Results 61 to 70 of about 79,003 (287)

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa, Kenjiro Kosaki, Toshiki Takenouchi   +2 more
wiley   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Metabolic Acidosis Due To Pyroglutamic Acid

European Journal of Case Reports in Internal Medicine, 2018
Metabolic acidosis is a common clinical disturbance due to increased plasma acidity caused by a primary decrease in serum HCO3- concentration. It is classified as normal or high anion gap metabolic acidosis.
Maria João Raposo Linhares Serpa, Luís Falcão, Susana Franco, Diana Repolho, Nuno Ribeiro Ferreira   +4 more
doaj   +1 more source

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

Emerging Strategies for Platelet‐Modified Nanoparticles in Targeted Tumor Therapy

Advanced NanoBiomed Research, EarlyView.
This review highlights innovative strategies using platelet‐modified nanoparticles to target tumors more precisely. By mimicking platelet functions, these biomimetic carriers improve tumor homing, enhance drug delivery, and reduce immune clearance.
Chunyu Bai, Lan Sun, Yimin Cui, Huan Meng, Jiulong Li, Qian Xiang   +5 more
wiley   +1 more source

High-anion gap hyperchloremic acidosis mimicking diabetic ketoacidosis on initial presentation – Case report

African Journal of Emergency Medicine, 2020
Introduction: Diabetic ketoacidosis (DKA) often becomes the primary focus and in turn masks a similar serious condition like hyperchloremic metabolic acidosis.
Esmail Sangey, Kishan Chudasama
doaj  

Hepatic gluconeogenesis and regulatory mechanisms in lactating ruminants: A literature review

Animal Research and One Health, EarlyView.
phosphoenolpyruvate carboxy kinase, FBP1, and glucose‐6‐phosphatase are key rate‐limiting enzymes that determine the efficiency of gluconeogenesis. The main substrate for gluconeogenesis in the liver of ruminants is propionate, which provides more than 60% of the carbon source for gluconeogenesis.
Guoyan Wang, Yuanyuan Zhu, Dingping Feng, Junhu Yao, Yangchun Cao, Lu Deng   +5 more
wiley   +1 more source

A case report of Paracetamol related pyroglutamic acidosis: mind the gap in a malnourished patient

BMC Nephrology
Background Pyroglutamic acidosis is a rare cause of high anion gap metabolic acidosis. Most cases of paracetamol related pyroglutamic acidosis are described in malnourished women and patients with kidney/liver failure, alcohol use or severe sepsis.
Rita Eid, Emmanuel Zamparini, Younes Ouchrif, Renaud Snanoudj, Chris Ottolenghi, Mohamad Zaidan   +5 more
doaj   +1 more source

Management of hypotension in dihydropyridine calcium channel blocker overdose: The role of high‐dose insulin therapy

British Journal of Clinical Pharmacology, EarlyView.
Aims Amlodipine poisoning is a leading cause of cardiovascular medication‐related deaths, commonly managed with high‐dose insulin (HDI) therapy. However, HDI is a vasodilator that is counterproductive in managing vasoplegia. We aim to study HDI therapy in patients with hypotension following dihydropyridine calcium channel antagonist (CCA) overdose ...
Betty S. H. Chan, Katherine Z. Isoardi, Darren M. Roberts, Ong Sook Har   +3 more
wiley   +1 more source

Lamivudine and tenofovir pharmacokinetic variability in people with HIV in Papua New Guinea

British Journal of Clinical Pharmacology, EarlyView.
Aims Demographics and kidney function contribute to variability in lamivudine and tenofovir drug concentrations. The aim was to assess, for the first time, the pharmacokinetic variability of lamivudine and tenofovir in Papua New Guinean (PNG) HIV/AIDS patients.
Natália Bordin Andriguetti, Daniel Thomas Barratt, Joseph Tucci, Paul Pumuye, Andrew Alexander Somogyi   +4 more
wiley   +1 more source