Faculty of Medicine

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    Programmed death-ligand 1 expression in triple negative breast cancer
    (Springer, 2019-09)
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    Background & Objectives: Triple negative breast cancer (TNBC) account for 10-20% of all breast subtypes and are associated with poor prognosis. There is no approved targeted therapy for these patients, yet. Programmed death-ligand 1 (PD-L1) expression has been identified in different cancers achieving good results with immunotherapy. There is limited data reporting the PD-L1 expression in TNBC. The aim of this study is to evaluate the expression of PD‑L1 in TNBC patients and to analyse the relationship between PD‑L1 expression and clinicopathological features of the patients. Methods: Paraffin tissue blocks from 19 TNBC patients were used. PD-L1 immunohistochemistry was performed using monoclonal mouse anti-PD-L1, Clone 22C3. Expression of PD-L1 was correlated with clinicopathological features. Tumours were defined as PD-L1 positive if there was membranous expression in ≥ 1% of tumour cells. Results: Median age at diagnosis was 56 (range 33-74). PD-L1 was expressed in 7 (36, 8%) of the patients. Six of the patients showed low PD-L1 expression (3-20%) and only one patient showed high expression (>50%). The PD-L1 expression showed no significant correlation with clinicopathological parameters. Although statistically not significant (p>0,05), PD-L1 was more often expressed in high grade tumours with larger size, high clinical stage and mutated p53. Conclusion: Expression of PD-L1 was found in more than one third of TNBC and correlated with poor prognostic factors. PD‑L1 may be a significant marker for predicting prognosis of TNBC patients. These data need to be confirmed in larger study group.
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    Rhabdomyolysis and Cardiomyopathy in a 20-Year-Old Patient with CPT II Deficiency
    (Hindawi Limited, 2014-01-20)
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    Zafirovska, P
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    Caparovska, E
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    Pocesta, B
    Aim. To raise the awareness of adult-onset carnitite palmitoyltransferase II deficiency (CPT II) by describing clinical, biochemical, and genetic features of the disease occurring in early adulthood. Method. Review of the case characteristics and literature review. Results. We report on a 20-year-old man presenting with dyspnea, fatigue, fever, and myoglobinuria. This was the second episode with such symptoms (the previous one being three years earlier). The symptoms occurred after intense physical work, followed by a viral infection resulting in fever treated with NSAIDs. Massive rhabdomyolysis was diagnosed, resulting in acute renal failure necessitating plasmapheresis and hemodialysis, acute hepatic lesion, and respiratory insufficiency. Additionally, our patient had cardiomyopathy with volume overload. After a detailed workup, CPT II deficiency was suspected. We did a sequencing analysis for exons 1, 3, and 4 of the CPT II gene and found that the patient was homozygote for Ser 113 Leu mutation in exon 3 of the CPT II gene. The patient recovery was complete except for the cardiomiopathy with mildly impaired systolic function. Conclusion. Whenever a patient suffers recurrent episodes of myalgia, followed by myoglobinuria due to rhabdomyolysis, we should always consider the possibility of this rare condition. The definitive diagnose of this condition is achieved by genetic testing.