Posts by: Jose Marques Lopes, PhD

Jose Marques Lopes, PhD

June 27, 2019June 27, 2019

New Genetic Test More Sensitive than Standard Technique, May Help Diagnose Acute Hepatic Porphyrias, Study Finds

News

A new technique that analyzes a group of genes associated with acute hepatic porphyrias (AHPs) is more sensitive and requires less DNA samples, a process that may speed diagnosis, ... Read more

May 24, 2019May 24, 2019

Acute Hepatic Porphyria Patients Have Defects in Cellular Energy Production, Pilot Study Suggests

News

People with acute hepatic porphyria (AHP), with moderate to severe symptoms, have a deficiency in mitochondrial function — meaning that their cells’ “power plants” don’t work properly, according to ... Read more

February 1, 2019February 1, 2019

Japanese Researchers Report Case of Familial PCT with New UROD Mutation

News

Researchers described the case of a Japanese patient with familial porphyria cutanea tarda (PCT) carrying a previously unreported mutation in the UROD gene. The case report, “The first Japanese ... Read more

January 25, 2019January 25, 2019

Altered Blood Vessel Response May Explain Hypertension in AIP, Mouse Study Suggests

News

Differential responses to blood vessel contraction and widening may underlie hypertension in patients experiencing acute intermittent porphyria (AIP) attacks, according to a mouse study. In addition, the differences found between male ... Read more

December 21, 2018December 21, 2018

19 New Mutations Identified in Patients with Hereditary Forms of Porphyria, Including PCT Type 2

News

A genetic study found 19 new mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with type 2 porphyria cutanea tarda (PCT) or hepatoerythropoietic porphyria (HEP). The study, “Porphyria ... Read more

November 9, 2018November 9, 2018

Fatty Lesions in Liver Induced by Alcohol Abuse in 3 Patients with Chronic Hepatic Porphyria, Case Report Suggests

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Three patients with multiple fat deposits in the liver caused by alcohol abuse were diagnosed with chronic hepatic porphyria (CHP), a case report describes. In all three cases, a highly ... Read more

September 14, 2018September 14, 2018

Seizures, Abdominal Pain and PRES Could Indicate AIP, Reports Suggest

News

Patients with abdominal pain, seizures and brain imaging indication of posterior reversible encephalopathy syndrome (PRES) could have acute intermittent porphyria (AIP), according to two new case reports and a ... Read more

August 31, 2018August 31, 2018

Understanding Increased but Treatments Still Limited for Porphyria, Editorial Says

News

Although progress has been made, more research is needed to develop effective therapeutic options for cutaneous porphyria, researchers said in a recent editorial, highlighting the latest advancements in the ... Read more

August 17, 2018August 17, 2018

Misdiagnosis of Acute Intermittent Porphyria Linked to Serious Complications in Case Study

News

A new case report illustrates common misdiagnosis given, and lack of awareness among clinicians, that may cause severe complications to patients with acute intermittent porphyria (AIP). The study, “Many ... Read more

June 8, 2018June 8, 2018

Acute Intermittent Porphyria Patients in China Have Reduced Quality of Life, Study Finds

News

Patients with acute intermittent porphyria (AIP) have reduced quality of life, particularly physical health, a study has concluded. However, the authors also recommend focusing more attention on patients’ mental ... Read more

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