Vascular surgical reconstructions in orthopedic tumor operations

The surgical treatment of bone tumors today results more and more in a radical resection therapy. The major vessels are often included in the tumor mass and therefore they have to be resected and reconstructed. Between 1981-1986 30 patients of the Orthopaedic University Clinic in Vienna were treated with tumor resection. The arterial and/or venous reconstruction was done in cooperation with the I. Department of Surgery of the University of Vienna. In 73% of the cases rotation plasty of the knee was performed, in 10% a local tumor resection and in 7% a tumor resection and reconstruction by a tumor endoprosthesis (KMFTR-system). Three patients underwent partial pelvic resection, hemipelvectomy and rotation plasty of the hip respectively.     

Estrogen receptor immunocytochemistry for preoperative determination of estrogen receptor status on fine-needle aspirates of breast cancer

Fine-needle aspirates (FNAs) of 84 primary breast carcinomas were analyzed immunocytochemically for estrogen receptor (ER) using (ER-ICA) monoclonal antireceptor antibodies. ER-ICA in FNAs was concordant to ER-ICA in histologic biopsies in 87% (P less than 0.0001). In most of the carcinomas, biochemically determined ER status also correlated to ER-ICA. There was no false positive ER-ICA in FNAs compared with ER-ICA in histologic biopsies. In 11 FNAs, ER-ICA was negative, whereas it showed positivity in histologic specimens. The most frequent contributing factors to false negative ER-ICAs of FNAs were ER-ICA-low results in histologic biopsies, a prominent stroma component in these tumors, and low cellularity of FNAs. The biochemical ER values in these cases never exceeded 90 fmol/mg protein. In a minority of cases, false negative results were inexplicable.     

Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response

Congenital nephrogenic diabetes insipidus (NDI) is a rare disease caused most often by mutations in the vasopressin V2 receptor (AVPR2). We studied a family which included a female patient with NDI with symptoms dating from infancy. The patient responded to large doses of desmopressin (dDAVP) which decreased urine volume from 10 to 4 I/day. Neither the parents nor the three sisters were polyuric. The patient was found to be a compound heterozygote for two novel recessive point mutations in the aquaporin-2 (AQP2) gene: L22V in exon 1 and C181W in exon 3. Residue Cys181 in AQP2 is the site for inhibition of water permeation by mercurial compounds and is located near to the NPA motif conserved in all aquaporins. Osmotic water permeability (Pf) in Xenopus oocytes injected with cRNA encoding C181W-AQP2 was not increased over water control, while expression of L22V cRNA increased the Pf to approximately 60% of that for wild-type AQP2. Co-injection of the mutant cRNAs with the wild-type cRNA did not affect the function of the wild-type AQP2. Immunolocalization of AQP2-transfected CHO cells showed that the C181W mutant had an endoplasmic reticulum-like intracellular distribution, whereas L22V and wild-type AQP2 showed endosome and plasma membrane staining. Water permeability assays showed a high Pf in cells expressing wild-type and L22V AQP2. This study indicates that AQP2 mutations can confer partially responsive NDI.      

The prognosis of rectal carcinoid tumours

Carcinoid tumours of the rectum are very rare, and they may present sprecial therapeutic problems for the surgeon. Tumour size and muscle layer invasion are the two most important factors predicting their malignant potential. A series of 20 patients with carcinoid tumours of the rectum were reviewed. 16 tumours less than 2 cm in diameter had neither muscle layer invasion nor lymph node metastases, with the exception of one tumour. Four patients with tumours larger than 2 cm died from metastatic carcinoid. In order to plan operative management endoluminal ultrasound should be performed preoperatively. Rectal carcinoid tumours should be treated like carcinomas of the rectum if they are 2 cm or more in diameter or if they demonstrate muscularis propria invasion independent of tumour size.

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Résumé Les tumeurs carcinoïdes du rectum sont très rares et peuvent présenter des problèmes thérapeutiques particuliers pour le chirurgien. Le calibre de la tumeur et l'invasion des couches musculaires sont les deux facteurs les plus importants pour prévoir leur potentiel malin. Une série de 20 malades présentant une tumeur carcinoïde du rectum a été revue. Les 16 tumeurs de moins de 2 cm de diamètre ne présentaient ni invasion des couches musculaires, ni métastase lymphatique à l'exception d'une seule. 4 patients avec des tumeurs plus grandes que 2 cm sont morts de métastases carcinoïdes. En vue de planifier la conduite opératoire l'échographie endo-rectale devrait être pratiquée pré-opératoirement. Les tumeurs carcinoïde du rectum devraient être traitées comme des cancers du rectum si leur diamètre dépasse 2 cm où si elles démontrent une invasion de la musculaire propre, indépendamment de la taille de la tumeur.

     

ATG16L1 and NOD2 polymorphisms enhance phagocytosis in monocytes of Crohn’s disease patients

AIM:To investigate if the presence of relevant genetic polymorphisms has effect on the effectual clearance of bacteria by monocytes and granulocytes in patients with Crohn’s disease(CD).METHODS:In this study,we assessed the differential responses in phagocytosis by measuring the phagocytic activity and the percentage of active phagocytic monocytes and granulocytes in inflammatory bowel disease patients as well as healthy controls.As both autophagy related like 1(ATG16L1)and immunityrelated guanosine triphosphatase gene are autophagy genes associated with CD and more recently nucleo-tide-binding ligomerization domain-containing protein2(NOD2)has been identified as a potent inducer of autophagy we genotyped the patients for these variants and correlated this to the phagocytic reaction.The genotyping was done with restriction fragment length polymorphisms analysis and the phagocytosis was determined with the pHrodo?Escherichia coli Bioparticles Phagocytosis kit for flowcytometry.RESULTS:In this study,we demonstrate that analysis of the monocyte and granulocyte populations of patients with CD and ulcerative colitis showed a comparable phagocytic activity(ratio of mean fluorescence intensity)between the patient groups and the healthy controls.CD patients show a significantly higher phagocytic capacity(ratio mean percentage of phagocytic cells)compared to healthy controls(51.91%±2.85%vs 37.67%±7.06%,P=0.05).The extend of disease was not of influence.However,variants of ATG16L1(WT:2.03±0.19 vs homozygoot variant:4.38±0.37,P<0.009)as well as NOD2(C-ins)(heterozygous variant:42.08±2.94 vs homozygous variant:75.58±4.34(P=0.05)are associated with the phagocytic activity in patients with CD.CONCLUSION:Monocytes of CD patients show enhanced phagocytosis associated with the presence of ATG16L1 and NOD2 variants.This could be part of the pathophysiological mechanism resulting in the disease.