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    Early-onset colorectal cancer in a young woman with type 1 Gaucher disease
    (European Federation of Internal Medicine (EFIM), 2022-06-15)
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    Popova-Labachevska, Marija
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    Stojanovska-Jakimovska, Simona
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    Introduction Gaucher disease (GD) is a rare inherited lysosomal storage disease characterized by multi-system impairment. One of its main features is the over-expressed chronic stimulation and activation of the immune system, which may play a crucial role in the development of some malignancies associated with GD. Case description We describe a young woman diagnosed with GD type 1 in early adulthood who developed early-onset colorectal cancer shortly after GD diagnosis and the initiation of enzyme replacement therapy. She underwent radical surgical resection of the colon and adjuvant chemotherapy due to metastatic disease in the liver. She failed first-line therapy with capecitabine and is currently being treated with irinotecan plus the monoclonal antibody cetuximab. Discussion Although there is no evidence of an association between GD and colorectal cancer, this presentation in a young woman without a family history or risk factors may indicate a link. During anticancer treatment, only grade 3 anaemia was documented and no other haematological toxicities were observed. Enzyme replacement therapy at the recommended dose is regularly administered at scheduled intervals. The dosage may be increased in future if necessary to alleviate profound cytopenia. Conclusion Anticancer treatment in patients with GD can be challenging due to the accompanying cytopenia. Optimal treatment of these patients with cancer requires greater understanding of the pathophysiology of GD and its impact on haematopoiesis.
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    THE VALUE OF SERUM-ASCITES ALBUMIN GRADIENT AS A PREDICTOR OF SPONTANEOUS BACTERIAL PERITONITIS IN PATIENTS WITH LIVER CIRRHOSIS AND ASCITES
    (2022-09)
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    Due to the high risk of adverse outcome, identifying predisposing factors for spontaneous bacterial peritonitis (SBP) is of paramount importance. Serum ascites albumin gradient (SAAG) has recently been included in the recommendations for the management of ascites in patients with cirrhosis by some associations. ; Aim - to determine the value of SAAG as a predictor of SBP and to compare the average values of SAAG in patients with SBP and non-SBP.; The study was designed as a prospective-analytical-observational and was conducted at the University Clinic for Gastroenterohepatology in Skopje in one-year period. The study population included 70 patients hospitalized patients with established liver cirrhosis, regardless of etiology They were divided into two groups, 35 patients with SBP and 35 non-SBP, with similar demographic characteristics as the SBP group with sterile ascites, in which all variables were examined as in the study group. The selection of patients who were included in the study was conducted according to predetermined inclusion and exclusion criteria.; The average value of SAAG in SBP was 19.0±4.6, and in non-SBP it was higher (23.2±5.5). The difference between the mean values was statistically significant for p<0.05 (t-test = 3.46512; p=0.000992). The univariate analysis of SAAG in prediction of SBP showed that SAAG <20 g/L significantly increased the chance of SBP by five times (Exp (B) = 5.337 (CI (1.976-15.516)).; Our analysis registered a statistically significant difference between the average values of SAAG in both groups. SAAG is a good predictor, significantly associated with the occurrence of SBP. Additional and extensive studies are necessary in order to confirm our conclusion in the future.