Porphyria is a group of diseases in which substances called por... - dofaq.com

Porphyria is a group of diseases in which substances called por...

wikipedia - 07 Nov 2016
Porphyria is a group of diseases in which substances called porphyrins build up, affecting the skin or nervous system. The types that affect the nervous system are also known as acute porphyria. Symptoms of acute porphyria include abdominal pain, chest pain, vomiting, confusion, constipation, fever, and seizures. These symptoms typically come and go with attacks that last for days to weeks. Attacks may be triggered by alcohol, smoking, stress, or certain medications. If the skin is affected, blisters

How to spot zebras - acute porphyria

Pulse - 18 Jun 2018
There are eight different porphyrias, which can be grouped into those presenting with acute attacks (acute porphyrias) and those presenting with light-sensitive skin problems (skin porphyrias), although there is some overlap. All of them are ...

Alnylam to Report New Clinical Results for Patisiran at the 4

Business Wire (press release) - 15 Jun 2018
In addition, Alnylam and collaborators will give encore presentations of results from the Phase 1 and Phase 1/2 OLE studies of givosiran, an investigational RNAi therapeutic for the treatment of patients with Acute Hepatic Porphyrias (AHPs) with ...

This Acne Treatment Is as Easy as Turning on a Light

Brit + Co - 18 Jun 2018
Jaliman advises those that take medications like methotrexate or chloroquine against trying the treatment, as there is a risk of causing porphyria, a rare hereditary disease in which the blood pigment hemoglobin is abnormally metabolized. Cutler agrees ...

Acute Hepatic Porphyrias Explained: Physician Perspective

Rare Disease Report - 07 May 2018
International Porphyria Awareness Week was observed throughout the United States from April 21st through April 28th, and to recognize the effort, Rare Disease Report sat down and spoke with a physician who treats porphyrias: Bruce Wang, MD, ...

RNAi Therapy for Porphyrias Yields Positive Results

Rare Disease Report - 16 Apr 2018
Monthly administration of givosiran at 2.5 mg/kg, an investigational RNA interference (RNAi) therapeutic intended for the treatment of actute hepatic porphyrias (AHPs), is believed to significantly lower aminolevulinic acid synthase 1 (ALAS1) levels in ...

BIO: Lightning round with John Maraganore

FierceBiotech - 07 Jun 2018
For our porphyria program, the readout of the interim analysis that will be done in support of accelerated approval will, if positive, lead to an NDA filing by the end of the year, with a U.S. launch in 2019. Our primary hyperoxaluria program ...

Porphyria cutanea tarda presenting as milia and blisters

CMAJ - 16 May 2018
This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased. CMA Member Access. CMA Members please log in below using your ...

Kondhwa siblings battle rare genetic disorder porphyria

Times of India - 16 May 2018
PUNE: Sixteen-year-old Ahmed had complained of severe abdominal pain. The doctors ran certain specific urine tests and diagnosed him with a very rare genetic disorder — porphyria. Ahmed is the second confirmed patient of porphyria from the same family ...

Alnylam heads for phase 3 with acute porphyria program

FierceBiotech - 26 Jun 2017
RNA interference (RNAi) specialist Alnylam has hit the accelerator on its candidate drug for ultrarare porphyria diseases, prepping for phase 3 trials later this year after unveiling initial results in 12 patients. Alnylam's givosiran achieved a ...

Alnylam Initiates Phase 3 of Givosiran in Acute Hepatic Porphyrias

Rare Disease Report - 07 Nov 2017
The primary endpoint is the annualized rate of porphyria attacks requiring hospitalization, urgent healthcare visit or hemin administration at home over the 6-month period during which the study is taking place. All patients completing the treatment ...

Acute intermittent porphyria described in teen girl

Medical Xpress - 05 Dec 2017
(HealthDay)—A case of a 16-year-old presenting to the emergency department with acute intermittent porphyria (AIP) is described in a case report published online Dec. 5 in Pediatrics. Grace Hunter, from Stanford University School of Medicine in ...

From prizes to Porphyria — this week's quiz's random!

The Hindu - 24 Feb 2018
There is a rare genetic disorder called 'Porphyria' that makes people extremely sensitive to sunlight leaving abrasions on the skin. It turns their urine a purplish-red colour and also increases hair growth while tightening and shrinking the skin ...

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