Tıp Fakültesi / Faculty of Medicine
Permanent URI for this collectionhttps://hdl.handle.net/11727/1403
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Item A Common Problem in Infants: Vitamin B12 Deficiency(2023) Kilci, Ceren; Olcay, Lale; 38204307Background. Nutritional vitamin B12 (VB12) deficiency is characterized by anemia, the inability to gain weight, delay or decline in development. Children of mothers with VB12 deficiency have a risk of nutritional VB12 deficiency. Prevention and early treatment are necessary to prevent irreversible neurological damage. We aimed to conduct a retrospective study to understand the characteristics of patients with VB12 deficiency.Methods. Our study included patients admitted to Baskent University Faculty of Medicine Pediatric Hematology outpatient clinic between January 2015 - February 2020 for VB12 deficiency. Their clinical and laboratory characteristics were retrospectively examined through the hospital automation system.Results. Vitamin B12 deficiency was detected in 129 of the 3198 patients; 100 of them were followed regularly. The mean age at admission of our patients was 10 +/- 12 months (1 month - 7.5 years); 98% of these children were aged 0-2 years. The mean VB12 level of our patients was 171.63 +/- 51.2 pg/ml (83 - 273), mean hemoglobin 11.2 +/- 1.37 g/dl (6.3 - 13.9), mean MCV 74.5 +/- 9.1 fl (54-106.5) and mean iron level was 54 +/- 23 mu g/dl (18 - 94). At the end of one month of loading therapy (oral or intramuscular, IM), the average VB12 level was 769 +/- 537 pg/ml (post loading). One month after the loading therapy (pre-maintenance) the average VB12 level was 426 +/- 156 pg/ml. In seven cases who received IM therapy, the loading treatment was performed for the second time. The mean VB12 level of the mothers of 85 cases was 174 +/- 127 pg/ml (134 - 650). VB12 deficiency was detected in 55% of mothers, VB12 level being between 200 - 300 pg/ml in 76%, and below 200 pg/ml in the 24%. The family members of 35% of our patients (including parents) had VB12 deficiency. Conclusions. In our country, routine screening of VB12 levels in infants is not performed; however, its early diagnosis and treatment can prevent many adverse effects mainly on the central nervous system. The fact that 98% of patients were 0-2 years old indicates that its deficiency may be quite high in the young age, and routine screening of this age group for VB12 deficiency and further studies for prophylaxis may be needed.Item Biochemical, Radiologic, Ultrastructural, and Genetic Evaluation of Iron Overload in Acute Leukemia and Iron-chelation Therapy(2014) Olcay, Lale; Hazirolan, Tuncay; Yildirmak, Yildiz; Erdemli, Esra; Terzi, Yunus Kasim; Arda, Kemal; Ozturkmen, Seda; Akyay, Arzu; Kaymak-Cihan, Meric; Bicakci, Zafer; Bal, Ceylan; https://orcid.org/0000-0001-5612-9696; https://orcid.org/0000-0002-4480-7784; 23887025; B-4372-2018; ABI-7551-2020Iron overload in hereditary hemochromatosis and hematologic malignancy has unfavorable effects on morbidity. Herein, 53 children (age 108.4 +/- 58.3 mo, 25 girls and 28 boys) with acute myeloblastic and lymphoblastic leukemia, who received 4 different chemotherapy protocols, were evaluated for iron overload throughout chemotherapy. Iron overload arose: (1) before chemotherapy, which was dependent on neither chemotherapy nor packed red blood cell transfusions and (2) after chemotherapy, which was dependent on the duration and nature of chemotherapy and partially on transfusion of packed red blood cells. Iron overload was documented in 75% of patients with a ferritin level >1000 ng/mL, by liver and heart magnetic resonance imaging, and they were administered iron-chelation therapy with success. Three of 10 radiologically iron-overloaded patients were heterozygous for H63D mutation. Aminolevulinic acid and porphobilinogen levels were normal. Light microscopic examination of the bone marrow revealed increased iron granules in erythroblasts, platelets, and megakaryocytes, iron-laden macrophages, free iron in the matrix, dyshematopoiesis, and apoptotic cells. Electron microscopic examination revealed iron-laden secondary lysosomes and autolysosomes in normoblasts and iron-laden primary granules in promyelocytes, irrelevant to the ferritin level, implying autophagia due to chemotherapy as a source of the excess iron. We think that iron overload, which is an important complication of acute leukemia, should be evaluated separately from transfusion overload, and the management principles specific to leukemia should be implemented.Item Liver Transplant in a Patient With Hemophagocytic Lymphohistiocytosis(2019) Soy, Ebru H. Ayvazoglu; Alam, Humaira; Olcay, Lale; Baris, Zeren; Yildirim, Sedat; Torgay, Adnan; Haberal, Mehmet; https://orcid.org/0000-0002-0993-9917; https://orcid.org/0000-0002-5684-0581; https://orcid.org/0000-0002-5735-4315; https://orcid.org/0000-0002-6829-3300; https://orcid.org/0000-0002-3462-7632; 30777561; AAC-5566-2019; AAK-3548-2021; AAB-4153-2020; AAF-4610-2019; AAJ-5221-2021; AAJ-8097-2021Hemophagocytic lymphohistiocytosis is a rare and life-threatening systemic disease that can cause hepatic infiltration and present as acute liver failure. Here, we report a case of a 3-year-old pediatric patient who presented with acute liver failure and hepatic encephalopathy secondary to hemophagocytic lymphohistiocytosis. She had left lateral segment liver transplant from her father. After 27 months, she had bone marrow transplant from her sister. At the time of reporting (36 months after liver transplant), she showed normal liver function and blood peripheral counts. We found that liver transplant can be a curative treatment for this type of rare disorder, not only to improve the quality of life but also to prolong survival.Item Turkish National Severe Congenital Neutropenia Registry(2016) Olcay, Lale; https://orcid.org/0000-0002-5684-0581; AAK-3548-2021Item The Impact of Iron Overload in Acute Leukemia: Chronic Inflammation, But Not the Presence of Nontransferrin Bound Iron is a Determinant of Oxidative Stress(2017) Olcay, Lale; Serteser, Mustafa; Kolay, Murat; Balci, Havva F.; Yildirim, Ulku M.; Tekgunduz, Sibel A.; Hazirolan, Tuncay; Terzi, Yunus K.; https://orcid.org/0000-0002-5684-0581; https://orcid.org/0000-0001-5612-9696; 28731917; AAK-3548-2021; B-4372-2018In the literature, studies on the oxidant effects of nontransferrin bound iron [NTBI (eLPI assay)] during chemotherapy of acute lymphoblastic leukemia and acute myeloblastic leukemia are lacking. We established NTBI and oxidative stress determinants (OSD), iron parameters, high-sensitive C-reactive protein (hs-CRP) levels, liver tests, cumulative chemotherapeutic doses, and transfused blood in 36 children with acute leukemia throughout chemotherapy. These parameters were determined at the beginning and end of chemotherapy blocks (11 time points) and in 20 healthy children using enzyme-linked immunosorbent assay, and colorimetric and fluorometric enzymatic methods. In acute lymphoblastic leukemia, NTBI, OSD, and hs-CRP were higher than controls at 4/11, 7/11, and 9/11 time points (P<0.05). At 3 time points, NTBI and OSD concurrently increased. Ferritin, soluble transferrin receptor, serum iron, and transferrin saturation were higher than in controls at 5 to 11/11 time points (P<0.05). Those with NTBI had higher iron parameters than those without NTBI (P<0.05), but showed similar OSD, hs-CRP, liver enzymes, cumulative chemotherapeutics, and transfused blood (P>0.05). OSD did not correlate with NTBI, but correlated with hs-CRP. In conclusion, NTBI is a poor predictor of OSD in acute leukemia possibly because of the heterogeneity of NTBI and chronic inflammation. Further studies are needed to delineate the pathophysiology of these diseases.Item Successful Bone Marrow Transplantation After Orthotopic Liver Transplantation in A Child With Familial Hemophagocytic Lymphohistiocytosis(2018) Aksu, Tekin; Olcay, Lale; Ozcay, Figen; Ozbek, Namik Y.; https://orcid.org/0000-0002-5684-0581; https://orcid.org/0000-0002-5214-516X; AAK-3548-2021; ABG-5684-2020Item Children with Iron Deficiency Anemia Have a Tendency to Hypercoagulation: An Evaluation by Thromboelastography(2020) Kilci, Ceren; Olcay, Lale; Ozdemir, Beril; Fettah, Ali; Colak, Meric Yavuz; 0000-0002-5684-0581; 0000-0002-0294-6874; 31852173; AAK-3548-2021; AAA-4360-2021Item Type 3 Gaucher disease presented with cardiac manifestations(2019) Gumus, Ersin; Tokel, Kursad; Karhan, Asuman Nur; Demir, Hulya; Ozen, Hasan; Temizel, Inci Nur Saltik; Olcay, Lale; Yuce, Aysel; 0000-0002-6759-1795; AAF-3253-2021Item Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry(2019) Olcay, Lale; 31321910Background Severe congenital neutropenia is a rare disease, and autosomal dominantly inherited ELANE mutation is the most frequently observed genetic defect in the registries from North America and Western Europe. However, in eastern countries where consanguineous marriages are common, autosomal recessive forms might be more frequent. Method Two hundred and sixteen patients with severe congenital neutropenia from 28 different pediatric centers in Turkey were registered. Results The most frequently observed mutation was HAX1 mutation (n = 78, 36.1%). A heterozygous ELANE mutation was detected in 29 patients (13.4%) in our cohort. Biallelic mutations of G6PC3 (n = 9, 4.3%), CSF3R (n = 6, 2.9%), and JAGN1 (n = 2, 1%) were also observed. Granulocyte colony-stimulating factor treatment was given to 174 patients (80.6%). Two patients died with infectious complications, and five patients developed myelodysplastic syndrome/acute myeloblastic leukemia. The mean (+/- mean standard error) follow-up period was 129.7 +/- 76.3 months, and overall survival was 96.8% (CI, 94.4-99.1%) at the age of 15 years. In Turkey, severe congenital neutropenia mostly resulted from the p W44X mutation in the HAX1 gene. Conclusion In Turkey, mutation analysis should be started with HAX1, and if this is negative, ELANE and G6PC3 should be checked. Because of the very high percentage of consanguineous marriage, rare mutations should be tested in patients with a negative mutation screen.Item Hemolytic anemia caused by non-D minor blood incompatibilities in a newborn(2019) Tugcu, Ali Ulas; Ince, Deniz Anuk; Turan, Ozden; Belen, Burcu; Olcay, Lale; Ecevit, Ayse; 31692740Hyperbilirubinemia is one of the most widely seen cause of neonatal morbidity. Besides ABO and Rh isoimmunization, minor blood incompatibilities have been also been identified as the other causes of severe newborn jaundice. We report a newborn with indirect hyperbilirubinemia caused by minor blood group incompatibilities (P1, M, N, s and Duffy) whose hemolysis was successfully managed with intravenous immunoglobulin therapy. A thirty-two gestational weeks of preterm male baby became severely icteric on postnatal day 11, with a total bilirubin level of 14.66 mg/dl. Antibody screening tests revealed incompatibility on different minor groups (P1, M, N, s and Duffy (Fya ve Fyb)). On postnatal day thirteen, the level of bilirubin increased to 20.66 mg/dl although baby was under intensive phototherapy. After the administration of intravenous immunoglobulin and red blood cell transfusion, hemoglobin and total bilirubin levels became stabilised. Minor blood incompatibilities should be kept in mind during differential diagnosis of hemolytic anemia of the newborn. They share the same treatment algorithm with the other types hemolytic anemia. New studies revealed that intravenous immunoglobulin treatment in hemolytic anemia have some attractive and glamorous results. It should be seriously taken into consideration for treatment of minor blood incompatibilities.