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E Gjone

Publications and source records attributed to E Gjone.

At least 19 recordsLinked to original sources
PubMed1991

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. She had extremely low levels of cholesterol and triacylglycerol in her serum, slightly decreased serum phospholipids and normal HDL-cholesterol levels. Apolipoprotein B-100 was approx. 8% of normal, whereas B-48 was present at essentially normal levels. Electron microscopy of lipoprotein particles showed normal morphology of LDL. Examination of close relatives showed no abnormalities. Southern blots revealed no major deletions or rearrangements at the genomic level. Although rare, a- and hypobetalipoproteinemia should be considered as possible etiologies in patients with unexplained steatosis in the liver.

Adolescent↗
PubMed1988

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 patients had low levels of non-functional LCAT protein in their serum as measured by rocket immunoelectrophoresis; its mol. wt. of approximately 68,000 was identical with that of LCAT in normal plasma, as judged by immunoblotting. 3. Enzymatic digestion of DNA samples from the patients produced LCAT gene fragments which were indistinguishable from those found in normal individuals. 4. We conclude that LCAT deficiency in these patients is not caused by a large deletion or rearrangement of the LCAT gene sequences.

Genes↗
PubMed1988

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. The opacities have a characteristic appearance which makes it rather easy to get the correct diagnosis of this disease. Near the limbus, a pronounced opacity of annular shape resembling a marked arcus lipoides senilis occurs. The opacities are composed of numerous minute grayish dots and are localized to the parenchyma and evenly distributed in all layers of the stroma. In polarized light, crystals that may be cholesterol have been seen in both cornea and the fundus. Excess unesterified cholesterol and phospholipid has been found in cornea. The disease is also characterized by slight anemia and proteinuria and sometimes lipemic plasma, but patients without anemia and proteinuria have also been described. All lipoproteins are abnormal in familial LCAT deficiency. The individual lipoprotein fractions are all heterogeneous and characterized by a higher amount of free cholesterol than normal. Rapidly developing renal insufficiency in adult age often appears in this type of familial renal disease. Kidney transplantation may be necessary. LCAT has now been characterized as a glycoprotein with 416 aminoacids + hydrophobic leader sequence of 24 aminoacids and an apparent Mr of 63 kD. Plans exist to proceed with genomic cloning of the LCAT gene from normal DNA and from various patients.

Chromosomes, Human, Pair 16↗
PubMed1987

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. Only one gene for LCAT could be detected in genomic blots. We have used the cDNA as a probe to analyse the LCAT gene in patients suffering from LCAT deficiency and fish eye disease. No rearrangements or abnormal gene fragments were detected in these patients.

Amino Acid Sequence↗
PubMed1987

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. Inflammatory bowel disease was found in all patients; ulcerative colitis was found in 37, Crohn's disease in 6, and unclassified colitis in 2 patients. Of the patients alive, 27 were submitted to a follow-up study in 1985. At the follow-up examination no general progression of the liver disease, as measured on the basis of clinical examination and levels of transaminases, alkaline phosphatases, and bilirubin, was found. Cholangiographic evaluation in 24 patients showed that the stage of ductal changes progressed from mild to moderate in 3 patients; in the other patients the stage was not altered. Morphologic examination of liver biopsy specimens in patients with a benign clinical course usually showed portal inflammation, fibrosis, and minor signs of piecemeal necrosis, whereas widespread piecemeal necrosis was found in patients who deteriorated and died. The 50% survival since diagnosis of liver disease was calculated to be 17 years in patients with PSC and 50 years in a comparable group among the general population. The estimated survival curve in PSC was displaced to the left, indicating a reduced life expectancy of about 30 years.

Adolescent↗
PubMed1986

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. Three subsequent bleeding episodes with accompanying ascites and signs of encephalopathy were considered life-threatening. Nine months after the liver transplantation the patient is well, but serum transaminases are slightly elevated. Without dietary restrictions serum tyrosine and inorganic phosphate are normalized, no succinylacetone can be detected in serum, and urinary excretion of p-hydroxyphenyllactate and p-hydroxyphenylpyruvate is normal. Excretion of amino acids, glucose and beta 2-microglobulin decreased significantly after the transplantation but is still elevated. The succinylacetone concentration in urine is about 20% of the preoperative level. After an oral tyrosine load, succinylacetone excretion increased sevenfold but no deterioration of the renal tubular function was observed and no tyrosine metabolites were detectable in serum. The findings indicate that the defective tyrosine metabolism occurs in the kidneys, but does not produce tubular dysfunction. The residual tubular dysfunction of the patient is probably due to irreversible damage of the tubular epithelium.

Adult↗
PubMed1986

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. Neither the participant nor the dietitian was informed of the findings at endoscopy. The estimation of 23 nutritional components was based on analysis of local commercial food and on the composition of foods in Norway. Results showed increasing consumption of fat and decreasing consumption of fiber and cruciferous vegetables in the presence of increasing neoplastic changes. The present material will form the basis for dietary-related follow-up studies.

Colonic Neoplasms↗
PubMed1985

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. The cumulative operation rates at 10 years were 47%, 58%, and 71%, respectively. Patients with isolated colonic CD were operated on later in the course of their illness than others (p less than 0.05 at 10 years). More than 50% of the patients remained in the 'well being' group regardless of the duration and localization of the disease. The quality of life was better in the non-operated than in the operated group of patients (p less than 0.02). Large-bowel carcinomas occurred in three patients. Of six deaths related to CD, two were caused by cancer and three by renal failure due to amyloidosis. The total number of deaths was 3.6 times that expected.

Amyloidosis↗
PubMed1985

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. Histological examinations of biopsy specimens were conclusive in less than one third of the patients. Histological examination of operative specimens, however, was conclusive in 90-100% of all patients. In 43 patients initially diagnosed as having ulcerative colitis, abdominal pain was less frequent, but diarrhea and visible blood were more frequent as initial symptoms. Of these patients, 21 had combined small- and large-bowel disease at the end of the observation time. In intestinal CD, multiple biopsy specimens may disclose Crohn-specific lesions even in endoscopically normal mucosa at a distance from visible lesions.

Colitis, Ulcerative↗
PubMed1985

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. The CD diagnosis was delayed for more than 10 years in 8% (mean, 4.5; range, 0-31 years). Large-bowel involvement was seen in 82.5% and was the only localization of the disease in a fourth of the patients. Recurrent abdominal pain occurred in two-thirds of patients with ileal or ileocolic disease. Acute abdominal pain was the cause of laparotomy in 14% of the patients with ileocolic CD. Diarrhea and rectal bleeding occurred significantly more often in colonic CD, whereas fistula complicated ileocolic disease more often than isolated involvement of small or large bowel. Associated extraintestinal diseases were seen in 117 patients (55%), most frequently related to colonic involvement (joint disease, 21%; eye, 12%, skin, 8%). Of 26 patients (12%) with liver pathology, 10 patients had amyloid deposits. Amyloidosis was diagnosed in altogether 12 patients (6%).

Adolescent↗
PubMed1985

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. In addition, a small ulcerating carcinoma, Dukes stage A, was found. A greater extent of dysplasia was found in rectosigmoidal adenomas in women, whereas more polyps were found in both distal and proximal parts of the colon among men. The size of adenomas and degree of dysplasia were unrelated to color of the lesions.

Adenoma↗
PubMed1985

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., Rikshospitalet, 33 patients were given a psychosomatic and 18 patients an organic primary diagnosis. The organic diseases were three cases of Crohn's disease, two of cancer, two of duodenal ulcers, one of gastric ulcer, two of gastroduodenitis, five of postresection syndrome, one of lactose intolerance, one of hyperthyroidism, and one of degeneration of the columna. The patients' condition was registered after 1 year of individual treatment. There was a significant decrease in the number of symptoms, in the psychosomatic score of anxiety, depression, and stress, and in days on sick leave and consultation with physicians in connection with the second compared with the first hospitalization for the whole group, for the psychosomatic group, and for the patients with upper gastrointestinal disease. Increased vitality based on muscular testing was also indicated in the same groups of patients. The study suggests that patients with uncharacteristic abdominal disorders may need a thorough examination at least once in the course of their illness; on the one hand, this may help patients with psychosomatic disease to cope better with their problems, and, on the other hand, primary organic lesions may be difficult to diagnose on the grounds of simple screening procedures.

Adolescent↗
PubMed1985

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. Of the 18 patients in whom a primary organic disease was diagnosed, duodenoscopy was of importance in 1 (duodenal cancer), colonoscopy in 3, and gastroscopy in 8 patients. In addition, colonoscopy verified the psychosomatic diagnosis in a patient with melanosis. In the rest of the material cannulation of the pancreatic duct (n = 36) or bile duct (n = 33), colonoscopy (n = 42), or gastroscopy (n = 21) did not show signs relevant to the patients' symptoms. Several of these signs, such as polyps or gallstones, together with the importance of negative examinations in the diagnosis of many patients, add to the value of endoscopic procedures in patients with uncharacteristic abdominal disturbances.

Adolescent↗
PubMed1985

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. Polyp prevalence was 35%. The present material and results represent the basis for further follow-up studies of risk factors for the development of cancer in the same group of individuals.

Colonic Polyps↗