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Biomedical subjects

J C Coelho

Publications and source records attributed to J C Coelho.

At least 19 recordsLinked to original sources
PubMed2006

Epstein-Barr virus-induced transformation of B cells for the diagnosis of genetic metabolic disorders--enumerative conditions for cryopreservation.

Epstein-Barr virus (EBV) infection in vitro causes transformation of B cells and generates B lymphoblastoid cell lines (LCLs). These LCLs have been widely used for the diagnostic of several genetic metabolic disorders. However, up to now, efficiency of LCL generation has been based on misleading subjective analysis. In this study, quantitative analyses have been performed to indicate efficiency of B-cell transformation to measuring human lysosomal acid hydrolases associated with: GM1-gangliosidosis type I, Gaucher disease and mucopolysaccharidosis type I. Peripheral blood mononuclear cells were isolated from 13 subjects, and LCLs were produced by culturing them with EBV for 12 days. Activities of the enzymes beta-galactosidase, beta-glucosidase and alpha-iduronidase were measured before and after cryopreservation in liquid nitrogen for 30 days. Efficiency of the B-cell transformation was screened every 4 days by the enumeration of cell proliferation, cell counts and changes in granularity estimated by flow cytometry. We observed the generation of 13 LCLs. Cell transformation was confirmed by the gradual increase of cellular clusters, cell size and granularity. In addition, we determined that the activity of the enzymes mentioned above did not change following cryopreservation. These data suggest that our enumerative approach for screening of EBV-LCLs is efficient for the enzymatic determination of human lysosomal acid hydrolases and may thus replace misleading subjective analyses.

Adult↗
PubMed2001

[Benign recurrent intrahepatic cholestasis: a seven-year follow-up report].

Benign recurrent intrahepatic cholestasis is a rare autosomal recessive disorder characterized by repeated episodes of intense pruritus and jaundice. Patients are completely asymptomatic for months to years between symptomatic periods. We report a case of a patient with a 7-year history of benign recurrent intrahepatic cholestasis. During the follow-up period the patient has suffered three attacks of cholestasis, confirmed by biochemical tests and histological exam. Liver enzymes were normal between the cholestasis episodes. Despite multiple attacks of cholestasis, no permanent liver damage has occurred. Although the diagnosis of benign recurrent intrahepatic cholestasis is rare, it should be included in the evaluation of a patient with cholestasis. The patients should be reassured of the benign course of this disorder.

Adult↗
PubMed2001

Detection of mucopolysaccharidosis type I heterozygotes on the basis of the biochemical properties of plasma alpha-L-iduronidase.

BACKGROUND: Mucopolysaccharidosis type I (MPS I) is a disease caused by deficiency of the enzyme alpha-L-iduronidase (IDUA). Since no treatment is currently available for this disorder, the detection of heterozygotes is very important for genetic counseling and prenatal diagnosis. The objective of the present study was to characterize plasma IDUA from MPS I heterozygotes in an attempt to distinguish it from that of normal individuals. METHODS: We determined the optimum pH, Km, Vmax and Calpha (Vmax/Km) of the reaction and the thermal stability of IDUA at 50 degrees C. RESULTS: MPS I heterozygotes can be separated from normal individuals on the basis of Km, Calpha and thermal stability of the enzyme. CONCLUSIONS: Taking into consideration the clinical status of the homozygous offspring, we were able to subdivide the MPS I heterozygotes into various subgroups (Hurler, Scheie or Hurler/Scheie compound), and verified that the Hurler subgroup had a lower optimum pH for IDUA activity than controls and other MPS I subgroups, and that all MPS I subgroups had higher Km and lower Calpha when compared to controls.

Enzyme Stability↗
PubMed2001

Surgical treatment of morbid obesity.

The prevalence of obesity is increasing rapidly, and it is a major health problem, especially in Western countries. Bariatric surgery causes significant and permanent weight loss and improves the quality of life. It ameliorates or eliminates most of the obesity-related comorbidities. Isolated gastric restriction procedures are technically easy to perform, the morbidity and mortality are low, but the weight loss is unsatisfactory in patients who ingest high-energy food. Combined gastric restriction with gastric bypass or intestinal malabsorption procedures cause greater weight loss, but more nutritional complications.

Developed Countries↗
PubMed2001

Acute cholecystitis secondary to hemobilia after percutaneous liver biopsy.

A case of obstructive acute cholecystitis following percutaneous liver biopsy is presented. The patient complained of intense and continuous pain in the right upper quadrant of the abdomen 2 days after the liver biopsy. On abdominal examination, Murphy's sign was present. Hemogram revealed a fall in the hematocrit level from 44 to 38 because of hemobilia. Ultrasonography showed a dilated gallbladder with moderate thickness of the wall and a blood clot of 20 x 9 mm inside. The patient was subjected to laparoscopic cholecystectomy. The acute inflammation of the gallbladder was secondary to obstruction of the cystic duct by the blood clot. The postoperative period was uneventful.

Acute Disease↗
PubMed2000

Characterization of beta-galactosidase in leukocytes and fibroblasts of GM1 gangliosidosis heterozygotes compared to normal subjects.

OBJECTIVES: Characterization of beta-galactosidase in leukocytes and fibroblasts of heterozygotes for GM1 type I. DESIGN AND METHODS: Leukocyte and fibroblast beta-galactosidase activity was determined fluorimetrically using 4-methylumbelliferyl-beta-D-galactoside as an artificial substrate. Optimum pH, Km, Vmax and thermostability of the enzyme at 42 degrees C were determined. RESULTS: The leukocyte and fibroblast enzyme of heterozygotes have an optimum pH of 4.0 and 4.2, respectively. In normal subjects, the optimum pH was 4.2 in both cells, according to previous studies. The Km of the enzyme of heterozygotes was determined to be 0.65 mM in leukocytes and 0.59 mM in fibroblasts. The Vmax was determined in 167.21 nmol/h/mg of protein in heterozygotes leukocytes and 541.2 nmol/h/mg of protein in heterozygotes fibroblasts compared to 291.7 and 1768.1 nmol/h/mg of protein in controls leukocytes and fibroblasts, respectively. When leukocyte and fibroblast heterozygote beta-galactosidase was preincubated at 42 degrees C, after 80 min the residual activity was determined to be 25 to 30% of the initial activity. These results are similar to the control group. CONCLUSIONS: We have found significant differences between the two groups in some investigated parameters. Both fibroblasts and leukocytes showed a virtually similar level of reliability as source of enzyme for the detection of heterozygotes.

Cells, Cultured↗
PubMed2000

Laparoscopic cholecystectomy to treat patients with asymptomatic gallstones.

BACKGROUND/AIMS: The management of patients with silent or asymptomatic gallstones remains controversial. The objective of this study is to determine the complications of laparoscopic cholecystectomy performed to treat patients under 50 years of age with asymptomatic gallstones. METHOD: 207 patients, 13-49 years of age with asymptomatic gallstones, were subjected to laparoscopic cholecystectomy. There were 161 (78%) women and 46 (22%) men. RESULTS: Operative time varied from 25 to 95 min, with an average of 42 min. The length of hospitalization varied from 12 h to 2 days. In no patient was the operation converted to laparotomy. There was neither mortality nor major complications. The following minor complications were observed: vomiting in 43 patients (20.7%), fever in 16 (7.7%), minor skin infection in 7 (3.3%), and keloid in 2 (0. 9%). CONCLUSION: It is concluded from this study that laparoscopic cholecystectomy is a safe procedure in the treatment of patients under 50 years of age with asymptomatic gallstones.

Adolescent↗
PubMed1999

Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis.

GM1-gangliosidosis is a lysosomal storage disease caused by a deficiency of acid beta-galactosidase. Three clinical forms are recognized-infantile, juvenile, and adult-based on age of onset and severity of the symptoms. We have performed molecular analysis of a large cohort of GM1 patients (19 Brazilian and one Uruguayan), using nonradioactive single-strand conformation polymorphism (SSCP) and restriction enzyme analysis of genomic DNA. Six novel mutations (R121S, V240M, D491N, 638-641insT, 895-896insC, 1622-1627insG) and two previously described point mutations (R59H, R208C) were identified. Together they accounted for 90% of the disease alleles of the patients. Two mutations, 1622-1627insG and R59H, were present in 18 of 20 patients. In addition, four polymorphisms (L10P, L12L, R521C, S532G) were identified. All cases reported are infantile GM1 gangliosidosis. This report constitutes the most comprehensive molecular study to date of this disorder in infantile patients. Since GM1-gangliosidosis is the most common lysosomal storage disorder in Southern Brazil, molecular diagnosis will be important for genetic counseling, carrier detection and prenatal diagnosis in index families.

Brazil↗
PubMed1999

Isolated tuberculosis of the pancreas after orthotopic liver transplantation.

A patient presented with intermittent high fever, upper abdominal pain, and loss of appetite 9 months after an orthotopic liver transplantation. Computed tomography showed a large mass in the pancreas that was confirmed at laparotomy. Pathological examination of the pancreatic biopsy specimen showed several chronic granulomatous lesions with caseating necrosis. Two and one half months after beginning antituberculous treatment, there was an important reduction of the pancreatic mass.

Adult↗
PubMed1999

Biochemical studies on leukocyte and fibroblast human beta-galactosidase.

OBJECTIVES: Some biochemical characteristics of the human leukocyte and fibroblast beta-galactosidase were studied. DESIGN AND METHODS: Leukocyte and fibroblast enzyme activity was determined fluorometricaly using 4-methylumbelliferyl-beta-D-galactoside as artificial substrate. Optimum pH, Km, Vmax and thermostability of the enzyme at 42 degrees C were determined. RESULTS: The leukocyte and fibroblast enzyme has an optimum pH at 4.2, which is in agreement with the lysosomal origin of the enzyme. The Km of the enzyme was 0.62 in leukocytes and 0.67 in fibroblasts, and Vmax was 289.9 nmol/h/mg of protein and 1779.2 nmol/h/mg of protein in the two tissues, respectively. When fibroblast or leukocyte beta-galactosidase was pre-incubated at 42 degrees C, it did not retain its activity because the residual activity after 80 minutes of pre-incubation at this temperature was lower than 30% of the initial activity both in leukocytes and fibroblasts. CONCLUSIONS: This was the first study of Km, Vmax and thermostability of beta-galactosidase performed on leukocytes and provided data for a better characterization of the enzyme beta-galactosidase, allowing the improvement of the analytical conditions.

Fibroblasts↗
PubMed1999

A multivariate model to determine prognostic factors in gastrointestinal fistulas.

BACKGROUND: Some studies have identified and selected factors that were associated with prognosis in patients with gastrointestinal fistulas, but a multivariate analysis to determine their relative importance and independent predictive value has not been done. The aim of this study was to determine independent prognostic factors for fistula closure and death in patients with gastrointestinal fistulas using a multivariate model. STUDY DESIGN: Several variables were assessed related to spontaneous closure, surgical closure, and mortality in 188 patients with digestive fistulas (duodenal 22.3%, jejunoileal 28.7%, colonic 23.9%, biliopancreatic 25%). Selection of the variables was done through a forward stepwise logistic regression procedure; the final models were used to estimate the probability of closure, either spontaneous or surgical, and the probability of death. RESULTS: Variables significant for spontaneous closure were: cause of the fistula (p = 0.027), fistula output (p = 0.037), institutional origin of the patient (p = 0.026), and occurrence of complications (p<0.001). Organ of origin of the fistula was only marginally significant (p = 0.068). Successful surgical closure was significantly associated with the presence of complications (p = 0.001) and was marginally associated with age (p = 0.069). Variables significant for death were fistula output (p = 0.009) and the presence of complications (p<0.001). CONCLUSIONS: We conclude that the likelihood of spontaneous fistula closure is higher for fistulas with surgical causes, low output, and with no complications. Mortality is higher in patients with complications and with high-output fistulas.

Adult↗
PubMed1999

Conversions and complications of laparoscopic treatment of gastroesophageal reflux disease.

BACKGROUND: Although several authors have documented the safety and efficacy of laparoscopic fundoplication, it is important to determine the rate of conversions and complications of this procedure. STUDY DESIGN: We retrospectively reviewed the protocol sheets of 503 consecutive patients with gastroesophageal reflux disease who underwent laparoscopic fundoplication over a period of 5 years. A Nissen-Rosetti procedure was performed in 492 patients (97.8%) and a Toupet procedure in 11 (2.2%). Sixty-four patients were also subjected to a concurrent cholecystectomy, and one patient had a concurrent cervical pharyngoesophageal diverticulectomy with cricopharyngeal myotomy. Thirty-one patients had previous upper abdominal operations. RESULTS: The period of hospitalization varied from 12 hours to 16 days, with an average of 1.2 days. The operation was converted to an open procedure in 10 patients (2%). The main cause of conversion was the presence of adhesions. The most frequent intraoperative complication was pneumothorax. All pneumothoraces occurred in the first 100 patients. Five patients had significant operative bleeding; two of them required laparotomy for bleeding control. Gastric ulcer was diagnosed in six patients. One alcoholic patient died of acute pancreatitis. Other major complications were two intraabdominal abscesses, one esophageal perforation, one sepsis from gastric perforation, one hemorrhagic shock, and one gastric obstruction from fundoplication herniation. CONCLUSIONS: Conversions and complications of laparoscopic fundoplication are low and decrease significantly with the surgeon experience, but severe and lethal complications may occur.

Adolescent↗
PubMed1999

Effect of dimethylsulfoxide on sphingomyelinase activity and cholesterol metabolism in Niemann-Pick type C fibroblasts.

Niemann-Pick type C (NPC) fibroblasts present a large concentration of cholesterol in their cytoplasm due to a still unidentified deficiency in cholesterol metabolism. The influence of dimethylsulfoxide (DMSO) on the amount of intracellular cholesterol was measured in 8 cultures of normal fibroblasts and in 7 fibroblast cultures from NPC patients. DMSO was added to the fibroblast cultures at three different concentrations (1, 2 and 4%, v/v) and the cultures were incubated for 24 h. Sphingomyelinase activity was significantly increased in both groups of cells only when incubated with 2% DMSO (59.4 +/- 9.1 and 77.0 +/- 9.1 nmol h-1 mg protein-1, controls without and with 2% DMSO, respectively: 47.7 +/- 5.2 and 55.8 +/- 4.1 nmol h-1 mg protein-1. NPC without and with 2% DMSO, respectively). However, none of the DMSO concentrations used altered the amount of cholesterol in the cytoplasm of NPC cells (0.704 +/- 0.049, 0.659 +/- 0.041, 0.688 +/- 0.063 and 0.733 +/- 0.088 mg/mg protein, without DMSO, 1% DMSO, 2% DMSO and 4% DMSO, respectively). This finding suggests that sphingomyelinase deficiency is a secondary defect in NPC and shows that DMSO failed to remove the stored cholesterol. These data do not support the use of DMSO in the treatment of NPC patients.

Analysis of Variance↗
PubMed1999

Laparoscopic treatment of duodenal diverticulum.

A patient with a history of intermittent and intense pain in the upper abdomen secondary to an ulcer of a duodenal diverticulum underwent laparoscopic treatment. The diverticulum measured 2.5 cm in diameter and it was located on the lateral wall of the second portion of the duodenum. The diverticulum was inverted and the duodenal muscular defect was closed with interrupted sutures. Ambulation and a clear liquid diet was started on the same day as the operation, and the patient was discharged on the first postoperative day.

Adult↗
PubMed1998

A genetic diagnostic survey in a population of 202 mentally retarded institutionalized patients in the south of Brazil.

The Associação dos Pais e Amigos dos Excepcionais (APAE) is an institution for mentally retarded patients located at Caxias do Sul in the south of Brazil. A genetic diagnostic survey of 202 individuals from this institution is presented. The patients had a male:female ratio of 1.3:1 and their ages varied from 1 month to 47 years with a mean of 5.5 years. Using personal and family data, careful clinical examination and laboratory investigation, the authors established a definitive diagnosis in 132 patients (65.34%). A constitutional disorder was present in 111 patients (54.95%). Down's syndrome patients represented 32.15%, while 1.98% had other chromosomal anomalies. In 25 patients (12.37%) a disorder of Mendelian inheritance was diagnosed. In 8 patients (3.96%) a multiple congenital anomalies/mental retardation (MCA/MR) syndrome was recorded. Eight patients (3.96%) had a central nervous system (CNS) malformation. An acquired condition was observed in 21 patients (10.39%), including pre- or post-natal infections. In the remaining 70 patients (34.65%) a conclusive diagnosis was not possible.

Adolescent↗
PubMed1997

Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism.

UNLABELLED: The number of diagnosed inborn errors of metabolism (IEM) is growing constantly due to the improvement and widespread availability of analytical techniques. In 1982, a laboratory for the detection of IEM was set up in Porto Alegre, Brazil, and became a national reference centre for the diagnosis of these disorders. Ten thousand patients with signs and symptoms suggestive of IEM were investigated in our laboratory from 1982 to 1995 using specific protocols which included tests for the detection of glucosaminoglycans (GAGS), amino acids, sugars, oligosaccharides, sialyloligosaccharides, organic acids, as well as various metabolite. The biochemical investigation was completed in 9,901 patients and an IEM was detected in 647 cases (6.5%). Groups of IEM of higher incidence in our sample were lysosomal storage disorders (59.8%) and aminoacidopathies (21.2%). The disorders most frequently diagnosed were classical phenylketonuria, GM1 gangliosidosis, mucopolysaccharidosis type I, mucopolysaccharidosis type VI and metachromatic leukodystrophy. CONCLUSION: This study shows that the establishment of reference centres for the investigation of rare genetic diseases is a suitable approach to the study of IEM in developing countries such as Brazil.

Brazil↗
PubMed1997

Polypectomy and endometrial resection in postmenopausal patients.

STUDY OBJECTIVE: To evaluate the therapeutic efficacy of polypectomy associated with endometrial resection for the treatment of polyps in postmenopausal women. DESIGN: Prospective study (Canadian Task Force classification II-2). SETTING: Private urban hospital with facilities for endoscopic surgery. PATIENTS: Sixty-six women with endometrial polyps. INTERVENTIONS: Sixty-four of the 66 patients underwent polypectomy followed by endometrial resection. One patient had hysterectomy because endometrial biopsy showed serous papillary carcinoma. MEASUREMENTS AND MAIN RESULTS: No major complications were associated with the procedure. Histopathology showed hyperplasia in most polyps. One patient had a papillary uterine carcinoma in the polyp that was not detected by preoperative endometrial biopsy. The women were followed with transvaginal sonography for 1 year after surgery. CONCLUSION: Polypectomy followed by endometrial resection is a very low-risk procedure for postmenopausal patients. There was no recurrence after the first year in women who completed follow-up.

Aged↗