Results 61 to 70 of about 38,522 (353)

Efficacy and Safety of ABBV‐154 for the Treatment of Active Rheumatoid Arthritis: A Phase 2b, Randomized, Placebo‐Controlled Trial

Arthritis &Rheumatology, Accepted Article.
Objective Despite availability of biologics and targeted synthetic disease‐modifying antirheumatic drugs (b/tsDMARDs) to treat rheumatoid arthritis (RA), many patients do not experience optimized disease control. Glucocorticoids are effective but have safety risks.
Frank Buttgereit, Atul Singhal, Alan Kivitz, Edit Drescher, Yoshinori Taniguchi, Rosalía Martínez Pérez, Jaclyn Anderson, Ronilda D'Cunha, Weihan Zhao, Nicholas DeVogel, Julie Parmentier, Romy Christmann, Dilek Arikan, Howard Amital   +13 more
wiley   +1 more source

Treatment of inborn errors of metabolism [PDF]

Molecular Cytogenetics, 2014
Inborn errors of metabolism (IEM), though individually rare are collectively common. Average incidence of 50+ common IEMs is considered to be approx 1 in 1,000 live births. With annual birth rate of approximately 25 million babies in India, we can expect at least 25,000 babies being born with IEM in India and hence it is a significant burden to the ...
openaire   +3 more sources

The neuropsychiatry of inborn errors of metabolism [PDF]

Journal of Inherited Metabolic Disease, 2013
AbstractA number of metabolic disorders that affect the central nervous system can present in childhood, adolescence or adulthood as a phenocopy of a major psychiatric syndrome such as psychosis, depression, anxiety or mania. An understanding and awareness of secondary syndromes in metabolic disorders is of great importance as it can lead to the early ...
Ramon Mocellin, Ramon Mocellin, Mark Walterfang, Olivier Bonnot, Dennis Velakoulis, Dennis Velakoulis   +5 more
openaire   +4 more sources

Serum cytokine profiling differentiates underlying diseases in cytokine storm syndrome

Arthritis &Rheumatology, Accepted Article.
Objective Cytokine storm syndrome (CSS), commonly associated with hemophagocytic lymphohistiocytosis (HLH), is a fatal hyperinflammatory syndrome. Differentiating the underlying diseases responsible for CSS is essential for timely therapeutic decisions. This study explored the clinical usefulness of serum cytokine profiling in distinguishing underlying
Shuya Kaneko, Maho Hatano, Asami Shimbo, Futaba Miyaoka, Hitoshi Irabu, Yuko Akutsu, Yuko Hayashi, Mao Mizuta, Yasuo Nakagishi, Keiji Akamine, Naomi Iwata, Kenji Furuno, Takayuki Tanaka, Kazuyuki Ueno, Shuhei Fujita, Koji Yokoyama, Toshinori Minato, Kazushi Izawa, Takahiro Yasumi, Tadashi Matsubayashi, Tadashi Hosoya, Hiroki Nishikawa, Junya Fujimura, Ryoko Asano, Yuko Sugita, Kenichi Watanabe, Anna Kobayashi, Takuya Endo, Katsuhide Eguchi, Ryuta Nishikomori, Ryuhei Yasuoka, Takaki Asano, Miyako Kanno, Kazuya Hamada, Yuji Fujita, Daisuke Hayashi, Shojiro Watanabe, Takeshi Shiba, Shinsuke Yasuda, Masaaki Mori, Hirokazu Kanegane, Masatoshi Takagi, Masaki Shimizu   +42 more
wiley   +1 more source

The incidence of portal vein thrombosis at liver transplantation [PDF]

, 1992
The incidence of portal vein thrombosis was examined in 885 patients who received orthotopic liver transplantations for various end‐stage liver diseases between 1989 and 1990. The thrombosis was classified into four grades.
Iwatsuki, S, Nonami, T, Starzl, TE, Yokoyama, I   +3 more
core   +1 more source

Defective Ribosome Recycling: A Bridge Between Translation Fidelity, Organelle Dysfunction, and Diseases

BioEssays, EarlyView.
The Role of Ribosome Recycling in Human Diseases This diagram highlights how disruptions in ribosome translation and recycling can negatively impact cellular and organismal health. Usually, these processes operate efficiently to maintain cellular protein homeostasis.
Foozhan Tahmasebinia, Zhihao Wu
wiley   +1 more source

Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of Pará

Molecular Genetics & Genomic Medicine, 2023
Background Phenylketonuria (PKU) is an autosomal recessive disease resulting from a deficiency of the enzyme phenylalanine hydroxylase (PAH). Hyperphenylalaninemias (HPA) due to PAH deficiency are accompanied by a wide variety of clinical, biochemical ...
Pedro E. Bonfim‐Freitas, Roseani S. Andrade, Ândrea K. Ribeiro‐dos‐Santos, Luiz C. Santana‐da Silva   +3 more
doaj   +1 more source

Orotic Aciduria [PDF]

, 2018
Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core   +1 more source

Increased Extra‐Axial Cerebrospinal Fluid Volume in Children With Angelman Syndrome: Links to Sleep Problems and Seizures

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Previous studies demonstrated that children with autism have enlarged volumes of extra‐axial cerebrospinal fluid (EA‐CSF) and an increased ratio of EA‐CSF to brain volume, indicating that EA‐CSF is disproportionally increased beyond macrocephaly often observed in autism.
Zumin Chen, Dea Garic, Yinuo Xu, Rachel G. Smith, Leigh Anne H. Weisenfeld, Sun Hyung Kim, Martin A. Styner, Joseph Piven, Benjamin D. Philpot, Heather C. Hazlett, Mark D. Shen   +10 more
wiley   +1 more source

INBORN ERRORS OF METABOLISM

Nutrition Reviews, 2009
Abstract Understanding metabolic disease can be difficult in its own right. Under stressful situations such as those involving a sick infant, it becomes much more difficult. This resource is a talk whose purpose is to provide a simple framework with which to expeditiously diagnose a sick child who has a metabolic disorder.
openaire   +5 more sources