Search

Ewing sarcoma family of tumor is the second most common bone tumor in children and young adults, after osteosarcoma. Different chemotherapeutic regimens are used in treatment of relapsed/recurrent Ewing sarcoma. Promising results were achieved with combination of irinotecan and temozolomide. Our case was a 13-year-old female with relapsed Ewing sarcoma and after 12 cycles of irinotecan (20 mg/m2/10 days) and temozolomide (100mg/m2/5 days) treatment she had not any complaints, and her radiological lesions remained stable for 66 months. Irinotecan and temozolomide have been used successfully in treatment of relapsed/recurrent Ewing sarcoma, but there is a need for randomized prospective studies with larger patient groups for establishing the efficacy of this treatment protocol. [Cukurova Med J 2016; 41(4.000): 811-814]

Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by mutations in the ATP7B gene that encodes a P-type copper ATPase, ATP7B. In WD, a mutated dysfunctional ATP7B leads to a progressive accumulation of Cu in the liver and brain. Clinically, WND shows considerable phenotypic variability including fulminant hepatic failure, hemolysis, chronic liver disease, such as hepatitis and cirrhosis, and neuro-psychiatric disease with or without hepatic involvement. An 18 -year-old female patient who has the diagnosis of Wilson 's disease was referred from outside center for genetic counseling. The mutations p.M1169T was identified in the homozygous form., Wilson hastalığı bakır transportundan sorumlu P-tipi bakır ATPaz proteinini kodlayan ATP7B geni mutasyonunun sebep olduğu otozomal resesif geçişli bir hastalıktık. Wilson hastalığında mutant-işlevsiz ATP7B geni karaciğer ve beyinde ilerleyici bakır birikimine yol açar. Klinik olarak, Wilson hastalığı fulminan hepatik yetmezlik, hemoliz, kronik karaciğer hastalığı, hepatit ve siroz gibi, hepatik tutulumun eşlik edip etmediği nöropsikiyatrik hastalıkları içeren varyasyonlar gösterir. Dış merkezde Wilson hastalığı tanısı konulan 18 yaşındaki kadın hasta genetik danışmanlık için kliniğimize sevk edildi. Gendeki mutasyon p.M1169T homozigot formda saptandı.

WOS: 000360663100023 Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by mutations in the ATP7B gene that encodes a P-type copper ATPase, ATP7B. In WD, a mutated dysfunctional ATP7B leads to a progressive accumulation of Cu in the liver and brain. Clinically, WND shows considerable phenotypic variability including fulminant hepatic failure, hemolysis, chronic liver disease, such as hepatitis and cirrhosis, and neuro-psychiatric disease with or without hepatic involvement. An 18-year-old female patient who has the diagnosis of Wilson's disease was referred from outside center for genetic counseling. The mutations p.M1169T was identified in the homozygous form.