Now showing 1 - 10 of 11
  • Some of the metrics are blocked by your 
    Item type:Publication,
  • Some of the metrics are blocked by your 
    Item type:Publication,
    Procalcitonin-early biochemical marker for diagnosis, prognosis and treatment of sepsis in neonates and oncological patients with febile neutropenia
    (Macedonian Association of Anatomists, 2020)
    ;
    Tankoska Maja
    ;
    ;
    ;
    Kimovska Hristova, Mica
    Pediatric sepsis is a life - threatening condition, in which the immune system, instead of controlling the infection,causes damage to tissues and organs. The aim of this study was to determine the role of procalcitonin (PCT)in the early diagnosis of sepsis in high - risk infants and Oncological patients with febrile neutropenia,its prognostic value,and the role of PCT in the cho ice of antibiotic. The study is designed as retrospective - prospective, it is being worked at the PHI UC for Children Diseases Skopje. I t includes 60 critical newborns and 40 O ncology patients.The examined group were divided into two subgroups:30 critical i nfants with bacterial sepsis in the intensive care unit and 20 O ncological patients with sepsis and febrile neutropenia. PCT was determined the first 24h,3 - 5 days and 6 - 14 days of hospitalization. The value of PCT during the first 24 hours of admission was increased in all 50 patients .Most of them had signs of severe sepsis and few od them had signs of septic shock . In all of them, double parenteral antibiotic therapy was started .Seven patients has died in the first five days. After 3 - 5 days of the start of antibiotic therapy, PC T values decreased . After the third measurement, PCT values continued to decrease and in majority of the patients the antibiotic therapy was discontinued. By measuring the values of PCT, an early diagnosis of sepsis can be made. This is important to start with antibiotics to prevent sepsis and septic shock . T he dynamic in the values of PCT determine the duration of antibiotic,its modification,the rational uses of antibiotics and the emergence of resistance to it.
  • Some of the metrics are blocked by your 
    Item type:Publication,
    T-lymphoblastic leukemia/lymphoma in macedonian patients with Nijmegen breakage syndrome
    (Walter de Gruyter GmbH, 2016-07-01)
    ;
    ;
    Antevska-Trajkova, Z
    ;
    Coneska-Jovanova, B
    ;
    Nijmegen breakage syndrome (NBS) is a rare autosomal recessive chromosomal instability disorder characterized by microcephaly, immunodeficiency, radiosensitivity and a very high predisposition to malignancy. The gene responsible for the disease, NBS1, is located on chromosome 8q21 and encodes a protein called nibrin. After identification of the gene, a truncating 5 bp deletion, 657-661delACAAA, was identified as the disease-causing mutation in patients with the NBS. In this report, we describe two patients with NBS and T-lymphoblastic leukemia/lymphoma in a Macedonian family. To the best of our knowledge, this is the first family with NBS reported from Macedonia. Both children presented with microcephaly, syndactyly and the development of T cell lymphoblastic lekemia/lymphoma at the age of 7 and 10 years, respectively. The molecular analysis of NBS1 genes in our patients showed homozygosity for the 657del5 mutation in the NBS1 gene. The parents were heterozygotes for the 657del5 mutation and they had no knowledge of a consanguineous relationship. The first child was treated with the International Berlin-Frankfurt-Münster (BFM)-Non Hodgkin lymphoma (NHL) protocol and achieved a complete remission that lasted for 21 months. Subsequently, he developed a medullar relapse with hyperleukocytosis and died due to lethal central nervous system (CNS) complications. The second child was treated according to the International Collaborative Treatment Protocol for Children and Adolescents with Acute Lymphoblastic Leukemia 2009 (AIOP-BFM ALL 2009) protocol. Unfortunately, remission was not achieved.
  • Some of the metrics are blocked by your 
    Item type:Publication,
    First Cases of Hb Agrinio Described in Patients from the Republic of Macedonia
    (Taylor & Francis Online, 2017-12-08)
    Dimishkovska Marija,
    ;
    Kuzmanovska Maja
    ;
    ;
    ;
    Previous molecular analyses of α-thalassemia (α-thal) in the Republic of Macedonia have identified the following genetic defects: –α3.7 (rightward), –(α)20.5 and – –MED I deletions and Hb Icaria [α142, Term→Lys (α2), HBA2: c.427T>A] and polyadenylation signal (polyA) [AATAAA>AATGAA (α2), HBA2: c.*92A>G] point mutations. Here, we report two unrelated patients from the Romani population in the Republic of Macedonia, homozygotes for the α2-globin gene variant Hb Agrinio [α29(B10)Leu→Pro; HBA2: c.89T>C]. To date, Hb Agrinio has been described only in individuals of Greek, Cypriot and Spanish origin. Both of our patients had early presentation of the disease (3.5 years and 2 months, respectively) with frequent blood transfusions from early infancy. They have a severe intermediate phenotype of thalassemia (Hb H disease) with hemoglobin (Hb) levels of 7.8 and 7.7 g/dL, respectively. Although the HBA2: c.89T>C mutation results in an α+ allele, the severe phenotype of the homozygotes is due to the production of hyperunstable α chains that undergo post translational precipitation. This leads to a greater degree of red cell damage and hemolytic anemia. The detection of Hb Agrinio in two unrelated families of Romani ethnic origin, may suggest it is a founder mutation in this population living in the Republic of Macedonia. Considering the severity of the clinical presentation of the homozygotes or compound heterozygotes for this rare Hb variant, a targeted molecular screening for Hb Agrinio mutation carriers should be considered in all patients of Romani ethnic origin with manifested microcytosis.
  • Some of the metrics are blocked by your 
    Item type:Publication,
    Chelation therapy in thalassemia major: Why and when
    (Medical Faculty, Ss. Cyril and Methodius University in Skopje, 2015)
    ;
    ;
    Conevska-Jovanova Biljana
    ;
    Acevska-Jovanovska Aleksandra
    ;
  • Some of the metrics are blocked by your 
    Item type:Publication,
    Clinical characteristics and threatment resulats of childhood acute lymphoblasic leukemia in North Macedonia
    (Macedonian Academy of Sciences and Arts / Sciendo, 2020)
    Aleksandra Jovanovska
    ;
    Trajkova-Antevska Zorica
    ;
    ;
    ;
  • Some of the metrics are blocked by your 
    Item type:Publication,
    A Novel Approach for Modelling the Relationship between Blood Pressure and ECG by using Time-series Feature Extraction
    (SCITEPRESS - Science and Technology Publications, 2020)
    Kochev, Stefan
    ;
    Stevchev, Neven
    ;
    ;
    Eftimov, Tome
    ;
  • Some of the metrics are blocked by your 
    Item type:Publication,
    Demographic, Clinical and Biochemical Characteristics of Pediatric Obesity: Interim Analysis of a Larger Prospective Study
    (Medical University of Plovdiv, 2020-12)
    Tankoska Maja
    ;
    ;
    Stamatova Ana
    ;
    Murtezani Avni
    ;
    Maneva Elita
    Introduction: Pediatric obesity is a common nutritional disorder that affects more than a third of the young population and predisposes individuals to greater future morbidity and mortality. Materials and methods: Sixty-two children were recruited in the study. Demographic and clinical information regarding the patients and their parents was collected. Data about the weight, height, systolic (SP) and diastolic (DP) blood pressure, lipid metabolic profile, thyroid hormone levels, glucose and insulin levels before and after oral glucose tolerance test (OGTT) of participants were also collected. Body mass index (BMI) was calculated and patients were classified into groups according to the International Obesity Task Force criteria. Descriptive, comparative parametric, non-parametric tests and Spearman’s ranked correlations were used in the statistical analysis. Results: The study sample consisted of 34 males and 28 females aged 11.6 and 11.8 years, respectively (p=0.781). The mean BMI was 30.5 (SD 5.5): 8 of participant had normal weight (≤25 BMI), 22 were overweight (25-30 BMI), and 32 were obese (≥30 BMI). The children’s BMIs were significantly associated with parental BMIs (r=0.395, p=0.004). Both SP and DP were significantly different between BMI subgroups (p=0.005 and p=0.001, respectively) with the obese group having the highest values (post-hoc Benjamini, p=0.004). Obese children had lower average T4 levels when compared to the comparators (7.5 μg/dL vs. 9.9 μg/dL, p=0.021). Obese children had significantly lower baseline glucose levels and higher insulin levels when compared to the overweight/normal BMI children (73.8 mg/ dL vs. 86.4 mg/dL, p<0.001 and 21.8 μgU/mL vs. 132 μgU/mL, p=0.003). Obese children had the greatest numerical increase in glucose levels during the OGTT (Δ63.0 mg/dL vs. Δ43.2 mg/dL, p=0.063) and numerically smaller absolute insulin response (Δ86.1 μIU/mL vs. Δ125.7 μIU/mL, p=0.307). Conclusions: Pediatric patients demonstrate familial type of obesity and premorbid asymptomatic endocrine impairments. In order to maintain normal glucose levels, obese pediatric patients demonstrate high levels of resting insulin levels and diminished response after OGTT load
  • Some of the metrics are blocked by your 
    Item type:Publication,
    Pediatric in situ lymphoma and Castleman disease – possibility for progression or presence of synchronous diseases
    (EUROPEAN ASSOCIATION FOR HAEMATOPATHOLOGY, 2024-09)
    ;
    ;
    Jovanovska, Aleksandra
    A child, 7.5 years old with a history of previously diagnosed Pediatric In Situ Folicullar Lymphoma, treated by ‘watch and wait’ strategy has been admitted at the Pediatric University Clinic, Skopje, in February 2023. In June 2022, due to worsened generalised lymphadenopathy (No.1206640) and symptoms of anaemia, thrombocytopenia and slight splenomegaly, new lymph node biopsy has been done.. The obtained diagnosis was Atypical Lymphoid Hyperplasia. In February 2023, the child was again admitted to the hospital with signs of coughing and dyspnea. On physical examination there were found increased cervical lymph nodes and metabolic disease in the mediastinal and abdominal lymph nodes as well as in the spleen and lung parenchyma.
  • Some of the metrics are blocked by your 
    Item type:Publication,
    Autoimmune lymphoproliferative syndrome identified through reverse phenotyping.
    (Cent Eur J Immunol 2022; 47 (2): 179-182, 2022-07-15)
    ;
    Gjorgjievska M
    ;
    Vujovic M
    ;
    ;
    Antevska-Trajkova Z
    Autoimmune lymphoproliferative syndrome (ALPS) is a chronic non-malignant lymphoproliferative disorder caused by mutations in the genes involved in programmed cell death. It is inherited as an autosomal dominant pattern with variable penetrance. In this paper we present the first report of a Macedonian family with ALPS, caused by a novel heterozygous variant in the FAS gene. The next generation sequencing (NGS) analysis in a patient with splenomegaly, suspected for hereditary spherocytosis, showed presence of the FAS c.913dupA, p.Thr305AsnfsTer16 variant. The same variant was present in the patient’s mother, but not in the mother’s parents (proband’s grandparents). Thus, the pathogenic FAS variant has arisen as a de novo event in the proband’s mother. Later, analysis of the newborn affected sister showed presence of the same FAS variant. Additional clinical and laboratory investigations in the proband and her sister confirmed the presence of specific biomarkers for ALPS. A first-line NGS analysis allows identification of the genetic defect and initiation of appropriate clinical examinations to promptly establish the clinical diagnosis in patients with rare diseases. Reverse phenotyping in our case provided a prompt and accurate diagnosis and early initiation of specific therapy.