RESUMO
Repeated DNA elements have been extensively applied as physical chromosome markers in comparative studies for the identification of chromosomal rearrangements, the identification of sex chromosomes, chromosome evolution analysis and applied genetics. Here, we report the characterization of the transposable elements (TE) Tc1, Rex1, Rex3 and Rex6 and a new element called RCk in the genome of the South American cichlid fish Cichla kelberi using nucleotide sequence analysis and hybridization to metaphase chromosomes. The analysis of the repeated elements demonstrated that they are, in most cases, compartmentalized in heterochromatic regions, as has been observed in several other vertebrates. On the other hand, the elements Rex1 and Rex3 were also observed spanning extensive euchromatic regions on 2 chromosome pairs. The RCk element exhibits a wide distribution among fishes and also in amphibians, and it was spread throughout the chromosomes of C. kelberi. Our results have demonstrated that the compartmentalization of repeated elements is not restricted to heterochromatic segments, which has provided new concepts with regard to the genomic organization of transposons.
Assuntos
Ciclídeos/genética , Elementos de DNA Transponíveis , Genoma , Animais , Cromossomos , Análise Citogenética , DNA/química , DNA/genética , Filogenia , Mapeamento Físico do Cromossomo , Reação em Cadeia da Polimerase , Análise de Sequência de DNARESUMO
STUDY DESIGN: A prospective, non-randomized clinical series trial. OBJECTIVE: To evaluate the effect of autogenous undifferentiated stem cell infusion for the treatment of patients with chronic spinal cord injury (SCI) on somatosensory evoked potentials (SSEPs). SETTING: A public tertiary hospital in São Paulo, Brazil. METHODS: Thirty-nine consecutive patients with diagnosed complete cervical and thoracic SCI for at least 2 years and with no cortical response in the SSEP study of the lower limbs were included in the trial. The trial patients underwent peripheral blood stem cell mobilization and collection. The stem cell concentrate was cryopreserved and reinfused through arteriography into the donor patient. The patients were followed up for 2.5 years and submitted to SSEP studies to evaluate the improvement in SSEPs after undifferentiated cell infusion. RESULTS: Twenty-six (66.7%) patients showed recovery of somatosensory evoked response to peripheral stimuli after 2.5 years of follow-up. CONCLUSION: The 2.5-year trial protocol proved to be safe and improved SSEPs in patients with complete SCI. SPONSORSHIP: None.
Assuntos
Vias Aferentes/fisiologia , Potenciais Somatossensoriais Evocados/fisiologia , Regeneração Nervosa/fisiologia , Transplante de Células-Tronco de Sangue Periférico/métodos , Recuperação de Função Fisiológica/fisiologia , Traumatismos da Medula Espinal/cirurgia , Biomarcadores , Separação Celular/métodos , Eletrodiagnóstico/métodos , Eletrofisiologia , Feminino , Humanos , Masculino , Estudos Prospectivos , Córtex Somatossensorial/fisiologia , Traumatismos da Medula Espinal/diagnóstico , Traumatismos da Medula Espinal/fisiopatologia , Células-Tronco/citologia , Células-Tronco/fisiologia , Resultado do TratamentoRESUMO
STUDY DESIGN: Data mining of single nucleotide polymorphisms (SNPs) in gene pathways related to spinal cord injury (SCI). OBJECTIVES: To identify gene polymorphisms putatively implicated with neuronal damage evolution pathways, potentially useful to SCI study. SETTING: Departments of Psychiatry and Orthopedics, Faculdade de Medicina, Universidade de São Paulo, Brazil. METHODS: Genes involved with processes related to SCI, such as apoptosis, inflammatory response, axonogenesis, peripheral nervous system development and axon ensheathment, were determined by evaluating the 'Biological Process' annotation of Gene Ontology (GO). Each gene of these pathways was mapped using MapViewer, and gene coordinates were used to identify their polymorphisms in the SNP database. As a proof of concept, the frequency of subset of SNPs, located in four genes (ALOX12, APOE, BDNF and NINJ1) was evaluated in the DNA of a group of 28 SCI patients and 38 individuals with no SC lesions. RESULTS: We could identify a total of 95,276 SNPs in a set of 588 genes associated with the selected GO terms, including 3912 nucleotide alterations located in coding regions of genes. The five non-synonymous SNPs genotyped in our small group of patients, showed a significant frequency, reinforcing their potential use for the investigation of SCI evolution. CONCLUSION: Despite the importance of SNPs in many aspects of gene expression and protein activity, these gene alterations have not been explored in SCI research. Here we describe a set of potentially useful SNPs, some of which could underlie the genetic mechanisms involved in the post trauma spinal cord damage.
Assuntos
DNA/genética , Polimorfismo Genético , Traumatismos da Medula Espinal/genética , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Bases de Dados Genéticas/estatística & dados numéricos , Genótipo , Humanos , Adulto JovemRESUMO
Ahead of Print article withdrawn by publisher. Please see re-submitted article 'DNA polymorphisms as tools for spinal cord injury research' Spinal Cord advance online publication, 20 May 2008; doi:10.1038/sc.2008.67.
RESUMO
Pouchitis is the most frequent complication of ileal pouch-anal anastomosis for treatment of ulcerative colitis. There are several possible explanations. Among them, we focus on the one that considers pouchitis as an extracolonic manifestation of ulcerative colitis. The aim of this study was to investigate the association between pouchitis and extra-intestinal manifestations (EIM), which are frequent in these patients. Sixty patients underwent restorative proctocolectomy with an ileal J pouch (IPAA) from September 1984 to December 1998. Pouchitis was defined by clinical, endoscopic, and histologic criteria. The following extra-intestinal manifestations were studied: articular, cutaneous, hepatobiliary, ocular, genitourinary, and growth failure. Thirteen patients, of which 10 were female (76.9%), developed one or more episodes of pouchitis. Twelve patients of this group (92.3%) presented some kind of extra-intestinal manifestation, 4 pre-operatively (exclusively), 2 post-operatively (exclusively), and 6 both pre- and post-operatively (1.7 per patient). Twenty patients (42.7%) of the 47 without pouchitis did not present extra-intestinal manifestations; 10/35 (28. 5%) of females had pouchitis, compared to 3/35 (12.0%) of men. Pouchitis was more frequent among females, though not statistically significant. EIM increases the risk of pouchitis. Pouchitis is related to EIM in 92.3 % of cases, corroborating the hypothesis that it could be an extracolonic manifestation of ulcerative colitis.
Assuntos
Colite Ulcerativa/complicações , Pouchite/etiologia , Colite Ulcerativa/cirurgia , Feminino , Humanos , Masculino , Proctocolectomia Restauradora/efeitos adversosRESUMO
Sixty patients with Crohn's colitis were separated into 2 groups: A) without perianal lesions, 12 patients; B) with perianal lesions, 48 patients. The mean age at the beginning of symptomatology was 41.4 years in group A and 31.7 in B. The number of patients that underwent surgical treatment were similar in both groups. Fifty eight operations were performed in 29 patients, mean 0.33 operations/patient in group A and 2.16 in B. Ileal pouch anal anastomosis were performed in 5 patients, with loss of reservoir in one. There was no difference in need of hospitalization between the 2 groups. At mean follow-up of 8.9 years, 37 patients presented at least one extra-intestinal manifestation, 21 a perianal lesion, 39 were taking drugs and 31 were symptomatic. In the group of 31 patients that received only medical treatment, 24 (77.4%) are still on drugs and only 9 are assymptomatic. In the group of 29 patients that were operated on, 12 (41.4%) are taking drugs and 19 (65.5%) are assymptomatic. The difference concerning results of treatment between patients on medical treatment and operated were statistically significant. A permanent ileostomy was performed in 19(65.5%) patients. Two patients died during clinical treatment and one of postoperative complications.
Assuntos
Doença de Crohn/terapia , Adulto , Feminino , Seguimentos , Humanos , Masculino , Estudos Prospectivos , Qualidade de Vida , Resultado do TratamentoRESUMO
A psicose tem uma base biologica e a neurose e apreendida por metodos de condicionamento aversivo. Na base biologica dos aspectos devem ser considerados: a predisposicao genetica e anormalidades bioquimicas. Este trabalho e uma revisao sobre aspectos geneticos na etiologia de esquizofrenia com enfase no polimorfismo genetic