Results 21 to 30 of about 2,271 (165)

Kidney Involvement in Acute Hepatic Porphyrias: Pathophysiology and Diagnostic Implications

Diagnostics, 2021
Porphyrias are a group of rare disorders originating from an enzyme dysfunction in the pathway of heme biosynthesis. Depending on the specific enzyme involved, porphyrias manifest under drastically different clinical pictures.
Andrea Ricci, Claudio Carmine Guida, Paola Manzini, Chiara Cuoghi, Paolo Ventura   +4 more
doaj   +1 more source

Implanted Progestin Causing Pain and Psychiatric Disturbances in Porphyria Attack: A Case Report

Clinical Practice and Cases in Emergency Medicine, 2023
Introduction: Acute hepatic porphyrias (AHP) are a rare group of inherited disorders caused by abnormal functioning of the heme synthesis pathway. Patients often present with diffuse abdominal pain, neurologic dysfunction, and hyponatremia.
Ryan K. Misek, Massimo F. Riitano
doaj   +1 more source

Laboratory Diagnosis of Porphyria

Diagnostics, 2021
Porphyrias are a group of diseases that are clinically and genetically heterogeneous and originate mostly from inherited dysfunctions of specific enzymes involved in heme biosynthesis. Such dysfunctions result in the excessive production and excretion of
Elena Di Pierro, Michele De Canio, Rosa Mercadante, Maria Savino, Francesca Granata, Dario Tavazzi, Anna Maria Nicolli, Andrea Trevisan, Stefano Marchini, Silvia Fustinoni   +9 more
doaj   +1 more source

Iron Metabolism in the Disorders of Heme Biosynthesis

Metabolites, 2022
Given its remarkable property to easily switch between different oxidative states, iron is essential in countless cellular functions which involve redox reactions. At the same time, uncontrolled interactions between iron and its surrounding milieu may be
Andrea Ricci, Giada Di Betto, Elisa Bergamini, Elena Buzzetti, Elena Corradini, Paolo Ventura   +5 more
doaj   +1 more source

Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias

Case Reports in Hematology, 2013
The porphyrias are a group of disorders characterized by an enzyme deficiency in the heme biosynthetic pathway. These can be classified into either erythropoietic or hepatic forms depending on the site of the major enzyme deficiency.
Henry Trier, Vikram P. Krishnasamy, Pashtoon Murtaza Kasi   +2 more
doaj   +1 more source

Acute intermittent porphyria in a 23-year-old man: case report

Revista Médica de Minas Gerais, 2023
Introduction: Porphyrias are metabolic disorders caused by enzymatic alterations in the biosynthesis of the heme group of heme proteins. The clinical spectrum of porphyrias is associated with the location of the damage in the heme formation chain ...
Tarcísio Silva Borborema, Leticia Utsch Araujo, Manoel Bruno Pereira Lima, Lucas Muller Fonseca, Juliana Mattos Tavares   +4 more
doaj   +1 more source

Spotlight on Givosiran as a Treatment Option for Adults with Acute Hepatic Porphyria: Design, Development, and Place in Therapy

Drug Design, Development and Therapy, 2022
Chaudry Nasir Majeed,1 Christopher D Ma,2 Ted Xiao,3 Sean Rudnick,1 Herbert L Bonkovsky1 1Department of Internal Medicine, Section on Gastroenterology and Hepatology, Wake Forest School of Medicine, Winston-Salem, NC, USA; 2Wake Forest University School ...
Majeed CN, Ma CD, Xiao T, Rudnick S, Bonkovsky HL   +4 more
doaj  

Mechanisms of Neuronal Damage in Acute Hepatic Porphyrias

Diagnostics, 2021
Porphyrias are a group of congenital and acquired diseases caused by an enzymatic impairment in the biosynthesis of heme. Depending on the specific enzyme involved, different types of porphyrias (i.e., chronic vs. acute, cutaneous vs.
Andrea Ricci, Elena Di Pierro, Matteo Marcacci, Paolo Ventura   +3 more
doaj   +1 more source

Endothelial Dysfunction in Acute Hepatic Porphyrias

Diagnostics, 2022
Background Acute hepatic porphyrias (AHPs) are a group of rare diseases caused by dysfunctions in the pathway of heme biosynthesis. Although acute neurovisceral attacks are the most dramatic manifestations, patients are at risk of developing long-term ...
Andrea Ricci, Gilda Sandri, Matteo Marcacci, Elena Di Pierro, Francesca Granata, Chiara Cuoghi, Stefano Marchini, Antonello Pietrangelo, Paolo Ventura   +8 more
doaj   +1 more source

A concept for a new approach to combined oral contraception from adolescence to perimenopause: Continuous use of the oral GnRH antagonist Relugolix and the fetal estrogen Estetrol

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
It is expected that the relugolix estetrol combination RE4W will enable women to control their fertility and prevent menstrual cycle related problems, while offering a smooth transition through perimenopause into the postmenopause and decrease the risk of breast cancer.
Herjan J. T. Coelingh Bennink, Karolina Afors, Luis Bahamondes, Alessandra Graziottin, Deborah Bateson, Teresa Bombas, Yutaki Osuga, Santiago Palacios, Carolyn L. Westhoff, Kristina Gemzell‐Danielsson   +9 more
wiley   +1 more source