生长因子在颅缝早闭症中作用的研究进展

颅缝早闭是一种较常见的先天性颅面畸形,表现为一条或多条颅缝过早闭合。多种因素可以在胚胎期及出生后影响头骨的发育,从而导致不同类型的颅缝早闭。目前研究表明,生长因子与颅缝闭合过程有着密切的联系,本文就生长因子在颅缝早闭症中作用的研究进展进行综述。     

先天性颅缝早闭症的治疗

颅缝早闭症是指单一或多个颅缝过早闭合所引起的影响大脑发育和功能的严重先天性疾病。通过对１０例颅缝早闭症的临床表现进行分析，阐述了各种颅缝早闭造成的不同畸形头的特点，详细介绍了各种相应的手术方法，并对颅缝早闭症的病因、手术方法、手术年龄及并发症的处理等进行了讨论。     

颅盖成形术治疗先天性颅缝早闭症

目的探讨治疗先天性颅缝早闭症的多种颅盖手术方法。方法采用下述方法治疗37例先天性颅缝早闭症：①眶额前移额骨瓣交叉旋转顶骨支撑术治疗短头、尖头及塔头畸形;采用梅花形颅骨瓣治疗矢状缝早闭。②额眶成形术治疗三角头。③双侧额骨瓣旋转,额眶带前移、患侧额骨瓣前倾术治疗单侧冠状缝早闭引起的前斜头畸形。④双侧顶枕骨瓣旋转交错,梅花形骨瓣成形术治疗单侧人字缝早闭引起的后斜头畸形;⑤额面前移术治疗双侧冠状缝早闭及颅底缝早闭形成的短头畸形,及合并Apert或Crouzon综合征的颅面畸形。结果37例先天性颅缝早闭症均痊愈出院,术后随访2～3年无明显并发症,头颅外形均得到了改善。结论在治疗先天性颅缝早闭症时,采用大骨瓣的颅盖成形术仍不失为治疗颅面畸形的好方法。     

先天性颅缝早闭的颅骨成形——附6例报道

目的更好的对先天性颅缝早闭的颅骨进行颅骨成形.方法用多种颅骨瓣旋转、调换及结合梅花瓣骨成形重建颅骨外形.结果 6例患儿均获成功,外形满意.结论颅骨成形方法采用梅花瓣式的塑形法,可以在术中任意塑造形状.颅缝早闭症一定要扩大颅底才能彻底改变颅骨外形,减少以后中面部发育不良.采用钛板加钛条固定颅底和骨瓣,即坚强又牢固.     

先天性颅缝早闭的颅骨成形——附6例报道

目的　更好的对先天性颅缝早闭的颅骨进行颅骨成形。方法　用多种颅骨瓣旋转、调换及结合梅花瓣骨成形重建颅骨外形。结果　 6例患儿均获成功 ,外形满意。结论　颅骨成形方法采用梅花瓣式的塑形法 ,可以在术中任意塑造形状。颅缝早闭症一定要扩大颅底才能彻底改变颅骨外形 ,减少以后中面部发育不良。采用钛板加钛条固定颅底和骨瓣 ,即坚强又牢固。     

颅缝早闭症术前三维CT测量及术后评估

目的 探讨术前、术后三维CT重建在颅缝早闭症患儿修复术中的意义.方法 对17例颅缝早闭症者于术前行CT三维重建,并运用计算机测量颅底俯位、颅骨与轴线相交点之间的距离,以及颅长、颅宽,并求出比值.分别对短头、舟状头、斜头(包括颅顶不对称指数)进行测量.将17例中9例术后的三维CT测量结果与术前进行对比.结果 17例颅缝早闭症术前的CT三维重建,短头前移距离在1.5～3 cm.舟状头后缩2～4 cm.斜头则前移后缩2 cm左右,9例术前与术后测量结果相吻合.结论 术前三维cT测量计算,可为颅缝早闭症手术提供颅骨瓣和眶额桥前移的数据及预估手术效果,术后用CT三维重建测量可以评价手术效果.     

先天性颅缝早闭症的治疗

颅缝早闭症是指单一或多个颅缝过早闭合所引起的影响大脑发育和功能的严重先天性疾病。通过对１０例颅缝早闭症的临床表现进行分析，阐述了各种颅缝早闭造成的不同畸形头的特点，详细介绍了各种相应的手术方法，并对颅缝早闭症的病因、手术方法、手术年龄及并发症的处理等进行了讨论。     

先天性颅缝早闭症的治疗

颅缝早闭症是指单一或多个颅缝过早闭合所引起的影响大脑发育和功能的严重先天性疾病。通过对10例颅缝早闭症的临床表现进行分析,阐述了各种颅缝早闭造成的不同畸形头的特点,详细介绍了各种相应的手术方法,并对颅缝早闭症的病因、手术方法、手术年龄及并发症的处理等进行了讨论。     

婴幼儿颅缝早闭的额眶畸形矫正

目的　探讨手术治疗婴幼儿颅缝早闭引起的额眶骨畸形的手术方法和手术时机。方法　采用额骨上眶骨联合截骨塑形前移的手术方法。连续收治了 11名患儿 ,2名女性 ,9名男性 ,年龄 6～ 9个月。其中 ,额缝早闭 6例 ,非综合征性单侧冠状缝早闭 2例 ,多骨缝早闭 1例 ,Apert综合征和Saethre Chotzen综合征累及冠状缝等骨缝早闭各 1例。结果　随访 2～ 11个月 ,均取得满意的矫正效果。其中 1例术后发现颅骨顶部 (非术区 )局部隆起 ,经戴头盔 3个月得以控制。未发生明显并发症。结论　额骨上眶骨联合截骨塑形前移方法能够安全、有效地矫正颅缝早闭引起的额眶发育不良。     

先天性颅缝早闭的颅骨成形—附6例报道

目的 更好的对先天性颅缝早闭的颅骨进行颅骨成形。方法 用多种颅骨瓣旋转，调换及结合梅花瓣骨成形重建颅骨外形。结果 6例患儿均获成功，外形满意，结论 颅骨成形方法采用梅花瓣式的塑形法，可以在术中任意塑造形状，颅缝早闭症一定要扩大颅底才能彻底改变颅骨外形，减少以后中面部发育不良，采用钛板加钛条固定颅度和骨瓣，即坚强又牢固。]     

Craniosynostosis and childbirth

The current management of craniosynostosis is focussed on an affected child who presents with abnormality of the head shape shortly after birth. We report four cases of non-syndromic craniosynostosis, recently seen in a 4-month period, presenting to the Australian Craniofacial Unit (ACFU) where all the mothers had prolonged and difficult labour. This included emergency caesarian section in two cases, and perineal repair in the other two cases. Interestingly, all these women had undergone pre-natal ultrasound examination and critical retrospective review highlighted that craniosynostosis could be observed in their children pre-natally. These cases highlight that children with craniosynostosis at birth can be associated with morbidity of both mother and her child, but this may be preventable as careful review of an ante-natal ultrasound examination tends to reveal craniosynostosis.     

影像学技术在颅缝早闭诊疗中的应用进展

颅缝早闭是一种较为常见的先天性颅面畸形,表现为一条或多条颅缝的过早闭合。尽管患儿的临床表现及病史可为该病的诊断提供一定的依据,但其确诊很大程度上还有赖于影像学的检查结果。影像学技术的发展,对颅缝早闭的诊断及评估有重要临床价值。本文就原发性颅缝早闭的影像学研究现状及进展进行综述。     

Craniosynostosis and ENT

ObjectiveThe aim of the present study was to review the literature on ENT disorders associated with craniosynostosis (CS), focusing on symptoms, diagnostic work-up, treatment and outcome.MethodsPublications were retrieved by consulting the PubMed® free search engine of the US National Library of Medicine. The term “craniosynostosis” was combined with the following key-words: ENT, apneas, OSAS, sleep-disordered breathing, tonsillectomy, deafness, hearing loss.ResultsThe main ENT disorders associated with CS are upper airway obstruction, chronic otitis and hearing loss. Obstructive sleep apnea-hypopnea syndrome (OSAS) is present in 7% to 67% of children suffering from CS and mainly results from midface stenosis with narrow nasal and rhinopharyngeal cavities. OSAS is diagnosed on polysomnography and airway obstruction levels are determined on wake or drug-induced sleep endoscopy and on CT or MRI. OSAS treatment can be surgical (mainly midface advancement, adenoidectomy and tonsillectomy, tracheostomy) or non-surgical (non-invasive ventilation, nasopharyngeal airway). Hearing impairment is frequently associated with CS. Its main cause is otitis media with effusion (OME) but ossicular malformations and sensorineural hearing loss (SNHL) are sometimes observed. SNHL is mostly found in Muenke syndrome. In view of the frequency and potential severity of these disorders into account, yearly ENT visits are recommended in children presenting with CS.     

颅缝早闭症相关实验荧光定量PCR内参基因的选择研究

目的探讨用于颅缝早闭症相关实验的荧光定量PCR的最佳内参基因。方法应用与颅骨成骨、颅缝闭合相关的3组实验标本,分别为:Fgfr2cC342Y/+Crouzon综合征小鼠颅缝组织、颅缝早闭患者体外培养颅缝原代细胞和体外培养的小鼠Kusa 4b 10成骨细胞株。以常用的候选管家基因作为研究对象,利用geNorm软件对RT-qPCR结果进行比较分析,以筛选出在不同组织细胞中表达最为稳定的管家基因作为内参。结果Fgfr2cC342Y/+小鼠颅缝组织,Cyc1-Gapdh-Canx为最佳组合;颅缝早闭症患者体外培养颅缝原代细胞,18S rRNA和ATP5B为最佳组合;体外培养的小鼠Kusa 4b10成骨细胞株,18S rRNA和Canx为最佳组合。选择不同内参基因对目的基因RT-qPCR的结果影响显著。结论在设计RT-qPCR实验之前,应针对所选择的标本类型与种类进行管家基因稳定性分析,以增加结果的可信度。     

Recent Advances in Molecular Genetics of Colorectal Cancer

APC gene and mismatch repair genes. The role of these genes in colorectal carcinogenesis has been studied intensively. The adenoma–carcinoma sequence was initially proposed by Vogelstein, and the multistep carcinogenesis theory is now well accepted. The various functions of the APC gene have been elucidated. APC genes are considered to play a role in shedding of the epithelial cells into the lumen. The mechanism behind formation of a unicryptal adenoma is now better understood. Adenoma formation is a monoclonal event with two hits of the APC gene. There is no zonal extension of the proliferative zone in the background colonic mucosa of FAP patients. In addition to the adenoma–carcinoma sequence, there seem to be various carcinogenetic pathways in the development of colorectal cancer. A depressed type of early cancer was recently found by the use of magnifying endoscopy. The incidence of K- ras mutation was extremely low in this group of early cancers. Some of the minute cancers show the p53 mutation before the occurrence of APC mutation. Cancers of microsatellite mutator phenotype show exaggerated genomic instability at simple repeat sequences, such as TGFβRII. These genes may play a suppressor role in a p53 independent pathway of colorectal carcinogenesis. We are now in an exciting era of this progressing field of science. This genetic information may be more widely applicable clinically in the near future (e.g., for presymptomatic diagnosis, selection of patients for the most appropriate treatments, and assessment of malignant potential).