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1.
Beijing Da Xue Xue Bao Yi Xue Ban ; 54(1): 54-61, 2022 Feb 18.
Artículo en Zh | MEDLINE | ID: mdl-35165468

RESUMEN

OBJECTIVE: To compare the clinicopathologic features and prognosis of the different types of fibrous dysplasia (FD) of cranio-maxillofacial region, so as to provide a new reference for clinicians to treat these patients and make prognostic judgement. METHODS: Clinical records, radiographic data and pathological information of 105 patients diagnosed with FD or McCune-Albright syndrome (MAS) at the Department of Oral Pathology, Peking University Hospital of Stomatology from January 2013 to December 2020 were collected. The patients were divided into 4 groups: monostotic FDs, polyostotic FDs, MAS and a specific type called craniofacial fibrous dysplasia (CFD) limited in the craniofacial region. The clinicopathological characteristics, treatment and follow-up data of each type were analyzed. RESULTS: Of all the 105 patients, 46 were males and 59 were females, with a male-to-female ratio of 1 ∶1.3. The onset age ranged from 0 to 56 years and the median age was 12 years. On the basis of different involvement conditions, 4 types were divided. The most common type was monostotic FDs (43 cases, 40.95%), including maxilla (29 cases), mandibular (12 cases) and zygoma (2 cases). 32 cases (30.48%) were diagnosed with polyostotic FDs, 7 cases (6.67%) were MAS, and 23 cases (21.90%) were CFDs confirmed by computed tomography (CT) analysis. CFD was clearly distinct from other types of FD, such as the patient gender and the serum alkaline phosphatase level in peripheral blood before operative surgery. The pathologic findings of various types FD were quite similar, whilst the predominant fibrous tissue hyperplasia could be observed in polyostotic FDs and MAS types. CONCLUSION: The clinicopathologic features of FD in the cranio-maxillofacial region are different from the FD lesions in other parts of the body. The clinicopathological features of CFD are significantly different from those of monostotic and polyostotic FDs in the cranio-maxillofacial region. Therefore, the clinicians should pay attention to distinguish CFD in clinic, imaging and pathology aspects, so as to further clarify its features in clinic management and prognosis.


Asunto(s)
Displasia Fibrosa Poliostótica , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Mandíbula , Persona de Mediana Edad , Pronóstico , Tomografía Computarizada por Rayos X , Adulto Joven
2.
Beijing Da Xue Xue Bao Yi Xue Ban ; 52(1): 35-42, 2020 Feb 18.
Artículo en Zh | MEDLINE | ID: mdl-32071461

RESUMEN

OBJECTIVE: To investigate the clinicopathologic features and prognostic factors in odontogenic keratocyst (OKC), and to provide new reference for clinic treatment and management of these patients. METHODS: Clinicopathological data of 844 cases initially diagnosed as or associated with OKC at Department of Oral Pathology, Peking University Hospital of Stomatology from 2000 to 2018 were collected. The cases were divided into 4 groups: sporadic OKCs (intraosseous, cystic lesion irrelevant to nevoid basal cell carcinoma syndrome), syndromic OKCs, solid OKCs and peripheral OKCs. The patients were follow-up for 6 to 216 months and the factors that might relate to recurrence were analyzed. RESULTS: There were 805 cases (95.4%) of sporadic OKCs, 32 cases (3.8%) of syndromic OKCs, 3 cases of solid OKCs and 4 cases of peripheral OKCs. The main age of sporadic OKCs was 36.03 years with the peak at the second and third decades. Ratio of male and female was 1.27:1. The predilection site was the molar and ramus area of mandibular (56.2%). In the study, 428 cases (71.2%) were unilocular in radiography while 28.8% were multilocular. The recurrent rate of enucleation with the follow-up was 20.1% (118/588) while most of them occurred in 1-3 years after surgery. The recurrent rate of multilocular patients (39.0%) was significantly higher than that of the unilocular. Enucleation after marsupialization (43 cases) or enucleation only (545 cases) showed no difference in recurrence (P>0.05). The syndromic OKCs was younger (main 20.97) and preferred to be multiple compared with sporadic OKCs (30/32, 93.7%). The predilection site was also molar and ramus area of mandibular (41.7%). Age and gender distribution of multiple cases had no significant difference with those in sporadic OKCs. More daughter cysts and epithelial islands were seen (56.3% and 17.9%). Furthermore, the recurrent rate was significantly higher than that of the sporadic OKCs (13/29, 44.9%). But there was no evidence of recurrent-related factors. The age of solid and peripheral OKCs, averaged at 45.00 and 65.75 years, were older than others. Four of peripheral OKCs showed no recurrence after enucleation. CONCLUSION: The recurrence rate of sporadic OKCs after enucleation is 20.1%. The multilocular lesions prefer to be recurrent. There is no significant difference of recurrence with enucleation only or enucleation after marsupialization. Compared with sporadic OKCs, the syndromic patients are younger and easier to be multiple. It tends to be recurrent frequently and rapidly. There are no related factors about recurrence of syndromic patients. The clinicians should considerate comprehensively and make an individual management of therapy and follow-up. Solid and peripheral OKCs are rare and older.


Asunto(s)
Quistes Odontogénicos , Tumores Odontogénicos , Femenino , Humanos , Masculino , Mandíbula , Recurrencia Local de Neoplasia , Recurrencia , Estudios Retrospectivos
3.
J Anim Physiol Anim Nutr (Berl) ; 101(1): 96-104, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-27045856

RESUMEN

This study was conducted to evaluate the effect of reduced dietary protein level on growth performance, muscle mass weight, free amino acids (FAA) and gene expression profile of selected amino acid transceptors in different fibre type of skeletal muscle tissues (longissimus dorsi, psoas major, biceps femoris) of growing pigs. A total of 18 cross-bred growing pigs (Large White × Landrace × Duroc) with initial body weight (9.57 ± 0.67 kg) were assigned into three dietary treatments: 20% crude protein (CP) diet (normal recommended, NP), 17% CP diet (low protein, LP) and 14% CP diet (very low protein, VLP). The results indicated improved feed-to-gain ratio was obtained for pigs fed LP and NP diets (p < 0.01), while the pigs fed VLP diet showed the worst growth performance (p < 0.01). There was no significant difference in the weights of longissimus dorsi and psoas major muscle between LP and NP groups (p > 0.05). Majority of the determined FAA concentration of LP group were greater than or equal to those of NP group in both longissimus dorsi and psoas major muscle (p < 0.01). Further, the mRNA expression levels of sodium-coupled neutral amino acid transceptor 2, L-type amino acid transceptor 1 and proton-assisted amino acid transceptors 2 were higher in skeletal muscle tissue in LP group compared to those of the pigs fed NP or VLP diet. These results suggested that reduced dietary protein level (3 points of percentage less than recommended level) would upregulate the mRNA expression of amino acid transceptors to enhance the absorption of FAA in skeletal muscle of growing pigs. There seems to be a relationship between response of AA transceptors to the dietary protein level in skeletal muscle tissue of different fibre type. To illustrate the underlying mechanisms will be beneficial to animal nutrition.


Asunto(s)
Aminoácidos/metabolismo , Proteínas en la Dieta/administración & dosificación , Receptores de Aminoácidos/metabolismo , Porcinos/crecimiento & desarrollo , Transcriptoma , Alimentación Animal/análisis , Fenómenos Fisiológicos Nutricionales de los Animales , Animales , Dieta/veterinaria , Regulación del Desarrollo de la Expresión Génica/efectos de los fármacos , ARN Mensajero/genética , ARN Mensajero/metabolismo , Receptores de Aminoácidos/genética , Porcinos/metabolismo
4.
Int J Immunogenet ; 43(3): 151-8, 2016 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-27122304

RESUMEN

Interleukin-21 (IL-21), as a multifunctional cytokine, plays an important role in many diseases, such as cancer, inflammatory and autoimmune diseases. We aimed to investigate the relationship between polymorphisms of IL-21 gene and susceptibility of hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC) in a Chinese population. Studied subjects were divided into three groups: 100 patients with HBV-related HCC, 115 patients with chronic HBV infection and 127 healthy controls. Genomic DNA was isolated from peripheral blood, and the polymerase chain reaction-ligase detection reaction (PCR-LDR) method was used to genotype the SNPs (rs2221903, rs907715 and rs12508721) within IL-21 gene. Our results showed that IL-21 polymorphisms were associated with the risk of HCC and chronic HBV infection when compared with healthy controls. The rs2221903A/G AG genotype was associated with a higher risk of chronic HBV infection when compared with healthy controls [AG versus AA + GG, P = 0.036, OR = 1.898, 95%CI = 1.038-3.471]. The rs12508721C/T TT genotype was related with a lower risk of chronic HBV infection and HBV-related HCC than in healthy controls [TT versus CT + CC, P = 0.026, OR = 0.451, 95%CI = 0.221-0.920; P = 0.049, OR = 0.482, 95%CI = 0.231-1.005]. No significant difference in the genotype and allele distrubutions of rs907715G/A SNP was observed in the HBV-related HCC group, chronic HBV-infected group and the healthy control group when compared to each other. Our findings suggest that the rs12508721T/C and rs2221903A/G polymorphisms of IL-21 gene are associated with the susceptibility of HBV-related HCC and chronic HBV infection. The genetic variant may in fact cause protection against the HBV-related HCC. However, the function in these SNPs of IL-21 gene needs to clarify the mechanisms involved in the pathogenesis of HBV-related HCC further.


Asunto(s)
Carcinoma Hepatocelular/genética , Hepatitis B Crónica/genética , Interleucinas/genética , Neoplasias Hepáticas/genética , Adulto , Anciano , Alelos , Carcinoma Hepatocelular/complicaciones , Carcinoma Hepatocelular/patología , Carcinoma Hepatocelular/virología , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Virus de la Hepatitis B/patogenicidad , Hepatitis B Crónica/complicaciones , Hepatitis B Crónica/virología , Humanos , Neoplasias Hepáticas/complicaciones , Neoplasias Hepáticas/patología , Neoplasias Hepáticas/virología , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple
5.
Cell Mol Biol (Noisy-le-grand) ; 61(8): 123-7, 2015 Dec 30.
Artículo en Inglés | MEDLINE | ID: mdl-26718440

RESUMEN

CpfS1 Gene cloned from arabidopsis thaliana was expressed in Escherichia coli DH5α. A cDNA fragment about 320 bp was amplified from the total RNA of arabidopsis thaliana seeds by reverse transcription PCR (RT-PCR) with a pair of specific primers based on the sequences of the AtCpfS1 gene. The recombinant prokaryotic expression vector pET30a-AtCpfS1 was constructed by inserting the cDNA fragment encoding the mature peptide into the prokaryotic expression vector pET30a, and then transformed into E. coli DH5α. Sequence analysis showed that the fragment length was 346 bp containing a full coding region of 332 bp encoding 76 amino acid residues with a molecular mass of 21.5 kD. The SDS-PAGE electrophoresis analysis showed that the best expression was induced by 21oC and 3.6×10-3 mol/L IPTG, under which a relative molecular weight of 82.5 kD recombinant protein was produced. The nickel chelating resin was used to purify the protein in size exclusion chromatography (SEC) and the results indicated that AtCpfS1 protein was present in the form of tetramer.


Asunto(s)
Proteínas de Arabidopsis/genética , Arabidopsis/genética , Proteínas de Homeodominio/genética , Semillas/genética , Factores de Transcripción/genética , Secuencia de Aminoácidos , Arabidopsis/metabolismo , Proteínas de Arabidopsis/metabolismo , Clonación Molecular , ADN Complementario/genética , ADN Complementario/metabolismo , Escherichia coli/genética , Escherichia coli/metabolismo , Expresión Génica , Proteínas de Homeodominio/metabolismo , Datos de Secuencia Molecular , Peso Molecular , Sistemas de Lectura Abierta , Plásmidos/química , Plásmidos/metabolismo , Multimerización de Proteína , Proteínas Recombinantes/genética , Proteínas Recombinantes/metabolismo , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Semillas/metabolismo , Factores de Transcripción/metabolismo
6.
Cell Mol Biol (Noisy-le-grand) ; 61(2): 60-3, 2015 May 16.
Artículo en Inglés | MEDLINE | ID: mdl-26025404

RESUMEN

SEPALLATA3 (SEP3) can be attributed to E class gene of the ABCE model of floral organ development. In order to reveal how SEP3 proteins form polymers, and the relationship between the polymers and their biological functions, the experiments of Arabidopsis thaliana AtSEP3 protein soluble expression in vitro were performed to construct a vector of prokaryotic expression, and investigate induced expression of recombinant proteins in Escherichia coli cells. The protein soluble expression was analyzed through the aspects of different protein domains, induction time, induction temperature, etc. Different structural domains and expression conditions were screened, and 0.1% IPTG inducing at 22 oC for 15 h was estimated as an optimal expression strategy. The nickel chelating resin was used to purify the protein in size exclusion chromatography (SEC) and the results indicated that AtSEP3 protein was present in the form of tetramer.

7.
Oral Dis ; 21(2): 170-7, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-24581331

RESUMEN

OBJECTIVES: Investigate the role of the epithelial-mesenchymal interaction of keratocystic odontogenic tumor (KCOT) in influencing osteoclastogenesis. MATERIALS AND METHODS: Fibroblasts isolated from KCOT fibrous capsule and normal gingival mucosa were, respectively, co-cultured with human immortalized oral epithelial cells (HIOECs), and the supernatant was collected to make conditioned medium, in which the osteoclastogenesis of osteoclast precursor cell line Raw 264.7 was observed. Genes related to bone resorption (RANKL, OPG, COX-2, and M-CSF) were analyzed by real-time PCR. Antibodies against human sRANKL and inhibitor of COX-2: NS398 were added to conditioned medium to investigate the inhibitory effect on osteoclastogenesis. RESULTS: Compared with co-cultured gingival fibroblasts and HIOECs (GE-CM), the conditioned medium from co-cultured KCOT fibroblasts and HIOECs (KE-CM) induced more osteoclast-like cell formation and increased NFATC1 mRNA in Raw264.7 cells (P < 0.05). Co-cultured KCOT fibroblasts (KF) and HIOECs, respectively, expressed more COX-2 mRNA than the co-cultured gingival fibroblasts (GF) and HIOECs (P < 0.05). While the ratio of RANKL/OPG in HIOECs co-cultured with KF was also significantly higher than that co-cultured with GF (P < 0.05). The anti-human sRANKL antibody in KE-CM inhibited osteoclastogenesis of Raw264.7 cells; however, NS398 displayed little inhibition. CONCLUSION: An interesting phenomenon of osteoclastogenic effect of KE-CM in vitro was investigated, which suggested an indispensable role of epithelial-mesenchymal interaction of KCOT in its bone destruction. It could be at least partly attributed to the up-regulated ratio of RANKL/OPG in epithelium induced by KCOT fibroblasts, the aggressiveness of tumor as result of epithelial-mesenchymal interaction deserves exploration further.


Asunto(s)
Comunicación Celular/fisiología , Fibroblastos/patología , Tumores Odontogénicos/patología , Osteoclastos/patología , Animales , Resorción Ósea/genética , Diferenciación Celular/efectos de los fármacos , Técnicas de Cocultivo , Células Epiteliales/metabolismo , Células Epiteliales/patología , Fibroblastos/metabolismo , Encía/metabolismo , Encía/patología , Humanos , Ratones , Tumores Odontogénicos/metabolismo , Osteoblastos/metabolismo , Osteoblastos/patología , Osteoclastos/efectos de los fármacos , Osteoclastos/metabolismo , Ligando RANK/genética , Ligando RANK/metabolismo , Células RAW 264.7 , Regulación hacia Arriba
8.
Dis Esophagus ; 28(2): 164-71, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25714851

RESUMEN

The microsomal epoxide hydrolase 1 (EPHX1) Tyr113His and His139Arg polymorphisms have been reported to be associated with esophageal cancer (EC) risk, yet the results of these previous results have been inconsistent or controversial. The objective of this study was to explore whether the EPHX1 Tyr113His and His139Arg polymorphisms confer risk to EC. The relevant studies were identified through a search of PubMed, Excerpta Medica Database (Embase), Elsevier Science Direct, and Chinese Biomedical Literature Database until May 2013. The association between the EPHX1 Tyr113His and His139Arg polymorphisms and EC risk was pooled by odds ratios (ORs) together with their 95% confidence intervals (95%CIs). A total of eight case-control studies with 1163 EC patients and 1868 controls (seven studies for both Tyr113His and His139Arg polymorphisms, one study only for Tyr113His polymorphism) were eventually identified. We found no association between EPHX1 Tyr113His and His139Arg polymorphisms and EC risk in overall population (For Tyr113His: His vs. Tyr: OR = 1.05, 95%CI = 0.95-1.15, P = 0.379; His/His vs. Tyr/Tyr: OR = 1.04, 95%CI = 0.88-1.22, P = 0.208; His/Tyr vs. Tyr/Tyr: OR = 0.96, 95%CI = 0.80-1.15, P = 0.577; His/His vs. His/Tyr + Tyr/Tyr: OR = 1.10, 95%CI = 0.96-1.26, P = 0.164; His/His + His/Tyr vs. Tyr/Tyr: OR = 1.01, 95%CI = 0.90-1.12, P = 0.543. For His139Arg: Arg vs. His: OR = 1.04, 95%CI = 0.94-1.14, P = 0.465; Arg/Arg vs. His/His: OR = 1.06, 95%CI = 0.91-1.24, P = 0.470; Arg/His vs. His/His: OR = 1.03, 95%CI = 0.91-1.16, P = 0.673; Arg/Arg vs. Arg/His + His/His: OR = 1.04, 95%CI = 0.85-1.27, P = 0.708; Arg/Arg + Arg/His vs. His/His: OR = 1.02, 95%CI = 0.93-1.13, P = 0.617). In subgroup analysis based on ethnicity, significant association has been found in neither EPHX1 Tyr113His nor His139Arg polymorphism. The current meta-analysis suggests no evidence of association between the EPHX1 polymorphism and EC risk.


Asunto(s)
Epóxido Hidrolasas/genética , Neoplasias Esofágicas/genética , Polimorfismo Genético , Estudios de Casos y Controles , Predisposición Genética a la Enfermedad , Humanos , Riesgo
9.
Genet Mol Res ; 14(3): 7771-81, 2015 Jul 14.
Artículo en Inglés | MEDLINE | ID: mdl-26214458

RESUMEN

Microarray technology is a powerful tool for human genetic research and other biomedical applications. Numerous improvements to the standard K-means algorithm have been carried out to complete the image segmentation step. However, most of the previous studies classify the image into two clusters. In this paper, we propose a novel K-means algorithm, which first classifies the image into three clusters, and then one of the three clusters is divided as the background region and the other two clusters, as the foreground region. The proposed method was evaluated on six different data sets. The analyses of accuracy, efficiency, expression values, special gene spots, and noise images demonstrate the effectiveness of our method in improving the segmentation quality.


Asunto(s)
Algoritmos , Procesamiento de Imagen Asistido por Computador , Análisis de Secuencia por Matrices de Oligonucleótidos/métodos , Análisis por Conglomerados , Bases de Datos Genéticas , Regulación de la Expresión Génica , Humanos
10.
Oral Dis ; 19(2): 162-8, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-22816774

RESUMEN

OBJECTIVES: To investigate the growth characteristics and effects on osteoclastogenesis in fibroblasts isolated from keratocystic odontogenic tumor (KCOT) fibrous capsule. MATERIALS AND METHODS: Fibroblasts isolated from KCOT fibrous capsule and normal gingival mucosa were cultured in vitro. Their colony-forming units and proliferative activity were investigated, and the osteoclastogenic effects were also observed by a co-culture system with osteoclast precursor cell line Raw264.7. The mRNA of several genes related to bone resorption (IL-6, VEGF, COX-2, and M-CSF) was analyzed by real-time PCR. RESULTS: Keratocystic odontogenic tumor fibroblasts developed fewer CFU and had longer population doubling time than gingival fibroblasts (P < 0.05). In contrast to gingival fibroblasts, KCOT fibroblasts expressed less IL-6, COX-2, and M-CSF (P < 0.05); however, the Raw264.7 co-cultured with KCOT fibroblasts developed more osteoclast-like cells and expressed higher level of nfatc1 than that co-cultured with gingival fibroblasts. Increased COX-2 expression and VEGF expression were detected in KCOT fibroblasts and Raw264.7 co-culture system (P < 0.05). CONCLUSION: Although KCOT fibroblasts showed lower level of cell proliferation than gingival fibroblasts, higher osteoclastogenic ability was detected when co-cultured with Raw264.7. These results suggest that the cell-cell interaction in the co-culture system, possibly by increasing COX-2 and VEGF expression, may be responsible for the increased osteoclastogenic effects of KCOT fibroblasts.


Asunto(s)
Fibroblastos/fisiología , Osteoclastos/citología , Diferenciación Celular , Proliferación Celular , Células Cultivadas , Encía/citología , Humanos , Quistes Odontogénicos/patología , Tumores Odontogénicos/patología
11.
Int J Clin Pract ; 67(6): 536-43, 2013 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-23557493

RESUMEN

INTRODUCTION: Conflicting results exist now on the clinical utility of renin-angiotensin system (RAS) inhibitors in patients with atrial fibrillation (AF). This study aimed to elaborate the efficacy and safety of RAS blockade on preventing the relapse of AF by a meta-analysis based on randomised controlled trials (RCTs). METHODS: We searched Medline, ISI web of science and Cochrane databases through Jan 2012. We included RCTs comparing RAS inhibition treatment vs. placebo or alternative therapy after cardioversion of persistent AF or conventional medical therapy for paroxysmal AF and reporting outcome of recurrent AF. Odds ratios (OR) were calculated using a random effects model. RESULTS: Fifteen trials involving 3972 AF patients were included in the analysis. The pooling analysis showed that RAS inhibitors significantly reduced the recurrence of AF compared with non-RAS inhibitors (OR=0.50, 95% CI: 0.37-0.69, p<0.01), and the beneficial effect was shown consistently both in patients with paroxysmal and in those with persistent AF after cardoversion. However, administration of RAS inhibitors did not provide a greater survival advantage and a lower incidence of adverse effects than the control (OR=1.17, 95% CI, 0.65-2.10, p=0.59; OR=0.94, 95% CI: 0.65-1.35, p=0.73 respectively). In addition, clinical factors potentially affecting AF relapsing had no pronounced impacts on the above clinical outcomes. CONCLUSIONS: Based on the currently available data, inhibition of RAS is effective, safe and well tolerated for preventing the recurrence of AF.


Asunto(s)
Antagonistas de Receptores de Angiotensina/uso terapéutico , Inhibidores de la Enzima Convertidora de Angiotensina/uso terapéutico , Antiarrítmicos/uso terapéutico , Fibrilación Atrial/prevención & control , Cardioversión Eléctrica , Anciano , Terapia Combinada , Quimioterapia Combinada , Femenino , Humanos , Masculino , Persona de Mediana Edad , Sesgo de Publicación , Ensayos Clínicos Controlados Aleatorios como Asunto , Prevención Secundaria , Resultado del Tratamiento
12.
Genet Mol Res ; 12(4): 6512-20, 2013 Dec 11.
Artículo en Inglés | MEDLINE | ID: mdl-24390997

RESUMEN

The purpose of this study was to detect chromosomal aberrations and azoospermia factor (AZF) microdeletions in male patients with reproductive problems and to summarize related clinical features to provide reliable information for evaluating prenatal and preimplantation diagnoses. A large cohort of 5083 men with various phenotypes of male infertility was analyzed via G-banding karyotyping, and Origin 8.0 was used to analyze the prevalence of abnormalities. Additionally, patients with azoospermia, oligozoospermia, and oligoasthenozoospermia were analyzed using multiplex polymerase chain reaction to detect microdeletion in the AZF. We identified 387 patients with abnormal karyotypes, and the ratio was 7.61%. Among them were 175 patients with Klinefelter's syndrome, which was the most common numerical chromosomal abnormality and accounted for 45.22% of all chromosomal aberrations. The frequencies of increased satellites, balanced translocations, and Robertsonian translocations were 6.47, 7.00, and 3.62%, respectively. Multiplex polymerase chain reaction performed in 810 cases with azoospermia, oligozoospermia, and oligoasthenozoospermia found a ratio of AZF microdeletions of 4.94%. The finding suggests that chromosomal abnormalities and AZF deletion are main factors that result in male infertility. Detecting these common genetic variations is necessary in infertile men seeking assisted reproductive technology.


Asunto(s)
Azoospermia/genética , Infertilidad Masculina/genética , Síndrome de Klinefelter/genética , Oligospermia/genética , Aberraciones Cromosómicas Sexuales , China/epidemiología , Cromosomas Humanos Y/genética , Proteínas de Unión al ADN/genética , Humanos , Infertilidad Masculina/epidemiología , Cariotipificación , Masculino , Reacción en Cadena de la Polimerasa , Diagnóstico Prenatal , Técnicas Reproductivas Asistidas , Eliminación de Secuencia/genética
13.
Genet Mol Res ; 12(1): 59-66, 2013 Jan 22.
Artículo en Inglés | MEDLINE | ID: mdl-23359025

RESUMEN

The non-recombining portion of the Y-chromosome contains numerous polymorphisms; therefore, it is now the most informative haplotyping system with wide-ranging applications. Idiopathic azoospermia and oligospermia are among the most important causes of male infertility. Different haplogroups may have different genetic backgrounds, which may be either susceptible or unsusceptible to idiopathic azoospermia or oligospermia. This study investigated the possible association between Y-chromosome haplogroup distribution and susceptibility to spermatogenic impairment. Peripheral blood was collected from 193 men with normozoospermia, 193 men with idiopathic azoospermia and 105 men with idiopathic oligospermia. All of the subjects underwent karyotyping, azoospermia factor (AZF) deletion analysis by 15 AZF-specific sequence-tagged sites and Y-chromosome haplotype analysis by 17 binary markers. Excluding men with AZF deletions and abnormal karyotypes, the remainder of these 3 groups was named Group i, Group ii, and Group iii, respectively. The comparisons of 17 Y-haplogroup distributions between Group i and Group ii, Group iii or Group ii + iii were performed with the SPSS V.18.0 software. Significantly different Y-haplogroup distributions were observed between Group i and Group ii in N1* (P = 0.002), between Group i and Group iii in F*, K*, P*, and O3* (P = 0.002, 0.001, 0.004, and 0.007, respectively), and between Group i and Group ii + iii in K*, N1* and O3* (P = 0.008, 0.012, and 0.009, respectively). These results suggest that Y-chromosome haplogroups play a role in spermatogenic impairment.


Asunto(s)
Pueblo Asiatico/genética , Azoospermia/genética , Cromosomas Humanos Y , Infertilidad Masculina/genética , Espermatogénesis/genética , China , Deleción Cromosómica , Predisposición Genética a la Enfermedad , Haplotipos , Humanos , Cariotipificación/métodos , Masculino , Oligospermia/genética
14.
Zhonghua Kou Qiang Yi Xue Za Zhi ; 57(2): 149-154, 2022 Feb 09.
Artículo en Zh | MEDLINE | ID: mdl-35152650

RESUMEN

Objective: To detect the SMO mutations in odontogenic keratocyst (OKC) and to explore the mechanism behind. Methods: Patients with OKC who received treatment in the Department of Oral and Maxillofacial Surgery, School and Hospital of Stomatology,Peking University, from September 2012 to June 2017 were enrolled. OKC samples from 10 patients diagnosed as naevoid basal cell carcinoma syndrome (NBCCS)-related OKC (4 females and 6 males) and 20 patients diagnosed as sporadic OKC (7 females and 13 males) were collected. Genomic DNAs were extracted from fibrous capsules and epithelial lining respectively. SMO mutations were detected and analyzed by Sanger sequencing. Results: Three SMO mutations were found in one NBCCS-associated OKC who carrying c.2081C>G (p.P694R) mutation) and two sporadic OKC who carrying c.907C>T (p.L303F) mutation and c.1247_1248delinsAA (p.G416E), respectively), among which the first two mutations were novel mutations that had not been reported before. Besides, two mutations in sporadic OKC were not paired with PTCH1 mutations. Conclusions: In addition to PTCH1 gene mutations, SMO gene mutations also exist in OKC which might be related to the development of OKC.


Asunto(s)
Síndrome del Nevo Basocelular , Quistes Odontogénicos , Tumores Odontogénicos , Síndrome del Nevo Basocelular/genética , Femenino , Humanos , Masculino , Mutación , Quistes Odontogénicos/genética , Tumores Odontogénicos/genética , Receptor Smoothened/genética
15.
J Anim Physiol Anim Nutr (Berl) ; 94(2): 220-6, 2010 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-19175452

RESUMEN

Experiments were conducted to determine the effects of feeding different starch sources on piglets. Four diets were formulated with maize, brown rice, sticky rice and Hi-Maize 1043 as starch sources, with resistant starch (RS) contents of 2.3%, 0.9%, 0.0%, 20.6%, and amylose and amylopectin ratio of 0.23%, 0.21%, 0.18%, 0.06% respectively. Fifty-six pigs weaned at 28 days of age were randomly assigned to one of the four diets. In Exp. 1, six piglets in each group were fitted with an indwelling jugular catheter. After 25 days of feeding trial, venous blood samples were obtained at time zero and every 1 h for 4 h. In Exp. 2, the remaining piglets were used to determine the effects of different starch sources on the fractional synthesis rate (FSR). The results indicated that feeding the Hi-Maize 1043 diet decreased (p < 0.05) plasma contents of glucose, insulin, lactic acid and T(3), while sticky rice increased plasma contents of glucose and insulin. The insulin contents in piglets fed the sticky rice diet was 69.2 microIU/ml at 1 h post-feeding which was highest among the starch diets. The FSR in the pancreas, spleen, duodenum, jejunum, ileum and colon in the corn group were much higher (p < 0.05) than that in the sticky rice group. These results suggest that RS is potentially beneficial for improving insulin sensitivity in young pigs and that the ratio of amylose and amylopectin have significantly effects on the FSR in splanchnic tissues in weaned piglets. Another finding of this study indicated maize with a ratio of amylose and amylopectin of 0.23 has the best starch sources for pig production.


Asunto(s)
Amilopectina/análisis , Amilosa/análisis , Alimentación Animal/análisis , Biosíntesis de Proteínas/efectos de los fármacos , Almidón/farmacología , Vísceras/metabolismo , Amilopectina/farmacología , Amilosa/farmacología , Fenómenos Fisiológicos Nutricionales de los Animales , Animales , Glucemia , Dieta/veterinaria , Hormonas/sangre , Ácido Láctico/sangre , Oryza , Almidón/química , Porcinos , Zea mays
16.
Amino Acids ; 37(2): 263-70, 2009 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-18622730

RESUMEN

Two experiments were conducted to evaluate the effects of dietary supplementation with Astragalus polysaccharide (APS) on growth performance, apparent ileal digestibilities (AID) of amino acids (AA), and their serum concentrations in early weaned piglets. In Exp. 1, 60 pigs were weaned at 21 days of age (BW 7.35 +/- 0.23 kg) and allocated to three treatments (20 pigs/treatment), representing supplementing 0.0% (control), 0.02% colistin (antibiotic), or 0.1% APS to a corn- and soybean meal-based diet. Average daily gain (ADG), average daily feed intake (ADFI), and feed/gain ratio (F/G) were measured weekly. Blood samples were obtained from five pigs selected randomly from each treatment for the measurement of serum free AA concentrations on days 7, 14, and 28. In Exp. 2, 12 pigs were weaned at 21 day of age (BW 7.64 +/- 0.71 kg), assigned to three treatment groups as in Exp. 1, and surgically fitted with a simple T-cannula at the terminal ileum. Ileal digesta samples were obtained for the measurement of AID of AA on days 7, 14 and 28. Dietary APS did not affect ADFI, but enhanced (P < 0.05) ADG by 11 and 4.4%, and improved F/G by 5.6 and 8.4%, respectively, compared with the control and antibiotic groups. Addition of APS to the diet increased AID and serum concentrations of most nutritionally essential and non-essential AA (including arginine, proline, glutamate, lysine, methionine, tryptophan, and threonine) on days 14 and 28. Circulating levels of total AA were affected by the age of pigs and treatment x time interaction. Collectively, these findings indicate that APS may ameliorate the digestive and absorptive function and regulate AA metabolism to beneficially increase the entry of dietary AA into the systemic circulation, which provide a mechanism to explain the growth-promoting effect of APS in early weaned piglets.


Asunto(s)
Aminoácidos/metabolismo , Planta del Astrágalo/química , Suplementos Dietéticos , Digestión/fisiología , Íleon/metabolismo , Polisacáridos , Porcinos , Alimentación Animal , Animales , Humanos , Valor Nutritivo , Polisacáridos/administración & dosificación , Polisacáridos/metabolismo , Distribución Aleatoria , Destete
17.
Amino Acids ; 37(4): 573-82, 2009 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-18763018

RESUMEN

This study was designed to determine the effect of ultra-fine Chinese herbal powder as a dietary additive on serum concentrations and apparent ileal digestibilities (AID) of amino acids (AA) in young pigs. In Experiment 1, 60 Duroc x Landrace x Yorkshire piglets weaned at 21 days of age were randomly assigned to one of three treatments, representing supplementation with 0 or 2 g/kg of the powder, or 0.2 g/kg of colistin (an antibiotic) to corn- and soybean meal-based diets (n = 20 per group). Blood samples from five piglets per group were collected on days 7, 14, and 28 to determine serum AA concentrations. In Experiment 2, 12 barrows with an average initial body weight of 7.64 kg were randomly assigned to one of the three dietary treatments, followed by surgical placement of a simple T-cannula at the terminal ileum. All of the diets contained 0.1% titanium oxide as a digestibility marker. The samples of terminal ileal digesta were collected on day 7 for determining AID of AA. Results show that dietary supplementation with the herbal powder increased (P < 0.05) serum concentrations and AID of most AA by 10-50% and 10-16%, respectively. As an indicator of improved intestinal function, AID values of calcium were also enhanced in piglets supplemented with the herbal powder. Dietary supplementation of colistin increased serum concentrations and AID values of some AA by 8-44% and 10-15%, respectively, in comparison with the non-supplemented group. These novel findings demonstrate that the herbal powder can enhance the digestibility of dietary protein and the intestinal absorption of AA into the systemic circulation in post-weaning pigs, therefore providing a new mechanism for its growth- and immunity-promoting efficacy.


Asunto(s)
Aminoácidos/sangre , Suplementos Dietéticos , Digestión/fisiología , Medicamentos Herbarios Chinos/administración & dosificación , Íleon/fisiología , Animales , Antibacterianos/administración & dosificación , Colistina/administración & dosificación , Digestión/efectos de los fármacos , Íleon/efectos de los fármacos , Polvos/administración & dosificación , Porcinos
18.
Zhonghua Wei Chang Wai Ke Za Zhi ; 22(8): 796-800, 2019 Aug 25.
Artículo en Zh | MEDLINE | ID: mdl-31422622

RESUMEN

The insufficiency of the examined number of lymph nodes after surgery for gastric cancer may undermine the stage of lymph node metastasis, which would have a significant impact on prognostic evaluation and strategy formulation of adjuvant therapy. Under the premise of standard D2 lymphadenectomy, the number of harvested lymph nodes is mainly dependent on the procedures of lymph node examination. Since 2013, our center has set up a special lymph node examination team. In the same year, the average number of harvested lymph nodes in each sample was 46, which was significantly higher than before (average 18 nodes/case in 2004-2012). After continuous quality improvement and regular quality control in 2014, average number of retrieved lymph nodes was 64 per specimen. Therefore, this paper summarizes the methods and experience of lymph node examination in gastric cancer specimens of general surgery in Southern Hospital. The overall construction of the lymph node examination team of gastric cancer in our center mainly includes three parts: establishment of a specialized lymph node examination team, effective standard operating procedures (SOP), and long-term and sustained quality control. The specialized lymph node examination team consists of postgraduate students who are not involved in surgery but have been trained by surgeons. Standard procedures include theoretical reserve of gastric anatomy, surgical observation to correspond to specimens in vitro and in vivo, and standardized specimen processing procedures. Long-term and sustained quality control requires periodic report of lymph node examination data and continuous feedback optimization of the process. Intraoperative lymph node tracing navigation and specimen lymph node intensification are carried out with nanocarbon and indocyanine green dye staining, and then lymph nodes are harvested based on the traditional methods, which can improve the examination rate of lymph nodes, especially for small lymph nodes. Research on lymph node tracing methods, requires multidisciplinary cooperation in particular, will become a hot topic.


Asunto(s)
Gastrectomía/métodos , Técnicas Histológicas/normas , Escisión del Ganglio Linfático/normas , Ganglios Linfáticos/patología , Neoplasias Gástricas/patología , Neoplasias Gástricas/cirugía , Gastrectomía/normas , Técnicas Histológicas/métodos , Humanos , Escisión del Ganglio Linfático/métodos , Ganglios Linfáticos/cirugía , Metástasis Linfática , Estadificación de Neoplasias , Pronóstico , Calidad de la Atención de Salud
19.
J Dent Res ; 87(6): 575-9, 2008 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-18502968

RESUMEN

UNLABELLED: Keratocystic odontogenic tumors (KCOTs, previously known as odontogenic keratocysts) are aggressive jaw lesions that may occur in isolation or in association with nevoid basal cell carcinoma syndrome (NBCCS). Mutations in the PTCH1 (PTCH) gene are responsible for NBCCS and are related in tumors associated with this syndrome. Mutations in the SMO gene have been identified in basal cell carcinoma and in medulloblastoma, both of which are features of NBCCS. To clarify the role of PTCH1 and SMO in KCOTs, we undertook mutational analysis of PTCH1 and SMO in 20 sporadic and 10 NBCCS-associated KCOTs, and for SMO, 20 additional cases of KCOTs with known PTCH1 status were also included. Eleven novel (1 of which occurred twice) and 5 known PTCH1 mutations were identified. However, no pathogenic mutation was detected in SMO. Our findings suggest that mutations are rare in SMO, but frequent in PTCH1 in sporadic and NBCCS-associated KCOTs. ABBREVIATIONS: NBCCS, nevoid basal cell carcinoma syndrome; KCOTs, keratocystic odontogenic tumors; BCCs, basal cell carcinomas.


Asunto(s)
Síndrome del Nevo Basocelular/complicaciones , Neoplasias Maxilomandibulares/genética , Tumores Odontogénicos/genética , Receptores de Superficie Celular/genética , Receptores Acoplados a Proteínas G/genética , Adolescente , Adulto , Anciano , Síndrome del Nevo Basocelular/genética , Niño , Análisis Mutacional de ADN , Femenino , Humanos , Neoplasias Maxilomandibulares/complicaciones , Queratinas , Masculino , Persona de Mediana Edad , Mutación , Tumores Odontogénicos/complicaciones , Receptores Patched , Receptor Patched-1 , Receptor Smoothened
20.
Cochrane Database Syst Rev ; (1): CD005656, 2008 Jan 23.
Artículo en Inglés | MEDLINE | ID: mdl-18254088

RESUMEN

BACKGROUND: Macular edema is secondary to leakage from diseased retinal capillaries and is an important cause of poor central visual acuity in patients with diabetic retinopathy. OBJECTIVES: This review evaluated the effectiveness and safety of intraocular steroids in treating diabetic macular edema (DME). SEARCH STRATEGY: We searched CENTRAL, MEDLINE, EMBASE in June 2007, reference lists, Science Citation Index and conference proceedings. SELECTION CRITERIA: We included randomized clinical trials (RCTs) evaluating any form of intravitreal steroids for treating DME. DATA COLLECTION AND ANALYSIS: Two authors independently assessed eligibility, methodological quality and extracted data. We performed meta-analyses when appropriate. MAIN RESULTS: Seven studies, involving 632 DME eyes were included. Four examined the effectiveness of intravitreal triamcinolone acetate injection (IVTA), three examined intravitreal steroids implantation (fluocinolone acetonide implant (FAI) or dexamethasone drug delivery system (DDS)). Two trials were at low risk of bias, one was at median risk of bias, two were at high risk of bias and the remaining two were at unclear risk of bias. The preponderance of data suggest a beneficial effect from IVTA. Comparing IVTA with controls, the mean difference in visual acuity was -0.15 LogMAR (95% CI -0.21 to -0.09) at 3 months (based on three trials), -0.23 LogMAR (95% CI -0.33 to -0.13) at 6 months (two trials), -0.29 LogMAR (95% CI -0.47 to -0.11) at 9 months (one trial), and -0.11 LogMAR (95% CI -0.20 to -0.03) at 24 months (one trial), all in favor of IVTA. The relative risk (RR) for one or more lines improvement in visual acuity was 2.85 (95% CI 1.59 to 5.10) at 3 months (two trials), 1.25 (95% CI 0.66 to 2.38) at 6 months (one trial), and 2.17 (95% CI 1.15 to 4.11) at 24 months (one trial), all in favor of IVTA. We did not find evidence for three or more lines improvement in visual acuity. The mean difference in retinal thickness was -131.97 um (95% CI -169.08 to -94.86) at 3 months (two trials), -135.00 um (95% CI -194.50 to -75.50) at 6 months (one trial), -133.00 um (95% CI -199.86 to -66.14) at 9 months (one trial), and -59.00 um (95% CI -103.50 to -14.50) at 24 months (one trial), all in favor of IVTA. The RR for at least one grade macular edema resolution was 5.15 (95% CI 2.23 to 11.88) at 3 months in favor of IVTA (one trial). Two trials reported improved clinical outcome when FAI was compared to standard of care. Beneficial effect was also observed in one dexamethasone DDS trial. Increased intraocular pressure and cataract formation were side effects requiring monitoring and management. AUTHORS' CONCLUSIONS: RCTs included in this review suggest that steroids placed inside the eye by either intravitreal injection or surgical implantation may improve visual outcomes in eyes with persistent or refractory DME. Since the studies in our report focused on chronic or refractory DME, the question arises whether intravitreal steroids therapy could be of value in other stages of DME, especially the earlier stages either as standalone therapy or in combination with other therapies, such as laser photocoagulation.


Asunto(s)
Antiinflamatorios/administración & dosificación , Retinopatía Diabética/complicaciones , Edema Macular/tratamiento farmacológico , Esteroides/administración & dosificación , Dexametasona/administración & dosificación , Implantes de Medicamentos , Fluocinolona Acetonida/administración & dosificación , Glucocorticoides/administración & dosificación , Humanos , Inyecciones/métodos , Edema Macular/etiología , Ensayos Clínicos Controlados Aleatorios como Asunto , Triamcinolona/administración & dosificación , Agudeza Visual/efectos de los fármacos , Cuerpo Vítreo
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