نتایج جستجو برای: triple x syndrome

تعداد نتایج: 1235406  

2018
Daniel Tibussek Sujal Ghosh Angela Huebner Joerg Schaper Ertan Mayatepek Katrin Koehler

BACKGROUND Triple A syndrome (or Allgrove syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic/neurological abnormalities. The majority of cases are caused by mutations in the AAAS gene located on chromosome 12q13. However, the clinical picture as well as genetic testing may be complex since symptomatology is variable and mut...

2013
Luigi Mazzone Valentina Postorino Lavinia De Peppo Lia Vassena Laura Fatta Marco Armando Giuseppe Scirè Marco Cappa Stefano Vicari

Triple A syndrome is an autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone resistant adrenal insufficiency, achalasia, and alacrima. Our aim was to describe the neuropsychological characteristics and the cooccurring psychopathological and neurological disorders in an Italian male child suffering from Triple A syndrome at the time of admission (T0) and after o...

Journal: :J. Applied Mathematics 2012
Hongmei Yao Baodong Zheng

Let A be an algebra over a commutative unital ring C. We say that A is zero triple product determined if for every C-module X and every trilinear map {·, ·, ·}, the following holds: if {x, y, z} 0 whenever xyz 0, then there exists a C-linear operator T : A3 −→ X such that {x, y, z} T xyz for all x, y, z ∈ A. If the ordinary triple product in the aforementioned definition is replaced by Jordan t...

2015
Erica Everest Laurie A. Tsilianidis Anzar Haider Douglas G. Rogers Nouhad Raissouni Bahareh Schweiger

We describe the case of a ten-year-old girl with short stature and 45,X/47,XXX genotype. She also suffered from vesicoureteric reflux and kidney dysfunction prior to having surgery on her ureters. Otherwise, she does not have any of the characteristics of Turner nor Triple X syndrome. It has been shown that this mosaic condition as well as other varieties creates a milder phenotype than typical...

2011
Ji Young Kwon In Yang Park Yong Gue Park Young Lee Guisera Lee Jong Chul Shin

The purpose of the current study was to propose a Korean-specific parameter set for calculating the risk of Down syndrome in the second trimester of pregnancy and to determine the screening performances of triple and quadruple tests in Korean women. Using the data on triple or quadruple screening from three hospitals in Korea during 7 yr, we re-converted the concentrations of four serum markers...

2016
Mohammad Vahedi Shima Fathi Hanif Allahbakhshi

Triple-A syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder. The 3 features of this syndrome are achalasia, adrenal insufficiency, and alacrima. Achalasia could be the first manifestation of the triple-A syndrome; however, its etiology is unclear. Alacrima is generally asymptomatic but can be detected by obtaining patient history. Although adrenal insufficiency co...

Journal: :Prenatal diagnosis 2011
Inusha Panigrahi Seema Thakur Srinivasa Murthy

In the Prenatal Diagnosis special issue of July 2010, a good prediction was made by the author (Dennis Lo, 2010) on non-invasive methods of diagnosis of fetal anomalies. Non-invasive prenatal diagnoses are useful in the detection of fetal genetic abnormalities, aneuploidies and high-risk pregnancy. Fetal DNA analysis in maternal plasma using single molecule analysis method, no doubt, will defin...

Journal: :J. Comb. Theory, Ser. A 1999
Yanxun Chang Giovanni Lo Faro

A Steiner triple system of order v (briefly STS(v)) is a pair (X, B) where X is a v-set and B is a collection of 3-subset of X (called triple) such that every pair of distinct elements of X belongs to exactly one triple of B. A Kirkman triple system of order v (briefly KTS(v)) is a Steiner triple system of order v (X, B) together with a partition R of the set of triples B into subsets R1 , R2 ,...

2013
Wei Yu Kunpeng Wang Bao Li Song Tian

Triple-base number systems are mainly used in elliptic curve cryptography to speed up scalar multiplication. We give an upper bound on the length of the canonical triple-base representation with base {2, 3, 5} of an integer x, which is O( log x log log x ) by the greedy algorithm, and show that there are infinitely many integers x whose shortest triple-base representations with base {2, 3, 5} h...

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