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Normal Female (normal + female)

Distribution by Scientific Domains

Medical Sciences	50%

Selected Abstracts

Identification of a small supernumerary marker chromosome, r(2)(p10q11.2), and the problem of determining prognosis

PRENATAL DIAGNOSIS, Issue 10 2001
N. Villa
Abstract The identification of small supernumerary marker chromosomes (SMCs) and the elucidation of their clinical significance remain two of the problems in classical human cytogenetics. We observed a small supernumerary ring in amniotic fluid cell cultures and identified its origin as r(2)(p10q11.2) and its extent by means of fluorescent in situ hybridisation (FISH). Uniparental disomy (UPD) was excluded by microsatellite analysis using polymorphic markers localised in the same region. On the basis of normal ultrasonographic checks, the patient decided to continue the pregnancy. A normal female was delivered at term and subsequent neonatal follow-ups confirmed the normal phenotype and development. In the present case, genetic counselling was not helpful because of the absence of reference cases. Detailed characterisation made it possible to correlate the normal baby phenotype with the trisomic 2p10-2q11.2 genomic region. Further molecular cytogenetic investigations of SMCs classified by DNA content and pregnancy outcome data should improve genetic counselling and risk evaluation. Copyright © 2001 John Wiley & Sons, Ltd. [source]

In situ male breast carcinoma in the Surveillance, Epidemiology, and End Results database of the National Cancer Institute,

CANCER, Issue 8 2005
M.P.H., William F. Anderson M.D.
Abstract BACKGROUND In situ breast carcinoma is not so well characterized for men as for women. METHODS Therefore, the authors of the current study compared male and female in situ and invasive breast carcinomas in the Surveillance, Epidemiology, and End Results (SEER) database of the National Cancer Institute to document these patterns. RESULTS In situ breast carcinomas composed 9.4% of all male (n = 280 of 2984) and 11.9% of all female breast carcinomas (n = 53,928 of 454,405) during the years 1973,2001. In situ rates rose 123% for men and 555% for women over this time period; whereas distant disease rates fell for both genders. Median ages at diagnosis were 62 years for in situ and 68 years for invasive breast carcinoma among men, compared with 58 years for in situ and 62 years for invasive breast carcinoma among women. Papillary in situ and invasive architectural types were more common among men than women. In contrast, lobular tumors were more common among women than men. Breast cancer-specific survival was similar among men and women, whereas overall survival was worse for men than women. CONCLUSION In situ male breast carcinoma is a rare disease, occurring at older ages and with different architectural types than its more common female counterpart. Gender-specific histopathologic differences probably reflect anatomic differences among the normal female and vestigial male breast. Rising in situ male breast carcinoma incidence rates over the past three decades suggest earlier detection over time, irrespective of mammography, because men do not participate in routine screening mammography. Worse overall survival for men than women possibly results from age-dependent comorbid illnesses. Cancer 2005. Published 2005 American Cancer Society. [source]

Turner syndrome and the evolution of human sexual dimorphism

EVOLUTIONARY APPLICATIONS (ELECTRONIC), Issue 3 2008
Bernard Crespi
Abstract Turner syndrome is caused by loss of all or part of an X chromosome in females. A series of recent studies has characterized phenotypic differences between Turner females retaining the intact maternally inherited versus paternally inherited X chromosome, which have been interpreted as evidence for effects of X-linked imprinted genes. In this study I demonstrate that the differences between Turner females with a maternal X and a paternal X broadly parallel the differences between males and normal females for a large suite of traits, including lipid profile and visceral fat, response to growth hormone, sensorineural hearing loss, congenital heart and kidney malformations, neuroanatomy (sizes of the cerebellum, hippocampus, caudate nuclei and superior temporal gyrus), and aspects of cognition. This pattern indicates that diverse aspects of human sex differences are mediated in part by X-linked genes, via genomic imprinting of such genes, higher rates of mosaicism in Turner females with an intact X chromosome of paternal origin, karyotypic differences between Turner females with a maternal versus paternal X chromosome, or some combination of these phenomena. Determining the relative contributions of genomic imprinting, karyotype and mosaicism to variation in Turner syndrome phenotypes has important implications for both clinical treatment of individuals with this syndrome, and hypotheses for the evolution and development of human sexual dimorphism. [source]

Anorectal three-dimensional endosonography and anal manometry in assessing anterior rectocele in women: a new pathogenesis concept and the basic surgical principle

COLORECTAL DISEASE, Issue 1 2007
F. S. P. Regadas
Abstract Objective, The anatomy of the anal canal, the anorectal junction and the lower rectum was studied with 3-D ultrasound. Method, Seventeen women with normal bowel transit, without rectocele (group 1) and 17 female patients with a large anterior rectocele (group 2) were examined with a B&K Medical Rawk®. Mean age was 44.5 and 51.6 years respectively. In group 1, one (5.8%) patient was nuliparous, five (29.4%) had a caesarian section, 11 (64.7%) had a vaginal delivery while in group 2, two (11.7%) patients were nuliparous, four (23.5%) had a caesarian section and 11 (64.7%) had a vaginal delivery. Images were reconstructed in midline longitudinal (ML) and transverse (T) planes. The external (EAS) and internal (IAS) anal sphincters were measured in both projections. Results, In the ML plane, the EAS length was longer in group 1 (1.94 cm vs 1.61 cm, P < 0.05), the gap length was shorter (1.54 cm vs 1.0 cm P < 0.01) and the wall thickness was shorter in group 2 (0.40 cm vs 0.50 cm P < 0.01). The IAS (0.18 cm vs 0.23 cm P < 0.01) and EAS thickness (0.68 cm vs 0.77 cm, P < 0.05) (left lateral of the posterior quadrant) was greater in group 2. In group 1, the anterior upper anal canal wall in normal females was an extension of the rectal wall and the circular muscle was thicker in the mid-anal canal to form the IAS. In group 2, however, the wall layers were not identified and the IAS was found to be more distal. The differences were not statistically significant in the anal canal resting and squeeze pressures in the two groups. Conclusion, Obstetric trauma does not seem to play any role in rectocele pathogenesis because the anal sphincter muscles are anatomically and functionally normal and rectocele is also present in nuliparous and in women with caesarian sections. It seems that it is associated with the absence of EAS and thinner IAS in the anterior upper anal canal. Herniation starts at the upper anal canal extending to the lower rectum in high or large rectoceles and maybe produced by rectal intussusception because of excessive and prolonged straining during defecation. In fact, the denomination ,rectocele' should be changed to ,anorectocele'. [source]