儿童四肢肌肉内脉管畸形的临床分析

目的探讨儿童四肢肌肉内常见脉管畸形的临床特征、影像学表现及病理学特征,以降低误诊率、指导治疗、改善预后。方法回顾性分析2015年1月至2019年1月收治的32例病理诊断为肢体肌肉内脉管畸形患儿的临床资料。其中,男19例,女13例;年龄为(8.1±3.7)岁,范围为3～16岁;21例因触及局部肿块就诊,11例因患肢疼痛就诊(4例并发跛行及患肢失用性萎缩)。初次就诊时,诊断肌肉内脉管畸形26例,生长痛4例,肌肉拉伤1例,软组织挫伤1例;误诊率18.8%(6/32)。所有患儿术前均接受B型超声检查,14例接受磁共振成像(magnetic resonance imaging,MRI)检查。总结患儿的临床特点,影像学及病理学诊断要点。结果病灶累及上肢5例,累及下肢27例;术后病理学检查提示静脉畸形19例,纤维脂肪脉管异常7例,软组织血管瘤病6例。术后平均随访时间为32个月,随访时间范围为3个月至4年。1例股四头肌内静脉畸形于术后8个月复发,硬化剂瘤体内注射治疗后好转;其余病例局部病灶及临床症状均未见复发,患肢功能正常,手术切除治愈率96.9%(31/32)。结论不同类型儿童肌肉内脉管畸形具有不同...     

法瓦病的诊疗现状

法瓦病(fibro-adipose vascular anomaly, FAVA)是一种复杂的良性脉管类疾病, 多见于儿童和青少年, 主要临床表现为受累肢体的持续性疼痛和痉挛。由于既往对FAVA的认识不足, 造成临床医师对该病的诊治存在较多困惑。为进一步提高临床医师对FAVA的认识, 本文对FAVA的发病机制、临床表现、影像学特征及治疗进展进行综述, 为FAVA的临床诊治提供参考。     

肝脏局灶性结节性增生5例

目的 探讨肝脏局灶性结节性增生(FNH)的诊断和治疗。方法 回顾性分析我院1995~2003年经手术切除及病理证实5例FNH的临床、影像、手术及病理学资料。结果 5例甲胎蛋白(AFP)均为阴性,无肝炎病毒感染依据,术前均未明确诊断而行手术切除,无手术死亡及术后并发症。结论 FNH在临床及影像学上有一定特征,但确诊十分困难;对于无症状确诊病例,可暂不手术,密切随访;有症状、生长迅速或诊断不明确者应积极手术。     

小儿局灶性结节性肝脏增生临床诊治经验探讨

目的探讨小儿局灶性结节性肝脏增生的临床特点、诊断方法及治疗经验,提高其诊治水平。方法回顾性分析2006年1月至2018年1月由首都医科大学附属北京儿童医院经手术切除及病理检查证实为局灶性结节性肝脏增生的患儿临床资料,其中男童9例,女童13例,发病年龄7个月至11岁1个月,中位年龄4岁6个月,所有病灶为单发,均经不规则性肝切除术治疗。结果临床表现:22例局灶性结节性肝脏增生(focal nodular hyperplasia,FNH)患儿中腹痛7例,腹部膨隆或包块4例,体检发现11例;实验室检验:肝功异常8例,AFP升高3例,均于术后恢复正常;影像学检查:所有22例均行超声检查,10例拟诊断为FNH,拟诊断正确率为45. 5%;误诊为肝脏血管瘤5例,其中肝母细胞瘤1例,间叶错构瘤1例。20例行CT(含增强)检查,11例拟诊断为FNH,拟诊断正确率为55%。3例术前行MRI检查,1例拟诊断为FNH,2例未予明确诊断。术后肿瘤最长径线5～15 cm,中位长度8 cm,其中≥10 cm者5例,最大肿物体积为15 cm×10 cm×8 cm。所有病例为单发病灶,均行手术切除,病理提示肿物中央灰白色放射样瘢痕特征11例(50%)。术后随访0. 5～10. 8年,未见复发或严重并发症发生。结论小儿局灶性结节性肝脏增生在临床及影像学上有一定特征,联合应用CT等影像学检查和AFP水平及肝功能实验室检查指标能提高其诊断水平,最终确诊需术后病理检查,手术切除治疗能够有效解除病灶,远期预后良好。     

小儿肝脏局灶性结节状增生临床分析

目的探讨小儿肝脏局灶性结节状增生（FNH）的诊断和治疗。方法回顾性分析本院2005—2011年经手术切除及病理检查证实的9例FNH患儿临床资料。结果9例中，8例甲胎蛋白阴性，1例甲胎蛋白升高，无一例肝炎病毒感染，1例合并门静脉海绵样变、门静脉高压及脾大。均行手术切除，无一例手术死亡或出现术后并发症。结论FNH在临床及影像学上有一定特征，对符合影像学标准、AFP阴性的患儿术前能明确诊断，对于无症状的确诊病例，可暂不手术，密切随访。有症状、生长迅速、合并其他肝脏疾病、诊断不明确者应积极手术。     

儿童颅骨肿物的诊断和治疗

目的 探讨儿童颅骨肿物的常见病理类型、临床特点和治疗方法。方法 回顾性分析25例手术治疗的儿童颅骨肿物病例，对其临床症状、影像学资料、治疗方法以及生存情况等进行分析研究。结果 全切除手术15例，近全切除手术6例，部分切除手术3例，1例行活检手术。随访20例患儿，85％的患儿手术后基本恢复了正常的生活，2例生活需要照顾，随访期间死亡的患儿1例。结论 儿童颅骨肿物的诊断和治疗相对有别于成人。积极的手术治疗可以达到明确诊断，延缓神经功能缺损的发展，延长患儿的生存期以及美容等目的。     

小儿肝脏局灶性结节样增生的诊断和治疗(6例报告)

目的探讨小儿肝脏局灶性结节样增生(Focal Nodular Hyperplasia，FNH)的发病机制、临床诊断和治疗经验。方法回顾性分析1998年-2004年经手术和病理学证实的6例肝脏局灶性结节样增生病例的临床影像学和病理学资料。结果6例FNH均无服用类固醇药物史或化疗史，AFP均阴性，4例有乙型肝炎病毒感染证据，6例均有典型病理改变，均行手术切除，无术后并发症及死亡。结论FNH在小儿发病可能与乙肝病毒感染有一定关系；在临床和影像学上有一定特征；通常由于小儿FNH偏大，鉴别诊断有一定难度，FNH在小儿宜手术切除。     

法瓦病诊疗方法的初步探索

目的:初步探索法瓦病（fibroadipose vascular anomaly ,FAVA）的诊疗原则。方法:收集西安国际医学中心医院2019年10月1日至2020年10月1日收治的FAVA患儿8例的临床特征、影像学、治疗过程及随访情况等资料。其中,男2例,女6例;年龄为（11. 8±3. 0）岁,范围为9~17岁;...     

小儿先天性肺囊性腺瘤样畸形23例诊治分析

目的 总结小儿先天性肺囊性腺瘤样畸形(CCAM)的临床特点及诊治经验.方法 回顾性分析2001年3月至2007年12月在北京儿童医院经手术和病理检查确诊为CCAM的23例患儿的临床资料.所有患儿术前均摄X线胸片并行胸部CT扫描检查.结果 23例患儿中男15例,女8例.进行手术治疗时的平均年龄4.5岁,其中包括新生儿2例.术前诊断主要依靠病史和影像学检查.术前误诊4例,术前影像学检查确诊率为82.6%.依照Stocker组织病理学分型,23例患儿中Ⅰ型15例,Ⅱ型8例,没有恶变.23例均经手术治疗,证实1例为双侧痛变,余均为单侧病变和累及单叶.全部病例痊愈出院,随访结果显示23例均恢复良好.结论 小儿CCAM临床表现无特异性.影像学检查是发现该病的有效手段,确诊依据组织学检查,组织病理学分型可依据胸部CT结果得出大致判断.手术治疗是CCAM主要治疗手段,肺叶切除是标准术式并可取得良好的效果.     

儿童骨样骨瘤的诊断及治疗体会

目的 分析7例骨样骨瘤的临床及影像学特点，总结诊断经验，探讨治疗方法。方法 对7例骨样骨瘤患者的诊断和治疗进行回顾性分析，病变位于股骨近端4例，胫骨中上段、距骨各1例，股骨远端干骺端和胫骨上端干骺端同时存在1例。2例患者施行传统的手术方法，将整块硬化骨质及瘤巢一并切除，5例患者在C型臂引导下切除瘤巢，所有病例切除组织术后均送病理检查。结果 7例患者术后临床症状均消失，病理报告均为骨样骨瘤，随访2月～8年余无1例复发。结论 骨样骨瘤的诊断主要根据典型的夜间疼痛为主的临床症状及影像学检查发现瘤巢，尤其是CT诊断价值最大；瘤巢的准确定位及彻底切除是获得良好治疗效果的关键，C型臂引导下手术切除局部病灶是较为理想的治疗方式。     

Vascular anomaly cases for the pediatric hematologist oncologists—An interdisciplinary review

Vascular anomalies (VAs) are classified as tumors or malformations depending on their clinical characteristics, pathological diagnosis, and genomic information. Diagnosis can be challenging because of the heterogeneity of clinical presentation; thus, the best diagnosis and care are provided by an interdisciplinary team of specialists. Over the past 10 years, an increasing number of pediatric hematologist/oncologists are caring for patients with VAs secondary to new medical therapy options and clinical trials. This paper focuses on complicated VA issues often seen by the pediatric hematologist/oncologist. The paper reviews clinical pearls on diagnosis, histology, radiology, and treatment options.     

Impact of vascular anomalies on the PTEN phenotype in children and young adults

Germline PTEN (phosphatase and tensin homolog) mutations lead to inappropriate cell survival and growth, and a predisposition to multiple cancers. Some patients also have vascular anomalies (VAs), and it is unclear whether these patients have different phenotypes or oncologic risks. We conducted a two‐institution retrospective cohort study to better understand the phenotypes of children and young adults with PTEN mutations, and to compare individuals with VA to those without. Almost half of the patients had thyroid tumors and nearly one quarter developed gastrointestinal tumors before 30 years of age. The presence of VA was positively associated with bulky overgrowth but did not appear to modify oncologic risk.     

Japanese clinical practice guidelines for vascular anomalies 2017

The objective was to prepare guidelines to perform the current optimum treatment by organizing effective and efficient treatments of hemangiomas and vascular malformations, confirming the safety, and systematizing treatment, employing evidence‐based medicine (EBM) techniques and aimed at improvement of the outcomes. Clinical questions (CQs) were decided based on the important clinical issues. For document retrieval, key words for literature searches were set for each CQ and literature published from 1980 to the end of September 2014 was searched in Pubmed, Cochrane Library, and Japana Centra Revuo Medicina (JCRM). The strengths of evidence and recommendations acquired by systematic reviews were determined following the Medical Information Network Distribution System (MINDS) technique. A total of 33 CQs were used to compile recommendations and the subjects included efficacy of resection, sclerotherapy/embolization, drug therapy, laser therapy, radiotherapy, and other conservative treatment, differences in appropriate treatment due to the location of lesions and among symptoms, appropriate timing of treatment and tests, and pathological diagnosis deciding the diagnosis. Thus, the Japanese Clinical Practice Guidelines for Vascular Anomalies 2017 have been prepared as the evidence‐based guidelines for the management of vascular anomalies.     

洛沙坦对高肺血流量大鼠肺血管平滑肌增殖及肺小动脉重构的抑制作用

目的观察血管紧张素受体拮抗剂对高肺血流量导致肺动脉高压肺血管重构的影响。方法采用腹主动脉-下腔静脉瘘制造大鼠容量负荷性肺动脉高压模型,并应用洛沙坦(losartan)进行干预,6周后观察肺动脉收缩压(PASP)、舒张压(PADP)、右室收缩压(PVSP)变化,心室重量变化,肺血管平滑肌细胞(VSMC)α-平滑肌肌动蛋白(α_actin)及增殖细胞核抗原(PCNA)免疫组化染色;比较各组α_actin积分光密度值(IOD)及肺血管VSMC的PCNA阳性率,比较无肌性动脉肌性化程度及肺小动脉血管厚度百分比(%WT)。结果手术组动物RVSP、PASP、PADP较对照组明显升高(P<0.05),手术 洛沙坦组RVSP、PASP、PADP明显低于手术组(P<0.05);手术组右心室(RV)/左心室加室间隔(LV S)、RV/体重(BW)、(LV S)/BW较对照组显著增加(P<0.001),而手术 洛沙坦组则较手术组显著降低(P<0.01)。与对照组比较,手术组α_actin染色IOD值显著降低(P<0.01),而手术 洛沙坦组IOD值则高于手术组(P<0.05),手术组细胞PCNA阳性率显著升高(P<0.01),而手术 洛沙坦组低于手术组(P<0.05);手术组与其他两组比较,管经50~100μm、101~150μm%WT及15~50μm血管肌性化百分比显著增加(P<0.01)。结论腹主动脉-腔静脉分流导致了肺血管重构和肺动脉高压的发生,洛沙坦能有效地抑制高肺血流量大鼠肺动脉VSMC增殖,减缓肺动脉高压肺血管重构进程。     

Respiratory Infections and Vascular Rings

ABSTRACT. Recurrent respiratory infections after the first years of life are not easily related to vascular rings as the cause of these infections. Therefore six cases of older children are presented in whom a vascular ring was the cause of their respiratory problems. None of them ever had stridor or swallowing problems in early infancy, and recurrent respiratory infections occurred later in life as a symptom of a vascular ring. Unfamil iarity with this association caused a delay in diagnosis and treatment in two patients and persistent lung damage in one child. Five of the 6 children recovered well after operation. The diagnosis can be made at an early stage if close inspection of the outline of the trachea on the chest radiograph shows an impression from the right side.     

不同氧环境下新生大鼠视网膜血管内皮生长因子和色素上皮衍生因子间的关系

目的研究不同氧浓度环境对新生大鼠氧视网膜病变新生血管的影响及血管内皮生长因子(VEGF)和色素上皮衍生因子(PEDF)在视网膜血管形成中的作用。方法新生大鼠生后即置于50%和45%～12.5%的氧环境下14d。计数每张切片上突破内界膜且与内界膜有联系的内皮细胞核数,免疫组织化学检测VEGF、PEDF在大鼠视网膜的表达。结果在暴露于45/12.5%氧环境下的大鼠,视网膜新生血管密度为92.62±23.45,持续50%氧组为14.23±12.86,对照组为12.96±10.58;VEGF阳性细胞率在45%～12.5%氧环境组、持续50%氧组分别为57.89%、4.98%,而对照组为13.20%,差异有统计学意义(F=479.461,P=0.000)。离开暴露环境后0、2d的VEGF阳性细胞率在45%～12.5%氧和持续50%氧组分别为(57.89±2.84)%、(39.38±1.10)%和(34.98±4.80)%、(27.80±4.05)%(P均=0.000)。PEDF在三组的表达差异无统计学意义(F=0.271～0.765,P均>0.05)。因此,两实验组病理形态方面差异与视网膜的总VEGF水平相关,而总的PEDF水平在各组间差异无统计学意义。结论在鼠早产儿视网膜病(ROP)模型中,血氧小的波动就可触发随后不成比例的血管增长,后者伴随比PEDF更强烈的VEGF的变化。如果这种变化同样存在,即可解释胎龄、体重、临床相似的早产儿,在相同给氧条件下的部分发生ROP,而部分不发生ROP的现象。     

Single-center experience with sirolimus therapy for vascular malformations

Vascular malformations (VMs) are described as congenital malformations of the vasculature derived from capillaries, veins, lymphatic vessels, arteries, or a combination of these vessels. They can cause significant morbidity resulting from soft tissue hypertrophy-related disfiguration, bony abnormalities, and even organ compromise. They are usually treated with various interventional procedures to achieve local control; however, the chance of success decreases as the anatomical distribution of the malformation widens. Unfortunately, medical treatment options have been quite limited in these patients. Sirolimus is an antiangiogenetic and antiproliferative pharmacologic agent that has been used for the management of VM in the last decade. We report 6 pediatric patients (4 with capillary lymphaticovenous malformations, 1 with lymphaticovenous malformation, and 1 with venous malformation) seen at our clinic within the last 2 years with lesions covering wide anatomical areas. After the patients had unsuccessfully undergone various treatments at various centers, they were treated at our facility with peroral sirolimus. The mean duration of treatment was 13 months, but in 3 patients, tapered dosing continues. Five patients achieved partial responses. The response to sirolimus treatment increased as the lymphatic component of the VM increased. All patients tolerated sirolimus well; side effects were acceptable. Sirolimus is a safe and effective medical treatment for widely distributed VMs with significant lymphatic components and no further local treatment option.