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Papers by Demian A Fullerton
Revista médica de Chile, 2014
Revista médica de Chile, 2014
Rev Chil Cir, Dec 1, 2004
El objetivo de este trabajo es presentar el resultado de la primera proctocolectomía asistida por... more El objetivo de este trabajo es presentar el resultado de la primera proctocolectomía asistida por laparoscopía con reservorio íleo-anal efectuada en el Hospital Clínico de la Pontificia Universidad Católica de Chile, en una paciente de 21 años con poliposis adenomatosa familiar de ...
[Hereditary colorectal cancer: Molecular analysis of APC and MLH1 genes]
Revista médica de Chile, 2006
Among colorectal cancer hereditary variants, two syndromes show a predisposition to the disease b... more Among colorectal cancer hereditary variants, two syndromes show a predisposition to the disease based on germline mutations: Familial Adenomatous Polyposis (FAP) and Hereditary Nonpolyposis Colorectal Cancer (HNPCC). To screen mutations in FAP and HNPCC families in Chile. Two FAP and one HNPCC families were studied. The APC gene (for FAP patients) and the MLH1 gene (for HNPCC patients), were screened for mutations on genomic DNA. The molecular analysis was performed through polymerase chain reaction, Single Strand Conformer Polymorphism (SSCP) and DNA sequencing. Mutations were defined as changes in the DNA sequence leading into a stop codon and a truncated protein. In the two FAP families the analysis revealed a mutation consisting in the deletion of five nucleotides named c.3927_3931delAAAGA. The genetic study of the HNPCC family demonstrated the insertion of one adenine in codon 168 of exon 6, named c.504insA. Germ-line mutations were identified in the three families. The relevan...
[Screening colonoscopy among first degree relatives of patients with colorectal carcinoma]
Revista médica de Chile, 2006
First degree relatives of patients with colorectal carcinoma are at a higher risk of having the d... more First degree relatives of patients with colorectal carcinoma are at a higher risk of having the disease than the general population. Therefore, they should be subjected to screening colonoscopy. To assess the effectiveness of colonoscopy among first degree relatives of patients with colorectal carcinoma. A free colonoscopy was offered to first degree relatives of patients operated on for colorectal cancer between 1998 and 2000. As inclusion criteria, subjects had to be asymptomatic, older than 40 years or less than 10 years younger than the index case. Each subject was contacted twice, inviting him/her to have a colonoscopy performed. Two hundred forty three relatives were contacted for the study and in 76, a colonoscopy was performed. Among the latter, a neoplasm was found in 13 (17%): One adenocarcinoma and 12 adenomas. Three of these lesions were located in the right colon. The main reason given by the 176 subjects that did not agree to have a colonoscopy was lack of interest. Sc...
[Hereditary nonpolyposis colorectal cancer: surgical treatment and pedigree analysis]
Revista médica de Chile, 2004
Hereditary nonpolyposis colorectal cancer (HNPCC) accounts for 3 to 5% of all colorectal cancer (... more Hereditary nonpolyposis colorectal cancer (HNPCC) accounts for 3 to 5% of all colorectal cancer (CC). It is an autosomal dominant syndrome with 80% of penetrance for this disease. To analyze the pedigree and surgical treatment of HNPCC. We retrospectively analyzed our database of CC selecting patients with HNPCC according to clinical criteria (Amsterdam II). We characterized our patient's pedigrees with telephonic interviews. From 1111 patients operated on with CC we identified 13 (1.17%) with HNPCC. The mean age at diagnosis was 41.6 years (range: 23-75). Sixty two percent presented in International Union Against Cancer (UICC) stages I or II and none in stage IV. Seventy one percent of tumors were proximal to splenic flexure. In 5 patients the diagnosis of HNPCC was made postoperatively, after diagnosis of CC in their relatives. In all but one of the 8 patients with preoperative diagnosis of HNPCC, we performed a total colectomy. From the remaining 6 patients with partial colec...
[Atypical presentation of a colorectal carcinoma]
Revista médica de Chile, 2004
We report a 67 years old male with a history of pulmonary tuberculosis at the age of 15, that con... more We report a 67 years old male with a history of pulmonary tuberculosis at the age of 15, that consults for malaise, weight loss and productive cough. Chest X ray examination showed a left pleural effusion. A pleural tap obtained a sterile exudate. A thorax CAT scan showed a proliferating mass in the splenic angle of the colon, with left lung and diaphragmatic invasion. Endoscopic biopsies confirmed the diagnosis of adenocarcinoma. The patient underwent a subtotal colectomy with partial excision of diaphragm and left lung. The pathological report showed a mucosecretory adenocarcinoma, infiltrating the pericolonic adipose tissue without adjacent organ infiltration and a chronic inflammatory process involving colonic serosa, diaphragm pleura, and lung. Adjuvant chemotherapy was indicated and the patient is asymptomatic and without evidences of tumor recurrence after a 24 months follow up.
Cáncer colorrectal hereditario: análisis molecular de los genes APC y MLH1
Revista médica de Chile, 2006
Background: Among colorectal cancer hereditary variants, two syndromes show a predisposition to t... more Background: Among colorectal cancer hereditary variants, two syndromes show a predisposition to the disease based on germline mutations: Familial Adenomatous Polyposis (FAP) and Hereditary Nonpolyposis Colorectal Cancer (HNPCC). Aim: To ...
Estudio endoscópico en familiares de primer grado de pacientes operados por cáncer colorrectal
Revista médica de Chile, 2006
Evolución de los pacientes con enfermedad de Crohn de colon operados con el diagnóstico de colitis ulcerosa
Revista chilena de cirugía, 2008
Revista chilena de cirugía, 2007
Cáncer colorrectal de presentación atípica
Revista médica de Chile, 2004
Revista Medica De Chile, 2014
Revista médica de Chile, 2014
Revista médica de Chile, 2014
Rev Chil Cir, Dec 1, 2004
El objetivo de este trabajo es presentar el resultado de la primera proctocolectomía asistida por... more El objetivo de este trabajo es presentar el resultado de la primera proctocolectomía asistida por laparoscopía con reservorio íleo-anal efectuada en el Hospital Clínico de la Pontificia Universidad Católica de Chile, en una paciente de 21 años con poliposis adenomatosa familiar de ...
[Hereditary colorectal cancer: Molecular analysis of APC and MLH1 genes]
Revista médica de Chile, 2006
Among colorectal cancer hereditary variants, two syndromes show a predisposition to the disease b... more Among colorectal cancer hereditary variants, two syndromes show a predisposition to the disease based on germline mutations: Familial Adenomatous Polyposis (FAP) and Hereditary Nonpolyposis Colorectal Cancer (HNPCC). To screen mutations in FAP and HNPCC families in Chile. Two FAP and one HNPCC families were studied. The APC gene (for FAP patients) and the MLH1 gene (for HNPCC patients), were screened for mutations on genomic DNA. The molecular analysis was performed through polymerase chain reaction, Single Strand Conformer Polymorphism (SSCP) and DNA sequencing. Mutations were defined as changes in the DNA sequence leading into a stop codon and a truncated protein. In the two FAP families the analysis revealed a mutation consisting in the deletion of five nucleotides named c.3927_3931delAAAGA. The genetic study of the HNPCC family demonstrated the insertion of one adenine in codon 168 of exon 6, named c.504insA. Germ-line mutations were identified in the three families. The relevan...
[Screening colonoscopy among first degree relatives of patients with colorectal carcinoma]
Revista médica de Chile, 2006
First degree relatives of patients with colorectal carcinoma are at a higher risk of having the d... more First degree relatives of patients with colorectal carcinoma are at a higher risk of having the disease than the general population. Therefore, they should be subjected to screening colonoscopy. To assess the effectiveness of colonoscopy among first degree relatives of patients with colorectal carcinoma. A free colonoscopy was offered to first degree relatives of patients operated on for colorectal cancer between 1998 and 2000. As inclusion criteria, subjects had to be asymptomatic, older than 40 years or less than 10 years younger than the index case. Each subject was contacted twice, inviting him/her to have a colonoscopy performed. Two hundred forty three relatives were contacted for the study and in 76, a colonoscopy was performed. Among the latter, a neoplasm was found in 13 (17%): One adenocarcinoma and 12 adenomas. Three of these lesions were located in the right colon. The main reason given by the 176 subjects that did not agree to have a colonoscopy was lack of interest. Sc...
[Hereditary nonpolyposis colorectal cancer: surgical treatment and pedigree analysis]
Revista médica de Chile, 2004
Hereditary nonpolyposis colorectal cancer (HNPCC) accounts for 3 to 5% of all colorectal cancer (... more Hereditary nonpolyposis colorectal cancer (HNPCC) accounts for 3 to 5% of all colorectal cancer (CC). It is an autosomal dominant syndrome with 80% of penetrance for this disease. To analyze the pedigree and surgical treatment of HNPCC. We retrospectively analyzed our database of CC selecting patients with HNPCC according to clinical criteria (Amsterdam II). We characterized our patient's pedigrees with telephonic interviews. From 1111 patients operated on with CC we identified 13 (1.17%) with HNPCC. The mean age at diagnosis was 41.6 years (range: 23-75). Sixty two percent presented in International Union Against Cancer (UICC) stages I or II and none in stage IV. Seventy one percent of tumors were proximal to splenic flexure. In 5 patients the diagnosis of HNPCC was made postoperatively, after diagnosis of CC in their relatives. In all but one of the 8 patients with preoperative diagnosis of HNPCC, we performed a total colectomy. From the remaining 6 patients with partial colec...
[Atypical presentation of a colorectal carcinoma]
Revista médica de Chile, 2004
We report a 67 years old male with a history of pulmonary tuberculosis at the age of 15, that con... more We report a 67 years old male with a history of pulmonary tuberculosis at the age of 15, that consults for malaise, weight loss and productive cough. Chest X ray examination showed a left pleural effusion. A pleural tap obtained a sterile exudate. A thorax CAT scan showed a proliferating mass in the splenic angle of the colon, with left lung and diaphragmatic invasion. Endoscopic biopsies confirmed the diagnosis of adenocarcinoma. The patient underwent a subtotal colectomy with partial excision of diaphragm and left lung. The pathological report showed a mucosecretory adenocarcinoma, infiltrating the pericolonic adipose tissue without adjacent organ infiltration and a chronic inflammatory process involving colonic serosa, diaphragm pleura, and lung. Adjuvant chemotherapy was indicated and the patient is asymptomatic and without evidences of tumor recurrence after a 24 months follow up.
Cáncer colorrectal hereditario: análisis molecular de los genes APC y MLH1
Revista médica de Chile, 2006
Background: Among colorectal cancer hereditary variants, two syndromes show a predisposition to t... more Background: Among colorectal cancer hereditary variants, two syndromes show a predisposition to the disease based on germline mutations: Familial Adenomatous Polyposis (FAP) and Hereditary Nonpolyposis Colorectal Cancer (HNPCC). Aim: To ...
Estudio endoscópico en familiares de primer grado de pacientes operados por cáncer colorrectal
Revista médica de Chile, 2006
Evolución de los pacientes con enfermedad de Crohn de colon operados con el diagnóstico de colitis ulcerosa
Revista chilena de cirugía, 2008
Revista chilena de cirugía, 2007
Cáncer colorrectal de presentación atípica
Revista médica de Chile, 2004
Revista Medica De Chile, 2014