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Objective: Neuroblastoma is one of the common tumors of childhood. The demonstration of new factors such as isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) mutations will be important in the diagnosis and treatment. IDH1 and IDH2 mutations have been found in many types of cancer, such as malignant gliomas, acute myeloid leukemias, chondrosarcoma, and thyroid carcinoma. This study aimed to investigate the presence of IDH1 or IDH2 mutations in patients with neuroblastoma and to determine whether these mutations were different in terms of age, clinical findings, and response to treatment. Methods: Biopsy specimens of 25 patients with pediatric neuroblastoma patients were evaluated for IDH mutations. The clinical and laboratory features of the patients with/without mutation were retrospectively analyzed from a hospital database. Results: A total of 25 patients for whom genetic analysis could be performed were included in the study (60% male, n=15). The mean age was 32.2±25.9 months (3 days-96 months). IDH1 mutation was detected in 8 (32%) and IDH2 mutations in 5 (20%) patients. These mutations showed no statistically significant relationship with age, tumor localization, laboratory results, stage, and prognosis. However, in the case of IDH mutation, patients were diagnosed at the advanced stage. Conclusions: This study demonstrated the relationship between neuroblastoma and IDH mutation for the first time. Because to the fact that the mutation is very heterogeneous, it would be appropriate to conduct a larger series of patients in terms of the impact of the clinical significance of each mutation on the diagnosis and prognosis.
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AIM: To identify the psychosocial and economic problems of the pediatric patients with cancer who were treated at the Dr. Sami Ulus Obstetrics and Gynecology and Child Health and Diseases Training and Research Hospital's Pediatric Oncology Department and their relatives during this process. MATERIAL AND METHODS: We interviewed a total of 100 patients who were treated at Dr. Sami Ulus Obstetrics and Gynecology and Child Health and Diseases Hospital's Pediatric Oncology Department between 1996 and 2015, and were now followed up without treatment and their relatives using survey questions on the psychosocial and economic problems they experienced. RESULTS: Most of patients were from provinces outside Ankara. The average monthly income was below the level that would meet the family needs in 80% of the families and only 16% had extra income. Additional economic support had been received by 93% of the families in the patient group. Twenty-five families (25%) had been forced to sell property during the treatment. Forty-nine (49%) families had borrowed money from acquaintances and relatives or had taken out a bank loan. Serious psychological problems were experienced during and after the treatment by 46% of the mothers; 41% of the families had used religious procedures more commonly during the treatment period to cope with the psychological problems. Education was subject to a 1-2 year pause in 83% of the patients. CONCLUSION: Childhood-age patients with cancer and their families experience significant psychosocial and economic problems during and after the treatment process. Providing medical treatment and psychosocial support in harmony is an important factor that increases the success of cancer treatment. The patient and the family will require psychosocial support mechanisms throughout life, starting from the moment they face the disease. Developing national social support programs and legal regulations to form a basis for such programs are required in our country.
AMAÇ: Dr. Sami Ulus Kadin Dogum ve Çocuk Sagligi ve Hastaliklari Egitim ve Arastirma Hastanesi Çocuk Onkoloji Klinigi'nde tedavi edilmis kanserli çocuk hastalarin ve yakinlarinin bu süreçte karsilastiklari psikososyal ve ekonomik sorunlari belirlemek. GEREÇ VE YÖNTEMLER: Dr. Sami Ulus Çocuk Sagligi ve Hastaliklari Hastanesi Çocuk Onkoloji Klinigi'nde 19962015 yillari arasinda tedavi görmüs ve su anda hastaliksiz olarak izlemde olan toplam 100 hasta ve yakini ile görüsülerek yasadiklari psikososyal ve ekonomik sorunlara iliskin anket sorulari yönlendirildi. BULGULAR: Hastalarimizin çogu Ankara disi illerden gelmekte idi. Hasta ailelerinin %80'inin ortalama aylik gelirinin ailenin gereksinimlerini karsilama düzeyinin altinda oldugu ve sadece %16'sinin ek geliri oldugu saptandi. Hasta grubunda ailelerimizin %93'ü ek ekonomik destek almislardi. Yirmi bes aile (%25) tedavi süresince sahip olduklari bazi mal varliklarini satmak zorunda kalmisti. Kirk dokuz (%49) aile tanidik ve akrabalarindan borç almisti ya da bankadan kredi çekmisti. Annelerin %43'ünün tedavi sirasinda ve sonrasi ciddi psikolojik sorunlar yasadigi, psikolojik sorunlarla basa çikabilmek için ailelerin %40'inda tedavi döneminde dini ibadetlere egilimde artis oldugu gözlendi. Hastalarimizin %83'ünün egitimlerinde 12 yil gibi bir kayip yasandigi görüldü. ÇIKARIMLAR: Çocukluk çagi kanser hastalari ve aileleri tedavi sürecinde ve sonrasinda önemli oranda psikosoyal ve ekonomik sorunlar yasamaktadir. Kanserde, tibbi tedavi ile psikososyal destegin bir uyum içerisinde yürütülmesi tedavi basarisini artiran önemli bir etmendir. Hastanin ve ailesinin hastalikla tanistigi ilk andan baslayarak tüm hayat boyunca psikososyal destek mekanizmalarina gereksinim vardir. Ülkemizde ulusal olarak bu yönde gelistirilecek sosyal destek programlari ve bu programin yürütülecegi zemini olusturacak yasal düzenlemelere gereksinim vardir.
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BACKGROUND: Vitamin D receptor (VDR) polymorphisms have been studied in immune-mediated disorders, but not yet in immune thrombocytopenic purpura (ITP). We investigated whether VDR variants were associated with ITP in children. METHODS: The study included 44 children with a diagnosis of ITP and 100 healthy controls. Five VDR polymorphisms (Cdx-2, FokI, BsmI, ApaI and TaqI) were genotyped and used to evaluate the association of VDR variants with ITP. RESULTS: The distribution of the three Cdx-2 genotype groups (GG, GA, and AA) was significantly different between ITP patients and controls (P = 0.025); the homozygous GG genotype of Cdx-2 was overrepresented in ITP patients. The frequency of the A allele of Cdx-2 was significantly different between patients and controls (P = 0.01). The A allele of Cdx-2 was associated with a decreased risk of ITP (OR, 0.343; 95% CI: 0.150-0.782). No statistically significant difference was found between the ITP group and control group for Fok1, Bsm1, Apa1, and Taq1 polymorphisms (P > 0.5). CONCLUSION: There appears to be an interaction between the Cdx-2 variant of VDR and childhood immune thrombocytopenia.
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Polimorfismo de Nucleotídeo Único , Púrpura Trombocitopênica Idiopática/genética , Receptores de Calcitriol/genética , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Marcadores Genéticos , Genótipo , Técnicas de Genotipagem , Humanos , Lactente , MasculinoRESUMO
The methylenetetrahydrofolate reductase (MTHFR) gene plays a key role in carcinogenesis through its effects on DNA synthesis and methylation and also has a significant role in the etiology of many disorders, such as diabetes, migraine, and cardiovascular disease. Neurofibromatoses (NF) are autosomal dominant inherited diseases that can affect tissues such as bone and skin and predispose individuals to tumor development in various parts of the nervous system or body. Optic nerve glioma and brain tumors are common in children with NF, and leukemia and lymphoma incidence is also higher than normal. We therefore aimed to investigate the possible relationship between the MTHFR gene polymorphism and accompanying tumors such as neurofibroma, hamartoma, and optic glioma in children with NF1 found to have the MTHFR 677 and MTHFR 1298 gene polymorphism in this study. We included 55 pediatric patients diagnosed with NF1 between 2005 and 2014 in the study group. The control group included 44 healthy subjects without acute or chronic disease findings. A significant relationship was found between the MTHFR A1298C polymorphism and the incidence of optic glioma (p=0.014) (AA vs. AC: OR 11, 95% CI 1.27-95.17; AA vs. CC: OR 7.33, 95% CI 0.35-150.70). We also found a significant relationship between the MTHFR C1298C polymorphism and the incidence of hamartoma (p=0.019) (AA vs. AC: OR 2.12, 95% CI 0.662-6.809; p=0.203). Epilepsy incidence was high in subjects with MTHFR C677C. The MTHFR A1298C, C1298C, and C677C gene polymorphisms can be associated with a higher optic glioma, hamartoma, and epilepsy incidence, respectively, in patients diagnosed with neurofibromatosis type 1.
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Hamartoma/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Neurofibromatose 1/genética , Glioma do Nervo Óptico/genética , Adolescente , Criança , Pré-Escolar , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Lactente , Masculino , Polimorfismo Genético , RiscoRESUMO
Background. Trichosporon asahii is an opportunistic fungus that causes infections in immunosuppressed patients. Neutropenia developing due to malignancies is an important risk factor for fungal infection. Case Report. We present two pediatric oncology cases successfully treated with voriconazole after T. asahii infection that is known to cause fatal sepsis and invasive fungal infection. Conclusion. There is no conclusive evidence that the antifungal agent voriconazole is effective in the neutropenic patients infected with Trichosporon asahii. Liposomal amphotericin B has also been reported to be inadequate for treatment. We believe that our patients were successfully treated and survived because the antifungal agents were started early and properly, although the infection can be fatal in up to 80% of cases despite treatment.
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OBJECTIVE: To evaluate the effectiveness and safety of sirolimus therapy in a child with macroglossia due to lymphatic malformation. METHODS: Sirolimus treatment was applied to the patient with an initial dosing of 0.8 mg/m2 per dose, administered orally, twice daily at approximately 12-hour intervals. RESULTS: After 9 months of sirolimus therapy, there was a nearly complete resolution of lymphatic malformation. The last evaluation was performed 6 months after withdrawal of treatment, and the lesion had almost completely resolved. CONCLUSION: This article presents a novel approach to the treatment of lymphatic malformation of the tongue using sirolimus, which appears to be safe and effective for the management of complex cases.