研究结果的解释和报告

科学研究的目标是创造和传播知识。这得通过对系统收集以及报告信息的批判性分析来完成。批判性分析始于一个简单的步骤，即在运用复杂统计学分析方法进行比较之前对所收集的数据进行深入检查。根据所收集的数据类型按照标准化方式进行统计学分析。在为解决研究问题而需采用合理、标准化步骤进行比较时，新知识就产生了，同时要避免错误的结论。在对数据进行仔细检查和分析之后，为了保证结论的正确性，再对数据进行一次批判性评论是非常重要的补充步骤。在科学文献中发表研究成果过程中涉及的同行评价对于传播新知识并保证其质量方面是一个非常重要的步骤。如果没有将研究成果发表供同行参考，这项研究就不算完整。     

Hydrocephalus in an achondroplastic child treated by venous decompression at the jugular foramen. Case report

A 10-month-old child with achondroplasia with progressive head enlargement, ventriculomegaly, and wide subarachnoid spaces over the hemispheres was referred for evaluation. A steady-state lumbar infusion test revealed increased cerebrospinal fluid (CSF) outflow resistance (14 mm Hg/ml/min), and intra-arterial digital subtraction angiography (DSA) demonstrated bilateral venous outflow obstruction due to stenosis of the jugular foramen. Surgical decompression by opening the right jugular foramen relieved the clinical signs of intracranial hypertension. During the following year, the patient's head enlargement was moderate with relative normalization of size. Repeat DSA demonstrated improved venous runoff on the right side, and a steady-state lumbar infusion test demonstrated reduced CSF outflow resistance (10 mm Hg/ml/min). Venous decompression is causal therapy and may prove to be preferable to shunting in children with hydrocephalus and bilateral stenosis of the jugular foramen.     

Occupational airborne exposure of the general population of a Norwegian county.

Occupational airborne exposure was examined for a stratified sample (N = 1275) of the general population aged 18-73 years in Hordaland County, Norway. The subjects identified all jobs of more than six months since leaving school and stated whether they had been occupationally exposed to specific agents and work processes potentially harmful to the lungs. The prevalence in the population ever having been exposed was 18% for asbestos, 9% for quartz, 5% for aluminum dust, 6% for wood dust, 12% for metal gases, 12% for welding, 9% for soldering, and 1% for hairdressing. According to occupational title (last job), 3% of the population had held a job with a high degree of airborne exposure, 26% a job with moderate exposure, and 70% a job with no airborne exposure. During their worklife both the men and the women tended to leave polluted jobs more often than unpolluted jobs. Occupational exposure to airborne pollutants potentially harmful to the lungs is widespread in this Norwegian general population.     

Distribution of spermatogenesis in the testicles of azoospermic men: the presence or absence of spermatids in the testes of men with germinal failure [published erratum appears in Hum Reprod 1998 Mar;13(3):780]

The aim of the study was to determine whether a prior diagnostic testicle biopsy can predict success or failure of testicular sperm extraction (TESE) with intracytoplasmic sperm injection (ICSI) in patients with non-obstructive azoospermia caused by testicular failure, and what is the minimum threshold of sperm production in the testis which must be surpassed for spermatozoa to reach the ejaculate. Forty- five patients with non-obstructive azoospermia caused by testicular failure underwent diagnostic testicle biopsy prior to a planned future TESE-ICSI procedure. The diagnostic testicle biopsy was analysed quantitatively, and correlated with the quantitative findings of spermatogenesis in patients with normal spermatogenesis, as well as with the results of subsequent attempts at TESE-ICSI. Men with non- obstructive azoospermia caused by germinal failure had a mean of 0-6 mature spermatids/seminiferous tubule seen on a diagnostic testicle biopsy, compared to 17-35 mature spermatids/tubule in men with normal spermatogenesis and obstructive azoospermia. These findings were the same for all types of testicular failure whether Sertoli cell only, maturation arrest, cryptorchidism, or post-chemotherapy azoospermia. Twenty-two of 26 men with mature spermatids found in the prior testis biopsy had successful retrieval of spermatozoa for ICSI, 12 of their partners became pregnant, and are either ongoing or delivered. The study suggests that 4-6 mature spermatids/tubule must be present in the testis biopsy for any spermatozoa to reach the ejaculate. More than half of azoospermic patients with germinal failure have minute foci of spermatogenesis which are insufficient to produce spermatozoa in the ejaculate. Prior diagnostic testicle biopsy analysed quantitatively (for the presence of mature spermatids) can predict subsequent success or failure with TESE-ICSI. Incomplete testicular failure may involve a sparse multi-focal distribution of spermatogenesis throughout the entire testicle, rather than a regional distribution. Therefore, it is possible that massive testicular sampling from many different regions of the testes may not be necessary for successful TESE-ICSI.      

Adhesion inhibitory activity of β-lactoglobulin isolated from infant formulae

β-Lactoglobulin was isolated from infant formulae that were ultra high temperature (UHT) -treated, sterilized or spray-dried. The effect of the isolated β-lactoglobulin on SfaII-fimbriae-mediated adhesion of Escherichia coli to human ileostomy glycoproteins was studied in vitro. β-Lactoglobulin isolated from sterilized formulae was found to perform significantly less well than preparations from spray-dried formulae (p = 0:05). Great heterogeneity was observed in the adhesion inhibitory capacity of β-lactoglobulin isolated from UHT-treated formulae. Therefore, no significant difference was observed between UHT-treated and sterilized formulae or spray-dried formulae (p < 0:10). It can be hypothesized that β-lactoglobulin from spray-dried and some UHT-treated infant formulae may affect the colonization of mucous membranes by E. coli strains causing neonatal septicaemia and meningitis.     

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy

The dominant cone-rod dystrophy gene CORD6 has previously been mapped to within an 8 cM interval on chromosome 17p12-p13. The retinal- specific guanylate cyclase gene (RETGC-1), which maps to within this genetic interval and previously was implicated in Leber's congenital amaurosis, was screened for mutations within this family and in a panel of small families and individuals with various cone and cone- rod dystrophy phenotypes. A missense mutation (E837D) was identified in affected members of the CORD6 family, as well as a second missense mutation (R838C) in three other families with dominant cone-rod dystrophy. RETGC-1 is only the fourth gene to be implicated in cone-rod dystrophy and this is the first report of dominant mutations in this gene.      

The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis

Tuberous sclerosis is an autosomal dominant trait in which the dysregulation of cellular proliferation and differentiation results in the development of hamartomatous growths in many organs. The TSC2 gene is one of two genes determining tuberous sclerosis. Inactivating germline mutations of TSC2 in patients with tuberous sclerosis and somatic loss of heterozygosity at the TSC2 locus in the associated hamartomas indicate that TSC2 functions as a tumour suppressor gene and that loss of function is critical to expression of the tuberous sclerosis phenotype. The TSC2 product, tuberin, has a region of homology with the GTPase activating protein rap1GAP and stimulates the GTPase activity of rap1a and rab5a in vitro. Here we show that the region of homology between tuberin and human rap1GAP and the murine GAP mSpa1 is more extensive than previously reported and spans approximately 160 amino acid residues encoded within exons 34-38 of the TSC2 gene. Single strand conformation polymorphism analysis of these exons in 173 unrelated patients with tuberous sclerosis and direct sequencing of variant conformers together with study of additional family members enabled characterisation of disease associated mutations in 14 cases. Missense mutations, which occurred in exons 36, 37 and 38 were identified in eight cases, four of whom shared the same recurrent change P1675L. Each of the five different missense mutations identified was shown to occur de novo in at least one sporadic case of tuberous sclerosis. The high proportion of missense mutations detected in the region of the TSC2 gene encoding the GAP-related domain supports its key role in the regulation of cellular growth.