Spectrin-alpha I/61: a new structural variant of alpha-spectrin in a double-heterozygous form of hereditary pyropoikilocytosis

Recent biochemical studies have led to the identification of abnormal spectrins in the erythrocytes of patients with hereditary pyropoikilocytosis (HPP) and hereditary elliptocytosis (HE). In this report we describe the biochemical characterization of the erythrocytes from a proband with severe HPP who is doubly heterozygous for two mutant spectrins (Sp): Sp alpha I/74 and a new, previously undetected, mutant of alpha-spectrin designated Sp alpha I/61. The proband's erythrocytes are unstable when exposed to 45 degrees C, and her membrane skeletons exhibit instability to shear stress. The content of spectrin in the proband's erythrocyte membranes is decreased to 75% of control values. The amount of spectrin dimers in crude 4 degrees C spectrin extracts is increased (58%) as compared with control values (6% +/- 4%). Limited tryptic digestion reveals a marked decrease in the normal 80,000-dalton alpha I domain, an increase in the 74,000-dalton fragment that is characteristic of Sp alpha I/74, and an increase in a series of new fragments of 61,000, 55,000, 21,000, and 16,000 daltons. Both parents are asymptomatic, but they have increased amounts of spectrin dimers (17% to 25%). Limited tryptic digestion of the father's spectrin demonstrates the presence of a previously identified abnormal spectrin (Sp alpha I/74) that is characterized by a decrease in content of the 80,000-dalton peptide and an increase in concentration of the 74,000-dalton peptide. The mother's spectrin digests show a decrease in the amount of 80,000-dalton peptide and the formation of new peptides of 61,000, 55,000, 21,000, and 16,000 daltons. The data indicate that this severe form of HPP is due to the inheritance of two distinct abnormal spectrins, Sp alpha I/74 and a new spectrin mutant, Sp alpha I/61.     

Effect of age on development of tumours in the intrasplenic ovarian grafts in ovariectomized rats

Summary Female rats at the age of 1, 3, and 14–16 months (young, adult and old groups respectively) were bilaterally ovariectomized and one of the removed ovaries was autoimplanted into the spleen. The total intrasplenic ovarian tumour incidence was equal in the rats subjected to the operation at 3 and 14–16 months (77.4% and 80.6% respectively) and tumours developed more frequently in rats exposed to surgery at the age of 1 month (94.5%),P<0.05. The incidence of Sertoli and Leydig cell tumours was increased and their latency was decreased in the old group in comparison to the adult one. In rats exposed to the operation at the age of 3 months, granulosotheca cell tumours developed more frequently than other tumour types, and in the young group thecomas were discovered more often than in both older groups. Dysgerminomas and luteomas were discovered only in intrasplenic grafts of rats of the young group. It is supposed that the differences in structure and proliferative activity of various ovarian tissues between young, adult and old rats at the moment of intrasplenic transplantation, as well as the differences in their response to gonadotropic stimulation play a significant role in the development of ovarian tumours of varied histogenesis in the intrasplenic ovarian grafts.     

Paraurethral cyst and/or urethral diverticulum--differential diagnosis

From 2003 to 2006 we examined and treated 73 females with paraurethral lesions. The differential diagnosis was made using gynecological and US examinations, urethral profilometry, miction cystourethrography, high-pressure urethrography, MR imaging. All the patients have undergone extirpation of paraurethral cyst/diverticulectomy. The diagnosis of paraurethral lesions should be made with application of all available methods. Gynecological examination is the first procedure in complex diagnostic investigation, ultrasound must be also used in all the patients with addition of x-ray in case of insufficient data. MR imaging is used in large size of paraurethral lesions, their connection with urethra. Treatment of such patients is surgical.     

Raising the sensitivity threshold of the hypothalamohypophyseal system to the homeostatic action of estrogens in rats with transplanted tumors]

Daily injections of 0.57 mKg of diethylstylboestrol-propionate in hemicastrated female rats inhibited the compensatory ovarian hypertrophy in control animals by 50%, and in rats with transplanted homologous fat-muscular tissue--by 4-%. In animals with subcutaneously transplanted Walker carcinoma-256, sarcome-45 and Pliss lymphosarcome this effect of estrogens was not manifested at all. The data obtained appear to evidence an increased threshold of sensitivity of the hypothalamol-hypophyseal system to a suppressing effect of estrogens in animals during the process of growth of transplantable tumors.     

Increased tumour incidence and skin tumour promotion in two generations of descendants of 7,12-dimethylbenz[a]anthracene-treated pregnant mice

Many experiments suggest the possibility of hereditary transmission of a predisposition to developing cancer. If this is the case, the progeny of animals exposed to carcinogens during embryogenesis should bear initiated cells. In order to examine this possibility, offspring of mice exposed to 7,12-dimethyl-benz[a]anthracene in utero were treated cutaneously with a tumour promoter, 12-O-tetradecanoylphorbol-13-acetate. This treatment resulted in the development of skin tumours, i.e., papillomas and carcinomas. Moreover, various tumours also developed in many internal organs, and particularly in the lung. These findings suggest that exposure to carcinogens may not only increase cancer risk in subsequent generations, but also considerably reinforce sensitivity to tumour-promoting factors, which by themselves may pose no threat to an unexposed population.     

NON-PENETRATING DEEP SCLERECTOMY AND CATARACT EXTRACTION IN TERMS OF MOBILE CLINIC ON RIVER SHIPBORD AND MICROBUS TRAVELLING

The quantity of patients with terminal glaucoma, overripe cataracts and other neglected eye pathology increases that in its turn leads to the increase of the growth in number of sight invalids. These patients face the great difficulties visiting doctors due to the lack of infrastructure in the cities. The residents of the settlements situated far from the central clinics are in the position even more difficult. It is known that over 70 per cents of