超声检查对先天性胆管囊状扩张症的诊断价值

目的探讨超声诊断先天性胆管囊状扩张症的价值。方法回顾性分析50例先天性胆管囊状扩张症患者的临床资料,分析超声检查对其的诊断价值。结果 50例先天性胆管囊状扩张症患者超声正确诊断48例,诊断符合率96.0%,误诊2例,1例Ⅰ型患者误诊为胰腺囊肿,1例Ⅴ型患者误诊为多发肝囊肿。44%患者合并结石,2%患者合并癌变,30%患者合并胆囊炎、胆囊结石。结论超声诊断先天性胆管囊状扩张症具有较高的诊断准确率,在诊断过程中为避免误诊、漏诊应注意鉴别诊断。     

先天性冠状动脉瘘的诊断与治疗(附34例报告)

目的:总结分析34例先天性冠状动脉瘘(CAF)的临床诊断治疗与外科手术方法。方法:回顾性分析应用超声心动图、64层螺旋CT、选择性冠状动脉造影等检查确诊的34例CAF患者的临床资料,其中24例为单纯性CAF,10例合并其他心脏外科疾病。结果:34例中5例直接行动脉瘘切线缝合术,其余29例均在体外循环直视下行瘘口修补并同时矫治合并心脏疾病。心腔内发现2瘘口1例,4瘘口1例,其他均为单一瘘口。所有患者术毕效果明显,无一例死亡,超声心动图复查均无残余瘘存在。22例随访0.5~3年无死亡及并发症发生。结论:64层螺旋CT检查可准确显示各种CAF的起源、行程、引流部位及并发异常,显示冠状动脉近段管腔的形态及一些较大冠状动脉瘘,是一种较为理想的无创性诊断CAF的影像方法。CAF明确诊断后,及时行外科手术治疗安全可靠,少数患者可行介入治疗。     

CT在胃底贲门部肿块诊断中的应用价值

目的：提高对CT在胃底贲门部肿块诊断重要性的认识。材料与方法：回顾性分析经手术病理证实32例及经临床、胃镜，钡餐检查证实22例胃底贲门部肿块的CT表现。结果：引起胃底贲门部肿块的疾病有癌肿21例、静脉曲张14例、间叶组织肿瘤11例、食管裂孔疝8例。其CT表现癌肿胃壁不规则增厚呈肿块状并有不同程度的强化；静脉曲张平扫可见肿块，增强肿块呈血管样强化；间叶组织肿瘤肿块呈圆形、椭圆形及分叶状，密度均匀及肿块内有时可出现气液平，良性常呈圆形、椭圆形直径多小于5cm，恶性常呈分叶直径多大于6cm。强化均明显；食管裂孔疝肿块较大，边缘光整，可见气体影；淋巴瘤其壁较厚，肿块也可较大等。结论：CT对于胃底贲门部肿块的诊断与鉴别诊断有着重要的价值。     

体位干预护理对疝手术患者术后非切口疼痛以及腹胀的影响分析

目的探讨体位干预护理对疝手术患者术后非切口疼痛以及腹胀的影响。方法选择本院进行疝手术的患者198例,随机分为观察组和对照组,对照组实施常规护理,观察组在对照组基础上进行体位护理干预。对2组患者术后非切口疼痛及腹胀发生情况进行分析。结果观察组患者排气时间、肠鸣音恢复时间和胃肠蠕动开始时间显著短于对照组(P0.05)。观察组非切口痛发生率、腹胀发生率显著低于对照组,护理总体满意度显著高于对照组(P0.01)。结论体位干预护理能够显著降低疝手术患者术后非切口疼痛以及腹胀的风险,改善患者胃肠功能,提高护理满意度,可在临床推广应用。     

Devastating salt‐wasting crisis in a four‐month‐old male child with congenital adrenal hyperplasia,highlighting the essence of neonatal screening

Congenital adrenal hyperplasia (CAH) is a rare condition usually referred to as a group of genetic disorders resulting due to a deficiency of steroid enzymes required by adrenal glands to produce cortisol and mineralocorticoid hormones. It has an autosomal recessive mode of inheritance and is further categorized into two types—Classic and Non‐Classic. Non‐Classic CAH is a more common milder form that presents late after puberty. Classic CAH, although more severe, is rare and detected at birth and is associated with the life‐threatening adrenal crisis in both sexes and virilization of the external genitalia in females (46, XX) patients, whereas in males, no overt abnormality of the external genitalia is present. We present a case of a four‐month‐old male child with the classic form of CAH who was brought with complaints of loose stools, projectile non bilious vomiting, decreased urine output, and failure to feed for 3 days. The child had a clinical presentation of salt wasting with hypoglycemia and hyperpigmentation of his genitalia. The USG findings revealed increased anteroposterior diameter of renal pelvis indicative of a growth in the suprarenal area. 17‐hydroxyprogesterone (17‐OHP) was found to be elevated confirming the diagnosis. He was treated with hydrocortisone with gradual improvement in his glucose and electrolytes. The patient was discharged home on replacement therapy consisting of oral prednisolone and fludrocortisone acetate and followed up as outpatient with significant improvement in the clinical findings. The fact that the child was not screened for CAH at birth led to the critical consequences of the disease in this case. To prevent life‐threatening adrenal crisis and help perform appropriate sex assignments for affected female patients, newborn screening (NBS) programs for the classical form of CAH should be made mandatory even in low‐ and middle‐income countries.     

MRI在小儿先天性肛门直肠畸形诊断中的应用及准确性分析

目的探讨小儿先天性肛门直肠畸形(ARM)诊断中磁共振(MRI)的应用及其准确性。方法选取2017年1月至2018年12月该院收治的60例ARM患儿为研究对象,所有患儿均进行倒立位X线片检查与MRI检查。将手术病理检查结果作为金标准。比较两种诊断方法最终的诊断结果、诊断准确率。结果 MRI诊断的高位肛门闭锁型ARM 24例、中位肛门闭锁型ARM 33例,直肠盲端均位于PC线以上,其距肛门窝的距离均≥2.1cm。倒立位X线片诊断的高位肛门闭锁型ARM 20例、中位肛门闭锁型ARM 30例,直肠盲端均于PC线基本水平,其距肛门窝的距离约为1.8cm。MRI诊断的高位肛门闭锁型ARM、中位肛门闭锁型ARM例数多于倒立位X线片检查例数,差异有统计学意义(P<0.05)。结论 ARM诊断中,MRI的诊断结果准确、可靠,适宜在临床上多加推广。     

MRI评价胎儿胼胝体缺如及其合并畸形

目的 利用MRI评价胎儿胼胝体缺如及其合并畸形。方法 对81胎MRI诊断胼胝体缺如胎儿，分析胼胝体缺如类型，观察其合并颅脑畸形类型及数目。结果 81胎中，单纯胼胝体缺如47胎、合并畸形34胎；合并蛛网膜囊肿12胎，Dandy-Walker畸形7胎，小脑发育不良5胎，神经元移行异常5胎，大枕大池4胎，室管膜下囊肿4胎，脑实质出血2胎，脑裂畸形、脑穿通畸形及脑膜膨出各1胎。结论 MRI可显示胼胝体缺如胎儿及其合并其他颅脑畸形，为评估胎儿预后提供更多信息。     

Fenestrated Amplatzer device for percutaneous creation of interatrial communication in patients after Fontan operation.

A customized Amplatzer septal device with a 5 mm fenestration was used to create an interatrial communication in two patients with previous Fontan operation and clinical indication for fenestration. At follow-up, device fenestration was occluded in both patients. In both patients, the device fenestration was reopened and patency maintained by placement of two stents within the communicating channel.     

Mutations and polymorphisms of the skeletal muscle α‐actin gene (ACTA1)

The ACTA1 gene encodes skeletal muscle α‐actin, which is the predominant actin isoform in the sarcomeric thin filaments of adult skeletal muscle, and essential, along with myosin, for muscle contraction. ACTA1 disease‐causing mutations were first described in 1999, when a total of 15 mutations were known. In this article we describe 177 different disease‐causing ACTA1 mutations, including 85 that have not been described before. ACTA1 mutations result in five overlapping congenital myopathies: nemaline myopathy; intranuclear rod myopathy; actin filament aggregate myopathy; congenital fiber type disproportion; and myopathy with core‐like areas. Mixtures of these histopathological phenotypes may be seen in a single biopsy from one patient. Irrespective of the histopathology, the disease is frequently clinically severe, with many patients dying within the first year of life. Most mutations are dominant and most patients have de novo mutations not present in the peripheral blood DNA of either parent. Only 10% of mutations are recessive and they are genetic or functional null mutations. To aid molecular diagnosis and establishing genotype–phenotype correlations, we have developed a locus‐specific database for ACTA1 variations ( http://waimr.uwa.edu.au ). Hum Mutat 30:1–11, 2009. © 2009 Wiley‐Liss, Inc.