Results 31 to 40 of about 21,981 (227)

Nonconvulsive status epilepticus secondary to acute porphyria crisis

Epilepsy and Behavior Case Reports, 2019
Both variegate and acute intermittent porphyria can manifest with various neurological symptoms. Although acute symptomatic seizures have been previously described, they are typically tonic–clonic and focal impaired awareness seizures.
Sara Dawit, Shubhang K. Bhatt, Devika M. Das, Andrew R. Pines, Harn J. Shiue, Brent P. Goodman, Joseph F. Drazkowski, Joseph I. Sirven   +7 more
doaj   +1 more source

Consideration of Acute Porphyria in an Emergency Department Patient: A Case Report and Discussion of Common Pitfalls

Clinical Practice and Cases in Emergency Medicine, 2022
Introduction: Porphyria refers to a group of disorders associated with defects in heme synthesis. They can be associated with severely debilitating features, including abdominal pain, psychiatric symptoms, neurological defects, and cardiovascular ...
Anthony Rios, Lisa Kehrberg, Hillary E. Davis   +2 more
doaj   +1 more source

Bioanalytical studies of porphyric disorders using HPLC with fluorescence detection [PDF]

, 2014
We describe here the development, validation, quantification and application of a method for determination of heme porphyrin precursors in the urine of porphyric patients.
Alves, Atecla Nunciata Lopes, Assunção, Nilson Antonio, Bechara, Etelvino José Henriques, Cypriani, Michele Gotelipe de Souza Corrêa   +3 more
core   +2 more sources

Feasibility of cellular bioenergetics as a biomarker in porphyria patients

Molecular Genetics and Metabolism Reports, 2019
Porphyria is a group of metabolic disorders due to altered enzyme activities within the heme biosynthetic pathway. It is a systemic disease with multiple potential contributions to mitochondrial dysfunction and oxidative stress.
Balu Chacko, Matilda Lillian Culp, Joseph Bloomer, John Phillips, Yong-Fang Kuo, Victor Darley-Usmar, Ashwani K. Singal   +6 more
doaj   +1 more source

Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports

Orphanet Journal of Rare Diseases, 2020
Background Aceruloplasminemia is a rare genetic iron overload disorder, characterized by progressive neurological manifestations. The effects of iron chelation on neurological outcomes have only been described in case studies, and are inconsistent ...
Lena H. P. Vroegindeweij, Agnita J. W. Boon, J. H. Paul Wilson, Janneke G. Langendonk   +3 more
doaj   +1 more source

A case of porphyria cutanea tarda in the setting of hepatitis C infection and tobacco usage [PDF]

, 2019
Porphyria cutanea tarda (PCT) is the most common type of porphyria, presenting in middle-aged patients with a photodistributed vesiculobullous eruption, milia, and scars.
Brinster, NK, Chen, L, Lederhandler, M, Meehan, SA, Neimann, A   +4 more
core  

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

Acute Hepatic Porphyria Should Be Included in the Diagnostic Work-Up of Patients with Resistant Hypertension or Suspected Secondary Hypertension

Medical Sciences
Secondary hypertension and resistant hypertension may result from potentially treatable acquired or hereditary diseases. Inherited Metabolic Disorders are not routinely included in the differential diagnosis of these contexts associated with hypertension,
Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, João Paulo Barile, Patrícia Marques Mendes, Renan Brandão Rambaldi Cavalheiro, Kaliny Oliveira Peixoto, Igor Braga Farias, Roberta Ismael Lacerda Machado, Daniel Delgado Seneor, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira, Paulo Sgobbi   +11 more
doaj   +1 more source

Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study [PDF]

, 2016
Background: The acute hepatic porphyrias (AHPs) are rare inborn errors of heme biosynthesis, characterized clinically by life-threatening acute neurovisceral attacks.
Balwani, M, Desnick, RJ, Naik, H, Sanderson, SC, Stoecker, M   +4 more
core   +1 more source

Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

Case Reports in Genetics, 2020
Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates.
G. N. Cerbino, L. Abou Assali, L. S. Varela, L. Tomassi, A. Batlle, V. E. Parera, M. V. Rossetti   +6 more
doaj   +1 more source