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Correlates of genetic risk for non-syndromic cleft lip with or without cleft palate.

Multivariate analysis was used to determine which characteristics: sex of the proband, sibling sex, severity of the proband's defect or family history, are the best predictors of recurrence risk among siblings of individuals with non-syndromic cleft lip with or without cleft palate (CL +/- P). Sibling recurrence risks are not significantly related to the sex of the proband. Severity of the proband's defect, classified by the extent of the lip defect (unilateral versus bilateral), was found to be a significant predictor of sibling recurrence, whereas involvement of the palate in the proband's defect was not. A positive family history of clefting (i.e. at least one affected first-degree relative in addition to the proband) and the sex of the sibling were also found to be significant predictors of sibling recurrence. The associations between sibling risk and family history, and sibling risk and bilaterality of the proband's defect appear to be mildly confounded. After adjusting for the effects of family history, the risk to siblings of probands with bilateral lip defects is twice the risk to siblings of probands with unilateral defects (O.R. = 2.00; 95% C.I. 1.25-3.19). A positive family history of clefting increases the risk to siblings by greater than 4-fold (O.R. = 4.49; 95% C.I. 2.74-7.35), after adjusting for the extent of the proband's lip defect. These results provide a rational strategy for identifying subsets of the 'at risk' population which have markedly different recurrence risks. This information is important for genetic counseling, since it allows for more precise estimation of sibling recurrence risks in individual cases.(ABSTRACT TRUNCATED AT 250 WORDS)

Cleft Lip↗

Population responses of the freshwater amphipod Gammarus pulex (L.) to an environmental estrogen, 17alpha-ethinylestradiol.

The effects of the environmental estrogen 17alpha-ethinylestradiol (EE) on mixed populations of 90 individual Gammarus pulex were examined following a 100-d exposure in a flow-through system. Counts of total animal numbers revealed that, in all treatment groups, population size dramatically increased due to recruitment, with neonate and juvenile gammarids the most abundant. At concentrations of 1 and 10 microg/L EE, the recorded mean population sizes of 385 and 411, respectively, were significantly greater (p = 0.018) than the control (169). Mean population sizes in the solvent control (257) and 100 ng/L EE treatment (267) were not significantly different (p > 0.05) from the control. In addition to total counts, detailed image analysis of each individual animal allowed the assessment of length-frequency distributions, adult sex ratio, number of precopula pairs/ovigerous females, and measurement of secondary antenna and gnathopod length (secondary sex characteristics). The sex ratio of adults at 100 ng, 1 microg, and 10 microg/L EE was greater than 2:1 (female:male), and significantly more females (p = 0.008) were recorded at these concentrations compared with the control. The number of male adults, precopula guarding pairs, and ovigerous females did not differ between treatments (p > 0.05). Secondary antennal and gnathopod length in males was consistently greater than in females (p < or = 0.001), but comparison between groups revealed no difference in these parameters.

Animals↗

Fish full life-cycle testing for androgen methyltestosterone on medaka (Oryzias latipes).

Abstract-We studied the chronic effects of methyltestosterone (MT) on reproductive status of medaka (Oryzias latipes) over two generations under continuous exposure to verify the applicability of the fish full life-cycle test (FFLC) for this androgen with this species. The exposure of parental (F0) medaka to MT was begun on embryos within 12 h postfertilization and continued for up to 101 d; assessment endpoints included embryological development, hatching, posthatch survival, growth, sexual differentiation, reproduction, and hepatic vitellogenin (VTG) levels under flow-through exposure to MT at each mean measured concentration of 0.35, 1.09, 3.29, 9.98, and 27.75 ng/L. Eggs (F1) spawned from the F0 fish at 98, 99, and 100 d posthatch were examined for hatchability, survival after hatching, growth, sexual differentiation, and hepatic VTG level until 60 d posthatch. In the FFLC with medaka, MT induced masculinization of both secondary sex characteristics and gonads. We observed that all F0 fish in the 27.75-ng/L treatment group showed male secondary sex characteristics in which no fish with ovary could be discerned. Several fish with ovaries in F0 and F1 generations treated with 9.98 ng/L showed male secondary sex characteristics. We also observed swollen abdomens in the F0 and F1 female fish in the 9.98-ng/L treatment group. These swollen abdomens were induced by enlarged ovaries and were accompanied with declined fecundity and fertility in the F0 generation. These results indicate that MT reduces the reproductive potential of medaka and that the FFLC with this species is applicable to the evaluation of androgens.

Animals↗

Gonad development characteristics and sex ratio in triploid Chinese shrimp ( Fenneropenaeus chinensis).

This paper details for the first time the gonad development characteristics and sex ratio of triploid shrimp ( Fenneropenaeus chinensis). In triploid shrimp the development of gonad is apparently impaired, especially in females. In the ovary of triploids, germ cells mainly remain at oogonia stage during September through December. From January to February of the next year, partial primary oocytes developed in the ovary lobes. Spermatocytes and spermatids could be observed in the testes of triploids, and a few sperm were observed in the vas deferens and spermatophores. The morphology of sperms in triploid shrimp was abnormal. Flow cytometry was used to detect the ploidy of sperm in the vas deferens. The data showed that triploidy could affect the sex ratio in Chinese shrimp. The female-to-male ratio in triploids of about 4:1 will favor triploid shrimp aquaculture.

Animals↗

Differences in binding characteristics of sex steroid binding protein in reproductive and nonreproductive female rainbow trout (Oncorhynchus mykiss), black bream (Acanthopagrus butcheri), and greenback flounder (Rhombosolea tapirina).

The binding characteristics of sex steroid binding protein (SBP) were investigated in vitellogenic and nonreproductive female rainbow trout (Oncorhynchus mykiss), black bream (Acanthopagrus butcheri), and greenback flounder (Rhombosolea tapirina). The binding capacity of rainbow trout and black bream SBP was significantly greater in vitellogenic than in nonreproductive-stage fish. A decrease in binding affinity was observed in male trout injected with estradiol (E(2)) compared to control fish. This difference was not observed after partial purification of the SBP by gel filtration and may have resulted from competitive inhibition of E(2) binding by vitellogenin. No differences in flounder SBP binding characteristics were observed.

Animals↗

Sex-specific characteristics of cardiac function, geometry, and mass in young adult elite athletes.

PURPOSE: To study young adult elite athletes with age- and sex-matched sedentary controls to assess sex-specific differences for left ventricular (LV) and right ventricular (RV) volumes and mass as well as for LV contraction and relaxation. MATERIALS AND METHODS: A total of 23 male athletes (mean age 25 +/- 4 years, training 22 +/- 7 hours/week in rowing, swimming, or triathlon) and 20 female athletes (mean age 24 +/- 4 years, training 19 +/- 5 hours/week in rowing, swimming, or triathlon) and age- and sex-matched sedentary controls (21 male/17 female) underwent cardiovascular magnetic resonance (CMR) imaging (1.5 Tesla). Cardiac phase contrast imaging using a black-blood k-space segmented gradient echo sequence was used for analysis of cardiac contraction and relaxation and steady-state free-precession cine images were acquired for determination of cardiac volumes and mass. RESULTS: Male and female athletes showed similar increases in LV and RV volume and mass indices when compared to controls (ranging between 15% and 42%). No sex-specific differences in training effect on LV and RV volumes, mass indices, and ejection fractions, as well as LV to RV ratios of these volume and mass indices (parameters of balanced LV and RV dilatation and hypertrophy) were observed (all P for interaction >0.05). Similarly, no sex-specific differences in training effect on cardiac contraction and relaxation were found (all P for interaction >0.05). CONCLUSION: Young adult elite athletes do not show sex-specific adaptive structural and functional changes to exercise training in accordance with the benign nature of the hypertrophy associated with athlete's heart.

Adult↗

Effects of the isoflavones genistein and equol on the gonadal development of Japanese medaka Oryzias latipes.

The estrogenic isoflavone compound genistein recently has been found in the effluents of sewage treatment plants and pulp mills, and the related compound equol has been detected in the runoff from agricultural fields treated with hog manure. Waterborne exposures of Japanese medaka (Oryzias latipes) to equol from soon after hatch to approximately 100 days posthatch induced gonadal intersex (i.e., testis-ova) in males at incidences of 10 and 87% in equol treatments of 0.4 and 0.8 micro g/L, respectively. Exposure to the highest test concentration of genistein, 1,000 micro g/L, also caused a low incidence (i.e., 12%) of gonadal intersex in male medaka. The ovaries of female medaka from both equol and genistein treatments showed delayed oocyte maturation, atretic oocytes, an enlarged ovarian lumen, proliferation of somatic stromal tissue, and primordial germ cells; responses were concentration dependent. Alterations to externally visible secondary sex characteristics occurred in medaka exposed to both equol and genistein. In treatments with 1,000 micro g/L genistein, 72% of male medaka (as identified by the gonadal phenotype) showed feminized secondary sex characteristics. Gonadal intersex and alterations to secondary sex characteristics have been noted in several fish populations around the world. This laboratory study indicates that isoflavone compounds should be considered candidate estrogenic compounds that may be involved in the alteration of sexual development in feral fish populations.

Animals↗

[Lymphogranulomatosis: a systems analysis of the age- and sex-related characteristics of hemopoiesis and metabolism].

72 clinical and laboratory features were analyzed on the IBM PC 486 for 126 new cases of lymphogranulomatosis prior to treatment. Myelograms were found to vary with sex and age of the patients demonstrating close relations between hemopoiesis and processes in the lymph nodes. In males maturation of myeloid elements KM was inhibited, though they had more monocytes KM. These monocytes got more numerous in unfavorable histological variants and generalization. Lymphopenia and monocytosis were more pronounced in patients under 30 becoming more severe in generalization and intoxication. Age-related changes in cholesterol in lymphogranulomatosis patients were abnormal: in older patients cholesterol was low. This phenomenon is extremely unfavorable. The findings elucidate prognostic value of sex and age in lymphogranulomatosis and suggest a hypothesis that monocytes (macrophages) and secreted by them monokines are responsible for specific intoxication, neutrophilia and lymphopenia. Berezovsky-Sternberg cells may be hybrids of macrophages and B-lymphocytes.

Adolescent↗

The effect of short term confinement stress on binding characteristics of sex steroid binding protein (SBP) in female black bream (Acanthopagrus butcheri) and rainbow trout (Oncorhynchus mykiss).

The effect of short term confinement stress on sex steroid binding protein (SBP) binding characteristics was examined in female black bream (Acanthopagrus butcheri), and rainbow trout (Oncorhynchus mykiss). Black bream were sampled immediately after capture from the wild and again after 1, 6 or 24 h confinement. Rainbow trout were sampled before and after 5 h confinement. Confinement of black bream for 6 h after capture significantly reduced the binding capacity of SBP. Binding affinity also tended to be lower after confinement. There were no differences in binding affinity or capacity of black bream SBP after 1 or 24 h confinement, or rainbow trout SBP after 5 h confinement. Plasma from rainbow trout at 3 and 6 h after treatment with cortisol was compared to plasma from saline-injected controls. No significant differences in binding characteristics were detected, but there was a trend of decreased binding capacity in cortisol-injected fish compared to controls at 6 h post-injection. Relative binding studies indicated that plasma cortisol at concentrations 100x or more greater than plasma estradiol (E(2)) may displace E(2) from SBP in black bream, and act to reduce circulating levels of E(2) through increased clearance of free steroid. Physiological levels of cortisol did not displace E(2) from SBP in trout. The observed changes in SBP and the competition of physiological concentrations of cortisol for SBP binding sites may generate a component of the stress-induced falls in plasma levels of E(2) reported across a range of species.

Animals↗

Biological activity of some steroidal compounds in the adult and larval frogs.

Four steroids were tested for their biological activity, using the sex-steroid-dependent redevelopment of the secondary sex characteristics in adult frogs and gonadal sex differentiation in larval frogs as end points. In adult frogs, 19-norprogesterone and 6-chloro-17alpha-hydroxy-4, 6-pregnadiene-3,20-dione had antiandrogenic and antiestrogenic effects. 2alpha, 17alpha-Dimethyl-DHT and 2alpha-methyl-DHT were potent androgens and effective antiestrogens. In the larval frogs, all four compounds had a masculinizing effect upon the undifferentiated gonads.

Animals↗

Physical characteristics and sex hormone levels in patients with osteoporotic hip fractures or endometrial cancer.

Comparisons were made of the physical characteristics and the sex hormone levels of 50 postmenopausal women, half of whom had sustained an osteoporotic hip fracture while the remainder had developed endometrial carcinoma. None of the patients had received estrogen replacement therapy for longer than 3 months during their lifetime. At the time of injury hip fracture patients were found to be lighter (121 +/- 5 versus 167 +/- 9 pounds) and older (73.4 +/- 1.0 versus 62.6 +/- 1.7 years) than the cancer patients at the time of diagnosis. Estrone, estradiol, percentage of free estradiol, and free estradiol levels were significantly lower in the hip fracture patients than in subjects with endometrial cancer, while sex hormone-binding globulin levels were significantly higher in the former group. Androstenedione and testosterone levels were similar. Previous studies have shown that the incidence of both lesions is influenced by body size. These data suggest that body size may exert this influence through alteration of endogenous estrogen metabolism with hip fracture patients having lower concentrations and endometrial cancer patients having higher concentrations of endogenous estrogens.

Aged↗

[Secretory type and the X-sex chromatin characteristics of persons with peptic ulcer].

Blood groups according to ABO and Rh systems were tested in 137 ulcer patients as well as the secretory state. The titre of blood group ABH antigens was determined in the same patients, secreted in saliva and gastric juice. The results are compared with those obtained from the examination of a control group of 30 clinically healthy subjects. X-sex chromatin in the cells of biopsy mucosa was examined in 40 ulcer patients, taken from the ulcer area after gastroscopy. As a control, X-sex chromatin was studied in smears from exfoliated oral mucosa in the same subjects. The data confirm the presence of genetic predisposition to ulcer disease development in subjects from blood group O (alpha, beta) and non-secretory type. Low titres of blood group antigens were found in the secretory patients. Differences in X-sex chromating characteristics were observed between bucal mucosa and the mucosa from the ulcer area.

ABO Blood-Group System↗

[Age- and sex-related characteristics of the heart and brain in hypertension patients].

Autopsy findings indicate that elderly patients suffering of hypertensive disease showed a smaller increase of the total mass of the myocardium as compared with the young. The increase of the myocardium mass was larger in males than in females. Increase of the total brain mass in patients with the above pathology was approximately similar in the two age groups and both sexes.

Aging↗

Sex ratio characteristics in Ixodes rubicundus (Acari:Ixodidae), the Karoo paralysis tick.

The sex ratio is an important parameter which characterizes the state and dynamics of natural populations of animals. Although ixodid ticks are specialized ectoparasites, most species are bisexual and are characterized by a 1:1 sex ratio for their progeny. In natural populations and even in laboratory colonies, biased sex ratios are often observed. Ixodes rubicundus, the Karoo paralysis tick, parasitizes domestic stock and wild ungulates in South Africa. Adults quest from vegetation, can mate off or on the host and males are seldom parasitic. We hypothesized that the sex ratio for I. rubicundus would be 1:1 when observed directly in the progeny but that it would be strongly biased towards females in samples of parasitic adults. The results mostly supported the hypothesis but it was also shown that unexplained and unpredictable variations can occur. On hosts, females dominated strongly, except on adult angora goats where the sex ratio was biased in favour of the males. This disparity may be related to a greater retention of males in the coarse, curly hair of angora goats compared to the other hosts. Monthly variations in the sex ratios of the tick on hosts are believed to be related to the large fluctuations in sex ratios of questing ticks.

Animals↗