CFTR mutations and reproductive outcomes in a population isolate

Multiple hypotheses have been proposed to explain the high incidence of cystic fibrosis in Caucasian populations. Most rely on a fitness advantage to carriers of CF mutations, either through increased resistance to infectious disease, such as cholera, or through increased fertility. In this study we tested the latter hypothesis in the Hutterites of South Dakota, a genetic isolate with a relatively high CF carrier frequency. Following a population-wide screen for the only two mutations present in the Hutterites (M1101K, ΔF508), we tested for associations between carrier status and measures of fertility. There was no evidence of nonrandom transmission of mutations (P = 0.409) or skewed sex ratios (P = 0.847) in children of carrier parents. Moreover, carrier status was not associated with overall fertility (P = 0.597 for carrier fathers and 0.694 for carrier mothers). Although carrier males’ sibship sizes were larger than carrier females’ sibship sizes (P = 0.049), this was not significant after accounting for multiple testing. Overall, our results suggest that if there is a fertility advantage among CF carriers, it is too small to be detected in our sample (85 carriers out of ∼950 screened), or the effects are confined to ΔF508 carriers, for which there are too few in our sample to test this specific hypothesis.     

The study of the multifactorial anthropogenic effect on the ecosystems of the industrial reservoirs of "Maiak" industrial complex

The analysis of the ecological situation of the Southern Urals industrial water reservoirs of the nuclear fuel cycle enterprise, "Mayak" PA is represented. The study was held in the 80s - early 90s. The subjects of the study were: a cooling water reservoir--Kysyl-Tash Lake (R-2) as well as a radioactive waste storage reservoir (R-10). Irtyash Lake, which is a drinking water reservoir for the city of Ozyorsk and Alabuga and Kazhakul Lakes, located on the boundary of the Eastern Urals Radioactive Trace (EURT), were taken as control ones. Such water reservoirs as Irtyash, Kysyl-Tash and the waste storage reservoir (R-10) are incorporated into the Techa River basin; while Alabuga and Kazhakul Lakes are related to the interfluve between the Techa River and the Sinara River. The complex effect from such man--caused factors as radiation, chemical and thermal to water reservoirs' ecosystems was studied. Radionuclide specific activities of the major reservoir components (water, bottom sediments, and biological objects), cumulative stock and radiation doses to the biota were determined. Assessment of the condition of biological structures of individual reservoirs was performed. It was found that the long-term complex influence of radiation, thermal and chemical factors resulted in the formation of the unique technology-induced ecosystems being a part of "Mayak" PA process cycle. Radiation doses to the fish of the cooling water reservoir and the radioactive waste storage reservoir were experimentally estimated. These doses from the incorporated beta-emitters were not less then 2-3 Gy/year. The long-term complex influence of radiation and chemical factors didn't cause any irreversible changes either in the fish population or in the ecosystem. Water purity indicators like crayfish (Astacus leptodactilus Esch) and mollusk (Anodonta cygnea L.) were found in the cooling water reservoir. The comparative analysis of the ecological situation of the reservoirs carried out on the basis of several qualitative indicators and with the help of the formalized scoring system allowed determining that the optimum ecological conditions can be observed in Irtyash Lake. The quality of the environment of Alabuga Lake is slightly lower. The ecological conditions in Kysyl-Tash Lake are up to the standard, while in Kazhakul Lake they are lower than the standard. This is the result of the natural salinization of the ecosystem. The lowest indicator was obtained for the radioactive waste storage reservoir.     

Genetic-epidemiologic study of haemophilia A and B in Hungary

All known surviving haemophiliacs A and B and their relatives were reexamined by laboratory and clinical methods and evaluated by a genetic-epidemiologic approach in 4 north-western countries of Hungary. The prevalence of haemophilia A and B patients born in the fifties was 2.73 and 0.25 per 10,000 persons, respectively. The reproductive fitness was found to be 0.3 in haemophilia A, and 0.8 in haemophilia B patients. The mutation rates calculated by the indirect method were 6.3 x 10(-5) for haemophilia A and 0.2 x 10(-5) for haemophilia B.     

Phytoplankton in reservoir R-11 of Techa reservoir cascade of Industrial Association "Maiak"

Phytoplankton of reservoir R-11 was investigated at vegetative seasons of 2007 and 2008. R-11 is a locking reservoir in the cascade of Mayak PA reservoirs. The specific activity in water of R-11 ranged from 0.9 to 1.8 kBq/dm for 90Sr and from 0.98 to 3.97 kBq/dm3 for 137Cs; in bottom sediments it ranged from 20 to 400 kBq/kg for 90Sr and from 0.35 to 220 kBq/kg for 137Cs. Concentration of SO4- exceeded the maximum permissible concentration for fishing reservoirs in 5-7 times. The content of 90Sr in the phytoplankton has made 400 kBq/kg (for dry weight), and 137Cs--2.20 kBq/kg (for dry weight). The absorbed dose of irradiation for the phytoplankton calculated under the content of 137Cs and 90Sr in water and in phytoplankton (the external irradiation from activity of bottom sediments was not considered) has made 901 mGy per year. Altogether the phytoplankton of reservoir R-11 included 107 species. Such species of Cyanobacteriae as Oscillatoria agardhii Gom. was the dominant in phytoplanktonic community. Another Cyanobacteriae, Lyngbya limnetica Lemm. and Aphanizomenonflos-aquae (L.) Ralfs. acted the most important part in a complex of species-subdominants. According to quantitative development of the phytoplankton the reservoir R-11 can be classified as P-mezosaprobe waters.     

Predisposition to multifactorial pathology in residents of the city in the zone around the "Maiak" atomic industry enterprise

According to present achievements in radiation and molecular genetics it is possible to expect that due to chronic radiation exposure the relative increasing of genetic risk in following generations will be observed. It will be due, in the first place, to increasing a percent of multifactorial diseases (MFD). Most of geneticists refer bronchial asthma (BA) to multifactorial diseases. Genetics and epidemiological analysis of liability to BA in population of Ozyorsk situated in the control area of "Mayak" Production Association (PA "Mayak") was accomplished. Population risk, as probability for an individual in population to develop BA up to the end of life is 2.69%. It's higher than in Moscow (2.03%) (p < 0.05). The excess is due to significantly higher values in females (2.96% against 1.93%). Population risk to fall ill of BA in females of Ozyorsk (2.96%) is significantly higher than in males (2.4%). Prevalence of BA in Ozyorsk (0.60%) is significantly higher than in Moscow (0.47%) due to higher values in females (0.65% against 0.47%). The total risk to fall ill of BA amongst relatives is 5.4% that is twice higher than the population risk. The heritability of BA is 0.71 (in Moscow-0.70).     

Genetic-epidemiologic study of adenoma and cancer of the large intestine]

A clinical/genealogical study of colorectal adenomas (CRA) and cancer (CRC), and multiple primary malignant tumors (MPMT) was performed. The CRA prevalence in the population was 4.7 +/- 1.4% (single CRA--6.3% and multiple CRA--3.0%). The frequencies of malignant adenomas, 0.7% CRC, and MPMT were 0.7, 0.17 +/- 0.07%, and 0.004 +/- 0.003%, respectively. The prevalence of cancer of the female reproductive organs was also estimated (cancer of uterine body, 0.2 +/- 0.1%; cancer of ovaries, 0.08 +/- 0.1%; cancer of uterine cervix, 0.55 +/- 0.1%; cancer of mammary gland 0.57 +/- 0.1%). The main parameters of the familial inheritance of adenomas, CRC, and MPMT were also studied in general and at various clinical variants of these pathologies. Among the first-degree relatives of patients with solitary and multiple adenomas, the adenoma frequencies were 5.9 +/- 0.6 and 3.7 +/- 0.5%, respectively. The CRC frequency among the first-degree relatives of patients with adenoma was 3.0 +/- 0.6% and the frequency of MPMT was 5.8 +/- 0.6%. On the basis of the data obtained on frequencies of malignant tumors in various groups of relatives, the following conclusions were made: (1) in families of each proband group, specific pathology was accumulated; (2) the familial frequency of malignant tumors increased with an increase in proliferative processes and the severity of a pathology in probands.     

"Hidden" reproductive conflict between mates in a wild bird population

Environmental conditions experienced by a female prior to reproducing may be influenced by her mate. Part of such an indirect effect of a male on his partner's reproduction may be genetic (indirect genetic effect). However, a female's direct and a male's indirect genetic effects need not align. We analyzed 10,652 records of seasonal timing of laying, an important reproductive trait in many organisms, of 1864 male and 1916 female common gulls Larus canus collected during 37 years. We show that there is both a direct (female) and an indirect (male) genetic effect (explaining 14.5% and 4.8% of the REML estimated variance in laying date, respectively), but these are significantly negatively correlated (-0.53+/-0.22 SE), indicating that genes for early laying in females are associated with genes for a delaying male effect on his partner's laying date (and vice versa). There is strong selection for laying early in this population, and these sexually antagonistic genetic effects may contribute in maintaining the variation in laying date. Our findings provide an empirical demonstration of a hitherto largely unstudied level of conflict between mates, with important ramifications for our understanding of evolutionary dynamics and mate choice in nature.     

Preliminary screening study of reproductive outcomes after exposure to yarrow in the pregnant rat

BACKGROUND: Yarrow (Achillea millefolium) is used for the treatment of diarrhea, as a urinary antiseptic, hypotensive, and diuretic. Yarrow also has traditionally been used as an abortifacient, emmenagogue, contraceptive, and for stimulating uterine contractions. For this reason, it is contra‐indicated for use in pregnancy. There has, however, been little scientific research carried out to either confirm or refute this recommendation. METHODS: Female rats were dosed, orally by gavage using 56 times the human dose of yarrow daily on either gestation days (GD) 1–8 or GD 8–15. Two groups of controls were included; the first received water and the second received an equivalent dose of ethanol to that found in the yarrow preparation over the two gestation periods. On GD 20, rats were sacrificed, placentae were weighed, and corpora lutea counted. The fetuses were weighed and examined for signs of external, internal or skeletal malformations. RESULTS: The dose used was not materno‐toxic. There was no increase in pre‐ or post‐implantation losses suggesting that yarrow was neither an abortifacient nor a contraceptive. Placental weights were increased in rats treated with yarrow on GD 8–15 compared to water and ethanol controls and on GD 1–8 compared to water control fetuses. Body weight was reduced in fetuses exposed to yarrow on GD 8–15 compared to water control fetuses. There was no difference in incidence of external or internal malformations. CONCLUSIONS: In the present study it was found that yarrow, when administered to rats at 56 times the human dose, was associated with reduced fetal weight and increased placental weight. In the absence of a no observable effect level for these variables it must be concluded that the consumption of yarrow is contraindicated during pregnancy until further investigations have been carried out. Birth Defects Res B 68:416–420, 2003. © 2003 Wiley‐Liss, Inc.     

Island population,land area,and climate: A case study of the Marshall Islands

A major difficulty in the study of the relationship between human population size and the environment has been placing the problem in a testable framework. Using data from the Marshall Islands, this article tests the proposition that population size and density are highly correlated with environmental variables, including rainfall and land area, through a complex series of socially mediated regulatory mechanisms. This analysis thus supports the population-resources disequilibrium theory of culture change.Deceased.     

Assessing reproductive patterns and disorders in free-ranging dogs in Jodhpur, India to optimize a population control program

The objectives were to test the hypothesis that estrus and pregnancy are seasonal in free-ranging female dogs (>3 mo old) in Jodhpur, India, and to determine litter size, and the prevalence of fetal resorption in this population. The prevalence of estrus and pregnancy was determined in 5400 free-ranging bitches (trapped and released) at the time of ovariohysterectomy. In a separate study, the uteri and ovaries of 246 free-ranging bitches were examined to determine litter size and fetal resorption. The bitches exhibited seasonal estrus and pregnancy (P < 0.00001), with a higher percentage of bitches in estrus or pregnant during the late monsoon season (September to November) compared to the other three seasons. The mean litter size based on embryo/fetal counts was 4.6 (95% CI = 4.0-5.3; n = 40) and based upon placental site counts was 4.4 (95% CI = 3.9-4.8; n = 105). Prevalence of fetal resorption was 32.6% (95% CI = 20.5-47.5; n = 43) with a mean of 2.8 resorptions per litter in those with at least one resorption (95% CI = 1.8-3.8; n = 14). This was the first study to estimate previous litter size of non-pregnant, free-ranging dogs based upon placental sites. Litter size data from this study will be used in a population demographic model to predict the long-term impact of animal birth control (ABC) on the free-ranging dog population in Jodhpur. Increasing the efforts to surgically sterilize bitches prior to the time of year of peak pregnancy or whelping will help maximize the impact of an ABC program on the Jodhpur free-ranging dog population.     

Analysis of articulation of fricative praealveolar sibilant "S" in control population

Defective pronunciation of one or more mother language phones, i.e. dyslalia, represents the most frequent speech impairment both in children and adult people. Cases of persisting speech disorder need professional approach and help. The aim of the study was to obtain a model of physiological articulation of the sibilant "s" in children. The method of FFT spectral analysis was made use of. Results will serve for further use in evaluation of speech impairment.     

The identification of potential radiation risk groups in case of chronical occupational exposure: individual cancer risks among the industrial firm "Maiak" personnel

The draft new recommendations of the ICRP emphasize the need for transition from the collective dose to the dose matrix concept with optimization of the radiation protection system. In fact, this means assessment of the attributive (radiation-induced) risk at individual level with allowance for the dynamics of dose accumulation during the whole length of professional experience. The work provides assessments for high potential risk group from the "Mayak" personnel based on the dose matrix and using the UNSCEAR technique for assessing the attributive risk. It was found that about 2% of "Mayak" personnel subject to individual dosimetric monitoring in 2005 can be attributed to this group.     

Medical genetic study of the Rostov Oblast population: changes in reproductive parameters with time

Changes in vital statistics and Crow's indices during the past 50 years have been studied on the basis of answers to 2165 questionnaires divided into five groups according to the age of women surveyed.     

Comparative study of the changes in microanatomical organization of lymph nodes located and functioning in the area of venous congestion

By the morphometric method the microanatomical organization of the popliteal and kidney lymph nodes of the type Vi was studied in venous congestion. In the first experimental series (lymph nodes localize in venous congestion area) the venous congestion in the popliteal lymph nodes was created by the ligature of caudal vena cava. In the second experimental series (lymph nodes, which clean the venous congestion area--the kidney vena was tied up. The small and short time increase of the marginal sinus volume and hypertrophy of the medullary cords, which seemed about medullary substance B-zone stimulation were characteristically for the lymph nodes, localize in the venous congestion area. The sharp increase of the marginal sinus volume during the long experimental time and paracortical T-zone hyperplasia were characteristically for the lymph nodes, which clean the venous congestion area.     

Stock estimation, environmental monitoring and equilibrium control of a fish population with reserve area

For sustainable exploitation of renewable resources, the separation of a reserve area is a natural idea. In particular, in fishery management of such systems, dynamic modelling, monitoring and control has gained major attention in recent years. In this paper, based on the known dynamic model of a fish population with reserve area, the methodology of mathematical systems theory and optimal control is applied. In most cases, the control variable is fishing effort in the unreserved area. Working with illustrative data, first a deterministic stock estimation is proposed using an observer design method. A similar approach is also applied to the estimation of the effect of an unknown environmental change. Then it is shown how the system can be steered to equilibrium in given time, using fishing effort as an open-loop control. Furthermore, a corresponding optimal control problem is also solved, maximizing the harvested biomass while controlling the system into equilibrium. Finally, a closed-loop control model is applied to asymptotically control the system into a desired equilibrium, intervening this time in the reserve area.     

Segments of 18S rRNA, located in the area of the mRNA-binding center of ribosomes from human placenta

The affinity labelling of human placenta 80S ribosomes by 4-(N-2-chloroethyl-N-methylamino)benzyl-5'-phosphoramide of hexauridylate has been studied. This mRNA analogue has normal coding properties because its binding to placenta ribosomes significantly increases in the presence of the cognate tRNA(Phe). Incubation of the mRNA analogue in the complex with ribosomes and Phe-tRNAPhe) leads to its covalent attachment exclusively to the small subunit (mainly to 18S rRNA). The reaction site has been shown by hybridisation experiments to be located within positions 975-1055 of 18S rRNA. The identified fragment is located in a highly conserved part of the small subunit rRNA domain II.     

Association of mild anemia with cognitive, functional, mood and quality of life outcomes in the elderly: the "Health and Anemia" study

Background

In the elderly persons, hemoglobin concentrations slightly below the lower limit of normal are common, but scant evidence is available on their relationship with significant health indicators. The objective of the present study was to cross-sectionally investigate the association of mild grade anemia with cognitive, functional, mood, and quality of life (QoL) variables in community-dwelling elderly persons.

Methods

Among the 4,068 eligible individuals aged 65–84 years, all persons with mild anemia (n = 170) and a randomly selected sample of non-anemic controls (n = 547) were included in the study. Anemia was defined according to World Health Organization (WHO) criteria and mild grade anemia was defined as a hemoglobin concentration between 10.0 and 11.9 g/dL in women and between 10.0 and 12.9 g/dL in men. Cognition and functional status were assessed using measures of selective attention, episodic memory, cognitive flexibility and instrumental and basic activities of daily living. Mood and QoL were evaluated by means of the Geriatric Depression Scale-10, the Short-Form health survey (SF-12), and the Functional Assessment of Cancer Therapy-Anemia.

Results

In univariate analyses, mild anemic elderly persons had significantly worse results on almost all cognitive, functional, mood, and QoL measures. In multivariable logistic regressions, after adjustment for a large number of demographic and clinical confounders, mild anemia remained significantly associated with measures of selective attention and disease-specific QoL (all fully adjusted p<.046). When the lower limit of normal hemoglobin concentration according to WHO criteria was raised to define anemia (+0.2 g/dL), differences between mild anemic and non anemic elderly persons tended to increase on almost every variable.

Conclusions

Cross-sectionally, mild grade anemia was independently associated with worse selective attention performance and disease-specific QoL ratings.     

Effective population size,reproductive success and sperm precedence in the butterfly,Bicyclus anynana,in captivity

A pedigree approach is used to estimate the effective population size yn two population cages of the butterfly, Bicyclus anynana. Each cage was founded with 54 individually marked adults of each sex. Matings were recorded over a 3‐day period. Eggs were then collected from each female over a similar period before the numbers of hatching larvae were counted to assess progeny number. The males showed a higher variance in reproductive success than the females. Since about one‐quarter of all females mated more than once, we also examined the pattern of sperm precedence using molecular markers or, in separate crossing experiments, wing pattern mutants. Both instances of complete first and last male sperm precedence, as well as of sperm mixing, were found. In some crosses a ‘leakiness’ was found in which some of the early eggs laid by a female were fertilized by a male partner which was subsequently completely unsuccessful. However, the estimates of effective population size were largely unaffected by the pattern of sperm precedence. Estimates for N_e : N in each cage were close to 0.60. The possibility of obtaining comparable estimates in selected natural populations of butterflies is discussed.