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PubMed2026

Comparative genomics reveals lineage-associated structural variation and diversification in a barley fungal pathogen.

Leaf rust, caused by Puccinia hordei, is a major barley disease worldwide. Despite repeated shifts in virulence, contrasting reproductive histories, and emerging fungicide insensitivity, the genomic basis of its diversification and adaptation remains poorly understood. In this study, we generated haplotype-resolved, chromosome-level genome assemblies for two isolates with contrasting virulence and analyzed 41 Australian isolates collected over 54 yr (1966-2020), integrating comparative and population genomics, mating-type gene phylogenies, chromosome-specific k-mer profiling, genome-wide copy-number variation (CNV) analysis, and gene-expression analysis. We identified a structurally dynamic chromosome characterized by repeat-associated rearrangements, structural variation, and lineage-associated CNV, representing the first evidence in a rust fungus of chromosome-scale structural diversification of this extent. Population analyses distinguished clonally expanded lineages from recombination-associated lineages, with mating-type gene phylogenies providing further support for lineage differentiation. More recently collected isolates showed increased duplication-associated variation, and CNV boundaries were associated with structural-variant breakpoints. We also identified lineage-associated amplification of Cyp51, with increased copy number associated with higher transcript abundance, supporting a potential role in fungicide adaptation. Overall, our findings highlight structural variation, contrasting reproductive histories, and lineage-associated CNV as important contributors to diversification in P. hordei, providing insights for future rust pathogen surveillance and management strategies.

Cyp51 gene↗
PubMed1996

Life histories of single parents and illegitimate infants in nineteenth-century Sweden.

"This essay presents tentative findings for the Sundsvall area of Sweden, which is being studied in a recent project on the decline of infant and childhood mortality in the Nordic countries. The focus is on the complete reproductive histories of single mothers and the life expectancies among infants born to women who at least once in their reproductive life history experienced the birth of an illegitimate child. In Sundsvall, industrialization only temporarily affected the illegitimacy ratio, but its effect was obvious even in agrarian parishes. The number of illegitimate children per woman remained relatively stable over time, with the exception of the town of Sundsvall. It was more common in the urban environment to give birth to several illegitimate children. Mortality was also higher among these infants, but the negative effects can be seen equally among both legitimate and illegitimate children."

Birth Rate↗
PubMed2004

Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis.

Sickle-cell and beta-thalassemia syndromes are priority genetic diseases for prevention programs involving population screening with the option of prenatal diagnosis for carrier couples. Preimplantation genetic diagnosis (PGD) represents a specialized alternative to prenatal diagnosis and is most appropriately used for couples with an unsuccessful reproductive history and/or undergoing assisted reproduction. However, clinical application of PGD has been hindered by difficulties in reliably transferring molecular diagnostic protocols to the single-cell level. We standardized and validated a protocol involving first-round multiplex PCR, amplifying the region of the beta-globin gene containing most of the common disease mutations world-wide and two unlinked microsatellite markers (GABRB3 and D13S314), followed by: 1) analysis of beta-globin genotypes with real-time PCR and 2) microsatellite sizing to exclude chance contamination. The protocol was standardized on 100 single lymphocytes from a beta-thalassemia heterozygote, including 15 artificially contaminated samples, the latter demonstrated through microsatellite analysis. PCR failure and allele drop-out (ADO) were observed in one (uncontaminated) sample each (1.2%). A pilot study in six clinical PGD cycles with five different beta-globin genotype interactions achieved results (in 5-6 hr) in 46 out of 50 single blastomeres (92%), all concordant with results from an established PGD method applied simultaneously; microsatellite analysis detected only parental alleles, excluding contamination. Beta-globin genotypes were also confirmed in two blastomeres through prenatal diagnosis (twin pregnancy), and in 11 out of 12 spare embryos, revealing one incident of ADO. Overall, the protocol proved to be sensitive, accurate, reliable, rapid, and applicable for many genotype interactions, with internal monitoring of contamination, thus fulfilling all requirements for clinical PGD application.

Anemia, Sickle Cell↗
PubMed1992

Body measurements, estrogen availability and the risk of human breast cancer: a case-control study.

Recent studies on lifestyle-related mechanisms involved in cardiovascular risk offer important clues for a better understanding of breast-cancer epidemiology. Central body-fat distribution promoted by an affluent dietary intake and a sedentary lifestyle over many years is related to elevated serum triglycerides and free fatty acids, with lower levels of sex-hormone-binding globulin (SHBG). The resulting greater availability of estradiol not bound to SHBG could help to explain the high breast-cancer incidence in Western industrialized countries. We conducted a case-control study comparing 225 women aged 38 to 75 years with operable (stage I or II) breast cancer and 441 women of the same age having no breast cancer who participated in a population-based breast-cancer screening program. Body fatness, as measured by body mass index (BMI), fat distribution as measured by waist-to-hip girth ratio (WHR), body height, serum lipids, SHBG and the available fraction of estradiol were analyzed in a conditional logistic regression, together with family history for breast cancer, reproductive history and smoking. Post-menopausal cases showed no difference in body fatness (BMI), but a significant preponderance of central adiposity (WHR). In contrast, pre-menopausal cases were significantly leaner, but had a similar body-fat distribution as compared with controls. In all women, WHR, and less strongly BMI, was positively correlated with serum levels of triglycerides and available estradiol fractions. An independent, positive linear correlation between body height and relative risk (RR) was observed. Moreover, a significant correlation between SHBG and menarcheal age was seen in cases, but not in controls. These data support our hypothesis that lifestyle relates to breast-cancer risk by metabolic-endocrine mechanisms which modulate the availability of individual sex-steroid concentrations in plasma. The findings of height as a risk factor and adult SHBG levels being correlated with menarcheal age suggest that lifestyle factors promoting breast-cancer development already act around puberty. The leanness of pre-menopausal cases awaits further explanation.

Adult↗
PubMed1998

Risk Factors for Breast Cancer among Japanese Women: A Case-Control Study in Ibaraki, Japan.

BACKGROUND: The number of epidemiologic studies on breast cancer risk factorsin Japanese women is still quite limited. Our objective was to clarify the relationship between lifestyle, body size and breast cancer risk. METHODS: A matched case-control study was conducted in Ibaraki, Japan. The participants were 148 women aged 26-69 diagnosed with breast cancer at Tsukuba University Hospital or Tsukuba Medical Center Hospital between January, 1990 and March, 1997. Two controls were individually matched to the cases by age and residence. A self-administered questionnaire was used to obtain information on the family history of breast cancer, reproductive history, education, body size and lifestyle factors. Conditional logistic regression analysis was used to estimate oddsratios (ORs)and 95% confidence intervals (95% CI). RESULTS: After adjustment for potential confounders, heavy weight and higher body mass index were associated with an increased risk of breast cancer among postmenopausal women (OR = 1.76, 95% CI = 0.69, 4.48; OR = 1.57, 95% CI=0.61, 3.99, respectively). Current or ex-smokers were found to be at an increased risk for breast cancer (OR = 3.33; 95% CI = 1.63, 6.80). Women who take hot baths had a decreased risk for breast cancer (OR = 0.67; 95% CI = 0.43, 1.06). Recreational physical activity was associated with a reduced risk of breast cancer (PTrend = 0.005).OR for breast cancer among physically active women was 0.36 (95% CI = 0.19, 0.70), as compared with inactive women. Taller women had an increased risk of breast cancer relative to shorter women (OR = 1.49; 95% CI = 0.83, 2.70). No significant association between alcohol consumption and breast cancer risk was detected. CONCLUSION: Our results suggest that several potentially modifiable lifestyle factors may be useful for the prevention of breast cancer.

Journal Article↗
PubMed2005

Occupational class, occupational mobility and cancer incidence among middle-aged men and women: a prospective study of the French GAZEL cohort*.

OBJECTIVE: To examine the association between occupational class, occupational mobility and cancer incidence in the 1990s. METHODS: Prospective study of 14,853 men and 5493 women employed by a large French company. Incident cases (any cancer, smoking and alcohol-related, breast) were ascertained through a validated company-based cancer registry (1990-2002). Hazard ratios (HRs) by occupational class and by career-long occupational mobility were calculated adjusting for age, marital status, tobacco and alcohol consumption, weight, diet, asbestos exposure, family history of cancer, and reproductive history. RESULTS: 359 male cancers (107 smoking and alcohol-related) and 208 female cases (120 breast cancers) were observed. Male clerks and manual workers were at high risk, particularly of smoking and alcohol-related cancers (compared to managers, age-adjusted HRs: 2.95 95% CI 1.37-6.38 and 2.18 95% CI 1.15-4.11). Adjusting for specific health behaviors and other cancer risk factors reduced this gradient (fully-adjusted HRs respectively 1.95 95% CI 0.89-4.27 and 1.54 95% CI 0.80-2.97). The risk was also associated with occupational mobility. We found no association between women's occupational class and cancer. CONCLUSION: The incidence of smoking and alcohol-related cancers among French men shows a strong socioeconomic gradient. Policies addressing these social disparities are needed.

Adult↗
PubMed1986

A study of a herpesvirus isolated from dairy cattle with a history of reproductive disorders.

Three strains of herpesvirus were recovered from cows with vulvovaginitis. The three isolates (85/BH 16TV, 85/BH 17TV, 85/BH 18TV), when compared by cross serum neutralization (SN) tests, were found to be antigenically identical. They were serologically distinct from infectious bovine rhinotracheitis (IBR) virus and Bovid herpesvirus 2 (BHV2), while they cross reacted with bovine herpesvirus DN-599. Besides the serologic aspects, the three isolates appeared to share common biological, physical and morphological properties with the newly recognized bovine herpesviruses, of which DN-599 is a representative strain.

Animals↗
PubMed1999

Prenatal and postnatal histories of very low birthweight infants who developed hepatoblastoma.

BACKGROUND: Hepatoblastoma in children of very low birthweight (< 1500 g) is increasing in Japan and this has suggested the presence of either a genetic or environmental etiology. This study was aimed at revealing common prenatal and postnatal histories, including family history of hepatoblastomas in children of very low birthweight. METHODS AND RESULTS: The medical records of 15 patients, nine boys and six girls, were reviewed. The patients were diagnosed at the age of 6-77 months (median 16 months). Their birthweight ranged from 560 to 1380 g (median 826 g) and the gestational age was 23-33 weeks (median 25 weeks). No parents were exposed to any occupational risk factors and there were no characteristic features in the parents' history or the maternal reproductive history, although one patient was born to a mother who had taken a contraceptive before she got pregnant with the patient as a result of in vitro fertilization. A ventricular septal defect and an atresia of the external auditory canal were congenital anomalies seen in the patients, but congenital anomalies associated with hepatoblastoma were not seen. Early postnatal illnesses included respiratory distress syndrome in six patients, symptomatic patent ductus arteriosus in three patients, chronic lung disease in seven patients, cytomegalovirus hepatitis in one patient and cholelithiasis in one patient. Oxygen therapy was given to 13 patients for a period of 4-508 days (median 112 days) and lengths of oxygen therapy and assisted ventilation were significantly longer in patients with a stage IIIB or IV tumor than those with a stage II or IIIA tumor (P = 0.0040 and 0.0190, respectively). Furosemide was used in 13 patients for a period of 6-460 days (median 88 days) and the length of the treatment was also significantly longer in patients with advanced tumors (P = 0.0420). Among the patients at 23-25 weeks of gestation, these treatments tended to be longer in patients with a stage IIIB or IV tumor than those with a stage II or IIIA tumor. CONCLUSIONS: These results suggest the presence of an environmental etiology, rather than a genetic one, which is responsible for the development of hepatoblastoma in children of very low birthweight. Close monitoring of the children after being discharged from the neonatal intensive care unit is essential and a case-control study is necessary to identify risk factors for hepatoblastoma in children of very low birthweight.

Child↗
PubMed2001

Uncertain breeding: a short history of reproduction in monotremes.

Although much is known about the biology of monotremes, many important aspects of their reproduction remain unclear. Studies over the last century have provided valuable information on various aspects of monotreme reproduction including the structure and function of their reproductive system, breeding behaviour, sex determination and seasonality. All three living genera of monotremes have been successfully maintained in captivity, often for long periods, yet breeding has been rare and unpredictable. When breeding has occurred, however, significant gains in knowledge have ensued; for example a more accurate estimate of the gestation period of the platypus and the incubation period for the Tachyglossus egg. One of the great challenges for zoos has been to understand why breeding of monotremes is difficult to achieve. Analysis of breeding successes of platypuses and short-beaked echidnas provides some insights. The evidence suggests that although annual breeding seasons are regionally predictable, individual adult females breed unpredictably, with some showing breeding intervals of many years. The reason for this variation in individual breeding intervals may be resource-dependant, influenced by social factors or may even be genetically induced. Better knowledge of factors that influence breeding intervals may improve the success of monotreme captive breeding programmes. More certainty in captive breeding is also an important issue for enterprises wishing to trade in Australian wildlife since current legislation limits export of Australian fauna for display to at least second-generation captive-bred individuals. Given their unique evolutionary position, knowledge of reproduction in monotremes needs to be gained in advance of any future population declines so that appropriate strategies can be developed to ensure their survival.

Animals↗
PubMed1990

Maternal and fetal responses to the stresses of lactation concurrent with pregnancy and of short recuperative intervals.

In many regions of the world, women breastfeed one child while pregnant with the next. Among rural Guatemalan women participating in a nutrition-supplementation trial, lactation overlapped with pregnancy in 253 of 504 (50.2%) of the pregnancies. For cases where overlap occurred, 41.4% continued to breast-feed into the second trimester and 3.2%, in the third trimester. The maternal and fetal responses to the energetic stresses of overlap and of the duration of the recuperative (nonpregnant, nonlactating) interval were assessed. Overlap resulted in increased supplement intake. Short recuperative periods (less than 6 mo) resulted in increased supplement intake and reduced maternal fat stores. The energetic stresses of overlap and short recuperative periods did not significantly affect fetal growth. The mother appears to buffer the energetic stress, protecting fetal growth. This research demonstrates that evidence of depletion of maternal nutrient stores caused by a demanding reproductive history is found when reproductive stress is characterized adequately.

Anthropometry↗
PubMed2006

Fungal plant endosymbionts alter life history and reproductive success of aphid predators.

Endosymbionts occur in most plant species and may affect interactions among herbivores and their predators through the production of toxic alkaloids. Here, we ask whether effects of mycotoxins produced by the symbiosis of the fungal endophyte Neotyphodium lolii and the grass Lolium perenne are transmitted to the aphidophagous ladybird Coccinella septempunctata when feeding on cereal aphids Rhopalosiphum padi on infected plants. The larval development of coccinellids was extended, while their survival was reduced when feeding exclusively on aphids from infected plants. Ladybirds developing on aphids from infected plants showed reduced fecundity and impaired reproductive performance. Body size and symmetries of ladybird adults were not affected by the endophytes. Consistently strong, negative effects of endophytes on the lifetime performance of ladybirds indicates that mycotoxins are transmitted along food chains, causing significant damage for top predators. Such cascading effects will influence the population dynamics of aphid predators in the long term and could feedback to the primary plant producers.

Animals↗
PubMed2000

Computerized analysis of mammographic parenchymal patterns for breast cancer risk assessment: feature selection.

Our purpose in this study was to identify computer-extracted, mammographic parenchymal patterns that are associated with breast cancer risk. We extracted 14 features from the central breast region on digitized mammograms to characterize the mammographic parenchymal patterns of women at different risk levels. Two different approaches were employed to relate these mammographic features to breast cancer risk. In one approach, the features were used to distinguish mammographic patterns seen in low-risk women from those who inherited a mutated form of the BRCA1/BRCA2 gene, which confers a very high risk of developing breast cancer. In another approach, the features were related to risk as determined from existing clinical models (Gail and Claus models), which use well-known epidemiological factors such as a woman's age, her family history of breast cancer, reproductive history, etc. Stepwise linear discriminant analysis was employed to identify features that were useful in differentiating between "low-risk" women and BRCA1/BRCA2-mutation carriers. Stepwise linear regression analysis was employed to identify useful features in predicting the risk, as estimated from the Gail and Claus models. Similar computer-extracted mammographic features were identified in the two approaches. Results show that women at high risk tend to have dense breasts and their mammographic patterns tend to be coarse and low in contrast.

BRCA2 Protein↗
PubMed1999

Male reproduction and environmental and occupational exposures: a review of epidemiologic methods.

Concerns that chemical exposures in the environment have been detrimental to male sexual development and fertility have been heightened by reports of declining sperm counts over the past 50 years. Marked geographic variation has been found in semen quality and in the incidence of testicular cancer and certain urogenital defects. Debate continues over the existence, magnitude and significance of these trends, and how best to evaluate the hypothesis that in utero and childhood exposures to estrogenic compounds may be to blame. Epidemiologic methods for assessing the impact of hazardous substances on male reproductive health have been developed mainly in the area of occupational medicine, and this paper will review the currently recommended methods. These include questionnaires to determine reproductive history and sexual function; reproductive hormone profiles; and semen analyses such as sperm concentration, motility, and morphology. New research tools that show significant promise from the fields of clinical reproductive medicine and reproductive toxicology are discussed as possible additions to epidemiologic studies, including assays of sperm function and genetic integrity, and biomarkers of DNA damage. For population-based studies involving occupational groups or communities with environmental exposures, issues related to the cost, validity, precision and utility of these methods must be carefully considered.

Environmental Exposure↗
PubMed2004

Association between birth weight and serum lipid concentration in premenopausal Japanese women.

BACKGROUND: The relationships between birth weight and serum lipid concentrations in pre-menopausal Japanese women were not well identified and also diet and serum hormone status in these women would be considered. METHODS: A total of 59 premenopausal Japanese women completed a self-administered questionnaire including basic demographic information, disease histories, and menstrual and reproductive histories. They were asked to obtain information on birth weight recorded in mother-and-baby notebook issued by municipality from their mother. Diet was assessed by daily diet records from day 2 through day 10 of the menstrual cycle. Blood sample was collected on day 11 of the cycle to measure serum lipid and hormone concentrations (total and high-density lipoprotein [HDL] cholesterols, triglyceride, estrone, estradiol, and sex hormone-binding globulin). RESULTS: Birth weight was significantly correlated with HDL cholesterol (r = 0.32, p = 0.03), but not with total cholesterol and triglyceride after controlling for age. Neither estrogen nor sex hormone-binding globulin was significantly correlated with serum lipid concentrations after controlling for age and the number of days prior to the next menses. The correlation between birth weight and HDL cholesterol was not affected after additional adjustment for serum estrogen and intakes of protein, calcium, and iron. CONCLUSION: These data suggest that intrauterine growth may be associated with lipid profile.

Adult↗