Liver steatosis in hypobetalipoproteinemia. A case report.

A case of hypobetalipoproteinemia is described; a 16-year-old girl had been suffering for nearly 2 years from diffuse abdominal pain. The only clinical features were liver steatosis, slightly increased amino transferases and an incipient polyneuropathy. No sign of malabsorption or gastrointestinal disease was found.

Familial lecithin: cholesterol acyltransferase (LCAT) deficiency. An updated review Spring 1988.

Familial lecithin:cholesterol acyltransferase (LCAT) deficiency is a well-defined inborn error of metabolism, where the enzymatic deficiency (LCAT) has been clarified and also the chromosomal defect (chromosome 16q22) is localized. The disease is to-day known all around the world and 50 patients from 26 families are known to-day. Corneal opacities have been found in all patients and appear early in life.

A study of the structure of the gene for lecithin: cholesterol acyltransferase in four unrelated individuals with familial lecithin: cholesterol acyltransferase deficiency.

1. We have used polyclonal antibodies and a complementary DNA clone for human lecithin:cholesterol acyltransferase (LCAT) to study LCAT protein and the structure of the LCAT gene, respectively, in patients with familial LCAT deficiency from Norway, Ireland, Germany and Italy. 2.

The isolation and characterisation of a cDNA clone for human lecithin:cholesterol acyl transferase and its use to analyse the genes in patients with LCAT deficiency and fish eye disease.

We have isolated cDNA clones coding for human lecithin:cholesterol acyl transferase (LCAT) from a liver-specific cDNA library by the use of two oligonucleotide probes based on the protein sequence. The clones span the sequence coding for the entire secreted LCAT, the 3' untranslated sequence and 12 amino acids of the signal peptide. The peptide sequence contains the conserved active site of serine lipases within a hydrophobic domain, flanked by a possible amphipatic alpha-helix.

Primary sclerosing cholangitis: a long-term follow-up study.

During the 10-year period from 1 January 1975 to 31 December 1984, primary sclerosing cholangitis (PSC) was diagnosed in 45 patients. Twelve of the patients have died (26.7%), 10 of them of causes related to PSC.

Epidemiology of polyps in the rectum and sigmoid colon. Evaluation of nutritional factors.

Epidemiological studies have suggested an association between diet and colorectal cancer. Case/control studies, however, have been scarce, and studies based on interview with cancer patients who have symptoms from their cancer are inevitably prone to bias. An endoscopic population screening study for detection of colorectal adenomas enabled a double-blind registration of diet during 5 consecutive weekdays.

Liver transplantation in a 23-year-old tyrosinaemia patient: effects on the renal tubular dysfunction.

Orthotopic liver transplantation was performed on a 23-year-old female with hereditary tyrosinaemia. The disorder was diagnosed at 7 years of age due to severe rickets, and the patient was treated with a diet restricted in phenylalanine and tyrosine. Nineteen months before the transplantation she had an acute episode of diffuse gastrointestinal bleeding due to portal hypertension.

Crohn's disease. Treatment and outcome.

Two hundred and fourteen patients with Crohn's disease (CD) were observed for a mean of 9 years. Colonic CD was diagnosed in 25%, small-bowel CD in 17.5%, and ileocolic CD in 57% of the patients.

Epidemiology of polyps in the rectum and sigmoid colon. Histological examination of resected polyps.

In an endoscopic screening study of rectosigmoidal polyps in a defined normal population aged 50-59 years, polyps 5 mm or larger in diameter were removed by diathermic snare resection for histological examination. Histological examination was possible in 50 of 55 polyps removed during colonoscopy from 27 men and 17 women. Of these polyps 41 (82%) were adenomas--12 with moderate dysplasia, 1 with severe dysplasia, and 2 with intramucosal carcinoma.

Crohn's disease. Clinical manifestations.

Two hundred and fourteen patients with Crohn's disease (CD) consecutively admitted during a 5-year period were observed for a mean of 9 years (range, 0-35 years). Sixty-five per cent had their initial symptoms between 10 and 30 years of age and 9.2% after the age of 50 years.

Crohn's disease. Diagnostic procedures and problems.

Two hundred and fourteen patients with Crohn's disease (CD) were investigated by radiological methods, endoscopy, and histological examinations of multiple biopsy and surgical specimens. Radiological lesions suggestive of CD were found in all patients with small-bowel disease but in less than half of those with large-bowel CD. Endoscopic findings were conclusive in 36% of patients with small-bowel disease, in 91% of those with small- and large-bowel disease, and in 86% of those with CD of the large bowel.

Diagnostic value of gastrointestinal endoscopy in patients with uncharacteristic abdominal disorders.

Endoscopic examinations were performed in 50 patients admitted for uncharacteristic abdominal disorders. Despite previous hospitalizations for the same complaints, no certain diagnosis had been established. Endoscopic retrograde cholangiopancreatography and colonoscopy were performed systematically, whereas gastroscopy was performed only on special indications.

A prospective study of patients with uncharacteristic abdominal disorders.

A prospective study was carried out in 51 patients admitted for abdominal complaints of at least 1 year's duration. Despite previous hospitalization for the same complaints, no certain diagnosis had been established. After systematic diagnostic procedures in the Medical Dept.

Epidemiology of polyps in the rectum and sigmoid colon. Design of a population screening study.

The design of a population screening study, including endoscopic screening for polyps in the rectum and sigmoid colon, was tested in a defined population sample of 200 women and 200 men aged 50-59 years. The attendance rate was 81%. A simple bowel cleansing procedure performed immediately before the examination gave satisfactory conditions for endoscopic examination in 94% of attendants.

A study of the small spherical high density lipoproteins of patients afflicted with familial lecithin: cholesterol acyltransferase deficiency.

We studied the effects of the lecithin:cholesterol acyltransferase reaction on the size and composition of the small spherical high density lipoproteins of patients afflicted with familial lecithin:cholesterol acyltransferase deficiency. We isolated these lipoproteins by preparative ultracentrifugation and rate zonal ultracentrifugation, determined their diameter by gradient gel electrophoresis, and then calculated their composition by relating measurements of their lipid and apolipoprotein content to particle volume. Our results revealed lipoprotein particles 6.

Abdominal ultrasonography in patients with uncharacteristic abdominal symptoms.

Ultrasonography (US) was performed in a prospective study of 48 patients with uncharacteristic abdominal symptoms. All patients had been examined in other hospitals, but no diagnosis had been established. Pathologic US findings were encountered in five patients: fatty liver in two patients, gallstones in one patient, ovarian cyst in one, and liver metastases in another patient.

Computer tomography of the abdomen in patients with uncharacteristic abdominal disturbances.

Computer tomography (CT) was performed on 48 patients with uncharacteristic abdominal disturbances. Pathological CT findings were encountered in five patients, namely hepatic steatosis in three patients, liver metastases in one, and occlusion of the inferior vena cava in one. CT may be indicated in patients with uncharacteristic abdominal disorders when other investigations are negative.