Recurrent rhabdomyolysis and glutaric aciduria type I: a case report and literature review

Background

Glutaric acidemia type I (GA-I) is a rare metabolic disorder caused by mutation of the glutaryl- CoA dehydrogenase (GCDH) gene. The occurrence of rhabdomyolysis with GA-I is extremely rare.

Methods

We reported a child with recurrent rhabdomyolysis and undiagnosed glutaric acidemia type I (GA-I). And a literature review was performed.

Results

A 4.5-year-old girl was admitted to our hospital due to recurrent rhabdomyolysis for 3 times within three years. At the third admission, she was diagnosed with GA-I by biochemical testing and mutation analysis. The girl was found to have a serine to leucine replacement mutation of the GCDH gene in exon 8 at position 764. Other three patients with rhabdomyolysis and GA-I were discovered by literature searching.

Conclusions

This report highlights that patients with GA-I may have an increased risk of rhabdomyolysis.

     

臂丛神经改良切口全程松解术患者的术后护理

目的总结胸廓出口综合征行改良切口全程松解术患者的术后护理经验。方法对77侧胸廓出口综合征患者行改良切口全程松解术后患者,给予周密细致的体位护理、生活护理、疼痛护理,严密观察并发症,做好常规及专科护理,重视康复训练指导。结果患者手术均顺利,术后48h症状明显改善者68例,3例改善不明显,1例自觉症状加重。手术切口均一期愈合,无1例感染。患者平均住院11.8d。6个月有效随访49侧,功能优良率为87.76%。结论实施全面、系统的术后护理,注重心理护理及康复指导护理,可减少并发症的发生,保证手术效果。     

肝移植术后中期肝脏血流动力学与肝功能异常的关系

目的通过分析肝移植术后中期血流动力学的规律,探讨其与肝功能的关系。方法以2014年2月至2015年10月于青岛大学附属医院进行肝移植手术的56例肝移植受者为研究对象,按肝功能正常与否分为正常组(24例)和异常组(32例)。记录两组的一般资料及肝功能,并应用超声检测其肝移植术前及术后1、30、90 d的肝动脉峰值血流速度(HAP)、门静脉峰值血流速度(PVP)、门静脉灌注量(PVF)等,并计算肝动脉缓冲能力(BC)、校正BC等。对两组间肝脏血流动力学因素与肝功能关系进行单因素和多因素分析,并绘制受试者工作特征(ROC)曲线。结果异常组中移植术后30 d的PVP、PVF明显高于正常组(P=0.014、0.049),正常组中BC及校正BC明显高于异常组(P=0.048、0.011)。多因素分析显示校正BC是其独立危险因素(P=0.047),ROC曲线下面积(AUC)为0.705,灵敏度为0.652,特异度为0.750。结论肝移植术后30 d的PVP、PVF、BC及校正BC可能与肝功能异常有关,其中校正BC可作为诊断及干预肝功能异常的指标之一。     

Clinical analysis of thoracoscopic surgery combined with intraoperativeautologous blood transfusion in the treatment of traumatic hemothorax

From January 2013 to January 2015, 19 patients of traumatic hemothorax with hemorrhagic shock were treated in our department by thoracoscopic surgery combined with autologous blood transfusion. This study retrospectively analyzed the therapeutic effect and shared our experience. The average amount of blood transfused back was 662.41 ml ± 269.15 ml. None of the patients developed transfusion reaction and were all discharged uneventfully. Thoracoscopic surgery combined with autologous blood transfusion is effective in the rescue of patients with progressive hemothorax and hemorrhagic shock. When corresponding indications are well managed, treatment for these patients is quicker, safer, and more effective.     

Expression of Peroxiredoxins and Pulmonary Surfactant Protein A Induced by Silica in Rat Lung Tissue

正Silicosis is one of the most serious occupational diseases in China and dates back to centuries ago.In this study,we successfully established a rat model of silicosis by intratracheal silica injection for28 days and determined hydroxyproline levels to evaluate collagen metabolism in lung homogenates.Oxidative stress status was evaluated by detecting catalase and glutathione peroxidase activities.     

Down-regulation of beta1-adrenoceptors gene expression by short interfering RNA impairs the memory retrieval in the basolateral amygdala of rats

The influence of basolateral amygdala (BLA) on memory is known to depend critically on adrenergic neurotransmission. However, the roles of noradrenergic receptors on memory retrieval have been elusive and controversial. Here, we investigated the effect of beta(1)-adrenoceptor (beta(1)-AR) on auditory fear memory in the rat BLA. We attenuated the expression of beta(1)-AR by RNA interference, a popular means to specific suppress gene expression. Bilaterally microinjection of beta(1)-AR short interfering RNA (siRNA) could reach a satisfying transfection in the BLA: beta(1)-AR protein expression was reduced transiently by siRNA in vivo at day 3. The behavioral tests indicated that memory retrieval was impaired as beta(1)-AR protein expression was prevented, and the memory was restored when the beta(1)-AR protein got back to normal level. The results suggested that beta(1)-AR might be critical for the retrieval of auditory fear memory.     

Molecular characterization of the surface glycoprotein genes of an H5N1 influenza virus isolated from a human in Guangdong, China

Summary In March 2006, a human H5N1-infected case was found in Guangdong province, China. Here, we molecularly characterized the hemagglutinin (HA) and neuraminidase (NA) genes of the A/China/GD01/06 (GD01) strain causing the infection. The phylogenetic analyses suggested that the HA and NA genes of GD01 and recent human H5N1 viruses from different provinces of China were probably derived from a common ancestor and the H5N1 human infection was acquired directly from affected poultry. At the cleavage site of HA, GD01 contained multiple basic amino acids, a feature characteristic of highly pathogenic avian influenza A viruses. The virus possessed Gln222, Gly224, Ser223, Asn182, Gln192 residues adjacent to the receptor-binding site, preferential for recognizing SAα2, 3Gal. In addition, the GD01 NA amino acid sequence possessed Asn344 and Phe466, which might be related to the low-pH stability of the sialidase activity and gastrointestinal symptoms of the patient.