scholarly journals Fluorescence in situ hybridisation analysis of chromosomal aberrations in gastric tissue: the potential involvement of Helicobacter pylori

2005 ◽  
Vol 92 (9) ◽  
pp. 1759-1766 ◽  
Author(s):  
L Williams ◽  
G J S Jenkins ◽  
S H Doak ◽  
P Fowler ◽  
E M Parry ◽  
...  
2004 ◽  
Vol 14 (6) ◽  
pp. 622-629 ◽  
Author(s):  
Ruth Schellberg ◽  
Gesa Schwanitz ◽  
Lutz Grävinghoff ◽  
Rolf Kallenberg ◽  
Detlef Trost ◽  
...  

We investigated a group of 376 children, seen over a period of 7 years with different types of congenital cardiovascular defects, to assess the presence of chromosomal aberrations. The diagnostic approach, achieved in 3 consecutive steps, revealed conventional chromosomal aberrations in 30 of the patients (8%) excluding trisomies 13, 18, 21. Fluorescence in situ hybridisation for microdeletions showed 51 microdeletions (15%), with 43 patients having deletions of 22q11.2, 7 patients with deletion of 7q11.23, and 1 patient with deletion of 4p16.3. In 23 patients with additional clinical abnormalities, we carried out a subtelomeric screening. This revealed, in two cases (9%), different subtelomeric aberrations, namely deletions of 1p and of 1q. Thus, subtelomeric screening proved to be a very valuable as a new diagnostic approach. Our approach to genetic investigation in three phases makes it possible to detect a high rate of pathologic karyotypes in patients with congenital cardiovascular malformations, thus guaranteeing more effective genetic counselling of the families, and a more precise prognosis for the patient.


1999 ◽  
Vol 52 (1) ◽  
pp. 42-46 ◽  
Author(s):  
M. J. Worsham ◽  
S. R. Wolman ◽  
T. E. Carey ◽  
R. J. Zarbo ◽  
M. S. Benninger ◽  
...  

2020 ◽  
Vol 6 (1) ◽  
pp. 205511691989975
Author(s):  
Domenico Sainato ◽  
Filippo Cinti ◽  
Helen Renfrew

Case summary A 3-year-old neutered male indoor British Shorthair cat was referred for a 2-week history of intermittent right forelimb lameness. Radiographic examination showed a diaphyseal monostotic, expansile, fusiform, lytic lesion in the right ulna. CT further defined the lesion and also demonstrated ipsilateral pulmonary consolidation. Histology was conclusive of osteomyelitis, and microbiology and fluorescence in situ hybridisation analysis (FISH) were negative on aerobic and anaerobic bacterial culture, as well as fungal culture. Clinical and radiographic improvement was seen after anti-inflammatory treatment and a short initial period of antibiosis. Relevance and novel information This is an unusual monostotic diaphyseal cortical location for osteomyelitis in cats and, moreover, may represent a rare case of sterile osteomyelitis. To our knowledge, non-traumatic osteomyelitis in this location in cats has not been reported in the veterinary literature.


2010 ◽  
Vol 63 (8) ◽  
pp. 737-740 ◽  
Author(s):  
Ayda Bennour ◽  
Nathalie Beaufils ◽  
Halima Sennana ◽  
Balkis Meddeb ◽  
Ali Saad ◽  
...  

The development of imatinib is a milestone in the treatment of chronic myeloid leukaemia (CML), and its therapeutic effect has been extensively investigated in patients with CML who carry M-bcr and m-bcrBCR–ABL fusion transcripts. However, knowledge about its therapeutic effect on patients with CML who have the rare BCR–ABL fusion transcript e19a2 (μ-bcr) remains sparse. This report describes a patient with Philadelphia-positive chronic myeloid leukaemia with e19a2 rearrangement, in whom E355G mutation had been acquired. The patient was resistant to imatinib treatment based on conventional cytogenetic and fluorescence in situ hybridisation analysis.


2014 ◽  
Vol 67 (12) ◽  
pp. 1038-1043 ◽  
Author(s):  
Maiko Takeda ◽  
Takahiko Kasai ◽  
Yasunori Enomoto ◽  
Masato Takano ◽  
Kohei Morita ◽  
...  

AimsMalignant mesothelioma (MM) results from the accumulation of a number of acquired genetic events at the onset. In MM, the most frequent changes are losses in 9p21, 1p36, 22q12 and 14q32, and gains in 5p, 7p and 8q24 by comparative genomic hybridisation analysis. We have examined various genomic losses and gains in MM and benign mesothelial proliferation by fluorescence in situ hybridisation (FISH) analysis. 9p21 deletion was reported to be less frequent in peritoneal than in pleural MMs. This study analysed various genomic losses and gains in MM by the site of origin using FISH analysis.Materials and methodsWe performed FISH analysis using paraffin-embedded tissues from 54 cases (40 pleural and 14 peritoneal) of MMs and compared the frequency of genomic abnormality by the site of origin.Results9p21 deletion was shown in 34 of 40 cases (85%) of pleural MMs, and was less frequent in five of 14 cases (36%) of peritoneal MMs (p<0.001) by FISH analysis. By contrast, 5p15 and 7p12 amplification was more significantly frequent in peritoneal than in pleural MMs. No difference between the two sites of MM in other genes was found.Conclusions9p21 homozygous deletion assessed by FISH has been reported to be useful for differentiating MM from reactive mesothelial proliferation, but it should be noted that 9p21 deletion was less frequent in peritoneal MM. Our study suggests that the pathway of the genetic abnormality might vary between pleural and peritoneal MM.


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