Results 41 to 50 of about 7,124 (172)

Acute intermittent porphyria in adults: a clinical case

open access: yesКубанский научный медицинский вестник, 2022
Background. Porphyria unites genetic pathologies related to abnormal haem (an intermediate product of haemoglobin metabolism) synthesis and its toxic products accumulation in human body.
M. A. Barabanova   +4 more
doaj   +1 more source

Photodynamic Therapy for Facial Rejuvenation Combined Amber LED and Infrared Laser Irradiation: A Pilot Study Comparing ALA and MAL

open access: yesJournal of Biophotonics, Volume 19, Issue 8, August 2026.
Topical ALA‐ and MAL‐based photodynamic protocols combined with amber light and infrared irradiation produced distinct PpIX fluorescence profiles in photoaged skin, revealing different photodynamic responses and supporting their potential use as complementary strategies for skin rejuvenation and improvement of photoaging‐related strategies.
Tassia Joi Martins   +4 more
wiley   +1 more source

Nucleotide Metabolism in Health and Disease

open access: yesMedComm, Volume 7, Issue 8, August 2026.
Nucleotide metabolism, including de novo synthesis, salvage pathways, and catabolism, when dysregulated contributes to cancer, immune disorders, metabolic and urological diseases, and radiation injury. Metabolites such as adenosine, cGAMP, NAD, and cAMP and enzymes like RNR are promising therapeutic targets and biomarkers.
Xiaoying Zhao   +7 more
wiley   +1 more source

Acute Intermittent Porphyria: Current Perspectives And Case Presentation

open access: yesTherapeutics and Clinical Risk Management, 2019
Zachary Spiritos,1 Shakirat Salvador,2 Diana Mosquera,3 Julius Wilder1,4 1Department of Medicine, Division of Gastroenterology, Duke University School of Medicine, Durham, NC, USA; 2Department of Medicine, Division of Gastroenterology, Vanderbilt ...
Spiritos Z   +3 more
doaj  

Iron Overload: Pathophysiology, Diagnosis and Monitoring

open access: yesInternational Journal of Laboratory Hematology, Volume 48, Issue 4, Page 747-756, August 2026.
ABSTRACT Iron overload is associated with significant health risks, underscoring the importance of understanding its pathophysiology as well as establishing accurate diagnostic and monitoring methods. Chronic iron overload is associated with either genetic disorders characterized by excessive iron accumulation (hereditary hemochromatosis), or is ...
Elena Chatzikalil   +3 more
wiley   +1 more source

The Synthetic Melanocortin Agonist NDP‐MSH Ameliorates THSD7A‐Associated Membranous Nephropathy in an Active Immunization Mouse Model

open access: yesThe FASEB Journal, Volume 40, Issue 13, 15 July 2026.
Active immunization with recombinant THSD7A in mice induces autoreactive B cell activation and differentiation into CD138+ antibody‐secreting cells, leading to the production of anti‐THSD7A autoantibodies, glomerular immune injury and proteinuria, characteristic of membranous nephropathy. NDP‐MSH treatment modulates the MITF/IRF4 axis in primed B cells,
Mingzhuo Zhang   +4 more
wiley   +1 more source

Schizophrenic Phenotype and Therapeutic Course Associated With Chromosome 22q11.2 Deletion in a Cohort Without Prior Diagnosis of Chromosome 22q11.2 Deletion Syndrome

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 5, Page 331-337, July 2026.
ABSTRACT Chromosome 22q11.2 deletion is the greatest single genetic factor predisposing to schizophrenia. The prevalence of schizophrenia reported ranges from 2% to 30% in patients with chromosome 22q11.2 deletion syndrome with a still discussed phenotype.
Micha Gawlik   +3 more
wiley   +1 more source

Anesthesia for hemicolectomy in a known porphyric with cecal malignancy

open access: yesSaudi Journal of Anaesthesia, 2015
Intraoperative management of a known acute intermittent porphyria patient is a challenge requiring awareness of factors, which trigger an acute crisis, clinical features of a porphyric attack, knowledge of safe pharmacologic intervention, and ...
B K Naithani   +3 more
doaj   +1 more source

Acute Intermittent Porphyria, Posterior Reversible Encephalopathy Syndrome and Hypertensive Emergency, A Review of The Literature

open access: yesEgyptian Journal of Critical Care Medicine, 2020
Acute intermittent porphyria is an autosomal dominant inborn error characterized by decreased activity of porphobilinogen deaminase leading to increased levels of haem precursors, namely aminolevulinic acid and porphobilinogen.
Mohamed A. Ahmed   +2 more
doaj   +1 more source

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