Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 27
Filtrar
Mais filtros

Base de dados
País/Região como assunto
Tipo de documento
País de afiliação
Intervalo de ano de publicação
1.
Surg Endosc ; 27(2): 518-24, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22806529

RESUMO

BACKGROUND: This study was designed to evaluate the feasibility and safety of total laparoscopic sigmoid and rectal surgery without abdominal incision in combination with transanal endoscopic microsurgery (TEM). METHODS: From May 2010 to October 2011, 34 patients with colon and rectal tumors were treated by total laparoscopic surgery without abdominal incision, and the clinical data of these patients were reviewed. RESULTS: All operations could be successfully accomplished without conversion to open surgery. No diverting ileostomy was created. The average operative time was 151.60 (range, 125-185) minutes. The average blood loss was 200.20 (range, 55-450) ml. All resection margins were negative. Six patients developed postoperative anastomotic leakage. There were no reports of other complications in all patients. CONCLUSIONS: This preliminary study indicated that total laparoscopic sigmoid and rectal surgery in combination with TEM was a safe, feasible, and minimally invasive technique. This advanced surgical technique was developed by combining laparoscopy with the concept of natural orifice transluminal endoscopic surgery.


Assuntos
Colo Sigmoide/cirurgia , Neoplasias Colorretais/cirurgia , Laparoscopia , Microcirurgia/métodos , Cirurgia Endoscópica por Orifício Natural , Reto/cirurgia , Adulto , Idoso , Canal Anal , China , Estudos de Viabilidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
2.
Asian J Androl ; 23(5): 510-515, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33762476

RESUMO

There are many unknown genetic factors that lead to infertility in nonobstructive azoospermia men. Here, we performed whole-exome sequencing in blood samples obtained from 40 azoospermia patients with meiotic arrest and found a novel c.151_154del (p.D51fs) frame-shift mutation in exon 3 of the testis expressed 11 (TEX11) gene in one patient. Sanger sequencing analysis of the patient and 288 fertile men was performed to validate the mutation. Immunohistochemical analysis showed TEX11 expression in late-pachytene spermatocytes and in round spermatids in fertile human testes. In contrast, testes of the patient with TEX11 mutation underwent meiotic arrest and lacked TEX11 expression. Western blotting of human embryonic kidney (HEK293) cells transfected with a vector for the p.D51fs TEX11 variant detected no TEX11 expression. In conclusion, we identified a novel frame-shift mutation in the TEX11 gene in an azoospermia patient, emphasizing that this gene should be included in genetic screening panels for the clinical evaluation of azoospermia patients.


Assuntos
Azoospermia/genética , Proteínas de Ciclo Celular/genética , Testes Genéticos , Humanos , Masculino , Meiose/genética , Meiose/fisiologia , Mutação/genética , Mutação/fisiologia
3.
Asian J Androl ; 23(2): 205-210, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-32859868

RESUMO

As a crucial transcription factor for spermatogenesis, GATA-binding protein 4 (GATA4) plays important roles in the functioning of Sertoli and Leydig cells. Conditional knockout of GATA4 in mice results in age-dependent testicular atrophy and loss of fertility. However, whether GATA4 is associated with human azoospermia has not been reported. Herein, we analyzed the GATA4 gene by direct sequencing of samples obtained from 184 Chinese men with idiopathic nonobstructive azoospermia (NOA). We identified a missense mutation (c.191G>A, p.G64E), nine single-nucleotide polymorphisms (SNPs), and one rare variant (c.*84C>T) in the 3´ untranslated region (UTR). Functional studies demonstrated that the p.G64E mutation did not affect transactivation ability of GATA4 for spermatogenesis-related genes (claudin-11 and steroidogenic acute regulatory protein, Star), and the 3´ UTR rare variant c.*84C>T did not generate microRNA-binding sites to repress GATA4 expression. To our knowledge, this is the first report to investigate the association between GATA4 and azoospermia; our results indicate that mutations in GATA4 may not be pathogenic for NOA in Chinese men.


Assuntos
Azoospermia/genética , Fator de Transcrição GATA4/genética , Adulto , Povo Asiático , China , Claudinas/genética , Análise Mutacional de DNA , Humanos , Masculino , Mutação de Sentido Incorreto , Fosfoproteínas/genética , Polimorfismo de Nucleotídeo Único , Ativação Transcricional/genética
4.
Behav Genet ; 40(3): 357-65, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-19941049

RESUMO

The catechol-O-methyltransferase (COMT) gene contains a functional polymorphism (Val158Met) affecting the activity of the enzyme, and the monoamine oxidase A (MAOA) gene contains a VNTR polymorphism (MAOA-uVNTR) that affects the transcription of the gene. COMT and MAOA each contribute to the enzymatic degradation of dopamine and noradrenaline. Prefrontal cortical (PFC) function, which plays an important role in individual cognitive abilities, including intelligence, is modulated by dopamine. Since our previous association studies between attention deficit hyperactivity disorder (ADHD) and these two functional polymorphisms consistently showed the low activity alleles were preferentially transmitted to inattentive ADHD boys, the goal of the present study was to test the hypothesis that the interaction between COMT Val158Met and MAOA-uVNTR may affect the intelligence in a clinical sample of Chinese male ADHD subjects (n = 264). We found that the COMT x MAOA interaction significantly predicted full scale (FSIQ) and performance (PIQ) IQ scores (P = 0.039, 0.011); the MAOA-uVNTR significantly predicted FSIQ, PIQ and verbal IQ (VIQ) (P = 0.009, 0.019, 0.038); COMT Val158Met independently had no effect on any of the IQ scores. Only the COMT x MAOA interaction for PIQ remained significant after a Bonferroni correction. Among all combined genotypes, the valval-3R genotype predicted higher intelligence, (average 106.7 +/- 1.6, 95% C.I. 103.7-109.8 for FSIQ), and the valval-4R predicted lower intelligence (average 98.0 +/- 2.3, 95% C.I. 93.5-102.6 for FSIQ). These results suggest that there is an inverted U-shaped relationship between intelligence and dopaminergic activity in our sample. Our finding that gene-gene interaction between COMT and MAOA predicts the intelligence of ADHD boys in China is intriguing but requires replication in other samples.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/etnologia , Transtorno do Deficit de Atenção com Hiperatividade/genética , Catecol O-Metiltransferase/genética , Epistasia Genética , Inteligência/genética , Repetições Minissatélites/genética , Monoaminoxidase/genética , Polimorfismo Genético , Adolescente , Criança , China , Dopamina/metabolismo , Genótipo , Humanos , Testes de Inteligência , Masculino
5.
Zhonghua Nan Ke Xue ; 16(10): 919-21, 2010 Oct.
Artigo em Zh | MEDLINE | ID: mdl-21243757

RESUMO

OBJECTIVE: To explore the use of L-carnitine before percutaneous epididymal sperm aspiration-intracytoplasmic sperm injection (PESA-ICSI) in the treatment of obstructive azoospermia. METHODS: Seventy-nine cases of obstructive azoospermia treated in our center from Sep 2008 to Aug 2009 were divided into an L-carnitine (n = 43) and a control group (n = 36), the former given oral L-carnitine at 1 g bid for 3 months before PESA-ICSI, while the latter left untreated. Comparisons were made between the two groups in the number of retrieved oocytes and fertilized oocytes as well as the number and rate of good embryos. RESULTS: There were no significant differences between the two groups in the number of retrieved oocytes and fertilized oocytes. But the number and rate of good embryos were significantly higher in the L-carnitine than in the control group (P < 0.05). CONCLUSION: Three-month oral medication of L-carnitine before PESA-ICSI can raise the number and rate of good embryos in obstructive azoospermia patients and therefore benefit the therapeutic outcome.


Assuntos
Azoospermia/terapia , Carnitina/uso terapêutico , Injeções de Esperma Intracitoplásmicas/métodos , Adulto , Carnitina/administração & dosagem , Epididimo , Humanos , Masculino , Resultado do Tratamento
6.
Asian J Androl ; 21(2): 137-142, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30520425

RESUMO

The purpose of this study was to determine the diagnostic accuracy of serum inhibin B (INHB) as a predictor of the retrieval outcome of testicular haploid gametes (spermatids and testicular spermatozoa) in nonobstructive azoospermic men. Serum hormone levels, testicular volume, and histological evaluation were performed in 403 Chinese nonobstructive azoospermic men. Testicular haploid gamete was successfully retrieved in 213 of 403 patients (52.85%). The haploid gamete group always had higher INHB levels than the non-haploid gamete group. According to the receiver operating characteristic (ROC) curve analysis, INHB was a good predictor of testicular haploid gamete retrieval outcome in all patients (sensitivity: 77.93% and specificity: 91.58%) and patients with normal follicle-stimulating hormone (FSH; sensitivity: 88.52% and specificity: 70.83%). The area under the ROC curve (AUC) of INHB was similar to that of FSH in all patients or patients with normal FSH. In patients with elevated FSH, INHB was superior to FSH in predicting the presence of haploid gamete (AUC: 0.73 vs 0.55, P < 0.05), with a sensitivity of 60.00% and a specificity of 80.28%. It concluded that serum INHB as an effective marker for spermatogenesis was a significant predictor of testicular haploid gamete retrieval outcomes in nonobstructive azoospermic men. Especially, INHB is superior to FSH in predicting the presence of haploid gamete in the patients with elevated FSH.


Assuntos
Azoospermia/sangue , Inibinas/sangue , Recuperação Espermática , Espermatogênese/fisiologia , Adulto , Hormônio Foliculoestimulante/sangue , Haploidia , Humanos , Masculino , Sensibilidade e Especificidade
7.
Asian J Androl ; 10(2): 227-35, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18097533

RESUMO

AIM: To investigate whether early apoptotic changes in spermatozoa can be significant markers for sperm quality. METHODS: Two early apoptotic changes in the semen of 56 men were assessed using Annexin V (AN)/propidium iodide (PI) staining for phosphatidylserine externalization and JC-1 staining for mitochondrial membrane potential (MMP). The results were compared with conventional semen parameters and DNA fragmentation identified using the TUNEL assay. RESULTS: The different labeling patterns in the bivariate Annexin V/PI analysis identified four distinctive spermatozoa populations. The percentage of AN(-)/PI(-) spermatozoa positively correlated with conventional semen parameters and MMP, but negatively correlated with TUNEL (+) spermatozoa. As for the AN(-)/PI(+) fraction, we found an opposite result in comparison to AN(-)/PI(-) spermatozoa. The level of early apoptotic AN(+)/PI(+) spermatozoa negatively correlated with MMP and sperm motility. The level of late apoptotic AN+/PI+ spermatozoa negatively correlated with conventional semen parameters and MMP, and positively correlated with TUNEL (+) spermatozoa. MMP positively correlated with conventional semen parameters, but negatively correlated with TUNEL (+) spermatozoa. CONCLUSION: Although early apoptotic AN+/PI(-) spermatozoa only negatively correlates with sperm motility, the differences in proportion of each subpopulation of spermatozoa (especially, the percentage of AN(-)/PI(-) spermatozoa), and decreased MMP might be significant markers for diagnosing male infertility. They possibly bring additional information to predict the outcome of in vitro fertilization.


Assuntos
Apoptose/fisiologia , Potencial da Membrana Mitocondrial/fisiologia , Sêmen/fisiologia , Espermatozoides/citologia , Espermatozoides/fisiologia , Adulto , DNA/fisiologia , Fragmentação do DNA , Humanos , Infertilidade Masculina/diagnóstico , Masculino
8.
Chin Med J (Engl) ; 131(15): 1808-1812, 2018 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-30058577

RESUMO

BACKGROUND: The 47,XYY syndrome could result in fertility problems. However, seldom studies reported comprehensive researches on the embryonic development and pregnancy outcomes of these patients. This study aimed to evaluate the clinical outcomes of nonmosaic 47,XYY patients performed with fluorescent in situ hybridization (FISH) and preimplantation genetic diagnosis (PGD) treatment. METHODS: This was a retrospective study. Between January 2012 and May 2017, 51 infertile males with nonmosaic 47,XYY syndrome underwent FISH-PGD were included in the study. According to sex chromosomal FISH results, embryos were classified as normal signal, no nuclei fixed, no signal in fixed nuclei, suspensive signal, and abnormal signal groups, respectively. The incidence of each group, the fixation rate, and hybridization rate were calculated. Embryonic development and pregnancy outcomes were also analyzed. The measurement data were analyzed with Student's t-test. The comparison of categorical data was analyzed with the Chi-square test and Fisher's exact test when expected cell count was <5. RESULTS: The 53 PGD cycles with 433 embryos were analyzed. The fixation rate was 89.6%, while the hybridization rate was 96.4%. There were 283 embryos with two sex chromosomal signals with clear diagnosis (65.4%). The numbers of no nuclei fixed, no signal in fixed nuclei, suspensive signal, and abnormal signal groups were 45 (10.4%), 14 (3.2%), 24 (5.5%), and 67 (15.5%), respectively. Embryos with abnormal signals were abandoned. The number of good-quality embryos was 210 (57.4%), including implanted embryos on day 4/day 5 and cryopreserved. The rates of good-quality embryos in the no nuclei fixed (22.2%), no signal in fixed nuclei (28.6%), and suspensive signal groups (33.3%) were comparable (P > 0.05), and were significantly lower than the normal signal group (66.4%, P < 0.001). The clinical pregnancy rates of fresh and frozen embryos transferred cycles were 70.6% and 85.7%, respectively. CONCLUSIONS: Among embryos with a clear diagnosis of sex chromosome, about one-fifth showed abnormal signals. Embryos with two sex chromosomal signals are more likely to develop into good-quality ones. The application of the PGD by FISH may help to improve the clinical outcome s.


Assuntos
Hibridização in Situ Fluorescente , Infertilidade Masculina/genética , Diagnóstico Pré-Implantação , Transtornos dos Cromossomos Sexuais/diagnóstico , Cariótipo XYY/diagnóstico , Feminino , Humanos , Masculino , Gravidez , Estudos Retrospectivos , Transtornos dos Cromossomos Sexuais/genética , Cariótipo XYY/genética
9.
Beijing Da Xue Xue Bao Yi Xue Ban ; 39(3): 237-40, 2007 Jun 18.
Artigo em Zh | MEDLINE | ID: mdl-17572776

RESUMO

OBJECTIVE: To investigate the relationship between three HTR4 gene polymorphisms, 83097 C>T, 83198 A>G as well as -36C>T polymorphisms, and attention deficit hyperactivity disorder (ADHD) comorbid or not comorbid disruptive behavioral disorder (DBD). METHODS: Blood samples were taken from 152 trios with probands of ADHD comorbid DBD and 173 trios with probands of ADHD not comorbid DBD. DNA was extracted. 83097 C>T, 83198 A>G and -36C>T were genotyped by restriction fragment length polymorphism analysis. Transmit/disequilibrium test and haplotype analysis were used to test the association of the three polymorphisms with ADHD comorbid or not comorbid DBD separately. RESULTS: Haplotype T/G/T showed tendency of over transmission (chi(2)=3.470,P=0.062) to probands of ADHD with DBD, while haplotype C/G/T (chi(2)=4.568,P=0.032) and C/G/C (chi(2)=5.333,P=0.021) were under transmitted to probands of ADHD without DBD, No biased transmissions of any allele were found in families with probands of ADHD with and without DBD. CONCLUSION: Whether ADHD comorbid DBD or not comorbid DBD makes difference at the level of HTR4 gene polymorphisms.


Assuntos
Transtornos de Deficit da Atenção e do Comportamento Disruptivo/genética , Polimorfismo Genético , Receptores 5-HT4 de Serotonina/genética , Adolescente , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/epidemiologia , Criança , Comorbidade , Feminino , Frequência do Gene , Genótipo , Humanos , Desequilíbrio de Ligação , Masculino
10.
Beijing Da Xue Xue Bao Yi Xue Ban ; 39(5): 535-8, 2007 Oct 18.
Artigo em Zh | MEDLINE | ID: mdl-17940576

RESUMO

OBJECTIVE: To investigate the relationship between two HTR1D gene polymorphisms, 1350T>C and 1236A>G polymorphisms, and attention deficit hyperactivity disorder (ADHD) comorbid or not comorbid learning disorder (LD). METHODS: Blood samples were taken from 91 trios with probands of ADHD comorbid LD and 181 trios with probands of ADHD not comorbid LD. DNA was extracted. 1350T>C and 1236A>G were genotyped by restriction fragment length polymorphism analysis. Transmit/disequilibrium test and haplotype analysis were used to test the association between the two polymorphisms of HTR1D gene and ADHD comorbid or not comorbid LD separately. RESULTS: 1236A allele (chi2=5.306, P=0.021) was over transmitted to probands of ADHD without LD. No biased transmissions of any allele and haplotype were found in families with probands of ADHD with LD. CONCLUSION: whether ADHD comorbid LD or not comorbid LD makes difference at the level of HTR1D gene polymorphism of 1236A>G.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/genética , Deficiências da Aprendizagem/genética , Receptor 5-HT1D de Serotonina/genética , Adolescente , Alelos , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Criança , Comorbidade , Feminino , Frequência do Gene , Genótipo , Haplótipos , Humanos , Deficiências da Aprendizagem/epidemiologia , Masculino , Polimorfismo Genético
11.
Asian J Androl ; 19(5): 521-525, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-27345004

RESUMO

Semen from 5210 sperm bank donors was analyzed and trends in semen quality were evaluated at Shandong Human Sperm Bank between 2008 and 2014. After 2-7 days of abstinence, semen samples were collected. Measurements of semen volume, sperm concentration, sperm forward motility, and total sperm count were performed. There were significant declining trends in semen volume, sperm concentration, sperm forward motility, and total sperm count. Our results indicate that the quality of semen in this cohort of sperm donors had decreased during the study period.


Assuntos
Análise do Sêmen/estatística & dados numéricos , Análise do Sêmen/tendências , Bancos de Esperma/estatística & dados numéricos , Adulto , Povo Asiático , China , Estudos de Coortes , Humanos , Estudos Longitudinais , Masculino , Estudos Retrospectivos , Contagem de Espermatozoides , Motilidade dos Espermatozoides , Doadores de Tecidos , Adulto Jovem
12.
Beijing Da Xue Xue Bao Yi Xue Ban ; 38(5): 492-5, 2006 Oct 18.
Artigo em Zh | MEDLINE | ID: mdl-17068621

RESUMO

OBJECTIVE: To investigate the relationship between two HTR1D gene polymorphisms, that is 1350T > C and 1236A > G polymorphisms, and attention deficit hyperactivity disorder (ADHD) comorbid or not comorbid disruptive behavior disorder (DBD). METHODS: Blood samples were taken from 90 trios with probands of ADHD comrbid DBD and 182 trios with probands of ADHD not comorbid DBD. DNA was extracted. 1350T > C and 1236A > G were genotyped by restriction fragment length polymorphism analysis. Transmit/disequilibrium test and haplotype analysis were used to test the association of the two polymorphisms of HTR1D gene and ADHD comorbid or not comorbid disruptive behavior disorder (DBD) separately. RESULTS: 1350T allele(chi2 = 3.67, P = 0.055)and G/T haplotype(chi2 = 3.84, P = 0.050)were overtransmitted, while 1350C allele(chi2 = 3.67, P = 0.055) and G/C haplotype(chi2 = 5.22, P = 0.022)were undertransmitted to probands of ADHD with DBD. No biased transmission of any allele and haplotype was found in families with probands of ADHD without DBD. CONCLUSION: ADHD comorbid or not comorbid DBD are different at the level of HTR1D gene polymrohisms of 1350T > C and 1236A > G. The current results indicate that ADHD with DBD has more heritable backgrounds when compared with ADHD without DBD.


Assuntos
Transtornos de Deficit da Atenção e do Comportamento Disruptivo/epidemiologia , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/genética , Polimorfismo Genético/genética , Adolescente , Adulto , Criança , China/epidemiologia , Comorbidade , Feminino , Frequência do Gene , Genótipo , Haplótipos , Humanos , Desequilíbrio de Ligação , Masculino , Núcleo Familiar , Receptor 5-HT1D de Serotonina
13.
Beijing Da Xue Xue Bao Yi Xue Ban ; 36(4): 366-9, 2004 Aug 18.
Artigo em Zh | MEDLINE | ID: mdl-15303127

RESUMO

OBJECTIVE: To investigate the relationship between two HTR2C gene polymorphisms, that is C-759T and G-697C polymorphisms, and attention deficit hyperactivity disorder (ADHD) comorbid or not comorbid learning disorder (LD). METHODS: Blood samples were taken from 189 trios with probands of ADHD comorbid LD (ADHD+LD) and 299 trios with probands of ADHD not comorbid LD (ADHD-LD). DNA was extracted and PCR was performed to amplify the fragments containing both C-759T and G-697C polymorphisms. Aci I was used to detect different alleles of the two polymorphisms. Allele- based and haplotype- based TDT analysis were used to test the association of the two polymorphisms of HTR2C gene and ADHD-LD and ADHD+LD. RESULTS: -759C(chi(2)=6.961, P=0.008), -697G(chi(2)=8.346, P=0.004), as well as -759C/-697G haplotype were over- transmitted(chi(2)=9.000, P=0.002 7), while haplotype -759T/-697C was under- transmitted(chi(2)=7.784, P=0.005 3) to probands with ADHD-LD. No biased transmission of any allele and haplotype were found in families with probands of ADHD+LD. CONCLUSION: ADHD-LD and ADHD+LD are different at the level of HTR2C gene polymrohisms of C-759T and G-697C. HTR2C is related to ADHD-LD, while not related to ADHD+LD.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/genética , Deficiências da Aprendizagem/complicações , Polimorfismo Genético , Receptor 5-HT2C de Serotonina/genética , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Criança , Feminino , Frequência do Gene , Genótipo , Haplótipos , Humanos , Desequilíbrio de Ligação , Masculino , Escalas de Graduação Psiquiátrica
14.
Beijing Da Xue Xue Bao Yi Xue Ban ; 36(3): 290-3, 2004 Jun 18.
Artigo em Zh | MEDLINE | ID: mdl-15205702

RESUMO

OBJECTIVE: To study the association of dopamine beta-hydroxylase gene 5' flanking region polymorphism-1021 C-->T with attention deficit hyperactivity disorder (ADHD) in Han children. METHODS: ADHD was diagnosed according to the DSM-IV criteria. DNA was extracted and PCR was performed to examine the DBH-1021C-->T polymorphism. HHRR was used to test the association of dopamine beta-hydroxylase gene with different subtypes of ADHD. RESULTS: HHRR results showed this polymorphism had a tendency to be associated with the inattention subtype (P=0.067) and the combined subtype (P=0.076). The T allele was the protective factor of the inattentive subtype (P=0.07), and the risk factor of the combined subtype (P=0.08). After dividing the 292 nuclear families according to sex, DBH-1021C-->T polymorphism was found to be associated with the combined subtype (P=0.04) with the T allele as the risk factor (P=0.02). There were no positive findings among the girl nuclear families of ADHD. CONCLUSION: DBH gene is related to ADHD combined subtype and inattention subtype. The genetic basis of ADHD combined subtype and is inattention is different, and is influenced by sex factor.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/genética , Dopamina beta-Hidroxilase/genética , Polimorfismo Genético , Adolescente , Criança , Feminino , Genótipo , Humanos , Masculino , Núcleo Familiar , Fatores Sexuais
15.
Zhonghua Yi Xue Za Zhi ; 83(24): 2114-8, 2003 Dec 25.
Artigo em Zh | MEDLINE | ID: mdl-14720417

RESUMO

OBJECTIVE: To investigate the relationship between two tryptophan hydroxylasec (TPH) gene polymorphisms, A218C and A-6526G polymorphisms, and attention deficit hyperactivity disorder (ADHD) with or without learning disorder (LD). METHODS: Blood samples were taken from 132 trios with probands of ADHD with LD and 221 trios with probands of ADHD without LD. DNA was extracted and PCR was performed to amplify the fragments of A218C amd A-6526G polymorphisms. NheI and MboI were used to detect different alleles of the two polymorphisms separately. transmission disequilibriumtest (TDT) and haplotype analysis were used to test the association of the two polymorphisms of TPH gene and ADHD with or without LD. RESULTS: Haplotype block composed by A218C and A-6526G polymorphisms was related to ADHD with LD (chi(2) = 9.362, df = 3, P = 0.025). The haplotype of 218A/-6526G was significantly untransmitted to the probands with ADHD with LD (chi(2) = 9.252, df = 1, P = 0.002). CONCLUSION: TPH gene and the haplotype of 218A/-6526G may be related to ADHD with LD.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/genética , Deficiências da Aprendizagem/genética , Polimorfismo Genético , Triptofano Hidroxilase/genética , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/enzimologia , Criança , Feminino , Haplótipos , Humanos , Deficiências da Aprendizagem/enzimologia , Masculino
16.
CNS Neurosci Ther ; 20(12): 1036-44, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25399812

RESUMO

AIMS: To explore the effect of fucoidan treatment on oxidative stress-mediated dopaminergic neuronal damage and its potential mechanisms. METHODS: The effect of fucoidan was investigated in a 6-hydroxydopamine (6-OHDA) rat model of PD, an animal model considered appropriate for preclinical studies of PD therapy. The effects of fucoidan treatment on animal behavior and the survival ratio of dopaminergic neurons were investigated. We further observed the effect of fucoidan on microglia and the NADPH oxidases-1 (Nox1), a family of enzymes generating reactive oxygen species (ROS). RESULTS: We found that chronic fucoidan administration mitigated the motor dysfunction induced by 6-OHDA. Similarly, fucoidan reduced the loss of DA neurons in the SNc and DA fibers in the striatum in 6-OHDA-lesioned rats. Moreover, we found that fucoidan inhibited the 6-OHDA-stimulating expression of Nox1 in both tyrosine hydroxylase (TH)-positive neurons and non-TH-positive neurons, prevented Nox1-sensitive oxidative stress and cell damage in SNc neurons. Fucoidan also effectively inhibited nigral microglial activation. CONCLUSION: These results support the beneficial effect of fucoidan in 6-OHDA-lesioned rat model of PD. Fucoidan may suppress the Nox1-triggered oxidative stress in the SNc to protect DA neurons from 6-OHDA-induced toxicity and achieve its beneficial effect.


Assuntos
Adrenérgicos/toxicidade , Antiparkinsonianos/uso terapêutico , NADH NADPH Oxirredutases/metabolismo , Oxidopamina/toxicidade , Doença de Parkinson/etiologia , Polissacarídeos/uso terapêutico , Análise de Variância , Animais , Antígeno CD11b/metabolismo , Modelos Animais de Doenças , Regulação da Expressão Gênica/efeitos dos fármacos , Masculino , Microglia/efeitos dos fármacos , Microglia/metabolismo , NADPH Oxidase 1 , Proteínas do Tecido Nervoso/metabolismo , Neurônios/efeitos dos fármacos , Neurônios/metabolismo , Estresse Oxidativo/efeitos dos fármacos , Doença de Parkinson/patologia , Ratos , Ratos Sprague-Dawley , Substância Negra/efeitos dos fármacos , Substância Negra/metabolismo , Tirosina 3-Mono-Oxigenase/metabolismo
17.
J Invest Surg ; 26(4): 217-22, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23273177

RESUMO

BACKGROUND: The aim of this study is to investigate the long-term therapeutic outcome of intersphincteric resection (ISR) as the treatment of ultra-low rectal cancer. METHODS: During January 2004 and October 2010, ISR was performed in 60 patients with ultra-low rectal cancer and their survival, local recurrence, and functional outcome were evaluated retrospectively. RESULTS: A total of 60 patients with tumors at a median distance of 42 (range 30-50) mm from the anal verge underwent ISR. Three cases developed anastomotic leakage and two cases developed anastomotic stenosis postoperatively. After a median follow-up of 49 (range 18-90) months, local and distant recurrence occurred in six and four patients, respectively. Five-year overall and disease-free survival rates were 90.0% and 83.3%. Among them, the functional results of 53 patients suggested the mean stool frequency were 3.8 ± 1.3 (range 3-10) per 24 hr. According to Kirwan classification, good continence was shown in 73.6% of the patients. CONCLUSION: This preliminary study indicated that ISR might be a candidate technique in treating patients with ultra-low rectal cancer and achieved satisfactory long-term results in functional and oncologic respects.


Assuntos
Adenocarcinoma/cirurgia , Canal Anal/cirurgia , Neoplasias Retais/cirurgia , Adulto , Idoso , Defecação , Intervalo Livre de Doença , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Complicações Pós-Operatórias , Estudos Retrospectivos , Taxa de Sobrevida , Resultado do Tratamento
18.
World J Gastroenterol ; 19(8): 1299-305, 2013 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-23483639

RESUMO

AIM: To investigate the feasibility and long-term functional outcome of ileal pouch-anal anastomosis with modified double-stapled mucosectomy. METHODS: From January 2002 to March 2011, fourty-five patients underwent ileal pouch anal anastomosis with modified double-stapled mucosectomy technique and the clinical data obtained for these patients were reviewed. RESULTS: Patients with ulcerative colitis (n = 29) and familial adenomatous polyposis (n = 16) underwent ileal pouch-anal anastomosis with modified double-stapled mucosectomy. Twenty-eight patients underwent one-stage restorative proctocolectomy, ileal pouch anal anastomosis, protective ileostomy and the ileostomy was closed 4-12 mo postoperatively. Two-stage procedures were performed in seventeen urgent patients, proctectomy and ileal pouch anal anastomosis were completed after previous colectomy with ileostomy. Morbidity within the first 30 d of surgery occurred in 10 (22.2%) patients, all of them could be treated conservatively. During the median follow-up of 65 mo, mild to moderate anastomotic narrowing was occurred in 4 patients, one patient developed persistent anastomotic stricture and need surgical intervention. Thirty-five percent of patients developed at least 1 episode of pouchitis. There was no incontinence in our patients, the median functional Oresland score was 6, 3 and 2 after 1 year, 2.5 years and 5 years respectively. Nearly half patients (44.4%) reported "moderate functioning", 37.7% reported "good functioning", whereas in 17.7% of patients "poor functioning" was observed after 1 year. Five years later, 79.2% of patients with good function, 16.7% with moderate function, only 4.2% of patients with poor function. CONCLUSION: The results of ileal pouch anal anastomosis with modified double-stapled mucosectomy technique are promising, with a low complication rate and good long-term functional results.


Assuntos
Polipose Adenomatosa do Colo/cirurgia , Canal Anal/cirurgia , Colite Ulcerativa/cirurgia , Bolsas Cólicas , Ileostomia , Íleo/cirurgia , Mucosa Intestinal/cirurgia , Proctocolectomia Restauradora , Grampeamento Cirúrgico , Adolescente , Adulto , Idoso , Anastomose Cirúrgica , China , Estudos de Viabilidade , Feminino , Humanos , Ileostomia/efeitos adversos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/cirurgia , Reoperação , Estudos Retrospectivos , Grampeamento Cirúrgico/efeitos adversos , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
19.
Asian J Endosc Surg ; 6(3): 177-80, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23509955

RESUMO

INTRODUCTION: Colorectal adenoma is a recognized precancerous lesion that has the potential for malignant transformation. Surgical resection of colorectal adenomas is required for exact diagnosis and treatment. The aim of this study is to assess the safety and therapeutic effect of transanal endoscopic microsurgery for preoperatively diagnosed colorectal adenomas. METHODS: From September 2006 to February 2011, 45 patients with preoperatively diagnosed colon and rectal adenomas underwent transanal endoscopic microsurgery. The clinical data of these patients were reviewed. RESULTS: The mean tumor diameter was 2.2 cm, mean operative time was 65 min, and the mean estimated blood loss was less than 10 mL. There was no conversion to transabdominal procedure. The mean tumor distance from the anal verge was 8.2 cm. Four patients had perforation into the peritoneal cavity during full-thickness resection; these were repaired by continuous suturing, and there was no postoperative leakage after 1 week of fasting. The surgical margins of specimens were negative in 44 patients. Complications included rectal bleeding in one patient, acute urinary retention in one patient and pulmonary infection in one patient. The mean postoperative hospital stay was 4.5 days. Only one patient experienced incontinence of hard stool 6 months after surgery. The patients were followed up for a median period of 42 months, with four cases of tumor recurrence observed. CONCLUSION: Transanal endoscopic microsurgery is a safe and effective technique for excising large adenomas in the mid and upper rectum and in the lower sigmoid colon. It is also an oncologically preferred method for T1 focal carcinomas that develop from villous adenomas.


Assuntos
Adenoma/cirurgia , Canal Anal/cirurgia , Neoplasias do Colo/cirurgia , Microcirurgia , Cirurgia Endoscópica por Orifício Natural , Neoplasias Retais/cirurgia , Adenoma/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , China , Neoplasias do Colo/patologia , Feminino , Humanos , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Duração da Cirurgia , Neoplasias Retais/patologia , Estudos Retrospectivos , Resultado do Tratamento
20.
J Invest Surg ; 26(4): 180-5, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23514051

RESUMO

BACKGROUND: The incidence of inflammatory bowel disease (IBD) has risen rapidly in China over the last 15 years. Increasing numbers of people with IBD require surgery during their lifetime, but few reports of IBD in Eastern populations have been described to date. The aim of this study was to assess the short-term effects of the laparoscopic surgery for IBD in Chinese patients. MATERIALS AND METHODS: From February 2010 to March 2012, 35 patients with IBD underwent laparoscopic operations and the clinical data obtained for these patients were reviewed. RESULTS: Patients with Crohn's disease (CD) (N = 21) and ulcerative colitis (UC) (N = 14) underwent laparoscopic surgery. In the CD group, the mean age was 37.4 years. Two patients (9.5%) required conversion to an open procedure. The median length of postoperative hospitalization was 9 (7-40) days. Overall morbidity was 26.3% and no patients required re-operation. In the UC group, the mean age was 55.2 years. The conversion rate was 14.3% (2/14). The median time to regular diet was 4 (3-10) days and the median length of postoperative hospitalization was 8 (7-25) days. Four patients developed postoperative complications and one patient developed ileostomy retraction requiring urgent operative intervention to rebuild the stoma. CONCLUSIONS: Laparoscopic surgery in patients with IBD can be accomplished safely and with reasonable operative times, conversion rates and morbidity rates. The main advantages of the laparoscopic approach are rapid recovery, improved cosmesis, less postoperative pain, and patient satisfaction.


Assuntos
Colite Ulcerativa/cirurgia , Doença de Crohn/cirurgia , Laparoscopia/métodos , Adulto , China/epidemiologia , Colite Ulcerativa/epidemiologia , Doença de Crohn/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Estudos Retrospectivos , Resultado do Tratamento
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA