Browsing by Author "Ivanovski, Petar I. (15127137000)"

Juvenile myasthenia gravis is an acquired, autoimmune disease occurring before age 16 years. Thymoma is exceedingly rare in children, especially in association with juvenile myasthenia gravis. We describe a 14-year-old boy with juvenile myasthenia gravis and thymoma. He presented with difficulties chewing and swallowing, nasal speech, and fluctuating weakness of the leg muscles. Neurologic examination revealed masticatory and bulbar muscle weakness with nasal speech, proximal muscle weakness, fatigability of the arms and legs, and distal muscle weakness of the legs. A diagnosis of juvenile myasthenia gravis was confirmed by a positive neostigmine test, a decremental response on repetitive nerve stimulation, and increased titers of serum anti-acetylcholine receptor antibodies. The patient received anticholinesterases, corticosteroids, azathioprine, and thymectomy. A pathohistologic analysis of the thymus gland indicated thymoma, Masaoka grade II. After 2 years of an unstable disease course, remission was achieved. Because only 10 cases of thymoma-associated myasthenia gravis are described in the pediatric population, this report offers an important contribution to a better understanding of this rare association. © 2012 Elsevier Inc. All rights reserved.

Juvenile myasthenia gravis is an acquired, autoimmune disease occurring before age 16 years. Thymoma is exceedingly rare in children, especially in association with juvenile myasthenia gravis. We describe a 14-year-old boy with juvenile myasthenia gravis and thymoma. He presented with difficulties chewing and swallowing, nasal speech, and fluctuating weakness of the leg muscles. Neurologic examination revealed masticatory and bulbar muscle weakness with nasal speech, proximal muscle weakness, fatigability of the arms and legs, and distal muscle weakness of the legs. A diagnosis of juvenile myasthenia gravis was confirmed by a positive neostigmine test, a decremental response on repetitive nerve stimulation, and increased titers of serum anti-acetylcholine receptor antibodies. The patient received anticholinesterases, corticosteroids, azathioprine, and thymectomy. A pathohistologic analysis of the thymus gland indicated thymoma, Masaoka grade II. After 2 years of an unstable disease course, remission was achieved. Because only 10 cases of thymoma-associated myasthenia gravis are described in the pediatric population, this report offers an important contribution to a better understanding of this rare association. © 2012 Elsevier Inc. All rights reserved.

Introduction: Fetal macrosomia in gestational diabetes mellitus is contributed to by compensatory fetal mechanisms responding to alterations in maternal metabolism. Objectives: To compare FFA and blood glucose concentrations of newborns derived from healthy and hyperglycemic mothers. Methods: Prospective study included two equal groups of term newborns (50) from GDM and healthy mothers. Blood was derived from umbilical and cubital vein of mothers immediately after birth. Results: The mean FFA concentration of mothers did not differ whereas in infants of GDM mothers FFA were significantly lower. A significant correlation was found between FFA levels of healthy mothers and their newborns (p < 0.05). No such correlation was found in GDM group (p > 0.05). A significant correlation was found between mother's and newborn's glycemia (p < 0.05) in both groups. Conclusion: Suppression of FFA acids in newborn blood of mothers with GDM may represent the lipogenic and antilipolytic activity of the fetus. © 2017 Taylor & Francis Group, LLC.

Introduction: In hypoxic newborns requiring oxygen, lipid peroxidation affects the peripheral blood lipids. Objectives: Determine the influence of perinatal oxygen therapy for hypoxia on serum lipid concentrations on the second day of life. Materials and Methods: Our study included 50 newborns with perinatal hypoxia requiring oxygen and 50 healthy newborns without oxygen therapy. Arterialized capillary blood was taken for categorization of hypoxia (pO2) after birth in both groups. Lipid concentrations: total cholesterol (TC), high density lipoproteins (HDL), low density lipoproteins (LDL), and triglycerides (TG) were measured on day 2 in both groups. Results: TC, LDL, HDL, TG, HC03 levels were statistically lower in the study group compared to the control one, while pCO2 and BE levels were statistically higher in newborns with perinatal hypoxia. Conclusion: Lower lipid levels in hypoxic newborns may suggest that circulating lipids are oxidized, peroxidized, and removed from the peripheral circulation. © 2017 Taylor & Francis Group, LLC.

TEL-AML1 (ETV6-RUNX1) fusion gene which is formed prenatally in 1% of the newborns, is a common genetic abnormality in childhood Bcell precursor acute lymphoblastic leukemia. But only one child out of a hundred children born with this fusion gene develops leukemia (bottleneck phenomenon) later in its life, if contracts the second mutation. In other words, out of a hundred children born with TEL-AML1 only one child is at risk for leukemia development, which means that TEL-AML1 fusion gene is not sufficient for overt leukemia. There is a stringent requirement for a second genetic abnormality for leukemia development and this is the real or the ultimate cause of the leukemia bottleneck phenomenon. In most cases of TEL-AML1+ leukemia, the translocation t(12;21) is complemented with the loss of the normal TEL gene, not involved in the translocation, on the contralateral 12p. The loss of the normal TEL gene, i.e. loss of heterozygosity at 12p, occurs postnatally during the mitotic proliferation of TEL-AML1+ cell in the mitotic crossing over process. Mitotic crossing over is a very rare event with a frequency rate of 10-6 in a 10 kb region. The exploration and identification of the environmental exposure(s) that cause(s) proliferation of the TELAML1+ cell in which approximately 106 mitoses are generated to cause 12p loss of heterozygosity, i.e. TEL gene deletion, may contribute to the introduction of preventive measures for leukemia. © I. Ivanovski et al., 2015.

Background/Aim. West syndrome (WS) is an epileptic encephalopathy which is characterized by the trias: infantile spasms, psychomotor delay and specific electroencephalography (EEG) pattern. The aim of this study was to determine the prognostic value of EEG in the therapy of West syndrome. Methods. This study group comprised 68 patients (40 boys and 28 girls) with the diagnosis of WS. Criteria for inclusion of patients in this study were the disease onset in the first or the second year of life, specific seizure type and a characteristic EEG pattern. All patients were divided into 2 groups: symptomatic (37 patients) and cryptogenic (31 patients) WS. The outcome was assessed through the response to the therapy (seizure control and EEG findings). Follow-up was at 3, 6, 12 and 24 months after the diagnosis was established. Results. Three months after starting the treatment 80.6% of patients with improved EEG were seizure free (p < 0.01); 85.7% of patients with EEG improvement at 3 months check-up were seizure free after 6 months (p < 0.01); 82.8% of patients with better EEG findings after 3 months had no seizures after 12 months (p < 0.05). Also, the majority of patients with improvement in EEG at 6 month follow-up (95.8%) had no seizures at one year follow-up (p < 0.01). The presence of seizures during this period did not depend on EEG after 6 months of treatment (p > 0.05). Most of the patients with improved (89.7%) and unchanged (70.6%) EEG after 12 months had no seizures after two years, whereas the patients with worsened EEG were with seizures. Conclusion. Seizure control after 6, 12 and 24 months depended on EEG finding at 3 months follow up. Seizure control after 12 months correlated with EEG after 6 months. The correlation between EEG after 12 months and seizure control after 24 months was not clear. EEG at 6 months follow-up did not affect seizure control after 2 years. © 2018, Inst. Sci. inf., Univ. Defence in Belgrade. All rights reserved.