4. Hrvatski kongres kliniËke citologije 4th Croatian Congress ... - Penta

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4. Hrvatski kongres kliniËke citologije / 1. Hrvatski simpozij analitiËke citologije / 2. Hrvatski simpozij citotehnologije 100 Klinička citologija - Usmena predavanja AN UNUSUAL PRESENTATION OF GAUCHER’S DISEASE: AORTIC VALVE FIBROSIS IN A PATIENT HOMOZYGOUS FOR A RARE G377S MUTATION - A CASE REPORT Perić Z1 , Kardum-Skelin I1 , Jelić-Puškarić B1 , Letilović T2 , Vrhovac R1 and Jakšić B1 Department of Medicine, Divisions of Hematology1 and Cardiology2 , University Hospital Merkur, Zagreb, Croatia Gaucher’s disease (GD) has variable presentations, but cardiac involvement is a generally uncommon clinical manifestation of the disease. In the past 25 years, the underlying genetic disorder in GD has been well characterized, with almost 300 mutations identified in the glucocerebrosidase gene (GBA). Nevertheless, clear genotype-phenotype correlations have been confirmed only for the most frequent mutations. We present a female patient, who was known to have aortic valve pathology from the age of 30. Despite medical followup, at the age of 60 she presented with heart failure (NYHA III). At that time echocardiography showed severe fibrosed aortic valve stenosis. Valvuloplasty was planned, when thrombocytopenia, previously considered to be autoimmune, became severe. Anemia and leukopenia were also noted. Moderate splenomegaly and severe bone marrow infiltration were found on MRI. Bone marrow aspiration revealed typical Gaucher cells and the enzyme activity assay confirmed the diagnosis. DNA investigation showed that the patient is homozygous for the G377S mutation. To our knowledge, of all mutations identified so far, only homozygosity for the D409H mutation has been associated with cardiovascular valvular disease in patients with a rare type 3c GD. G377S, found in our patient, is a rare mutation, previously reported as a ‘mild’ mutation, because of the finding that homoallelic patients were essentialy asymptomatic or had mild disease. Our patient, also homozygous for G377S mutation, had a severe form of type 1 GD, with rare cardiac valve involvement, which is a previously unreported clinical presentation for this mutation. This case further proves that patients with the same genotypes can have different phenotypes, emphasizing the influence of other genetic and/or environmental factors. zina_peric@yahoo.com
Clinical Cytology - Oral Presentations EXPRESSION OF KI-67, P53 AND PROGESTERONE RECEPTORS IN UTERINE SMOOTH MUSCLE TUMORS. DIAGNOSTIC VALUE Petrović D, Babić D, Ilić Forko J, Martinac I Department of Gynecological and Prenatal Pathology, University Hospital Centre, Zagreb, Croatia Aim was to investigate expression of Ki-67, P53 and progesterone receptors (PR) in leiomyomas (LM), smooth muscle tumors of uncertain malignant potential (STUMP) and leiomyosarcomas (LMS) and to establish possible usefulness of these three parameters in distinguishing between LM and STUMP, and STUMP and LMS. Materials and methods. Retrospective study of 51 uterine smooth muscle tumors (16 LM, 18 STUMP, 17 LMS) technically acceptable for analyses from years 2002. - 2007. from Department of Gynecological and Prenatal Pathology, Zagreb University Hospital, Croatia. Immunohystochemical analysis of Ki-67, P53 and PR expression was performed. Non-parametric analysis of variance Kruskal-Walis test was performed. Results. Ki-67 expression was negative in all LM and higher than 5% in 12/18 STUMP and 10/17 LMS. Significant differences were observed between LM and STUMP expression for Ki-67 (P= 0.000), and LM and LMS expression for Ki-67 (P=0.000). There was no expression of P53 in LM, expression of P53 was found in 7/17 LMS and 5/18 STUMP. Expression of P53 was significant between LM and LMS (P=0.002), and between LM and STUMP (P=0.006). Expression of PR was found in 16/16 LM and 18/18 STUMP, 10/17 LMS did not show PR expression. Expression of PR was significant between LM and LMS (P=0.018) and STUMP and LMS (P=0.004). Conclusion. The findings of our study in concordance with other study results are helpful information establishing more diagnostic criteria and parameters for diagnosis in doubtful cases between three entities. Immunostaining for Ki-67, P53 and PR are such parameters. The panel of their expression in specific case eases diagnosis. dvrptrvc@yahoo.com 101 4 th Croatian Congress of Clinical Cytology / 1 st Croatian Symposium of Analytical Cytology / 2 nd Croatian Symposium of Cytotechnology
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Final programme and abstract book
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UTORAK, 13.10.2009. SRIJEDA, 14.10.
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