Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027947 (neutropenia)
 17,527 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Diseases characterized by defective metaphyseal ossification, (metaphyseal chondrodysplasias) and defective spinal and metaphyseal ossification (spondylometaphyseal chondrodysplasias) constitute an important group of congenital intrinsic diseases of bones in which orthopedic treatment is of utmost interest. The most common types of metaphyseal chondrodysplasias (Jansen, Schmid, McKusick, and Metaphyseal Chondrodysplasia with Pancreatic Insufficiency and Neutropenia) and spondylometaphyseal chondrodysplasias (Kozlowski) have characteristic well-defined diagnostic features. The importance of proper diagnosis for practical reasons--appropriate medical and psychological treatment, professional training and genetic counseling--cannot be overemphasized. Elucidation of the pathogenesis in this group of diseases is bound to emerge from future histochemical and biochemical research.
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PMID:Metaphyseal and spondylometaphyseal chondrodysplasias. 126 Nov 38

In Japan, 5-FU/5-FU derivatives or the combination therapy of CAF (cyclophosphamide, CPA; adriamycin, ADM; 5-fluorouracil; 5-FU) have been commonly used for the adjuvant treatment of breast cancer. Recently, a combination of CEF (CPA; Epirubicin, EPI; 5-FU) has come to the stage of adjuvant setting, because the cardiotoxicity was reduced in EPI. In this study, we investigated the feasibility of 6 cycles of CEF (CPA 700 mg/m2, EPI 70 mg/m2, 5-FU 700 mg/m2; day 1 iv every 3-4 weeks) in the adjuvant treatment of primary breast cancer patients with nodal involvements. All 12 patients completed 6 cycles of CEF within 8 months. The median treatment duration was 6.2 months. More than Grade III side effects of neutropenia, nausea/vomiting and alopecia were observed in 7/12 (58.3%), 5/12 (41.7%) and 12/12 (100%), respectively. No serious side effects, including cardiotoxicity, were shown. CEF seems to be feasible regimen as an adjuvant treatment for breast cancer.
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PMID:[The feasibility of CEF (cyclophosphamide, epirubicin, 5-FU) regimen in the adjuvant setting of primary breast cancer]. 912 4

Thirty women (mean age 50.4 years, range 31-63) with primary advanced breast cancer were given EPI 40-60 mg/m(2) and DOC 50-60 mg/m(2) intravenously every three weeks. The efficacy was evaluated after 4 cycle treatments. There were 5 complete responses (CR) and 14 partial responses (PR), giving an overall response rate of 63.3%. There were 2 pathological CR (8%) which showed complete disappearance of cancer cells. The high dose group showed a better response than the low-dose group. The most common grade 3/4 adverse events were neutropenia (26.7%) and general fatigue (6.7%). The simultaneous combination treatment of EPI and DOC is effective for primary chemotherapy and can be performed safely even for outpatients.
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PMID:[Efficacy and toxicity of combination treatment with epirubicin (EPI) plus docetaxel (DOC) in advanced breast cancer]. 1710 23

Exocrine pancreatic insufficiency and diarrhea have been hallmarks in the diagnosis of Shwachman-Diamond syndrome (SDS). We report 2 cases of genetically confirmed SDS in patients who presented with an unusual phenotype. Patient #1 presented with pancytopenia without other system involvement, while patient #2 presented with severe neutropenia, anemia, and a bifid thumb. Neither patient had diarrhea or malabsorption. Both patients had the classic heterozygous mutations c183_184 TA>CT and c.258+2 T>C in the Shwachman-Bodian-Diamond syndrome gene. Incomplete phenotypes may be more common than previously recognized in bone marrow failure syndromes; gastrointestinal symptoms should not be considered a prerequisite for SDS.
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PMID:Shwachman-Diamond syndrome: diarrhea, no longer required? 2293 61

Docetaxel or Epirubicin-based regimens are both approved for the treatment of metastatic gastric cancer. We perform a systemic review with metanalysis to evaluate the efficacy and toxicities of docetaxel-based chemotherapy compared with epirubicin-containing regimens. A metaanalysis of randomized studies in accordance with the preference guidelines for reported items in systematic reviews and meta-analyses is performed in which the databases of PubMed, the Cochrane Library, and the ASCO University Meeting were searched for relevant publications. The primary outcome was efficacy, the secondary toxicities. A total of 553 cases were included in the meta-analysis; 278 received epirubicin-based treatment and 313 received docetaxel. The pooled risk ratio to achieve an objective response and a disease control rate were 1.08 (95% CI 0.85-1.37; P=0.52) and 0.90 (95% CI 0.75-1.08; P=0.27) respectively. EPI arm showed a decrease in the risk of neutropenia, anemia, fatigue, asthenia and diarrhea, paraesthesia; docetaxel arm showed a decrease in the risk of leucopenia, thrombocytopenia, anorexia, nausea, nausea-vomiting, stomatitis and neutropenic fever. The results of our study suggest a similar activity of docetaxel and epirubicin-based chemotherapeutic regimens in metastatic gastric cancer. Other parameters as, comorbidity, concomitant diseases and prior therapies should be taken into account to address the clinician's choice in selecting the best therapeutical approach for any single patient.
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PMID:Epirubicin-based compared with docetaxel-based chemotherapy for advanced gastric carcinoma: A systematic review and meta-analysis. 2708 92

Conventional anthracyclines represent a cornerstone drug in the treatment of breast cancer. Pegylated liposomal doxorubicin (PLD) has similar efficacy to anthracyclines with reduced toxicity. This study was to compare the efficacy and safety of PLD-based neoadjuvant chemotherapy (NAC) with epirubicin-based treatment for breast cancer. 81 breast cancer patients were enrolled in this retrospective study. The objective response rate (ORR) in the PLD group was 74.1%, the 3-year disease-free survival(DFS) and overall survival(OS) were 81.5% and 88.9%. The PLD group achieved similar efficacy to the EPI group. The PLD group showed a low rate of neutropenia , nausea and vomiting, but a higher rate of mucositis and hand-foot syndrome. In neoadjuvant chemotherapy for invasive breast cancer, PLD provides comparable efficacy to epirubicin with a safe cardiac toxicity profile and manageable adverse effects.
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PMID:Pegylated liposomal doxorubicin as neoadjuvant therapy for stage II-III locally advanced breast cancer. 3228 93