ABSTRACT
Aggressive angiomyxoma [AA] is a rare mesenchymal tumor that usually occurs in the pelvis and perineum of young females. AA can simulate Bartholin's gland cyst, abscess, lipoma, simple labial cyst, or other pelvic soft tissue tumors. Cross-sectional imaging, particularly magnetic resonance imaging [MRI], plays an essential role in the diagnosis and management of AA. We report a case of AA in a 38-year-old woman with typical MRI features. We also present the findings of a literature review on the radiological features of this disease
ABSTRACT
Anomalous origin of the left coronary artery from the pulmonary artery [ALCAPA] is a rare congenital coronary abnormality also known as Bland-White-Garland syndrome. The incidence of ALCAPA is about 1 in every 300,000 live births, and constitutes 0.24% and 0.46% of all congenital cardiac disease. It has a high infant mortality rate reaching up to 90% if left untreated. For many years, the diagnosis of ALCAPA was by angiography or autopsy. However, multislice computed tomography [MSCT] is a non-invasive imaging tool that allows accurate, non-invasive diagnosis of ALCAPA. Here we report a case of ALCAPA in a six-month-old girl who presented with a two-week history of cough, fever, tachypnea, and sweating during feeding. During admission, an echocardiogram was performed that revealed ALCAPA, which was confirmed using CT. We discuss the role of MSCT in its diagnosis
ABSTRACT
Background: Molecular marker based cancer diagnosis gaining more attention in the current genomics era. So, Hspb1 and Tp53 gene characterization and their mRNA expression might be helpful in diagnosis and prognosis of cat mammary adenocarcinoma. It will also add information in comparative cancer genetics and genomics
Objectives: Eight tumors of Siamese cats were analyzed to ascertain germ-line and tissue-specific somatic DNA variations of Hspb1 and Tp53 genes along with the ectopic differential expression in tumorous and normal tissues were also analyzed
Materials and Methods: Tumorous tissues and peripheral blood from mammary adenocarcinoma affected Siamese cats were collected from the Pet center-UVAS. DNA and RNA were extracted from these tissues to analyze the Hspb1 and Tp53 DNA variants and ectopic expression of their mRNA within cancerous and normal tissues
Results: Exon 1 and 3 revealed as hotspots in Hspb1 gene. The 5'UTR region of the exon1 bearsix mutation including 3 transitions, 2 transversion and one heterozygous synonymous transversion in two samples at locus c.34C>C/A. Exon 3 has 1 transversion at c.773A>A/T, 3'UTR of this exon harbor two point mutations at 1868A>T and 2193C>T loci. Intron 2 has two alterations at 1490C>C/T and GTCT4del at 1514. Overall up-regulation of Hspb1 gene was observed. While exons 3, 4 and 7 of Tp53 harbor a single variationat c.105A>A/G, c.465T>T/C and c.859G>T respectively. The locus c.1050G>G/A in exon 9 is a heterozygous [G/A] in 3 samples and homozygous [G] in 2 other tumours. Introns 3, 5, 7 and 9 harbor 3, 4, 2 and 7 altered loci respectively. Sixty percent of cancers showed up-regulated trend of Tp53 gene
Conclusions: Tumor specific mutations and ectopic expression of Hspb1 and Tp53 genes might be helpful in the diagnosis of the mammary lesions and endorse their involvement in cat mammary neoplasm