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4.
Pediátr. Panamá ; 47(3): 24-28, diciembre 2018.
Article in Spanish | LILACS | ID: biblio-980130

ABSTRACT

La invaginación intestinal se presenta con mayor frecuencia en el lactante menor de 2 años, con un pico entre los 5 y 9 meses de edad. En la gran mayoría de los casos es idiopática o de causa desconocida, probablemente secundaria a una infección viral que provoca un crecimiento del tejido linfático intestinal. Sólo en un 2-8% de los pacientes se demuestra una alteración anatómica como causa de la intususcepción (divertículo de Meckel, pólipo). Es la llamada invaginación intestinal secundaria, que suele presentarse en los menores de 3 meses o mayores de 3 años. El síndrome de Peutz-Jeguers (SPJ) es una condición rara y su frecuencia es probablemente inferior a 1/50,000. Se caracteriza por la presencia de pólipos hamartomatosos potencialmente malignos en el tracto digestivo asociada a pigmentaciones mucocutáneas características. Los datos actuales sugieren la existencia de al menos 2 genes implicados: STK11 (19p13.3), identi cado recientemente, es el responsable de la enfermedad en el 70% de las familias. Se describe el caso de dos adolescentes con cuadro de Intususcepción intestinal con diagnóstico de poliposis familiar de Peutz-Jeghers, requiriendo ambas procedimiento quirúrgico


Intestinal intussusception occurs more frequently in the infant younger than 2 years, with a peak between 5 and 9 months of age. In the vast majority of cases it is idiopathic or of unknown cause, probably secondary to a viral infection that causes a growth of the intestinal lymphatic tissue. Only in 2-8% of the patients an anatomical alteration as cause of the intussusception is demonstrated (Meckel's diverticulum, polyp). It is called secondary intestinal invagination, which usually occurs in children under 3 months or older than 3 years. Peutz-Jeguers syndrome (SPJ) is a rare condition and its frequency is probably less than 1 / 50,000. It is characterized by the presence of potentially malignant hamartomatous polyps throughout the digestive tract associated with characteristic mucocutaneous pigmentations. Current data suggest the existence of at least 2 genes involved: STK11 (19p13.3), recently identi ed, is responsible for the disease in 70% of families. We describe the case of two adolescents with intestinal intussusception with a diagnosis of familial polyposis of Peutz Jeghers, requiring both surgical procedures


Subject(s)
Adolescent , Peutz-Jeghers Syndrome , Intestinal Polyposis , Ileal Diseases , Intestinal Diseases , Intussusception
5.
Medicina (Ribeiräo Preto) ; Medicina (Ribeirao Preto, Online);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
6.
Rev. gastroenterol. Perú ; 37(4): 301-304, oct.-dic. 2017. ilus, tab
Article in Spanish | LILACS | ID: biblio-991271

ABSTRACT

Objetivo: Determinar si la localización y el tamaño de los adenomas de colon se asocian con la presencia de displasia de alto grado en los pacientes de un hospital peruano. Materiales y Métodos: Se realizó un estudio trasversal mediante la revisión de informes de colonoscopías de los años 2014-2015 del Hospital Nacional Daniel Alcides Carrión, incluyéndose los pólipos de pacientes mayores de 18 años; y excluyéndose los de pacientes con cáncer de colon, antecedente de cirugía oncológica, enfermedad inflamatoria intestinal y poliposis (6 o más). Se extrajeron los datos de localización (colon proximal y distal, división a partir del ángulo esplénico), tamaño (menos de 10 mm y 10 mm o más), forma (pediculados y sésiles) y grado de displasia (bajo y alto grado). Se calculó la fuerza de asociación mediante OR, se determinó si existía asociación a través de la prueba Chi cuadrado, con nivel de significancia menor a 0,05. Resultados: De un total de 1710 informes de colonoscopías revisadas, 378 personas tuvieron pólipos, calculando una tasa de detección de adenomas de 22,1%. De los 458 pólipos encontrados 254 fueron adenomas. Se demostró una asociación significativa entre la localización en colon distal y displasia de alto grado (OR 2,68 IC 1,12-6,42, p<0.05); asimismo, los adenomas mayores o iguales a 10 mm tuvieron más riesgo de displasia de alto grado (OR 7,75 IC 3,05-19,69, p<0.05). No se encontró asociación entre la forma de los adenomas y grado de displasia. Conclusión: Se concluye que el tamaño de 10 mm o más y la localización en colon distal se asocian a displasia de alto grado en los adenomas.


Objective: To determine whether localization and size are related to the presence of high-grade dysplasia of colon adenomas in patients of a Peruvian hospital. Materials and methods: This is a descriptive transversal study. We checked colonoscopy reports of 2014-2015 years of Hospital Daniel Alcides Carrion, we included the polyps found in patients older than 18 years old, and excluded reports from patients with colorectal cancer, an antecedent of oncological surgery, inflammatory bowel disease and polyposis (6 or more). We used data based on localization (proximal and distal colon, based on the splenic angle), size (less than 10 mm and 10 mm or more), shape (pediculate and sessile) and grade of dysplasia (low and high-grade). We calculated the strength of association by OR, and we determined whether there was association by Chi-square test with a significance value less than 0.05. Results: We reviewed a total of 1710 of colonoscopy reports, 378 patients had polyps, so the adenoma detection rate was 22.1%. There were 458 polyps, from which 254 were adenomas. From these adenomas, we found an association between distal colon localization and high-grade dysplasia (OR 2.68 IC 1.12-6.42, p<0.05); likewise, there was an association between the size of the adenomas and high-grade dysplasia (OR 7.75 IC 3.05-19.69, p<0.05). We did not find any association between the shape and grade of dysplasia. Conclusion: This study concludes that there is an association between the size of 10 mm or more and localization in the distal colon with high-grade dysplasia of adenomas.


Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , Adenoma/pathology , Colonic Polyps/pathology , Colonic Neoplasms/pathology , Organ Specificity , Cross-Sectional Studies , Colonoscopy , Intestinal Polyposis/pathology , Tumor Burden , Hyperplasia/pathology , Inflammation
7.
ImplantNewsPerio ; 2(3): 521-525, mai.-jun. 2017. ilus
Article in Portuguese | LILACS, BBO - Dentistry | 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
9.
Rev Gastroenterol Peru ; 37(4): 301-304, 2017.
Article in Spanish | MEDLINE | ID: mdl-29459798

ABSTRACT

OBJECTIVE: To determine whether localization and size are related to the presence of high-grade dysplasia of colon adenomas in patients of a Peruvian hospital. MATERIALS AND METHODS: This is a descriptive transversal study. We checked colonoscopyreports of 2014-2015 years of Hospital Daniel Alcides Carrion, we included the polyps found in patients older than 18 years old, and excluded reports from patients with colorectal cancer, an antecedent of oncological surgery, inflammatory bowel disease and polyposis (6 or more). We used data based on localization (proximal and distal colon, based on the splenic angle), size (less than 10 mm and 10 mm or more), shape (pediculate and sessile) and grade of dysplasia (low and high-grade). We calculated the strength of association by OR, and we determined whether there was association by Chi-square test with a significance value less than 0.05. RESULTS: We reviewed a total of 1710 of colonoscopy reports, 378 patients had polyps, so the adenoma detection rate was 22.1%. There were 458 polyps, from which 254 were adenomas. From these adenomas, we found an association between distal colon localization and high-grade dysplasia (OR 2.68 IC 1.12-6.42, p < 0.05); likewise, there was an association between the size of the adenomas and high-grade dysplasia (OR 7.75 IC 3.05-19.69, p<0.05). We did not find any association between the shape and grade of dysplasia. CONCLUSION: This study concludes that there is an association between the size of 10 mm or more and localization in the distal colon with high-grade dysplasia of adenomas.


Subject(s)
Adenoma/pathology , Colonic Neoplasms/pathology , Colonic Polyps/pathology , Adult , Aged , Aged, 80 and over , Colonoscopy , Cross-Sectional Studies , Female , Humans , Hyperplasia/pathology , Inflammation , Intestinal Polyposis/pathology , Male , Middle Aged , Organ Specificity , Tumor Burden , Young Adult
10.
Horiz. méd. (Impresa) ; 16(2): 27-32, abr.-jun. 2016. tab
Article in Spanish | LILACS, LIPECS | ID: biblio-834602

ABSTRACT

Objetivo: determinar la correlación entre el diagnóstico ecográfico y el resultado histopatológico de poliposis vesicularen los pacientes y encontrar el valor predictivo positivo de la ecografía en el diagnóstico de esta patología.Material y Métodos: Es una investigación no experimental, transversal, descriptiva y correlacional, realizada en unamuestra de 128 pacientes operados con diagnóstico de poliposis vesicular en la clínica Good Hope entre 2008 y 2014. Serevisaron los informes ecográficos e histopatológicos de estos pacientes y se buscó la relación mediante el coeficiente decorrelación de Spearman.Resultados: El 67,2% de la muestra correspondió al sexo femenino y el 32,8% al sexo masculino; la edad promedio fue de43,4 años. El 74,2% de los 128 casos presentó pólipos según el examen histopatológico, de los cuales el 94,7% fueronpseudopólipos y 84% fueron pólipos de colesterol; solo el 5,3% de los pólipos fueron verdaderos (adenomas) y ninguno deellos fue maligno, el pólipo más grande midió 13 mm. El valor predictivo positivo de la ecografía en el diagnóstico depoliposis vesicular fue 74.21%. La correlación entre el número de pólipos por ecografía e histopatología según elcoeficiente de Spearman fue muy baja, directa y significativa (Rho=0,189, p=0,032).Conclusión: Existe una correlación directa entre el diagnóstico ecográfico y el resultado histopatológico de poliposisvesicular; la ecografía puede considerarse como un método confiable para el diagnóstico de esta patología.


Objective: To determine the correlation between sonographic diagnosis and histopathological results of gallbladderpolyposis and find the positive predictive value of ultrasound in the diagnosis of this pathology.Material and Methods: It is a non experimental, transversal, descriptive and correlational study with a sample composedof all patients operated with a diagnosis of gallbladder polyps in the Good Hope Clinic between the years 2008 and 2014. Atotal of 128 patients were observed. Histopathological and sonographic reports of these patients were reviewed and thestatistical correlation of both studies was sought by the test of Spearman.Results: Reveals that 67,2% were females and 32,8% were males; the average age was 43,4 years; 74,2% presented polypsby histopathological examination, of which 94,7% were pseudopolyps, with 82 % cases of cholesterolpolyps, only 5,3% weretrue polyps (adenomas) and none of them were malignant. The positive predictive value of ultrasound in the diagnosis ofgallbladder polyposis was 74,21%. According to the Spearman coefficient the correlation between the number of polyps byultrasonography and histopathology was low, direct and significant (Rho = 0,189; p = 0,032).Conclusions: We conclude that there is a correlation between the ultrasound diagnosis and histopathological result ofgallbladder polyps and ultrasound can be considered a reliable method for the diagnosis of gallbladder polyps.


Subject(s)
Humans , Adult , Pathology , Intestinal Polyposis , Epidemiology, Descriptive , Cross-Sectional Studies
11.
Medwave ; 16(2): e6399, 2016 Mar 08.
Article in English, Spanish | MEDLINE | ID: mdl-27043896

ABSTRACT

This article seeks to explain the importance of violence as a social phenomenon and public health, trying to envision this issue not only from a curative approach to health, but from the social determinants of health, such as economics, politics and the administration of justice. Here, the younger population lacks real opportunities with an “absent State” that fails to provide structure. These frameworks play a fundamental role in the manifestation of violence. Thus, the debate for addressing and resolving violence opens the way to new perspectives regarding social factors as part of a public health, which cannot be oblivious to the state of the collective. Thus, the analysis of this situation shows that we cannot keep overlooking the whole picture of the real problem in the social health of our world instead of focusing on its discordant parts.


Este artículo pretende explicar la importancia de la violencia como fenómeno social y de salud pública, al tratar de vislumbrar este problema no sólo desde el enfoque curativo de la salud, sino desde los determinantes sociales en salud como lo económico, político, jurídico y demográfico, donde jóvenes carecen de oportunidades reales con un Estado en fuga. Todos estos son entramados que juegan un papel fundamental en la manifestación del hecho implícito de la violencia. Es así que el debatir respecto al abordaje y resolución de la violencia abre el camino a nuevas miradas respecto a lo social, como parte de una salud pública que no se puede alejar por completo de la situación real de los colectivos. Así, la entrada a esta situación demuestra que no podemos seguir mirando en forma discordante los problemas reales en salud social de nuestra sociedad.


Subject(s)
Public Health , Social Determinants of Health , Violence , Humans , Intestinal Polyposis , Mexico , Telangiectasia, Hereditary Hemorrhagic
13.
São Paulo; s.n; 2014. ilus.
Thesis in Portuguese | Inca | ID: biblio-940585

ABSTRACT

Atualmente, pacientes com múltiplos adenomas colorretais são avaliados paramutações germinativas em dois genes, APC e MUTYH. Pacientes com mutações em APC apresentam Polipose Adenomatosa Familiar Clássica ou Atenuada (FAP/AFAP), enquanto que pacientes portadores de mutações bialélicas em MUTYH apresentam Polipose Associada ao MUTYH (MAP). O espectro das mutações em APC e MUTYH, assim como as correlações genótipo-fenótipo nestas síndromes, apresentam importante impacto clínico e podem ser distintas em cada população, tornando necessária a obtenção de dados genéticos e clínicos de diferentes populações. Além disso, cerca de 10-15% dos pacientes com polipose não apresentam mutações nesses genes, o que sugere a existência de outros genes de predisposição ainda desconhecidos. Assim, os objetivos deste estudo foram caracterizar mutações germinativas nos genes APC e MUTYH em pacientes Brasileiros com polipose, além de identificar novos genes associados com a síndrome através de sequenciamento de exoma dos pacientes negativos. No total, 23 pacientes não relacionados foram avaliados para mutações pontuais na região codificante dos genes APC e MUTYH através de sequenciamento capilar, e para rearranjos genômicos nos mesmos genes por meio de MLPA (Multiplex Ligation-Dependent Probe Amplification), arrays de hibridação genômica comparativa (CGHarray), e PCR duplex quantitativo. Este último método de avaliação do número de cópias genômicas foi desenvolvido e validado no presente estudo. Foram identificados 21 pacientes mutados nesta coorte (91%) - 6 pacientes apresentaram mutações patogênicas em MUTYH, 14 apresentaram mutações patogênicas em APC e um paciente foi portador de uma nova variante missense de significado clínicodesconhecido em APC (p.Val1789Leu); seis mutações foram descritas pela primeira vez neste trabalho. Em um destes pacientes identificamos a primeira grande deleção genômica descrita no gene MUTYH. Correlações genótipo-fenótipo dos dados clínicos...


Patients with multiple colorectal adenomas are currently screened for germline mutations in two genes, APC and MUTYH. APC-mutated patients present classic or attenuated familial adenomatous polyposis (FAP/ AFAP), while patients carrying biallelic MUTYH mutations exhibit MUTYH-associated polyposis (MAP). The spectrum of APC and MUTYH mutations as well as the genotype-phenotype correlations in polyposis syndromes present clinical impact and can be population specific, making important to obtain genetic and clinical data from different populations. Furthermore, up to 10-15% of polyposis patients do not harbor mutations in these genes, suggesting that other yet unknown polyposis-predisposing genes could exist. Thus, the aim of this study was to characterize germline mutations in APC and MUTYH genes in Brazilian polyposis and to investigate novel susceptibility genes by exome sequencing of negative patients. At total, 23 unrelated polyposis patients were screened for APC/MUTYH point mutations through DNA capillary sequencing, and for APC and MUTYH genomic rearrangements throughMLPA (multiplex ligation-dependent probe amplification), array-comparativegenomic hybridization, and duplex quantitative PCR. This last gene dosage method was developed and validated in this study. We identified 21 mutated patients in this cohort (91%) – 6 patients carried MUTYH pathogenic mutations, 14 carried APC pathogenic mutations and one carried a novel APC missense variant of unknown clinical significance (p.Val1789Leu); six mutations were described for the first time in this series. One of these patients harbored the first large genomic deletion identified in MUTYH gene. Genotype-phenotype correlations of clinical data fromprobands and their affected relatives (113 individuals in total) revealed divergent results compared with those described in other studies, particularly regarding the occurrence of desmoid tumors in families...


Subject(s)
Colorectal Neoplasms , Genes, APC , Genetic Techniques , Intestinal Polyposis , Neoplastic Syndromes, Hereditary
14.
São Paulo; s.n; 2014. 117 p. ilus, tab, quadros.
Thesis in Portuguese | LILACS, Inca | ID: lil-756698

ABSTRACT

Atualmente, pacientes com múltiplos adenomas colorretais são avaliados para mutações germinativas em dois genes, APC e MUTYH. Pacientes com mutações em APC apresentam Polipose Adenomatosa Familiar Clássica ou Atenuada (FAP/AFAP), enquanto que pacientes portadores de mutações bialélicas em MUTYH apresentam Polipose Associada ao MUTYH (MAP). O espectro das mutações em APC e MUTYH, assim como as correlações genótipo-fenótipo nestas síndromes, apresentam importante impacto clínico e podem ser distintas em cada população, tornando necessária a obtenção de dados genéticos e clínicos de diferentes populações. Além disso, cerca de 10-15% dos pacientes com polipose não apresentam mutações nesses genes, o que sugere a existência de outros genes de predisposição ainda desconhecidos. Assim, os objetivos deste estudo foram caracterizar mutações germinativas nos genes APC e MUTYH em pacientes Brasileiros com polipose, além de identificar novos genes associados com a síndrome através de sequenciamento de exoma dos pacientes negativos. No total, 23 pacientes não relacionados foram avaliados para mutações pontuais na região codificante dos genes APC e MUTYH através de sequenciamento capilar, e para rearranjos genômicos nos mesmos genes por meio de MLPA (Multiplex Ligation-Dependent Probe Amplification), arrays de hibridação genômica comparativa (CGH-array), e PCR duplex quantitativo. Este último método de avaliação do número de cópias genômicas foi desenvolvido e validado no presente estudo. Foram identificados 21 pacientes mutados nesta coorte (91%) - 6 pacientes apresentaram mutações patogênicas em MUTYH, 14 apresentaram mutações patogênicas em APC e um paciente foi portador de uma nova variante missense de significado clínico desconhecido em APC (p.Val1789Leu); seis mutações foram descritas pela primeira vez neste trabalho. Em um destes pacientes identificamos a primeira grande deleção genômica descrita no gene MUTYH. Correlações genótipo-fenótipo dos dados...


Patients with multiple colorectal adenomas are currently screened for germline mutations in two genes, APC and MUTYH. APC-mutated patients present classic or attenuated familial adenomatous polyposis (FAP/ AFAP), while patients carrying biallelic MUTYH mutations exhibit MUTYH-associated polyposis (MAP). The spectrum of APC and MUTYH mutations as well as the genotype-phenotype correlations in polyposis syndromes present clinical impact and can be population specific, making important to obtain genetic and clinical data from different populations. Furthermore, up to 10-15% of polyposis patients do not harbor mutations in these genes, suggesting that other yet unknown polyposis-predisposing genes could exist. Thus, the aim of this study was to characterize germline mutations in APC and MUTYH genes in Brazilian polyposis and to investigate novel susceptibility genes by exome sequencing of negative patients. At total, 23 unrelated polyposis patients were screened for APC/MUTYH point mutations through DNA capillary sequencing, and for APC and MUTYH genomic rearrangements through MLPA (multiplex ligation-dependent probe amplification), array-comparative genomic hybridization, and duplex quantitative PCR. This last gene dosage method was developed and validated in this study. We identified 21 mutated patients in this cohort (91%) – 6 patients carried MUTYH pathogenic mutations, 14 carried APC pathogenic mutations and one carried a novel APC missense variant of unknown clinical significance (p.Val1789Leu); six mutations were described for the first time in this series. One of these patients harbored the first large genomic deletion identified in MUTYH gene...


Subject(s)
Humans , Genes, APC , Colorectal Neoplasms , Intestinal Polyposis , Neoplastic Syndromes, Hereditary , Genetic Techniques
15.
Acta Gastroenterol Latinoam ; 43(2): 126-9, 2013 Jun.
Article in English | MEDLINE | ID: mdl-23940913

ABSTRACT

Intestinal intussusception is infrequent in adults. Unlike what happens in kids, it shows a demonstrable etiology in most cases: polyps, lipomas, hamartomas, malignancies, etc. Among diagnostic methods, CT scan is the study that yields the best results for the diagnosis, giving forth pathognomonic signs and favoring therapeutic decision-making. Two cases of intestinal intussusception in adults secondary to benign pathology are analyzed, stressing mainly the tomographic findings and some considerations about therapeutic decision-making based on tomographic results.


Subject(s)
Ileal Diseases , Intestinal Polyposis , Intussusception , Adult , Female , Humans , Ileal Diseases/diagnostic imaging , Ileal Diseases/pathology , Intestinal Polyposis/diagnostic imaging , Intestinal Polyposis/pathology , Intussusception/diagnostic imaging , Intussusception/pathology , Male , Middle Aged , Tomography, X-Ray Computed
16.
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
17.
Med. U.P.B ; 32(1): 79-82, ene.-jun. 2013.
Article in Spanish | LILACS, COLNAL | ID: biblio-836841

ABSTRACT

El síndrome de Peutz-Jeghers (SPJ) es un trastorno poco frecuente, de herencia autosómica dominante, caracterizado por la asociación de pigmentación mucocutánea y poliposis intestinal, los cuales están presentes desde la infancia y, a veces, conduce a la invaginación intestinal o hemorragia gastrointestinal con predisposición considerable a la malignidad.


Peutz-Jeghers syndrome (PJS) is a rare disorder of autosomal dominant inheritance, characterized by the association of cutaneous and mucosal pigmentation and intestinal polyps, which are present from childhood and can sometimes lead to intussusception or gastrointestinal bleeding with significant predisposition to malignancy.


A síndrome de Peutz-Jeghers (SPJ) é um transtorno pouco frequente, de herança autosómica dominante, caracterizado pela associação de pigmentação mucocutánea e poliposis intestinal, os quais estão presentes desde a infância e as vezes pode conduzir à intussuscepção intestinal ou hemorragia gastrointestinal com predisposição considerável à malignidade.


Subject(s)
Humans , Peutz-Jeghers Syndrome , Syndrome , Pigmentation , Heredity , Intestinal Polyposis
18.
Acta gastroenterol. latinoam ; Acta gastroenterol. latinoam;43(2): 126-9, 2013 Jun.
Article in Spanish | LILACS, BINACIS | ID: biblio-1157367

ABSTRACT

Intestinal intussusception is infrequent in adults. Unlike what happens in kids, it shows a demonstrable etiology in most cases: polyps, lipomas, hamartomas, malignancies, etc. Among diagnostic methods, CT scan is the study that yields the best results for the diagnosis, giving forth pathognomonic signs and favoring therapeutic decision-making. Two cases of intestinal intussusception in adults secondary to benign pathology are analyzed, stressing mainly the tomographic findings and some considerations about therapeutic decision-making based on tomographic results.


Subject(s)
Ileal Diseases , Intussusception , Intestinal Polyposis , Adult , Ileal Diseases/diagnostic imaging , Ileal Diseases/pathology , Female , Humans , Intussusception/diagnostic imaging , Intussusception/pathology , Male , Middle Aged , Intestinal Polyposis/diagnostic imaging , Intestinal Polyposis/pathology , Tomography, X-Ray Computed
19.
Acta gastroenterol. latinoam ; 43(2): 126-9, 2013 Jun.
Article in Spanish | BINACIS | ID: bin-132989

ABSTRACT

Intestinal intussusception is infrequent in adults. Unlike what happens in kids, it shows a demonstrable etiology in most cases: polyps, lipomas, hamartomas, malignancies, etc. Among diagnostic methods, CT scan is the study that yields the best results for the diagnosis, giving forth pathognomonic signs and favoring therapeutic decision-making. Two cases of intestinal intussusception in adults secondary to benign pathology are analyzed, stressing mainly the tomographic findings and some considerations about therapeutic decision-making based on tomographic results.


Subject(s)
Ileal Diseases , Intestinal Polyposis , Intussusception , Adult , Female , Humans , Ileal Diseases/pathology , Ileal Diseases/diagnostic imaging , Intestinal Polyposis/pathology , Intestinal Polyposis/diagnostic imaging , Intussusception/pathology , Intussusception/diagnostic imaging , Male , Middle Aged , Tomography, X-Ray Computed
20.
Rev Gastroenterol Peru ; 32(2): 123-33, 2012.
Article in Spanish | MEDLINE | ID: mdl-23023174

ABSTRACT

Histological diagnosis determines the clinical behavior of colorectal polyps. Recently new types of polyps have been described and the classification has become wider and more complex. Our aim is update the current concepts in the knowledge of colorectal polyps.


Subject(s)
Colorectal Neoplasms/pathology , Intestinal Polyposis/pathology , Intestinal Polyps/pathology , Adenoma/pathology , Hamartoma/pathology , Humans , Hyperplasia/pathology , Intestinal Polyposis/etiology , Intestinal Polyps/etiology
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