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.     

Endoscopic photographic comparison of drug delivery by ear-drops and by aerosol spray

The Otomize (Stafford-Miller Ltd) aerosol spray is a new device for delivering topical ear medication in otitis externa. Both the manufacturers and a recent study have claimed that the spray produces better coverage of the external ear canal than do traditional ear-drops. We performed an endoscopic photographic comparison study to investigate this claim. The area of tympanic membrane and ear canal covered with medication was greater in those ears treated with the aerosol (P < 0.001, paired t-test). The ability of the aerosol to deliver drug to the level of the tympanic membrane suggests a possible role for this device in the treatment of chronic otitis media. The technique of endoscopic photography provides an objective and reproducible means of investigating drug delivery systems for otological conditions.     

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。     

Subgroups of smokers with different success rates after use of transdermal nicotine

To identify subgroups of smokers with different success rates, we applied "tree-structured survival analysis" (TSSA) to data from a previously published trial of transdermal nicotine. The subjects who received active treatment (14 mg patch, n 275, or the 21 mg patch, n 262) constituted the sample for this analysis. Using age, gender, the Fagerstrom Tolerance Questionnaire (FTQ), motivation to quit, number of cigarettes smoked at baseline, and body mass index (BMI) as classification variables, TSSA identified two subgroups within the 14 mg patch group and four subgroups of smokers within the 21 mg patch group. Among those receiving the 14 mg patch, individuals with a BMI greater than 26.4 kg/m relapsed sooner than did those with a BMI less than or equal to this value. Within the 21 mg patch group, the survival curve for males was significantly different from that observed in females, with males experiencing a longer time to relapse after treatment than did females. Among males, those who were less dependent relapsed significantly later than did those men who were more dependent. Among females, those with a higher motivation to quit relapsed more slowly than did those women with less motivation to quit. This information may be helpful to clinicians seeking to match specific patients to specific treatments with transdermal nicotine in order to maximize treatment outcomes.     

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.      

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.