Background: For patients with severe hemophilia A, bleeding increases anxiety and reduces quality of life (QoL). Prophylaxis is a therapeutic approach that enhances QoL for these individuals, but compliance is a major issue. Aims: This study investigated adherence to prophylaxis relative to QoL and anxiety level among patients with this condition. Methods: Forty-three patients with severe hemophilia A were stratified by age: 12 children in Group 1 (2-13 years), 17 adolescents in Group 2 (14-21 years), and 14 young adults in Group 3 (>21 years). Regular prophylaxis (RP) 25-40 IU/kg was prescribed three times weekly for 30 patients, and pharmacokinetic (PK) prophylaxis was prescribed for the remaining 13. Quality of life and anxiety level were assessed in parents of Group 1 patients and Group 2/3 patients using the 36-Item Short Form Health Survey (SF36) and the State-Trait Anxiety Inventory (STAI), respectively. The present study was approved by Gazi University ethical committee.Results were analysed using SPSS-15.0 program. Results: All 12 Group 1 patients (100%; nine RP, three PK) and 10 Group 2 patients (59%; all PK) adhered completely to prophylaxis. Seven Group 2 patients (41%) and four Group 3 patients (29%) received irregular prophylaxis. The remaining 10 Group 3 patients (71%) received on-demand treatment. Group 1 patients experienced vascular access problems due to young age. Seven (58%) of them were receiving home treatment. Nine Group 3 patients (64%) were reluctant to receive prophylaxis because they lived a sedentary life and were not participating in sports activities. Median QoL score was lower in Group 3 than in Group 1 parents and Group 2 patients (p<0.05 for both). Median anxiety level was higher in Group 1 parents and Group 3 patients than in Group 2 patients (p<0.05 for both). Summary/Conclusion: The results suggest that PK prophylaxis would improve QoL and reduce anxiety for young adults with severe hemophilia A. The findings also indicate that improved family education about vascular access for home treatment would improve QoL and reduce anxiety for children with this condition.
Castleman disease is a rare lymphoproliferative disorder of unclear etiology. It usually presents as localized enlarged lymph nodes in children. Surgical excision is curative in localized form. Clinical findings of malabsorption are rarely reported in the literature. Herein, we describe a 14-year-old girl who presented with anemia, failure to thrive, osteoporosis, zinc, and vitamin deficiency. She was diagnosed as localized mesenteric mixed type of Castleman disease. Her clinical findings improved after surgical excision of the mass.
Giris: Akut losemiden kurtulan cocuklarin uzun donem izlemlerindeki en buyuk sorun, kemoterapilere bagli gelisen organ toksisitesidir. Antrasiklin kullanimina bagli gelisen toksisite en onemli morbidite ve mortalite nedenlerinden biridir. Biz de klinigimizde son 10 yilda tani ve tedavi almis akut losemili olgularin, akut, erken ve gec donem antrasiklin toksisitesini degerlendirmek icin farkli zamanlarda yapilan ekokardiyografik (eko) verilerini inceledik.
Yontem:Calismamizda BFM-95 protokolune gore tedavi edilen 80 ALL’li, MRC-12 protokolune gore tedavi edilen 21 AML’ li olgunun tedavi oncesi (T0) ve tedavi sonrasi 3-6. aylar (T1), 6-12. aylar (T2), 12-24. aylar (T3) arasi ile 24. ay (T4) sonrasi farkli zamanlarda yapilan eko verileri ve risk faktorleri ile 21 saglikli kontrolun eko verileri kaydedildi.
Bulgular: Tedavi sonrasi hicbir olguda akut donemde kardiyak toksisite izlenmedi. Tedavi sonrasi erken donemde mitral E/A-velosite (vel), trikuspid E/A-vel degerlerinin kontrol grubu degerlerine gore azalmaya basladigi, tedavinin 1. yilindan sonra mitral E/A-vel, trikuspid E/A-vel, ejeksiyon fraksiyonu ve fraksiyonel kisalma parametrelerinde tedavi oncesi ve kontrol grubu degerlerine gore istatistiksel azalma saptanmistir (p<0.05). Uzun sureli izlemde toksisite gelisen %10-15 olgunun ise 550mg/m2 den fazla antrasiklin tedavisi alan ve relaps AML’li olgular oldugu tespit edilmistir.
Sonuc: Arastirmamiz, akut losemili olgularin uzun donem izleminde toksisite evrelemesinde kullanilan eko’nun halen ilk sirada tercih edilecek ucuz ve noninvaziv bir tetkik olduguna isaret etmektedir.
Inherited metabolic diseases are pathologic conditions that generally develop as a result of impairment of the production or breakdown of protein, carbohydrate, and fatty acids. Early determination of hematological findings has a positive effect on the prognosis of metabolic diseases. Three hundred eighteen patients who were being followed-up within the previous 6 months at Department of Pediatric Nutrition and Metabolism, Gazi University, Turkey, were included in the study. The hematological findings were classified under 7 main groups: anemia of chronic disease, iron deficiency anemia, vitamin B12 deficiency anemia, hemophagocytosis, leukocytosis, and thrombocytosis. Nine hundred twenty-two hematological examinations of the 319 patients were included in the study, and 283 hematological findings were determined, 127 anemia of chronic disease, 81 iron deficiency anemia, 56 cytopenia, and 4 vitamin B12 deficiency anemia. Leukocytosis (n=1), thrombocytosis (n=5), and hemophagocytosis (n=9) were also observed. It was determined that, although anemia of chronic disease and nutritional anemia are the most common hematological findings, these may be diagnosed late, whereas neutropenia, thrombocytopenia, pancytopenia, and hemostasis disorders may be diagnosed earlier. Our study is the most comprehensive one in the literature, and we think it would positively contribute to the monitoring and prognosis of congenital metabolic diseases.
Factor XI (FXI) deficiency is an autosomal bleeding disorder characterized by variable bleeding tendency. In the present study, the gene encoding FXI (F11) was analyzed by direct sequencing in 33 individuals belonging to 11 unrelated Turkish families, and the bleeding tendency was quantitatively assessed by means of a bleeding questionnaire in 27 individuals with low FXI clotting activity and/or mutated F11 gene. We identified 10 distinct mutations (five missense, three nonsense and two splice site), four of which were novel. No mutation was found in one family. Of the four novel mutations, homozygosity for a c.89T>C (p.Phe30Ser) mutation and compound heterozygosity for a c.646G>A (p.Asp216Asn) mutation with the known c.403G>T (p.Glu135*) type II Jewish mutation were associated with severe deficiency, whilst heterozygosity for the novel c.1655A>C (p.His552Arg) and c.1627G>A (p.Glu543Lys) mutations was associated with partial deficiency. p.Glu135* was found in 19% (5/27) of the mutated alleles. Bleeding score was positive in 57% (4/7) of individuals with severe and 39% (7/18) of those with partial deficiency. It was significantly correlated with clinical severity of bleeding (r = 0.43, P = 0.02), but not with FXI clotting activity (P > 0.05). There was no optimal cut-off level of the bleeding score that could predict FXI deficiency. We conclude that the spectrum of mutations found in this study reflects the genetic heterogeneity of FXI deficiency in the Turkish population. Quantitative assessment of the bleeding symptoms by a bleeding questionnaire seems to be useful for evaluating the severity of bleeding episodes, but it can not be recommended as a screening tool for FXI deficiency.
This study assessed whether glycosylated hemoglobin could be used as an index to distinguish between iron-deficiency anemia and thalassemia minor. Glycosylated hemoglobin was measured by high-pressure liquid chromatography in 40 β -thalassemia minor patients, 20 iron-deficiency anemia patients, and 38 healthy controls, all nondiabetic. Median glycosylated hemoglobin was lower in β -thalassemia minor than in the iron-deficiency and control groups (p =. 000). There was no difference between iron-deficiency patients and healthy controls (p =. 095). Glycosylated hemoglobin was not different in iron-replete and iron-deficient traits (p >. 05). A cutoff value of 5% has provided a sensitivity of 95% and specificity of 75.7% for distinguishing between these two entities. Positive and negative predictive value were 96.6 and 67.9%. These values were superior to the traditional discriminants' values calculated on the same individuals. Glycosylated hemoglobin could be useful in discriminating between iron-deficiency anemia and thalassemia minor. Further studies are needed, but the point that it can also be used when both conditions exist simultaneously seems to be clinically important.
