Objectives: In congenital hemolytic anemias (CHA), it is not always possible to determine the spe... more Objectives: In congenital hemolytic anemias (CHA), it is not always possible to determine the specific diagnosis by evaluating clinical findings and conventional laboratory tests. The aim of this study is to evaluate the utility of next-generation sequencing (NGS) and clinical-exome-based copy number variant (CNV) analysis in patients with CHA. Methods: One hundred and forty-three CHA cases from 115 unrelated families referred for molecular analysis were enrolled in the study. Molecular analysis was performed using two different clinical exome panels in 130 patients, and wholeexome sequencing in nine patients. Exome-based CNV calling was incorporated into the traditional single-nucleotide variant and small insertion/deletion analysis pipeline for NGS data in 92 cases. In four patients from the same family, the PK Gypsy variant was investigated using long-range polymerase chain reaction. Results: Molecular diagnosis was established in 86% of the study group. The most frequently mutated genes were SPTB (31.7%) and PKLR (28.5%). CNV analysis of 92 cases revealed that three patients had different sizes of large deletions in the SPTB and six patients had a deletion in the PKLR. Conclusions: In this study, NGS provided a high molecular diagnostic rate in cases with rare CHA. Analysis of the CNVs contributed to the diagnostic success.
Aim: The aim of the study was to evaluate patients who were followed up with lymphadenopathy and ... more Aim: The aim of the study was to evaluate patients who were followed up with lymphadenopathy and underwent biopsy in
Total body irradiation is an important part of the pre-HSCT preparation regimen. In treatments ap... more Total body irradiation is an important part of the pre-HSCT preparation regimen. In treatments applied in combination with radiotherapy and chemotherapy, survival is long-term, especially in pediatric cases. So, increasing the quality of life of patients is as important as the success of the treatment. Today, the general approach is the application of the TBI with conventional radiotherapy devices.In the TBI applications, it is recommended to use in-vivo dosimeters to measure, quantify, control and monitor the dose homogeneity applied to the patient.In this study, we evaluated the importance of inter-fraction dose tracking for bilateral TBI irradiations, which is the most commonly used, simple and feasible method.Measurements were made with MOSFET for brain, neck, lung, umbilicus and pelvis regions in each fraction during the entire treatment, to prevent inter-fractional variations. The midline dose was calculated from the MOSFET skin doses and then interpreted. Dosage tracking within fractions allows the revision of the dosimetric errors that may occur between the fractions, and prevents the transfer of the possible error to the next fraction. Thus, it is aimed to minimize the possible side effects of the treatment and to reach the maximum targeted dose that will prevent recurrence and/or graft failure.
Journal of Pediatric Hematology Oncology, May 15, 2023
Introduction: Propranolol, a nonselective beta-blocker used in the medical treatment of infantile... more Introduction: Propranolol, a nonselective beta-blocker used in the medical treatment of infantile Hemangioma (IH), has been shown to decrease the levels of vascular endothelial growth factor and reduce angiogenesis with its antiproliferative and antiangiogenetic effects. Materials and Methods: It has been reported that the storage, transport, and secretion of vascular endothelial growth factor (VEGF) are associated with platelet volume indices (PVI). We aimed to investigate the effect of propranolol on PVI in IH patients. Propranolol treatment was started on 22 IH patients. Platelets, mean platelet volume (MPV), platelet distribution width (PDW), and plateletcrit values in the follow-ups at months 0, 1, and 2 were compared between 22 patients who received treatment and 25 patients who did not. Results: While a statistically significant difference between months 0, 1, and 2 in PDW and MPV values was detected in the treated group, it was not detected in the untreated group. Taking into consideration that VEGF levels were higher at the beginning of the treatment in the pathophysiology of the disease, it was thought that the decrease in VEGF levels by propranolol may have led to a decrease in MPV and PDW levels in the treatment group. Conclusion: Consequently, in IH cases, propranolol response follow-up can be evaluated with PVIs, especially MPV and PDW, and it may facilitate clinicians’ monitoring of the disease after propranolol administration.
OLGU SUNUMU ÖZET Nijmegen kırık sendromu, nadir görülen otozomal resesif geçişli genetik bir hast... more OLGU SUNUMU ÖZET Nijmegen kırık sendromu, nadir görülen otozomal resesif geçişli genetik bir hastalıktır. Kromozomal instabilite sendromları olarak adlandırılan bir grup hastalık içinde yer alır. Klinik olarak mikrosefali, "kuş yüzü" olarak da adlandırılan yüz görünümü, büyüme geriliği, immün yetmezlik, iyonizan radyasyon ile alkilleyici ajanlara artmış kromozomal hassasiyet ve özellikle lenfoid malignitelere yatkınlık ile karakterizedir. 8q21 bandında lokalize NBS1 genindeki mutasyonlar Nijmegen kırık sendromundan sorumludur. Bu yazıda, Fanconi anemisi ön tanısı ile merkezimize gönderilen ve burada Nijmegen kırık sendromu tanısı alan bir olgu, tüm dünyada çok seyrek görülmesi nedeniyle ve Fanconi anemisi ile benzer klinik ve biyolojik özelliklere sahip olduğundan ayırıcı tanıda dikkatli olunmasının gerekliliğini vurgulamak amacıyla sunulmuştur.
Background: Inflammation and coagulation are closely linked events. Thrombin is the key enzyme in... more Background: Inflammation and coagulation are closely linked events. Thrombin is the key enzyme in coagulation system and also has roles in inflammation. Objective: The aim of our study was to evaluate thrombin generation in children with mild asthma. Methods: Forty-two children with mild asthma and 49 healthy children were included in the study. All patients performed spirometry. Thrombin generation tests (TGT) were performed with a calibrated automated thrombogram (CAT) in children without asthma exacerbation during the last six months. During CAT assay thrombogram curves were obtained. The area under the curve showed endogenous thrombin potentials and indicated the total amount of endogenous thrombin generated; the peak height showed the highest thrombin value, thrombin lag time and time to thrombin peak were measured. Results: Thrombin lag time was significantly longer in children with asthma (3.98 ± 1.2 min) compared to those in the control group (3.29 ± 0.6 min) (p < 0.01). Children with asthma also had longer thrombin tail time compared to the control group (19.5 ± 8.9 min vs. 16.7 ± 2.9 min, p = 0.02). Thrombin peak was inversely correlated with FEF 25-75 (r = −0.41, p < 0.01). Thrombin lag time was inversely correlated with FEF 25-75 (r = −0.39, p < 0.01). Conclusion: Inflammation in mild asthma seems to disturb coagulation but this disturbance may not be so strong as to increase thrombin levels and may only affect the initiation phase of thrombin generation.
OLGU SUNUMU ÖZET Diyafragma paralizisi, yenidoğan bebeklerde genellikle doğum travmasına bağlı ol... more OLGU SUNUMU ÖZET Diyafragma paralizisi, yenidoğan bebeklerde genellikle doğum travmasına bağlı olarak frenik sinir zedelenmesi sonucunda ortaya çıkmaktadır. Etkilenen bebeklerin büyük çoğunluğunda solunum sıkıntısı, diyafragma elevasyonu ve tutulan tarafta paradoksal solunum hareketleri görülür. Asemptomatik diyafragma evantrasyonunda tedavi konservatifken, semptomatik diyafragma evantrasyonu konjenital olsun veya olmasın cerrahi tedavi ile düzeltilmelidir. Burada mekonyumla boyalı olarak ve sağ kolda brakiyal pleksus zedelenmesi ile doğan ve aynı taraftaki diyafragma paralizisine bağlı solunum sıkıntısı gelişen bir yenidoğan sunulmuş ve tartışılmıştır.
Preimplantation genetic diagnosis involves the diagnosis of a genetic disorder in embryos obtaine... more Preimplantation genetic diagnosis involves the diagnosis of a genetic disorder in embryos obtained through in vitro fertilization, selection of healthy embryos, and transfer of the embryos to the mother's uterus. Preimplantation genetic diagnosis has been used not only to avoid the risk of having an affected child, but it also offers, using HLA matching, preselection of potential HLA-genoidentical healthy donor progeny for an affected sibling who requires bone marrow transplantation. Here, we share the hematopoietic stem cell transplantation results of 52 patients with different benign and malign hematological or metabolic diseases or immunodeficiencies whose donors were siblings born with this technique in Turkey since 2008. The median age of the patients' at the time of the transplantation was 8 years (range, 3 to 16 years) and the median age of the donors was 2 years (range, .5 to 6 years). The most common indication for HSCT was thalassemia major (42 of all patients, 80%). The stem cell source in all of the transplantations was bone marrow. In 37 of the transplantations, umbilical cord blood of the same donor was also used. In 50 of the 52 patients, full engraftment was achieved with a mean of 4.6 × 10 6 CD 34 + cells per kg of recipient weight. Ninety-six percent of the patients have been cured through hematopoietic stem cell transplantation without any complication. Primary engraftment failure was seen in only 2 patients with thalassemia major. All of the donors and the patients are alive with good health status. Preimplantation genetic diagnosis with HLA matching offers a life-saving chance for patients who need transplantation but lack an HLA genoidentical donor.
Objectives: Iron is taken into enterocytes at the duodenum via apical divalent metal-ion transpor... more Objectives: Iron is taken into enterocytes at the duodenum via apical divalent metal-ion transporter 1 protein. Besides iron, divalent metal-ion transporter 1 also transports other divalent metals. We aimed to investigate blood heavy metal levels in patients with ineffective erythropoiesis. Methods: Blood levels of heavy metals including Pb, Al, Cd, Cr, Co, Cu, and Zn were measured in patients with thalassemia major (TM), thalassemia intermedia (TI), congenital dyserythropoietic anemia (CDA), and age-and sex-matched healthy controls. Results: Blood samples were obtained from 68 patients (51 patients with TM, 8 with TI, 9 with CDA), and a control group that included 65 volunteers. Patients with TM were found to have lower Al, Pb, and Zn, and higher Cd levels compared with the control group. The patients treated with deferasirox were further analyzed and Pb and Zn levels were found lower compared with the control group. Discussion: Patients with TM had tendency to have elevated levels of plasma cadmium; however, the median level was not at a toxic level. Increased metal-ion transporter 1 activity may cause heavy metal accumulation, but deferasirox chelation may be protective against heavy metals besides iron.
Aim: In disorders with ineffective erythropoiesis like thalassemia major (TM) iron absorption fro... more Aim: In disorders with ineffective erythropoiesis like thalassemia major (TM) iron absorption from gastrointestinal tract increases regardless of iron store. Iron is taken into enterocytes at duodenum via apical divalent metallo protein 1 (DMT-1) protein. Besides iron DMT-1 also transports other divalent metals like cadmium (Cd) , cobalt (Co), copper (Cu), lead (Pb), manganese, nickel, and zinc (Zn). In our study we hypothesized that absorption of heavy metals via DMT-1 protein may be elevated in particularly TM and other disorders with ineffective erythropoiesis, and we aimed to investigate blood heavy metal levels in these patients and compare with control group. Methods: Study was performed between December 2014 and April 2015 in Hacettepe University Children Hospital Pediatric Hematology Clinic and Gulhane Military Medical Academy Pediatric Hematology Clinic. Blood samples were taken from patients with TM, thalassemia intermedia (TI), congenital dyserythropoietic anemia (CDA), and age and sex matched healthy control group. Heavy metal exposure was searched via questionnaire for each participant. Serum heavy metals including aluminium (Al), Cd, Co, crom (Cr), Cu, Pb, selenyum (Se), and Zn were measured. Results: Blood samples were obtained from 51 patients with TM, 8 with TI, 9 with CDA, and control group included 65 healthy volunteers. General characteristics of patients and control group were showed on Table 1. There wasn&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;t statistical difference between patients and control group in terms of age and heavy metal exposure. Plasma or serum heavy metal levels of patients and control group were shown in Table 2. Patients with TM were found to have lower Al, Pb, Se, and Zn, and higher Cd levels compared to control group. In patients with TM, Cd level was higher than control group, however median value of Cd was still in normal range. In TI group only Se level was lower (p; 0.003), in CDA group both Se (p; 0.008) and Zn (p; 0.02) levels were lower compared to control group. When we looked for patients with TM, TI, and CDA who were treated with deferasirox; Al, Pb, Se, and Zn levels were lower, and Cd level was higher than control group. Discussion: Opposite to our hypothesis Al, Pb, Se. and Zn levels were lower in TM group and in group of patients who were on deferasirox. Se and Zn levels in patients with TM have been studied before but contradictory results have been reported. Generally they were reported to be lower in patients with TM. These results have been explained with micronutrient deficiency, and chelator treatment. Deferasirox has been reported to bind to Al and Zn, as well. The lower Al and Zn levels in our study may be explained with deferasirox therapy. Deferasirox may also have capacity to bind Pb, related to the lower levels found in our study in deferasirox group. In addition to iron chelation, chelator treatment with deferasirox might have protective effects in patients with ineffective erythtopoiesis against heavy metal toxicity. Table 1. General characteristics of patient and control groups TM TI CDA Control Number 51 8 9 65 Age* (year) 20.2 (4.5-39) 8.8 (3.4-37) 9 (2.5-14.6) 16.8 (3-39) Male/female 23/28 3/5 6/3 33/32 Heavy metal exposure YesNo 2130 62 81 3134 Chelator usage NoDeferasiroxDeferoxamineDeferoxamine+ deferriprone 04641 2600 4500 TM: thalassemia major, TI: thalassemia intermedia, CDA: congenital dyserythropoietic anemia *Median and range Table 2. Heavy metal levels in patient and control groups TM TI CDA Control pa Aluminium (mcg/L) (0-50) 27.,6 (10.1-82.1)* 50.1 (18.2-91.3) 41.1 (11.3-48.5) 43.8 (2.4-175.6) 0.01 Copper (mcg/dL) (70-150) 71.7 (22.3-175.5) 90.5 (27.9-165.2) 59.9 (35.1-110.3) 78.5 (20.5-189) 0.1 Zinc (mcg/dL) (70-120) 56 (21.8-126.2) 63.8 (34.4-130.2) 59.3 (23.6-76.9) 70.8 (36-166.8) 0.001 Cadmium (mcg/L) (0.3-1.2) 0.75 (0.34-2.82) 0.77 (0.36-1.37) 0.59 (0.38-0.78) 0.58 (0.23-3.54) 0.002 Cobalt (mcg/L) (0.5-3.9) 0 (0-6.73) 0.19 (0-1.94) 0.08 (0-2.49) 0.39 (0-6.59) 0.23 Crom (mcg/L) (2.8-45) 45.08 (39.4-63.8) 45.1 (41.7-47.5) 45.7 (35.5-53.7) 46.9 (28.5-96.1) 0.49 Lead (mcg/L) (0-150) 3.83 (0-22.7) 6.71 (0-11.1) 5.18 (0-16.3) 9.31 (0-45.2)…
Objectives: Beta-thalassemia major is associated with the increased risk of cardiovascular morbid... more Objectives: Beta-thalassemia major is associated with the increased risk of cardiovascular morbidity and mortality. Asymmetric dimethylarginine (ADMA) has been implicated in the pathogenesis of endothelial dysfunction and atherosclerosis. In this study, we aimed to investigate circulating ADMA concentrations in children with beta-thalassemia major. Methods: Thirty-one beta-thalassemia major children aged between 4 and 16 year old and age, gender-matched 36 healthy controls were enrolled in the study. Plasma ADMA was measured along with the soluble vascular cell adhesion molecule-1 (sVCAM-1), soluble intercellular adhesion molecule-1 (sICAM-1), P-selectin, and Pentraxin-3. Results: Age, gender and body mass index were similar in two groups. Plasma ADMA, sVCAM-1, and sICAM-1 measurements were significantly higher in beta-thalassemia major patients than the control group (p < 0.004 for ICAM-1, p < 0.001 for other parameters). There were positive significant correlations between ADMA, sVCAM-1 and sICAM-1 (r = 0.437, p < 0.001; r = 0.544, p < 0.001; r = 0.405, p < 0.001, respectively) in the whole group. Discussion: The findings of the current study show us that increased plasma ADMA levels in children with beta-thalassemia major may be an early marker for endothelial dysfunction and may play a role in the development of premature atherosclerosis in beta-thalassemia major patients.
Çukurova Üniversitesi Tıp Fakültesi dergisi, Nov 3, 2015
Labial adhesion is a disease which occurs after complete or partial fusion of labium majors and /... more Labial adhesion is a disease which occurs after complete or partial fusion of labium majors and / or minors. It usually originates at the posterior fourchette and sometimes progresses towards urethral opening and clitoris. Incidence of labial adhesion is most frequent in prepubescent girls with a peak incidence at the age of 13-23 months. The factors that cause labial adhesion remain unknown. Vaginal irritation or inflammation process with underlying hypoestrogenism can cause this disease.We present a case who developed labial adhesion due to ovarian failure after hematopoietic stem cell transplantation.
Anemi, dünya çapında yaygın bir halk sağlığı sorunudur. Yaş ve cinsiyete göre belirlenmiş olan he... more Anemi, dünya çapında yaygın bir halk sağlığı sorunudur. Yaş ve cinsiyete göre belirlenmiş olan hemoglobin veya hematokrit değerinin 2 standart sapma veya daha fazla azalmış olduğu durum anemi olarak tanımlanmaktadır. Çocuklarda en sık görülen anemi türü demir eksikliği anemisidir. Çalışmanın amacı, Afyonkarahisar Sağlık Bilimleri Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları, Hematoloji Polikliniği'ne 2 yıl içerisinde başvuran ve anemi tanısı koyulan hastaların klinik özelliklerini, laboratuvar bulgularını ve tedavi süreçlerini değerlendirerek bölgemizde görev yapan hekimlere anemi bulguları saptanan hastaların takip ve tedavisi konusunda yardımcı olmaktır. GEREÇ VE YÖNTEM: Bu çalışmaya Afyonkarahisar Sağlık Bilimleri Üniversitesi Tıp Fakültesi Hastanesi'nde Çocuk Hematoloji Bilim Dalı'na 2016-2018 yılları arasında başvuran anemili hastalar çalışmaya dahil edildi. Hastaların epidemiyolojik ve demografik özellikleri, klinik özellikleri, laboratuvar özellikleri ve tedavi süreçleri retrospektif olarak değerlendirildi. BULGULAR: Çalışma grubu 153 kişiden oluşmakta olup, 91'i (%59,5) kız, 62'si (%40,5) erkek, yaş ortalamaları 6,7±5,5 yıl idi. Çalışma grubunu oluşturan hastaların %52,3'ünde nutrisyonel anemi, %20,9'unda hemoglobinopati, %7,2'sinde enfeksiyon nedenli anemi ve %6,5'inde malignite nedenli anemi olduğu bulundu. Nutrisyonel anemisi olan hastalar ayrıca incelendiğinde, en sık neden izole demir eksikliği olarak bulundu. SONUÇ: Demir eksikliği anemisi günümüzde de özellikle çocuk yaş grubunda sık görülmeye devam etmektedir. Demirden zengin gıda alımında yetersizlik demir eksikliği anemisinin önemli nedenlerinden biri olarak görülmektedir. Bu nedenle, ailelere bebeklik ve çocukluk döneminde beslenme alışkanlıklarının demir eksikliğini önleyecek tarzda geliştirmesi yönünde telkinlerde bulunmak ve bilgi vermek demir eksikliği anemisi prevalansını azaltmak açısından önemlidir. Anemi saptanan çocuk hastalarda bulunduğumuz bölgede talasemi taşıyıcılığının da sıklığının yüksek olduğunu bilmek Aile hekimleri ve Çocuk Sağılığı ve Hastalıkları uzmanları için gereksiz demir tedavisi kullanımdan kaçınmak için de yol gösterici olacaktır.
Eritropoezis hematopoezisin en önemli basamaklarından biridir. Erişkin bir kişide, günlük kırmızı... more Eritropoezis hematopoezisin en önemli basamaklarından biridir. Erişkin bir kişide, günlük kırmızı küre döngüsü 10 11 hücre sayısını geçer. Hemoliz ve /veya kanama gibi sebepler ile artmış eritrosit kaybı durumlarında, eritrosit üretimi hızlı ve çok belirgin bir şekilde artar. Bununla birlikte, eritrositlerin aşırı üretimi (örneğin "rebound" polisitemi) çok fazla miktarda eritrosit kaybı durumlarında bile meydana gelmez. Bu sebeple, eritropoezis çok sıkı kontrol edilen ve hızlı cevapla dolaşımdaki eritrositlerin sayılarını dar bir aralıkta tutmaya çalışan bir süreçtir. ÖZET Son yıllarda normal demir metabolizmasının ve bununla ilişkili bozuklukların ortaya konulması hususunda çok önemli ilerlemeler kaydedilmiştir. Demir emilimi, enterositlerden ve makrofajlardan salınımında rol oynayan proteinlerin ve de en önemlisi hepsidin hormonunun keşfi sonucunda bu ilerlemeler kaydedilmiştir. Demir metabolizması bozuklukları, insanlarda en çok görülen hastalıklardandır. Bu derlemede normal demir metabolizması ile demir eksikliği bozuklukları ve demir birikimi bozukları incelenerek, literatürdeki son gelişmeler ışığında patofi zyolojileri irdelenmiştir.
41st Annual Meeting of the European-Society-for-Blood-and-Marrow-Transplantation -- MAR 22-25, 20... more 41st Annual Meeting of the European-Society-for-Blood-and-Marrow-Transplantation -- MAR 22-25, 2015 -- Istanbul, TURKEYWOS: 000351632903148…European Soc Blood & Marrow Transplanta
AMAÇ: Kan ve kan bileşenlerinin hastane içinde taşınması, hemovijilansdaki önemli halkalardan bir... more AMAÇ: Kan ve kan bileşenlerinin hastane içinde taşınması, hemovijilansdaki önemli halkalardan biridir. Ancak literatürde bununla ilgili bir çalışma bulunmamaktadır. Bu konuyu değerlendirmek ve farkındalık yaratmak amacı ile çalışmamızı planladık.GEREÇ VE YÖNTEM: Afyonkarahisar Sağlık Bilimleri Üniversitesi Hastanesi’nde görev yapan ve hastane içinde kan ve kan bileşenlerini taşıyan personeller çalışmaya dahil edildi. Çalışmaya dahil edilenlere, hemovijilans hemşiresinin eğitiminden önce ve eğitiminden sonra, kan örnekleri ile kan ve kan bileşenlerinin bölümden kan merkezine ve kan merkezinden bölüme güvenli taşınması, kan taşıma çantasının özellikleri, kan merkezine getirilmesi gereken belgeler, kan ve kan bileşenleri bölüme getirildikten sonra yapılması gerekenler hakkında, 20 adet çoktan seçmeli soru içeren bir anket uygulandı.BULGULAR: Çalışmaya dahil edilme kriterlerini karşılayan 100 hastane personelinin yaş ortalaması 39.5 ± 6.5 idi. Kan ve kan bileşenlerini taşıma görevlerini...
Objectives: In congenital hemolytic anemias (CHA), it is not always possible to determine the spe... more Objectives: In congenital hemolytic anemias (CHA), it is not always possible to determine the specific diagnosis by evaluating clinical findings and conventional laboratory tests. The aim of this study is to evaluate the utility of next-generation sequencing (NGS) and clinical-exome-based copy number variant (CNV) analysis in patients with CHA. Methods: One hundred and forty-three CHA cases from 115 unrelated families referred for molecular analysis were enrolled in the study. Molecular analysis was performed using two different clinical exome panels in 130 patients, and wholeexome sequencing in nine patients. Exome-based CNV calling was incorporated into the traditional single-nucleotide variant and small insertion/deletion analysis pipeline for NGS data in 92 cases. In four patients from the same family, the PK Gypsy variant was investigated using long-range polymerase chain reaction. Results: Molecular diagnosis was established in 86% of the study group. The most frequently mutated genes were SPTB (31.7%) and PKLR (28.5%). CNV analysis of 92 cases revealed that three patients had different sizes of large deletions in the SPTB and six patients had a deletion in the PKLR. Conclusions: In this study, NGS provided a high molecular diagnostic rate in cases with rare CHA. Analysis of the CNVs contributed to the diagnostic success.
Aim: The aim of the study was to evaluate patients who were followed up with lymphadenopathy and ... more Aim: The aim of the study was to evaluate patients who were followed up with lymphadenopathy and underwent biopsy in
Total body irradiation is an important part of the pre-HSCT preparation regimen. In treatments ap... more Total body irradiation is an important part of the pre-HSCT preparation regimen. In treatments applied in combination with radiotherapy and chemotherapy, survival is long-term, especially in pediatric cases. So, increasing the quality of life of patients is as important as the success of the treatment. Today, the general approach is the application of the TBI with conventional radiotherapy devices.In the TBI applications, it is recommended to use in-vivo dosimeters to measure, quantify, control and monitor the dose homogeneity applied to the patient.In this study, we evaluated the importance of inter-fraction dose tracking for bilateral TBI irradiations, which is the most commonly used, simple and feasible method.Measurements were made with MOSFET for brain, neck, lung, umbilicus and pelvis regions in each fraction during the entire treatment, to prevent inter-fractional variations. The midline dose was calculated from the MOSFET skin doses and then interpreted. Dosage tracking within fractions allows the revision of the dosimetric errors that may occur between the fractions, and prevents the transfer of the possible error to the next fraction. Thus, it is aimed to minimize the possible side effects of the treatment and to reach the maximum targeted dose that will prevent recurrence and/or graft failure.
Journal of Pediatric Hematology Oncology, May 15, 2023
Introduction: Propranolol, a nonselective beta-blocker used in the medical treatment of infantile... more Introduction: Propranolol, a nonselective beta-blocker used in the medical treatment of infantile Hemangioma (IH), has been shown to decrease the levels of vascular endothelial growth factor and reduce angiogenesis with its antiproliferative and antiangiogenetic effects. Materials and Methods: It has been reported that the storage, transport, and secretion of vascular endothelial growth factor (VEGF) are associated with platelet volume indices (PVI). We aimed to investigate the effect of propranolol on PVI in IH patients. Propranolol treatment was started on 22 IH patients. Platelets, mean platelet volume (MPV), platelet distribution width (PDW), and plateletcrit values in the follow-ups at months 0, 1, and 2 were compared between 22 patients who received treatment and 25 patients who did not. Results: While a statistically significant difference between months 0, 1, and 2 in PDW and MPV values was detected in the treated group, it was not detected in the untreated group. Taking into consideration that VEGF levels were higher at the beginning of the treatment in the pathophysiology of the disease, it was thought that the decrease in VEGF levels by propranolol may have led to a decrease in MPV and PDW levels in the treatment group. Conclusion: Consequently, in IH cases, propranolol response follow-up can be evaluated with PVIs, especially MPV and PDW, and it may facilitate clinicians’ monitoring of the disease after propranolol administration.
OLGU SUNUMU ÖZET Nijmegen kırık sendromu, nadir görülen otozomal resesif geçişli genetik bir hast... more OLGU SUNUMU ÖZET Nijmegen kırık sendromu, nadir görülen otozomal resesif geçişli genetik bir hastalıktır. Kromozomal instabilite sendromları olarak adlandırılan bir grup hastalık içinde yer alır. Klinik olarak mikrosefali, "kuş yüzü" olarak da adlandırılan yüz görünümü, büyüme geriliği, immün yetmezlik, iyonizan radyasyon ile alkilleyici ajanlara artmış kromozomal hassasiyet ve özellikle lenfoid malignitelere yatkınlık ile karakterizedir. 8q21 bandında lokalize NBS1 genindeki mutasyonlar Nijmegen kırık sendromundan sorumludur. Bu yazıda, Fanconi anemisi ön tanısı ile merkezimize gönderilen ve burada Nijmegen kırık sendromu tanısı alan bir olgu, tüm dünyada çok seyrek görülmesi nedeniyle ve Fanconi anemisi ile benzer klinik ve biyolojik özelliklere sahip olduğundan ayırıcı tanıda dikkatli olunmasının gerekliliğini vurgulamak amacıyla sunulmuştur.
Background: Inflammation and coagulation are closely linked events. Thrombin is the key enzyme in... more Background: Inflammation and coagulation are closely linked events. Thrombin is the key enzyme in coagulation system and also has roles in inflammation. Objective: The aim of our study was to evaluate thrombin generation in children with mild asthma. Methods: Forty-two children with mild asthma and 49 healthy children were included in the study. All patients performed spirometry. Thrombin generation tests (TGT) were performed with a calibrated automated thrombogram (CAT) in children without asthma exacerbation during the last six months. During CAT assay thrombogram curves were obtained. The area under the curve showed endogenous thrombin potentials and indicated the total amount of endogenous thrombin generated; the peak height showed the highest thrombin value, thrombin lag time and time to thrombin peak were measured. Results: Thrombin lag time was significantly longer in children with asthma (3.98 ± 1.2 min) compared to those in the control group (3.29 ± 0.6 min) (p < 0.01). Children with asthma also had longer thrombin tail time compared to the control group (19.5 ± 8.9 min vs. 16.7 ± 2.9 min, p = 0.02). Thrombin peak was inversely correlated with FEF 25-75 (r = −0.41, p < 0.01). Thrombin lag time was inversely correlated with FEF 25-75 (r = −0.39, p < 0.01). Conclusion: Inflammation in mild asthma seems to disturb coagulation but this disturbance may not be so strong as to increase thrombin levels and may only affect the initiation phase of thrombin generation.
OLGU SUNUMU ÖZET Diyafragma paralizisi, yenidoğan bebeklerde genellikle doğum travmasına bağlı ol... more OLGU SUNUMU ÖZET Diyafragma paralizisi, yenidoğan bebeklerde genellikle doğum travmasına bağlı olarak frenik sinir zedelenmesi sonucunda ortaya çıkmaktadır. Etkilenen bebeklerin büyük çoğunluğunda solunum sıkıntısı, diyafragma elevasyonu ve tutulan tarafta paradoksal solunum hareketleri görülür. Asemptomatik diyafragma evantrasyonunda tedavi konservatifken, semptomatik diyafragma evantrasyonu konjenital olsun veya olmasın cerrahi tedavi ile düzeltilmelidir. Burada mekonyumla boyalı olarak ve sağ kolda brakiyal pleksus zedelenmesi ile doğan ve aynı taraftaki diyafragma paralizisine bağlı solunum sıkıntısı gelişen bir yenidoğan sunulmuş ve tartışılmıştır.
Preimplantation genetic diagnosis involves the diagnosis of a genetic disorder in embryos obtaine... more Preimplantation genetic diagnosis involves the diagnosis of a genetic disorder in embryos obtained through in vitro fertilization, selection of healthy embryos, and transfer of the embryos to the mother's uterus. Preimplantation genetic diagnosis has been used not only to avoid the risk of having an affected child, but it also offers, using HLA matching, preselection of potential HLA-genoidentical healthy donor progeny for an affected sibling who requires bone marrow transplantation. Here, we share the hematopoietic stem cell transplantation results of 52 patients with different benign and malign hematological or metabolic diseases or immunodeficiencies whose donors were siblings born with this technique in Turkey since 2008. The median age of the patients' at the time of the transplantation was 8 years (range, 3 to 16 years) and the median age of the donors was 2 years (range, .5 to 6 years). The most common indication for HSCT was thalassemia major (42 of all patients, 80%). The stem cell source in all of the transplantations was bone marrow. In 37 of the transplantations, umbilical cord blood of the same donor was also used. In 50 of the 52 patients, full engraftment was achieved with a mean of 4.6 × 10 6 CD 34 + cells per kg of recipient weight. Ninety-six percent of the patients have been cured through hematopoietic stem cell transplantation without any complication. Primary engraftment failure was seen in only 2 patients with thalassemia major. All of the donors and the patients are alive with good health status. Preimplantation genetic diagnosis with HLA matching offers a life-saving chance for patients who need transplantation but lack an HLA genoidentical donor.
Objectives: Iron is taken into enterocytes at the duodenum via apical divalent metal-ion transpor... more Objectives: Iron is taken into enterocytes at the duodenum via apical divalent metal-ion transporter 1 protein. Besides iron, divalent metal-ion transporter 1 also transports other divalent metals. We aimed to investigate blood heavy metal levels in patients with ineffective erythropoiesis. Methods: Blood levels of heavy metals including Pb, Al, Cd, Cr, Co, Cu, and Zn were measured in patients with thalassemia major (TM), thalassemia intermedia (TI), congenital dyserythropoietic anemia (CDA), and age-and sex-matched healthy controls. Results: Blood samples were obtained from 68 patients (51 patients with TM, 8 with TI, 9 with CDA), and a control group that included 65 volunteers. Patients with TM were found to have lower Al, Pb, and Zn, and higher Cd levels compared with the control group. The patients treated with deferasirox were further analyzed and Pb and Zn levels were found lower compared with the control group. Discussion: Patients with TM had tendency to have elevated levels of plasma cadmium; however, the median level was not at a toxic level. Increased metal-ion transporter 1 activity may cause heavy metal accumulation, but deferasirox chelation may be protective against heavy metals besides iron.
Aim: In disorders with ineffective erythropoiesis like thalassemia major (TM) iron absorption fro... more Aim: In disorders with ineffective erythropoiesis like thalassemia major (TM) iron absorption from gastrointestinal tract increases regardless of iron store. Iron is taken into enterocytes at duodenum via apical divalent metallo protein 1 (DMT-1) protein. Besides iron DMT-1 also transports other divalent metals like cadmium (Cd) , cobalt (Co), copper (Cu), lead (Pb), manganese, nickel, and zinc (Zn). In our study we hypothesized that absorption of heavy metals via DMT-1 protein may be elevated in particularly TM and other disorders with ineffective erythropoiesis, and we aimed to investigate blood heavy metal levels in these patients and compare with control group. Methods: Study was performed between December 2014 and April 2015 in Hacettepe University Children Hospital Pediatric Hematology Clinic and Gulhane Military Medical Academy Pediatric Hematology Clinic. Blood samples were taken from patients with TM, thalassemia intermedia (TI), congenital dyserythropoietic anemia (CDA), and age and sex matched healthy control group. Heavy metal exposure was searched via questionnaire for each participant. Serum heavy metals including aluminium (Al), Cd, Co, crom (Cr), Cu, Pb, selenyum (Se), and Zn were measured. Results: Blood samples were obtained from 51 patients with TM, 8 with TI, 9 with CDA, and control group included 65 healthy volunteers. General characteristics of patients and control group were showed on Table 1. There wasn&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;t statistical difference between patients and control group in terms of age and heavy metal exposure. Plasma or serum heavy metal levels of patients and control group were shown in Table 2. Patients with TM were found to have lower Al, Pb, Se, and Zn, and higher Cd levels compared to control group. In patients with TM, Cd level was higher than control group, however median value of Cd was still in normal range. In TI group only Se level was lower (p; 0.003), in CDA group both Se (p; 0.008) and Zn (p; 0.02) levels were lower compared to control group. When we looked for patients with TM, TI, and CDA who were treated with deferasirox; Al, Pb, Se, and Zn levels were lower, and Cd level was higher than control group. Discussion: Opposite to our hypothesis Al, Pb, Se. and Zn levels were lower in TM group and in group of patients who were on deferasirox. Se and Zn levels in patients with TM have been studied before but contradictory results have been reported. Generally they were reported to be lower in patients with TM. These results have been explained with micronutrient deficiency, and chelator treatment. Deferasirox has been reported to bind to Al and Zn, as well. The lower Al and Zn levels in our study may be explained with deferasirox therapy. Deferasirox may also have capacity to bind Pb, related to the lower levels found in our study in deferasirox group. In addition to iron chelation, chelator treatment with deferasirox might have protective effects in patients with ineffective erythtopoiesis against heavy metal toxicity. Table 1. General characteristics of patient and control groups TM TI CDA Control Number 51 8 9 65 Age* (year) 20.2 (4.5-39) 8.8 (3.4-37) 9 (2.5-14.6) 16.8 (3-39) Male/female 23/28 3/5 6/3 33/32 Heavy metal exposure YesNo 2130 62 81 3134 Chelator usage NoDeferasiroxDeferoxamineDeferoxamine+ deferriprone 04641 2600 4500 TM: thalassemia major, TI: thalassemia intermedia, CDA: congenital dyserythropoietic anemia *Median and range Table 2. Heavy metal levels in patient and control groups TM TI CDA Control pa Aluminium (mcg/L) (0-50) 27.,6 (10.1-82.1)* 50.1 (18.2-91.3) 41.1 (11.3-48.5) 43.8 (2.4-175.6) 0.01 Copper (mcg/dL) (70-150) 71.7 (22.3-175.5) 90.5 (27.9-165.2) 59.9 (35.1-110.3) 78.5 (20.5-189) 0.1 Zinc (mcg/dL) (70-120) 56 (21.8-126.2) 63.8 (34.4-130.2) 59.3 (23.6-76.9) 70.8 (36-166.8) 0.001 Cadmium (mcg/L) (0.3-1.2) 0.75 (0.34-2.82) 0.77 (0.36-1.37) 0.59 (0.38-0.78) 0.58 (0.23-3.54) 0.002 Cobalt (mcg/L) (0.5-3.9) 0 (0-6.73) 0.19 (0-1.94) 0.08 (0-2.49) 0.39 (0-6.59) 0.23 Crom (mcg/L) (2.8-45) 45.08 (39.4-63.8) 45.1 (41.7-47.5) 45.7 (35.5-53.7) 46.9 (28.5-96.1) 0.49 Lead (mcg/L) (0-150) 3.83 (0-22.7) 6.71 (0-11.1) 5.18 (0-16.3) 9.31 (0-45.2)…
Objectives: Beta-thalassemia major is associated with the increased risk of cardiovascular morbid... more Objectives: Beta-thalassemia major is associated with the increased risk of cardiovascular morbidity and mortality. Asymmetric dimethylarginine (ADMA) has been implicated in the pathogenesis of endothelial dysfunction and atherosclerosis. In this study, we aimed to investigate circulating ADMA concentrations in children with beta-thalassemia major. Methods: Thirty-one beta-thalassemia major children aged between 4 and 16 year old and age, gender-matched 36 healthy controls were enrolled in the study. Plasma ADMA was measured along with the soluble vascular cell adhesion molecule-1 (sVCAM-1), soluble intercellular adhesion molecule-1 (sICAM-1), P-selectin, and Pentraxin-3. Results: Age, gender and body mass index were similar in two groups. Plasma ADMA, sVCAM-1, and sICAM-1 measurements were significantly higher in beta-thalassemia major patients than the control group (p < 0.004 for ICAM-1, p < 0.001 for other parameters). There were positive significant correlations between ADMA, sVCAM-1 and sICAM-1 (r = 0.437, p < 0.001; r = 0.544, p < 0.001; r = 0.405, p < 0.001, respectively) in the whole group. Discussion: The findings of the current study show us that increased plasma ADMA levels in children with beta-thalassemia major may be an early marker for endothelial dysfunction and may play a role in the development of premature atherosclerosis in beta-thalassemia major patients.
Çukurova Üniversitesi Tıp Fakültesi dergisi, Nov 3, 2015
Labial adhesion is a disease which occurs after complete or partial fusion of labium majors and /... more Labial adhesion is a disease which occurs after complete or partial fusion of labium majors and / or minors. It usually originates at the posterior fourchette and sometimes progresses towards urethral opening and clitoris. Incidence of labial adhesion is most frequent in prepubescent girls with a peak incidence at the age of 13-23 months. The factors that cause labial adhesion remain unknown. Vaginal irritation or inflammation process with underlying hypoestrogenism can cause this disease.We present a case who developed labial adhesion due to ovarian failure after hematopoietic stem cell transplantation.
Anemi, dünya çapında yaygın bir halk sağlığı sorunudur. Yaş ve cinsiyete göre belirlenmiş olan he... more Anemi, dünya çapında yaygın bir halk sağlığı sorunudur. Yaş ve cinsiyete göre belirlenmiş olan hemoglobin veya hematokrit değerinin 2 standart sapma veya daha fazla azalmış olduğu durum anemi olarak tanımlanmaktadır. Çocuklarda en sık görülen anemi türü demir eksikliği anemisidir. Çalışmanın amacı, Afyonkarahisar Sağlık Bilimleri Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları, Hematoloji Polikliniği'ne 2 yıl içerisinde başvuran ve anemi tanısı koyulan hastaların klinik özelliklerini, laboratuvar bulgularını ve tedavi süreçlerini değerlendirerek bölgemizde görev yapan hekimlere anemi bulguları saptanan hastaların takip ve tedavisi konusunda yardımcı olmaktır. GEREÇ VE YÖNTEM: Bu çalışmaya Afyonkarahisar Sağlık Bilimleri Üniversitesi Tıp Fakültesi Hastanesi'nde Çocuk Hematoloji Bilim Dalı'na 2016-2018 yılları arasında başvuran anemili hastalar çalışmaya dahil edildi. Hastaların epidemiyolojik ve demografik özellikleri, klinik özellikleri, laboratuvar özellikleri ve tedavi süreçleri retrospektif olarak değerlendirildi. BULGULAR: Çalışma grubu 153 kişiden oluşmakta olup, 91'i (%59,5) kız, 62'si (%40,5) erkek, yaş ortalamaları 6,7±5,5 yıl idi. Çalışma grubunu oluşturan hastaların %52,3'ünde nutrisyonel anemi, %20,9'unda hemoglobinopati, %7,2'sinde enfeksiyon nedenli anemi ve %6,5'inde malignite nedenli anemi olduğu bulundu. Nutrisyonel anemisi olan hastalar ayrıca incelendiğinde, en sık neden izole demir eksikliği olarak bulundu. SONUÇ: Demir eksikliği anemisi günümüzde de özellikle çocuk yaş grubunda sık görülmeye devam etmektedir. Demirden zengin gıda alımında yetersizlik demir eksikliği anemisinin önemli nedenlerinden biri olarak görülmektedir. Bu nedenle, ailelere bebeklik ve çocukluk döneminde beslenme alışkanlıklarının demir eksikliğini önleyecek tarzda geliştirmesi yönünde telkinlerde bulunmak ve bilgi vermek demir eksikliği anemisi prevalansını azaltmak açısından önemlidir. Anemi saptanan çocuk hastalarda bulunduğumuz bölgede talasemi taşıyıcılığının da sıklığının yüksek olduğunu bilmek Aile hekimleri ve Çocuk Sağılığı ve Hastalıkları uzmanları için gereksiz demir tedavisi kullanımdan kaçınmak için de yol gösterici olacaktır.
Eritropoezis hematopoezisin en önemli basamaklarından biridir. Erişkin bir kişide, günlük kırmızı... more Eritropoezis hematopoezisin en önemli basamaklarından biridir. Erişkin bir kişide, günlük kırmızı küre döngüsü 10 11 hücre sayısını geçer. Hemoliz ve /veya kanama gibi sebepler ile artmış eritrosit kaybı durumlarında, eritrosit üretimi hızlı ve çok belirgin bir şekilde artar. Bununla birlikte, eritrositlerin aşırı üretimi (örneğin "rebound" polisitemi) çok fazla miktarda eritrosit kaybı durumlarında bile meydana gelmez. Bu sebeple, eritropoezis çok sıkı kontrol edilen ve hızlı cevapla dolaşımdaki eritrositlerin sayılarını dar bir aralıkta tutmaya çalışan bir süreçtir. ÖZET Son yıllarda normal demir metabolizmasının ve bununla ilişkili bozuklukların ortaya konulması hususunda çok önemli ilerlemeler kaydedilmiştir. Demir emilimi, enterositlerden ve makrofajlardan salınımında rol oynayan proteinlerin ve de en önemlisi hepsidin hormonunun keşfi sonucunda bu ilerlemeler kaydedilmiştir. Demir metabolizması bozuklukları, insanlarda en çok görülen hastalıklardandır. Bu derlemede normal demir metabolizması ile demir eksikliği bozuklukları ve demir birikimi bozukları incelenerek, literatürdeki son gelişmeler ışığında patofi zyolojileri irdelenmiştir.
41st Annual Meeting of the European-Society-for-Blood-and-Marrow-Transplantation -- MAR 22-25, 20... more 41st Annual Meeting of the European-Society-for-Blood-and-Marrow-Transplantation -- MAR 22-25, 2015 -- Istanbul, TURKEYWOS: 000351632903148…European Soc Blood & Marrow Transplanta
AMAÇ: Kan ve kan bileşenlerinin hastane içinde taşınması, hemovijilansdaki önemli halkalardan bir... more AMAÇ: Kan ve kan bileşenlerinin hastane içinde taşınması, hemovijilansdaki önemli halkalardan biridir. Ancak literatürde bununla ilgili bir çalışma bulunmamaktadır. Bu konuyu değerlendirmek ve farkındalık yaratmak amacı ile çalışmamızı planladık.GEREÇ VE YÖNTEM: Afyonkarahisar Sağlık Bilimleri Üniversitesi Hastanesi’nde görev yapan ve hastane içinde kan ve kan bileşenlerini taşıyan personeller çalışmaya dahil edildi. Çalışmaya dahil edilenlere, hemovijilans hemşiresinin eğitiminden önce ve eğitiminden sonra, kan örnekleri ile kan ve kan bileşenlerinin bölümden kan merkezine ve kan merkezinden bölüme güvenli taşınması, kan taşıma çantasının özellikleri, kan merkezine getirilmesi gereken belgeler, kan ve kan bileşenleri bölüme getirildikten sonra yapılması gerekenler hakkında, 20 adet çoktan seçmeli soru içeren bir anket uygulandı.BULGULAR: Çalışmaya dahil edilme kriterlerini karşılayan 100 hastane personelinin yaş ortalaması 39.5 ± 6.5 idi. Kan ve kan bileşenlerini taşıma görevlerini...
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