Medico-genetic study of residents of Marii El republic: burden of hereditary diseases in four regions of the republic

A medical genetic study of Orshanskii, Morkinskii, Sovetskii, and Semurskii raions (districts) of the Marii El Republic was performed. The total number of subjects examined was 115,743. Meadow Maris and Russians accounted for the most part of the populations of the districts studied. A total of 147 families with presumably autosomal dominant (AD) pathology and 150 families with presumably autosomal recessive (AR) or X-linked pathology (270 and 169 affected persons, respectively) were revealed. Segregation analysis demonstrated a good agreement between the observed and expected segregation frequencies for both AR and AD diseases, as well as a considerable number of sporadic cases of presumably AD diseases. The incidence of hereditary diseases was estimated separately for different population groups. Significant differences in this incidence were revealed between the urban and rural, as well as between the Russian and Mari populations; the average incidence was 2.33 affected subjects per 1000 people. The incidence of AR diseases was significantly higher in Maris than in Russians (1.34 x 10(-3) and 0.82 x 10(-3), respectively). The populations studied exhibited a significant, high correlation between the incidence of AR diseases and the levels of random and local inbreeding. The incidence of X-linked recessive diseases was approximately the same as in Russian populations studied earlier. Its average value was 0.5 per 1000 men; the incidence in the Mari and Russian populations did not differ significantly. The higher AD incidence in the total population studied and the higher AR incidence in the Meadow Mari population compared to the populations studied earlier are discussed.     

Inhibition of penicillin acylase from Escherichia coli by benzylalkylketones and benzylalkylcarbinols

A number of benzylalkylketones and benzylalkylcarbinols have been synthesized as non-hydrolizable substrate analogues of penicillin acylase (EC 3.5.1.11), and their affinity to the enzyme has been studied. The compounds with plane trigonal carbonyl group (ketones) were established to has bind to the enzyme 20-40 times more tightly than their tetrahedral counterparts with a hydroxyl function (carbinols). 4-Oxo-5-phenylpentanoic acid was found to be one of the most potent reversible competitive inhibitors of penicillin acylase with Ki-31 microM.     

Testosterone treatment in men with erectile disorder and low levels of total testosterone in serum

Since decreased serum levels of testosterone (T) do not necessarily predict good outcome of testosterone treatment for erectile disorder, the purpose, of this study was to determine which men with erectile disorder and decreased serum levels might benefit from treatment. From a sample of 31 men (mean age = 39 years), 15 (48%) with erectile disorder and decreased serum levels of T responded well after 8 weeks of testosterone treatment (100 mg of testosterone propionate in the sustained-release form given im once a week). Good treatment outcome was associated with several variables, but only high levels of luteinizing hormone (LH) and low values of the T/LH (testosterone/LH) ratio consistently emerged as significant correlates and/or predictors of effective treatment. Levels of LH above 7.5 IU/L or the values of the T/LH ratio equal to or below 0.87 nmol/IU in patients with erectile disorder and decreased serum levels of T suggest that testosterone treatment may be effective.     

Effects of psychological status on external respiration in patients operated for nonspecific lung diseases

Psychological tests and spirometry were used in examination of 39 patients operated on for severe chronic nonspecific pulmonary diseases. It was found that external respiration function was impaired more in emotionally strained subjects. Improvement of the external respiration coincided with diminution of hypochondria, positive changes in psychological status as a whole.     

Use of Naclof in combined intervention for cataract and glaucoma

Two aspects of using eye drops of a nonsteroid antiinflammatory drug Naclof (sodium diclofenac) are analyzed: maintenance of mydriasis during an intervention (extracapsular cataract extraction with implantation of an intraocular lens and trabeculectomy and arrest of postoperative inflammation. The study was carried out in 40 patients, 20 of which were controls. In the naclof group the diameter of the pupil during the intervention was reliably larger, exudative inflammatory reactions were rarer, and the postoperative vision acuity higher. Hence, naclof is effective in combined interventions for cataract and glaucoma.     

Evaluation of different rodenticidal baits against rodent population in cucumber (Cucumis sativus) crop fields

The baits used consisted of 2% zinc phosphide and 0.005% bromadiolone. The baitings were carried out at the flowering stage of cucumber crop. Double baiting treatments comprising zinc phosphide and bromadiolone in different combinations resulted in better reduction of rodent population and crop damage. Deployment of different rodenticidal treatments saved yield loss from 7.00 to 11.82q/ha. Thus, accomplishing cost benefit ratio of 1:88 to 1:107. Bromadiolone followed by bromadiolone, the most profitable combination is suggested for control of rodent population in cucumber crop fields.