Results 51 to 60 of about 35,500 (218)

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Severe, Non‐apneic Respiratory Dysfunction and Hypoxia following Generalized Convulsive Seizures

Annals of Neurology, EarlyView.
Objective Sudden unexpected death in epilepsy (SUDEP) is a devastating consequence of some generalized convulsive seizures (GCS). Recent work has focused on seizure related apnea as a biomarker of SUDEP risk, frequently without characterizing the adequacy of non‐apneic ventilation or identifying other dysfunctional breathing patterns.
Haley E. Pysick, Rup K. Sainju, Roshni Nair, Deidre N. Dragon, Eduardo Bravo, Laura Vilella, Xiaojin Li, Samden D. Lhatoo, George B. Richerson, Brian K. Gehlbach   +9 more
wiley   +1 more source

Alkali Therapy in Lactic Acidosis

Marshall Journal of Medicine, 2015
This report attempts to frame the debate about clinical administration of sodium bicarbonate in the setting of lactic acidosis in terms of simple questions.
Zeid J. Khitan, Deepak Malhotra, Dominic S. Raj, Antonios H. Tzamaloukas, Joseph I. Shapiro   +4 more
doaj   +1 more source

Reversible acute blindness in suspected metformin-associated lactic acidosis: a case report

Journal of Medical Case Reports, 2023
Background Metformin is commonly used for the treatment of type 2 diabetes mellitus. Its multiple advantages include low risk of hypoglycemia, weight neutrality, low cost, and cardioprotective and anti-inflammatory effects.
Rui Huang, Wentao Sun
doaj   +1 more source

Efficacy and safety of empagliflozin for treating neutropenia and neutrophil dysfunction in paediatric patients with glycogen storage disease type Ib: A systematic review and meta‐analysis

British Journal of Clinical Pharmacology, EarlyView.
Aims Glycogen storage disease type Ib (GSD‐Ib) is a rare genetic disorder causing neutropenia and neutrophil dysfunction in children. G‐CSF has been the primary treatment, but emerging data support the potential of empagliflozin, an SGLT2 inhibitor, as a promising investigational option.
Elizabeth Iwasyk, Ryan Jin, Fabio Tuzzolino, Giusy Ranucci, Donatella Madonia, Alessio Provenzani   +5 more
wiley   +1 more source

Biomaterial design strategies for enhancing mitochondrial transplantation therapy

BMEMat, EarlyView.
Biomaterials to facilitate mitochondrial transplantation therapy: biomaterials as barriers to protect mitochondria from pathophysiological microenvironments, like osmotic stress caused by the excessive concentration of calcium ion, reactive oxygen species, and advanced glycation end products; biomaterials integrating with biochemical cues to improve ...
Shaoyang Kang, Yushan Zhang, Hang Li, Sirui Peng, Donghao Lyu, Chunxiao Zhou, Sheng Ding, Zujian Feng, Pingsheng Huang, Chuangnian Zhang, Hongjun Wang, Deling Kong, Weiwei Wang   +12 more
wiley   +1 more source

The effect of blood storage age on treatment of lactic acidosis by transfusion in children with severe malarial anaemia: a pilot, randomized, controlled trial

Malaria Journal, 2013
Background Severe malarial anaemia requiring blood transfusion is a life-threatening condition affecting millions of children in sub-Saharan Africa. Up to 40% of children with severe malarial anaemia have associated lactic acidosis.
Dhabangi Aggrey, Mworozi Edison, Lubega Irene R, Cserti-Gazdewich Christine M, Maganda Albert, Dzik Walter H   +5 more
doaj   +1 more source

Nanomaterials‐mediated glycolysis rewriting to potentiate tumor immunotherapy

BMEMat, EarlyView.
This review systematically summarizes cutting‐edge advances in glycolysis‐rewiring nanomedicines, emphasizing their mechanisms in reversing immunosuppression and reinvigorating antitumor immune responses. Challenges in clinical translation and future directions for designing multifunctional metabolic‐immune modulators are also critically discussed ...
Zilin Ma, Songyan Li, Jie Yan, Xuechun Wang, Wen Zhao, Yunxuan Song, Dongdong Liu, Jianwei Jiao, Xiuying Duan, Guiqiang Zhang   +9 more
wiley   +1 more source

ACUTE KIDNEY INJURY DUE TO METFORMIN-ASSOCIATED LACTIC ACIDOSIS [PDF]

Journal of IMAB
Introduction: Acute kidney injury is a clinical syndrome of rapid decline of renal function due to various causes and often occurs by more than one pathophysiological mechanism.
Svilena Aleksandrova, Stela Linkova, Yulia Benovska, Biser Borisov   +3 more
doaj   +1 more source

One‐Step and Universal Strategy for the Synthesis of Hypermodified Uracil Phosphoramidites acp3U and cmnm5U

Chemistry – A European Journal, EarlyView.
One‐step, highly efficient, and scalable synthesis of acp3U phosphoramidite is described, as well as a new alternative synthesis of cmnm5U phosphoramidite from a highly versatile intermediate. Latter could be scaled‐up, split, and aliquots turned simultaneously into cmnm5U, nm5U, and mnm5U.
Ewa Mejdr, Lena Heinickel, Thomas Carell, Ivana Mejdr   +3 more
wiley   +1 more source