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Mutation analysis of KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2 genes in Chinese patients with long QT syndrome

DU Rong, TIAN Li, YUAN Guohui, LI Jin, REN Faxin, GUI Le, LI Wei, ZHANG Shouyan, KANG Cailian, YANG Junguo

《医学前沿（英文）》 2007年第1卷第3期页码 312-315 doi: 10.1007/s11684-007-0060-0

摘要： Long QT syndrome (LQTS) is the prototype of the cardiac ion channelopathies, which cause syncope and sudden death. Inherited LQTS is represented by the autosomal dominant Romano-ward syndrome (RWS), which is not accompanied by congenital deafness, and the autosomal recessive Jervell and Lange-Nielsen syndrome (JLNS), which is accompanied by congenital deafness. The LQTS-causing mutations have been reported in patients and families from Europe, North America and Japan. Few genetic studies have been carried out in families with JLNS from China. This study investigates the molecular pathology in four families with LQTS (including a family with JLNS) in the Chinese population. Polymerase chain reaction and DNA sequencing were used to screen for , , , and mutation. A missense mutation G314S in an RWS family was identified, and a single nucleotide polymorphism (SNP) G643S was indentified in the of the JLNS family. In this JLNS family, another heterozygous novel mutation in exon 2a was found in of the patients. Our data provide useful information for the identification of polymorphisms and mutations related to LQTS and the Brugada Syndrome (BS) in Chinese populations.

关键词： recessive Jervell LQTS-causing population autosomal dominant syndrome

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A ruptured recurrent small bowel gastrointestinal stromal tumour causing hemoperitoneum

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《医学前沿（英文）》 2015年第9卷第1期页码 108-111 doi: 10.1007/s11684-014-0344-0

摘要：

Hemoperitoneum is a rare and potentially life-threatening complication of GIST. We reported a 54-year-old man who developed disseminated intra-abdominal recurrence from a previously resected gastrointestinal stromal tumour (GIST) of the small bowel, and the patient presented with hemoperitoneum. Emergent debulking surgery was performed. A high dose imatinib was prescribed. Despite the presence of residual disease, the patient was well clinically 8 months after the operation. Even though, there is no evidence to support the routine use of debulking surgery in the management of GIST. In our patient, disease progression after second line targeted therapy and the absence of alternative treatment options for spontaneous rupture and hemoperitoneum prompted us to treat the patient aggressively. Resection of the ruptured GIST was carried out for control of bleeding and to prevent recurrent bleeding in this patient with good surgical risks. During the treatment decision-making, the patient’s general condition, the risk of surgery and the extent of dissemination were taken into consideration. In this patient who presented with spontaneous rupture of a small intestinal GIST, the novel use of targeted therapy and aggressive surgical treatment produced reasonably good survival outcome.

关键词： gastrointestinal stromal tumour hemoperitoneum small bowel GIST small bowel neoplasm imatinib