Pharmacokinetic ‐Pharmacodynamic Model of Urinary δ‐Aminolevulinic Acid Reduction After Givosiran Treatment in Patients with Acute Hepatic Porphyria
AbstractGivosiran, an RNA interference-based therapeutic, is a recent addition to the limited treatment armamentarium for acute hepatic porphyria (AHP). As a small interfering RNA (siRNA) that is selectively taken up in the liver, both the mechanism and targeted delivery create a complex relationship between givosiran pharmacokinetics (PK) and the pharmacodynamic (PD) response. Using pooled data from phase 1-3 clinical trials of givosiran, we developed a semi-mechanistic PK/PD model to describe the relationship between predicted liver and RNA induced silencing complex (RISC) concentrations of givosiran and the associated r...
Source: CPT: Pharmacometrics and Systems Pharmacology - March 8, 2023 Category: Drugs & Pharmacology Authors: Jongtae Lee,
Megan Melch,
Gabriel J. Robbie Tags: ARTICLE Source Type: research
Acute intermittent porphyria: A rare cause of syndrome of inappropriate antidiuretic hormone secretion
J R Coll Physicians Edinb. 2023 Mar 8:14782715231161499. doi: 10.1177/14782715231161499. Online ahead of print.ABSTRACTA 31-year-old female presented to the emergency department with abdominal pain, vomiting and constipation. Serum sodium levels were recorded at 110 on admission, dropping to 96 despite fluid restriction. The patient developed hallucinations and required hypertonic saline administration in critical care. Urinary sodium was detected at 149, consistent with syndrome of inappropriate antidiuretic hormone secretion (SiADH). Urinary porphyrins were also raised, consistent with a diagnosis of acute intermittent p...
Source: Pain Physician - March 8, 2023 Category: Anesthesiology Authors: William Cunningham Joel Chilaka Nehemiah Edwards Katherine Poulton Source Type: research
Acute intermittent porphyria: A rare cause of syndrome of inappropriate antidiuretic hormone secretion
J R Coll Physicians Edinb. 2023 Mar 8:14782715231161499. doi: 10.1177/14782715231161499. Online ahead of print.ABSTRACTA 31-year-old female presented to the emergency department with abdominal pain, vomiting and constipation. Serum sodium levels were recorded at 110 on admission, dropping to 96 despite fluid restriction. The patient developed hallucinations and required hypertonic saline administration in critical care. Urinary sodium was detected at 149, consistent with syndrome of inappropriate antidiuretic hormone secretion (SiADH). Urinary porphyrins were also raised, consistent with a diagnosis of acute intermittent p...
Source: Journal of the Royal College of Physicians of Edinburgh - March 8, 2023 Category: General Medicine Authors: William Cunningham Joel Chilaka Nehemiah Edwards Katherine Poulton Source Type: research
Acute intermittent porphyria: A rare cause of syndrome of inappropriate antidiuretic hormone secretion
J R Coll Physicians Edinb. 2023 Mar 8:14782715231161499. doi: 10.1177/14782715231161499. Online ahead of print.ABSTRACTA 31-year-old female presented to the emergency department with abdominal pain, vomiting and constipation. Serum sodium levels were recorded at 110 on admission, dropping to 96 despite fluid restriction. The patient developed hallucinations and required hypertonic saline administration in critical care. Urinary sodium was detected at 149, consistent with syndrome of inappropriate antidiuretic hormone secretion (SiADH). Urinary porphyrins were also raised, consistent with a diagnosis of acute intermittent p...
Source: Pain Physician - March 8, 2023 Category: Anesthesiology Authors: William Cunningham Joel Chilaka Nehemiah Edwards Katherine Poulton Source Type: research
Acute intermittent porphyria: A rare cause of syndrome of inappropriate antidiuretic hormone secretion
J R Coll Physicians Edinb. 2023 Mar 8:14782715231161499. doi: 10.1177/14782715231161499. Online ahead of print.ABSTRACTA 31-year-old female presented to the emergency department with abdominal pain, vomiting and constipation. Serum sodium levels were recorded at 110 on admission, dropping to 96 despite fluid restriction. The patient developed hallucinations and required hypertonic saline administration in critical care. Urinary sodium was detected at 149, consistent with syndrome of inappropriate antidiuretic hormone secretion (SiADH). Urinary porphyrins were also raised, consistent with a diagnosis of acute intermittent p...
Source: Journal of the Royal College of Physicians of Edinburgh - March 8, 2023 Category: General Medicine Authors: William Cunningham Joel Chilaka Nehemiah Edwards Katherine Poulton Source Type: research
Brazilian registry of patients with porphyria: REBRAPPO study
Porphyrias are a rare group of disease due to inherited defects of heme synthesis with important systemic manifestations and great burden of disease for patients and families due to the exceptional course of d... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 8, 2023 Category: Internal Medicine Authors: Paulo Victor Sgobbi Souza, Gliciane Afonso, Wladimir Bocca Vieira de Rezende Pinto, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Igor Braga Farias, Ana Carolina dos Santos Jorge, Roberta Ismael Lacerda Machado, Icaro Fran ça Navarro Pinto, Glen Tags: Research Source Type: research
Ledipasvir/Sofosbuvir Is Effective as Sole Treatment of Porphyria Cutanea Tarda with Chronic Hepatitis C
ConclusionsLedipasvir/sofosbuvir [and likely other direct-acting antivirals] is an effective treatment for HCV in the presence of PCT and leads to clinical remission of PCT without additional phlebotomy or low-dose hydroxychloroquine treatment.Trial RegistrationClinicalTrials.gov NCT03118674. (Source: Digestive Diseases and Sciences)
Source: Digestive Diseases and Sciences - February 22, 2023 Category: Gastroenterology Source Type: research
Perinatal onset of severe congenital erythropoietic porphyria
Female full-term (39 weeks’ gestation) neonate born of non-consanguineous healthy young white couple is admitted to neonatal intensive care unit with an acute respiratory distress syndrome. Prenatal ultrasound at 25 weeks of gestation revealed an increased nuchal translucency and a myocardial hypertrophy. The antenatal explorations found no aetiology (fetal DNA was analysed by comparative genomic hybridisation-array platform). At birth, she had multiple ecchymosis all over her body, her skin coloration was grey (figure 1) and her urine reddish (figure 2). Initial laboratory data demonstrated pancytopenia, high serum ...
Source: Archives of Disease in Childhood - Fetal and Neonatal Edition - February 17, 2023 Category: Perinatology & Neonatology Authors: Khalouaoui, A., Piarroux, J., Sorin, G., Oger, M., Nicaise, C., Tosello, B. Tags: Images in neonatal medicine Source Type: research
Cancers, Vol. 15, Pages 1187: Reply to Lissing et al. Comment on & ldquo;Ramai et al. Risk of Hepatocellular Carcinoma in Patients with Porphyria: A Systematic Review. Cancers 2022, 14, 2947 & rdquo;
Cancers, Vol. 15, Pages 1187: Reply to Lissing et al. Comment on “Ramai et al. Risk of Hepatocellular Carcinoma in Patients with Porphyria: A Systematic Review. Cancers 2022, 14, 2947”
Cancers doi: 10.3390/cancers15041187
Authors:
Daryl Ramai
Smit S. Deliwala
Saurabh Chandan
Janice Lester
Jameel Singh
Jayanta Samanta
Sara di Nunzio
Fabio Perversi
Francesca Cappellini
Aashni Shah
Michele Ghidini
Rodolfo Sacco
Antonio Facciorusso
Luca Giacomelli
We thank Dr. Lissing and colleagues for providing us with these helpful comments [...] (Source: Cancers)
Source: Cancers - February 13, 2023 Category: Cancer & Oncology Authors: Daryl Ramai Smit S. Deliwala Saurabh Chandan Janice Lester Jameel Singh Jayanta Samanta Sara di Nunzio Fabio Perversi Francesca Cappellini Aashni Shah Michele Ghidini Rodolfo Sacco Antonio Facciorusso Luca Giacomelli Tags: Reply Source Type: research
Pathogenesis of acute encephalopathy in acute hepatic porphyria
AbstractAcute encephalopathy (AE) can be a manifestation of an acute porphyric attack. Clinical data were studied in 32 patients during AE with or without polyneuropathy (PNP) together with 12 subjects with PNP but no AE, and 17 with dysautonomia solely. Brain neuroimaging was done in 20 attacks during AE, and PEPT2 polymorphisms were studied in 56 subjects, 24 with AE. AE manifested as a triad of seizures, confusion and/or blurred vision. Symptoms lasting 1 –5 days manifested 3–19 days from the onset of an attack. 55% of these patients had acute PNP independent of AE. Posterior reversible encephalopathy syndrome (PR...
Source: Journal of Neurology - February 9, 2023 Category: Neurology Source Type: research
Transcriptome profile analysis reveals putative molecular mechanisms of 5-aminolevulinic acid toxicity
This study provided additional knowledge about molecular mechanisms of 5-ALA toxicity which is essential to a deeper understanding of AIP and HCC pathophysiology. Furthermore, our findings can contribute to improving the efficacy of current therapies and the development of novel biomarkers and targets for diagnosis, prognosis, and therapeutic strategies for AHP/AIP and associated HCC.PMID:36746260 | DOI:10.1016/j.abb.2023.109540 (Source: Archives of Biochemistry and Biophysics)
Source: Archives of Biochemistry and Biophysics - February 6, 2023 Category: Biochemistry Authors: Patricia Regina Menezes Carlos Eduardo Madureira Trufen Flavio Lichtenstein Diogo Vieira da Silva Pellegrina Eduardo Moraes Reis Janice Onuki Source Type: research
Transcriptome profile analysis reveals putative molecular mechanisms of 5-aminolevulinic acid toxicity
This study provided additional knowledge about molecular mechanisms of 5-ALA toxicity which is essential to a deeper understanding of AIP and HCC pathophysiology. Furthermore, our findings can contribute to improving the efficacy of current therapies and the development of novel biomarkers and targets for diagnosis, prognosis, and therapeutic strategies for AHP/AIP and associated HCC.PMID:36746260 | DOI:10.1016/j.abb.2023.109540 (Source: Archives of Biochemistry and Biophysics)
Source: Archives of Biochemistry and Biophysics - February 6, 2023 Category: Biochemistry Authors: Patricia Regina Menezes Carlos Eduardo Madureira Trufen Flavio Lichtenstein Diogo Vieira da Silva Pellegrina Eduardo Moraes Reis Janice Onuki Source Type: research
Transcriptome profile analysis reveals putative molecular mechanisms of 5-aminolevulinic acid toxicity
This study provided additional knowledge about molecular mechanisms of 5-ALA toxicity which is essential to a deeper understanding of AIP and HCC pathophysiology. Furthermore, our findings can contribute to improving the efficacy of current therapies and the development of novel biomarkers and targets for diagnosis, prognosis, and therapeutic strategies for AHP/AIP and associated HCC.PMID:36746260 | DOI:10.1016/j.abb.2023.109540 (Source: Archives of Biochemistry and Biophysics)
Source: Archives of Biochemistry and Biophysics - February 6, 2023 Category: Biochemistry Authors: Patricia Regina Menezes Carlos Eduardo Madureira Trufen Flavio Lichtenstein Diogo Vieira da Silva Pellegrina Eduardo Moraes Reis Janice Onuki Source Type: research
