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In many cases of callosal dysgenesis in both human patients and mouse models, misguided fibers from the cortex form abnormal bilateral, barrel-shaped structures known as Probst bundles. Because little is known about how axons are arranged within these anomalous fiber bundles, understanding this arrangement may provide structural and molecular insights into how axons behave when they are misguid...
BACKGROUND dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired gonadal or adrenal functionality. METHODS/DESIGN The study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health a...
and [[xy]z] + [[yz]x] + [[zx]y] = 0. Left multiplication in a Lie algebra is denoted by ad(x): ad(x)(y) = [x, y]. An associative algebra A becomes a Lie algebra A− under the product, [xy] = xy − yx. The first axiom implies that [xy] = −[yx] and the second (called the Jacobi identity) implies that x 7→ adx is a homomorphism of L into the Lie algebra (EndL)−, that is, ad [xy] = [adx, ad y]. Assum...
OBJECTIVE To examine the performance of chromosome-selective sequencing of cell-free (cf) DNA in maternal blood for assessment of fetal sex chromosome aneuploidies. METHODS This was a case-control study of 177 stored maternal plasma samples, obtained before fetal karyotyping at 11-13 weeks of gestation, from 59 singleton pregnancies with fetal sex chromosome aneuploidies (45,X, n = 49; 47,XXX...
BACKGROUND Families with 46,XY Disorders of Sex Development (DSD) have been reported, but they are considered to be exceptionally rare, with the exception of the familial forms of disorders affecting androgen synthesis or action. The families of some patients with anorchia may include individuals with 46,XY gonadal dysgenesis. We therefore analysed a large series of patients with 46,XY DSD or a...
Accurate assessment of gestational age, fetal growth, and the detection of fetal and placental abnormalities are major benefits of sonography. Color Doppler can be used to assist in the identification of vascular architecture, detection of vascular pathology and visualization of blood flow changes associated with physiologic processes and disease states. The clinical applications of obstetrical...
A 13 year old female presented with ambiguous external genitalia, right inguinal ovotestis, left ovary, apparently normal Mullerian system, and absent Wolffian system. Cultured lymphocytes showed a 46,XX/46,XY karyotype. Histopathology of the gonads confirmed true hermaphroditism. The presence of two genetically different erythrocyte populations was observed. The findings suggested that the pat...
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