1/13. Four cases of bleeding diathesis in children due to congenital plasminogen activator inhibitor-1 deficiency.Congenital plasminogen activator inhibitor-1 (PAI-1) deficiency is an extremely rare disorder characterized by a bleeding diathesis that begins in childhood due to hyperfibrinolysis as a result of decreased PAI-1 activity. We now present 4 unrelated pediatric cases of congenital PAI-1 deficiency. All 4 patients had a history of recurrent episodes of subcutaneous bleeding beginning in early childhood. These episodes were characterized by abnormal prolonged bleeding after trauma, tooth extraction, and surgical procedures, as well as by rebleeding following initial hemostasis. The 2 female patients both had symptoms compatible with hypermenorrhea. The family history was positive in 2 of the 4 patients. Hemostatic screening studies in all 4 patients revealed no abnormalities. Testing for factor xiii antigen, von willebrand factor antigen, ristocetin cofactor activity, alpha(2)-plasmin inhibitor (alpha2PI) activity, and plasminogen activity was normal. The euglobulin lysis times were shortened in all cases as compared with those in normal control subjects. None of the patients had elevated tissue plasminogen activator (tPA) antigen levels, but PAI activity was markedly decreased in all cases. Three of the patients also had reduced levels of PAI-1 antigen. There tended to be a reduction in tPA-PAI-1 complex in all cases. In addition, 2 patients had elevated PIC (plasmin-alpha2PI complex). Tourniquet tests were performed in 2 patients, with no appreciable rise in PAI-1 activity or PAI-1 antigen levels. The administration of tranexamic acid clearly improved hemorrhagic symptoms in these patients. We considered PAI-1 deficiency to be the likely etiology of the congenital bleeding diatheses in these 4 cases.- - - - - - - - - - ranking = 1keywords = diathesis (Clic here for more details about this article) |
2/13. Bleeding diathesis in amyloidosis with renal insufficiency associated with Crohn's disease: response to desmopressin.A 53-yr-old man with a 33-yr history of Crohn's ileocolitis, complicated by arthritis and cologastric fistulization, was diagnosed with GI amyloidosis at the time of proctocolectomy. He had marked proteinuria (4.2 g/24 h) and moderate renal insufficiency (BUN of 35 mg/dl and serum creatinine of 2.5 mg/dl). During the operation, he had severe bleeding that required 11 U of blood. Postoperatively, desmopressin was administered, which resulted in a prompt cessation of bleeding. This case demonstrates the efficacy of desmopressin in reversing the bleeding diathesis in surgical patients with amyloidosis complicated by renal insufficiency.- - - - - - - - - - ranking = 1keywords = diathesis (Clic here for more details about this article) |
3/13. Unusual oral manifestations and evolution in glycogen storage disease type Ib.glycogen storage disease type Ib is a rare inherited metabolic disorder that is caused by a deficiency of glucose-6-phosphate translocase with consequent accumulation of glycogen. The purpose of this study is to report a case affected by glycogen storage disease type Ib in which unusual oral findings were evident and to review the pertinent literature. The disease presents with failure to thrive, hepatomegaly, hypoglycemia, hyperlacticacidemia, neutropenia, and neutrophilic dysfunction causing increased susceptibility to recurrent infections. Common intraoral manifestations are dental caries, gingivitis, periodontal disease, delayed dental maturation and eruption, oral bleeding diathesis, and oral ulcers. Conversely, unusual oral lesions were observed in this case as hyperplastic-hypertrophic gingiva and giant cell granulomatous epulis. The treatment with granulocyte colony-stimulating factor markedly increased the neutrophil counts and reduced the frequency of infections and inflammations. Proper evaluation of the patient's oral condition, a program of preventive measures, and suitable medical consultation are important to minimize and avoid long-term complications.- - - - - - - - - - ranking = 0.2keywords = diathesis (Clic here for more details about this article) |
4/13. Two cases of inherited triple deficiency in a large kindred with thrombotic diathesis and deficiencies of antithrombin iii, heparin cofactor ii, protein c and protein s.Thirty-three subjects, belonging to a large family with functional antithrombin iii (ATIII) deficiency (type IIa) and recurrent thromboembolism, were investigated for ATIII, heparin cofactor ii (HCII), protein c (PC) and protein s (PS). We report the exceptional finding of two cases of triple deficiency: ATIII combined with HCII and PC in the first case aged 15 and ATIII combined with HCII and PS in the second case aged 27. Interestingly, both are asymptomatic thus far. Twenty-five other deficient members were found, among which seven are affected with a double deficiency. Totally, the results of our study show 38 deficiencies of four distinct antithrombotic protein: ATIII (n = 9), HCII (n = 9), PC (n = 7) or PS (n = 13). Two types of HCII deficiency were observed and type I PC deficiency was found. Functional PS deficiency was characterized by reduced levels of cofactor activity for activated PC. Our report demonstrates that combined deficiencies should be sought in a family already known to be deficient in one antithrombotic protein.- - - - - - - - - - ranking = 0.8keywords = diathesis (Clic here for more details about this article) |
5/13. Malignant diathesis from jejunal-ileal carcinoids.A facet of carcinoid tumors often not recognized is their close association with other, noncarcinoid malignancies. The clinical course of two patients with multiple ileal-jejunal carcinoids and multiple other noncarcinoid malignancies is described. These patients were found to have elevated circulating levels of gastrin, bombesin, glucagon, enteroglucagon, pancreatic polypeptide, and peptide tyrosine tyrosine. These regulatory peptides have been demonstrated to promote trophic effects on the gastrointestinal tract as well as malignant tumors. We propose that the release of these bioactive hormones into the portal and systemic circulation by carcinoid tumors may play some role in their association with these multiple second tumors.- - - - - - - - - - ranking = 0.8keywords = diathesis (Clic here for more details about this article) |
6/13. Arterial occlusion causing large bowel infarction--a reflection of clotting diathesis in SLE.The patient, a 44-year old woman with systemic lupus erythematosus, (SLE), developed infarction of the bowel and spleen after occlusion of the inferior mesenteric and splenic arteries, necessitating colectomy and splenectomy. She had had previous cerebral thromboses and a lower limb deep vein thrombosis. Histological examination of the involved vessels showed the presence of thrombus only with the total absence of any vasculitis. The patient demonstrated antibodies to phospholipid - the "lupus anticoagulant" (LA) and antibodies to cardiolipin in serum, both strongly associated with thromboses.- - - - - - - - - - ranking = 0.8keywords = diathesis (Clic here for more details about this article) |
7/13. Gouty diathesis and sarcoidosis in patient with recurrent calcium nephrolithiasis.We describe a patient who initially formed calcium-containing renal stones owing to gouty diathesis and hypocitraturia. On therapy with 300 mg. allopurinol and 60 mEq. potassium citrate daily serum uric acid decreased from 9.2 to 5.8 mg. per dl., urinary pH increased from less than 5.5 to 6.6 and urinary citrate increased from 223 to 1,005 mg. per day. Four months later while still on this medical regimen, the patient presented with hypercalcemia (13.4 mg. per dl.), high serum 1,25-dihydroxyvitamin D (65 pg. per ml.) and hypercalciuria (598 mg. per day), which subsequently were found to result from sarcoidosis. prednisone therapy normalized the disturbances in calcium metabolism. During 33 months of combined treatment with 7.5 to 10 mg. prednisone a day, allopurinol and potassium citrate, the patient was free of stones and he had normal urinary calcium, pH and citrate. However, a calcium stone formed 1 month after discontinuation of prednisone therapy, although treatment with allopurinol and potassium citrate was continued. The patient had marked hypercalciuria of 447 to 465 mg. per day, despite normal urinary pH, citrate and uric acid. This case represents calcium stone formation in a patient with 2 separate etiologies for stone disease, that is gouty diathesis and sarcoidosis. Therapeutic regimens directed at the correction of both metabolic disturbances were required to control renal stone formation.- - - - - - - - - - ranking = 1.2keywords = diathesis (Clic here for more details about this article) |
8/13. Carcinoid diathesis of the ileum.An unusually large number (108) of carcinoids was discovered in the ileum of a 63-year-old male. The clustering and size distribution of tumor nodules suggests that the phenomenon reflects mucosal metastasis from a dominant parent tumor rather than multicentric neoplastic foci. A predilection for the antimesenteric mucosa was also observed and may be related to mucosal lymphatic spread of the carcinoid tumor.- - - - - - - - - - ranking = 0.8keywords = diathesis (Clic here for more details about this article) |
9/13. life-long bleeding diathesis: effect of orthotopic liver transplantation.Proper regulation of the fibrinolytic system is critical to the prevention of both thrombosis and hemorrhage. patients with inherited or acquired excess fibrinolysis may have a bleeding tendency, usually characterized by delayed and posttrauma or postoperative bleeding. The liver plays many roles in this regulation, including the synthesis of plasminogen, alpha 2-antiplasmin (alpha 2-AP) and plasminogen activator inhibitor-1 (PAI-1), and the clearance of tissue-plasminogen activator (t-PA). Inherited deficiencies of alpha 2AP, PAI-1 and inherited excess t-PA associated with clinically significant bleeding have been reported. The authors describe a patient with a life-long bleeding diathesis who demonstrated evidence of excess t-PA. One of two daughters also had a bleeding tendency and demonstrated excess t-PA. The patient developed cirrhosis and underwent orthotopic liver transplantation. Following transplantation, all fibrinolytic parameters returned to normal, and the bleeding diathesis appeared to no longer exist. The effect of liver transplantation on this patient's fibrinolytic abnormalities and the effect of cirrhosis on this patient's laboratory evaluation are discussed.- - - - - - - - - - ranking = 1.2keywords = diathesis (Clic here for more details about this article) |
10/13. epistaxis, von Willebrand's type bleeding diathesis and Wilms' tumour: a case report.We report a case of persistent epistaxis in a seven-month-old child with Wilms' tumour who had an associated von Willebrand's type bleeding diathesis. Correction of the bleeding diathesis to control the epistaxis required treatment of the tumour with chemotherapy.- - - - - - - - - - ranking = 1.2keywords = diathesis (Clic here for more details about this article) |
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