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Biomedical subjects

A Hansmann

Publications and source records attributed to A Hansmann.

5 recordsLinked to original sources

STK11 status and intussusception risk in Peutz-Jeghers syndrome.

BACKGROUND: Peutz-Jeghers syndrome (PJS) is caused by germline STK11 mutations and characterised by gastrointestinal polyposis. Although small bowel intussusception is a recognised complication of PJS, risk varies between patients. OBJECTIVE: To analyse the time to onset of intussusception in a large series of PJS probands. METHODS: STK11 mutation status was evaluated in 225 PJS probands and medical histories of the patients reviewed. RESULTS: 135 (60%) of the probands possessed a germline STK11 mutation; 109 (48%) probands had a history of intussusception at a median age of 15.0 years but with wide variability (range 3.7 to 45.4 years). Median time to onset of intussusception was not significantly different between those with identified mutations and those with no mutation detected, at 14.7 years and 16.4 years, respectively (log-rank test of difference, chi(2) = 0.58, with 1df; p = 0.45). Similarly no differences were observed between patient groups on the basis of the type or site of STK11 mutation. CONCLUSIONS: The risk of intussusception in PJS is not influenced by STK11 mutation status.

AMP-Activated Protein Kinase Kinases↗

[Comparison of different stool tests for the detection of cancer of the colon].

BACKGROUND AND OBJECTIVE: Colonoscopy is the gold standard for the diagnosis of colonic neoplasia. Because of the low compliance, the discomfort of bowel preparation and the procedure itself and the (albeit small) risk of perforation or bleeding alternative procedures such as stool tests are being focused on. PATIENTS AND METHODS: After informed consent stool samples of 116 patients (44 male, 72 female, median age 47 years), scheduled for colonoscopy and 22 patients (17 m, 5 f, 69 y) with known colorectal cancer stool samples were collected. The samples were investigated by three methods: a biochemical (Guajak) test for fecal occult blood, an immunological test for fecal occult blood and a test determining the dimer pyruvat kinase M2 (tumor M2-PK). RESULTS: Sensitivity for detection of colorectal cancer or polyps was 27 % and 10 % for the biochemical test, 91 % and 19 % for the immunological test and 77 % and 48 % for the M2-PK-test, respectively. Specificity was 89 %, 94 % and 72 %, respectively. CONCLUSIONS: Both methods for detection of occult blood had a similar specificity. The sensitivity of the immunological test for the detection of colorectal cancer was significantly higher. The M2-PK-test had a markedly lower specificity in diagnosing cancer. Because of the low sensitivity for polyps the usefulness of stool tests is questionable. Reducing incidence and mortality of colorectal cancer should be achieved by colonoscopy, a recommendation that requires specific communication to the public.

Aged↗

New morphological findings in so-called negative appendectomies.

Appendices of children operated on because of clinical signs of acute appendicitis and presenting normal histological findings were revised by means of special assays. These findings were then compared with appendectomies during abdominal surgery, catarrhal and early phlegmonous appendicitis. We found pathological changes of the epithelium and the lymphatic tissue in more than two thirds of the specimens originally classified as normal. Therefore the term of "negative appendectomy" has to be redefined.

Acute Disease↗

Expression of the insulin-like growth factor-II/mannose-6-phosphate receptor in multiple human tissues during fetal life and early infancy.

The insulin like growth factor-II/mannose-6-phosphate (IGF-II/M6P) receptor has been detected in many cells and tissues. In the rat, there is a dramatic developmental regulation of IGF-II/M6P receptor expression, the receptor being high in fetal and neonatal tissues and declining thereafter. We have systematically studied the expression of the human IGF-II/M6P receptor protein in tissues from 10 human fetuses and infants (age 23 weeks gestation to 24 months postnatal). We have asked 1) whether there is differential expression among different organs, and 2) whether or not the human IGF-II/M6P receptor is developmentally regulated from 23 weeks gestation to 24 months postnatal. Protein was extracted from human tissues using a buffer containing 2% sodium dodecyl sulfate and 2% Triton X-100. Aliquots of the protein extracts were analyzed by sodium dodecyl sulfate-polyacrylamide gel electrophoresis and immunoblotting using an anti-IGF-II/M6P receptor antiserum (no. 66416) and 125I-protein A or an immunoperoxidase stain. IGF-II/M6P receptor immunoreactivity was detected in all tissues studied with the highest amount of receptor being expressed in heart, thymus, and kidney and the lowest receptor content being measured in brain and muscle. The receptor content in ovary, testis, lung, and spleen was intermediate. The apparent molecular weight of the IGF-II/M6P receptor (220,000 kilos without reduction of disulfide bonds) varied among the different tissues: in brain the receptor was of lower molecular weight than in other organs. Immunoquantitation experiments employing 125I-protein A and protein extracts from human kidney at different ages revealed a small, albeit not significant, difference of the receptor content between fetal and postnatal tissues: as in other species, larger amounts of receptor seemed to be present in fetal than in postnatal organs. In addition, no significant difference of the receptor content between human fetal liver and early postnatal liver was measured employing 125I-protein A-immunoquantitation in three fetal and five postnatal liver tissue samples. The distribution of IGF-binding protein (IGEBP) species, another abundant and major class of IGF binding principles, was also measured in human fetal and early postnatal lung, liver, kidney, muscle, and brain using Western ligand blotting with 125I-IGF-II: as with IGF-II/M6P receptor immunoreactivity there was differential expression of the different classes of IGFBPs in the various organs.(ABSTRACT TRUNCATED AT 400 WORDS)

Blotting, Western↗

The expression of insulin-like growth factor binding proteins is tissue specific during human fetal life and early infancy.

The insulin-like growth factors (IGFs) are bound to multiple IGF binding proteins (IGFBPs) that are present both in the circulation and in extracellular fluids. There are at least six different IGFBP species that have been fully characterized in terms of molecular structure and amino acid sequence. The tissue distribution and local production of these proteins as well as the regulation of IGFBP production in different tissues have not been elucidated. We have studied the distribution of multiple IGFBP species in protein extracts from human kidney, skeletal muscle, lung, liver and brain by ligand blotting employing [125I]IGF-2 as the radiolabeled hormone. Five distinct IGFBP species with a respective molecular weight of 43, 38, 34, 30 and 20 kDa were detected on the ligand blots in tissues from human fetuses and infants (23 weeks of gestation till 24 months of postnatal age). The 34 kDa species and a 30-32 kDa IGFBP species were predominant in brain, whereas a 30 kDa IGFBP species was mainly detected in skeletal muscle. Immunoblotting experiments using an anti IGFBP-2 antiserum showed that the 34 kDa IGFBP species from human brain was presumably related to IGFBP-2. We conclude that IGFBPs are differentially expressed in different tissues throughout human fetal life and early infancy. Local production or accumulation of the different IGFBPs could modulate IGF action at a local level or alternatively have differential functions during development.

Brain↗