Results 81 to 90 of about 173,452 (291)

Late-onset thymidine kinase 2 deficiency: a review of 18 cases [PDF]

, 2019
BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion ...
Caballero Eraso, Candelaria, Domínguez González, Cristina, Fernández Torrón, Roberto, Fuiza Luces, Carmen, García García, Jorge M., Hernández Laín, Aurelio, Hernández Voth, Ana R., Paradas, Carmen, Rivas, Eloy, Sayas Catalán, Javier   +9 more
core   +1 more source

Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases

Advanced Science, EarlyView.
Mitochondrial transplantation (MTx) offers a promising therapeutic avenue for mitochondrial diseases. This review comprehensively evaluates MTx, differentiating its feasibility for mtDNA‐ and nDNA‐based disorders. It examines its potential for genetic correction, alongside inherent limitations, technical challenges, and crucial ethical considerations ...
Parmeshar Singh, Amir Tahavvori, Cyrus E. Kuschner, Blanca B. Espin, Jacob Kazmi, Sofhia V. Ramos, Tai Yin, Kei Hayashida, Kanako Ito‐Hagiwara, Yusuke Endo, Keitaro Yoshioka, Jun Hagiwara, Avijot Sohi, Alisha Oropallo, Ghania Haddad, Timmy Li, Lance B. Becker, Junhwan Kim   +17 more
wiley   +1 more source

Pharmacological strategies in lung cancer-induced cachexia: effects on muscle proteolysis, autophagy, structure, and weakness [PDF]

, 2014
Muscle wasting and cachexia are important systemic manifestations of highly prevalent conditions including cancer. Inflammation, oxidative stress, autophagy, ubiquitin-proteasome system, nuclear factor (NF)-kB, and mitogen activated protein kinases (MAPK)
Bal, Elisa Dora, Barreiro, Eshter, Chacon Cabrera, Alba, Diament, Miriam, Fermoselle, Clara, Mateu Jimenez, Mercè, Sandri, Marco, Urtreger, Alejandro Jorge   +7 more
core   +1 more source

Defect‐Rich 2D Layered Double Hydroxides Enhance Sonodynamic Antibacterial Therapy

Advanced Science, EarlyView.
This study develops defect‐rich ultrathin ZnCuW‐LDH nanosheets (DR‐ZnCuW‐LDH) via acid etching. DR‐ZnCuW‐LDH exhibits fourfold enhanced US‐triggered ROS production due to oxygen defects and electronic modulation, demonstrating potent antibacterial efficacy in vitro/vivo.
Qian Liu, Yu Yang, Rui Zhao, Linwei Huang, Xingyu Qi, Min Wu, Jianliang Shen   +6 more
wiley   +1 more source

The combinational effect of cardiac and biochemical markers in diabetic patients with cardiovascular disease [PDF]

, 2011
Background: Clinicopathological correlations, as well as several angiographic studies, suggest that diabetic patients have more extensive atherosclerotic disease, affecting the coronary arteries in particular.
Palanisamy Pasupathi, YY Rao, Farook J, Sathiyamoorthy Subramaniyam, Babu Shankar Ponnusha, Athimoolam Ambika, Int J Cur Bio Med Sci.
core  

Psoas Muscle Volume as a Predictor of Postoperative Complications in Patients Undergoing Emergency Surgery for Strangulated Small Bowel Obstruction: A Retrospective Single‐Center Study

Annals of Gastroenterological Surgery, EarlyView.
This retrospective study identified low preoperative psoas muscle volume, measured by computed tomography, as an independent predictor of postoperative complications in patients undergoing emergency surgery for strangulated small bowel obstruction. Low psoas muscle volume, particularly in older adults, was associated with cardiopulmonary and systemic ...
Takuya Shiraishi, Chika Katayama, Yuta Shibasaki, Chika Komine, Takuhisa Okada, Akihiko Sano, Makoto Sakai, Hiroomi Ogawa, Ken Shirabe, Hiroshi Saeki   +9 more
wiley   +1 more source

Creatine Kinase Activity and Malondialdehyde in the Seminal Plasma of Normospermic Infertile Males

مجلة كلية الطب, 2009
Background: Normospermia might be a major problem to the doctor and the infertile couple because the male seminal sample has an accepted seminal parameters during the routine seminal examination and the female partner will be claimed for the infertility ...
Ghassan T. Alani, Hedef D. El Yaseen
doaj   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Prognostic significance of right bundle branch block in patients with acute inferior myocardial infarction [PDF]

, 2009
There is little information available concerning the influence of right bundle branch block (RBBB) on the prognosis of patients with inferior myocardial infarction (MI).
Iwasaki, Jun, Katayama, Yusuke, Kono, Kunihisa, Osawa, Kazuhiro, Saito, Daiji, Shiraki, Teruo, Takahashi, Natsuki, Takeuchi, Kazufumi, Tanakaya, Machiko   +8 more
core   +1 more source

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