Results 41 to 50 of about 2,303 (190)

SJOGREN-LARSSON SYNDROME

The Professional Medical Journal, 2006
We present a case report of two brothers suffering from Sjogren-Larsson syndrome, who were bornto consanguineous parents. Sjogren-Larsson syndrome is one of the congenital icthyoses with an autosomal recessiveinheritance . It is characterized by the combination of 1 congenital ichthyosis with spastic diplegia, moderate mentalretardation and retinopathy.
FAWAD MUZAFFAR, MAJID SUHAIL
openaire   +2 more sources

Effects of parabolic flight and spaceflight on the endocannabinoid system in humans [PDF]

, 2012
The endocannabinoid system (ECS) plays an important role in the regulation of physiological functions, from stress and memory regulation to vegetative control and immunity.
Chouker, Alexander, Feuerecker, Matthias, Hauer, Daniela, Kaufmann, Ines, Morukov, Boris, Nichiporuk, Igor, Schelling, Gustav, Strewe, Claudia   +7 more
core   +1 more source

A case report: Sjogren Larsson Syndrome [PDF]

Clinical Practice, 2019
Sjogren-Larsson Syndrome (SLS) is an autosomal recessive disorder with 100% penetrance. It has a characteristic set of clinical features, ichthyosis, spastic diplegia, and severe learning difficulties. To educate the patients about the treatment of dry skin and proper counseling regarding the genetic basis of disease are needed.
Desale Snehal, Gugle Anil, Kote Rahul, Jadhav Vikrant   +3 more
openaire   +1 more source

Genetic basis of dental agenesis - molecular genetics patterning clinical dentistry [PDF]

, 2013
Tooth agenesis is one of the most common congenital malformations in humans. Hypodontia can either occur as an isolated condition (non-syndromic hypodontia) or can be associated with a syndrome (syndromic hypodontia), highlighting the heterogeneity of ...
Chhabra, Anuj, Chhabra, Nidhi, Goswami, Mridula   +2 more
core   +1 more source

Determinants and clinical implications of circulating fatty acids in individuals with chronic kidney disease [PDF]

, 2013
Patients with chronic kidney disease (CKD) have a high risk of cardiovascular morbidity and mortality. Adding to traditional risk factors, e.g., Framingham risk factors, novel risk factors including inflammation, insulin resistance (IR) and metabolic ...
Huang, Xiaoyan
core   +1 more source

Monitoring of fatty aldehyde dehydrogenase by formation of pyrenedecanoic acid from pyrenedecanal

Journal of Lipid Research, 2010
Fatty aldehyde dehydrogenase (EC 1.2.1.48) converts long-chain fatty aldehydes to the corresponding acids. Deficiency in this enzyme causes the Sjogren Larsson Syndrome, a rare inherited disorder characterized by ichthyosis, spasticity, and mental ...
Markus A. Keller, Katrin Watschinger, Georg Golderer, Manuel Maglione, Bettina Sarg, Herbert H. Lindner, Gabriele Werner-Felmayer, Alessandro Terrinoni, Ronald J.A. Wanders, Ernst R. Werner   +9 more
doaj   +1 more source

N,N-diethylaminobenzaldehyde (DEAB) as a substrate and mechanism-based inhibitor for human ALDH isoenzymes [PDF]

, 2015
N,N-diethylaminobenzaldehyde (DEAB) is a commonly used "selective" inhibitor of aldehyde dehydrogenase isoenzymes in cancer stem cell biology due to its inclusion as a negative control compound in the widely utilized Aldefluor assay.
Buchman, Cameron D., Dria, Karl, Hurley, Thomas D., Morgan, Cynthia A., Parajuli, Bibek   +4 more
core   +1 more source

Genome-wide analyses identify common variants associated with macular telangiectasia type 2 [PDF]

, 2017
Idiopathic juxtafoveal retinal telangiectasis type 2 (macular telangiectasia type 2; MacTel) is a rare neurovascular degenerative retinal disease. To identify genetic susceptibility loci for MacTel, we performed a genome-wide association study (GWAS ...
A Bringmann, A Demirkan, A Kottgen, AC Barbosa, AC Len, AJ Mears, Anna Quaglieri, B Gold, B Howie, B Yu, BH Weber, C Giaume, C Toomes, Carolyn Cai, Catherine A Egan, CC Breugem, CC Chang, CW Carr, D Maiti, DA Bessant, EP Rhee, EY Chew, F Brancati, G Pare, G Tikellis, Global Lipids Genetics Consortium, GS Hageman, H Hao, I Eerola, I Eerola, J Bergeron-Sawitzke, J Raffler, J Raffler, J Yang, Jana Zernant, JB van Meurs, JD Cahoy, JDM Gass, JJ Chen, JR Black, JS Danik, K Mittelstrass, K Suhre, KT Oh, KZ Aung, L Bouchard, LA Lange, Lawrence A Yannuzzi, LC Kottyan, Lea Scheppke, LG Fritsche, LG Fritsche, Lisa Baird, LW Klomp, M Borenstein, M Henkemeyer, M Hong, M Sabater-Lleal, M Veiga-da-Cunha, M Zhao, M Zweier, Marcus Fruttiger, Mark Leppert, Martin Friedlander, MB Powner, MC Gillies, ME Kleber, ME Ritchie, Melanie Bahlo, MI Dorrell, MK Ikram, ML Summar, MR Metea, N Le Meur, N Revencu, N Siddiqui, NL Parmalee, NL Parmalee, Nori Matsunami, O Delaneau, P Artimo, Q Lin, Q Lin, R Klein, Rando Allikmets, RF Gariano, RJ Pruim, Roberto Bonelli, RS de Wijn, S Purcell, S Purcell, SH Chung, SH Lee, SR Hannan, SR Williams, SY Shin, T Illig, T Sing, T Watanabe, TD Gelehrter, TE Clemons, TE Clemons, Thomas S Scerri, TW Isaacs, U Menchini, V De Laurenzi, W Bi, W Wooderchak-Donahue, W Xie, WL Hutton, X Sim, Y Onishi, Y Usui, Z Xu   +113 more
core   +1 more source

Clinical Insights Regarding Oral Health Among Untreated and Positive Airway Pressure Treated Obstructive Sleep Apnea Patients

Journal of Sleep Research, EarlyView.
ABSTRACT Oral health‐related side effects are common in patients with both untreated and PAP‐treated OSA and can hinder adherence to PAP treatment. Despite extensive research on OSA and PAP, oral health experiences of PAP professionals remain unexplored.
K. Berggren, H. Ahonen, U. Lindmark, A. Broström, O. Sunnergren   +4 more
wiley   +1 more source

Association between hypovitaminosis D and systemic sclerosis: True or fake? [PDF]

, 2016
Background: Vitamin D insufficiency/deficiency is considered a major factor triggering and enhancing several autoimmune disorders; hypovitaminosis D has been reported to be common in Systemic Sclerosis (SSc).
AGNELLO, Luisa, BIVONA, Giulia, CIACCIO, Marcello, LO SASSO, Bruna, MILANO, Salvatore, PIVETTI, ALESSIA, SCAZZONE, Concetta   +6 more
core   +1 more source