GLI1/genética , Cadherinas/biosíntesis , Línea Celular Tumoral , Movimiento Celular/genética , Neoplasias Colorrectales/genética , Regulación hacia Abajo , Regulación Neoplásica de la Expresión Génica , Humanos , Factor de Crecimiento Transformador beta1/metabolismo , Ensayo de Tumor de Célula Madre , Regulación hacia Arriba
11.
Zhonghua Yi Xue Za Zhi ; 97(31): 2439-2442, 2017 Aug 15.
Artículo en Chino | MEDLINE | ID: mdl-28835045

RESUMEN

Objective: To explore the association between gene mutations and clinical characteristics in Chinese patients with epilepsy. Methods: A total of twenty-three patients with idiopathic epilepsy admitted to the Xuanwu Hospital of Capital Medical University from January 2014 to July 2016 were included.The age at onset of epilepsy ranged from 8 months to 31 years.All patients were screened for mutations by next-generation of sequencing (NGS), using a targeted capture panel of epilepsy and related seizures to screen forgene causative for or related to epilepsy.Some mutations were verified for inheritance by Sanger sequencing of two generations in the family.The differences in clinical characteristics among different mutation carriers were compared. Results: A total of 38 mutations were identified in 23 patients.Most of the patients presented with tonic-clonic seizures, and most were not accompanied by mental retardation.Causative genes were dominated by those encoding ion channel, enzyme and proteins with special functions.Although mutation carriers for genes encoding ion channel proteins and those with special functions were not significantly different in age at onset, types of seizure, family history or complications(P>0.05), patients presenting with tonic-clonic seizures had higher frequency of mutations in genes encoding ion channel (15/15)than those encoding proteins with special function(16/20)(P=0.066). Conclusions: NGS is a useful technology in detecting mutations in patients with various types of epilepsy and aiding in etiological diagnosis of the disease.Tonic-clonic seizures may correlate with mutations in genes encoding ion channel.


Asunto(s)
Epilepsia , Discapacidad Intelectual , Adolescente , Adulto , Niño , Preescolar , Epilepsia/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Lactante , Mutación , Convulsiones , Adulto Joven
12.
Genet Mol Res ; 16(1)2017 Jan 23.
Artículo en Inglés | MEDLINE | ID: mdl-28128409

RESUMEN

The giant panda, Ailuropoda melanoleuca (Ursidae), has a unique bamboo-based diet; however, this low-energy intake has been sufficient to maintain the metabolic processes of this species since the fourth ice age. As mitochondria are the main sites for energy metabolism in animals, the protein-coding genes involved in mitochondrial respiratory chains, particularly cytochrome c oxidase subunit II (COX2), which is the rate-limiting enzyme in electron transfer, could play an important role in giant panda metabolism. Therefore, the present study aimed to isolate, sequence, and analyze the COX2 DNA from individuals kept at the Giant Panda Protection and Research Center, China, and compare these sequences with those of the other Ursidae family members. Multiple sequence alignment showed that the COX2 gene had three point mutations that defined three haplotypes, with 60% of the sequences corresponding to haplotype I. The neutrality tests revealed that the COX2 gene was conserved throughout evolution, and the maximum likelihood phylogenetic analysis, using homologous sequences from other Ursidae species, showed clustering of the COX2 sequences of giant pandas, suggesting that this gene evolved differently in them.


Asunto(s)
Complejo IV de Transporte de Electrones/genética , Ursidae/genética , Animales , Metabolismo Energético/genética , Mitocondrias/genética , Mitocondrias/metabolismo , Ursidae/metabolismo
13.
Zhonghua Yi Xue Za Zhi ; 96(30): 2398-403, 2016 Aug 09.
Artículo en Chino | MEDLINE | ID: mdl-27545031

RESUMEN

OBJECTIVE: To investigate the bowel symptoms and psychological status of patients with irritable bowel syndrome (IBS) with diarrhea (IBS-D), and to verify whether sigmoid colon mucosal mast cells (MCs) and their activation have effect on the symptoms and psychological status of IBS-D patients. METHODS: Patients meeting Rome Ⅲ diagnostic and subtyping criteria of IBS-D who visited the outpatient clinic of gastroenterology of Peking Union Medical College Hospital were consecutively enrolled between July 2009 and June 2012. IBS symptoms questionnaire was completed using face-to-face interview, and Hamilton Anxiety Scale (HAMA)/ Hamilton Depression Scale (HAMD) were administrated to evaluate psychological status, both by well-trained investigators. Mast cell tryptase monoclonal antibody was used for immunohistochemical staining to detect MCs and degranulated MCs in mucosal biopsy of sigmoid colon. MCs and degranulated MCs were blindly counted by a senior pathologist, and presented as number of cells in high power field (HPF) and percentage of activated MCs. Correlation analysis was performed using Spearman rank correlation analysis. RESULTS: Ninety-seven patients with IBS-D were enrolled in this study, with mean age of (44±11) years. 70.10%(68 cases) of the IBS-D patients had comorbid anxiety and/or depression. The median total numbers of MCs, activated MCs, and percentage of activated MCs in sigmoid mucosa were 11.60 (7.09)/HPF, 2.00 (1.40) /HPF, and 17.50% (10.90%), respectively. Patients having abdominal pain/discomfort before bowel movement "every day with intermediate to high severity" had significantly larger numbers of total MCs in sigmoid colon compared with those with pain or discomfort "not every day and mild" [13.80(4.85)vs 7.60(5.90)/HPF, P=0.019]; the patient having "frequent" urge to have a bowel movement and mushy stools showed significantly higher percentage of activated MCs in sigmoid colon mucosa compared to those having the symptoms "some of the time" [18.75%(9.12%) vs 14.50%(13.14%), P=0.031; 21.33%(7.43%)vs 11.51%(10.65%)vs 18.42%(8.61%), P=0.030]. There was a positive correlation between the bowel movement during IBS-D onset and the percentage of activated MCs (r=0.221, P=0.030). There were no statistically significant differences in the total number of MCs and percentage of activated MCs between the patients with anxiety/depression and those without anxiety/depression (P=0.255, P=0.315). Scores of HAMA and HAMD were found not correlated with either total MCs number or percentage of activated MCs in sigmoid colon mucosa(all P>0.05). CONCLUSIONS: The majority of IBS-D patients had comorbid anxiety and/or depression. The total number and activation status of MCs in sigmoid colon mucosa might be related with some intestinal symptoms in IBS-D patients. Psychological disorders might influence the pathogenesis and regression of IBS-D through brain-gut axis other than MCs in sigmoid colon mucosa.


Asunto(s)
Colon Sigmoide , Diarrea , Mucosa Intestinal , Síndrome del Colon Irritable , Mastocitos , Dolor Abdominal , Adulto , Ansiedad , Biopsia , Comorbilidad , Depresión , Humanos , Escalas de Valoración Psiquiátrica , Estrés Psicológico , Encuestas y Cuestionarios
14.
Cell Death Dis ; 7: e2221, 2016 05 12.
Artículo en Inglés | MEDLINE | ID: mdl-27171263

RESUMEN

Mechanical stimulation and histone deacetylases (HDACs) have essential roles in regulating the osteogenic differentiation of bone marrow stromal cells (BMSCs) and bone formation. However, little is known regarding what regulates HDAC expression and therefore the osteogenic differentiation of BMSCs during osteogenesis. In this study, we investigated whether mechanical loading regulates HDAC expression directly and examined the role of HDACs in mechanical loading-triggered osteogenic differentiation and bone formation. We first studied the microarrays of samples from patients with osteoporosis and found that the NOTCH pathway and skeletal development gene sets were downregulated in the BMSCs of patients with osteoporosis. Then we demonstrated that mechanical stimuli can regulate osteogenesis and bone formation both in vivo and in vitro. NOTCH signaling was upregulated during cyclic mechanical stretch (CMS)-induced osteogenic differentiation, whereas HDAC1 protein expression was downregulated. The perturbation of HDAC1 expression also had a significant effect on matrix mineralization and JAG1-mediated Notch signaling, suggesting that HDAC1 acts as an endogenous attenuator of Notch signaling in the mechanotransduction of BMSCs. Chromatin immunoprecipitation (ChIP) assay results suggest that HDAC1 modulates the CMS-induced histone H3 acetylation level at the JAG1 promoter. More importantly, we found an inhibitory role of Hdac1 in regulating bone formation in response to hindlimb unloading in mice, and pretreatment with an HDAC1 inhibitor partly rescued the osteoporosis caused by mechanical unloading. Our results demonstrate, for the first time, that mechanical stimulation orchestrates genes expression involved in the osteogenic differentiation of BMSCs via the direct regulation of HDAC1, and the therapeutic inhibition of HDAC1 may be an efficient strategy for enhancing bone formation under mechanical stimulation.


Asunto(s)
Histona Desacetilasa 1/genética , Mecanotransducción Celular , Células Madre Mesenquimatosas/metabolismo , Osteogénesis/genética , Osteoporosis/genética , Acetilación/efectos de los fármacos , Animales , Benzazepinas/farmacología , Fenómenos Biomecánicos , Células de la Médula Ósea/citología , Células de la Médula Ósea/metabolismo , Diferenciación Celular , Proliferación Celular , Regulación de la Expresión Génica , Suspensión Trasera , Histona Desacetilasa 1/antagonistas & inhibidores , Histona Desacetilasa 1/metabolismo , Inhibidores de Histona Desacetilasas/farmacología , Histonas/genética , Histonas/metabolismo , Humanos , Proteína Jagged-1/genética , Proteína Jagged-1/metabolismo , Masculino , Células Madre Mesenquimatosas/citología , Ratones , Ratones Endogámicos C57BL , Osteoporosis/metabolismo , Osteoporosis/patología , Cultivo Primario de Células , Regiones Promotoras Genéticas , ARN Interferente Pequeño/genética , ARN Interferente Pequeño/metabolismo , Receptores Notch/antagonistas & inhibidores , Receptores Notch/genética , Receptores Notch/metabolismo
15.
Osteoarthritis Cartilage ; 24(1): 158-68, 2016 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-26247612

RESUMEN

OBJECTIVE: This study aimed to investigate the role of the Wnt/ß-catenin signaling pathway and E-cadherin/ß-catenin complex in intermittent cyclic mechanical tension (ICMT)-induced endplate cartilage degeneration. DESIGN: ß-Catenin expression was measured in disc samples obtained from patients with disc degeneration and those with cervical vertebrae fracture or dislocation. Histological staining was performed to examine the disc tissue morphology and extracellular matrix after application of ICMT in vitro and in vivo. Multiple strategies were employed to examine activation of Wnt/ß-catenin signaling after ICMT application in vivo and in vitro. Co-immunoprecipitation was performed to examine the interaction between E-cadherin and ß-catenin. Pathway-specific inhibitors and an E-cadherin expression plasmid were used to regulate Wnt/ß-catenin signaling and E-cadherin expression. RESULTS: ß-Catenin protein expression was elevated significantly, whereas cartilaginous genes were down-regulated in endplate cartilage samples obtained from patients with disc degeneration. ICMT loading led to Wnt/ß-catenin signaling activation and the loss of the chondrogenic phenotype of endplate chondrocytes in both an in vivo rabbit model and in vitro endplate chondrocyte culture system. Inhibition of Wnt/ß-catenin signaling suppressed the decrease in ICMT-induced cartilaginous gene expression. Furthermore, E-cadherin expression was inhibited by ICMT stimulation, resulting in a decrease in the interaction between E-cadherin and ß-catenin proteins. Over-expression of E-cadherin rescued the cartilaginous gene expression by enhancing the interaction between E-cadherin and ß-catenin proteins. CONCLUSIONS: ICMT promotes endplate cartilage degeneration via activation of Wnt/ß-catenin signaling and suppression of physical protein-protein interactions between E-cadherin and ß-catenin.


Asunto(s)
Cadherinas/genética , Cartílago Articular/metabolismo , Condrocitos/metabolismo , Degeneración del Disco Intervertebral/metabolismo , Disco Intervertebral/metabolismo , Estrés Mecánico , Proteínas Wnt/genética , Vía de Señalización Wnt/genética , beta Catenina/genética , Adulto , Animales , Western Blotting , Cadherinas/metabolismo , Estudios de Casos y Controles , Vértebras Cervicales/lesiones , Regulación hacia Abajo , Matriz Extracelular/metabolismo , Femenino , Expresión Génica , Humanos , Masculino , Persona de Mediana Edad , Presión , Conejos , Reacción en Cadena en Tiempo Real de la Polimerasa , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Fracturas de la Columna Vertebral , Proteínas Wnt/metabolismo , beta Catenina/metabolismo
16.
Genet Mol Res ; 14(4): 14216-28, 2015 Nov 13.
Artículo en Inglés | MEDLINE | ID: mdl-26600479

RESUMEN

The giant panda (Ailuropoda melanoleuca) is one of the world's most endangered mammals, and it has evolved several unusual biological and behavioral traits. During puberty, pregnancy, lactation, and involution, the mammary gland undergoes profound morphological and functional changes. A large number of microRNAs (miRNAs) have been identified to be involved in mammary gland development and lactation. In this study, we identified 202 conserved mature miRNAs, corresponding to 147 pre-miRNAs, in giant panda peripheral blood using a small RNA-sequencing approach. In addition, 27 miRNA families and 29 miRNA clusters were identified. We analyzed the arm selection preference of pre-miRNAs and found that: 1) most giant panda pre-miRNAs generated one-strand miRNAs, and the 5p-arm only miRNAs have a higher expression level than 3p-arm only miRNAs; 2) there were more 5p-arm dominant miRNAs than 3p-arm dominant miRNAs; and 3) 5p-arm dominant miRNAs have a larger fold change within miRNA pairs than 3p-arm dominant miRNAs. Expression of 12 lactation-related miRNAs was detected across late pregnancy and early lactation stages by qPCR, and seven miRNAs were identified as clustered in one significant model. Most of these clustered miRNAs exhibited inhibitory roles in proliferation and differentiation of mammary epithelial cells. Functional analysis highlighted important roles of the seven as signed miRNAs in mammary development and metabolic changes, including blood vessel morphogenesis, macromolecule biosynthesis, cell cycle regulation, and protein transport.


Asunto(s)
Lactancia/genética , Glándulas Mamarias Animales/fisiología , MicroARNs/sangre , Preñez/genética , Ursidae/genética , Animales , Femenino , Perfilación de la Expresión Génica/veterinaria , Glándulas Mamarias Animales/metabolismo , MicroARNs/genética , Embarazo , Preñez/sangre , Reacción en Cadena en Tiempo Real de la Polimerasa , Análisis de Secuencia de ARN/métodos , Maduración Sexual/genética , Ursidae/sangre
17.
Genet Mol Res ; 14(3): 10692-704, 2015 Sep 09.
Artículo en Inglés | MEDLINE | ID: mdl-26400299

RESUMEN

Argopecten purpuratus and Argopecten irradians irradians hybridization was successfully performed and the hybrid offspring displayed apparent heterosis in growth traits. To better understand the genetic basis of heterosis, the genomic composition and genetic variation of the hybrids were analyzed with amplified fragment length polymorphism (AFLP) and simple sequence repeat (SSR) markers. Seven of eight universal SSR primers displayed polymorphism in the hybrids and their parental groups, and hybrids inherited both parental geno-types at each locus. Using five primer combinations in AFLP analysis, 433 loci were amplified in the hybrids and their parental groups. The frequency of polymorphisms was 88.22%. F1 hybrids inherited 88.11 and 92.88% of AFLP bands from their parents. Some loci did not follow Mendelian Law, including 48 loci in parents that were lost, and 11 new loci that were amplified in the hybrids. The parameters of Nei's gene diversity, Shannon's Information index, genetic distance, and molecular variance between groups were calculated. The genetic differentiation between two hybrid groups (0.253) was smaller than that between hybrids and their parents (0.554 to 0.645), and was especially smaller than that between two parental groups (0.769). The high genetic similarity (0.9347) and low genetic differentiation (0.2531) between two hybrid groups suggests that these hybrid groups were genetically very close. Heterozygosities of hybrid groups were higher than those of parental groups, indicating that the hybrids had increased genetic diversity.


Asunto(s)
Sitios Genéticos , Genoma , Vigor Híbrido , Hibridación Genética , Pectinidae/genética , Análisis del Polimorfismo de Longitud de Fragmentos Amplificados , Animales , Cruzamientos Genéticos , Cartilla de ADN , Femenino , Marcadores Genéticos , Heterocigoto , Patrón de Herencia , Masculino , Repeticiones de Microsatélite , Pectinidae/clasificación , Filogenia , Polimorfismo Genético
18.
Genet Mol Res ; 14(2): 4269-75, 2015 Apr 28.
Artículo en Inglés | MEDLINE | ID: mdl-25966198

RESUMEN

We sought to investigate the effect of nerve growth factor (NGF) expression on the formation and prognosis of cerebral aneurysms. Forty-eight cases were selected following a diagnosis of cerebral aneurysm using computed tomography angiography and surgical confirmation. Thirty-four cases of healthy deaths were also chosen. The tissue was tested for NGF expression changes by reverse-transcription PCR, Western blot and histopathology, and NGF expression was compared between the cerebral aneurysm and healthy groups. The expression level of NGF in cerebral aneurysm tissue was significantly increased over that observed in control tissue. The abnormal expression of NGF is related to cerebral aneurysms. The elevated expression of NGF in cerebral aneurysms may be associated with a poor prognosis.


Asunto(s)
Angiografía Cerebral/métodos , Aneurisma Intracraneal/diagnóstico por imagen , Aneurisma Intracraneal/patología , Factor de Crecimiento Nervioso/metabolismo , Anciano , Femenino , Humanos , Aneurisma Intracraneal/mortalidad , Masculino , Persona de Mediana Edad , Factor de Crecimiento Nervioso/biosíntesis , Pronóstico , Tomografía Computarizada por Rayos X
19.
Genet Mol Res ; 14(2): 4276-81, 2015 Apr 28.
Artículo en Inglés | MEDLINE | ID: mdl-25966199

RESUMEN

We sought to investigate the relationship between abnormal expression of nitric oxide synthase (NOS) and pathogenesis of cerebral aneurysm. Brain tissues were collected from 36 patients with cerebral aneurysm confirmed by computer tomography with angiography or neurosurgical therapy. The control group consisted of 25 patients of similar age who had no vascular diseases, as confirmed by magnetic resonance imaging. Samples of cortical arterioles were collected. The structure of the aneurysms was detected by hematoxylin and eosin staining, and the expression of inducible NOS was detected by immunohistochemistry. NOS expression was significantly higher in the patient group than in the control group (patients: 30/36 strongly positive; control: 0/25 strongly positive; P < 0.05). In conclusion, the pathogenesis underlying cerebral aneurysm may be due to abnormal expression of NOS, degradation of the extracellular matrix, aggravation of a pro-inflammatory reaction, or a deficiency in arterial elasticity layer synthesis. These changes may result in a deficiency in vascular remodeling.


Asunto(s)
Angiografía Cerebral/métodos , Aneurisma Intracraneal/patología , Óxido Nítrico Sintasa de Tipo II/metabolismo , Óxido Nítrico/metabolismo , Adolescente , Adulto , Femenino , Humanos , Aneurisma Intracraneal/diagnóstico por imagen , Aneurisma Intracraneal/cirugía , Masculino , Persona de Mediana Edad , Óxido Nítrico Sintasa de Tipo II/biosíntesis , Tomografía Computarizada por Rayos X , Adulto Joven
20.
Genet Mol Res ; 14(1): 2322-30, 2015 Mar 27.
Artículo en Inglés | MEDLINE | ID: mdl-25867378

RESUMEN

Giant panda cubs have a low survival rate during the newborn and early growth stages. However, the growth and developmental parameters of giant panda cubs during the early lactation stage (from birth to 6 months) are not well known. We examined the growth and development of giant panda cubs by the Chapman growth curve model and estimated the heritability of the maximum growth rate at the early lactation stage. We found that 83 giant panda cubs reached their maximum growth rate at approximately 75-120 days after birth. The body weight of cubs at 75 days was 4285.99 g. Furthermore, we estimated that the heritability of the maximum growth rate was moderate (h(2) = 0.38). Our study describes the growth and development of giant panda cubs at the early lactation stage and provides valuable growth benchmarks. We anticipate that our results will be a starting point for more detailed research on increasing the survival rate of giant panda cubs. Feeding programs for giant panda cubs need further improvement.


Asunto(s)
Peso Corporal/genética , Patrón de Herencia , Ursidae/crecimiento & desarrollo , Ursidae/genética , Algoritmos , Animales , Animales Recién Nacidos , Femenino , Lactancia , Masculino , Modelos Genéticos
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