New class of medicines shows promise
'Gene silencing' spares patients the crippling pain of intermittent porphyria Related items fromOnMedica Higher cancer risk from chronic diseases Hepatocellular carcinoma risk, cirrhosis and hepatitis C Kidney disease hits 850 million people Commonest genetic mutation causes much morbidity Prevention screening for one third of population (Source: OnMedica Latest News)
Source: OnMedica Latest News - April 15, 2019 Category: UK Health Source Type: news
Gene-silencing: 'New class' of medicine reverses disease porphyria
Gene silencing drugs spared patients from the crippling pain caused by porphyria, in a clinical trial. (Source: BBC News | Health | UK Edition)
Source: BBC News | Health | UK Edition - April 13, 2019 Category: Consumer Health News Source Type: news
On Rare Disease Day, Alnylam launches patient advocacy grant program
In honor of Rare Disease Day, Alnylam Pharmaceuticals has launched a grant program for patients advocacy groups increasing awareness of two uncommon diseases. Alnylam (Nasdaq: ALNY) announced the first seven recipients of its new Advocacy for Impact Grants program Thursday. Through the program, the drug company will give out $248,000 to organizations focused on the rare diseases acute hepatic porphyria and ATTR amyloidosis. The activities of those grou ps include advocating for better diagnosis… (Source: bizjournals.com Health Care:Pharmaceuticals headlines)
Source: bizjournals.com Health Care:Pharmaceuticals headlines - February 28, 2019 Category: Pharmaceuticals Authors: Allison DeAngelis Source Type: news
Updates on new therapies in development for rare liver diseases
(European Association for the Study of the Liver) Long-term data with sebelipase alfa for lysosomal acid lipase deficiency and preliminary data for investigational RNAi therapeutics for acute intermittent porphyria and alpha-1 antitrypsin deficiency add continued hope for the future management of metabolic and rare liver diseases. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 14, 2018 Category: International Medicine & Public Health Source Type: news
Elusive Diagnosis of Acute Intermittent Porphyria in a Teenage Girl Elusive Diagnosis of Acute Intermittent Porphyria in a Teenage Girl
Abdominal pain and hyponatremia in a 16-year-old girl with constipation and disordered eating confounded the diagnosis of a much less common condition, acute intermittent porphyria (AIP), according to a case report published online December 5 in Pediatrics.Reuters Health Information (Source: Medscape Medical News Headlines)
Source: Medscape Medical News Headlines - December 6, 2017 Category: Consumer Health News Tags: Ob/Gyn & Women ' s Health News Source Type: news
Your NEJM Group Today: Porphyria Review / Starting HIV Therapy at Diagnosis / Colorado IM Opportunity (FREE)
By the Editors Take a look at today's offering from NEJM Group:NEJM Clinical Practice Center: Review article: Each of the eight enzymes involved in … (Source: Physician's First Watch current issue)
Source: Physician's First Watch current issue - September 6, 2017 Category: Primary Care Source Type: news
Medical News Today: Porphyria cutanea tarda: What you need to know
Porphyria cutanea tarda is a genetic condition affecting the skin and nervous system. Learn about the causes, symptoms, how it is diagnosed, and treatment. (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - July 23, 2017 Category: Consumer Health News Tags: Blood / Hematology Source Type: news
Medical News Today: Porphyria: Types, causes, and management
Porphyria is a group of metabolic disorders. In this article, learn about the different types of porphyria, their causes, and how they can be managed. (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - July 14, 2017 Category: Consumer Health News Tags: Genetics Source Type: news
Recordati Rare Diseases Introduces New PANHEMATIN(R) (Hemin for Injection) Dosage Strength for Treatment of Acute Intermittent Porphyria (AIP)
Updated Label Reflects More Than 30 Years of Clinical Experience LEBANON, N.J., July 5, 2017 -- (Healthcare Sales & Marketing Network) -- Recordati Rare Diseases Inc., a biopharmaceutical company committed to providing orphan therapies to underserved r... Biopharmaceuticals, Product Launch Recordati Rare Diseases, PANHEMATIN, hemin, Porphyria (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - July 5, 2017 Category: Pharmaceuticals Source Type: news
When It's Not A Sunburn But A Sun Allergy
As it gets warmer and people start spending more time outside, I have more and more patients coming into my office and complaining of a “sun allergy.” A sun allergy is really a layman’s term, which refers to a number of conditions when a rash occurs on skin that has been exposed to the sun. These are also referred to as photosensitive disorders or photodermatoses, and can be broadly categorized into the following medical terms: idiopathic photodermatoses, exogenous photodermatoses, photoexacerbated dermatoses, genetic photodermatoses, and metabolic photodermatoses. Sounds complicated, right? A...
Source: Healthy Living - The Huffington Post - June 8, 2017 Category: Consumer Health News Source Type: news
Acute porphyria presenting as major trauma: case report and literature review - Norton J, Hymers C, Stein P, Jenkins JM, Bew D.
BACKGROUND: Acute porphyria is historically known as "the little imitator" in reference to its reputation as a notoriously difficult diagnosis. Variegate porphyria is one of the four acute porphyrias, and can present with both blistering cutaneous lesions ... (Source: SafetyLit)
Source: SafetyLit - November 3, 2016 Category: Global & Universal Tags: Economics of Injury and Safety, PTSD, Injury Outcomes Source Type: news
Finding tech passion in an unlikely place
With many gains in health information technology over the past decade, newly appointed National Coordinator for Health IT Vindell Washington, MD, took time at Health 2.0 last week to describe his first experience with health technology, what it means for the health care community and new tools for physicians and entrepreneurs. Dr. Washington found his passion for health care technology as a captain in the U.S. Army. He was stationed in Haiti leading the emergency department in the 28th combat support hospital when a patient presented with “a fever, a rash, a really unusual constellation of symptoms,” he said. ...
Source: AMA Wire - October 5, 2016 Category: Journals (General) Authors: Troy Parks Source Type: news
Rare genetic variations may solve mystery of porphyria severity in some patients
(St. Jude Children's Research Hospital) St. Jude Children's Research Hospital and international collaborators have identified variations in a transport protein that help explain symptom severity in porphyria patients and suggest possible treatment strategies. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - August 10, 2016 Category: Global & Universal Source Type: news
Drug-induced iron deficiency decreased congenital erythropoietic porphyria symptoms
Using deferasirox to induce iron deficiency may improve the symptoms of congenital erythropoietic porphyria. The findings come from a study of a woman of Alaskan Native descent who was diagnosed as an infant with CEP and had compound heterozygosity for C73R and A104V mutations in uroporphyrinogen...googletag.display('div-gpt-ad-cta'); (Source: Skin and Allergy News)
Source: Skin and Allergy News - July 24, 2015 Category: Dermatology Source Type: news
What Causes Bullae?
Discussion Bullae are fluid-filled epidermal lesions that are filled with serous or seropurulent fluid. They are> 1 cm in diameter and often easily rupture due to their thin walls. The differential diagnosis is different for bullae than for vesicular lesions with bullae being often more worrisome. However there is overlap and vesicular diseases can become large enough to be bullae. Drug toxicity and genetic problems are also more common in bullae whereas vesicles are more often caused by infectious diseases. Potentially life threatening conditions such as toxic epidermal necrolysis syndrome, Stevens Johnson syndrome or...
Source: PediatricEducation.org - April 20, 2015 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
Q&A: A Few Reasons to Love Bleeding
In at least a few specific ailments, periodic blood donations have advantages for the donor. (Source: NYT Health)
Source: NYT Health - March 2, 2015 Category: Consumer Health News Authors: By C. CLAIBORNE RAY Tags: Blood Donation polycythemia bloodletting porphyria Hemochromatosis Source Type: news
Make the diagnosis, Sherlock!
This is a case recently reported in the Medical Journal of Australia. A 50-year-old woman presented with a read, painful, scaling rash on her hand an forearms, and around her eyes. She reported that sun exposure aggravated the dermal symptoms. She also gave a history of intermittent diarrhea. Examination revealed a scaly hyperpigmented lesion on her upper chest, in the distribution of a broad collar. The patient was a smoker and said she consumed half a bottle of gin daily. The skin manifestations did not respond to antibiotics or steroids. Click on the following questions to reveal the answers. Was is the diagn...
Source: The Poison Review - May 22, 2014 Category: Toxicology Authors: Leon Tags: Medical dermatitis niacin deficiency pellagra Source Type: news
Title: PorphyriaCategory: Diseases and ConditionsCreated: 3/5/2012 6:00:00 PMLast Editorial Review: 4/3/2014 12:00:00 AM (Source: MedicineNet Heart General)
Source: MedicineNet Heart General - April 3, 2014 Category: Cardiology Source Type: news
What Causes Muscle Weakness?
Discussion Muscle tone is the slight tension that is felt in a muscle when it is voluntarily relaxed. It can be assessed by asking the patient to relax and then taking the muscles through a range of motion such as moving the wrists, forearm and upper arm. Muscle strength is the muscle’s force against active resistance. Impaired strength is called weakness or paresis. There are 5 levels of muscle strength. 0 = No muscle contraction detected 1 = Barely detected flicker of contraction 2 = Active movement with gravity eliminated 3 = Active movement against gravity 4 = Active movement against gravity and some resistance ...
Source: PediatricEducation.org - December 9, 2013 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news