Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026986 (myelodysplastic syndrome)
 14,926 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 29-year-old Chinese woman developed pyrexia, multiple skin abscesses and bilateral fine nodular lung infiltrates about 3 months after the commencement of therapy for idiopathic thrombocytopenic purpura (ITP). Pseudomonas aeroginosa was isolated from the abscesses but multiple blood and sputum cultures, as well as a broncho-alveolar lavage did not yield any microorganisms. The persistence of fever and pulmonary infiltrates warranted an open lung biopsy which provided a definitive diagnosis of tuberculous-aspergillus granulomatous lung disease. Bone marrow re-examination revised the primary haematological disorder to that of a trisomy 8 associated myelodysplastic syndrome.
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PMID:Tuberculosis and invasive pulmonary aspergillosis in a young woman with a myelodysplastic syndrome. 757 Jan 23

We report two children who presented with cough and shortness of breath 7-8 months after a matched sibling stem cell transplant (SCT) for chronic myelogenous leukemia and myelodysplastic syndrome, respectively. Pulmonary function tests (PFTs) revealed severe airways obstruction (AO). However, radiographic investigations showed no serious abnormalities in the early phase and open lung biopsy revealed only mild lymphocytic bronchiolitis and bronchiolitis obliterans consistent with pulmonary graft-versus-host disease (GVHD). Despite administration of bronchodilators and various immunosuppressive agents obstructive lung disease progressed to pulmonary failure in patient 1, whereas stabilization of the clinical course was observed in patient 2. Serial PFTs were the best predictor of the clinical course in contrast to radiographic and histologic findings. It is concluded that PFTs should be performed repeatedly in pediatric patients after allogeneic SCT with the aim of diagnosing GVHD-associated AO in the subclinical phase. Progressive post-transplant AO necessitates prompt initiation of intensive immunosuppressive therapy in order to stop the underlying immunopathologic process even in the absence of severe radiographic and histologic findings.
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PMID:Discrepancy of clinical, radiographic and histopathologic findings in two children with chronic pulmonary graft-versus-host disease after HLA-identical sibling stem cell transplantation. 982 80

A case of 68 years old women suffering from chronic anemia, myelodysplastic syndrome and treated with progestogen due to endometrial hypertrophy is presented. Initially she was admitted to a regional hospital because of progressive weakness and exertional dyspnea. Three months earlier she reported an episode of acute dyspnea and chest pain. On the basis of clinical symptoms and perfusion lung scintigraphy pulmonary embolism (PE) was diagnosed. Patient received i.v. heparin which was changed to s.c. nadroparine subcutaneously. Platelet count dropped to 55,000'/ml on fifth day of treatment from initial level of about 200,000'/ml. Heparin induced thrombocytopenia was diagnosed, heparin was stopped and ticlopidine was recommended. After 3 weeks symptoms suggesting recurrent PE were observed. The patient was transferred to National Tuberculosis and Lung Diseases Research Institute. Recombinant hirudine (Refludan) was administrated (bolus 0.4 mg/kg and initial dose of infusion 0.1 mg/kg/h) overlapping with acenocoumarol from second day. Dose of r-hirudine was adjusted to achieve APTT prolongation 1.5 to 2.5 times of mid-normal range. During treatment with r-hirudine no bleeding and new thromboembolic complications occurred. Platelets count remained within normal range. After 14 days clinical improvement was observed, though symptoms of right ventricular overload and hypoxemia were still present after 6 months of treatment with oral anticoagulants suggesting chronic thromboembolic pulmonary hypertension.
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PMID:[Recombinant hirudine in suspected heparin induced thrombocytopenia--case report of pulmonary embolism]. 1143 91

We describe a 54-year-old man with highly refractory Sweet syndrome associated with autoimmune multifocal organizing pneumonia and underlying myelodysplastic disorder. His lung disease responded to oral cyclophosphamide. However, his skin disease and systemic symptoms followed a chronic course and responded only to very high doses of corticosteroid and were refractory to a number of corticosteroid-sparing agents. He was ultimately treated with infliximab, resulting in remission of his cutaneous and systemic symptoms and successful tapering of his corticosteroid dose. Subsequently, infliximab was replaced with adalimumab to achieve more sustained remission. His pulmonary lesions have not recurred on this treatment. His myelodysplastic syndrome followed a very slowly progressive course consistent with refractory anemia. This case report demonstrates the effectiveness of treatment with monoclonal antibody specific for tumor necrosis factor alpha (TNFalpha) in a patient with severe manifestations of Sweet syndrome refractory to other treatments.
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PMID:Refractory sweet syndrome with autoimmune organizing pneumonia treated with monoclonal antibodies to tumor necrosis factor. 1704 42

We describe a case of acquired monosomy 7 myelodysplastic syndrome (MDS) in a boy with congenital adrenocortical insufficiency, genital anomalies, growth delay, skin hyperpigmentation, and chronic lung disease. Some of his clinical manifestations were suggestive of dyskeratosis congenita (DC), while other features resembled IMAGe association. DC has been linked to mutations in telomere maintenance genes. The genetic basis of IMAGe association is unknown, although mice harboring a mutation in a telomere maintenance gene, Tpp1, have adrenal hypoplasia congenita. We considered the possibility that this patient has a defect in telomere function resulting in features of both DC and IMAGe association.
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PMID:Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association. 2883 35

Secondary pulmonary alveolar proteinosis (PAP) is a rare lung disease that has been reported in 13 cases of myelodysplastic syndromes (MDS). A dicentric isochromosome of deleted chromosome 20q, idic(20q-), is a newly recognized rare, but recurrent, cytogenetic anomaly that has been described in 28 cases of MDS. Recently, we encountered an interesting MDS patient with idic(20q-) and secondary PAP. At presentation, she was a 40-year-old woman with pancytopenia and dysplasia involving 2 cell lineages that were compatible with refractory cytopenia with multilineage dysplasia. A chromosome analysis of bone marrow cells using the R-banding technique revealed a karyotype of 46,XX,-20 and +a small metacentric marker chromosome. Fluorescence in situ hybridization demonstrated this marker chromosome to be idic(20q-). Three years after presentation, her disease was complicated by secondary PAP that was confirmed by chest computed tomographic scans and a thoracoscopic lung biopsy, revealing the characteristic periodic acid Schiff stain-positive materials filling the alveoli. The patient subsequently died of respiratory failure 45 months after diagnosis. To our knowledge, this is the first MDS patient with idic(20q-) and secondary PAP to be reported in the literature. Moreover, this patient is also the 29th MDS case with idic(20q-).
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PMID:Pulmonary alveolar proteinosis as a terminal complication in a case of myelodysplastic syndrome with idic(20q-). 1995 12

Pulmonary pathologists were aware of cases of idiopathic interstitial pneumonia (IIP) that morphologically did not fit Liebow's classification scheme. These cases were labeled as "cellular interstitial pneumonia" or "chronic interstitial pneumonia not otherwise specified." The term nonspecific interstitial pneumonia (NSIP) was first used in relation to a pattern of lung interstitial inflammation seen in association with human immunodeficiency virus (HIV) infection. In 1994 NSIP was used to indicate a group of subacute or chronic interstitial pneumonias characterized morphologically by interstitial inflammation or fibrosis or both, with preservation of the lung architecture and the absence of typical findings for any of the other main categories of IIP (mainly usual interstitial pneumonia, desquamative interstitial pneumonia, and bronchiolitis obliterans organizing pneumonia). Although these patients presented with "nonspecific" lung histology (categorized as cellular and fibrotic variants), and with a broad spectrum of associated clinical conditions, such as connective tissue diseases (CTDs), environmental exposure, and previous acute lung injury, they showed some peculiar clinical aspects, including favorable response to corticosteroid treatment and overall good prognosis.The clinical and radiographic profiles were better defined in the last decade. The NSIP pattern is the histological background of a subacute/chronic interstitial pneumonitis that may be observed in many conditions, including CTD, drug-induced lung disease, hypersensitivity pneumonitis, slowly healing diffuse alveolar damage (DAD), relapsing organizing pneumonia, occupational exposure, immunodeficiency (mainly HIV infection), graft versus host disease (GVHD), familial pulmonary fibrosis, immunoglobulin G4 (IgG4)-related sclerosing disease, with or without overlap features with Rosai-Dorfman disease, multicentric Castleman disease, and myelodysplastic syndrome. Rarely, NSIP is the histology recognized in patients with idiopathic interstitial pneumonitis, in whom efforts to find potential causative exposures are futile. This entity occurs mostly in middle-aged, never-smoker women, with a likely association with an autoimmune background. High-resolution computed tomographic (HRCT) scans typically demonstrate ground-glass attenuation with a bibasilar distribution, or in the fibrotic variant, ground-glass attenuation along with reticular lines and traction bronchiectasis. The prognosis is good compared with idiopathic pulmonary fibrosis (IPF), and therapeutic options include mainly corticosteroids and immunosuppressive agents. Recently a more precise definition of clinical profiles and radiographic findings of idiopathic NSIP allows consideration of less invasive diagnostic procedures (bronchoalveolar lavage, transbronchial lung biopsy). Better understanding of pathogenetic mechanisms might widen the therapeutic horizon giving a role to new therapeutic options in more severe cases.
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PMID:Current status of idiopathic nonspecific interstitial pneumonia. 2300 99

A variety of interstitial Lung Diseases (ILD) have been described in patients with myelodysplastic syndromes (MDS) with possible etiologies including autoimmunity, drug related toxicity, and recurrent infections. A comprehensive study of ILD in MDS patients has not been previously performed. Out of 827 consecutive biopsy proven MDS patients seen at our institution from June 1970-May 2010, 18 (2%) were found to have ILD. There was no statistical significance in baseline characteristics between patients with ILD (ILD +) vs those without ILD (ILD-). Cytogenetic studies were reported in 14 ILD+patients out of whom 43% had 5q- abnormalities (21% isolated and 22% part of complex karyotype). Prevalence of high risk MDS was similar between both groups (22% vs 29% in ILD-) with similar overall survival. ILD was diagnosed prior to MDS in the majority of cases (72%) with a median time to MDS diagnosis of 22.3 months. Our study suggests that ILD are present in a higher percentage than anticipated in the MDS population. Deletion 5q was frequent in ILD+ cases and this requires further study. Prior MDS treatment and autoimmunity seemed to play no significant role in ILD development.
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PMID:Deletion 5q is frequent in myelodysplastic syndrome (MDS) patients diagnosed with interstitial lung diseases (ILD): Mayo Clinic experience. 2772 Nov 63