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Biomedical subjects

S Refsum

Publications and source records attributed to S Refsum.

At least 37 records · Page 2Linked to original sources
PubMed1979

Repair of hiatus hernia by an abdominal semi-fundoplication technique.

The results of an anti-reflux operation are reviewed. The procedure is similar to the Belsey Mark IV operation, a semi-fundoplication, but performed via an abdominal approach. Forty-five patients were operated upon between 1971 and 1977, 41 had a sliding hernia and 4 a para-oesophageal hernia. Two patients died during the observation period. The follow-up of the remaining 43 patients includes clinical, radiological and manometric examinations. The length of follow-up averaged 35 months (7--70 months). There were 6 anatomic recurrences or persisting sliding hernia and one recurrence of paraoesophageal hernia. Three of the patients with recurrence had been subjected to parietal cell vagotomy and hernia repair, and one was a primary technical failure with persisting hernia. In 32 technically successful repairs of sliding hernia performed as a primary procedure without concomitant PCV, there was one recurrence. Subjectively, 93% (40/43) of the patients considered the operative result excellent or good. Manometric studies showed a significant rise in the lower oesophageal sphincter pressure, from a median value of 6.5 mmHg preoperatively to 12.5 mmHg postoperatively (p less than 0.05) (median value in normal controls, 15.3 mmHg).

Abdomen↗
PubMed1978

Giant pseudopolyposis causing colonic obstruction. Report of a case seemingly associated with Crohn's disease of the colon.

Gian pseudopolyposis is uncommon and only one obstructive case has previously been reported. In that case the underlying disease was ulcerative colitis while the present case seemed associated with Crohn's disease. Clinically this condition imitates a malignant tumour, and because of the rarity we failed to reach the right preoperative diagnosis in spite of correct colonoscopy and biopsy findings.

Colonic Diseases↗
PubMed1977

[Heredopathia atactica polyneuritiformis. Hexadecanoic acid storage disease (Refsum's disease). Definition, treatment and pathogenesis. A short review].

Heredopathia atactica polyneuritiformis is a clinical-genetic-biochemical entity. It is therefore not a syndrome, but a nosological entity, a morbus sui generis and it is caused by a single autosomal gene. The importance of phytanic acid accumulation in this disease was first demonstrated by Klenk and Kahlke. To the author's knowledge no case with all the typical symptoms and signs of heredopathia atactica polyneuritiformis and without any atypical clinical features, has yet been reported without a concomitant disturbance of phytanic acid metabolism. The dietary treatment--(a low phytol, low phytanic acid diet)--was first proposed by Eldjarn, when the preliminary experimental results indicated that the phytanic acid was of exogenous origin. Whatever the biochemical mechanism is between accumulation of phytanic acid and clinical manifestations in heredopathia atactica polyneuritiformis, it appears that the observations made on patients following successful dietary treatment are convincing and leave little doubt that most, if not all, the manifestations in this disease are caused in some way by the accumulation of phytanic acid.

Blood-Brain Barrier↗
PubMed1976

Heredopathia atactica polyneurotiformis: therapeutic and pathogenetic aspects.

None of the single manifestations is in itself specific or pathognomonic for this disease except for the disturbance of the metabolism of phytanic acid. Therefore, clinical syndromes that involve similar manifestations without accumulations of phytanic acid should not be included under the term heredopathia atactica polyneuritiformis, or Refsum's disease. Whatever the biochemical mechanism that links phytanic acid accumulation with the clinical manifestations of heredopathia atactica polyneuritiformis, it appears that the observations made on patients following successful dietary treatment leave little doubt that most if not all of the manifestations in this disease are caused in some way by the accumulation of phytanic acid.

Animals↗
PubMed1975

Bladder papilloma in a child. Case report.

A case of bladder papilloma in a 12-year-old boy is presented. He had had painless, intermittent hematuria. An excretory urogram revealed a filling defect in the bladder. A walnut-sized, pedunculated papilloma was removed by transvesical extirpation. Histological examination showed a papillary bladder tumour, grade 1 (Bergkvist et al., 1965). Our patient also had a Cushing syndrome and later a bilateral adrenalectomy was done. The coexistence of two such rare conditions may not be purely coincidental. Control cystoscopies have shown no sign of tumoral recurrence.

Child↗
PubMed1971

[Muscular diseases].

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Cholinesterase Inhibitors↗