Results 81 to 90 of about 3,294,575 (284)

Hyperammonemia: What Urea-lly Need to Know: Case Report of Severe Noncirrhotic Hyperammonemic Encephalopathy and Review of the Literature

Case Reports in Medicine, 2016
Purpose. A 66-year-old man who presented with coma was found to have isolated severe hyperammonemia and diagnosed with a late-onset urea-cycle disorder. He was treated successfully and had full recovery. Methods.
Ruby Upadhyay, Thomas P. Bleck, Katharina M. Busl   +2 more
doaj   +1 more source

Citrullinemia with an atypical presentation: Paroxysmal hypoventilation attacks

Journal of Pediatric Neurosciences, 2018
Citrullinemia type 1 (CTLN1) is a rare inherited urea cycle disorder, which resulted from the deficiency of argininosuccinate synthetase enzyme. We presented an infant who was hospitalized because of acute losses of tonus and cyanotic hypoventilation ...
Zeynep Öztürk, Tuğba Hirfanoğlu, Aslı İnci, İlyas Okur, Esin Koç, Leyla Tümer, Ebru Arhan, Kürşad Aydın, Ayşe Serdaroğlu   +8 more
doaj   +1 more source

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio‐based Whole‐Exome Sequencing

Advanced Science, EarlyView.
A rare de novo IFT122‐A773E variant is identified in idiopathic pediatric uveitis and shown to exacerbate retinal inflammation and barrier dysfunction. Mechanistically, the variant enhances IFT43 interaction, elevates calcium signaling, and activates the MEK/ERK/FRA1 axis, revealing a previously unrecognized cilia‐associated pathway that may increase ...
Qian Zhou, Jiaxing Huang, Yilin Wang, Xingran Li, Xianyang Liu, Lingyu Dai, Hongshun Li, Qingfeng Wang, Jiangyi Liu, Guannan Su, Wanyun Zhang, Yang Deng, Qingfeng Cao, Yujie Lai, Xiang Luo, Changwei Huang, Ling Chen, Shengping Hou, Peizeng Yang   +18 more
wiley   +1 more source

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

BMC Research Notes, 2010
Background Argininosuccinic aciduria (ASAuria) is an autosomal recessive disorder of the urea cycle relatively common in Saudi Arabia as a consequence of extensive consanguinity.
Rashed Mohamed S, Alsmadi Osama, Al-Mubarak Bashair R, Trabzuni Danyah, Al-Sayed Moeen, Imtiaz Faiqa, Meyer Brian F   +6 more
doaj   +1 more source

Role of urea and methylamines in buoyancy of elasmobranchs [PDF]

, 1994
The possible role of urea and trimethylamine oxide (TMAO) in providing positive buoyancy has been examined for elasmobranch fishes. TMAO has a considerably lower density than an equimolar solution of urea, and solutions of both TMAO and urea are ...
Withers, P, Hefter, G., Pang, T.
core  

A Decoy‐Receptor‐Armed Biomimetic Nanotherapeutic With Inherent Tropism for Conserved Pathogenic Macrophages for Treating Osteoarthritis and Intervertebral Disc Degeneration

Advanced Science, EarlyView.
A biomimetic doppelgänger nanosystem neutralizes extracellular inflammatory cytokines and silences intracellular pyroptosis, reprogramming pathogenic macrophages to attenuate both joint and spine degeneration. ABSTRACT Osteoarthritis (OA) and intervertebral disc degeneration (IVDD) are debilitating musculoskeletal disorders driven by shared ...
Fudong Li, Bin Zhang, Zhiqiu Zhang, Bing Zheng, Linhui Han, Chen Yan, Jialin Li, Kaiqiang Sun, Tianyi Zhao, Jiangang Shi   +9 more
wiley   +1 more source

Increased metabolites of ornithine/citrulline metabolism in SAMS cases are consistent with impaired urea cycle pathway.

, 2023
Arrows indicate increased expression of specific urea cycle intermediates.
Claire L. Simpson (14951490), Joy Guingab (542835), Timothy J. Garrett (7418819), Gregory Farage (11013878), Rajendra Raghow (4330738), Saunak Sen (156466), Michelle A. Puchowicz (1991425), Logan M. Buchanan (17655859), Marshall B. Elam (4330747), Richard Childress (17655853), Elizabeth C. Brogdon (17655856), Edwards A. Park (17655850), Qingming Dong (5734967)   +12 more
core   +1 more source

Dual‐Targeting Biomimetic Nanozymes Loaded Microneedle Patch Promotes Scarless Wound Healing Through Anti‐Inflammatory and Anti‐Fibrotic Effects

Advanced Science, EarlyView.
This study developed a dual‐targeting biomimetic nanozyme hybrid system (Cu‐CeO2@ABs‐FTP) and integrated it with HAMA hydrogel to fabricate a microneedle patch (CAF@MN). The patch promotes fibroblast‐mediated wound repair, targets macrophages to induce M2 polarization, and targets myofibroblasts to exert anti‐fibrotic effects, thereby enabling rapid ...
Hongyi Zhang, Jinwei Li, Shan Hua, Shengming Wu, Chenlong He, Yuan Zhu, Ming Yin, Han Zhou, Huawei Liu, Chika Hasegawa, Jun Lyu, Keyue Xiao, Hua Jiang, Yilong Wang, Yuxin Qian   +14 more
wiley   +1 more source

Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report

Journal of Medical Case Reports, 2018
Background Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a rare inherited urea cycle disorder, can remain undiagnosed for decades and suddenly turn into an acute life-threatening state.
Thomas Silfverberg, Fredrik Sahlander, Magnus Enlund, Mikael Oscarson, Maria Hårdstedt   +4 more
doaj   +1 more source

Role of ureolytic activity in Bacillus cereus nitrogen metabolism and acid survival [PDF]

, 2008
The presence and activities of urease genes were investigated in 49 clinical, food, and environmental Bacillus cereus isolates. Ten strains were shown to have urease genes, with eight of these strains showing growth on urea as the sole nitrogen source ...
Abee, T., Mols, J.M.
core   +1 more source