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To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.forsciint.2007.01.032 Byline: Natsuko Mizuno (a), Hiroaki Nakahara (a), Kazumasa Sekiguchi (a), Kanako Yoshida (a), Minoru Nakano (b), Kentaro Kasai (a) Keywords: DNA; STR; Japanese; Y chromosome; Population Abstract: A total of 1079 Japanese males were typed for the following 16 Y chromosomal short tandem repeat (Y-STR) markers: DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385, DYS393, DYS391, DYS439, DYS635, DYS392, Y GATA H4, DYS437, DYS438 and DYS448 using an AmpFlSTR[R] Yfileracents PCR Amplification kit (Applied Biosystems). A total of 950 haplotypes for the 16 Y-STR markers were detected and, of these, 886 haplotypes were unique. The most frequent haplotype was found in 22 Japanese males. The haplotype diversity was 0.9992, indicating a high potential for differentiating between male individuals. There were 10 haplotypes with no allele detected at the DYS448 marker. Thus, the presence of such atypical haplotypes should be noted, when DNA typing results obtained from degraded DNA samples and/or DNA mixture samples from more than one male individual are being interpreted. Author Affiliation: (a) Fourth Biology Section, Department of First Forensic Science, National Research Institute of Police Science, 6-3-1, Kashiwanoha, Kashiwa, Chiba 277-0882, Japan (b) Department of Chemistry, Faculty of Science, Chiba University, Chiba, Japan Article History: Received 10 July 2006; Revised 4 January 2007; Accepted 5 January 2007

During development of the vertebrate visual system, retinal ganglion cell (RGC) axons follow a precise path toward their midbrain targets. Although much is known about the cues that direct RGC axons once they have left the optic disc, less is known about the guidance of axons at earlier stages, when RGCs first send out their axons to navigate within the developing retina. Using collagen gel coculture experiments, we find that the embryonic lens produces a powerful diffusible repulsive activity for RGC axons. We also find that this activity is localized to the lens epithelium and not the lens fiber layer, while the pigmented epithelium and vitreous humour are devoid of activity. The further observation that the lens also chemorepels primary sensory axons, but does not repel olfactory bulb axons, shows that this activity is specific for subsets of axons. Our experiments have excluded two candidate repellents for RGC axons (collapsin-1/sema III and chondroitin sulfate proteoglycans). These results implicate the lens in the earliest stages of RGC axon guidance. One function of the lens repellent may be to prevent aberrant targeting toward the lens, and it may also be involved in the directional guidance of RGC axons toward the optic disc.

Obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) is a rare urogenital malformation. The clinical symptoms of OHVIRA include uterine morphology abnormality, persistent vaginal discharge, and renal anomaly or agenesis. Delayed diagnosis can lead to complications, such as pelvic inflammatory disease, adhesion to the oviduct, and endometriosis. We report the case of a 12-year-old girl who presented with severe dysmenorrhea and abnormal vaginal discharge. The patient was diagnosed with OHVIRA based on magnetic resonance imaging findings. The patient underwent combined transvaginal and laparoscopic surgery for drainage of hematocolpos and adhesiolysis of the pelvic cavity. The patient had an uncomplicated recovery and normal menstrual cycle after surgery. OHVIRA is a rare syndrome, of which delayed diagnosis may result in the development of endometriosis. We report that a combined laparoscopic and transvaginal approach was useful for treating OHVIRA with oviductal hematoma. • Obstructed hemivaginal ipsilateral renal agenesis is a rare urogenital malformation. • A delayed diagnosis may result in the development of endometriosis. • Laparoscopic examination can be of great help to confirm uterine morphology. • This examination is used for precise diagnosis and reducing risks of complications. [ABSTRACT FROM AUTHOR]

Patients with aspirin-exacerbated respiratory disease (AERD) regularly exhibit severe nasal polyposis. Studies suggest that chronic rhinosinusitis with nasal polyps (CRSwNP) is characterized by excessive fibrin deposition associated with a profound decrease in epithelial tissue plasminogen activator (tPA). Retinoids, including vitamin A and its active metabolite retinoic acid (RA), are necessary for maintaining epithelial function and well-known inducers of tPA in endothelial cells. This study sought to determine whether endogenous retinoids are involved in NP pathophysiology and disease severity in patients with CRSwNP and AERD. NP tissue was collected from patients with AERD or CRSwNP, and concentrations of retinoids and fibrinolysis markers were measured using ELISA. Normal human bronchial epithelial cells were stimulated alone or in combination with RA and IL-13 for 24 hours. This study observed lower retinoid levels in nasal polyps of patients with AERD than those with CRSwNP or healthy controls (P <.01). Levels of the fibrin-breakdown product d-dimer were the lowest in AERD polyps (P <.01), which is consistent with lower tPA expression (P <.01). In vitro , all-trans RA upregulated tPA levels in normal human bronchial epithelial cells by 15-fold and reversed the IL-13–induced attenuation of tPA expression in cultured cells (P <.01). RA, a potent inducer of epithelial tPA in vitro , is reduced in tissue from patients with AERD, a finding that may potentially contribute to decreased levels of tPA and fibrinolysis in AERD. RA can induce tPA in epithelial cells and can reverse IL-13–induced tPA suppression in vitro , suggesting the potential utility of RA in treating patients with CRSwNP and/or AERD. [Display omitted] [ABSTRACT FROM AUTHOR]

Advances in image quality from modern dual-energy X-ray absorptiometry (DXA) scanners now allow near radiograph-like quality images at a low radiation dose. This opens potential new applications for the use of DXA scanners to study other musculoskeletal conditions, such as osteoarthritis, which is often investigated by visual assessment of radiographs. Together, osteoporosis and osteoarthritis are the 2 most common musculoskeletal conditions, both of which primarily affect older people. The aim of this study was to determine whether Kellgren-Lawrence grading of DXA images can be used to grade hip osteoarthritis as effectively as radiographs. People who had attended for recent pelvic radiographs underwent DXA of hips (50 hips from 25 people) using a GE Healthcare iDXA scanner. Three observers assigned Kellgren-Lawrence grades to each image, and grading was repeated at least 1 week apart. Intraobserver and interobserver reliability for radiographs and DXA images were calculated using quadratic-weighted kappa (QWK). People were recalled 12 months later, and the tests were repeated with both the radiograph and DXA scans taken within 2 weeks of each other. Hip DXA intraobserver reproducibility achieved a QWK range of 0.88–0.95 and interobserver reproducibility of 0.85–0.88, similar to QWK from hip radiographs. Intraobserver reliability between subject-matched radiograph and iDXA images revealed QWK ranging between 0.80 and 0.88. Reproducibility of hip osteoarthritis grading using DXA was comparable with that of radiographs in this study and similar to repeatability scores previously published in literature. Given the lower radiation dose and the opportunity to simultaneously investigate osteoporosis, DXA presents an attractive imaging option for osteoarthritis. [ABSTRACT FROM AUTHOR]

Abstract: Information regarding the ancestral and geographical origins of biological evidence samples may be useful for crime investigators as they narrow down the possible donors of the sample. A method for simultaneous analysis of seven biallelic markers (M130, M131, M57, M125, M175, M122 and M134) was developed for forensic application. M57, M125 and M131 are included to identify haplogroups inferred as having originated in the Japanese archipelago. Our method employs allele-specific PCR and fragment analysis using fluorescently labeled primers and capillary electrophoresis. This method can be used to assign a haplogroup from both of degraded male DNA samples and DNA samples containing a mixture of female and male DNA by designing PCR primers that generate small amplicons and are highly specific for targets on the Y chromosome. A total of 1346 samples from Japanese males collected from the four major islands and Okinawa island were classified into seven Y binary haplogroups i.e., C-M130, C-M131, D-M57, D-M125, O-M175, O-M122 and O-M134, and a “no-mutation detected” group and their frequencies were 0.0617, 0.0565, 0.1441, 0.182, 0.3418, 0.11, 0.0847 and 0.0193, respectively. Samples of “no-mutation detected” were further analyzed by direct sequencing for identification of the major haplogroup to which they belong. Along with the haplogroup data, we report haplotype data for the 16 Y-STR markers included in the AmpFlSTR® Yfiler™ PCR amplification kit (Applied Biosystems). These data will be useful in the prediction of haplogroups based on Y-STR haplotypes. [Copyright &y& Elsevier]

Allele frequencies for nine short tandem repeats (STR) loci: D3S1358, vWA, FGA, TH01, TPOX, CSF1PO, D5S818, D13S317 and D7S820 were determined in a Japanese population using the AmpFℓSTR Profiler PCR amplification kit (Applied biosystems). [Copyright &y& Elsevier]

• DHEA-S and testosterone showed positive correlations with androstenediol in perimenopausal. • Estradiol showed negative correlations with androstenediol in the menopausal transition. • Cortisol showed positive correlations with androstenediol in the mid and late reproductive stage. • Androstenediol may play a compensatory role for estrogen deficiency. Associations of androstenediol, which has both androgenic and estrogenic activities, with circulating reproductive hormones and stress hormone in women during the menopausal transition may be different depending on the menopausal stage. The aim of this study was to determine the changes in circulating androstenediol during the menopausal transition in Japanese women and the associations of androstenediol with estrogen, androgen and cortisol for each stage of the menopausal transition. We divided the 104 subjects into 6 stages by menstrual regularity and follicle-stimulating hormone level: mid reproductive stage, late reproductive stage, early menopausal transition, late menopausal transition, very early postmenopause and early postmenopause. Levels of dehydroepiandrosterone sulfate (DHEAS), estradiol, estrone, testosterone (T), free T, androstenedione and cortisol were measured. Serum androstenediol concentration was measured by using liquid chromatography mass spectrometry. There were no significant differences in androstenediol levels among the 6 stages. Levels of DHEA-S and testosterone showed significant and positive correlations with androstenediol in all stages. Estradiol levels showed negative correlations with androstenediol levels in the late menopausal transition and very early postmenopause (r=-0.452, p = 0.052 and r=-0.617, p = 0.006, respectively). Cortisol levels showed significant and positive correlations with androstenediol levels in the mid and late reproductive stages (r = 0.719, p = 0.003 and r = 0.808, p < 0.001, respectively).The associations of androstenediol with estradiol and cortisol were different depending on the stage of the menopausal transition. Androstenediol may play a compensatory role for estrogen deficiency from late menopausal transition to very early postmenopause. [ABSTRACT FROM AUTHOR]

• The effects of estrogen on body weight and appetite in post-menopausal conditions have been well established, but effects of progesterone have not been unclear. • Administration of progesterone to ovariectomized rats reduces body weight, dietary intake, subcutaneous fat mass. • Progesterone treatment may have favorable effects on body weight, appetite, and fat mass regulation in post-menopausal conditions. While the effects of progesterone on body weight and appetite in pre-menopausal conditions have been well elucidated, its effects in post-menopausal conditions have not been clarified. On the contrary, the effects of estrogen on body weight and appetite in post-menopausal conditions have been well established. In this study, the effects of progesterone treatment on body weight, appetite, and fat mass in ovariectomized rats were evaluated. In addition, the central and/or peripheral levels of oxytocin (OT), leptin, and their receptors, which are potent anorectic factors, were examined. Female rats were ovariectomized and divided into control, progesterone-treated, and estrogen-treated groups. Body weight, food intake, and subcutaneous fat mass were lower in both the progesterone and estrogen groups than in the control group. The estrogen group exhibited higher serum OT levels than the control group, whereas the OT levels of the progesterone and control groups did not differ. The serum leptin levels of both the progesterone and estrogen groups were lower than those of the control group. Gene expression analysis of OT, leptin, and their receptors in the hypothalamus and adipose tissue found few significant differences among the groups. Hypothalamic neuropeptide Y (NPY) and pro-opiomelanocortin (POMC) mRNA levels involved in appetite regulation were slightly altered in the progesterone and estrogen groups. These findings suggest that progesterone treatment may have favorable effects on body weight, appetite, and fat mass regulation in post-menopausal conditions and that the mechanisms underlying these effects of progesterone differ from those underlying the effects of estrogen. [ABSTRACT FROM AUTHOR]

• Testosterone increased serum OT levels, up-regulated the expression of OT receptors mRNA levels in the hypothalamus and promoted the secretion of adiponectin from visceral fat. • Testosterone reduced body fat directly and/or indirectly through OT and adiponectin. • The preventative effects of OT on obesity might be synergistic with testosterone. • Testosterone replacement therapy is useful for preventing obesity caused by hypogonadism, and OT has potential in supportive medicine to prevent obesity and adult diseases. Sex steroid hormones are important for the maintenance of metabolism in both sexes. Oxytocin (OT) is a neuropeptide that is synthesized in hypothalamic regions, secreted from the posterior lobe of the pituitary gland, and is involved in the control of appetite, body weight, and metabolism. Estrogen and OT both play a role in the metabolism of nutrients, and OT has potential in the prevention of obesity. However, the relationship between testosterone and OT remains unclear. Therefore, the present study investigated the relationship between testosterone and OT in hypogonadal male rats and male rats receiving testosterone replacement therapy. The results obtained showed that testosterone increased serum OT levels and promoted the secretion of adiponectin from visceral fat, and reduced body fat directly and/or indirectly through OT and adiponectin. Testosterone also increased the expression of OT receptors in the hypothalamus to increase sensitivity to OT, and perhaps because of this, OT administration had the effect of reducing food intake and body weight gain in both normal and castrated rats, and this effect was stronger in normal rats. In other words, the preventative effects of OT on obesity may be synergistic with testosterone. Collectively, the present results indicate that testosterone exerts indirect effects to prevent obesity and atherosclerosis through OT and adiponectin. In conclusion, testosterone replacement therapy is useful for preventing obesity caused by hypogonadism, and OT has potential in supportive medicine to prevent obesity and adult diseases. [ABSTRACT FROM AUTHOR]

Abstract: Twenty-six bone DNA identification cases are described. The postmortem periods of the studied remains ranged from three days to over 30 years, and the locations where the remains were found varied resulting in a variety of postmortem conditions. Nuclear DNA typing using an AmpFLSTR Profiler kit and mitochondrial DNA (mtDNA) typing of hypervariable regions 1 and 2 (HV1 and HV2) in a control region were performed both with decalcified and non-treated bone powder samples. Decalcification was shown to improve the success of DNA typing. The nucleotide sequences of the HV1 and HV2 regions were successfully determined in all cases examined. Nuclear DNA typing was very successful, more than half of the loci were typed during multiple amplifications (10 loci in one reaction) in 23 cases. Polymerase chain reaction (PCR) inhibition was observed in five cases including three samples that were found buried in soil. This inhibitory effect was identified as the result of unbalanced multiple PCR during the profiler test. These results revealed that DNA typing targeting nuclear DNA is a potentially powerful tool for bone identification. [Copyright &y& Elsevier]