Report of a child with aortic aneurysm,orofacial clefting,hemangioma, upper sternal defect,and Marfanoid features: Possible PHACE syndrome

We report a female patient who had a scalp hemangioma, a cleft uvula, an upper sternal defect, pectus excavatum, arachnodactyly, pes planus, and joint hypermobility. She had rupture of an aortic aneurysm after minor trauma at 11 years of age. At 17 years of age, elective repair of a dilated, ectatic aorta was complicated by cerebral ischemia. Other vascular abnormalities in the proband included an aneurysm of the left subclavian artery, atresia of the right carotid artery, and calcified cerebral aneurysms. We believe that the proband's physical anomalies are best described by the PHACE (posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities) phenotypic spectrum. This spectrum of physical anomalies also includes sternal clefting and hemagiomas as part of the sternal malformation/vascular dysplasia (SM/VD) association, as found in our patient, and the acronym PHACES has also been used. We consider that the PHACE phenotypic spectrum is likely to be broader than previously recognized and includes orofacial clefting and aortic dilatation and rupture. Our patient also had skeletal anomalies that lead to consideration of Marfan syndrome as a diagnosis. It should be recognized that there is clinical overlap between PHACE syndrome and Marfan syndrome when aortic dilatation is present. We would also like to emphasize the minor nature of the cutaneous findings in our patient despite her severe vascular complications. This is in contrast to previous reports of large or multiple hemangiomas in PHACE syndrome. Published 2002 Wiley‐Liss, Inc.     

Skeletal dysplasia with short,angulated femora (kyphomelic dysplasia)

We report on an infant with broad and severely angulated short femora as the most salient manifestation of a generalized skeletal dysplasia. Other findings include congenital bowing of other long bones, narrow thorax, platyspondyly, micrognathia, and skin dimples. A marked improvement of the bowing and of the irregular flare of the metaphyses was noted over a period of 6 mo. Congenital bowing of long bones can be an isolated finding or associated with other anomalies, so the purpose of reporting all cases is important for further nosologic and pathogenetic elucidation. Because of the severity of the femoral involvement, the condition has been called kyphomelic dysplasia. It may be an autosomal recessive trait. recessive trait.     

A Novel Locus for Ectodermal Dysplasia of Hairs, Nails and Teeth Type Maps to Chromosome 18q22.1–22.3

Ectodermal dysplasias (EDs) are developmental disorders affecting tissues of ectodermal origin including hair, nails, teeth and sweat glands. Ectodermal dysplasia of hair, nails and teeth is a rare type of congenital disorder characterized by sparse and thin hair, dystrophic finger-and toenails and missing and abnormal teeth. In an effort to understand the molecular basis of this form of ED a family of Pakistani origin with an autosomal recessive pattern of inheritance was ascertained from a remote region in Pakistan. The clinical features of the affected individuals included thin and fine hair on the scalp, dystrophic and flat nails, absent or sparse eyebrows and eyelashes, missing and abnormal teeth, and thin body hair. A human genome scan carried out using microsatellite markers mapped the disease locus in this family to chromosome 18q22.1–18q22.3. A maximum two-point LOD score of 2.73 (θ= 0.0) was obtained at marker D18S541. Multipoint linkage analysis resulted in a maximum LOD score of 3.42 obtained with several markers, including D18S1125, ATA82B02, D18S848, D18S488, D18S1091, and D18S485, which supported the linkage. The linkage interval is flanked by markers D18S857 and D18S815, which corresponds to a region of 17.32 cM according to Rutgers combined linkage and physical map (build 36). This region covers 8.63 Mb according to the sequence-based physical map. Three candidate genes, CDH7, CDH19 and ZNF407 , from the linkage interval were sequenced and found to be negative for functional sequence variants. This study is the first step towards the identification of a gene involved in hair, nails and teeth type ED.     

Cervical tissue uptake of all-trans-retinoic acid delivered via a collagen sponge-cervical cap delivery device in patients with cervical dysplasia

The present study was undertaken to evaluate the systemic absorption and cervical tissue uptake of all-transretinoic acid (TRA), delivered via a collagen spongecervical cap delivery device in patients with intraepithelial cervical dysplasia. Ten patients with histologically proven mild or moderate cervical dysplasia were included in this pharmacologic study. The two TRA concentrations (0.05% and 0.372%) selected for study represent the starting and maximally tolerated doses used in phase I clinical trial. All-trans-retinoic-11-³H acid (³H-TRA, 500 Ci) was used to facilitate cervical tissue uptake studies. Cervical biopsies and post-treatment blood samples were obtained from each patient after TRA exposure. The uptake of TRA into cervical tissues four hours after drug administration was significantly increased at the maximally tolerated TRA dose. There was a rapid decrease in cervical tissue concentration of TRA at the 0.372% dose between 4 and 24 h after drug exposure, suggesting a relatively short elimination half-life of TRA in cervical tissues. HPLC analysis of post-treatment blood samples indicate that there was no systemic absorption of TRA after local cervical administration.     

Dysplasia in the gastrointestinal tract: definition and clinical significance

Summary The term dysplasia is used increasingly in gastrointestinal pathology. Dysplasia denotes an unequivocal neoplastic epithelial alteration without invasive growth and is synonymous with the term intraepithelial neoplasia. Dysplasia is the paradigm of a precancerous lesion. Confusion arises because some pathologists do not use the term in the above-defined sense but to describe regenerative, inflammatory and reactive changes. It is essential to separate these kinds of non-neoplastic epithelial changes from neoplastic dyplasia because the clinical consequences are completely different. The general morphology and the grading of dysplasia are described. Most dysplasias in the gastrointestinal tract are the polypoid lesion; dysplasias in flat mucosa are uncommon. Knowledge of the incidence of dysplasia in the gastrointestinal tract is important for the concept of secondary cancer prevention.     

Fibrocartilaginous mesenchymoma with low-grade malignancy

In a review of cases of fibrous cartilaginous dysplasia of bone, five of fibrocartilaginous lesions were found to be different in clinical behavior and radiographic and morphologic features from the others. We have named these previously undescribed tumors fibrocartilaginous mesenchymomas with low-grade malignancy in the fibrous elements.Dr. Bertoni is a visiting surgical pathologist from the Servizio di Anatomia ed Istologia Patologica, Bologna, Italy     

支气管肺发育不良基因表达调控异常研究进展

支气管肺发育不良(BPD)是早产儿最常见的慢性肺部疾病。BPD由多种因素引起,其本质是在遗传易感性的基础上,各种环境因素引起的肺损伤和发育中的未成熟肺修复之间的不平衡。研究显示BPD致病分子机理多涉及炎症细胞因子、非编码RNA和各种信号通路因子的异常表达调控。这些相关基因的异常表达,不仅影响了胚胎或早期胎儿肺的正常发育,并阻碍了新生肺损伤后肺的修复,或导致肺功能不全。单独或协同影响了BPD的发生发展。同时研究发现环境风险因素如高氧暴露、炎症导致基因表达异常也是BPD发生的原因之一,环境和基因共同作用推动了BPD的发生发展。     

肺部解脲脲原体感染对支气管肺发育不良影响的Meta分析

目的 分析肺部解脲脲原体(UU)感染对支气管肺发育不良(BPD)的影响,为早产儿BPD的防治提供依据。 方法 检索Pubmed、Embase、Web of Science、Cochrane Library、中国知网、万方、维普及中国生物医学数据库(CBM)8个数据库,收集关于肺部UU感染对BPD影响的队列研究,检验标本为气管内分泌物,检索时间为自建库至2020年4月15日,采用Stata 15.1软件对纳入研究进行Meta分析。 结果 共纳入21项研究,均为队列研究,其中18篇文献以生后28 d为评估结局,9篇文献以校正胎龄36周为评估结局,共包含研究对象3 039例,其中UU感染组831例,非UU感染组2 085例。随机效应模型显示,UU感染不会增加BPD的发病风险(出生后28 d评估:RR=1.69, 95%CI:1.42~2.01, 矫正胎龄36周评估:RR=1.20, 95%CI:0.91~1.58)。 结论 基于现有研究数据,不能确定UU感染是BPD的影响因素,尚需统一的BPD诊断标准以及更高质量的队列研究来探索UU感染与BPD之间的关系。     

MNNG诱发大鼠腺胃粘膜不典型增生与 高分化腺癌形态定量分析

目的探寻大鼠腺胃粘膜不典型增生与高分化腺癌的形态定量参数指标,探讨大鼠实验性胃癌与人类胃癌形态定量指标的异同性。方法利用HPIAS-1000型图象分析系统对以MNNG诱发的大鼠腺胃粘膜不典型增生及高分化腺癌进行形态定量研究。结果大鼠腺胃粘膜不典型增生与高分化腺癌8项形态定量参数指标经统计学处理比较,其中核面积、核周长、核等效直径、核体积、核长径,核形状因子8项形态定量指标（P<0.01）有高度显著性差异,而核短径和核长短径比值（P>0.05）无显著性差异。结论这些形态定量参数指标对区别大鼠腺胃粘膜不典型增生与高分化腺癌有一定价值,形态定量参数指标也是随着癌前病变、癌的顺序逐渐递增;大鼠腺胃粘膜上皮癌变与人类胃粘膜上皮癌变有着相似的形态学变化过程。