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1.
J. coloproctol. (Rio J., Impr.) ; 41(4): 443-446, Out.-Dec. 2021. ilus
Article in English | LILACS | ID: biblio-1356435

ABSTRACT

Abstract: Introduction Most cases of colorectal cancer (CRC) occur sporadically; however, ~3% to 6% of all CRCs are related to inherited syndromes, such as Lynch syndrome and familial adenomatous polyposis (FAP). The adenomatous polyposis coli (APC) andmutY DNA glycosylase (MUTYH) germline mutations are the main genetic causes related to colorectal polyposis. Nevertheless, in many cases mutations in these genes have not been identified. The aim of the present case report is to describe a rare case of genetic colorectal polyposis associated with the axis inhibition protein 2 (AXIN2) gene. Case Report: The first colonoscopy screening of a 61-year-old male patient with no known family history of CRC revealed ~ 50 colorectal polyps. A histological evaluation of the resected polyps showed low-grade tubular adenomas. Germline genetic testing through a multigene panel for cancer predisposition syndromes revealed a pathogenic variant in the AXIN2 gene. In addition to colorectal polyposis, the patient had mild features of ectodermal dysplasia: hypodontia, scant body hair, and onychodystrophy. Discussion: The AXIN2 gene acts as a negative regulator of the Wnt/β -catenin signaling pathway, which participates in development processes and cellular homeostasis. Further studies are needed to support the surveillance recommendations for carriers of the AXIN2 pathogenic variant. (AU)


Subject(s)
Humans , Male , Middle Aged , Adenomatous Polyposis Coli/diagnosis , Axin Protein/genetics , Mutation
2.
Rev. chil. pediatr ; 89(3): 339-345, jun. 2018. tab, graf
Article in Spanish | LILACS | ID: biblio-959531

ABSTRACT

INTRODUCCIÓN: La cápsula endoscópica (CE) es a una técnica no invasiva que permite la visualización de la mucosa del intestino delgado. Se utiliza para el diagnóstico de lesiones no accesibles con otros exámenes. El objetivo fue describir la experiencia de uso de CE en un hospital público pediátrico en Chile. PACIENTES Y MÉTODO: Estudio retrospectivo en que se revisaron los casos en que se utilizó CE en el Hospital Dr. Luis Calvo Mackenna desde 2010 hasta la fecha. Se registraron datos demográficos, clínicos, hallazgos, complicaciones, diagnóstico y conducta. RESULTADOS: Se realizaron 20 procedimientos en 16 pacientes, 11 varones (69%), mediana de edad 12 años (rango 3 a 15 años). Las indicaciones incluyeron estudio de poliposis (60%), sospecha de enfermedad de Crohn (20%), hemorragia digestiva de origen desconocido (15%) y anemia de causa desconocida (5%). Diecisiete estudios estaban alterados (85%) y 11 llevaron a un diagnóstico o cambio de conducta clínica (55%). Los hallazgos principales fueron pólipos y erosiones intestinales. No se produjeron complicaciones. CONCLUSIONES: La CE es una técnica útil y segura en niños, factible de realizar en un hospital público pediátrico.


INTRODUCTION: Capsule endoscopy (CE) is a non-invasive technique that allows visualization of small intestine mucosa. It is used for diagnosis of lesions not accessible with other tests. Our goal was to describe the experience using CE in a pediatric public hospital in Chile. PATIENTS AND METHOD: A retrospective study was carried out to review the cases in which CE was used at Dr. Luis Calvo Mac kenna Hospital from 2010 to date. Demographic and clinical data, findings, complications, diagnosis and treatment were recorded. RESULTS: Twenty procedures were performed in 16 patients, 11 men (69%), median age 12 years (range 3 to 15 years). Indications included polyposis study (60%), suspected Crohn disease (20%), obscure gastrointestinal bleeding (15%) and undiagnosed anemia (5%). Seventeen studies were altered (85%) and 11 led to a diagnosis or clinical behavior change (55%). There were no complications. CONCLUSIONS: CE is a useful and safe technique in children, feasible to perform in a pediatric public hospital.


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Practice Patterns, Physicians' , Capsule Endoscopy/statistics & numerical data , Gastrointestinal Diseases/diagnostic imaging , Hospitals, Pediatric , Hospitals, Public , Retrospective Studies , Follow-Up Studies , Capsule Endoscopy/adverse effects , Capsule Endoscopy/instrumentation , Capsule Endoscopy/methods
3.
Rev. cuba. cir ; 57(1): 58-62, ene.-mar. 2018. ilus
Article in Spanish | LILACS | ID: biblio-960347

ABSTRACT

La enfermedad de Menetrier se define como la poliposis gástrica múltiple. Es una entidad infrecuente y se caracteriza por pólipos hiperplásicos de menos de 2 centímetros de diámetro, que rara vez se malignizan. Se presenta una paciente con enfermedad de Menetrier, que llevó seguimiento endoscópico durante tres años y debido al aumento progresivo del número de pólipos y la sintomatología se realizó una gastrectomía subtotal sin complicaciones intra ni posoperatorias(AU)


The Ménétrier's disease is defined as multiple gastric polyposis. It is an infrequent entity characterized by hyperplastic polyps less than 2 centimeters in diameter, which rarely become malignant. We present a patient with Ménétrier's disease, who underwent endoscopic follow-up for three years and, due to the progressive increase in the number of polyps and the symptomatology, was performed a subtotal gastrectomy without intraoperative or postoperative complications(AU)


Subject(s)
Humans , Female , Middle Aged , Gastrectomy/methods , Gastritis, Hypertrophic/surgery , Gastritis, Hypertrophic/diagnosis
4.
The Korean Journal of Gastroenterology ; : 277-280, 2018.
Article in Korean | WPRIM | ID: wpr-718634

ABSTRACT

Although small bowel the mainly occupies the most part of the gastrointestinal tract, small intestine tumors are rare, insidious in clinical presentation, and frequently represent a diagnostic and management challenge. Small bowel tumors are generally classified as epithelial, mesenchymal, lymphoproliferative, or metastatic. Familial adenomatous polyposis and Peutz-Jeghers syndrome are the most common inherited intestinal polyposis syndromes. Until the advent of capsule endoscopy (CE) and device-assisted enteroscopy (DAE) coupled with the advances in radiology, physicians had limited diagnostic examination for small bowel examination. CE and new radiologic imaging techniques have made it easier to detect small bowel tumors. DAE allows more diagnosis and deeper reach in small intestine. CT enteroclysis/CT enterography (CTE) provides information about adjacent organs as well as pictures of the intestinal lumen side. Compared to CTE, Magnetic resonance enteroclysis/enterography provides the advantage of soft tissue contrast and multiplane imaging without radiation exposure. Treatment and prognosis are tailored to each histological subtype of tumors.


Subject(s)
Adenomatous Polyposis Coli , Capsule Endoscopy , Diagnosis , Gastrointestinal Tract , Intestinal Polyposis , Intestine, Small , Peutz-Jeghers Syndrome , Prognosis , Radiation Exposure
5.
Chinese Journal of Pathology ; (12): 753-757, 2018.
Article in Chinese | WPRIM | ID: wpr-807528

ABSTRACT

Objective@#To analyze the clinical and pathological features of Cronkhite-Canada syndrome (CCS), and to investigate the significance of IgG4 positive plasma cell infiltration.@*Methods@#Clinical presentations, endoscopic appearances and morphological features of 18 patients diagnosed with CCS at Peking Union Medical College Hospital during 2000-2016 were included in the study.There were 11 male and 7 female patients. IgG4 and IgG immunohistochemical stains were performed in total of 55 biopsies from the patients (36 polyps, 10 adenoma and 9 surrounding mucosa) and a control group of 58 cases (19 colonic mucosa, 7 colonic hyperplastic polyps, 9 inflammatory bowel disease and 23 adenoma).@*Results@#Average age of CCS was 59 years (range 47-69 years) and the male to female ratio was 11∶7. All patients had at least one ectoderm lesion. Fourteen cases had testicular abnormalities. Digestive tract symptoms were encountered in most cases. Four patients had a history of connective tissue disease. Endoscopically, multiple polyps were found to involve entire gastrointestinal tract except the esophagus. Morphologically, CCS polyps were characterized by prominent mucosal edema, mild to moderate inflammation, glands hyperplasia and cystic dilatation. Ten cases had colonic adenoma and one case had rectal adenocarcinoma. While none of the cases reached the diagnostic criteria of IgG4 disease, the positive rate of IgG4 positive plasma cells in adenoma of CCS was significantly higher than that in polyps and surrounding mucosa of CCS (60.0%∶13.9%∶0, P<0.01). The positive rate of IgG4 positive plasma cells of adenoma and polyp of CCS had an increased tendency compared to that of adenoma and polyp of control group (60.0%∶34.8%; 13.9%∶0).@*Conclusion@#The findings in the study do not support that CCS is a variant of IgG4 disease, although IgG4 positive plasma cells may be involved in the pathogenesis of CCS, which may be explored in future investigations.

6.
Medicina (Ribeiräo Preto) ; 50(5): 326-332, set.-out. 2017. ilus
Article in Portuguese | LILACS | ID: biblio-910579

ABSTRACT

Modelo do estudo: Relato de caso. Importância do problema e comentários: A Síndrome de Gardner trata-se de uma variante da Polipose Adenomatosa Familiar (PAF), com associação de pólipos gastrointestinais, tumores de partes moles e tumores ósseos. É uma desordem rara e o diagnóstico precoce é crucial para redução da morbimortalidade. O presente estudo relata um caso de Síndrome de Gardner com seus achados clínicos e radiológicos, além de apresentar breve revisão da literatura. (AU)


Type of study: Case report. Relevance and comments: Gardner Syndrome is a variant of Familial Adenomatous Polyposis (FAP), with the association of gastrointestinal polyps, soft tissue tumors and bone tumors. It is a rare disorder and early diagnosis is crucial to reduce its morbimortality. The present report illustrates a case of Gardner Syndrome with its clinical and radiologic features, as well as a brief review of the literature. (AU)


Subject(s)
Humans , Female , Adult , Adenomatous Polyposis Coli , Epidermal Cyst , Fibroma , Gardner Syndrome , Intestinal Polyposis
7.
ImplantNewsPerio ; 2(3): 521-525, mai.-jun. 2017. ilus
Article in Portuguese | LILACS, BBO | ID: biblio-847268

ABSTRACT

A síndrome de Peutz-Jeghers é uma associação de polipose no trato gastrointestinal do tipo familiar e pigmentação melânica mucocutânea, particularmente nos lábios, mucosa bucal e polpa digital. Há poucas décadas, algumas centenas de casos haviam sido descritos na literatura, o que torna a doença não tão rara. O objetivo deste trabalho foi relatar casos clínicos em que os pacientes eram portadores da síndrome. Em um dos casos, tia e sobrinha evidenciaram a implicação genética da doença. Dados clínicos, bases moleculares e resultados histopatológicos, com a utilização de anticorpos (Ac) monoclonais, mostram a relevância do trabalho. Portadores crônicos da síndrome após décadas, ainda não diagnosticados, procuram o cirurgião-dentista para tratamentos diversos, dando-lhe oportunidade e responsabilidade na detecção da doença, devido ao risco de desenvolvimento de tumores malignos no trato gastrointestinal.


The Peutz-Jeghers syndrome is a familiar association of polyposis in the gastrointestinal tract and melanic mucocutaneous pigmentation, particularly in the lips, oral mucosa and fi ngertips. A few decades few hundred cases had been described in the literature wich makes the disease not so rare. The objective of this study is to report clinical cases where patients were carriers of the syndrome. In one of the cases the aunt and nice showed the genetic implication of the disease. Clinical data, molecular basis and histopathological results with monoclonal antibodies (Ac), show the relevance of this work. Chronic carriers of the syndrome after decades, still undiagnosed, seek the dentist for various treatments giving him the opportunity and responsibility to detect the disease due to the risk of development of malignant tumors in the gastrointestinal tract.


Subject(s)
Humans , Female , Adult , Middle Aged , Antibodies, Monoclonal/therapeutic use , Hamartoma , Intestinal Polyposis , Melanins , Peutz-Jeghers Syndrome , Pigmentation/radiation effects
8.
Acta méd. colomb ; 38(3): 182-185, jul.-sep. 2013. ilus, graf, tab
Article in Spanish | LILACS, COLNAL | ID: lil-689548

ABSTRACT

Resumen Presentamos el caso de una mujer de 22 años de edad, evaluada debido a que en su historia familiar a su madre se le encontró carcinoma de colon sigmoide. A la paciente se le diagnosticó poliposis colónica, que resolvió tras remoción endoscópica de las lesiones. Se realizó estudio de nódulo tiroideo y se realizó tiroidectomía total encontrándose un carcinoma papilar de tiroides como diagnóstico definitivo. Hicimos una revisión de la literatura. (Acta Med Colomb 2013; 38: 182-185).


Abstract We report the case of a 22-year-old woman evaluated because in her family history his mother had a sigmoid colon carcinoma. The patient was diagnosed with colonic polyposis, which resolved after endoscopic removal of the lesions. We made the study of a thyroid nodule and performed total finding a papillary thyroid carcinoma as definitive diagnosis. (Acta Med Colomb 2013; 38: 182-185).


Subject(s)
Humans , Female , Aged , Thyroid Neoplasms , Gardner Syndrome , Genes, APC , Intestinal Polyposis
9.
Brasília méd ; 50(1): 71-77, july 2013. ilus, tab
Article in Portuguese | LILACS-Express | LILACS | ID: lil-686942

ABSTRACT

A síndrome de Peutz-Jeghers é doença autossômica dominante rara e tem como características a presença de pigmentação melânica mucocutânea em lábios, região perioral e mucosa bucal, associada com polipose hamartomatosa do trato gastrointestinal. Portadores da síndrome têm elevada propensão de desenvolverem diversos tumores malignos. O objetivo do presente estudo é relatar um caso clássico da síndrome em mulher com 21 anos etários com hematoquezia, mas sem dor ou alterações do ritmo intestinal. Episódio semelhante havia ocorrido há alguns meses. Apresentava-se hipocorada e com manchas melanóticas múltiplas sem sangramento em mucosa oral, lábios e extremidades de dedos das mãos. Seu pai também apresentava manchas escuras na mucosa da boca e teve câncer de cólon. Os exames revelaram anemia crônica ferropriva, quatro pólipos sésseis na retossigmoidoscopia rígida e gastrite enantematosa leve de antro e múltiplos pólipos no antro na endoscopia digestiva alta. O exame histopatológico foi compatível com pólipos hiperplásicos sem atipias. As colonoscopias posteriores revelaram o diagnóstico histológico de pólipos de Peutz-Jeghers. Considerando as possíveis complicações associadas, destaca-se a importância do diagnóstico precoce e o acompanhamento multidisciplinar de pacientes com quadro clínico semelhante ao descrito.


Peutz-Jeghers syndrome is a rare dominant autosomal disorder characterized by the presence of mucocutaneous melanic pigmentation in the lips, perioral region and buccal mucosa, associated with hamartomatous intestinal polyposis. Individuals with this syndrome have a high tendency to develop diverse malignant tumors. The aim of the present study is to report a classical case of the syndrome in a 21-year-old woman with bleeding in stools, but without pain or changes in bowel movement. A similar episode had occurred a few months earlier. The patient was pale and had multiple non-bleeding melanotic spots in her mouth, lips and in the tips of her fingers. Her father also presented with black spots in his buccal mucosa and developed colon cancer. Exams revealed chronic anemia caused by iron deficiency, four sessile polyps on rigid retosigmoidoscopy, mild enanthematous antral gastritis, and multiple antral polyps on upper digestive endoscopy. The histopathological study was compatible with hyperplasic polyps without atypia. Subsequent colonoscopy studies revealed the histological diagnosis of ?Peutz-Jeghers polyps?. Due to potentially associated complications, the importance of an early diagnosis and multidisciplinary follow-up should be emphasized for patients with clinical features similar to those herein described.

10.
Clinical Endoscopy ; : 85-90, 2013.
Article in English | WPRIM | ID: wpr-28644

ABSTRACT

Cowden's disease, also known as a kind of phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome, is an uncommon autosomal dominant inherited complex disorder with various hamartomatous growths of multiple organs involving all three germ cell layers. It usually manifests with polyps throughout the gastrointestinal tract, ranging anywhere from 30% to 85%, and more common extra intestinal findings. Mucocutaneous lesions like facial trichilemmomas, acral keratoses, papillomatous papules and macrocephaly, and malignancies including breast, thyroid and endometrial carcinoma are the hallmark of the disease. Here we report on familial Cowden's diseases case of a 52-year-old male proband with mucocutaneous lesions and mutation on the PTEN gene obtained by extrapolating from gastrointestinal polyposis as a starter and his daughter who developed thyroid cancer.


Subject(s)
Female , Humans , Male , Breast , Endometrial Neoplasms , Gastrointestinal Tract , Germ Cells , Hamartoma , Hamartoma Syndrome, Multiple , Intestinal Polyposis , Keratosis , Megalencephaly , Microfilament Proteins , Nuclear Family , Papilloma , Polyps , Thyroid Gland , Thyroid Neoplasms
11.
Intestinal Research ; : 317-322, 2013.
Article in Korean | WPRIM | ID: wpr-55521

ABSTRACT

Cronkhite-Canada syndrome (CCS) is a rare, noninherited gastrointestinal polyposis syndrome associated with ectodermal changes such as alopecia, nail dystrophy, and cutaneous hyperpigmentation. The etiology and pathogenesis of CCS are not known, but diarrhea, malnutrition, gastrointestinal bleeding, and infection may occur in the affected patient; moreover, this condition could be fatal. However, previous reports have described several cases of spontaneous remission. We report a 60-year-old man who was incidentally found to have colonic polyposis, alopecia, and hypogeusia and was diagnosed to have CCS. However, this patient experienced spontaneous remission, including regrowth of body hair and alleviation of bowel inflammation, without any specific medications such as steroids, antibiotics, or proton pump inhibitors.


Subject(s)
Humans , Middle Aged , Ageusia , Alopecia , Anti-Bacterial Agents , Colon , Diarrhea , Ectoderm , Hair , Hemorrhage , Hyperpigmentation , Inflammation , Intestinal Polyposis , Malnutrition , Nails , Proton Pump Inhibitors , Remission, Spontaneous , Steroids
12.
Clinical Endoscopy ; : 301-305, 2013.
Article in English | WPRIM | ID: wpr-202369

ABSTRACT

Cronkhite-Canada syndrome (CCS) is a rare nonfamilial polyposis syndrome characterized by epithelial disturbances both in the gastrointestinal tract and in the epidermis. The pathologic finding of the polyp is usually a hamartomatous polyp of the juvenile type; however, the possibility of serrated adenoma associated malignant neoplasm was reported in some Japanese cases. Up till now in South Korea, 13 CCS cases have been reported, but there was no case accompanied by the colon cancer. We report the first case of CCS associated with malignant colon polyp and serrated adenoma in Korea. A 72-year-old male patient who complained of diarrhea and weight loss was presented with both hands and feet nail dystrophy, hyperpigmentation, and alopecia. Endoscopic examination showed numerous hamartomatous polyps from the stomach to the colon. The pathologic results confirmed colon cancer and serrated adenoma. Helicobacter pylori eradication and prednisolone was used. Thus, the authors report this case along with a literature review.


Subject(s)
Humans , Male , Adenoma , Alopecia , Asian People , Colon , Colonic Neoplasms , Diarrhea , Epidermis , Foot , Gastrointestinal Tract , Hand , Helicobacter pylori , Hyperpigmentation , Intestinal Polyposis , Korea , Nails , Polyps , Prednisolone , Republic of Korea , Stomach , Weight Loss
13.
J. coloproctol. (Rio J., Impr.) ; 32(3): 316-320, July-Sept. 2012. ilus
Article in English | LILACS | ID: lil-660621

ABSTRACT

Gardner syndrome (GS) is a rare entity characterized by a triad of familial colonic polyposis, multiple osteomas and soft tissue tumors, including desmoid tumor (DT). This is a case report of a 30 year-old patient with GS who developed giant DT in the abdominal wall after undergoing several laparotomies. The patient has taken a long time to search for medical care, and at first he saw another team that refused to operate him by judging the lesion unresectable. The surgery in our department was performed in three steps. Initially, we resected the lesion with macroscopic margins, and as there were small bowel adhesions in the tumor, we performed enterectomy and closed using the "Bogotá" technique, with skin closure on the bag. On the fourth postoperative day (POD), we reoperated the abdomen without identifying any signs of fistula. On the seventh POD there was another surgical intervention, this time to insert a double-sided mesh. The patient recovered well, and had no debilitating motor deficit, despite the extensive resection of the abdominal muscles. Curative treatment of DT is based on surgical resection and only sequential surveillance allows us an early diagnosis, when the lesion is still resectable. (AU)


Tumor desmoide gigante de parede abdominal em paciente portador da Síndrome de Gardner. A Síndrome de Gardner (SG) é uma entidade rara caracterizada pela tríade polipose colônica familial, múltiplos osteomas e tumores de tecidos moles, dentre eles o tumor desmoide (TD). Tratou-se de um relato de caso de um paciente de 30 anos, com SG que evoluiu com TD gigante em parede abdominal, após ser submetido a diversas laparotomias prévias. O paciente levou longo tempo para procurar o serviço de cirurgia, passando por outra equipe que se negou a abordá-lo por julgar a lesão irressecável. A cirurgia no nosso serviço se deu em três tempos. Inicialmente, foi feita a ressecção da lesão com margens macroscópicas e, por haver aderências de alças no tumor, realizamos enterectomia e fechamos a Bogotá com síntese da pele sobre a bolsa. No quarto dia pós-operatório (DPO), reabordamos o abdômen sem identificar sinal de fístula. No sétimo DPO houve nova abordagem, agora para colocar tela dupla face. O paciente evoluiu bem, sem déficit motor debilitante, apesar da extensa área de ressecção muscular abdominal. O tratamento curativo dos TD é baseado na sua ressecção cirúrgica e somente a vigilância sequencial nos permite seu diagnóstico precoce e a abordagem enquanto a lesão é ressecável. (AU)


Subject(s)
Humans , Male , Adult , Gardner Syndrome , Fibromatosis, Aggressive/surgery , Abdominal Wall/surgery , Fibromatosis, Aggressive/diagnostic imaging
14.
J. coloproctol. (Rio J., Impr.) ; 32(3): 260-264, July-Sept. 2012. ilus, tab
Article in English | LILACS | ID: lil-660612

ABSTRACT

OBJECTIVE: To evaluate the results of ileal J-pouch anal anastomosis in ulcerative colitis and familial adenomatous polyposis. METHOD: Retrospective analysis of medical records of 49 patients submitted to ileal J-pouch anal anastomosis. RESULTS: Ulcerative colitis was diagnosed in 65% and familial adenomatous polyposis in 34%. Mean age was 39.5 years. 43% were male. Among familial adenomatous polyposis, 61% were diagnosed with colorectal cancer. Thirty-one percent of patients with ulcerative colitis was submitted to a previous surgical approach and 21% of these had toxic megacolon. Average hospital stay was 10 days. Post-operative complications occurred in 50% of patients with ulcerative colitis and 29.4% with familial adenomatous polyposis. Intestinal diversion was performed in 100% of ulcerative colitis and 88% of familial adenomatous polyposis. Pouchitis occurred in eight cases (seven ulcerative colitis and one FAP), requiring excision of the pouch in three ulcerative colitis. Mortality rate was 7.6%: two cases of carcinoma on the pouch and two post-operative complications. Late post-operative complications occurred in 22.4%: six familial adenomatous polyposis and five ulcerative colitis). Two patients had erectile dysfunction, and one retrograde ejaculation. One patient with severe perineal dermatitis was submitted to excision of the pouch. Incontinence occurred in four patients and two reported soil. Mean bowel movement was five times a day. CONCLUSION: Ileal J-pouch anal anastomosis is a safe surgery with acceptable morbidity and good functional results, if well indicated and performed in referral centers. (AU)


OBJETIVO: Avaliar resultados da anastomose íleo-anal com bolsa ileal em J na colite ulcerativa e na polipose adenomatosa familiar. MÉTODO: Análise retrospectiva dos prontuários de 49 pacientes submetidos a anastomose íleo-anal com bolsa ileal em J. RESULTADOS: 65% de colite ulcerativa e 34% de polipose adenomatosa familiar. Idade média de 39,5 anos. Gênero masculino perfez 43% da amostra. Na polipose adenomatosa familiar, 61% tinham diagnóstico prévio de câncer colorretal. Na colite ulcerativa, 31% tiveram abordagem cirúrgica prévia (21% por megacólon tóxico). O tempo médio de internação foi de 10 dias. Complicações pós-operatórias ocorreram em 50% das colites ulcerativas e 29,4% de polipose adenomatosa familiar. Foi realizada ileostomia em 100% das colites ulcerativas e 88% das poliposes adenomatosas familiares. Bolsite ocorreu em oito casos: em sete colites ulcerativas e em uma polipose adenomatosa familiar, com ressecção da bolsa em três colites ulcerativas. Taxa de mortalidade de 7,6%: dois casos de câncer na bolsa e duas complicações pós-operatórias. Complicações tardias ocorreram em 22,4%: em seis poliposes adenomatosas familiares e cinco colites ulcerativas. Dois pacientes apresentaram disfunção erétil e uma ejaculação retrógrada. Um paciente teve dermatite perineal severa (realizada ressecção da bolsa). Foi observada incontinência em quatro pacientes e escape fecal em dois. Média de hábito intestinal: cinco vezes ao dia. CONCLUSÃO: Anastomose íleo-anal com bolsa ileal é uma cirurgia com aceitável morbidade e bons resultados funcionais, quando bem indicada e realizada em centros de referência. (AU)


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Colitis, Ulcerative/surgery , Adenomatous Polyposis Coli/surgery , Colonic Pouches , Anastomosis, Surgical , Proctocolectomy, Restorative/adverse effects
15.
Arq. bras. neurocir ; 31(2)jun. 2012. ilus, tab
Article in Portuguese | LILACS | ID: lil-666956

ABSTRACT

A síndrome da polipose intestinal associada a tumor cerebral também é conhecida como síndrome de Turcot. Relata-se o caso de um paciente de 65 anos portador de polipose colônica hereditária e que desenvolveu sinais e sintomas neurológicos devido a glioblastoma multiforme cerebral. Destacam-se os achados imunoistoquímicos da lesão cerebral.


Intestinal polyposis syndrome associated with brain tumor, also known as Turcot's syndrome. We report a patient of 65 years old with hereditary colonic polyposis and developed neurological signs and symptoms due glioblastoma multiforme. We highlight the immunohistochemical findings of brain injury.


Subject(s)
Humans , Male , Aged , Glioblastoma/complications , Immunohistochemistry , Adenomatous Polyposis Coli/complications , Adenomatous Polyposis Coli/genetics , Brain Neoplasms/complications
16.
Journal of the Korean Association of Maxillofacial Plastic and Reconstructive Surgeons ; : 363-366, 2012.
Article in Korean | WPRIM | ID: wpr-785162
17.
Intestinal Research ; : 238-242, 2011.
Article in Korean | WPRIM | ID: wpr-51732

ABSTRACT

Cronkhite-Canada syndrome (CCS) is a rare, non-familial hamartomatous polyposis syndrome characterized by multiple polyps in the entire gastrointestinal tract, nail dystrophy, skin pigmentation, and systemic alopecia. The clinical symptoms of this syndrome include diarrhea, abdominal pain, and alopecia often accompanied by taste disturbances, hypoalbuminemia, recurrent infections, nutritional absorption disturbances, heart failure, and gastrointestinal bleeding. We report a patient with CCS who was admitted complaining of hematochezia, melena, and a 1 month history of diarrhea, nail changes, taste disturbances, and alopecia. Upper endoscopy, colonoscopy, and capsule endoscopy were performed and showed numerous polyps in the stomach, small intestine, and large intestine. Histological sections of these polyps showed edematous stroma and cystically dilated foveolar epithelium, which was consistent with CCS. We diagnosed CCS based on the clinical symptoms and the histological findings of the polyps found via endoscopy. We report on this case and review this syndrome.


Subject(s)
Humans , Abdominal Pain , Absorption , Alopecia , Capsule Endoscopy , Colonoscopy , Diarrhea , Endoscopy , Epithelium , Gastrointestinal Hemorrhage , Gastrointestinal Tract , Heart Failure , Hemorrhage , Hypoalbuminemia , Intestinal Polyposis , Intestine, Large , Intestine, Small , Melena , Nails , Polyps , Skin Pigmentation , Stomach
18.
Rev. bras. colo-proctol ; 29(1): 23-29, jan.-mar. 2009. ilus, tab
Article in Portuguese | LILACS | ID: lil-518060

ABSTRACT

Objetivo: analisar a qualidade preditiva de modelos computacionais para a diferenciação de tecidos cólicos, construídos a partir da representação de Imagens de Coloscopia (IC) como Matrizes de Co-ocorrência (MC). Materiais e Métodos: os modelos foramconstruídos aplicando técnicas de análise de imagens e de inteligência artificial. Foram utilizadas 67 IC, contendo pólipos, a partir das quais foram extraídas uma imagem da parte de tecido de pólipo e outra de tecido sem pólipo adjacente, totalizando 134 imagens. Para cada imagem, foram construídas MC para diferentes valores do parâmetro distância, D = 1 a 5, e extraídas 11 características de textura.Com essa representação, foram criados cinco modelos computacionais baseados em árvores de decisão. Os modelos foram avaliados utilizando: (a) validação cruzada e (b) tabelas de contingência. Resultados: na análise (a), o modelo de D = 3 apresentou o menor erro médio (22,25% ± 11,85%). Na análise (b), os modelos de D = 1 e 3 apresentaram os melhores valores de precisão. Conclusão: os valores do parâmetro de distância D = 1 e 3 apresentaram os modelos com as melhores qualidades preditivas. Os resultados mostraram que os modelos construídos apresentaram-se promissores para a construção de sistemas computacionais de suporte à decisão.


Purpose: to evaluate the predictive quality of computational models to differentiate colic tissues, based on Cooccorrurence Matrices (MC) representation of Coloscopic Images (IC). Materials and Methods: image analysis and artificial intelligence methods were employed to construct computational models. Sixty seven IC images, containing polyp, were considered in this work, from which a part containing a polypus and another without it were collected given origin to 134 images. For each one of these, different MC were constructed considering five distance parameters (D = 1 to 5) and the extraction of 11 texture characteristics. With this representation, five computational models were generated based on decision trees. These models were evaluated using two techniques: (a) cross-validation and (b) contingency tables. Results: for the (a) analysis, the model with D = 3 presented the smaller average error (22.25% ± 11.85%). For the (b) analysis, models with D = 1 and 3 presented the best precision values. Conclusion: parameters D = 1 and 3 presented models with the best predictive qualities. Results showed that the constructed models were promising to be applied within decision making computational systems.


Subject(s)
Artificial Intelligence , Colonic Neoplasms , Colonoscopy , Image Interpretation, Computer-Assisted , Intestinal Polyposis
19.
Korean Journal of Gastrointestinal Endoscopy ; : 543-548, 2000.
Article in Korean | WPRIM | ID: wpr-125816

ABSTRACT

The Cronkhite-Canada Syndrome (CCS) is a monfamilial disorder of adults characterized by diffuse gastro-intestinal polyposis, ectodermal changes consisting of alopecia, dystrophy of nails and cutaneous hyper-pigmentation. The pathogenesis and the causes of CCS remain unknwon but the symptoms such as diarrhea and malnutrition are generally progressive, and the prognosis is knwon to be poor. Though the definitive treatment is not well known, it has been reported that the conservative management is the most important treatment, and that the clinical sourse can be reversible. One case was experienced involving Cronkhite-Canada Syndromen in a patient who was managed by conservative treatment and an other who was treated by corticosteroid. These two cases are reported herein with a review of corresponding literature.


Subject(s)
Adult , Humans , Alopecia , Canada , Diarrhea , Ectoderm , Intestinal Polyposis , Malnutrition , Prognosis
20.
Korean Journal of Dermatology ; : 108-110, 1999.
Article in Korean | WPRIM | ID: wpr-124918

ABSTRACT

Laugier-Hunziker syndrone is a rare, pigmentary disorder of the lips, oral mucosa, and nails. The absence of intestinal polyposis differentiated it from Peutz-Jeghers syndrome. We describe a 16-year-old boy with multiple, brownish, lenticular macules on the lips, oral mucosa, perianal area and anal mucosa, and on the digits of his fingers and toes, in wham intestinal polyposis was not detectable.


Subject(s)
Adolescent , Humans , Male , Fingers , Intestinal Polyposis , Lip , Mouth Mucosa , Mucous Membrane , Peutz-Jeghers Syndrome , Toes
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