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Myeloproliferative neoplasms complicated withβ-thalassemia:Two case report
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作者 Neng-Wen Xu Lin-Jie Li 《World Journal of Clinical Cases》 SCIE 2022年第29期10655-10662,共8页
BACKGROUND BCR-ABL-negative myeloproliferative neoplasms(MPNs)are clonal hematopoietic stem cell disorders characterized by the proliferation of one or more myeloid lineages and by mutually exclusive JAK2 V617F,CALR,a... BACKGROUND BCR-ABL-negative myeloproliferative neoplasms(MPNs)are clonal hematopoietic stem cell disorders characterized by the proliferation of one or more myeloid lineages and by mutually exclusive JAK2 V617F,CALR,and MPL[A1]mutations.The combination of MPN and thalassemia is extremely unusual.Several cases with myeloproliferative neoplasms andβ-thalassemia have been reported.However,these have not been extensively reviewed.The present report describes two cases of myeloproliferative neoplasms complicated withβ-thalassemia and reviews all similar cases reported in the literature.CASE SUMMARY We report two patients who were diagnosed with myeloproliferative neoplasms complicated withβ-thalassemia.Both patients had abnormal increases in platelet counts.Based on bone marrow pathology and molecular biology assessment,we made the diagnosis of myeloproliferative neoplasms complicated withβ-thalassemia.The female patient was given hydroxyurea and interferon,which enabled good control of her blood counts;the male patient was given ruxolitinib tablets,thalidomide tablets,and interferon to control the condition,but the patient poorly responded to drug treatment and died of gastrointestinal bleeding six months later.CONCLUSION Given the findings of our cases and the literature review,we hypothesize that myeloproliferative neoplasms complicated withβ-thalassemia can lead to rapid disease progression and a poor prognosis. 展开更多
关键词 Myeloproliferative Neoplasms Β-THALASSEMIA Somatic gene mutation germline gene mutation Case report
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Experiments that led to the first gene-edited babies: the ethical failings and the urgent need for better governance 被引量:12
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作者 Jing-ru LI Simon WALKER +1 位作者 Jing-bao NIE Xin-qing ZHANG 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2019年第1期32-38,共7页
The rapid developments of science and technology in China over recent decades, particularly in biomedical research, have brought forward serious challenges regarding ethical governance. Recently, Jian-kui HE, a Chines... The rapid developments of science and technology in China over recent decades, particularly in biomedical research, have brought forward serious challenges regarding ethical governance. Recently, Jian-kui HE, a Chinese scientist, claimed to have "created" the first gene-edited babies, designed to be naturally immune to the human immunodeficiency virus(HIV). The news immediately triggered widespread criticism, denouncement, and debate over the scientific and ethical legitimacy of HE’s genetic experiments. China’s guidelines and regulations have banned germline genome editing on human embryos for clinical use because of scientific and ethical concerns, in accordance with the international consensus. HE’s human experimentation has not only violated these Chinese regulations, but also breached other ethical and regulatory norms. These include questionable scientific value, unreasonable risk-benefit ratio, illegitimate ethics review, invalid informed consent, and regulatory misconduct. This series of ethical failings of HE and his team reveal the institutional failure of the current ethics governance system which largely depends on scientist’s self-regulation. The incident highlights the need for urgent improvement of ethics governance at all levels, the enforcement of technical and ethical guidelines, and the establishment of laws relating to such bioethical issues. 展开更多
关键词 Jian-kui HE Human germline gene editing Human immunodeficiency virus (HIV) Clustered regularly interspaced short palindromic repeat (CRISPR)-Cas9 Ethical review
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