Sandy J R
Division of Child Dental Health, University of Bristol Dental School, Lower Maudlin Street, Bristol, BS1 2LY.
Surgeon. 2003 Feb;1(1):9-16. doi: 10.1016/s1479-666x(03)80003-3.
The oral facial complex in man appears to be exquisitively sensitive to genetic and environmental influences which is why clefts of the palate are the most common congenital birth anomaly. The development of the palate starts at about the 6th week of inter-uterine life and requires development of the palatal shelves from the maxillary processes of the first arch, shelf elevation, medial edge epithelial breakdown and mesenchyme flow with subsequent establishment of osteogenic and myogenic blastemata. This significant level of matrix turnover is partly regulated by the matrix metalloproteinases and potentially this could be affected by abnormalities in gene function. This may represent a common mechanism for a variety of different genes associated with clefting of the palate. The measurement of outcomes for children born with a cleft requires a wide input from a variety of specialities. The development of these outcome measures requires rigorous testing and validation, but it is now possible to use a variety of outcome measures to establish clinical standards and this has been done nationally. The impact of identifying a need for a change in organisation of service delivery was probably underestimated. It is clear that the current organisations in the National Health Service struggle to implement change, even with a detailed study and hard evidence. Reasons for this are outlined and a potential harder hitting strategy for effecting this change is outlined. The move towards primary care trusts within the latest reorganisation of the Health Service is potentially extremely damaging for specialised services for low incidence anomalies.
人类的口腔面部复合体似乎对遗传和环境影响极为敏感，这就是腭裂成为最常见先天性出生缺陷的原因。腭部发育始于子宫内生活约第6周，需要第一鳃弓上颌突的腭突发育、突的抬高、内侧边缘上皮破裂以及间充质流动，随后形成成骨和生肌胚基。这种显著的基质更新水平部分受基质金属蛋白酶调节，基因功能异常可能会对此产生影响。这可能是与腭裂相关的多种不同基因的共同机制。对腭裂患儿预后的评估需要多个专业领域的广泛参与。这些预后评估指标的制定需要严格测试和验证，但现在可以使用多种预后评估指标来确立临床标准，并且这已在全国范围内实施。对服务提供组织变革需求的认识可能被低估了。显然，即使有详细研究和确凿证据，英国国民医疗服务体系（National Health Service）目前的组织架构也难以实施变革。文中概述了其中的原因，并提出了一项可能更有力的实现变革的策略。在最新的医疗服务重组中向初级保健信托的转变，对低发病率异常的专科服务可能极具破坏性。
