Culture-negative bacterial endocarditis may be attributed to fastidious microorganisms, prior institution of antibiotic treatment, or both. We describe a case of culture-negative endocarditis in which a modified Steiner stain revealed bacterial structures in the resected heart valve material. Prompted by this finding, broad-range polymerase chain reaction (PCR) amplification of small-subunit ribosomal DNA (16S rDNA) was performed, and Cardiobacterium hominis sequences were detected. This case demonstrates the usefulness of both the Steiner stain and broad-range direct molecular amplification as supplemental diagnostic tools in identification of otherwise unexplained infections.
IntroductionArteriovenous Pearson syndrome is a very rare multisystemic mitochondrial disease characterized by sideroblastic anemia and exocrine pancreatic insufficiency. It is usually fatal in infancy.Case reportWe reported a four-month-old infant presented with fever and pancytopenia. Bone marrow examination showed hypoplastic changes and sideroblastic features. Molecular Study showed a novel hetroplasmic mitochondrial deletions (m. 10760 -m. 15889+) in multiple genes (ND4,ND5,ND6, CYTB). In our patient the pathogenic mutation was 5.1 kb heteroplasmic deletions in multiple genes that are important and crucial for intact oxidative phosphorylation pathway and ATP production in the mitochondrial DNA. This mutation was not reported in literature including the mitomap.org website (which was last edited on Nov 30, 2017 and accessed on Jan 13, 2018).
Introduction
extramedullary acute myeloid leukemia (eAML) is characterized by extramedullary tumor formation infiltrated by myeloid blasts, with or without maturation and effaced architecture. The clinical, genetic and molecular aspects and overall outcomes are well defined worldwide, but not well characterized in our region.
Purpose and methods
This is a retrospective single center cohort study on 32 patients, who were identified over 10 years to study the clinical, pathologic and genetic-molecular aspects, and survival outcomes.
Results
eAML is rare (1%), occurs at a younger age with male predominance. Central nervous system (CNS) with facial bone invasion is most commonly identified (34.4%). 45.5% were positive for conventional myeloid markers (MPO), CD33, CD117, and 36% positive for CD34 and CD68. 54% with normal karyotype had deleterious mutations on further testing. NGS revealed pathogenic mutations in 76%(N-9/17) and none tested positive for P53, IDH1 or IDH2. At a median follow up time of 43mo (range, 8.6–80mo); 37.5%(N-12) were in complete remission, 62.5%(N-20) relapsed. 28% of relapses were after allotransplant. 31%(N-10) alive and continued in complete remission(CR), and 69%(N-22) of patients have died.
Median overall survival (OS) is 18.4 and relapse free survival (RFS) 18.7 months. OS and RFS were significantly better in patients, who attained CR after induction (IC 11.9 mo vs zero; P = 0.0001; IC 12mo vs zero; P = 0.0001) compared to patients with relapsed disease; and in patients who received allo-transplant consolidation with median OS and RFS 42 vs 8.5mo (P = 0.002) and 42months vs 10 mo (P = 0.006). Thus allotransplant may be considered for all eligible patients in first CR.
Conclusion
achievement of complete remission after induction therapy is associated with improved outcomes in eAML. Allotransplant in first complete remission may be the most effective modality for achieving long-term remissions.
Objective: To study the immunophenotypic profile of acute leukemia cases, using multicolor flow cytometry for lineage subtyping. Methods: This is a retrospective review of acute leukemia cases conducted at department of Hematopathology at King Hussein Medical Center between January2011 to December 2013. A total of 340 acute leukemia cases were analyzed using flow cytometry method. The diagnosis was based on morphological assessment of peripheral blood and bone marrow aspirate smears and immunophenotyping by flow cytometry. Results: A total of 340 cases of acute leukemia were studied. 164 cases (48.2%) were acute lymphoblastic leukemia, 176 (51.8%) were acute myeloid leukemia. Acute leukemia was diagnosed among adults in 51.8% whereas 48.2% were children. Of the acute lymphoblastic leukemia cases, 130 cases (79.3%) were B-cell type and 34 cases (20.7%) were T-cell type. All cases of B-acute lymphoblastic leukemia showed expression of pan B-cell markers (CD19,CD22 and cytoplasmic CD79a) and 117 (90%) of cases expressed CD10. Cytoplasmic CD3 and CD5 were the most sensitive markers for diagnosis of T-acute lymphoblastic leukemia. Of the 176 cases of acute myeloid leukemia, 16 cases (9%) were identified as acute promyelocytic leukemia, while the rest 160 cases showed expression of CD34 and HLA-DR in 41.4% and 68.7% retrospectively. None of the cases of acute promyelocytic leukemia were positive for both CD34 and HLA-DR. CD13 and CD33 were expressed in all cases of acute myeloid leukemia studied. Conclusion: Flow cytometric immunophenotyping is a powerful method for accurate diagnosis, identification and subtyping of acute leukemia. Furthermore, it has a great therapeutic and prognostic implications on such cases with unique usefulness in differentiation between acute lymphoblastic leukemia and acute myeloid leukemia-M0. Immunophenotyping results of acute leukemia in this group of Jordanian patients were comparable to the international data. By combining morphology and immunophenotyping, we were able to diagnose and classify cases of acute leukemia at our center where peripheral blood and adequate bone marrow aspirates are available.
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