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ニホンザル 餌を得るため2匹が協力 初めて確認か 阪大が実験 (NHK)

2匹のニホンザルが餌を獲得するために互いに協力して行動できることを大阪大学の研究グループが実験で確認し、ニホンザルの新たな側面として注目されています。 実験を進...

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Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia.

著者 Kim EA , Lim YT , Hah JO , Sohn YB , Kim YK , Choi JH , Kim SY , Jang KM , Ahn J , Lee JM
Int J Hematol.2018 Nov 19 ; ():.
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Gaucher disease (GD) is caused by a hereditary deficiency of glucocerebrosidase, resulting in accumulation of glucosylceramide and potentially manifesting as hepatosplenomegaly. We report the case of a 15-month-old boy with chronic neuronopathic GD. The patient had prolonged anemia despite continued iron supplementation for 3 months. White blood count (WBC), hemoglobin (Hb), platelet count, and corrected reticulocyte count were 3,300 /µL, 8.7 g/dL, 90,000 /µL, and 0.55, respectively. The patient had microcytic hypochromic anemia with mildly elevated ferritin. Physical examination revealed hepatosplenomegaly. Bone-marrow aspiration showed sheets of Gaucher cells. Glucocerebrosidase activity in monocytes was significantly lower than normal. Genetic analysis revealed a homozygous L444P mutation of GBA, and he was diagnosed with type 1 GD. Enzyme replacement treatment (ERT) consisting of imiglucerase was initiated and was effective; WBC, Hb, and platelet count gradually normalized and the hepatosplenomegaly improved. However, when the patient entered elementary school, he showed mild impaired cognitive function, and supranuclear gaze palsy occurred the same year. He was ultimately diagnosed with type 3 GD and continued ERT. Pediatric hemato-oncologists should be aware of GD, especially when patients exhibit anemia refractory to iron therapy, radiologic bone deformity, neurologic signs or symptoms, and growth retardation.
PMID: 30456712 [PubMed - as supplied by publisher]
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