Results 91 to 100 of about 36,716 (234)

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2128-2135, September 2026.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Lactic Acidosis Secondary to Metformin in a Patient Presenting with Acute Renal Failure due to Diarrhea: Case Report

Turkish Journal of Nephrology, 2019
Metformin is a biguanide used in the treatment of type 2 diabetic patients with normal renal function. Lactic acidosis is the most serious side effect of metformin. Renal failure is the most common cause of reduced lactate excretion.
Mustafa YAPRAK, Mehmet Nuri TURAN, Aygül ÇELTİK, Meltem SEZİŞ DEMİRCİ, Erhan TATAR, Arzu Nazlı ZEKA, Hüsnü PULLUKÇU, Mehmet ÖZKAHYA   +7 more
doaj  

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2140-2150, September 2026.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Elucidating the Molecular Mechanisms of Vitex negundo L. in Polycystic Ovary Syndrome via Metabolomics‐Driven Network Pharmacology

Biomedical Chromatography, Volume 40, Issue 9, September 2026.
ABSTRACT Polycystic ovary syndrome (PCOS) is a hormonal disorder marked by irregular menstrual cycles, elevated androgen levels, ovarian cysts, hirsutism, acne and other symptoms. While conventional medications such as Metformin and Spironolactone are commonly prescribed, they are often associated with undesirable side effects.
Nishmitha R. Poojary, Neeharika Narisepalli Venkatasai, Kannath U. Sanjay, Supraja M. Kodanch, Padmalatha S. Rai   +4 more
wiley   +1 more source

Thiamine deficiency-related myocardial dysfunction: A hidden cause of refractory lactic acidosis and shock in severe diabetic ketoacidosis: A case report

Journal of Pediatric Critical Care
Diabetic ketoacidosis (DKA) is a life-threatening complication of diabetes mellitus, characterized by hyperglycemia, ketosis, and metabolic acidosis. Severe dehydration and hypovolemic shock in severe DKA are common, but myocardial dysfunction and lactic
Sannarudrappa Sagar, Namita Ravikumar, B. M. Sunil Kumar, V. Subrahmanya Murti   +3 more
doaj   +1 more source

Potential Involvement of Redox and Inflammatory Signalling in the Antihyperglycemic and Antioxidant Effects of Harmaline in Male Mice With Type 2 Diabetes

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.
HAR may improve T2DM by enhancing antioxidant defences through Nrf2 activation while suppressing inflammation and RAS activity, supporting its capability to treat diabetes. ABSTRACT Introduction Type 2 diabetes mellitus (T2DM) is strongly associated with oxidative stress and inflammation.
Farima Malekinia, Akram Ahangarpour, Khojasteh Hoseinynejad, Seyyed Ali Mard, Maryam Radan, Fereshteh Nejaddehbashi   +5 more
wiley   +1 more source

Challenges in Managing Pregnancy in Patients With Fructose 1, 6‐Bisphosphatase Deficiency: A Single‐Centre Experience

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Fructose‐1,6‐bisphosphatase deficiency is a rare inherited metabolic disorder of gluconeogenesis characterized by recurrent hypoglycemia and lactic acidosis, typically triggered by inadequate glucose intake or increased consumption of fructose, sucrose, or sorbitol.
Raashda A. Sulaiman, Ibrahim Alqasir, Dana Alqasabi, Ruqaiah AlTassan, Maha Tulbah, Maha Alnemer, Mohamed Al‐Owain   +6 more
wiley   +1 more source

Medium Chain Acyl‐CoA Dehydrogenase Deficiency; an Unexpected Cause of Neonatal Ketoacidosis

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Medium‐chain acyl‐CoA dehydrogenase deficiency (MCADD) classically presents with hypoketotic hypoglycaemia; however, this presentation is now rare following the introduction of newborn screening. While children with MCADD may produce some ketones, severe ketoacidosis has not been previously described.
Nazreen Kamarus Jaman, Isaac Bernhardt, Sophie Ward, Freya Hassall, James Nurse, Hugh Lemonde, R. Neil Dalton, Michael Champion   +7 more
wiley   +1 more source

Nanoparticle‐Mediated Therapy for Glioma: Advances and Prospects

MedComm – Oncology, Volume 5, Issue 3, September 2026.
Various nanocarriers, including liposomes, dendrimers, exosomes and gold nanoparticles, are designed to penetrate the blood‐brain barrier and deliver chemotherapy, radiotherapy, immunotherapy, gene therapy, phototherapy, magnetic hyperthermia and sonodynamic therapy for glioma.
Wenqian Jiang, Jing Fei, Rangrang Fan, Haifeng Chen, Liangxue Zhou, Gang Guo   +5 more
wiley   +1 more source

Carbon Dots for Cancer Theranostics: Synthesis Strategies, Luminescence Properties, and Advances in Bioimaging‐Guided Diagnosis and Therapy

Chemistry – A European Journal, Volume 32, Issue 30, 13 August 2026.
Lighting up the path to precision oncology: This review comprehensively summarizes the rational design of carbon dots (CDs), elucidating how core size, surface chemistry, and heteroatom doping dictate their luminescence mechanisms. Special emphasis is placed on engineering NIR‐II emissive CDs for deep‐tissue imaging.
Zekun Yan, Yupeng Liu, Jinyun Tan, Songnan Qu   +3 more
wiley   +1 more source