Alterations of panoramic radiomorphometric indices in children and adolescents with beta-thalassemia major:a fractal analysis study

Beta-thalassemia major is an inherited disorder that can cause bone deformity and loss of bone mineral density. The objective of this study is to evaluate the cortical and trabecular mandibular bone morphology of children and adolescents who have beta-thalassemia major (ß-TM) using a fractal dimension (FD) analysis and different panoramic radiomorphometric indices with digital panoramic radiographic images (DPRIs). The study included 80 patients (with 40 patients each of ß-TM and control). The mandibular cortical width (MCW), panoramic mandibular index (PMI), mandibular cortical index (MCI), and simple visual estimation (SVE) were evaluated, and an FD analysis of five regions of interest (ROIs) (ROI 1: in basal cortical bone; ROI 2: in premolar region; ROI 3: in molar region; ROI 4: in angulus mandible and ROI 5: in condyle region) was obtained in all DPRIs. Quantitative variables were analyzed using the student?s t-test , Kruskal?Wallis and Mann-Whitney U tests. When the ß-TM groups were compared with controls, there were no statistically significant differences found in the mean FD values, the ROIs of the trabecular bone, or the SVE. There was a significant correlation in the mean MCW, PMI, ROI of cortical bone (ROI 1), and MCI between ß-TM and control groups (p < 0.001, p < 0.001, p = 0.047, and p = 0.046, respectively). The mean MCW values correlated with the SVE in both the ß-TM and control groups (p = 0.031 and p < 0.001, respectively). While the mean MCW values correlated with the MCI (p = 0.04) in the control group, the mean MCW values were not correlated with the MCI (p = 0.493) in ß-TM group. The current study revealed lower MCW and PMI values in the ß-TM group. While the mean FD values of trabecular bone is similar to the control groups, the mean FD value is lower in cortical bone in the ß-TM group. MCW, PMI, FD of cortical bone and MCI may be key indicators in individuals with beta-thalassemia major

Evaluation the oral hygiene conditions, oral Candida colonization and salivary Streptococcus mutans and Lactobacilli density in a group of ?-thalassemic children and adolescence

In this study, the prevalence and distribution of dental caries and oral hygiene conditions in a group of patients with ?-TM are evaluated and the results compared to age-and gender-matched healthy patients. In addition, oral candida colonization and the density of Streptococcus mutans (S.mutans) and Lactobacilli in the total saliva are assessed. This study involved 59 ?-TM patients between 6-16 years old (mean:11.59±3.22), who applied to the Department of Pedodontics, Faculty of Dentistry, Akdeniz University, with ongoing follow-up, treatment and regular blood transfusions. All enrolled patients were diagnosed with ?-TM by the Department of Pediatric Hematology and Oncology, Faculty of Medicine, Akdeniz University. As a control group, age-and gender-matched healthy 50 patients were included to the study. Plaque (p=0.001), DMFT (p=0.009) and DMFS (p=0.039) indices were significantly higher in the ?-TM patients, whereas, the oral hygiene status was significantly lower (p=0.004). Saliva buffering capacity average was insignificantly but slightly more in ?-TM patients(p=0.131). While S.mutans values were significantly higher in the ?-TM patients (p=0.002), no significant difference was found in the Lactobacillus (p=0.131) and Candida values (p=0.33). DMFT, DMFS, Plaque and oral hygiene indices and S.mutans values were found significantly different in ?-TM patients than healthy, control group patients, in this study

The effect of oral chelators on major thalassemia patients life quality

AMAÇ: Talasemi major'da yaşam kalitesini düşüren en önemli etkenlerden biri deferoksaminin uzun süreli subkutan uygulanmasının getirdiği zorluklardır. Bu kesitsel çalışmada, 8-18 yaş arası beta talasemı major'lu okul çocuklarında oral şelatörlerın yaşam kalitesine etkisi değerlendirilmiştir. GEREÇ ve YÖNTEM: Aynı merkezde en az 1 yıldır izlemde olan, talasemi major tanısı almış 32 hasta değerlendirildi. Deferıprone 40-75 mg/kg/g ve deferasıroks 20-40 mg/kg/g dozunda alınırken, deferıpron günde 3 dozda ve deferasıroks sabah tek dozda oral alındı. Yaşam kalıtesı değerlendırmesınde PedsQL anketı hastalara ve ebeveynlerıne ayrı olarak uygulandı. istatıstıksel değerlendırmede, ıkı gruba aıt nıcel değışkenlerın karşılaştırılması amacıyla Student's t testı veya Mann-Whıtney U testı kullanılmıştır. istatıstıksel olarak anlamlılık ıçın p<0.05 kabul edılmıştır. BULGULAR: Oral şelatör kullanımının, çocukların kendılerıne göre yaşam kalıtesı toplam puanına etkısı olmamakla beraber ebeveynlere göre deferasıroks alan hastaların deferıprone alanlara göre yaşam kalıtesı puan ortalamasının anlamlı derecede yüksek olduğu saptandı (p=0.019). Transfüzyon sıklığının artışı, ıstatıstıksel olarak anlamlı olmasa da, yaşam kalitesini düşürdüğü gözlendı. SONUÇ: Yaşam boyu tedavı uygulanmasının talasemı majordakı yaşam kalıtesıne etkısı nedenıyle hastalara olabıldığınce az sıklıkta hastane vızıtı ve tedavı uygulanması gerekmektedır. Çalışmamızda daha az doz sıklığında uygulanan deferasıroks'un yaşam kalitesini deferıpron'a göre arttırdığı gözlenmiştir.OBJECTIVE: One of the most important factors which decrease the quality of life of thalassemia major patients is the discomfort of long term subcutanous administration of deferoxamine. In this cross sectional study, we analysed the effect of oral chelator usage on quality of life of beta thalassemia major patients who are 8-18 years old school children. MATERIALS and METHODS: We studied 32 thalassemia major patients who were under observation for at least one year at the same center. Deferiprone and deferasirox were used in a dose of 40-75 mg/kg/d thrice daily and 10-40 mg/kg/d once daily in the morning, respectively. PedsQL was used separately for patients and their parents to assess the quality of life. Statistical analyses were perfomd to compare the two groups´ quantitative variables using the Student t-test or Mann-Whitney U test. Statistically signi? cant meant a p-value of less than 0.05. RESULTS: We determined that oral chelator usage did not affect the overall score of quality of life according to the self -reports of children, however according to the parents, the patients using deferasirox had significantly better quality of life than the patients using deferiprone (p=0.019). Higher frequency of transfusion decreased the quality of life scores, however it was not significant. CONCLUSION: Because of the major effect of lifelong treatment on quality of life in thalassemia major, hospital visits and treatments should be in lower frequency. We determined that deferasirox with a lower frequency of dosage application improved quality of life better than deferiprone in users

Ekstrakraniyal malign germ hücreli tümör tanılı hastaların klinik özellikleri ve tedavi sonuçları; 20 yıllık tek merkez deneyimi

Introduction: Germ cell tumors account for 2–3% of all pediatric tumors. The aim of this study was to evaluate the clinical features and treatment outcomes of pediatric patients treated and followed up for extragonadal MGCTs in our center. Materials and Methods: A total of 41 patients diagnosed with MGCTs in the pediatric oncology department of Akdeniz University between June 1999 and June 2019 were evaluated retrospectively. Results: Twenty-nine (71%) of the patients were girls and female dominance (p<0.001). The median age was 3.22 (0–18) years. The most patients in the ≤ 5year age group (p<0.001). Nineteen (44%) of the tumors were gonadal and 22 (54%) were extragonadal. The most common histolology of MGCTs were yolk sac tumor (36%), mixed GCTs (29%), immature teratoma (20%), and dysgerminoma (15%). Twenty-five (61%) patients presented with advanced stage disease and 37 patients (90%) were treated with chemotherapy. The patients with stage I testicular and stage I ovarian germ cell tumors underwent complete tumor resection followed by a watch-and-wait approach with alpha fetoprotein monitoring without chemotherapy. Of six patients with relapse/refractory disease, two patients survived. Two patients who underwent autologous stem cell transplantation showed complete response but later died due to infection. The median follow-up period of the patients was 34.9 (4–190.6) months and the 10-year overall and disease-free survival rates were 77.1±6.8% 77.1±6.8%. Two relapsed refractory patients who underwent autologous transplantation survived at a mean of 33.21 months. Conclusions: The clinical features and treatment outcomes of the patients in our study were consistent with the literature. The fact that most of our patients were symptomatic at presentation and had advanced stage disease when diagnosed highlights the importance of detailed evaluation and examination. Although good outcomes are achieved in patients with early stage disease, new treatment approaches are needed for patients with advanced and relapsing diseaseGiriş: Germ hücreli tümör tüm pediatrik tümörlerin %2-3’ünü oluşturur. Özellikle platin bazlı kemoterapi rejimlerinin uygulanmasından sonra sağ kalım oranları %85’lerden fazladır. Malign germ hücreli tümörler (MGHT) çocuklarda oldukça heterojen bir gruptur. Bu çalışma ile ekstrakraniyal MGHT tanılı hastalarımızın klinik özellikleri ve tedavi sonuçlarının değerlendirilmesi amaçlandı. Gereç ve Yöntem: Akdeniz Üniversitesi Çocuk Onkoloji Kliniği’nde 1999 –2019 Haziran tarihleri arasında ekstrakraniyal MGHT tanısı alan 41 hasta geriye dönük olarak değerlendirildi. Bulgular: Hastaların 29 (%71) `i kız olup K/E cinsiyet oranı: 1,75 olup anlamlı olarak kız cinsiyet hakimdi (p<0.001). Ortanca tanı yaşı 3,22 yıl (0-18 yaş) olup hastalar ağırlıklı olarak (%56 hasta) ≤ 5 yaş idi (p<0.001). Tümörlerin 19 (%44) `ü gonadal, 22 (%54) `ü ekstragonadal olup en sık ekstagonadal yerleşim yeri sakrokoksigeal bölge (%22) idi. Histolojik değerlendirmede sırasıyla yolk sak tümörü (%36), mikst GHT (%29), immatür teratom (%20) ve disgerminom (%15) saptandı. Hastaların 25 (%61)`i ileri evre hastalık ile başvurmuştu. Hastaların 37 (%90)’ına kemoterapi verildi. Evre I testis ve evre I over GHT hastalarında tümörün cerrahi olarak tam çıkartılmasının ardından αFP değerleri takip edilerek “bekle ve izle” yaklaşımı ile kemoterapi verilmedi. Tanı sonrası relaps refrakter hastalık ile seyreden 6 hastanın ikisi progresif hastalıktan kaybedildi. Otolog kök hücre nakli yapılan iki hastada nakil sonrası kür sağlanmasına rağmen enfeksiyon nedeni ile kaybedildi. Hastaların ortanca izlem süresi 34.9 ay (4-190,6 ay), 5 ve 10 yıllık genel ve hastalıksız yaşam oranları 81.9±6.3%, 81.9±6.3% ve 77.1±6.8% 77.1±6.8 ve %77,1±6,8 olarak bulundu. Nakil yapılan iki hastanın sağkalım süresi ortalama 33.21 ay olarak hesaplandı. Sonuç: Ekstrakraniyal MGHT`lerin tedavisinde, konservatif cerrahi, evre I hastalar için “bekle ve gör” yaklaşımı ve platin bazlı kemoterapi rejimleri ile başarılı sonuçlar alınmaktadır. İlk başvuruda hastaların yakınmalarının olmasına rağmen çoğu hastanın ileri evre hastalık ile başvurduğunun saptanması hekimlerin ayrıntılı değerlendirme ve muayenelerinin önemine dikkat çekmektedir. Erken evre hastalarda sonuçlar başarılı iken ileri evre ve relaps hastalarda yeni tedavi yaklaşımlarına ihtiyaç vardır

Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity

Primary immunodeficiency disorders enable identification of genes with crucial roles in the human immune system. Here we study patients suffering from recurrent bacterial, viral and Cryptosporidium infections, and identify a biallelic mutation in the MAP3K14 gene encoding NIK (NF- B-inducing kinase). Loss of kinase activity of mutant NIK, predicted by in silico analysis and confirmed by functional assays, leads to defective activation of both canonical and non-canonical NF- B signalling. Patients with mutated NIK exhibit B-cell lymphopenia, decreased frequencies of class-switched memory B cells and hypogammaglobulinemia due to impaired B-cell survival, and impaired ICOSL expression. Although overall T-cell numbers are normal, both follicular helper and memory T cells are perturbed. Natural killer (NK) cells are decreased and exhibit defective activation, leading to impaired formation of NK-cell immunological synapses. Collectively, our data illustrate the non-redundant role for NIK in human immune responses, demonstrating that loss-of-function mutations in NIK can cause multiple aberrations of lymphoid immunity

Paroxysmal nocturnal hemoglobinuria case with thrombosis under eculizumab treatment

43. Ulusal Hematoloji Kongresi’nde sunulmuştur.Paroksismal noktürnal hemoglobinüri (PNH) nadir görülen kronik, ilerleyici ve yaşamı tehdit eden multisistemik bir hastalıktır. Tanı konduktan sonraki ilk beş yıl içerisinde mortalite %35 iken on yıldan sonra % 50’ye ulaşmaktadır. PNH’daki progresif morbidite ve mortalitenin altta yatan nedeni kronik hemoliz iken eşlik eden tromboz ölümlerin % 40-67’sinden sorumlu olabilmektedir. Olguların % 40’ı klinik olarak saptanabilen trombotik olaylar yaşar. Tromboz tedavisinde antikoagülan uygulaması yanı sıra eğer kullanılmıyorsa ekulizumab’ın da başlanması önerilmektedir. Ekulizumab tedavisi altında tromboz gelişmesi nadir bir komplikasyondur. Burada kemik iliği yetmezliği ile başvuran, kök hücre nakli (KHN) hazırlık aşamasında ekulizumab tedavisi altında tromboz gelişen ve hızla ilerleyen bir PNH olgusu literatür eşliğinde bildirilmektedir.Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, chronic, progressive and life-threatening multisystem disease. Within the first five years after diagnosis, mortality is 35%, but after ten years it reaches 50%. The underlying cause of progressive morbidity and mortality in PNH is chronic hemolysis, which is responsible for 40-67% of accompanying thrombotic deaths. 40% of the cases experience clinically detectable thrombotic events. In addition to anticoagulant therapy in the treatment of thrombosis, it is recommended to start ekulizumab if not used. Development of thrombosis under the treatment of equlizumab is a rare complication. It is reported here that a PNH patient who develops thrombosis under equlizumab therapy and progresses rapidly with stem cell transplantation (SCT) preparation with bone marrow failure

Hemofilili çocuklarda su içi egzersizlerinin beden kompozisyonu, denge ve eklem hareket açıklığına etkisi

Aim of this study is to examine the affect of ten week period aquatic exercise on children&rsquo;s body composition, balance, and range motion who are under constant observation of Akdeniz University Faculty of Medicine Division of Pediatric Hematology-Oncology.Seven boys who were 10.71&plusmn;3.1 mean aged voluntarily attended in this study. Participants made 60 minutes exercises twice a week, and study lasted for ten weeks. Bioelectricity impedance, kinesthetic balance, tandem stance-walk and joint range of motion measurements were obtained prior and post to the exercise program. Statistical analysis of data was made by Wilcoxon test. At the end of exercise program satisfying results in measures of height, weight, basal metabolic rate, free fat mass, and total body water were obtained (p&lt;0.05). In hip and shoulder joint range of motion satisfying results were obtained in flexometric measures (p&lt;0.05).As result of this study, it is founded that aquatic exercise may increase muscle mass, and may affect joint range of motion in three axed joints as hip and shoulder positively.&Ccedil;alışmanın amacı; Akdeniz &Uuml;niversitesi Tıp Fak&uuml;ltesi &Ccedil;ocuk Hematoloji-Onkoloji BD. tarafından s&uuml;rekli izlenen hemofili hastası &ccedil;ocuklarda 10 haftalık su i&ccedil;i egzersizlerinin beden kompozisyonu, denge ve eklem hareket a&ccedil;ıklığına etkisini incelemektir. &Ccedil;alışmaya, yaşları ortalama 10,71&plusmn;3,1 yıl olan 7 erkek &ccedil;ocuk g&ouml;n&uuml;ll&uuml; olarak katılmıştır. Katılımcılar haftada 2 g&uuml;n, 60 dk su i&ccedil;i egzersizleri yapmış ve &ccedil;alışma toplam 10 hafta s&uuml;rm&uuml;şt&uuml;r. Katılımcıların, egzersiz programı &ouml;ncesi ve sonrası Biyoelektirik impedans, kinestetik denge, tandem duruş- y&uuml;r&uuml;ş ve eklem hareket a&ccedil;ıklığı &ouml;l&ccedil;&uuml;mleri ger&ccedil;ekleştirildi. Verilerin istatistiksel analizi Wilcoxon testi ile yapıldı. Egzersiz d&ouml;nemi sonunda boy, v&uuml;cut ağırlığı, bazal metabolizma hızı, yağsız beden k&uuml;tlesi ve toplam beden suyu değerlerinde olumlu y&ouml;nde anlamlılığa rastlanmıştır (p&lt;0,05). Fleksometrik &ouml;l&ccedil;&uuml;mlerde ise kal&ccedil;a eklem hareket a&ccedil;ıklığı (kal&ccedil;a EHA) ve omuz eklem hareket a&ccedil;ıklığı (omuz EHA) değerlerinde anlamlı farklar g&ouml;zlemlenmiştir (p&lt;0,05). &nbsp;Sonu&ccedil; olarak &ccedil;alışmada, Su i&ccedil;i egzersizlerin kas k&uuml;tlesinde artışa neden olabileceği ve &uuml;&ccedil; eksenli eklemlerden kal&ccedil;a ve omuzda EHA&rsquo;na olumlu katkılarının olabileceği belirlenmiştir

Hematopoietic Stem Cell Transplantation Activity and Trends at a Pediatric Transplantation Center in Turkey During 1998-2008

OBJECTIVE: The aim of this study was to document hematopoietic stem cell transplantation (HSCT) activity and trends at our treatment center. METHODS: Data collected over a 10-year period were retrospectively analyzed, concentrating primarily on types of HSCT, transplant-related mortality (TRM), stem cell sources, indications for HSCT, and causes of death following HSCT. RESULTS: In total, 222 allogeneic (allo)-HSCT (87.4%) and 32 autologous (auto)-HSCT (12.6%) procedures were performed between 1998 and 2008. Stem cells obtained from unrelated donors were used in 22.6% (50/222) of the allo- HSCTs. Cord blood was the source of hematopoietic stem cells (HSC) in 12.2% of all transplants. The most common indication for allo-HSCT was hemoglobinopathy (43.2%), versus neuroblastoma (53.1%) for auto-HSCT. The TRM rate 1 year post transplantation was 18.3% ± 2.5% for all transplants, but differed according to transplantation type (23.5% ± 7.9% for auto-HSCT and 17.5% ± 2.6% for allo-HSCT). The most common cause of death 1 year post HSCT was infection (35.9%). CONCLUSION: The TRM rate in the patients that underwent allo-HSCT was similar to that which has been previously reported; however, the TRM rate in the patients that underwent auto-HSCT was higher than previously reported in developed countries. The selection of these patients to be transplanted must be made attentively