Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations.
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Fas (CD95/Apo-1) mutations were previously reported as the genetic defect responsible for human lymphoproliferative syndrome associated with autoimmune manifestations (also known as autoimmune lymphoproliferative syndrome or Canale-Smith syndrome). We have identified 14 new heterozygous Fas mutations. Analysis of patients and families allow us to further dissect this syndrome with regards to the relationship between Fas mutations, inheritance pattern, and phenotype as observed on long-term follow-up. In vitro studies show that lymphocytes from all Fas mutant carriers exhibit a Fas-antibody-induced apoptosis defect. However, among the 8 inherited mutations, 4 of 4 Fas missense mutations were associated with high clinical penetrance, whereas 3 of 4 mutations leading to a truncated Fas product were associated with variable clinical penetrance. This suggests that a second defect, in another yet undefined factor involved in apoptosis and/or lymphoproliferation control, is necessary to induce full clinical expression of the disease. These results also indicate that the currently available antibody-mediated in vitro apoptosis assay does not necessarily reflect the in vivo ability of abnormal Fas molecules to trigger lymphocyte death. In addition, we found that lymphoproliferative manifestations resolved with age, whereas immunological disorders [ie, hypergammaglobulinemia and detection of TcR alphabeta(+) CD4(-) CD8(-) lymphocytes] persisted. This observation suggests that Fas-mediated apoptosis plays a more important role in lymphocyte homeostasis in early childhood than later on in life. (+info)
Thermophilic multidrug-resistant Campylobacter fetus infection with hypersplenism and histiocytic phagocytosis in a patient with acquired immunodeficiency syndrome.
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We present a case report of a patient who had acquired immunodeficiency syndrome (AIDS) and Campylobacter fetus infection with a number of unusual clinical and microbiological features. The patient had prominent gastrointestinal symptoms, splenic infarction, splenomegaly with hypersplenism, and hemophagocytic histiocytosis in the spleen and lymph nodes; the organism displayed growth on Campy-selective blood agar, thermotolerance, and resistance to quinolones, piperacillin/tazobactam, ceftazidime, and erythromycin. (+info)
Recurrent portal hypertension after composite liver/small bowel transplantation.
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Late technical complications of composite liver/small bowel transplantation procedures are often complex and have not been well defined. Here we describe the unusual presentation and management of two cases of recurrent thrombocytopenia due to hypersplenism resulting from portacaval shunt stenosis. Both patients presented with portal hypertension late after composite liver/small bowel transplantation. One patient presented with recurrent bouts of upper gastrointestinal hemorrhage and was ultimately found to have a stenosis of her native portacaval shunt. After unsuccessful balloon dilatation of the anastomosis, a successful side-to-side distal splenorenal shunt was performed. The second patient presented with severe thrombocytopenia, the etiology of which was determined to be a short segment occlusion of the inferior vena cava between the native portacaval shunt and the piggyback outflow anastomosis of the liver graft. Total caval occlusion prevented balloon dilatation; the patient was relisted for transplantation but died of chronic rejection four months later. Recurrent portal hypertension is challenging in patients who have had combined liver/small bowel transplantation. Surgeons performing intestinal transplantation need to be increasingly aware of these possible late complications. (+info)
Partial splenectomy in cystic fibrosis patients with hypersplenism.
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We report three cystic fibrosis (CF) patients with hypersplenism who underwent partial splenectomy. The postoperative course was uneventful in two patients; one patient developed a complication necessitating resection of the rest of the spleen. Haematological parameters improved and oesophageal varices regressed in all patients. On follow up, one patient showed a normal spleen, the other a normally functioning accessory spleen; the third patient again developed splenomegaly with hypersplenism. Partial splenectomy is a promising therapeutic option for CF patients with hypersplenism. (+info)
Experimental study on the feasibility and safety of radiofrequency ablation for secondary splenomagely and hypersplenism.
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AIM: To assess the feasibility and safety of radiofrequency ablation (RFA) in treatment of secondary splenomagely and hypersplenism. METHODS: Sixteen healthy mongrel dogs were randomly divided into two groups, group I (n=4) and group II (n=12). Congestive splenomegaly was induced by ligation of splenic vein and its collateral branches in both groups. At the end of 3rd week postoperation, RFA in spleen was performed in group II via laparotomy, complications of RFA were observed, CT scan was performed and the spleens were obtained. The radiofrequency (RF) thermal lesions and histopathology of spleen were examined regularly. RESULTS: No complication or death was observed in both groups; CT revealed that the splenomegaly lasted over 2 months after ligation of splenic vein; the segmental RF lesions included hyperintense zone of coagulative necrosis and more extensive peripheral hypointense infarcted zone, the latter was called "bystander effect". The infarcted zone would be absorbed and subsequently disappeared in 4-6 weeks after RFA accompanied with shrinkage of the remnant spleen. The fundamental histopathological changes of splenic lesions caused by RF thermal energy included local coagulative necrosis, peripheral thrombotic infarction zone, subsequent tissue absorption and fibrosis in the zone of thrombotic infarction, the occlusion of vessels in remnant viable spleen, deposition of extensive fibrous protein, and disappearance of congestive splenic sinusoid - "splenic carnification". Those pathologic changes were underline of shrinkage of spleen. CONCLUSION: It is feasible and safe to perform RFA in spleen to treat experimental splenomegaly and hypersplenism. The RFA could be safely performed clinically via laparotomy or laparoscopic procedure while spleen was strictly separated from surrounding organs. (+info)
Laparoscopic splenectomy: the latest technical evaluation.
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AIM: To introduce our latest innovation on technical manipulation of laparoscopic splenectomy. METHODS: Under general anesthesia and carbon dioxide (CO(2)) pneumoperitoneum, 86 cases of laparoscopic splenectomy (LS) were performed. The patients were placed in three different operative positions: 7 cases in the lithotomic position, 31 cases in the right recumbent position and 48 cases in the right lateral position. An ultrasonic scissors was used to dissect the pancreaticosplenic ligament, the splenocolicum ligament, lienorenal ligament and the lienophrenic ligament, respectively. Lastly, the gastrosplenic ligament and short gastric vessels were dissected. The splenic artery and vein were resected at splenic hilum with Endo-GIA. The impact of different operative positions, spleen size and other events during the operation were studied. RESULTS: The laparoscopic splenectomy was successfully performed on all 86 patients from August 1997 to August 2002. No operative complications, such as peritoneal cavity infection, massive bleeding after operation and adjacent organs injured were observed. There was no death related to the operation. The study showed that different operative positions could significantly influence the manipulation of LS. The right lateral position had more advantages than the lithotomic position and the right recumbent position in LS. CONCLUSION: Most cases of LS could be accomplished successfully when patients are placed in the right lateral position. The right lateral position has more advantages than the conventional supine approach by providing a more direct view of the splenic hilum as well as other important anatomies. Regardless of operation positions, the major axis of spleen exceeding 15 cm by B-ultrasound in vitro will surely increase the difficulties of LS and therefore prolong the duration of operation. LS is a safe and feasible modality for splenectomy. (+info)
PROGRESSIVE MULTIFOCAL LEUCOENCEPHALOPATHY AND PRIMARY HYPERSPLENISM. WITH A NOTE ON THE ASSOCIATION BETWEEN DISEASE OF THE RETICULOENDOTHELIAL SYSTEM AND PROGRESSIVE MULTIFOCAL LEUCOENCEPHALOPATHY.
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A patient with progressive multifocal leucoencephalopathy was found to have primary hypersplenism, a benign disorder of the reticuloendothelial system. He failed to respond to conventional doses of corticosteroids. The clinical and pathological manifestations of his illness are described, and the development of the histopathological changes in the nervous system is discussed. Consideration of available data on progressive multifocal leucoencephalopathy reveals a striking association with disease of the reticuloendothelial system, the significance of which is discussed in relation to aetiology and treatment. (+info)
Percutaneous splenic embolization of the splenic artery in the treatment of hypersplenism.
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Percutaneous splenectomy was performed in 6 patients with hypersplenism. Peripheral blood cell counts improved in 5 of the patients. The authors review the indications, technique and complications of percutaneous splenic embolization. It is concluded that medical splenectomy is an effective method particularly to alleviate symptoms of hypersplenism. (+info)