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Constrictive Pericarditis (CP) is an unusual disease. Its most common causes are idiopathic or secondary to cardiac surgery. Less frequently it is caused by connective tissue diseases. We report a 30 years old woman hospitalized due to progressive dyspnea, chest pain and signs of right sided heart failure. During her stay, a Systemic Lupus Erythematosus (SLE) was diagnosed. The echocardiogram suggested a CP and the diagnosis was confirmed by cardiac catheterization. Pericardiectomy was successfully performed. The biopsy confirmed a nonspecific chronic pericarditis, with extensive fibrosis and absence of caseating granulomas. The patient had a satisfactory recovery.

Constrictive Pericarditis (CP) is an unusual disease. Its most common causes are idiopathic or secondary to cardiac surgery. Less frequently it is caused by connective tissue diseases. We report a 30 years old woman hospitalized due to progressive dyspnea, chest pain and signs of right sided heart failure. During her stay, a Systemic Lupus Erythematosus (SLE) was diagnosed. The echocardiogram suggested a CP and the diagnosis was confirmed by cardiac catheterization. Pericardiectomy was successfully performed. The biopsy confirmed a nonspecific chronic pericarditis, with extensive fibrosis and absence of caseating granulomas. The patient had a satisfactory recovery.

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 relevance of these studies in a better knowledge of cancer susceptibility, and the possibility of identifying in relatives in risk by molecular diagnosis.

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.Screening colonoscopy is effective to detect adenoma and adenocarcinoma among first degree relatives of patients with colorectal carcinoma, however only 31% of all potential relatives agreed to undergo a colonoscopy.

Background: 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. Aim: To assess the effectiveness of colonoscopy among first degree relatives of patients with colorectal carcinoma. Material and methods: 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. Results: 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. Conclusions: Screening colonoscopy is effective to detect adenoma and adenocarcinomaamong first degree relatives of patients with colorectal carcinoma, however only 31% of all potential relatives agreed to undergo a colonoscopy (Rev Med Chile 2006; 134: 997-1001). (Key words: Colonic neoplasms; Colonoscopy; Rectal neoplasms)

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.

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 (Rev Méd Chile 2004; 132: 985-88)

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 colectomy, 2 developed metachronic CC. Two patients died of cancer. From 101 persons in the 4 families, 25 have developed neoplasia: 18 CC, 3 endometrial cancer and 4 other tumors. Twenty eight relatives were eligible for colonoscopic screening, but only 21% of them have been screened appropriately.Preoperative diagnosis should change the surgical treatment of HNPCC, preventing metachronic disease. Primary colonoscopic screening allowed us to diagnose CC in early stages, nonetheless most of eligible relatives have not followed recommended frequency for colonoscopy.

Background: 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. Aim: To analyze the pedigree and surgical treatment of HNPCC. Patients and methods: 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. Results: 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 colectomy, 2 developed metachronic CC. Two patients died of cancer. From 101 persons in the 4 families, 25 have developed neoplasia: 18 CC, 3 endometrial cancer and 4 other tumors. Twenty eight relatives were eligible for colonoscopic screening, but only 21% of them have been screened appropriately. Conclusions: Preoperative diagnosis should change the surgical treatment of HNPCC, preventing metachronic disease. Primary colonoscopic screening allowed us to diagnose CC in early stages, nonetheless most of eligible relatives have not followed recommended frequency for colonoscopy (Rev Med Chile 2004; 132: 539-47). (Key Words: Colonic neoplasms; Pedigree; Rectal neoplasms)