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Sole Abnormality (sole + abnormality)
Selected AbstractsExtra temporal involvement in herpes simplex encephalitisEUROPEAN JOURNAL OF NEUROLOGY, Issue 6 2005M. Wasay Temporal lobe abnormalities on brain imaging have been described as strong evidence for herpes simplex encephalitis (HSE) in appropriate clinical settings. Extra temporal abnormalities are less well described in these patients. We retrospectively reviewed 20 patients of HSE and found extra temporal involvement in 11 (55%) patients. Three patients (15 %) had pure extra temporal abnormalities. Twelve patients (60%) had temporal lobe involvement, four patients (20%) had pure temporal lobe involvement and five patients (25%) had normal CT/MRI scans. Our study suggests that extra temporal involvement on brain imaging is common in HSE and in a significant minority of the patients this can even be the sole abnormality. [source] PRDX4, a member of the peroxiredoxin family, is fused to AML1 (RUNX1) in an acute myeloid leukemia patient with a t(X;21)(p22;q22)GENES, CHROMOSOMES AND CANCER, Issue 4 2004Yanming Zhang The AML1 gene (also known as RUNX1) at 21q22 codes for core binding factor (CBF) ,, which forms a heterodimer with CBF , that acts as a transcriptional activating factor. CBF is a critical regulator in the generation and differentiation of definitive hematopoietic stem cells and is frequently disrupted in leukemia through chromosome translocations. We cloned a novel AML1 partner gene, PRDX4, in an X;21 translocation in a 74-year-old male patient diagnosed with acute myeloid leukemia,M2. Chromosome analysis detected a t(X;21)(p22;q22) as the sole abnormality in bone marrow samples. The involvement of AML1 was confirmed by fluorescence in situ hybridization studies. Using 3, RACE-PCR, we cloned a fusion between exon 5 of AML1 and exon 2 of PRDX4. RT-PCR confirmed the fusion and detected another fusion between exon 6 of AML1 and exon 2 of PRDX4, indicating alternative splicing of exon 6 of AML1 in the fusion transcripts. PRDX4 is one of six peroxiredoxin-family genes that are highly conserved in eukaryotes and prokaryotes and are ubiquitously expressed. Peroxiredoxin genes exhibit thioredoxin-dependent peroxidase activity and have been implicated in a number of other cellular functions such as cell proliferation and differentiation. PRDX4 plays a regulatory role in the activation of the transcription factor NF-,B and is significantly down-regulated in acute promyelocytic leukemia. This is the first example of antioxidant enzyme involvement in a chromosome translocation in leukemia. © 2004 Wiley-Liss, Inc. [source] Myelodysplastic syndrome associated with trisomy 2INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 4 2005M. HELLER Summary Clinical course and cytogenetic analysis suggest that myelodysplasia (MDS) is one step in a multistep model of malignant transformation of haematopoietic stem cells to acute myeloid leukaemia (AML). We report a further case of MDS associated with trisomy 2, and comment on the significance of the cytogenetic abnormality, which as a sole abnormality only occurs in MDS, but is found in combination with other chromosomal abnormalities in AML. Previous reports on balanced and unbalanced chromosomal abnormalities associated with therapy related MDS and therapy related AML suggest that trisomy 2 is an early chromosomal abnormality in leukaemogenesis. [source] Routine colonic mucosal biopsy and ileoscopy increases diagnostic yield in patients undergoing colonoscopy for diarrheaJOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 3 2002IAN F YUSOFF Abstract Background and Aims: In patients undergoing colonoscopy for diarrhea, when the examination is normal, the role of routine mucosal biopsy remains controversial, particularly in the open-access setting. It is uncertain whether routine ileoscopy adds anything to colonoscopy alone. We aimed to assess the yield of mucosal biopsy and ileoscopy in patients with diarrhea. Methods: We retrospectively reviewed all colonoscopies performed for diarrhea over a 9-year period in a tertiary referral center with an open-access service. We then selected cases where the examination was normal and biopsies were performed. The histopathology reports of these selected cases were then reviewed. Results There were 1131 cases identified. The mucosal examination was normal in 465 cases (41%); 362 of these had colonic biopsies performed. Histology was normal in 316 cases (87%) and was non-specific in 28 cases (8%). Significant histopathology was present in 18 cases (5%) with a significantly higher prevalence of microscopic colitis in patients above 60 years old. Ileoscopy was performed in 508 cases and was abnormal in 26 cases (5%). The abnormality on ileoscopy was the sole abnormality in 13 cases (3%). Conclusions Routine colonic mucosal biopsy and ileoscopy each identify significant additional pathology in 5% of cases when investigating patients with diarrhea, and are recommended as routine practice in this setting. We found ileal biopsy unhelpful when ileoscopy was normal. © 2002 Blackwell Science Asia Pty Ltd [source] | ||||||||||