肝动脉介入栓塞术治疗肝血管瘤患者疗效及血清GPDA、GP73和β2-MG水平变化*

目的 探讨肝动脉介入栓塞术治疗肝血管瘤患者的疗效及血清甘氨酰脯氨酸二肽氨基肽酶(GPDA)、高尔基体蛋白73(GP73)和β2-微球蛋白(β2-MG)水平的变化。方法 2017年1月～2019年1月我院肝病科收治的60例肝血管瘤患者被随机分为介入手术组30例和开腹肝切除术组30例,分别接受经肝动脉介入栓塞术或开腹肝切除术。术后,随访半年。采用ELISA法检测血清GPDA、GP73、β2-MG水平及肿瘤坏死因子-α(TNF-α)、肿瘤特异性生长因子(TSGF)和甲胎蛋白(AFP)水平。结果 介入手术组手术时间和术后住院时间分别为(84.7±21.9) min和(6.7±1.3)d,均显著短于开腹肝切除术组【分别为(126.8±60.5)min和(9.6±5.8)d,P<0.05】,术中出血量为(110.7±13.5)mL,显著少于开腹肝切除术组【(315.5±17.8)mL,P<0.05】;在术后1 w,介入手术组血清GPDA、GP73、β2-MG、TNF-α、TSGF和AFP水平分别为(62.6±9.8)U/L、(64.3±6.7)μg/L、(1.4±0.5)mg/L、(1.3±0.5)mg/L、(35.5±4.3)U/mL和(2.5±0.6)mg/L,均显著低于开腹肝切除术组【分别为(86.4±11.5)U/L、(112.2±9.3)μg/L,(2.3±0.9)mg/L,(2.1±1.2)mg/L,(61.3±9.8)U/mL和(4.7±0.8)mg/L,P<0.05】;介入手术组并发症发生率为13.3%,显著低于开腹肝切除术组(30.0%,P<0.05);在术后随访6 m,介入手术组总有效率为93.3%,显著高于开腹肝切除术组(80.0%,P<0.05)。结论 采用肝动脉介入栓塞术治疗肝血管瘤患者疗效较好,且可降低血清GPDA、GP73、β2-MG、TNF-α和TSGF水平,明显改善围术期手术相关指标,减少并发症的发生,具有较高的临床安全性。     

Acute enteritis associated with Coxsackievirus A19 in a kidney transplant patient

Diarrhea is a frequent complication after kidney transplantation, with an incidence rate between 22% and 51%. In many cases, the cause remains unknown. We describe here the first case, to our knowledge, of persistent diarrhea associated with Coxsackievirus A19 (CVA19) in a kidney transplant recipient. The patient was a 46‐year‐old man who received a deceased‐donor kidney. He experienced delayed graft function because of donor kidney donation after circulatory determination of death. Maintenance immunosuppression consisted of low‐dose cyclosporine, high‐dose mycophenolate mofetil (MMF) (3 g/day), and prednisone (10 mg/day). He had severe diarrhea for 2 weeks associated with acute renal failure. No pathogens were found in the stool cultures. Enterovirus detection was positive by real‐time polymerase chain reaction, and sequence analysis found CVA19 (from Enterovirus C group). Area under the curve of MMF was 48 mg.h/L. Because of the persistence of diarrhea, MMF was stopped and replaced by azathioprine. The diarrhea disappeared, but serum creatinine did not return to baseline. CVA19 rarely causes gastroenteritis. This case illustrates that MMF is not always the direct cause of diarrhea, and that new clinical infectious diseases will be detected with the expansion of molecular‐based DNA diagnostics.     

Evidence for clinical,genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) is a recently delineated, autosomal recessive condition caused by rare mutations in the N‐acylsphingosine amidohydrolase 1 (acid ceramidase) ASAH1 gene. It is characterized by motor neuron disease followed by progressive myoclonic seizures and eventual death due to respiratory insufficiency. Here we report an adolescent female who presented with atonic and absence seizures and myoclonic jerks and was later diagnosed as having myoclonic‐absence seizures. An extensive genetic and metabolic work‐up was unable to arrive at a molecular diagnosis. Whole exome sequencing (WES) identified two rare, deleterious mutations in the ASAH1 gene: c.850G>T;p.Gly284X and c.456A>C;p.Lys152Asn. These mutations were confirmed by Sanger sequencing in the patient and her parents. Functional studies in cultured fibroblasts showed that acid ceramidase was reduced in both overall amount and enzymatic activity. Ceramide level was doubled in the patient's fibroblasts as compared to control cells. The results of the WES and the functional studies prompted an electromyography (EMG) study that showed evidence of motor neuron disease despite only mild proximal muscle weakness. These findings expand the phenotypic spectrum of SMA‐PME caused by novel mutations in ASAH1 and highlight the clinical utility of WES for rare, intractable forms of epilepsy.