Results 31 to 40 of about 164 (88)

Vascular Effects of the Fetal Hemoglobin Inducer Agent 3-(1,3-Dioxoisoindolin-2-yl) Benzyl Nitrate

Pharmaceuticals, 2022
Vascular endothelium is a protective layer of cells lining the lumen of blood vessels that plays important roles by releasing factors responsible for controlling the vascular tone, regulating the expression of pro-inflammatory cytokines, and expressing ...
Barbara Terroni, Luis Henrique Oliveira de Moraes, Aline Renata Pavan, Gerson Jhonatan Rodrigues, Jean Leandro Dos Santos   +4 more
doaj   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Vasoplegic syndrome in patients undergoing heart transplantation

Frontiers in Surgery, 2023
ObjectivesTo summarize the risk factors, onset time, and treatment of vasoplegic syndrome in patients undergoing heart transplantation.MethodsThe PubMed, OVID, CNKI, VIP, and WANFANG databases were searched using the terms “vasoplegic syndrome ...
Tong-xin Qin, Yun-tai Yao, the Evidence in Cardiovascular Anesthesia(EICA) Group   +2 more
doaj   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Methionine Synthase Interacts With the Methionine Adenosyl‐Transferase MATα2 and the DNA Methyltransferase DNMT3b in the Nucleus

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
This study shows that methionine synthase (MS) interacts with MATα2, responsible for SAM production, and the methyltransferase DNMT3b in the nucleus. These results support the idea that spatial compartmentalization of one‐carbon metabolism could play a major role in regulating the epigenome.
Manon Jeandel, Jean‐Marc Alberto, Okan Baspinar, Aurélie Robert, Natacha Dreumont, Zeinab Alsahly, David Meyre, Jean‐Louis Guéant, David Coelho   +8 more
wiley   +1 more source

Late‐onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation?

JIMD Reports
Methionine synthase reductase deficiency (cblE) is a rare autosomal recessive inborn error of cobalamin metabolism caused by pathogenic variants in the methionine synthase reductase gene (MTRR).
Alexandre Nguyen, Samuel Deshayes, Marie Nowoczyn, Apolline Imbard, Lamisse Mansour‐Hendili, Alexandre Cesbron, Jean François Benoist, Manuel Schiff   +7 more
doaj   +1 more source

Long‐Term Follow‐Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Mitochondrial carbonic anhydrase VA (CA‐VA) deficiency is a rare inherited metabolic disorder caused by biallelic variants of the CA5A gene. It presents with hyperammonemia, lactic acidosis, and ketonuria, with or without hypoglycemia. We report the long‐term follow‐up of the first two reported cases of CA‐VA deficiency: a 16‐year‐old female ...
Shaymaa Shurrab, Amira Mobarak, Gabriella Horvath, Sylvia Stocker‐Ipsiroglu, Clara van Karnebeek, Ramona Salvarinova‐Zivkovic   +5 more
wiley   +1 more source

Vitamin B12 (hydroxocobalamin) administration in the management of persistent vasoplegic shock

Saudi Journal of Anaesthesia
Vasoplegia, characterized by low systemic vascular resistance despite normal to high cardiac output, can result from various conditions, including cardiac surgery, and progress to vasoplegic shock if untreated.
Jibran Ikram, Cassandra L. Williams, Aariya Srinivasan, Jose L. Diz Ferre, Sabry Ayad   +4 more
doaj   +1 more source

Not all that is red is blood: a curious case of chromaturia

Clinical Case Reports, 2018
Key Clinical Message Hydroxocobalamin causes reddish discoloration of the urine, mimicking hematuria. Clinicians should be aware of this common side effect of the rarely used drug to prevent unnecessary consultations and work‐up. Additional benign causes
Abhilash Koratala, Gajapathiraju Chamarthi, Mark S. Segal   +2 more
doaj   +1 more source

Pregnancy in Lysinuric Protein Intolerance Complicated by Immune Dysregulation and Severe Thrombocytopenia

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Lysinuric protein intolerance (LPI) is a rare disorder of dibasic amino acid transport associated with secondary urea cycle defects and immune dysregulation. Pregnancy in LPI is seldom reported and presents significant management challenges.
Eamon P. McCarron, Melanie Hill, Adam Lomas, Victoria Elliott, Emma Walkinshaw, Tessa Bonnett, Kar‐Ping Kuet, Rachel Tattersall, Claire Mapplebeck   +8 more
wiley   +1 more source