Results 121 to 130 of about 119,685 (338)

Association between Human Leukocyte Antigen Alleles and Neuropathological Outcomes in Lewy Body Disease

Annals of Neurology, EarlyView.
Objective Lewy body disease (LBD) is a complex neurodegenerative disorder characterized by the accumulation of misfolded α‐synuclein in the brain. Neuroinflammation has long been implicated in LBD pathogenesis, and recent genetic studies in Parkinson's disease (a clinical manifestation of LBD) have shown consistent association with the human leukocyte ...
Marios Gavrielatos, Michael G. Heckman, Alexandra I. Soto‐Beasley, Sophia G. Blumenfeld, Xu Hou, Shunsuke Koga, Melissa E. Murray, Koji Kasanuki, Daisuke Ono, Fabienne C. Fiesel, Ryan J. Uitti, Julie A. Fields, Hugo Botha, Vijay K. Ramanan, Kejal Kantarci, Val J. Lowe, Clifford R. Jack, Nilufer Ertekin‐Taner, J. Raphael Gibbs, Bryan J. Traynor, Clifton L. Dalgard, Rodolfo Savica, Jonathan Graff‐Radford, Ronald C. Petersen, R. Ross Reichard, Neill R. Graff‐Radford, Tanis J. Ferman, Bradley F. Boeve, Zbigniew K. Wszolek, Wolfdieter Springer, Ziv Gan‐Or, Emmanuel Mignot, Sonja W. Scholz, Dennis W. Dickson, Owen A. Ross   +34 more
wiley   +1 more source

A novel animal model to explore the whole-organism response to 21-hydroxylase deficiency [PDF]

, 2015
Andreas Zaucker, Tülay Güran, Nazia Thakur, Angela M. Taylor, Aliesha Griffin, Nils Krone   +5 more
openalex   +1 more source

Adrenal Crisis [PDF]

, 2019
Glucocorticoid replacement therapy, available since the 1950s, has prolonged the survival of patients with adrenal insufficiency. However, adrenal crises, which are life-threatening medical emergencies, still develop in many affected patients.
Falhammar, Henrik, Rushworth, R Louise, Torpy, David J   +2 more
core   +1 more source

Polymorphism of the tumor necrosis factor beta gene in systemic lupus erythematosus [PDF]

, 1993
We investigated the Nco I restriction fragment length polymorphism (RFLP) of the tumor necrosis factor beta (TNFB) gene in 173 patients with systemic lupus erythematosus (SLE), 192 unrelated healthy controls, and eleven panel families, all of German ...
Albert, E. D., Bettinotti, M. P., Deicher, H., Hartung, K., Keller, E., Messer, Gerald, Weiss, Elisabeth H.   +6 more
core   +1 more source

Late consequences of classic congenital adrenal hyperplasia and its long-term poor control in men (case report and literature review)

Ожирение и метаболизм, 2019
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disorder of the adrenal cortex characterized by impairment of cortisol biosynthesis (with possible impairment of aldosterone biosynthesis) and ...
Boris M. Shifman, Larisa K. Dzeranova, Ekaterina A. Pigarova, Anatoly N. Tiulpakov, Natalia S. Fedorova   +4 more
doaj   +1 more source

Overview of Encapsulated Lysine and Methionine and Their Impacts on Transition Cow Performance and Health

Animal Research and One Health, EarlyView.
The transition period in dairy cows, spanning 3 weeks before and after calving, is a critical phase characterized by increased nutrient demands, reduced dry matter intake (DMI), and elevated risk of metabolic disorders such as negative nutrient balance (NNB), lipolysis, proteolysis, and oxidative stress.
Mohammed S. Seleem, Samy A. Elsaadawy, Zhaohai Wu, Lu Ma, Todd R. Callaway, Dengpan Bu   +5 more
wiley   +1 more source

A case of combined 21‐hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism

Molecular Genetics & Genomic Medicine, 2019
Background 21‐hydroxylase deficiency (21‐OHD) is caused due to CYP21A2 gene variant. In males, the excess androgens produce varying degrees of penile enlargement and small testes. CHARGE syndrome (CS) has a broad spectrum of symptoms.
Satoko Umino, Miyuki Kitamura, Yuko Katoh‐Fukui, Maki Fukami, Takeshi Usui, Shuichi Yatsuga, Yasutoshi Koga   +6 more
doaj   +1 more source

Recurrent haematuria; a rare presentation of 46XX Congenital adrenal hyperplasia presenting late and reared as males – two cases

Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2019
Congenital adrenal hyperplasia (CAH) is a group of inherited autosomal recessive disorders characterized by a defect in enzymes involved in biosynthesis of cortisol, aldosterone or both. We report two patients presented with recurrent haematuria with two
D. Karuppiah, P. Pathirana, S. Dilakkumar, A. S. Pallewatte, M. Pravinson, M. Mithusha   +5 more
doaj   +1 more source

3 ADRENAL IMAGE STUDIES IN PATIENTS WITH CONGENITAL ADRENAL HYPERLASIA DUE TO 21-HYDROXYLASE DEFICIENCY [PDF]

, 1994
Tânia A.S.S. Bachega, J Mattielli, Guilherme Madureira, C.A. Suslik, G.C. Gomes, E Secaf, W Bloise, I J P Arnhold, Berenice B. Mendonça   +8 more
openalex   +1 more source

GADA titer-related risk for organ-specific autoimmunity in LADA subjects subdivided according to gender (NIRAD study 6). [PDF]

, 2012
CONTEXT: Latent autoimmune diabetes in adults (LADA) includes a heterogeneous population wherein, based on glutamic acid decarboxylase antibody (GADA) titer, different subgroups of subjects can be identified.
Bosi, E, Buzzetti, Raffaella, Campagna, Giuseppe, Capizzi, Marco, Cipolloni, L, Falorni, A, Leto, G, Morano, Susanna, NIRAD Study, Group, Spoletini, MARIA LUISA, Tiberti, Claudio, Zampetti, Simona   +11 more
core   +1 more source