Radiological Findings of Two Sisters with Aceruloplasminemia Presenting with Chorea
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Neuroradiology"
DOI: 10.1007/s00062-017-0573-0
Abstract: The amount of intracellular free iron is strictly regulated by its binding to ferritin. Ceruloplasmin oxidizes a surplus of intracellular free iron into a ferric state and exports ferric iron from the cell. Thus, ceruloplasmin… read more here.
Keywords: two sisters; findings two; iron; presenting chorea ... See more keywords
Gene dosage of DAX-1, determining in sexual differentiation: duplication of DAX-1 in two sisters with gonadal dysgenesis
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Biology Reports"
DOI: 10.1007/s11033-019-04758-y
Abstract: Two sisters phenotypically normal females, presenting with tumor abdominal mass with histopathological findings of teratoma and gonadoblastoma associated to 46,XY male-to-female sex reversal syndrome, secondary to a duplication in DAX-1, possibly inherited of maternal gonadal… read more here.
Keywords: two sisters; dax; gonadal dysgenesis; duplication ... See more keywords
#CancelTheDuggars and #BoycottTLC: Image repair or exploitation in reality television
Sign Up to like & getrecommendations! Published in 2017 at "Public Relations Review"
DOI: 10.1016/j.pubrev.2017.12.001
Abstract: Abstract This case study examined the network TLC’s response to Josh Duggar’s (from their reality show 19 Kids and Counting) confirmation that he molested young girls, including two of his sisters, when he was a… read more here.
Keywords: image; two sisters; image repair; reality ... See more keywords
A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters
Sign Up to like & getrecommendations! Published in 2019 at "Gynecological Endocrinology"
DOI: 10.1080/09513590.2019.1650342
Abstract: Abstract Congenital adrenal hyperplasia (CAH) is a group of rare orphan disorders caused by mutations in seven different enzymes that impair cortisol biosynthesis. The 17α-hydroxylase deficiency (17OHD) is one of the less common forms of… read more here.
Keywords: two sisters; hydroxylase deficiency; adrenal hyperplasia; congenital adrenal ... See more keywords
Two sisters with myoclonus and ataxia
Sign Up to like & getrecommendations! Published in 2020 at "Practical Neurology"
DOI: 10.1136/practneurol-2019-002446
Abstract: A 26-year-old woman (patient 1 on the family tree—figure 1) gave a 6-year history of dysarthria, occasional jerks and progressive gait unsteadiness with frequent falls, and had become bedridden. On examination, she had dorsal kyphosis… read more here.
Keywords: two sisters; sisters myoclonus; family tree; myoclonus ... See more keywords
Invasive Streptococcus agalactiae ST283 infection after fish consumption in two sisters, Lao PDR
Sign Up to like & getrecommendations! Published in 2022 at "Wellcome Open Research"
DOI: 10.12688/wellcomeopenres.17804.2
Abstract: Background: Streptococcus agalactiae is a normal commensal of the human gastro-intestinal and female genital tracts. It causes serious disease in neonates and pregnant women, as well as non-pregnant adults. Food-borne outbreaks have also been described.… read more here.
Keywords: two sisters; consumption; st283 infection; infection ... See more keywords