Read by QxMD icon Read


Anny Reyes, Thomas Thesen, Ruben Kuzniecky, Orrin Devinsky, Carrie R McDonald, Graeme D Jackson, David N Vaughan, Karen Blackmon
OBJECTIVE: Amygdala enlargement (AE) is observed in patients with temporal lobe epilepsy (TLE), which has led to the suggestion that it represents a distinct TLE subtype; however, it is unclear whether AE is found at similar rates in other epilepsy syndromes or in healthy controls, which would limit its value as a marker for focal epileptogenicity. METHODS: We compared rates of AE, defined quantitatively from high-resolution T1-weighted MRI, in a large multi-site sample of 136 patients with nonlesional localization related epilepsy (LRE), including TLE and extratemporal (exTLE) focal epilepsy, 34 patients with idiopathic generalized epilepsy (IGE), and 233 healthy controls (HCs)...
May 2017: Epilepsy Research
Isaac Canals, Noelia Benetó, Mónica Cozar, Lluïsa Vilageliu, Daniel Grinberg
Sanfilippo syndrome is a rare lysosomal storage disorder caused by an impaired degradation of heparan sulfate (HS). It presents severe and progressive neurodegeneration and currently there is no effective treatment. Substrate reduction therapy (SRT) may be a useful option for neurological disorders of this kind, and several approaches have been tested to date. Here we use different siRNAs targeting EXTL2 and EXTL3 genes, which are important for HS synthesis, as SRT in Sanfilippo C patients' fibroblasts in order to decrease glycosaminoglycan (GAG) storage inside the lysosomes...
2015: Scientific Reports
Mia E Miller, Bill Mastrodimos, Roberto A Cueva
Objective To evaluate facial nerve function after excision of petroclival/anterior cerebellopontine angle (CPA) meningiomas by the extended translabyrinthine (EXTL) approach and compare these with outcomes after the transcochlear and transotic approaches. Design Retrospective chart review. Setting/Participants A search of archived surgical cases at a single institution between January 1, 1995, and January 1, 2012. Main Outcome Measures Facial function measured on the House-Brackmann (HB) scale. Results A total of 16 patients underwent the EXTL approach for primary excision of petroclival meningiomas...
February 2015: Journal of Neurological Surgery. Part B, Skull Base
Satomi Nadanaka, Shoji Kagiyama, Hiroshi Kitagawa
The gene products of two members of the EXT (exostosin) gene family, EXT1 and EXT2, function together as a polymerase in the biosynthesis of heparan sulfate. EXTL2 (EXT-like 2), one of the three EXTL genes in the human genome that are homologous to EXT1 and EXT2, encodes an N-acetylhexosaminyltransferase. We have demonstrated that EXTL2 terminates chain elongation of GAGs (glycosaminoglycans), and thereby regulates GAG biosynthesis. The abnormal GAG biosynthesis caused by loss of EXTL2 had no effect on normal development or normal adult homoeostasis...
August 15, 2013: Biochemical Journal
F Buschmann, K Wagner, B Metternich, S Biethahn, J Zentner, A Schulze-Bonhage
Quality of life (QOL) with respect to seizure outcome, cognitive performance, and depressive symptoms was analyzed in 21 adult patients undergoing extratemporal epilepsy surgery (EXTLE). The Subjective Handicap of Epilepsy questionnaire was administered before and 1 year after surgery. Additionally, cognitive performance, depressive symptoms (Beck Depression Inventory), and seizure frequency were assessed. After surgery, seizure frequency decreased and various aspects of QOL significantly improved. Improvements in the domain of Work and Activities correlated with a reduction in complex partial seizure frequency...
June 2009: Epilepsy & Behavior: E&B
Marta Busse, Almir Feta, Jenny Presto, Maria Wilén, Mona Grønning, Lena Kjellén, Marion Kusche-Gullberg
The exostosin (EXT) family of genes encodes glycosyltransferases involved in heparan sulfate biosynthesis. Five human members of this family have been cloned to date: EXT1, EXT2, EXTL1, EXTL2, and EXTL3. EXT1 and EXT2 are believed to form a Golgi-located hetero-oligomeric complex that catalyzes the chain elongation step in heparan sulfate biosynthesis, whereas the EXTL proteins exhibit overlapping glycosyl-transferase activities in vitro, so that it is not apparent what reactions they catalyze in vivo. We used gene-silencing strategies to investigate the roles of EXT1, EXT2, and EXTL3 in heparan sulfate chain elongation...
November 9, 2007: Journal of Biological Chemistry
F Lacaz-Vieira, M M Marques
A mathematical modeling of tight junction (TJ) dynamics was elaborated in a previous study to better understand the dynamics of TJ opening and closing, as well as oscillations of TJ permeability that are observed in response to changes of extracellular Ca(2+) levels. In this model, TJs were assumed to be specifically controlled by the Ca(2+) concentration levels at the extracellular Ca(2+) binding sites of zonula adhaerens. Despite the fact that the model predicts all aspects of TJ dynamics, we cannot rule out the likelihood that changes of intracellular Ca(2+) concentration (Ca(2+) (cell)), which might result from changes \ of extracellular Ca(2+) concentration (Ca(2+) (extl)), contribute to the observed results...
November 15, 2003: Journal of Membrane Biology
E Kumlien, A Nilsson, G Hagberg, B Långström, M Bergström
OBJECTIVES: This study compares positron emission tomography (PET) using 11C-deuterium-deprenyl (DED) with PET using 18F-fluorodeoxyglucose(18F-FDG) for examining epileptogenic regions in patients with focal epilepsy. MATERIAL AND METHODS: Twenty-three patients undergoing evaluation for epilepsy surgery were subjected to PET with DED. Fourteen patients had mesial temporal lobe epilepsy (TLE) and 9 patients had seizures of neocortical origin. In addition, 6 healthy control subjects were examined...
June 2001: Acta Neurologica Scandinavica
L Xu, J Xia, H Jiang, J Zhou, H Li, D Wang, Q Pan, Z Long, C Fan, H X Deng
Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant bone disorder. It is genetically heterogeneous with at least three chromosomal loci: EXT1 on 8q24.1, EXT2 on 11p11, and EXT3 on 19p. EXT1 and EXT2, the two genes responsible for EXT1 and EXT2, respectively, have been cloned. Recently, three other members of the EXT gene family, named the EXT-like genes (EXTL: EXTL1, EXTL2, and EXTL3), have been isolated. EXT1, EXT2, and the three EXTLs are homologous with one another. We have identified the intron-exon boundaries of EXTL1 and EXTL3 and analyzed EXT1, EXT2, EXTL1, and EXTL3, in 36 Chinese families with EXT, to identify underlying disease-related mutations in the Chinese population...
July 1999: Human Genetics
I Bièche, A Khodja, R Lidereau
Distal alterations of the short arm of chromosome 1 are among the most frequent cytogenetic abnormalities in human breast carcinoma. We studied 96 primary human breast carcinomas for allelic imbalance using a panel of 31 polymorphic microsatellite, restriction fragment length polymorphism, and variable number of tandem repeat markers located mainly in the 1p32-pter region. Allelic imbalance at one or more loci was observed on the short arm of chromosome 1 in 56 (58.3%) of the 96 tumors. The 56 1p-altered tumor DNAs showed loss of heterozygosity (LOH), 12 (21...
March 1999: Genes, Chromosomes & Cancer
L J Hirsch, A H Lain, T S Walczak
PURPOSE: We observed many patients with temporal lobe epilepsy (TLE) wiping their nose postictally, usually with the hand ipsilateral to their seizure focus. We wished to determine if this had lateralizing or localizing significance. METHODS: We retrospectively studied 87 patients: 47 with unilateral TLE defined by successful surgical outcome [30 with medial TLE (MTLE) and 17 with neocortical TLE (neoTLE)]; and 40 with extratemporal epilepsy (ExTLE). Videotapes of 319 complex partial seizures (CPS) without generalization were reviewed by 1 neurologist, blinded to patient identity, who recorded each episode of nosewiping and the hand with which it was performed...
September 1998: Epilepsia
W Van Hul, W Wuyts, J Hendrickx, F Speleman, J Wauters, K De Boulle, N Van Roy, P Bossuyt, P J Willems
Two homologous genes, EXT1 and EXT2, responsible for the development of benign multiple cartilagenous bone tumors (exostoses) on the long bones, have been identified in the past 2 years. Several arguments have been provided to support the hypothesis that these genes have tumor suppressor activity and that loss of function of these genes may contribute to the development of bone tumors. The recent identification of two EXT-like genes, EXTL1 and EXTL2, homologous to the EXT genes and to each other, revealed the existence of a larger family of genes...
January 15, 1998: Genomics
W Wuyts, W Van Hul, J Hendrickx, F Speleman, J Wauters, K De Boulle, N Van Roy, T Van Agtmael, P Bossuyt, P J Willems
Recently, two homologous genes, EXT1 and EXT2, with a putative tumor suppressor function have been described. Mutations in both genes are responsible for multiple exostosis syndrome (EXT), an autosomal dominant condition characterized by the presence of multiple osteochondromas, bony excrescences that sometimes undergo malignant transformation to chondrosarcoma. This family of EXT genes has been extended by the identification of an EXT-like (EXTL) gene showing a high degree of homology with the EXT genes. We report here a second EXT-like gene (EXTL2) which is homologous to the EXT and EXTL genes...
November 1997: European Journal of Human Genetics: EJHG
C A Wise, G A Clines, H Massa, B J Trask, M Lovett
Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by multiple bony outgrowths from the juxtaepiphyseal region of long bones. In a small proportion of cases, these exostoses progress to malignant chondrosarcomas. Genetic linkage of this disorder has been described to three independent loci on chromosomes 8q24.1 (EXT1), 11p11-13 (EXT2), and 19p (EXT-3). The EXT1 and EXT2 genes were isolated recently and show extensive sequence homology to each other. These genes are deleted in exostoses-derived tumors, supporting the hypothesis that they encode tumor suppressors...
January 1997: Genome Research
T S Till
Ninety-two female nursing students, 56 at entry (ENTL) to and 36 at exit (EXTL) from the baccalaureate program, participated in an investigation of the relationship between sex-role identity and image of nursing. Bem's Sex Role Inventory, which allows subjects to receive both masculinity and femininity scores, was used to categorize subjects as masculine, androgynous, feminine, or undifferentiated. Frank's Image of Nursing Questionnaire was used to evaluate subjects' image of nursing. Study purposes were to: compare the sex-role identity of nursing students and general college females, compare the image of nursing held by nursing students with the image advanced by the profession, determine the relationship between sex-role categorization and image of nursing, and determine the relationship between level of endorsement of masculine and feminine characteristics and image of nursing...
September 1980: Nursing Research
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"