Results 121 to 130 of about 65,295 (252)

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1337-1346, June 2026.
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler, Bryce A. Schuler, Elizabeth A. Jasper, Janet Talbert, Laura Duncan, Mackenzie Mosera   +5 more
wiley   +1 more source

in vitro activation of complement and contact system by lactic acidosis

Mediators of Inflammation, 1998
The activation of complement and contact systems occurs in reperfusion injuries with initial tissue hypoxia, and lactic acidosis such as mycardial infarction and birth asphyxia.
J. Sonntag, M. Emeis, E. Strauss, M. Obladen   +3 more
doaj   +1 more source

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

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1192-1203, June 2026.
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

Metformin as a Multifaceted Therapeutic Agent for Gastrointestinal Diseases: Mechanisms, Clinical Efficacy, and Future Directions

Pharmacology Research &Perspectives, Volume 14, Issue 3, June 2026.
ABSTRACT The high prevalence of gastrointestinal (GI) diseases and their significant impact on the quality of life require new therapeutic strategies. The development of novel therapeutic strategies should prioritize targeting the fundamental pathophysiological mechanisms underlying these diseases, including inflammation, cellular proliferation, and ...
Sayedeh Azimeh Hosseini, Hassan Valadbeigi, Seyedeh Mahdieh Khoshnazar, Saeed Khoshnood, Shahab Falahi, Delsuz Rezaee, Ali Hematian, Mohammad Hossein Haddadi   +7 more
wiley   +1 more source

In Vitro Fermentation Characteristics and Rumen Microbial Population of Diet Supplemented with Saccharomyces Cerevisiae and Rumen Microbe Probiotics [PDF]

, 2016
The objective of this study was to select three strains of probiotic Saccharomyces cerevisiae and to evaluate the effect of S. cerevisiae and rumen bacteria isolate (MR4) supplementation and their combination on rumen fermentability and rumen microbial ...
Evvyernie, D. (Dwierra), Riyanti, L. (Lilis), Suryahadi, S. (Suryahadi)   +2 more
core  

Metformin promotes mitochondrial integrity through AMPK‐signaling in Leber's hereditary optic neuropathy

FEBS Open Bio, Volume 16, Issue 5, Page 885-905, May 2026.
Metformin mediates mitochondrial quality control in Leber's hereditary optic neuropathy (LHON) fibroblasts carrying mtDNA mutations. At therapeutic levels, metformin activates AMPK signaling to restore mitochondrial dynamics by promoting fusion and restraining fission, while preserving mitochondrial mass, enhancing autophagy/mitophagy and biogenesis ...
Chatnapa Panusatid, Rapasviranda Soiyangsuk, Maneeluck Tanadjindarat, Chayanon Peerapittayamongkol   +3 more
wiley   +1 more source

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

Annals of Neurology, Volume 99, Issue 5, Page 1263-1276, May 2026.
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

Rare Manifestation of Sjogren's Syndrome: Renal Tubular Acidosis‐Induced Hypokalemic Paralysis—A Case Report

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Sjogren's syndrome (SS) is an autoimmune disorder characterized by inflammation of exocrine glands, often presenting with symptoms such as dry eyes and mouth. Although less common, renal involvement can lead to serious complications like hypokalemic paralysis.
Premendra Vimal, Dhiraj Chaurasia, Dipesh Jha, Raj Adhikari   +3 more
wiley   +1 more source

BMQ [PDF]

, 1958
BMQ: Boston Medical Quarterly was published from 1950-1966 by the Boston University School of Medicine and the Massachusetts Memorial ...
Bakst, Henry J., Berry, Joseph, Bonnet, Philip D., Bradford, Martin L., Curran, William J., Emerson, Charles P., Greer, William E. R., Huckabee, William E., Hutt, Michael S. R., Keefer, Chester S., Laforet, Eugene G., Lemon, Henry M., O'Brien, Gerald F., Relman, Arnold S., Soutter, Lamar, Street, Russell B., Jr., Waye, Jerome D.   +16 more
core  

Survival and Clinical Progression in Barth Syndrome: Insights From the Barth Syndrome Foundation's Database of 502 Affected Individuals

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Barth syndrome (BTHS; OMIM 302060) is an ultra‐rare, life‐limiting genetic disorder characterized by cardiomyopathy, skeletal muscle myopathy, neutropenia, gastrointestinal issues, and fatigue. Formal analyses of survival and clinical progression remain limited.
Kexin Fu, Yonglin Huang, Valerie Bowen, Katherine McCurdy, Reina B. Tan, Colin K. L. Phoon, Lindsay Marjoram, Alex Dahlen   +7 more
wiley   +1 more source