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.     

Head injuries in infants and children: Measures to reduce mortality and morbidity in road accidents

In the 6-year period from 1983 to 1988, 12 infants (<24 months of age) and 103 children (2 to 14 years of age) were killed in road crashes in South Australia. This represents an annual incidence of 6.4 deaths per 100,000 children at risk. At least 4 other children were killed in off-road vehicle-related accidents. Of these deaths, approximately half were car passengers, one third pedestrians, and one sixth pedal cyclists. Most of these infants and children died at the accident site or soon after, but 26 of them survived long enough to be admitted to hospitals with neurosurgical units and an audit of these patients suggests that there were at least 3 preventable deaths. However, autopsies of 78 patients show that the great majority of these deaths resulted from devastating brain and/or trunk visceral injuries. Better emergency care and the use of neurosurgical retrieval teams may save some lives. But more lives might be saved by the use of appropriate restraints for infants and children in cars, by reducing the exposure of child pedestrians and cyclists to road traffic, and by mandatory use of helmets by child cyclists. Off-road vehicular accidents are not as a rule included in road crash statistics; the practice of giving small motorcycles to young children has created a new category of vehicular accidents sometimes causing severe head injury.

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Resumen En el período de seis anños 1983–1988, murieron 12 infantes (edades menores de 24 meses) y 103 niños (edades 2–14 años) en accidentes viales en el Sur de Australia, lo cual representa una incidencia anual de 6.4 muertes por 100,000 miños en riesgo. Por lo menos cuatro niños más murieron en accidentes fuera de carreteras pero relacionados con automotores. De tales muertes, approximadamente la mitad correspondió a pasajeros en carros, una tercera parte a peatones y una sexta parte a ciclistas. La mayoría murió en el lugar del accidente o poco tiempo después, pero 26 sobrevivieron un tiempo sufiente para ser hospitalizados en instituciones con unidades neurológicas; una auditoría de tales casos sugiere que por lo menos hubo tres muertes prevenibles. Sin embargo, la autopsia de 78 casos demostró que la mayoría de estas muertes se debió a lesiones devastadores del cerebro y/o las vísceras corporales. Mejores servicios de urgencia y la utilización de equipos de resucitación neuroquirúrgica pueden salvar algunas vidas, pero más vidas pueden ser salvadas mediante el uso de sistemas adecuados de seguridad para infantes y para niños instalados en los carros, reduciendo la exposición de peatones y ciclistas infantiles al tráfico víal y mediante el uso obligatorio de cascos por los ciclistas infantiles. Los accidentes que ocurren por fuera de las carreteras generalmente no son incluídos en las estadísticas de siniestros víales; la costumbre de obsequiar pequeñas motocicletas a niños pequeños ha creado una nueva categoría de accidentes vehículares que en ocasiones causan grave trauma craneano.

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Résumé Pendant la période de six ans allant de 1983 à 1988, 12 enfants âgés de moins de 24 mois et 103 enfants âgés de 2 à 14 ans ont été tués dans un accident de la route en Australie du Sud. Ceci représente une incidence annuelle de 6.4 morts par 100,000 enfants à risque. Au moins quatre autres enfants ont été dans un accident dû à un véhicule motorisé mais hors de la route. Parmi ces morts, la moitié, environ, était des passagers de la voiture, un tiers, des piétons, et un sixième, des cyclistes. La plupart sont morts sur le lieu de l'accident, mais 26 ont survécu suffisamment pour être transportés dans un Hôpital comportant une service de neurochirurgie avant de décéder. Une évaluation de ces accidents mortels a montré qu'au moins trois décès eux étaient évitables. L'autopsie de 78 de ces enfants a démontré que la plupart des décès étaient dus soit à des lésions cérébrales, soit à des lésions viscérales ou du tronc. De meilleurs soins en urgence, et un meilleur déploiment des équipes neurochirurgicales pourraient éviter quelques morts, mais aussi, un certain nombre de morts pourraient être évitées en utilisant correctement less ceintures de sécurité adaptées aux enfants dans les voitures, en réduisant l'exposition aux accidents de ces enfants, ainsi qu'en rendant obligatoire le port de casque pour les enfants se déplacant à vélo. Les accidents qui n'ont pas lieu sur les routes ne sont pas habituelement inclus dans ces statistiques. La croissance de l'utilisation de petits véhicules motorisés par de très jeunes enfants a créé une nouvelle catégorie d'accidents pouvant parfois être responsables de traumatismes crâniens graves.

     

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。     

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.      

Glycoproteins present in human follicular fluid that inhibit the zona- binding capacity of spermatozoa

Previous studies have suggested that human follicular fluid contains factors that reduce the zona-binding capacity of spermatozoa. The present study provides further evidence of the existence of such factors. Using the hemizona binding assay (HZA), we have shown that the inhibitory effect of human follicular fluid on the zona-binding capacity of spermatozoa is concentration-dependent, an inhibitory effect being detected when the concentration of human follicular fluid was > or = 10%. A 1% concentration of human follicular fluid did not possess this inhibitory activity. Heating human follicular fluid at 56 degrees C for 30 min did not affect its inhibitory properties; treatment with proteinase-K abolished such inhibition. Human follicular fluid was fractionated sequentially by concanavalin-A affinity chromatography, Mono Q ion-exchange chromatography and Superose-12 gel filtration. The zona binding inhibitory activity resided in the fraction which bound to the lectin and Mono Q column and contained molecules with native molecular weights of 32 and 192 kDa. Sodium dodecyl sulphate-polyacrylamide gel electrophoresis analysis suggested that the 192 kDa glycoprotein was a tetramer, while the 32 kDa glycoprotein remained as a single molecular species under denaturing conditions. We conclude that two glycoproteins were responsible for the zona binding inhibitory activity of human follicular fluid. The physiological role of these factors remains unclear.      

Patterns of contrast enhancement of benign and malignant hepatic neoplasms during bolus dynamic and delayed CT

Bolus dynamic and delayed computed tomographic (CT) scans of the liver were evaluated in 43 patients with 54 hepatic hemangiomas and 111 patients with primary or secondary malignant hepatic neoplasms. Twelve patterns of contrast enhancement were recognized during the bolus dynamic phase and delayed scanning. A "typical" CT pattern for hemangiomas (present in 29 of 54 hemangiomas [53.7%]) was established: (a) diminished attenuation prior to intravenous contrast medium administration (excluding lesions arising in a liver with diffuse fatty infiltration), (b) peripheral contrast enhancement during the bolus dynamic phase, and (c) complete isodense fill-in on delayed scan images. Using these criteria, we distinguished hemangiomas from malignant neoplasms in most patients. Only one of 63 (1.6%) malignant neoplasms manifested these typical CT criteria of hemangioma. There is an 86% chance that a lesion with the typical CT appearance of hemangioma is actually a hemangioma, even when found in a patient with a known nonhepatic primary neoplasm.