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Sep 23, 2017
Ataseven E, Tüfekçi Ö, Yilmaz Ş, Güleryüz H, Ören H
Dimethyl sulfoxide (DMSO) is a cryoprotective agent used in storage of frozen stem cells in stem cell transplantation. Central nervous system side effects of DMSO such as epileptic seizures, stroke, transient global am...
Sep 23, 2017
Canbolat Ayhan A, Timur C, Kalaycik O
BACKGROUND: We aimed to evaluate the complications that we observed in children with acute lymphoblastic leukemia (ALL) during the remission induction, consolidation, and reinduction phases of chemotherapy retrospectiv...
Sep 23, 2017
Tolaymat A, Liu Z
Sleep problems are frequently addressed as a primary or secondary concern during the visit to the pediatric neurology clinic. Sleep disorders can mimic other neurologic diseases (e.g., epilepsy and movement disorders),...
Sep 23, 2017
Himmelstein DS, Lizee A, Hessler C, Brueggeman L, Chen SL, Hadley D, Green A, Khankhanian P, Baranzini SE
The ability to computationally predict whether a compound treats a disease would improve the economy and success rate of drug approval. This study describes Project Rephetio to systematically model drug efficacy based ...
Sep 23, 2017
Wang Y, Zhang W, Yin J, Lu Q, Yin F, He F, Peng J
BACKGROUND AND PURPOSE: We analyzed the clinical manifestations of children with anti-N-methyl-d-aspartate receptor (anti-NMDAR) encephalitis in Central South China and the factors influencing the effectiveness of trea...
Sep 23, 2017
Malik A, Amer AB, Salama M, Haddad B, Alrifai MT, Balwi MA, Davies W, Eyaid W
BACKGROUND: X-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental a...
Sep 22, 2017
Davis K, Webster D, Smith C, Jackson S, Sinasac D, Seargeant L, Wei XC, Ferreira P, Midgley J, Foster Y, Li X, He M, Al-Hertani W
Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with mos...
Sep 22, 2017
Rivera B, Gayden T, Carrot-Zhang J, Nadaf J, Boshari T, Faury D, Zeinieh M, Blanc R, Burk DL, Fahiminiya S, Bareke E, Schüller U, Monoranu CM, Sträter R, Kerl K, Niederstadt T, Kurlemann G, Ellezam B, Michalak Z, Thom M, Lockhart PJ, Leventer RJ, Ohm M, MacGregor D, Jones D, Karamchandani J, Greenwood CM, Berghuis AM, Bens S, Siebert R, Zakrzewska M, Liberski PP, Zakrzewski K, Sisodiya SM, Paulus W, Albrecht S, Hasselblatt M, Jabado N, Foulkes WD, Majewski J
Dysembryoplastic neuroepithelial tumor (DNET) is a benign brain tumor associated with intractable drug-resistant epilepsy. In order to identify underlying genetic alterations and molecular mechanisms, we examined three...
Sep 22, 2017
Graziano AP, Sancilio A, Bugalter M, Barbosa W, Rodríguez F, Montali C, García Munitis P
Stroke in childhood is considered rare. It may be ischemic or hemorrhagic. Its presentation is often acute and it is a leading cause of mortality in pediatrics. The aim of our work is to present the general features of...
Sep 22, 2017
Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K
CLINICAL CHARACTERISTICS: Ethylmalonic encephalopathy (EE) is a severe, early-onset, progressive disorder characterized by developmental delay / mild-to-severe intellectual disability; generalized infantile hypotonia t...