Serum lipids in Turkish patients with β-thalassemia major and β-thalassemia minor

It is well-known that β-thalassemia is associated with changes in plasma lipids and lipoproteins [1,2,3]. To our knowledge, no data are available on lipid profiles in Turkish β-thalassemia major (TM) and β-thalassemia trait (TT) patients together. The aim of this study was to evaluate lipid profiles in two groups of patients with β-TM and β-TT and to compare them with healthy controls. The study included a total of 311 subjects. Group 1 included 131 β-TM patients (mean age: 16.3±7.58 years). Group 2 included 68 β-TT patients (mean age: 7.25±4.43 years). Group 3 consisted of 112 age- and sex-matched healthy controls (mean age: 9±4.7 years). Serum ferritin level was 2487±1103 (range: 661-5745) ng/mL in Group 1. In comparing the correlation between ferritin and lipid parameters, while a significantly negative relationship was detected between ferritin and highdensity lipoprotein cholesterol (HDL-C) (p=0.000, r=-0.602), a significantly positive relationship was detected between ferritin and triglyceride (TG) levels (p=0.02) in TM patients. Serum lipid profiles of the 3 groups are shown in Table 1

A hemophagocytic lymphohistiocytosis case with newly defined UNC13D (C.175G>C; p.Ala59Pro) mutation and a rare complication

Hemophagocytic lymphohistiocytosis (HLH) represents a severe hyperinflammatory condition with cardinal symptoms of prolonged fever, cytopenias, hepatosplenomegaly, and hemophagocytosis by activated, morphologically benign macrophages with impaired function of natural killer cells and cytotoxic T lymphocytes. A 2-month-old girl, who was admitted with fever, was diagnosed with HLH and her genetic examination revealed a newly defined mutation in the UNC13D (c.175G>C; p.Ala59Pro) gene. She was treated with dexamethasone, etoposide, and intrathecal methotrexate. During the second week of treatment, after three doses of etoposide, it was noticed that there was a necrotic plaque lesion on the soft palate. Pathologic examination of debrided material in PAS and Grocott staining revealed lots of septated hyphae, which was consistent with aspergillosis infection. Etoposide was stopped and amphotericin B treatment was given for six weeks. HLH 2004 protocol was completed to eight weeks with cyclosporine A orally. There was no patient with invasive aspergillosis infection as severe as causing palate and nasal septum perforation during HLH therapy. In immuncompromised patients, fungal infections may cause nasal septum perforation and treatment could be achieved by antifungal therapy and debridement of necrotic tissue. © 2015 Turkish Society of Hematology. All rights reserved

Hemophagocytic syndrome due to leishmania infection diagnosed with immunofluorescence antibody test

Leishmaniasis is a reticuloendothelial system disease that mostly observed before the age of 5. Visceral infection causes long-standing fever, weight loss, weakness, pancytopenia, and hepatosplenomegaly. Leishmania infantum is responsible for visceral leishmaniasis (VL) in Turkey. We present a case of hemophagocytic syndrome due to Leishmania infection diagnosed with an immunofluorescence antibody test (IFAT). Leishmania amastigotes were not observed on bone marrow aspiration. We consider that IFAT is very important for parasite detection in the diagnosis of VL in children, particularly when amastigotes are not obtained on bone marrow aspiration

Evaluation of visceral leishmaniasis diagnosis using indirect fluorescent antibody tests in 4 pediatric patients.

Visceral Leishmaniasis (VL) in infancy is mostly seen between the ages of 2-4,and visceral infection causes long standing fever, weakness, weight loss, hepatosplenomegaly and pancytopenia. Leishmania infantum is responsible for VL in Turkey. In this study, 4 pediatric cases of VL were analysed retrospectively. Bone marrow aspirate was obtained in two cases and Leishmania amastigotes were not obtained in these cases. Leishmania antibodies by the indirect immun fluorescent antibody test (IFAT) were positive in all cases. We consider that IFAT was a suitable alternative to parasite detection in the conclusive diagnosis of visceral leishmaniasis in pediatric patients when strong clinical suspicion is present

Mikofenolat mofetil ile remisyon sağlanan steroide dirençli otoimmün hemolitik anemi

Autoimmune hemolytic anemia (AIHA) is a disease that is seen in 1/10.000 people and characterized by forming antibodies against red blood cells and degradation of these red blood cells in reticuloendothelial system. Even autoimmune diseases can accompany, it is seen usually idiopathic. Paleness due to anemia, jaundice, tachycardia, darkening in urine color, hepatosplenomegaly are frequently seen clinical findings. Clinically normochrome and normocytic anemia, reticulocytosis, polychromasia in peripheral smear, spherocytes, indirect hyperbilirubinemia and increased lactate dehydrogenase are seen. Direct coombs test is the diagnostic test. Steroids are the first line drugs in treatment. The dosage and the treatment duration is formed according to patient's clinical situation. The treatment is checked by complete blood count, reticulocyte and Coombs test. Immunosuppressor treatments are given to patients that don't respond to treatment in 4-6 weeks or less patients who has recurrence at the time of decreasing the treatment dosage of corticosteroids. In few patient, that did not respond steroids, immunosuppressive treatments are used. Here, we present a patient, who is diagnosed with AIHA that we couldn't manage remission by steroid treatment, and no response to rituxumab as an immunosuppressor, but treated successfully with microphenolat mofetil

Abdominal ultrasonographic findings in patients with thalassemia

AMAÇ: Bu çalışmanın amacı, Denizli Devlet Hastanesi Talasemi Merkezinde izlenen talasemi major ve talasemi intermedia hastalarının rutin abdominal ultrasonografik incelemeleri seyrinde görülen hepatosplenomegali dışındaki abdominal solid organlar ile ilgili bulgularını değerlendirmektir. GEREÇ veYÖNTEMLER: Bu çalışmaya, 73'ü talasemi major, 5'i talasemi intermedia olmak üzere, yaşları 2 ile 30 yıl arasında, 40 kız, 38 erkek hasta alınmıştır. BULGULAR: Safra kesesinde taş ve çamur (%8.9) en sık görülen bulgu idi. Aksesuar dalak 6 hastada (%7.7), karaciğerde ekojenite artısı 2 hastada (%2.6), karaciğerde hemanjiom 1 hastada(%1.3), portal ven trombozu 1 hastada(%1.3) saptandı. Bir talasemi major hastasında, bilateral renal kist ve sag renal tas ve beraberinde safra kesesinde taş görüldü. SONUÇ: Talasemi hastalarında abdominal ultrasonografik inceleme, komplikasyonların önlenmesi ve etkili klinik izlem için düzenli aralıklar ile yapılmalıdır.OBJECTIVE: The aim of this study was to evaluate the type and prevalance of abdominal ultrasonographic abnormalities except hepatosplenomegaly in patients with thalassemia major and thalassemia intermedia. MATERIAL and METHODS: Seventy-eight patients; 73 thalassemia major, 5 thalassemia intermedia followed in Denizli State Hospital Thalassemia Center were included in the study. The patients' ages ranged from 2 to 30 years, with 40 females, 38 males. RESULTS: The most frequent ultrasonografic findings were cholelithiasis (8.9%), accesory spleen (7.7%), hepatic grade I-II echogenity (2,6%), hepatic hemangioma (1.3%) and portal vein thrombosis (1.3%). One case was diagnosed with polycystic kidney disease with coexisting nephrolitiasis and cholelithiasis. CONCLUSION: Abdominal ultrasonographic imaging of patients with thalassemia patients should be done regularly to prevent complications and for effective clinical observation

The seroprevalance and vaccination status of Hepatitis B in children 1-6 years of age in Denizli Province

AMAÇ: Bu çalışmanın amacı Denizli ilinde, 1-6 yas arası çocuklarda, HBsAg seroprevalansı, anti-HBs sıklıgı ve hepatit B aşılanma durumunu araştırmaktır. GEREÇ ve YÖNTEM: Çalışmaya alınan çocukların hiçbirinde kronik hastalık ve immun yetmezlik yoktu. Hepatit belirleyicileri (HBsAg, anti-HBs, anti-Hbc) 545 çocukta ELISA yöntemi ile tarandı. Ayrıca çocukların anne ve babasının Hepatit B infeksiyon durumu sorgulandı ve kayıt edildi. BULGULAR: Çalışmamızdaki 545 çocuğun 314 (%57.6)'sı kız, 231 (%42.4)'i erkek olup, ortalama yas 3.9±1.2 (2-6) yıl idi. 475 (%87.1) çocukta anti-HBs pozitifliği, 58 (%10.6) çocukta HBsAg ve anti HBs negatifliği, 12 (%2.3) çocukta HBsAg pozitifliği saptandı. SONUÇ: Tüm çocuklar içinde aşılanma oranı %84.9 olarak bulundu. Sonuçta, 1-6 yas arası çocukların aşılanmasının önemine dikkat çekilmiştir.OBJECTIVE: The aim of this study was to investigate seroprevalence of HBsAg and frequency of anti-HBs positivity and hepatitisBvaccination status in children, 1- 6 years of age, in Denizli province. MATERIALS and METHODS: None of the children had chronic diseases and immun deficiency. In 545 children, Hepatitis markers (HBsAg, anti-HBs, anti-Hbc) were screened by ELISA method. We questioned Hepatitis-B infection of parents. RESULTS: Of 545 patients, 314 (57.6%) were male, 231 (42.4%) were female, mean age was 3.9±1.2 (2-6) years. We found anti-HBs positivity in 475 (87.1%) children. 58 (10.6%) children had anti-HBs and HBsAg negativity. 12 (2.3%) children hadHBsAg positivity. CONCLUSION: The rate of vaccination in all children was found 84.9% (463 children). Importance of vaccination of 1-6 years of age was emphasized

Patients who developed osteonecrosis during the treatment of acute lymphoblastic leukemia

Osteonekroz; çocuklarda akut lenfoblastik lösemi tedavisi sırasında veya sonrasında nadir görülen fakat ciddi sorunlara yol açabilen bir komplikasyondur. Yapılan çalışmalarda ALL tedavisi alan çocuklarda semptomatik osteonekroz insidansı %1,6-9,3 olarak bulunmuştur. Yüksek doz steroid tedavisi en önemli risk faktörüdür. Osteonekrozis fizyopatolojisi tam olarak açıklanamamıştır. Kortikosteroidlerin, sinüzoidal venlerdeki tromboembolilere bağlı mekanik tıkanmaya neden oldukları bunun sonucunda kan akımının azalmasıyla birlikte hipoksiye bağlı olarak osteoblast aktivitesinin azalıp, osteoklast aktivitesinin artmasıyla oluştuğu düşünülmektedir. Osteonekroz tanısında manyetik rezonans görüntüleme erken dönemde en duyarlı tanı yöntemidir. Burada ALL tanısıyla takip edilirken idame tedavisi sırasında osteonekroz gelişen 15 ve 14 yaşlarında 2 kız hasta sunulmuştur.Osteonecrosis is a rare and serious complication that can be developed during or after treatment for acute lymphoblastic leukemia (ALL). The incidence of symptomatic osteonecrosis related to ALL treatment is 1.6-9.3%. High-dose steroid therapy is the major risk factor for osteonecrosis. The pathophysiology is unclear. It is thought that osteonecrosis occurs due to steroid use causing thromboembolism in sinusoidal veins leading to hypoxia resulting in decreased osteoblast activity and increased osteoclast activity. Magnetic resonance imaging is the most sensitive diagnostic method in early period. We present two girls, 15 and 14-year-old, in whom osteonecrosis developed during ALL maintenance therapy

Our results of the hearing screening

Isitme kayıpları yenidoganlarda sosyal, duygusal ve zihinsel gelisimi olumsuz yönde etkilemektedir. Konusma ve dil gelisiminin olumsuz yönde etkilenmemesi için isitme kaybı olan yenidoganların erken dönemde tanınması büyük önem arz etmektedir. Erken dönemde tanı konup tedavisine baslanan çocuklarda konusma ve dil gelisimi, isitmesi normal olan çocukların konusma ve dil gelisimine paralel olmaktadır. Bu çalısmada 2005 2008 yılları arasında 19.464 yenidogana TEOAE (Transient Evoked Otoacoustic Emissions) testi ve ABR (Auditory Brainstem Response) testi kullanılarak isitme taraması yapılmıstır.Testler üç asamalı olarak gerçeklestirilmistir. Ilk ölçümlerde TEOAE testini geçemeyen bebeklere, 15 gün sonraki kontrolde TEOAE testi tekrarlanmıstır. TEOAE testini geçemeyen bebeklerABR testi ile degerlendirilmistir.ABR testinde 18 (%0,1) yenidoganda ileri derecede sensörinörinal isitme kaybı saptanmıstır. Isitme kayıplı yenidoganların tanınmasında isitme tarama testleri büyük öneme sahiptir.The hearing loses affect social, sentimental and mental developments of the newborns negatively. It has great importance to recognize the newborns with hearing loss in the early period in order not to have negative effects on speech and language development. The speech and language development in the children whose treatment has begun is paralel to the speech and language development of the children whose speech and language development is normal.. In this study, the hearing screening was made to 19.464 newborns using TEOAE and ABR tests between 2005-2008. To the newborns who failed the TEOAE test at first measurement the test was re-applied after fifteen days. The newborns who had failed the TEOAE test were evulated by ABR test. In 18 newborns (0.1%) sensorineural hearing losses have been diagnosed. The hearing screening tests have great importance in the recognition of newborns with hearing loss

The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study

IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.MethodsThis multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.ResultsOverall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001).DiscussionQuestioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial RegistrationClinicaltrials.gov NCT04120168