scholarly journals Fluorescence in situ hybridisation analysis and ovarian histology of women with Turner syndrome presenting with Y-chromosomal material: a correlation between oral epithelial cells, lymphocytes and ovarian tissue

Hereditas ◽  
2002 ◽  
Vol 137 (1) ◽  
pp. 1-6 ◽  
Author(s):  
LARS HANSON1 ◽  
INGER BRYMAN1 ◽  
PER OLOF JANSON1 ◽  
ANNE-MARIE JAKOBSEN2 ◽  
CHARLES HANSON1
Keyword(s):  
Epithelial Cells ◽  
Turner Syndrome ◽  
Ovarian Tissue ◽  
In Situ Hybridisation ◽  
Fluorescence In Situ Hybridisation ◽  
Oral Epithelial Cells ◽  
Ovarian Histology ◽  
Hybridisation Analysis ◽  
Oral Epithelial

scholarly journals Sterile osteomyelitis in the ulnar diaphysis of a young indoor cat

2020 ◽  
Vol 6 (1) ◽  
pp. 205511691989975
Author(s):  
Domenico Sainato ◽  
Filippo Cinti ◽  
Helen Renfrew
Keyword(s):  
Initial Period ◽  
In Situ Hybridisation ◽  
Radiographic Examination ◽  
Lytic Lesion ◽  
Fungal Culture ◽  
Fluorescence In Situ Hybridisation ◽  
History Of ◽  
Hybridisation Analysis ◽  
The Right

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.

E355G mutation appearing in a patient with e19a2 chronic myeloid leukaemia resistant to imatinib

2010 ◽  
Vol 63 (8) ◽  
pp. 737-740 ◽  
Author(s):  
Ayda Bennour ◽  
Nathalie Beaufils ◽  
Halima Sennana ◽  
Balkis Meddeb ◽  
Ali Saad ◽  
...  
Keyword(s):  
Chronic Myeloid Leukaemia ◽  
Myeloid Leukaemia ◽  
Therapeutic Effect ◽  
In Situ Hybridisation ◽  
Fusion Transcript ◽  
Imatinib Treatment ◽  
Fluorescence In Situ Hybridisation ◽  
Fusion Transcripts ◽  
Hybridisation Analysis

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.

Comparison of genomic abnormality in malignant mesothelioma by the site of origin

2014 ◽  
Vol 67 (12) ◽  
pp. 1038-1043 ◽  
Author(s):  
Maiko Takeda ◽  
Takahiko Kasai ◽  
Yasunori Enomoto ◽  
Masato Takano ◽  
Kohei Morita ◽  
...  
Keyword(s):  
Malignant Mesothelioma ◽  
In Situ Hybridisation ◽  
Homozygous Deletion ◽  
Comparative Genomic Hybridisation ◽  
Comparative Genomic ◽  
Fish Analysis ◽  
Fluorescence In Situ Hybridisation ◽  
Hybridisation Analysis ◽  
Genetic Events

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.

scholarly journals Chromosomal microarray detects genetic risks of neurodevelopmental disorders in newborns with congenital heart disease

2021 ◽  
pp. 1-8
Author(s):  
Kamalvir Gill ◽  
Jun Sasaki ◽  
Parul Jayakar ◽  
Lisa Sosa ◽  
Elizabeth Welch
Keyword(s):  
Genetic Testing ◽  
Neurodevelopmental Disorders ◽  
In Situ Hybridisation ◽  
Multidisciplinary Care ◽  
Chromosomal Microarray ◽  
Fluorescence In Situ Hybridisation ◽  
Genetic Abnormalities ◽  
Common Diagnosis ◽  
Hybridisation Analysis

Abstract Objective: To compare the genetic testing results of neonates with CHD by chromosomal microarray to karyotyping and fluorescence in situ hybridisation analysis. Methods: This was a single-centre retrospective comparative study of patients with CHD and available genetic testing results admitted to the cardiac ICU between January, 2004 and December, 2017. Patients from 2004 to 2010 were tested by karyotyping and fluorescence in situ hybridisation analysis, while patients from 2012 to 2017 were analysed by chromosomal microarray. Results: Eight-hundred and forty-nine neonates with CHD underwent genetic testing, 482 by karyotyping and fluorescence in situ hybridization, and 367 by chromosomal microarray. In the karyotyping and fluorescence in situ hybridisation analysis group, 86/482 (17.8%) had genetic abnormalities detected, while in the chromosomal microarray group, 135/367 (36.8%) had genetic abnormalities detected (p < 0.00001). Of patients with abnormal chromosomal microarray results, 41/135 (30.4%) had genetic abnormality associated with neurodevelopmental disorders that were exclusively identified by chromosomal microarray. Conotruncal abnormalities were the most common diagnosis in both groups, with karyotyping and fluorescence in situ hybridisation analysis detecting genetic abnormalities in 26/160 (16.3%) patients and chromosomal microarray detecting abnormalities in 41/135 (30.4%) patients (p = 0.004). In patients with d-transposition of the great arteries, 0/68 (0%) were found to have genetic abnormalities by karyotyping and fluorescence in situ hybridisation compared to 7/54 (13.0%) by chromosomal microarray. Conclusions: Chromosomal microarray identified patients with CHD at genetic risk of neurodevelopmental disorders, allowing earlier intervention with multidisciplinary care and more accurate pre-surgical prognostic counselling.

scholarly journals Agar pre-embedding of small skin biopsies: real-life benefits and challenges in high throughput pathology laboratories

2019 ◽  
Vol 72 (6) ◽  
pp. 448-451 ◽  
Author(s):  
Mara Ridolfi ◽  
Michele Paudice ◽  
Sandra Salvi ◽  
Luca Valle ◽  
Marina Gualco ◽  
...  
Keyword(s):  
In Situ Hybridisation ◽  
Real Life ◽  
Fluorescence In Situ Hybridisation ◽  
Tissue Samples ◽  
Paraffin Embedding ◽  
Embedding Technique ◽  
Skin Biopsies ◽  
Hybridisation Analysis ◽  
Time Required

Paraffin embedding of small, thin tissue samples requires specific expertise for optimal orientation before tissue sectioning. This study evaluates the real-life utility of the agar pre-embedding technique for small skin biopsies with regards to lengthening of work times, problems in orientation (re-embedding) and ancillary techniques (immunohistochemistry and in situ hybridisation) between two high work flow pathology laboratories, one of which routinely uses the agar pre-embedding technique and one which does not. The mean time required for pre-embedding in agar was 30.4 s, but time for paraffin embedding for agar pre-embedded samples was shorter than the traditional method (177 vs 296 s; p<0.005). The number of skin samples requiring re-embedding was significantly higher with the traditional embedding method (p<0.005). No problems in immunoreactivity were observed in all 1900 reactions performed with 17 different antibodies. Fluorescence in situ hybridisation analysis was optimised with a prolonged protease K incubation time (21 vs 18 min).

scholarly journals Disorder of Sexual Development Males With XYY in Blood Have Exactly X/XY/XYY Mosaicism in Gonad Tissues

2021 ◽  
Vol 12 ◽  
Author(s):  
Yongjia Yang ◽  
Fang Chen ◽  
Zhenqing Luo ◽  
Yu Zheng ◽  
Jiayong Zheng ◽  
...  
Keyword(s):  
Epithelial Cells ◽  
Y Chromosome ◽  
Sex Chromosome ◽  
Testicular Biopsy ◽  
Oral Epithelial Cells ◽  
Sex Development ◽  
Disorder Of Sexual Development ◽  
Oral Epithelial ◽  
The Relationship

Y chromosome represents masculinization. The extra Y chromosome of XYY patients usually leads to over-masculinization phenotypes. The occurrence of several DSD cases with XYY in blood is controversial. Is XYY associated with disorder of sex development (DSD)? What is the mechanism behind DSD in males with XYY in blood? To this end, this study retrospectively analyzed blood-karyotype data of 4,437 DSD male children and karyotypes data of 6,259 newborn males as the control. Exome sequencing (ES) was performed to test whether the patients with DSD and with XYY in blood had other variants on known DSD-genes. Testicular biopsy was performed. Fluorescence in situ hybridization (FISH) was used to test whether a sex chromosome mosaicism was present in the oral epithelial cells or gonad tissue of patients with DSD and with XYY in blood. Among 4,437 DSD males who received cytogenetic evaluation, 14 patients with 47,XYY were identified. By contrast, five individuals among the 6,259 controls had 47,XYY. XYY in blood is more frequent among males with DSD than in other males (p = 0.004). The XYY karyotypes were confirmed again by GTG-banding in blood samples and by FISH performed on oral epithelial cells. ES on seven XYY DSD patients was successfully performed, but results did not identify any pathogenic variant on 55 known DSD genes. Gonad biopsy (n = 3) revealed testicular dysplasia and true hermaphroditism. FISH of gonad tissues (n = 3) showed that all of the samples had mosaic for X/XY/XYY. This study is the first to investigate the relationship between XYY in blood and DSD. The knowledge that XYY is in the blood and in oral cells have X/XY/XYY mosaicism in gonadal tissue is new for both researchers and clinicians who seek to understand the genetic basis of DSD males.

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