Primary tuberculous nasal polypi—A case report

Primary tuberculous pathology in nasolpolypi is a rare condition. A case of bilateral ethmoidal polypi with tubercular lesion diagnosed on histopathologlcal examination is being reported and the available relevant literature has been reviewed.     

糖化血清蛋白测定对糖尿病监控临床意义的探讨

目的：对临床确诊糖尿病患同时测定血清葡萄糖(Glu)及糖化血清蛋白(GSP)的含量，观察二的关系，以及糖化血清蛋白水平对于评价近期(2—3周)糖尿病患血糖在体内变化的临床意义进行了观察。方法：血清葡萄糖、糖化血清蛋白测定均采用酶法测定。结果：178例糖尿病患Glu、GSP均正常3l例占17．4％；Glu、GSP均增高107例占60．1％；Glu正常、GSP增高15例占8．43％；Glu增高、GSP正常25例占14％。结论：糖化血清蛋白的含量不受即时血糖的影响，二的变化不成比例性，对评价糖尿病患2～3周病情的控制是一项灵敏可靠的指标，尤其对于住院病人的治疗与监控有一定的意义。     

Oral cancer induced in hamsters with herpes simplex infection and simulated snuff dipping

A number of epidemiologic studies indicate that snuff dipping is associated with an increased incidence of oral cancer in human beings. Since inactivated herpes simplex virus (HSV) has been shown to induce malignant changes in vitro and in vivo and is partially inactivated by snuff water extract, we examined the histopathologic changes of hamster buccal pouches after exposure to repeated HSV inoculation combined with long-term simulated snuff dipping. One hundred twenty-five Syrian hamsters were divided into seven groups, and the buccal pouches were inoculated with HSV-1, HSV-2, or culture medium. The mock and HSV inoculations were done once a month for 6 consecutive months. In an effort to determine the effect of snuff on the mock- or HSV-inoculated buccal pouches, a consistent amount of a commercially available snuff was placed into both the right and left pouches twice a day in half of the animals. At the end of the 6 months of simulated snuff dipping (4 weeks after the final mock or viral inoculation), the hamsters were killed and the buccal pouches were removed for the histopathologic evaluation. Neither simulated snuff dipping nor HSV infection alone induced neoplastic changes in hamster buccal pouches. However, HSV infection in combination with simulated snuff dipping resulted in epithelial dysplasia and invasive squamous cell carcinoma in more than 50% of the animals.     

Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees

Steroid 21-hydroxylase deficiency is among the most common inborn errors of metabolism in man. Characterization of mutations in the 21- hydroxylase gene (CYP21) has permitted genetic diagnosis, facilitated by the polymerase chain reaction (PCR). The most common mutation is conversion of an A or C at nt656 to a G in the second intron causing aberrant splicing of mRNA. Homozygosity for nt656G is associated with profoundly deficient adrenal cortisol and aldosterone synthesis, secondary hypersecretion of adrenal androgens, and a severe form of congenital adrenal hyperplasia (CAH) characterized by ambiguous genitalia and/or sodium wasting in newborns. During the course of genetic analysis of CYP21 mutations in CAH families, we and others have noticed a number of relatives genotyped as nt656G homozygotes, yet showing no clinical signs of disease. A number of lines of evidence have led us to propose that the putative asymptomatic nt656G/G individuals are incorrectly typed due to dropout of one haplotype during PCR amplification of CYP21. For prenatal diagnosis, we recommend that microsatellite typing be used as a supplement to CYP21 genotyping in order to resolve ambiguities at nt656.      

Correlation between the presence of anti HPV33 VLP antibodies and HPV DNA in cervical neoplasia patients

Summary. The L1 capsid proteins derived from human papillomavirus (HPV) type 33 were expressed in a recombinant baculovirus system using Sf9 insect cells. Selected sera originating in women from case-control study carried out in Spain and Colombia found negative and positive for HPV16, 18, 31, 33 and 35 DNA were tested in ELISA for the presence of IgG antibodies to purified virus-like particles (VLP). The reactivity was type-restricted with the possible exception of HPV31. Received July 4, 1996 Accepted September 17, 1996     

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.