Claudin-6 is a single prognostic marker and functions as a tumor-promoting gene in a subgroup of intestinal type gastric cancer

Gastric Cancer - We aimed to identify novel tumor-promoting drivers highly expressed in gastric cancer (GC) that contribute to worsened prognosis in affected patients. Genes whose expression was...     

A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation

Rett syndrome (RTT) is a severe neurodevelopmental disorder typically affecting females. It is mainly caused by loss‐of‐function mutations that affect the coding sequence of exon 3 or 4 of methyl‐CpG‐binding protein 2 (MECP2). Severe neonatal encephalopathy resulting in death before the age of 2 years is the most common phenotype observed in males affected by a pathogenic MECP2 variant. Mutations in MECP2 exon 1 affecting the MeCP2_e1 isoform are relatively rare causes of RTT in females, and only one case of a male patient with MECP2‐related severe neonatal encephalopathy caused by a mutation in MECP2 exon 1 has been reported. This is the first reported case of a male with classic RTT caused by a 5‐bp duplication in the open‐reading frame of MECP2 exon 1 (NM_001110792.1:c.23_27dup) that introduced a premature stop codon [p.(Ser10Argfs*36)] in the MeCP2_e1 isoform, which has been reported in one female patient with classic RTT. Therefore, both males and females displaying at least some type of MeCP2_e1 mutation may exhibit the classic RTT phenotype.

     

Chest wall Castleman's disease: CT and MRI findings

Castleman's disease is an usually benign lymphoid tumor of uncertain etiology that generally appears as a solitary mediastinal mass. We present a case of Castleman's disease in the right chest wall of a 60-year-old woman. Magnetic resonance imaging showed a well-defined, oval mass that was early enhanced on T1-weighted images. The mass was diagnosed by percutaneous core needle biopsy with computed tomography guidance. The patient has remained well for 5 years without an increase in tumor size. We also summarize the international literature.     

小脑出血手术27例治疗体会

目的探讨小脑出血的临床治疗及手术时机选择。方法回顾性分析笔者所在医院神经外科2007年7月～2010年7月收治的手术治疗小脑出血患者27例,其中3例患者手术时已出现呼吸停止,双瞳散大。结果 27例患者只有1例患者死亡,其余26例治疗效果良好。结论小脑出血手术越早,效果越好。