1/32. Cochlear deafness in a Chinese family with Fechtner's syndrome.OBJECTIVE: To identify the nature of the hearing impairment in the members of a Chinese family with Fechtner's syndrome. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. patients: A Chinese family with a variant of Alport's syndrome: high-tone sensorineural hearing loss, proteinuria, macrothrombocytopenia, and ocular disease. INTERVENTIONS: The diagnosis of Fechtner's syndrome was confirmed by the characteristic ultrastructure of the Dohle-like inclusion bodies in the neutrophils of the mother and her three children. Pure-tone audiometry, evoked response audiometry (ERA), and distortion product otoacoustic emissions (DPOAE) were performed in two subjects to investigate the hearing impairment. MAIN OUTCOME MEASURE: The parameters of the ERA and DPOAEs were correlated. RESULTS: In both subjects, the ERA was within normal limits, and there were no measurable DPOAEs in frequencies >2 kHz. CONCLUSION: The hearing loss in Fechtner's syndrome is cochlear rather than neural.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/32. Anesthetic implications of the grey platelet syndrome.PURPOSE: To describe the obstetrical anesthetic care provided to two sisters with a rare qualitative platelet disorder, the grey platelet syndrome (GPS). CLINICAL FEATURES: Both patients manifested thrombocytopenia prior to delivery without previous history of a bleeding diathesis or other abnormal laboratory tests of coagulation function. The first required emergency cesarean section due to fetal bradycardia. Due to the thrombocytopenia and the emergency nature of the procedure, general anesthesia was used. During the C-section, 1.5-2 litres of old blood was noted in the abdominal cavity which was attributed to an old splenic capsular tear of unknown etiology. work-up for the thrombocytopenia revealed large platelets on the peripheral smear with abnormal aggregation on platelet function studies. Electron microscopy of the platelets revealed absent alpha granules, diagnostic of GPS. The second patient, the sister of patient #1, presented in a similar fashion. However, at presentation, the platelet count was 112,000 x m(-3) and spinal anesthesia was provided without complication for Cesarean delivery. The same patient presented for a second delivery during which fetal bradycardia necessitated emergency C-section under general anesthesia. Despite administration of six units of platelets, blood loss was 5,200 mL. Her postpartum course was uncomplicated and she and the infant were discharged home on postoperative day #4. CONCLUSION: The primary concerns for the anesthesiologist looking after patients with qualitative platelet defects are related to defective coagulation which influences the need for perioperative replacement of blood products and limits the use of regional anesthesia.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
3/32. Evans' syndrome complicating chronic graft versus host disease after cadaveric liver transplantation.Acute graft versus host disease (GVHD) occurred in a patient after cadaveric liver transplantation from an HLA disparate donor. immunosuppression resulted in a remission, but chronic GVHD with a scleroderma-like syndrome ensued. This was further complicated by immune hemolytic anemia and thrombocytopenia (Evan's syndrome). Semi-quantitative microsatellite analysis of circulating lymphoid cells showed that T cells were predominantly of donor origin, thereby explaining the chronic GVHD. The marrow hematopoietic cells remained recipient, so that the immune cytopenias were expected to be alloimmune in nature. However, the red cell antibodies were shown to have anti-C and anti-e specificity, with both the donor (R1R1) and recipient (R1r) possessing the C and e antigens. Therefore, the immune hemolysis might be considered both alloimmune and autoimmune. The patient finally died of sepsis. This case illustrates that chronic GVHD due to stable donor T cell engraftment may rarely occur in liver transplantation despite HLA disparity. immunosuppression may result in dysregulation of T cell functions, leading to alloimmune and autoimmune problems.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
4/32. Cyclic thrombocytopenia and polycythemia vera.A periodic fall of platelet number characterizes an acquired pathological condition named cyclic thrombocytopenia. We describe an unusual case of polycythemia vera in which the episodes of thrombocytopenia were followed regularly by thrombocytosis. The period of platelet count fluctuation was about 50 days, with the counts ranging from 34 to 820 x 10(9)/l. Bone marrow megakaryocytes were decreased in number during platelet nadir. Circulating thrombopoietin levels fluctuated out of phase with the platelet count. We suggest that at least some cases of polycythemia vera may have an unstable hematopoietic stem cell pool in nature, which could contribute to the development of unprovoked cyclic thrombocytopenia.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
5/32. thrombocytopenia due to platelet glycoprotein IIb/IIIa-reactive autoantibodies non-reactive with platelets from EDTA blood.We describe 2 patients with thrombocytopenia and autoantibodies in the blood against platelet membrane glycoprotein (GP) IIb/IIIa, in whom reactivity of the antibodies with their antigen was greatly diminished in the presence of sodium EDTA. One patient also showed a marked thrombocytopathy, suggesting a functional blocking of GP IIb/IIIa by these autoantibodies. These observations show that some immunologically important autoantibodies can easily be missed in routine serological investigations in which EDTA blood is used, obscuring the autoimmune nature of a thrombocytopenia and possibly of a thrombopathy as well.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
6/32. Scintigraphic diagnosis and computed tomographic localization of an accessory spleen following relapse of chronic immune thrombocytopaenia.Chronic immune thrombocytopaenia is an immunologically mediated disorder resulting in disordered platelet kinetics and potentially life-threatening thrombocytopaenia. Failure of medical therapy is an indication for splenectomy, and responses are seen in 80% of patients following this procedure. An important cause of relapse following splenectomy is the presence of an accessory spleen. We describe a patient with Hodgkin's Disease who developed chronic immune thrombocytopaenia despite previous splenectomy. A remission was induced with immunosuppressive therapy, but he later relapsed. An accessory spleen was detected using 99mTc denatured red blood cells and localized using computed tomography (CT). Resection of the accessory spleen resulted in clinical remission. Accessory spleens are often small in size. Combined modality imaging is recommended in the evaluation of patients with a possible accessory spleen.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
7/32. Dysplastic megakaryopoiesis with thrombocytopenia and chromosomal aberration.A case of isolated thrombocytopenia with decreased platelet production and abnormal megakaryopoiesis is described. In the bone marrow, a chromosomally aberrant clone, 45,XX,-11,-18, der (11;18)(11q13;18p11), was found. These findings indicate a myelodysplastic nature of the abnormal thrombocytopoiesis. The described case demonstrates the value of a bone marrow examination including histopathology with immunologic techniques to evaluate the megakaryopoiesis in thrombocytopenia and the interest of cytogenetic studies not only in instances with overt hematologic malignancies or complete myelodysplastic syndromes, but also when morphologic abnormalities occur in a single cell line.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
8/32. Cases from the Osler Medical Service at Johns Hopkins University.PRESENTING FEATURES: An 18-year-old white man was admitted to the Osler Medical Service with the chief complaint of back pain. Two weeks prior to admission, the patient developed diffuse and aching upper back pain. Over the next couple of days, he also developed severe anterior chest pain that was somewhat pleuritic in nature but diffuse and extending bilaterally into the shoulders. One week prior to admission, he developed intermittent fevers and night sweats. The patient denied any lymphadenopathy, pharyngitis, sick contacts, shortness of breath, rash, or bleeding. He was seen by a physician and told that he had thrombocytopenia. There was no history of recent or remote unusual bleeding episodes. His medical history was unremarkable except for a childhood diagnosis of attention deficit/hyperactivity disorder. He was not taking any medications and had no history of tobacco, alcohol, or illicit drug use. He had no risk factors for human immunodeficiency virus infection. physical examination showed that he was afebrile and had normal vital signs. He was a well-appearing man who was lying still because of pain. HEENT examination was unremarkable. There was no pharyngeal erythema or exudates. His lungs were clear. His neck was supple and without lymphadenopathy. Examination of his back and chest revealed no focal tenderness. There was no hepatosplenomegaly, and his skin was without petechiae or rashes. Examination of the patient's joints showed pain on passive and active movement of his shoulders bilaterally, but no frank arthritis. There was no rash, petechiae, or echymoses. Chest radiograph and electrocardiogram were unremarkable. On admission, the laboratory examination was notable for a hematocrit level of 32.5%, with a mean corpuscular volume of 79 fL, and white blood cell count of 2.8 x 10(3)/microL. platelet count was 75 x 10(3)/microL. A white blood cell differential revealed 7% bands, 53% polys, 34% lymphs, 5% atypical lymphocytes, 2% nucleated red cells, and a few young unidentified cells. His chemistry studies were unremarkable. What is the diagnosis?- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
9/32. Successful treatment of refractory thrombocytopenia with mycophenolate mofetil in a patient with systemic lupus erythematosus.While mild thrombocytopenia in systemic lupus erythematosus (SLE) is frequently seen in the context of active disease, severe thrombocytopenia causing significant bleeding is not that common. Corticosteroids are considered the first line therapy for severe thrombocytopenia in SLE. Second-line therapeutic agents or splenectomy have been reported to be effective for patients who fail to respond to steroids or those who require moderate doses of steroids to maintain the platelet counts. Recent randomized controlled studies have shown that mycophenolate mofetil (MMF) is an efficacious and safe therapeutic agent in patients with proliferative forms of lupus nephritis. However, little information has been available regarding the role of MMF in the treatment of immune thrombocytopenia complicated with SLE. Hereby I describe a patient with SLE in whom thrombocytopenia was refractory to corticosteroids, intermittent intravenous cyclophosphamide, azathioprine, cyclosporine, intravenous gamma globulin, danazol, and splenectomy, and whose platelet counts eventually normalized during therapy with MMF. In this patient, thrombocytopenia is initially thought to be associated with active SLE involving major organ. However, after immunosuppressive agents were given, the refractory nature of thrombocytopenia seems to be an isolated phenomenon, independently of SLE activity.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
10/32. Recombinant factor viia for refractory bleeding after cardiac surgery secondary to anticoagulation with the direct thrombin inhibitor lepirudin.A 56-year-old man with heparin-induced thrombocytopenia with thrombosis syndrome (HITTS) received anticoagulation with recombinant hirudin (lepirudin) for emergency coronary artery bypass graft (CABG) surgery and aortic valve replacement. The patient experienced life-threatening refractory bleeding that was successfully treated with recombinant factor viia. He had a history of infective endocarditis that resulted in severe aortic insufficiency, three-vessel coronary artery disease, and acute renal failure requiring hemodialysis. The patient was transferred from another hospital for the emergency surgery, but before his transfer, he developed HITTS secondary to therapeutic heparin for a deep vein thrombosis of the lower extremity. The presence of HITTS, the urgent nature of the case, and the availability of the direct thrombin inhibitor led the surgical team to select lepirudin for anticoagulation to facilitate cardiopulmonary bypass. After separation from cardiopulmonary bypass, the patient was in a coagulopathic state due to the inability to reverse the lepirudin and the slowed elimination of the drug secondary to inadequate renal function. As a result, the patient experienced excessive generalized oozing that was unresponsive to traditional therapies and blood product transfusions. Recombinant factor viia 35 microg/kg was given as rescue therapy. The bleeding slowed, which allowed placement of chest tubes and closing of the sternum. The patient was transferred to the intensive care unit in stable condition with no evidence of thrombosis in the freshly placed bypass grafts or on the bioprosthetic valve. Recombinant factor viia appears to be a suitable option as salvage therapy in patients with refractory bleeding secondary to anticoagulation with a direct thrombin inhibitor during cardiac surgery.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
| | Next -> |