论提高健康投资效率的最优选择

我国目前正处在健康体制改革的关键时期．把有限的健康资金用于初级健康保障领域，还是继续投入到大病统筹医疗保险．将决定未来我国健康体制的投资绩效。在现行健康保障制度下．我国公共卫生支出规模小、投入结构不合理加重了城乡居民的健康负担；医疗服务可及性低、公平性差导致居民健康产出水平低、医疗服务满意度差。并造成巨大的人力资本损耗和经济损失。在我国现有财力水平下．作为卫生领域的主要参与主体，政府应该逐步提高公共卫生支出规模、改变现有卫生筹资模式．将公共健康资金更多的投入于具有广覆盖、低投入、高产出的初级健康服务领域。这是实现健康公平性、减轻民众健康负担和提高健康投资效率、提高民众健康产出的有效途径。     

Molecular analysis of genomic DNA allows rapid,and accurate,prenatal diagnosis of peroxisomal D-bifunctional protein deficiency

Prenatal diagnosis was requested for a couple with a previous child affected by the peroxisomal disorder D-bifunctional protein deficiency. Prior analysis of the D-bifunctional protein cDNA sequence from the propositus had shown that it was missing 22 bp. This was subsequently attributed to a point mutation in the intron 5 donor site (IVS5+1G>C) of the D-bifunctional protein gene. Consistent with parental consanguinity, the patient was shown to be homozygous for this mutation, which is associated with loss of a Hph 1 restriction site in the genomic sequence. Prenatal testing of the fetus using genomic DNA isolated from uncultured amniocytes indicated that both alleles of the D-bifunctional protein had the IVS5+1G>C substitution. The peroxisomal defect was later confirmed biochemically using cultured amniocytes, which were found to have elevated levels of very long chain fatty acids (VLCFA). This is the first report of prenatal diagnosis of D-bifunctional protein deficiency using molecular analysis of genomic DNA. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis of Pierre–Robin sequence as part of Stickler syndrome

Stickler syndrome or hereditary progressive arthro-ophthalmopathy, is an autosomal dominant condition characterized by ocular manifestations, arthritic changes, orofacial features and deafness, in variable degrees. We report the first case of prenatal diagnosis of Stickler syndrome in a child with a Pierre–Robin sequence (PRS) causing a polyhydramnios. When isolated polyhydramnios is not explained by immunological, metabolic or infectious causes, swallowing difficulty due to PRS must be considered. As PRS is aetiologically heterogenous, the prognosis depends on the cause. Genetic investigations and familial history must be taken into account. Here, in a context of familial Stickler syndrome, making the prenatal diagnosis of PRS as part of Stickler syndrome allowed us to reassure the parents and to anticipate airway trouble at the child's birth. Copyright © 2002 John Wiley & Sons, Ltd.