神经节细胞减少症的诊断与手术治疗

目的了解神经节细胞减少症的诊断与手术治疗效果。方法对17例该病患儿进行回顾性分析及随访。结果本组17例单纯性神经节细胞减少症全部行钡灌肠X线检查,共有9例可见狭窄段、扩张段,其中2例可见明显移行段。15例行直肠肛管测压有5例未出现直肠肛管抑制反射。16例行乙酰胆碱酯酶测定仅3例阳性。多处全层活检可准确诊断该病。术后2例发生小肠结肠炎,经保守治疗痊愈。其他患儿均未出现切口裂开、肠瘘、污粪、便秘复发。结论全层活检是诊断该病的可靠方法,病变肠段切除、结肠直肠吻合术治疗本病可获满意的疗效。     

先天性肺隔离症的诊断和外科治疗

目的总结小儿先天性肺隔离症的诊断和外科治疗经验。方法对8例经手术、病理证实先天性肺隔离症患儿的临床资料进行回顾性分析。结果8例先天性肺隔离症患儿术前有3例误诊；6例叶内型行肺叶切除术，2例叶外型行单纯隔离肺切除术。术后未发生并发症。结论先天性肺隔离症术前诊断应注意结合胸片、碘油造影、逆行主动脉造影，一经诊断即应择期手术治疗，术中注意异常血管的处理。     

先天性十二指肠梗阻的诊断与治疗探讨

目的探讨十二指肠梗阻的病理特点及临床诊断与治疗方法.方法回顾性分析本院近10年来收治的47例十二指肠梗阻患儿临床资料.包括先天性肠旋转不良26例,十二指肠闭锁狭窄15例,环状胰腺4例,肠系膜上动脉综合征2例.患儿均予手术治疗,其中行Ladd手术31例次,十二指肠菱形吻合手术9例,隔膜切除十二指肠成型手术10例,十二指肠空肠吻合手术1例.结果 47例中,42例存活,3例死亡,2例放弃治疗,自动出院.结论先天性十二指肠梗阻的主要病因为先天性肠旋转不良、十二指肠闭锁狭窄、环状胰腺,部分病例存在两种病因;一旦确诊应尽早选择合理的手术方法进行治疗,术后应注意预防并发症.     

Diagnosis and treatment of pediatric onset isolated dystonia

Isolated dystonia refers to a genetic heterogeneous group of progressive conditions with onset of symptoms during childhood or adolescence, progressive course with frequent generalization and marked functional impairment. There are well-known monogenic forms of isolated dystonia with pediatric onset such as DYT1 and DYT6 transmitted with autosomal dominant inheritance and low penetrance. Genetic findings of the past years have widened the etiological spectrum and the phenotype. The recently discovered genes (GNAL, ANO-3, KTM2B) or variant of already known diseases, such as Ataxia-Teleangectasia, are emerging as another causes of pediatric onset dystonia, sometimes with a more complex phenotype, but their incidence is unknown and still a considerable number of cases remains genetically undetermined.Due to the severe disability of pediatric onset dystonia treatment remains unsatisfactory and still mainly based upon oral pharmacological agents. However, deep brain stimulation is now extensively applied with good to excellent results especially when patients are treated early during the course of the disease.     

神经节细胞减少症引起新生儿急性肠梗阻的诊治

目的 了解神经节细胞减少症引起新生儿肠梗阻的诊断与治疗.方法 回顾性分析在新生儿期发生肠梗阻的11例神经节细胞减少症患儿的临床表现、术前检查及诊疗经过,并对预后进行评价.结果 6例Ⅰ期巨结肠根治术患儿中,术前行钡灌肠X线检查,4例可见狭窄段及扩张段,5例24 h钡剂排空差;肛管直肠测压检查显示,5例出现直肠肛管抑制反射,但反射阈值高于正常;直肠黏膜活检乙酰胆碱酯酶阳性4例.5例造瘘患儿,3例行Ⅱ期根治术,2例行关瘘术.所有息儿均根据术后病检结果进行诊断.所有患儿术后没有出现伤口裂开、便秘复发及大便失禁情况.结论 神经节细胞减少症可以引起新生儿肠梗阻,病检是诊断本病的可靠方法.肠造瘘解除急性肠梗阻后,如果肠道功能恢复可直接关瘘;否则需行巨结肠根治术才能达到良好的治疗效果.     

Cartilage‐hair hypoplasia associated with isolated hypoganglionosis: A case report

Cartilage‐hair hypoplasia is a rare metaphyseal chondrodysplasia characterized by diverse clinical manifestations and a high incidence of Hirschsprung disease. We present a male patient with cartilage‐hair hypoplasia associated with severe intestinal obstruction. Genetic analysis of ribonuclease mitochondrial RNA‐processing complex gene identified compound heterozygous mutations consisted with previously reported mutations: n.‐14_3dupGAAGCTGAGGACGTGGT and n.183G > T. First, we considered that intestinal obstruction was due to an extensive type of Hirschsprung disease, but it was later confirmed as isolated hypoganglionosis. Isolated hypoganglionosis is rare and its therapeutic strategies are not well established. In cases of cartilage‐hair hypoplasia associated with severe intestinal obstruction, the differential diagnosis of not only Hirschsprung disease, but also isolated hypoganglionosis, should be considered.     

儿童脾脏良性占位性病变的外科诊治

目的 总结儿童脾脏良性占位性病变的临床特点.方法 回顾我院普外科自1988年1月至2011年12月收治的19例脾脏良性占位患儿(男12例,女7例,平均年龄10岁)的资料,分析其临床表现、诊断及治疗.结果 19例患儿中有8例为良性肿瘤,其中血管瘤居多.其余11例多为真性囊肿.14例行脾切除术,5例行部分脾切除术,患儿术后恢复良好.结论 儿童良性脾脏占位性病变主要依靠影像学诊断,主张行保脾为主的手术治疗,手术方式选择取决于肿物的性质及位置.     

孤立性血尿诊治中的一些问题

孤立性血尿 (isolatedhematuria)指仅尿中红细胞数量超过正常 ,而无明确的全身性和 (或 )泌尿系疾病及其相关的检查异常 (如水肿、高血压、肾功能减退等 )而言。在1979年我国儿科肾脏病科研协作组拟定的肾脏病分类方案中称“无症状性血尿”(asymptomatichematuria) ,1981年修订为“单纯性血尿”[1] ,2 0 0 0年中华医学会儿科学分会肾脏病学组于珠海会议上命名为“孤立性血尿” (isolatedhematuria) [2 ] 。本症发生情况各家、各地报告不一。日本福冈 16 0 0 0 0名健康儿童尿筛查诊断为孤立性血尿者占 0 2 5 %。我国1980年对 2 2 4 2 91名 2…     

Congenital atresia of the left coronary ostium: Diagnosis and surgical treatment

Summary An 11-year-old girl with congenital atresia of the left coronary ostium underwent coronary artery bypass grafting using the internal mammary artery. Before surgery, the patient complained of syncope on exertion. Exercise electrocardiogram (ECG), two-dimensional echocardiogram, and²⁰¹Tl myocardial scintigram were useful in establishing the diagnosis. Selective coronary angiograms showed typical findings. Postoperative recovery was uneventful; exercise ECG and stress²⁰¹Tl myocardial scintigram demonstrated improvement. Internal mammary artery graft is probably better than a saphenous vein graft as a coronary artery bypass graft in childhood and adolescence because of the long-term patency of this type of graft.     

Diagnosis of mediastinal masses and principles of surgical tactics and technique for their treatment.

The diagnosis of a mediastinal mass is first based on clinical features, supplemented by epidemiological data and laboratory results providing information on the nature and localization of the mass. The diagnosis is then defined further on the basis of imaging studies. The first examinations required are standard radiographs, ultrasound scan or computed tomography scan and occasionally magnetic resonance imaging (MRI), angiography, and scintigraphy. These studies are followed by a thoracoscopy, mediastinoscopy, and the necessary biopsy techniques. Finally, the author describes the general principles of surgical tactics and techniques that generally lead to a total regression of the disease.     

小儿埋藏性阴茎的诊断与外科治疗

为了探讨埋藏阴茎的最佳的手术治疗方法，对近１２年中收治的年龄４～１３岁８５例患儿，应用包括包皮外板多处小切口纵切横缝包茎、耻骨联合前上方皮下组织切除、阴茎筋膜分离和阴茎根部皮肤与耻骨骨膜缝合的方法进行手术。术后半年以上获得随访共６７例，其中效果满意５９例（８８．１％），尚有轻度阴茎埋藏８例（１１．９％）。提示本术式是治疗埋藏阴茎简单有效的方法。     

Isolated hypoganglionosis: results of a nationwide survey in Japan

Purpose

This study analyzes how isolated hypoganglionosis (IH) is diagnosed and treated in Japanese pediatric surgical departments.

Methods

A second questionnaire was sent to 90 pediatric surgical departments that took part in an initial survey on variant Hirschsprung’s disease.

Results

Of 109 cases registered as having a certain diagnosis of IH, we targeted 90 patients and excluded the remaining 19. Symptom onset was neonatal ileus with a male:female ratio of 34:56. In most cases, results from radio-contrast enemas and suction rectal biopsies were normal. Anorectal manometry demonstrated that there was no relaxation in 73 % of the 37 patients examined. Furthermore, out of 55 patients who were examined intraoperatively, IH was diagnosed or suspected in 29 cases. Another 12 cases were eventually diagnosed with IH by other institutions using paraffin-embedded specimens. Stomas were initially created in 89 out of 90 cases and the mortality rate of the group that initially received jejunostomies was significantly lower than that of the ileostomy group (p < 0.05).

Conclusion

Preoperative diagnosis of IH is often difficult and intraoperative biopsies were only able to provide a correct diagnosis in 52 % of cases. More accurate diagnosis and the initial creation of jejunostomies rather than ileostomies may assist in improving patient management and outcomes.     

心肌炎的诊断与治疗

心肌炎是指心肌的局限性或弥漫性的炎性病变为主要表现的疾病.近年来随着对心肌炎动物模型实验研究及患者临床数据研究的不断深入,在心肌炎诊治方面出现了一些新进展.无创性心脏磁共振检查对心肌炎的的诊断有重大的价值,但不能替代心内膜心肌组织活检.心肌炎的治疗主要是对症辅助支持处理,主要为积极治疗休克、心力衰竭及心律失常等综合治疗,尤其是暴发性心肌炎患者的治疗.因目前缺乏大量的相关临床研究数据,对于心肌炎的诊治仍需进一步探索.     

小儿神经节瘤的诊断与治疗

目的：为准确地诊断和治疗小儿神经节细胞瘤。方法：观察24例小儿神经节细胞瘤的超声，CT，核磁共振（MR）影像检查所见，总结其临床特点，并对该肿瘤进行病理分型。结果：术产经彩超，CT，MR检查，17例确定诊断，7例误诊为其他肿瘤，患儿年龄偏大，一般状态好，瘤体增长速度缓慢，骨穿，尿3－甲基，4－羟基苦杏仁酸（VMA）为阴性，依据神经节细胞与神经纤维成分的多少及有无神经母细胞，病理分为三型；A型以神经纤维成分为主，神经节细胞占少数，此型多见；B型两种成分大致相等；C型除上述两成分外，还可见到神经母细胞手术完整切除19例，5例部分残留，术中副损伤以腔静脉破裂多见，术后随访19例，16例正常，3例死亡，其中2例起源于肾上腺，结论：神经节细胞瘤虽为少见，但了解其影像学特点，术前可以作出诊断。