Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression.

The majority of Gaucher Disease (GD) cases result from pathologic mutations in the GBA1 gene. A rich mutational spectrum of about 500 identified variants has been recognized. The disease is characterized by phenotypic diversity.

A Rare Case of Soft Tissue Erdheim Chester Disease: Diagnostic Dilemma and Management.

Background: Erdheim Chester disease (ECD) is a rare form of non-Langerhans histiocytosis that still presents a diagnostic and clinical dilemma.

Case Presentation: We present a rare case of ECD, young 31 male with atypical localisation and soft tissue presentation and no bone involvement. He started clinical investigations due to subcutaneous tumour mass in the lumbar spine that caused severe back pain.

Moleculary Confirmed, Cytogenetic Remission in a Case with Myelodysplastic Syndrome Treated with Azacitidne.

Myelodysplastic syndrome (MDS) is a diverse group of clonal hematologic neoplasms. The only curative treatment for MDS is allogeneic stem cell transplantation (SCT). Epigenetic changes play an important role in the pathogenesis of MDS and treatment with DNA methyl transferase inhibitors, Azacitidine, significantly prolong the survival of high-risk MDS patients.

Diversities of Calreticulin Gene Mutations in Macedonian Patients With Essential Thrombocythemia.

Background: Acquired calreticulin (CALR) gene mutations are one of the molecular hallmarks of essential thrombocythemia (ET). It has been suggested that patients with ET with CALR mutations are associated with a distinct clinical phenotype.

Patients And Methods: We evaluated the clinical and molecular features of 150 patients with ET followed over a period of 15 years.

Multivariable model consisting of clinical and biological markers for time to first treatment in CLL patients: Preliminary results from single centre experience.

Introduction: The clinical course for patients with chronic lymphocytic leukaemia (CLL) is extremely heterogeneous; one of the most important challenges in the clinical management of these patients is the decision on initiating their treatment, but there is no available prognostic system that will resolve this issue. Usually, criteria for active disease are used to initiate therapy. Recently, some authors have proposed prognostic models, scoring systems involving a set of clinical and biological risk factors and estimates of individual patient survivals.

Chronic lymphocytic leukemia patients with a V1-69 gene rearrangement do not have inferior survival with respect to patients that express other unmutated V(H) genes.

Recent studies indicate that V(H) gene usage in B-CLL may have prognostic impact independently of V(H) gene mutation status. The V1-69 gene is the most frequently rearranged V(H) gene in B-CLL and is almost always unmutated. We therefore investigated whether patients with a V1-69 gene rearrangement differ in clinical course and outcome with respect to patients expressing other unmutated V(H) genes.

Pentoxifylline--efficient in the treatment of venous ulcers in the absence of compression?

The aim of the study was to test the efficacy and tolerability of pentoxifylline on the healing of venous ulcers in the absence of standard limb compression. The study used a prospective randomized, open, controlled, comparative, parallel group design. The study included 80 eligible patients with confirmed venous ulcers (with clinical and photoplethysmography findings).