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Biomedical subjects

A Sjövall

Publications and source records attributed to A Sjövall.

At least 19 recordsLinked to original sources

The potential for improved outcome in patients with hepatic metastases from colon cancer: a population-based study.

AIMS: Reports from specialized centres suggest that 20-25% of patients with hepatic metastases from colorectal cancer have resectable disease, with 5-year survival rates of 30-40%, and that an additional 13-38% may become resectable after chemotherapy. The purpose of this study was to assess the potential for improvement in outcome for patients with hepatic metastases from colon cancer in an unselected population. PATIENTS AND METHODS: All patients diagnosed with colon cancer in the Stockholm/Gotland region between 1 January 1996 and 31 December 1999 were identified and followed until 31 December 2002. Treatment and outcome in patients with hepatic metastases was analyzed and CT-scans and MR images of the liver were reviewed to re-evaluate resectability. RESULTS: In 2280 patients with colon cancer, hepatic metastases were diagnosed in 537 patients. Only 21 of these patients underwent a hepatic resection. Retrospective evaluation of liver images indicated that 10% of the patients had potentially resectable hepatic disease. CONCLUSION: The rate of potentially resectable liver metastases from colon cancer in a population is lower than suggested from hospital-based series. With structured management programs including follow-up routines and multidisciplinary treatment protocols the proportion of patients amenable for liver resection may be increased. In this study preoperative chemotherapy might have increased the resectability rate to at the most 17%. To significantly improve prognosis for patients with hepatic metastases from colon cancer more effective treatment modalities are needed.

Adenocarcinoma↗

Blunt abdominal trauma in children: risks of nonoperative treatment.

This retrospective study includes 203 children who had intraabdominal injuries after blunt trauma, mainly bicycle accidents and falls. Of 145 patients with splenic injury, seven underwent surgery. There was a 100% splenic salvage rate. Twenty-nine children had hepatic injury and four underwent laparotomy. One patient who was initially treated conservatively had a complicated clinical course with rebleeding that led to two laparotomies. Three of 10 pancreatic injuries were operated on; one of them 4 weeks after the trauma because of a pseudocyst. Nineteen patients had gastrointestinal tract injuries. Of seven intramural hematomas, five were treated nonoperatively. Twelve patients had gastrointestinal perforations. Seven underwent laparotomy without delay. Three patients underwent surgery 24 hours after admission because of severe abdominal rigidity or pneumoperitoneum. There was one case of severe in-hospital delay in which splenic and hepatic injuries were thought to account for the physical findings. At laparotomy 36 hours after admission, a jejunal rupture and necrosis of the transverse colon were found. Nonoperative management of blunt abdominal trauma has been very successful regarding splenic ruptures. Conservative management of hepatic injuries is more hazardous, and treatment of pancreatic injuries is a matter of controversy. Gastrointestinal-tract perforations are difficult to diagnose and important to bear in mind while keeping a conservative attitude toward abdominal trauma.

Adolescent↗

A mild form of mucolipidosis type III in four Baluch siblings.

Four Baluch siblings with mucolipidosis type III (pseudo-Hurler polydystrophy) are described. The patients had features commonly found in mucolipidosis III, including claw hands, joint stiffness, aortic valve involvement and radiological dysostosis multiplex. However, intelligence was normal, there were no eye abnormalities on slit-lamp examination and skin elasticity was normal. Many lysosomal enzymes were elevated in serum and diminished in cultured fibroblasts, although the findings for beta-galactosidase were atypical. Assays for the two enzymes involved in formation of the phosphomannose recognition marker revealed normal activity of the phosphotransferase with alpha-methylmannoside as an acceptor, and normal activity of the phosphodiester glycosidase. Metabolic labelling of fibroblasts with 32P followed by immunoprecipitation of cathepsin D, electrophoresis and fluorography showed that this enzyme was not labelled in the patients' cells, although some label was detected in the secreted precursor polypeptide. The data are consistent with the assumption that activity of the phosphotransferase is low towards lysosomal enzymes as substrates, and that the patients belong to complementation group C.

Arylsulfatases↗

Progressive mental regression in siblings with Morquio disease type B (mucopolysaccharidosis IV B).

A brother and sister with clinical and radiological features of Morquio disease, but with atypical mental regression, are described. Leucocyte and fibroblast beta-galactosidase activity was deficient in the siblings, while N-acetylgalactosamine 6-sulphate sulphatase and neuraminidase were normal. Study of the residual fibroblast beta-galactosidase activity towards 4-methylumbelliferyl and p-nitrophenyl beta-D-galactosides indicated that the mutation resembles that in typical Morquio B disease (increased Km and similar pH maximum) rather than that in GM1-gangliosidosis. The patients have therefore been classified as having Morquio B disease with atypical mental regression rather than GM1-gangliosidosis variants with particularly severe bony abnormalities. The mutation was, however, distinct from that in Morquio B disease since residual activity towards the alternative artificial substrate 4-methylumbelliferyl-beta-D-fucoside was increased. The patients represent further examples of the heterogeneity that can result from mutation at the beta-galactosidase locus.

Bone Diseases, Developmental↗

Sella turcica in male-to-female transsexuals.

Roentgenological examination of the skull in 11 male-to-female transsexuals revealed considerable asymmetry (2.5-3 mm) of the sellar floor in three cases. There was no asymmetry exceeding 1.5 mm in 103 male controls. Asymmetry of the sella turcica suggests the presence of an intrasellar pituitary tumor. This finding in three patients with transsexualism is of interest in view of reports of endocrine disorders or hormonal secretion abnormalities in patients with atypical sexuality or gender identity problems.

Adolescent↗