Treatment of generalized infantile myofibromatosis with sorafenib and imatinib: A case report

Infantile myofibromatosis (IM) is characterized by solitary musculoskeletal nodules presenting during infancy but can manifest as multiple lesions with visceral involvement. Multicentric IM with visceral involvement carries a high risk of mortality and there is no consensus on treatment. We present a case of a patient with multicentric IM and pulmonary involvement who progressed on several chemotherapeutic regimens and subsequently had a complete response to sorafenib and later imatinib. This report describes the novel use of sorafenib and imatinib to treat generalized IM and the role of continued tyrosine kinase inhibitor therapy to maintain remission.     

针刺综合疗法治疗小儿急性上呼吸道感染高热的随机对照研究

目的观察针刺治疗小儿急性上呼吸道感染（acute upper respiratory infection,AURI）高热的疗效。方法 150例AURI患儿被随机分为针刺组和西药组,各75例。针刺组选用针刺单侧四关穴、耳尖放血、温水擦浴降温等疗法,西药组采用口服布洛芬混悬液、外用退热医用贴、酒精擦浴降温等疗法。观察两组治疗后退热时间、24 h内再次发热时间、惊厥次数、咳嗽持续时间、食欲恢复时间以及3个月内再次发生AURI时间。结果针刺组上述指标与西药组比较,差异具有统计学意义（P〈0.05）。结论针刺介入治疗AU-RI高热,可显著减少退热时间、惊厥次数、咳嗽持续时间、食欲恢复时间,而24 h内再次发热时间、3个月内再次发生AURI的时间显著延长。     

外用噻吗洛尔在皮肤科的临床应用进展

 噻吗洛尔是一种有效的非选择性β受体阻滞剂,可引起血管收缩、促进创面修复。外用噻吗洛尔不仅已成为浅表性婴儿血管瘤的一线治疗方法,近年来还在慢性溃疡和其他血管性皮肤病等方面显示出广阔的应用前景,具有良好的美容效果。本文对其在皮肤科的临床应用进展作一综述,为更多皮肤病的治疗提供新思路与选择。     

Comparison between febrile and afebrile seizures associated with mild rotavirus gastroenteritis

PurposeWe aimed on identifying the differences of febrile and afebrile seizures associated with mild rotavirus gastroenteritis (RVGE) in the pediatric population.MethodMedical charts of pediatric patients who had been admitted between July 1999 and June 2011 due to RVGE were retrospectively reviewed. Subjects were ultimately divided into three groups; ‘no seizure’ (NS: patients without seizure), ‘febrile seizure’ (FS: patients with fever during seizure), ‘afebrile seizure’ (AFS: patients without fever during seizure). Comparisons between groups were carried out on demographic and clinical characteristics, laboratory test results, electroencephalogram findings, brain magnetic resonance imaging findings, antiepileptic treatment, and prognosis.ResultsAmong the 755 subjects who had been admitted due to mild rotavirus enteritis, 696 (90.3%) did not have any seizures, 17 (2.2%) had febrile seizures, 42 (5.5%) had afebrile seizures. The duration of gastrointestinal symptoms before the onset of seizures were significantly shorter in the FS group compared to the AFS group (1.3 ± 0.8 vs. 2.8 ± 1.0 days; p < 0.0001). A single seizure attack was significantly higher in the AFS group (3.0 ± 1.6 vs. 1.7 ± 1.0 episodes; p = 0.0003), and the frequency of seizures that were of focal type with or without secondary generalization were significantly higher in the AFS group (33.3% vs. 6.0%; p = 0.0139). All patients among the FS and AFS group had not received further antiepileptic treatment after discharge, and none developed epilepsy during follow up period.ConclusionDespite some differences in seizure characteristics, both febrile and afebrile seizures associated with mild RVGE were mostly benign with a favorable prognosis.     

A novel de novo PDGFRB variant in a child with severe cerebral malformations,intracerebral calcifications,and infantile myofibromatosis

The spectrum of clinical consequences of variants in the Platelet derived growth factor receptor beta (PDGFRB) gene is wide. Missense variants leading to variable loss of signal transduction in vitro have been reported in the idiopathic basal ganglia calcification (IBGC) syndrome Type 4. In contrast, gain‐of‐function variants have been reported in infantile myofibromatosis, Penttinen syndrome, and Kosaki overgrowth syndrome. Here, we report a patient harboring a novel postzygotic variant in PDGFRB (c.1682_1684del, p.[Arg561_Tyr562delinsHis]) and presenting severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis. This observation expands the phenotype associated with PDGFRB variants and illustrates the wide clinical spectrum linked to dysregulation of PDGFRB.     

Solitary fibrous tumour and haemangiopericytoma: evolution of a concept

Haemangiopericytoma (HPC) was described in 1942 by Stout and Murray as a distinctive soft tissue neoplasm, presumably of pericytic origin, exhibiting a characteristic well-developed "staghorn" branching vascular pattern. Over the years, it appeared that this growth pattern was a non-specific one, shared by numerous, unrelated benign and malignant lesions, and that HPC was better considered as a diagnosis of exclusion. Three categories of lesion may now be individualized within the heterogeneous group of HPC-like neoplasms. The first category corresponds to those non-HPC neoplasms that occasionally display HPC-like features (e.g. synovial sarcoma). Lesions belonging to the second category show clear evidence of myoid/pericytic differentiation and correspond to true HPCs. They generally show a benign clinical course, and include glomangiopericytoma/myopericytoma, infantile myofibromatosis (previously called infantile HPC), and a subset of sinonasal HPCs. The third category is the solitary fibrous tumour (SFT) lesional group, which includes fibrous-to-cellular SFTs, and related lesions such as giant cell angiofibromas and lipomatous HPCs. In practice, any HPC-like lesion can be allocated to one of these categories, leaving the ill-defined "haemangiopericytoma" category empty.     

KHSRP基因多态性与家族性热性惊厥关联研究

目的 研究KH型剪切调控蛋白（KH-type splicing regulatory protein,KHSRP)基因的单核苷酸多态性（single nucleotide polymorphisms,SNPs)与家族性热性惊厥（febrile convulsions,FC)的关系。方法 通过NCBI的dbSNP数据库搜索KHSRP基因的单核苷酸多态性位点，运用位点特异性PCR（site-specificPCR amplification,SSP)和变性高效液相色谱（Dena-turing High Performance Liquid Chromatography,DHPLC)技术对来自中国北方的健康人群和家族性惊厥病人进行SNPs基因分型。结果 KHSRP基因三个多态性住点的基因型在健康人群均符合 Hardy-Weinberg平衡，各等位基因频率和基因型频率在病人和健康人无显著差异。结论 KHSRP基因的3个多态性位点的SNPs均与FC不相关，提示KHSRP基因可能不是FC的易感基因。     

葡萄糖酸锌治疗婴幼儿急性腹泻疗效观察

目的观察葡萄糖酸锌治疗婴幼儿急性腹泻的临床疗效,探讨其作用机制。方法将172例急性腹泻婴幼儿随机分为治疗组和对照组。两组均给予常规治疗,治疗组在此基础上加用葡萄糖酸锌治疗,剂量为≤6个月儿给予葡萄糖酸锌10 mg/d,〉6个月儿给予葡萄糖酸锌20 mg/d,疗程均为14 d。比较两组治疗总有效率、临床症状消失时间及随访3个月腹泻再发生率。结果治疗组总有效率明显高于对照组（χ2=6.14,P〈0.05）,治疗组发热、腹泻及住院时间与对照组比较差异有显著性（t=2.976～5.907,P〈0.01）,而呕吐时间与对照组比较差异无显著性（t=0.532,P〉0.05）。在随访3个月过程中,治疗组腹泻再发生率与对照组比较差异有显著性（χ2=4.40,P〈0.05）。结论葡萄糖酸锌可有效治疗婴幼儿急性腹泻并预防3个月内腹泻的再次发生。     

五虎汤对婴幼儿哮喘患儿外周血树突状细胞表面共刺激分子表达的影响

目的 观察五虎汤对婴幼儿哮喘患儿外周血树突状细胞（DC）共刺激分子CD80、 CD83和CD86表达的影响,为探讨五虎汤防治本病的机制提供依据。