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1.
Zhongguo Dang Dai Er Ke Za Zhi ; 26(1): 48-53, 2024 Jan 15.
Artigo em Zh | MEDLINE | ID: mdl-38269459

RESUMO

OBJECTIVES: To investigate the clinical characteristics and risk factors of delayed bleeding after intestinal polypectomy in children, and to provide a theoretical basis for clinical surgical intervention of intestinal polyps. METHODS: A retrospective analysis was conducted on the clinical data of 2 456 children with intestinal polyps who underwent endoscopic high-frequency electrocoagulation loop resection in the Endoscopy Center of Children's Hospital Affiliated to Zhengzhou University from January 2014 to December 2021. According to the presence or absence of delayed bleeding after surgery, they were divided into bleeding group with 79 children and non-bleeding group with 2 377 children. A multivariate logistic regression analysis was used to investigate the risk factors for delayed bleeding. The receiver operating characteristic (ROC) curve was used to investigate the value of various indicators in predicting delayed bleeding. RESULTS: Of all 2 456 children, 79 (3.22%) experienced delayed bleeding, among whom 5 children with severe delayed bleeding underwent emergency colonoscopy for hemostasis and 74 received conservative treatment, and successful hemostasis was achieved for all children. There were significant differences between the bleeding and non-bleeding groups in age, body mass index, constipation rate, location of lesion, time of endoscopic procedure, resection method (P<0.05). Children with a diameter of polyps of 6-10 mm and >20 mm were more likely to develop delayed bleeding after resection (P<0.05). The multivariate logistic regression analysis showed that endoscopic operation time, polyp diameter, and resection method were significantly associated with delayed bleeding (P<0.05). The ROC curve analysis showed that the endoscopic operation time, polyp diameter, and resection method had a good value in predicting delayed bleeding after intestinal polypectomy, with an area under the ROC curve of 0.706, 0.688, and 0.627, respectively. CONCLUSIONS: Endoscopic high-frequency electrocoagulation loop resection has a lower incidence of delayed bleeding in children with intestinal polyps, and the endoscopic operation time, polyp diameter, and resection method are closely associated with the occurrence of postoperative delayed bleeding.


Assuntos
Hemorragia , Intestinos , Criança , Humanos , Estudos Retrospectivos , Pólipos Intestinais/cirurgia , Fatores de Risco
2.
Zhongguo Dang Dai Er Ke Za Zhi ; 24(5): 530-535, 2022 May 15.
Artigo em Zh | MEDLINE | ID: mdl-35644193

RESUMO

OBJECTIVES: To study the clinical features of intestinal polyps and the risk factors for secondary intussusception in children. METHODS: A retrospective analysis was performed for the medical data of 2 669 children with intestinal polyps. According to the presence or absence of secondary intussusception, they were divided into two groups: intussusception (n=346) and non-intussusception (n=2 323). Related medical data were compared between the two groups. The multivariate logistic regression analysis was used to identify the risk factors for secondary intussusception. RESULTS: Among the children with intestinal polyps, 62.42% were preschool children, and the male/female ratio was 2.08∶1; 92.66% had hematochezia as disease onset, and 94.34% had left colonic polyps and rectal polyps. There were 346 cases of secondary intussusception, with an incidence rate of 12.96% (346/2 669). Large polyps (OR=1.644, P<0.001), multiple polyps (≥2) (OR=6.034, P<0.001), and lobulated polyps (OR=93.801, P<0.001) were the risk factors for secondary intussusception. CONCLUSIONS: Intestinal polyps in children often occur in preschool age, mostly in boys, and most of the children have hematochezia as disease onset, with the predilection sites of the left colon and the rectum. Larger polyps, multiple polyps, and lobulated polyps may increase the risk of secondary intussusception, and endoscopic intervention is needed as early as possible to improve prognosis.


Assuntos
Intussuscepção , Pré-Escolar , Feminino , Hemorragia Gastrointestinal , Humanos , Pólipos Intestinais/complicações , Intussuscepção/complicações , Masculino , Estudos Retrospectivos , Fatores de Risco
3.
Cancer Sci ; 111(1): 137-147, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31724799

RESUMO

As a member of the epidermal growth factor receptor (EGFR) family, ERBB3 plays an essential role in development and disease independent of inherently inactive kinase domain. Recently, ERBB3 has been found to bind to ATP and has catalytic activity in vitro. However, the biological function of ERBB3 kinase activity remains elusive in vivo. Here we have identified the physiological function of inactivated ERBB3 kinase activity by creating Erbb3-K740M knockin mice in which ATP cannot bind to ERBB3. Unlike Erbb3 knockout mice, kinase-inactive Erbb3K740M homozygous mice were born in Mendelian ratios and showed normal development. After dextran sulfate sodium-induced colitis, the kinase-inactive Erbb3 mutant mice showed normal recovery. However, the outgrowth of ileal organoids by neuregulin-1 treatment was more attenuated in Erbb3 mutant mice than in WT mice. Moreover, in combination with the ApcMin mouse, the proportion of polyps less than 1 mm in diameter in mutant mice was higher than in control mice and an increase in the number of apoptotic cells was observed in polyps from mutant mice compared with polyps from control mice. Taken together, the ERBB3 kinase activity contributes to the outgrowth of ileal organoids and intestinal tumorigenesis, and the development of ERBB3 kinase inhibitors, including epidermal growth factor receptor family members, can be a potential way to target colorectal cancer.


Assuntos
Carcinogênese/metabolismo , Carcinogênese/patologia , Intestinos/patologia , Organoides/metabolismo , Organoides/patologia , Receptor ErbB-3/metabolismo , Animais , Apoptose/efeitos dos fármacos , Apoptose/fisiologia , Carcinogênese/efeitos dos fármacos , Neoplasias Colorretais/tratamento farmacológico , Neoplasias Colorretais/metabolismo , Neoplasias Colorretais/patologia , Intestinos/efeitos dos fármacos , Camundongos , Camundongos Knockout , Organoides/efeitos dos fármacos , Fosforilação/efeitos dos fármacos , Fosforilação/fisiologia , Pólipos/tratamento farmacológico , Pólipos/patologia , Inibidores de Proteínas Quinases/farmacologia
4.
Dig Endosc ; 27(3): 368-73, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25181427

RESUMO

BACKGROUND AND AIM: Endoscopic submucosal dissection (ESD) is gaining worldwide recognition as valuable alternative to treat early colorectal neoplasia. Although the method is perceived as technically difficult and carries a higher risk of complications than conventional endoscopy, the oncological results are very promising. Herein we aim to present the treatment outcomes of ESD for lesions in the colon and rectum at the beginning of our learning curve. METHODS: Seventy consecutive cases of colorectal ESD carried out in our center between June 2013 and May 2014 were analyzed. Effectiveness of dissection, complications and tumor recurrence after 3 months of treatment were investigated. RESULTS: Of the 70 ESD procedures, 39 were in the rectum, 10 in the sigmoid, eight in the descending colon, six in the ascending colon and seven in the cecum. Average size of removed tumors was 38.1 mm. In 50 cases, en-block resection was achieved. In this group, 97% cases were R0 resection. Perforation occurred in four cases (5.7%) of which three were managed with endoclips. In four cases, significant bleeding occurred. In a follow-up examination, two of 41 patients (4.9%) had recurrent adenoma that was successfully endoscopically removed. CONCLUSIONS: The results confirm that ESD is an effective and safe modality for treatment of colorectal epithelial neoplasia in the colon and rectum even at the beginning of the learning curve. After proper training, results in Europe and Japan may be comparable.


Assuntos
Colonoscopia/métodos , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/cirurgia , Mucosa Intestinal/cirurgia , Recidiva Local de Neoplasia/cirurgia , Idoso , Idoso de 80 Anos ou mais , Biópsia por Agulha , Estudos de Coortes , Colonoscopia/efeitos adversos , Neoplasias Colorretais/patologia , Dissecação/métodos , Europa (Continente) , Feminino , Humanos , Imuno-Histoquímica , Mucosa Intestinal/patologia , Masculino , Pessoa de Meia-Idade , Invasividade Neoplásica/patologia , Recidiva Local de Neoplasia/mortalidade , Recidiva Local de Neoplasia/patologia , Estadiamento de Neoplasias , Segurança do Paciente , Prognóstico , Estudos Retrospectivos , Análise de Sobrevida , Resultado do Tratamento
5.
J Clin Biochem Nutr ; 56(1): 43-8, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25678750

RESUMO

Peyer's patches are nodules that play a central role in intestinal immunity. Few studies demonstrate the relationship between the number of Peyer's patches and intestinal polyps. Here we identify a statistically significant inverse correlation between the quantity of Peyer's patches and of the development of intestinal polyps in Apc (Min/+) mice, which are a useful model to clarify the role of Peyer's patches in intestinal tumorigenesis. Using this model, we increased the number of Peyer's patches using 0.1% and 1% corn husk arabinoxylan through feed. Intestinal polyp formation significantly decreased, concomitant with an increase in Peyer's patches development (n = 12/group). In Aly (-/-) Apc (Min/+) mice (negative control; no Peyer's patches) there was no change in the amount of intestinal polyps (n = 10/group). Immune reaction following corn husk arabinoxylan treatment was measured by cytokine array. Increasing the number of Peyer's patches decreased interleukin-17 production, which showed a dose dependent correlation with transcription factor/lymphoid enhancer-binding factor. This study identified a relationship between levels of Peyer's patches and intestinal polyp formation, partly explained by the involvement of interleukin-17 production and ß-catenin signaling in Apc (Min/+) mice.

6.
Malays J Med Sci ; 21(3): 81-4, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-25246840

RESUMO

This is a case report of a 10-year-old boy who presented with features of acute intestinal obstruction. Clinical examination revealed distended abdomen, visible bowel loops, and a lump in the right upper quadrant of the abdomen. Clinically, the diagnosis of intussusception was suspected and confirmed on sonography examination. Exploration of the abdomen revealed ileo-colic intussusception. Manual reduction of intussusception was possible except the last part that had an intraluminal solitary polyp (3 × 4 cm) occupying the 3/4th of the lumen of the terminal ileum. Segmental resection of the ileum containing polyp was done, and the ileal continuity was restored with ileo-ileal anastomosis. His post-operative recovery was uneventful. Histologically, it was consistent with the inflammatory intestinal polyp without any evidence of malignancy.

7.
Technol Health Care ; 32(4): 2107-2113, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38393933

RESUMO

BACKGROUND: Electronic coloscopy is an invasive procedure and achieving an ideal result can be challenging, leading to low intestinal cleanliness scores and a poor intestinal polyp positive rate. OBJECTIVE: (1) To demonstrate the impact of intensified nursing intervention on electronic colonoscopy. (2) To improve patients' satisfaction with medical services related to intestinal cleanliness during preparation, the accuracy of the intestinal polyp-positive rate, and nursing. METHODS: Our study included 120 patients who underwent electronic coloscopy. These patients were randomly assigned to either the observation group or the control group, with 60 cases in each group. Patients in the control group received conventional nursing intervention, which included face-to-face oral and written instructions. In addition to the conventional intervention, patients in the observation group received intensified guidance interventions, which included instructions via phone, as well as WeChat messages and pictures. RESULTS: The patients in the observation group who received intensified guidance interventions demonstrated better intestinal cleanliness during preparation compared to the control group (P< 0.05). Besides, the accuracy of the intestinal polyp positive rate was higher in the observation group than in the control group (P< 0.05). Finally, regarding patient satisfaction with the nursing service provided by the endoscopy center, the observation group had a higher level of satisfaction than the control group (P< 0.05). CONCLUSION: The intensified guidance interventions provided to patients undergoing electronic colonoscopy resulted in a significant improvement in intestinal cleanliness during preparation, as well as an increase in the accuracy of the intestinal polyp-positive rate and patient satisfaction with our nursing service. Therefore, we believe that these interventions are highly beneficial and should be promoted and applied in clinical settings.


Assuntos
Colonoscopia , Satisfação do Paciente , Humanos , Feminino , Masculino , Pessoa de Meia-Idade , Colonoscopia/métodos , Colonoscopia/enfermagem , Adulto , Idoso , Educação de Pacientes como Assunto/métodos
8.
Front Mol Neurosci ; 16: 1228389, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37692099

RESUMO

Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a cancer predisposition syndrome characterized by an increased risk of developing benign and malignant tumors, caused by germline pathogenic variants of the PTEN tumour suppressor gene. PTEN gene variants often present in childhood with macrocephaly, developmental delay, and/or autism spectrum disorder while tumors and intestinal polyps are commonly detected in adults. PHTS is rarely associated with childhood brain tumors with only two reported cases of medulloblastoma (MB). We report the exceptional case of an infant carrying a germline and somatic pathogenic variant of PTEN and a germline and somatic pathogenic variant of CHEK2 who developed a MB SHH in addition to intestinal polyposis.

9.
Artigo em Inglês | MEDLINE | ID: mdl-36232007

RESUMO

Epidemiological studies have suggested the role of multiple genetic and environmental factors in the development of non-neoplastic gastrointestinal (GI) diseases; however, little information is available on these factors in the Korean population. Therefore, this cross-sectional study explored the effect of these factors by analyzing the concordance of several benign GI disorders in 525 monozygotic twins compared to that in 122 dizygotic twins aged >20 years from the Healthy Twin Study data of the Korean Genome and Epidemiology Study (2005-2014). Chi-square test, Wilcoxon rank-sum, and binomial and multinomial logistic regression models were used for statistical analysis. There was lack of concordance of gastric/duodenal ulcers and cholelithiasis/cholangitis between monozygotic twins compared to that in dizygotic twins, suggesting that environmental factors may mediate those concordant disease expressions in monozygotic twins. The concordance of intestinal polyps in monozygotic twins was 32% lower than that in dizygotic twins (p = 0.028), indicating that the effect of genetic factors on the risk for intestinal polyp development may be low. In conclusion, the lack or low concordance of several benign GI diseases between monozygotic and dizygotic twin groups suggests the relative importance of environmental factors, indicating that these are preventable diseases.


Assuntos
Colelitíase , Úlcera Péptica , Estudos Transversais , Doenças em Gêmeos/epidemiologia , Doenças em Gêmeos/genética , Humanos , Pólipos Intestinais , República da Coreia/epidemiologia , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética
10.
Artigo em Inglês | MEDLINE | ID: mdl-30696621

RESUMO

Gardner syndrome describes a variant phenotype of familial adenomatous polyposis (FAP), primarily characterized by extracolonic lesions including osteomas, dental abnormalities, epidermal cysts, and soft tissue tumors. We describe a 2-yr-old boy presenting with a 2-cm soft tissue mass of the forehead. Pathologic evaluation revealed a nuchal-type/Gardner-associated fibroma. Sequencing of the APC gene revealed a pathologic variant c.4666dupA. Parental sequencing of both blood and buccal tissue supported the de novo occurrence of this pathologic variant. Further imaging revealed a number of additional lesions including a large lumbar paraspinal desmoid, a 1-cm palpable lesion posterior to the left knee, firm lesions on bilateral heels, and multiple subdermal lesions. Colonoscopy was negative. This case illustrates a genetic variant of Gardner syndrome resulting in an aggressive early childhood phenotype and highlights the need for an individualized approach to treatment.


Assuntos
Proteína da Polipose Adenomatosa do Colo/genética , Testa/patologia , Síndrome de Gardner/patologia , Calcanhar/patologia , Joelho/patologia , Pré-Escolar , Testa/diagnóstico por imagem , Síndrome de Gardner/genética , Variação Genética , Calcanhar/diagnóstico por imagem , Humanos , Joelho/diagnóstico por imagem , Masculino , Linhagem , Fenótipo , Análise de Sequência de DNA , Carga Tumoral
11.
Exp Ther Med ; 16(3): 2527-2533, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30186486

RESUMO

A newly-developed platform, integrating subtraction enrichment and immunostaining-fluorescence in situ hybridization (SE-iFISH), was applied to analyze the clinical significance of circulating tumor cells (CTCs) for early screening of cancer in healthy people. The present case report describes one healthy individual who accepted a CTC peripheral blood test, and 8 CTCs/7.5 ml blood were detected. However, various conventional cancer biomarkers were all negative, including cervical cytological inspection, alpha-fetoprotein, cancer antigen (CA)-125, CA19-9, carcinoembryonic antigen (CEA), CA15-3 and human papilloma virus. To explore the origin of the CTCs, whole exome sequencing was used to analyze the CTC variation spectrum. A total of 42 mutations were associated with cancer according to analysis in COSMIC (http://cancer.sanger.ac.uk/cosmic). The results revealed a high risk of tumor in the colorectum, stomach and breast (13, 12 and 6 variations matched, respectively). In this individual, an intestinal polyp was discovered and removed by colonoscopy. The intestinal polyp was identified to be a hyperplastic polyp by pathological diagnosis. No lesions were discovered in the stomach and breast. No CTCs were detected in this patient's blood at 1 and 6 months after removal of the lesions. This case indicates that CTC detection by SE-iFISH has potential in early stage cancer screening, and the mutation spectrum of CTC assists the tracking of its sources.

12.
Radiol Case Rep ; 13(4): 839-842, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29955242

RESUMO

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited condition characterized by hamartomatous gastrointestinal polyps, mucocutaneous pigmentation, and a predisposition for malignancy. Most patients with PJS are diagnosed in the second or third decade of life, and commonly have intussusception as a complication. This report describes an unusual case of a 2-year-old male known to have PJS, who had previously developed a small bowel intussusception caused by a polyp requiring a very short segmental small bowel resection. The patient remained asymptomatic several months after the surgery and then presented with acute abdominal discomfort. On abdominal ultrasound, a target sign measuring 2.7 cm was noted in the left upper quadrant of the abdomen, suggesting a small bowel-small bowel intussusception. There was no evidence of intussusception or bowel obstruction otherwise on diagnostic laparoscopy. It was thought that the previous side-to-side anastomosis had mimicked intussusception on the ultrasound examination. A repeat abdominal ultrasound was performed 1 week after the laparoscopy when the patient was asymptomatic. This again demonstrated a target sign identical in appearance to the previous ultrasound and confirmed that the side-to side anastomosis had in fact mimicked intussusception. It is important that the pediatric gastroenterology, radiology, and surgery communities are aware of this ultrasound finding; it could impact the decision on whether to operate emergently. To our knowledge this is the first report describing this unusual scenario in humans.

13.
Cold Spring Harb Mol Case Stud ; 3(3): a001610, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-28487883

RESUMO

Colon polyps represent precursor lesions of colon cancers and their malignant potential varies according to histological subtype. A rare subtype of colon polyps is the Peutz-Jeghers (PJ) polyp. PJ polyps mostly occur in the context of Peutz-Jeghers syndrome, which is characterized by the development of multiple polyps in the intestinal tract and hyperpigmentation of oral mucosa and lips. Peutz-Jeghers is an autosomal dominant disorder caused by pathogenic variants of the serine threonine kinase STK11. PJ polyps very rarely occur outside of the syndrome and are then referred to as solitary PJ polyps. Contrary to the situation in Peutz-Jeghers, the genetic basis and the malignant potential of solitary PJ polyps are currently unknown. Here we describe a detailed and comprehensive genetic profile of a solitary PJ polyp. Pathological examination revealed a high tissue homogeneity with >80% epithelial cells. Whole-genome sequencing failed to identify any clonal mutations but demonstrated a significant number of subclonal mutations. No somatic or germline mutations were found at the STK11 locus, suggesting that solitary PJ polyps are genetically distinct from Peutz-Jeghers polyps. In addition, methylome analysis revealed global hypomethylation and CpG island hypermethylation, two features that have been described as hallmarks of the colorectal cancer epigenome. These results provide an example of a premalignant lesion that is defined by epigenetic, rather than genetic changes. Furthermore, our findings support the notion that solitary PJ polyps constitute neoplastic tissue with malignant potential that should be removed for cancer prevention.


Assuntos
Pólipos do Colo/genética , Hamartoma/genética , Síndrome de Peutz-Jeghers/genética , Adulto , Colo/patologia , Pólipos do Colo/patologia , Mutação em Linhagem Germinativa , Humanos , Masculino , Mutação , Síndrome de Peutz-Jeghers/diagnóstico , Sequenciamento Completo do Genoma
14.
Rev. Fac. Med. UNAM ; 65(5): 30-33, sep.-oct. 2022. graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1431340

RESUMO

Resumen La intususcepción intestinal es la invaginación de un segmento de intestino en el interior de otro segmento inmediato, asociado a una alteración en la pared intestinal, siendo en intestino delgado más común por patologías benignas y en intestino grueso por patologías malignas. Presentamos caso de paciente femenino de 30 años, con dolor abdominal de 1 semana de evolución y datos de oclusión intestinal, se somete a laparotomía de urgencia, donde se encuentra intususcepción intestinal en íleon terminal. La intususcepción intestinal generalmente se va a presentar como un cuadro de obstrucción intestinal. El tratamiento es la resección del segmento afectado.


Abstract The intestinal intussusception is the invagination of one segment of the bowel into an immediately adjacent segment, associated to an alteration into the wall, the small intestinal is the most associated a benign pathology and large intestinal by malignant pathologies. We present the case of a 30-year-old female patient, who came to the emergency room due to intense abdominal pain of 1 week of evolution and evidence of intestinal occlusion, who underwent emergency laparotomy, where intestinal intussusception was found in the terminal ileum. Generally, the clinical presentation like an intestinal obstruction. Treatment is resection of the affected segment.

15.
Fam Cancer ; 15(1): 75-83, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26450841

RESUMO

The utility of capsule endoscopy (CE) for the surveillance of small intestinal lesions in familial adenomatous polyposis (FAP) patients has been reported. However, few studies have investigated the safety of CE in FAP patients who have undergone colon surgery. We aimed to assess the safety of surveillance CE in post-colectomy FAP patients and the endoscopic findings associated with small intestinal lesions. We assessed the safety of CE surveillance of small intestinal lesions in 41 FAP patients who had undergone colectomies. Forty-two CEs were performed in 41 patients at our facility from April 2012 to July 2014. CE was conducted safely and none of the capsules were retained, despite the inclusion of patients who had undergone several abdominal surgeries previously. Thirty-nine out of 42 capsules (93 %) were retrieved within the examination timeframe; hence, the retrieval rate was favorable. The findings from this study indicate that surveillance CE can be safely conducted in post-colectomy FAP patients.


Assuntos
Polipose Adenomatosa do Colo/complicações , Endoscopia por Cápsula/métodos , Neoplasias do Colo/diagnóstico , Detecção Precoce de Câncer/métodos , Adulto , Povo Asiático , Colectomia , Neoplasias do Colo/etiologia , Neoplasias do Colo/genética , Feminino , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Adulto Jovem
16.
Ann Coloproctol ; 31(3): 106-9, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26161379

RESUMO

Intussusceptions are defined as the telescoping of one segment of the gastrointestinal tract into an adjacent distal segment. In the small bowel, intussusceptions are typically caused by benign processes, but can occasionally be caused by inflammatory fibroid polyps, which often present as intussusception and bowel obstruction. These polyps are rare, benign, tumorous lesions in the gastrointestinal tract and are typically observed in the stomach, but can occur anywhere in the gastrointestinal tract. Any case of a jejunojejunal intussusception caused by inflammatory fibroid polyps is considered rare, and we report the case of a 51-year-old woman with an inflammatory fibroid polyp of the jejunum presenting as an intussusception who was successfully treated with a resection.

17.
World J Gastroenterol ; 20(48): 18338-45, 2014 Dec 28.
Artigo em Inglês | MEDLINE | ID: mdl-25561800

RESUMO

AIM: To clarify the molecular mechanism involved in pathogenesis of colorectal cancer as well as clinical significance of genetic analysis of histological samples. METHODS: A total of 480 blood and tissue specimens were collected in our hospital from January 2011 to October 2012. In the observation group, there were 120 blood specimens and 120 intestinal tract tissue specimens collected from patients with neoplastic intestinal polyps. In the control group I there were 80 blood specimens and 80 intestinal tract tissue specimens collected from patients with colorectal cancer. In the control group II there were 40 blood specimens and 40 intestinal tract tissue specimens collected from healthy individuals. The gene segments were amplified using PCR and DNA gel electrophoresis along with DNA sequence analysis were employed for the detection of the following single nucleotide polymorphisms (SNPs): K-RAS codons 12 and 13; hMLH1 (human mutS homolog 1) gene missense mutation at Va1384Asp; hMSH2 (human mutS homolog 2) gene missense mutation at 2783C/A. RESULTS: The mutation rate of the SNP at Va1384Asp locus of the hMLH1 gene from blood and tissue specimens in the observation group showed no statistical difference from those in the control group I. The mutation rates of SNPs in codons 12 and 13 of K-RAS and at 2783C/A locus of the hMSH2 gene were significantly lower in the observation group than in the control group I (χ(2) = 15.476, 29.670, 10.811, 16.618, 33.538, 7.898, P < 0.05). The mutation rate of SNP at Va1384Asp locus of the hMLH1 gene was significantly higher in the observation group when compared to the control group II (χ(2) = 10.486, 4.876, P < 0.05). The mutation rates of SNPs in codons 12 and 13 of K-RAS and at 2783C/A locus of the hMSH2 gene did not show any statistical difference from those in the control group II. CONCLUSION: There may be important clinical significance and relevance between neoplastic intestinal polyps and colorectal cancer in terms of the mechanisms involved in the pathogenesis.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Pólipos do Colo/genética , Neoplasias Colorretais/genética , Proteína 2 Homóloga a MutS/genética , Mutação de Sentido Incorreto , Proteínas Nucleares/genética , Polimorfismo de Nucleotídeo Único , Proteínas Proto-Oncogênicas/genética , Proteínas ras/genética , Adulto , Idoso , Estudos de Casos e Controles , Códon , Pólipos do Colo/patologia , Neoplasias Colorretais/patologia , Análise Mutacional de DNA , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Proteína 1 Homóloga a MutL , Fenótipo , Proteínas Proto-Oncogênicas p21(ras) , Adulto Jovem
18.
Rev. Nac. (Itauguá) ; 9(2): 77-83, 2017.
Artigo em Espanhol | LILACS, BDNPAR | ID: biblio-884659

RESUMO

La intususcepción en un adulto debe hacer sospechar un tumor (benigno o potencialmente riesgoso); el diagnóstico certero es crucial para el tratamiento adecuado del paciente1. Alrededor del 90% de estos casos se dan en el intestino delgado y colon, el 10% restante se originan en el estómago y en estomas creados quirúrgicamente2. En los adultos, aproximadamente 90% de los casos de intususcepción son secundarios a una lesión definible3. El tumor de Vanek o pólipo fibroide inflamatorio, se conoce como una lesión benigna, rara, de localización submucosa, no encapsulada, cuya ubicación puede darse a lo largo del tracto digestivo, siendo más común en el antro gástrico (80 %), aunque también se ha descrito en la unión gastroesofágica, duodeno, yeyuno, íleon y colon4.


Intussusception in an adult must make us suspect the presence of a tumor (benign or potentially dangerous) as the most frequent cause. Accurate diagnosis is of great importance in order to provide appropriate treatment and improve patient prognosis1. About 90% of these cases occur in the small intestine and colon, and the remaining 10% originate in the stomach and surgically created ostomas2. In adults, approximately 90% of cases of intussusception are secondary to a definable lesión3. The Vanek's tumor or inflammatory fibroid polyp (IFP) is a rare benign lesion of submucosal location, not encapsulated, that may be located throughout the digestive tract, being more common in the gastric antrum (80%), although it has also been described in the gastroesophageal junction, duodenum, jejunum, ileum and colon4.


Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Neoplasias Gástricas/complicações , Pólipos Intestinais/complicações , Intestino Delgado , Intussuscepção/etiologia , Obstrução da Saída Gástrica/etiologia , Inflamação/complicações , Intussuscepção/cirurgia , Intussuscepção/diagnóstico
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