Results 41 to 50 of about 3,705 (210)

Acute Intermittent Porphyria With Epilepsy as the Initial Symptom and Posterior Reversible Encephalopathy Syndrome: A Case Report. [PDF]

Case Rep Neurol Med
Acute intermittent porphyria (AIP) is a rare hereditary metabolic disorder, manifesting in a series of neuropsychiatric symptoms and abdominal pain. Posterior reversible encephalopathy syndrome (PRES) is also an uncommon clinical syndrome characterized by localized cerebral edema in the posterior part of the brain, accompanied by abnormal signal ...
Li W, Lian ZY, Mi XJ, Tang J.
europepmc   +2 more sources

Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic <i>HMBS</i> Variants: A Case Report. [PDF]

JIMD Rep
ABSTRACT Leukodystrophy due to biallelic HMBS variants is a rare condition distinct from acute intermittent porphyria (AIP). It is characterised by progressive leukoencephalopathy rather than acute attacks of neurovisceral symptoms. We report the ongoing clinical progression of a patient with leukodystrophy due to homozygous variants in HMBS [c.251C>A,
Clark J, Smith J, Leong Y, Cronin V, Winship I, Ross G, Fazio T.   +6 more
europepmc   +2 more sources

Identification of stable reference genes for quantitative gene expression analysis in the duodenum of meat-type ducks

Frontiers in Veterinary Science, 2023
Quantitative polymerase chain reaction (qPCR) is an important method to detect gene expression at the molecular level. The selection of appropriate housekeeping genes is the key to accurately calculating the expression level of target genes and ...
Fei Shui, Fei Shui, Guiru Qiu, Shenqiang Pan, Xin Wang, Xin Wang, Fumin Jia, Fumin Jia, Tingting Jiang, Yongsheng Li, Zhaoyu Geng, Zhaoyu Geng, Sihua Jin, Sihua Jin   +13 more
doaj   +1 more source

Acute Hepatic Porphyrias: Review and Recent Progress. [PDF]

, 2019
The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms.
Andant, Anderson, Andersson, Badawy, Balwani, Bissell, Bissell, Bloomer, Bonkovsky, Bonkovsky, Bonkovsky, Bonkovsky, Bonkowsky, Bonkowsky, Bonkowsky, Bylesjo, Chen, D’Avola, Ferrer, Glueck, Handschin, Jeans, Lambrecht, Lane, Marsden, McGuire, Pallet, Sardh, Sardh, Shen, Singal, Stein, Stewart, Tchernitchko, Wahlin, Watson, Watson, Willandt, Wu, Yarra, Yasuda   +40 more
core   +1 more source

ADAR1 mRNA quantification for predicting HSIL in persons with HIV and abnormal anal cytology. [PDF]

Int J Cancer
What's new? This study introduces ADAR1 mRNA quantification as a promising biomarker for improving high‐grade squamous intraepithelial lesion (HSIL) prediction in HIV‐positive individuals with abnormal anal cytology. With 92% specificity, it reduces unnecessary high‐resolution anoscopies (HRA) by 77%, offering a more efficient and targeted screening ...
Bello-Perez M, Mascarell P, Fernández-González M, García JA, de la Tabla AG, Ledesma C, De la Rica A, Galiana A, López L, Ocete MD, Salvador C, Gimeno C, García-Abellán J, Padilla S, Gutiérrez F, Masiá M.   +15 more
europepmc   +2 more sources

The effect of cigarette smoke exposure on the development of inflammation in lungs, gut and joints of TNFΔARE mice [PDF]

, 2015
The inflammatory cytokine TNF-alpha is a central mediator in many immune-mediated diseases, such as Crohn's disease (CD), spondyloarthritis (SpA) and chronic obstructive pulmonary disease (COPD).
A Churg, A I D'Hulst, A I D'Hulst, A Oberholzer, AN Ananthakrishnan, B Chassaing, BR Vuillemenot, C Ott, Claude A. Cuvelier, D Kontoyiannis, D Kontoyiannis, D Laukens, D Laukens, D Poddubnyy, D Poddubnyy, D Raddatz, D Wendling, Debby Laukens, Dirk Elewaut, E Perry, EM Thomson, G Kollias, G Macdonald, Griet Conickx, Guy F. Joos, Guy G. Brusselle, H Roberts, HS Hreggvidsdottir, J Bagaitkar, J Callhoff, J George, J Karczewski, JC Peng, JJ Peschon, K Chang, K Vermaelen, KA Papadakis, Karlijn Debusschere, Ken R. Bracke, KR Bracke, L Allais, L Arcavi, L Klareskog, Liesbeth Allais, LK Lundblad, LL Dupont, M De Vos, M Montbarbon, Martine De Vos, MF Neurath, P Jacques, P Jacques, P Vassalli, PG Persson, R Matsuda, R Vlahos, R Vlahos, Rebecca De Smet, S Mukhopadhyay, S Suissa, S Tangedal, S Verschuere, S Verschuere, Selvakumar Subbian, SK Biswas, Smitha Kumar, Stephanie Verschuere, Tania Maes, W Strober, Y Arnson   +69 more
core   +8 more sources

Identification of stable endogenous reference genes for real-time PCR in the human fetal gonad using an external standard technique [PDF]

, 2011
Peer ...
Ana Monteiro, Andersen, Baker, Bower, Ellefsen, Huggett, Johnson, O'Shaughnessy, O'Shaughnessy, Paul A. Fowler, Peter J. O'Shaughnessy, Rajapaksha, Smith, Vandesompele   +13 more
core   +1 more source

Mortality in Pedigrees with Acute Intermittent Porphyria

Life, 2022
High mortality rates have been reported in historical cohorts of acute intermittent porphyria (AIP) patients. The mortality associated with (hydroxymethylbilane synthase) HMBS variant heterozygosity is unknown. This study estimates all-cause mortality in
Rochus Neeleman, Kyra Musters, Margreet Wagenmakers, Sophie Mijnhout, Edith Friesema, Eric Sijbrands, Janneke Langendonk   +6 more
doaj   +1 more source

Utilization of the Cepheid Xpert® CT/NG Sample Adequacy Control to Determine the Influence of the Urethral Swab on Cellular Content in Post-Swab versus Pre-Swab Urine [PDF]

, 2017
Chlamydia trachomatis/Neisseria gonorrhoeae assay performance in males is typically determined using post-swab urine, though pre-swab urine is used in practice.
Hook, Edward W., III, Jordan, Stephen J., Van Der Pol, Barbara   +2 more
core   +1 more source

Metabolic and molecular events occurring during chromoplast biogenesis [PDF]

, 2011
Chromoplasts are nonphotosynthetic plastids that accumulate carotenoids. They derive from other plastid forms, mostly chloroplasts. The biochemical events responsible for the interconversion of one plastid form into another are poorly documented. However,
Barsan, Cristina, Bian, Wanping, Bouzayen, Mondher, Chervin, Christian, Egea, Isabel, Latché, Alain, Pech, Jean-Claude, Purgatto, Eduardo, Zouine, Mohamed   +8 more
core   +4 more sources