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    L - Carnitine and biochemical characteristics [Biyokimyasal özellikleri ile L - Karnitin]
    (2012) Yavuz H.; Kurto?lu F.
    Carnitine is a nutrient that helps the body turn fat into energy. It is produced by the body in the liver and kidneys and stored in the skeletal muscles, heart and brain. Usually, the body can make all the carnitine it needs. However, some organisms may be deficient in carnitine because their bodies cannot make enough carnitine or transport it into tissues so it can be used. Carnitine has been proposed as a treatment for many conditions because it helps reduce oxidative stress. Some of the conditions carnitine may help treat are serious, and it should be take the supplement under the supervision of doctor, as an adjunct therapy to conventional medicine. For other conditions, such as fatigue or improving exercise performance, protection of heart diseases, carnitine appears safe and seems to have positive effects.
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    Neuroblastoma in an infant with Down’s syndrome [Neuroblastoma in un bambino con sindrome di Down]
    (Mattioli 1885 S.p.A., 2014) Kose D.; Toy H.; Yıldırım M.S.; Yavuz H.; Koksal Y.
    Aim: In this study we show that Down’s syndrome may be accompanied by neuroblastoma. Patients and methods: A 15-month-old female infant with Down’s syndrome and congenital hypothyroidism was admitted to our hospital with abdominal distension. Abdomen ultrasound (US) and computed tomography (CT) revealed right abdominal mass. The level of urinary homovanillic acid was 498.2 mg/24 h (N: 2-7.4 mg/24 h), and the serum neuron specific enolase (NSE) level was 370 ng/mL (N: 4.7-17 ng/mL). Karyotyping revealed 47 XX+21 chromosome, consistent with the diagnosis of Down’s syndrome. Bone marrow aspirates revealed metastatic neuroblastoma. On the basis of these findings, the patient was diagnosed with stage IV neuroblastoma. The patient was treated as stage IV neuroblastoma according to our national neuroblastoma protocol which included 4 cycles of 2 different multidrug regimens and then the mass was totally removed. After the operation, two cycles of chemotherapy were administered. However, the patient died of pneumonia. Results: We here describe a case of Down’s syndrome associated with neuroblastoma. Conclusions: Neuroblastoma in Down’s syndrome is extremely rare. Although children with Down’s syndrome are protected by the S-100 b gene on chromosome 21, neuroblastoma can be seen in Down’s syndrome. © Mattioli 1885.
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    Urine darkening disease: Alkaptonuria [İdrarı Siyahlaşltıran Hastalık: Alkaptonüri]
    (Galenos Yayincilik,, 2010) Aslan E.; Yavuz H.
    Introduction: Alkaptonuria is a disease caused by deficiency of homogentisate 1-2 dioxygenase, which is associated with thyrosine metabolism in the liver. Deficiency of this enzyme is caused by mutation in homogentisic acid oxidase gene. This is a rare otosomal recessive disease. The most prominent symptom in childhood is darkening of urine in a few hours. Arthritis, ochronotic pigmentation in sclera and ear and degeneration of mitral or aortic valves are the characteristics of this disease, which are usually seen in older than thirty-year-old people. There is no curative therapy, but nitisinone is the only currently used drug in this disease. However, there is no definite information about when this treatment should be started how much time is needed for this treatment to be carried on, and what probable side-effects can occur. Case Report: We reported a 4-year-old girl patient diagnosed as alkaptonuria who had underclothes coloration and darkening urine. Conclusion: We aim to highlight to darkening urine which is the most encountered manifestation of alkaptonuria in childhood. Alkaptonuria may cause serious complications in the future. © The Journal of Current Pediatrics, published by Galenos Publishing.