Publications by authors named "Yeghen T"

Article Synopsis
  • Fetal hemoglobin (HbF) plays a significant role in influencing the severity of sickle cell disease (SCD) and is linked to three common genetic loci.
  • Researchers used statistical methods to analyze specific genetic variants related to HbF levels in patients with SCD, focusing on individuals aged 5 and older with relevant genotype and HbF data.
  • Their findings narrowed down seven genetic variants to four significant markers that together explain approximately 21.8% of HbF variability in the study population, with results validated in two additional cohorts, highlighting the model's potential for future genetic research and clinical applications in SCD.
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A 29-year-old woman presented with neutropenic sepsis and was found to have a new diagnosis of acute myeloid leukaemia. Following initiation of induction chemotherapy the patient became increasingly unwell with ongoing sepsis despite broad-spectrum antibiotic treatment. An extensive septic screen failed to identify a source, other than the finding of a peripancreatic mass on imaging.

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Unilateral renal cystic disease (URCD) is a rare condition, with pathological features indistinguishable from autosomal dominant polycystic kidney disease (ADPKD). In contrast to this condition, however, URCD is not inherited, is not associated with progressive deterioration in renal function, and is unilateral. We present a case of URCD associated with polycythaemia, which showed resolution following nephrectomy.

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Hyperhaemolysis syndrome (HS), a syndrome in which there is destruction of both donor and recipient red cells after transfusion, is well recognised in patients with sickle cell disease and beta-thalassaemia. It has also been reported in a patient with myelofibrosis. In acute forms of HS, evidence of red cell antibody-mediated haemolysis is lacking, and it has been proposed that the transfused and the patient's own red blood cells were destroyed by hyperactive macrophages.

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Neutrophils are the body's main defence against invasion by bacteria and fungi and, below a level of 1 x 10(9)/l, there is a direct relationship between their circulating number and the risk of systemic infection. Despite advances in supportive care, such as improved broad-spectrum antibiotics and the haemopoietic growth factors, neutropenia following myelosuppressive chemotherapy for malignant disease remains the most important cause of treatment-related morbidity and mortality and its most important dose-limiting toxicity. Although there is clear theoretical, experimental and anecdotal clinical evidence supporting the use of transfused granulocytes to prevent and treat infection in neutropenia, early attempts at exploiting this clinically were unsuccessful, mainly because of difficulties in collecting a sufficient number of cells.

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Non-caseating granuloma (NCG) remains a histopathological hallmark for sarcoidosis. Although the exact mechanism for NCG formation is unknown, the pathogenesis may involve a disordered antigen presentation in the monocyte/macrophage system, functional abnormalities in activated T-lymphocytes and uncontrolled cytokine production. Similar immunological dysfunction has been described in myelodysplastic syndrome (MDS).

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Eighty-seven patients with hematologic malignancies and invasive pulmonary aspergillosis (IPA) were identified between 1982 and 1995. Of these, 39 underwent lung resection on the basis of radiological detection of at least 1 lesion with imaging suggestive of aspergillosis (LISA). IPA was confirmed histologically in 35.

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Gastrointestinal mucormycosis is a rare, often fatal, systemic infection found predominantly in immunocompromised patients. We report a case of gastrointestinal mucormycosis in a 53-year-old female with non-Hodgkin's lymphoma. Following her first course of chemotherapy, bowel obstruction developed as a result of mucormycosis.

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A patient with relapsed refractory acute myeloid leukaemia developed typical fungal lung lesions despite intravenous amphotericin B prophylaxis. Chaetomium globosum was cultured from the resected right lower lobe. Histology showed branching hyphae negative for common Aspergillus species by immunohistochemical staining.

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We report a patient with sickle cell anemia (homozygous Hb SS) and typical features of sickle chest syndrome but with no response to exchange transfusion. A right atrial thrombus was found, and antiphospholipid antibodies were detected in his blood. He responded to thrombolytic therapy.

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