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Showing posts from September, 2019

In PAH, RNF213 Gene Variant a Risk Factor for Poor Outcomes, Study Says - Pulmonary Hypertension News

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In PAH, RNF213 Gene Variant a Risk Factor for Poor Outcomes, Study Says - Pulmonary Hypertension News In PAH, RNF213 Gene Variant a Risk Factor for Poor Outcomes, Study Says - Pulmonary Hypertension News Posted: 30 Sep 2019 06:00 AM PDT Patients with pulmonary arterial hypertension (PAH) who carry a specific mutation in the RNF213 gene have poor clinical outcomes and worse response to combination treatments, according to a study from Japan. The study, " Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension ," was published in  The Journal of Heart and Lung Transplantation . A 2018 study found that approximately 10% of the patients with idiopathic PAH have a specific variant in the RNF213 gene — rs112735431, or p.Arg4810Lys — consisting of an amino acid substitution of arginine to lysine in the RNF213 protein. This gene alteration has already been a...

Growth Differentiation Factor-15 Linked to Transplant-Free Survival in PH - Pulmonology Advisor

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Growth Differentiation Factor-15 Linked to Transplant-Free Survival in PH - Pulmonology Advisor Growth Differentiation Factor-15 Linked to Transplant-Free Survival in PH - Pulmonology Advisor Posted: 27 Sep 2019 03:00 AM PDT Growth differentiation factor-15 (GDF-15) could be a promising biomarker to identify low-risk patients with normal GDF-15 levels, potentially serving as a predictor for mortality in adults with pulmonary hypertension (PH), according to study results published in Heart . This single-center, prospective, observational cohort study included adults diagnosed with PH at their tertiary-care center between May 2012 and October 2016 (N=103). Researchers defined diagnostic right heart catheterization as the baseline and defined PH as a mean pulmonary artery pressure ≥25 mm Hg. To assess the biomarker, they sampled venous blood during the diagnostic right heart catheterization for study purposes only. Investigators used an elec...

In PAH, RNF213 Gene Variant a Risk Factor for Poor Outcomes, Study Says - Pulmonary Hypertension News

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In PAH, RNF213 Gene Variant a Risk Factor for Poor Outcomes, Study Says - Pulmonary Hypertension News In PAH, RNF213 Gene Variant a Risk Factor for Poor Outcomes, Study Says - Pulmonary Hypertension News Posted: 30 Sep 2019 06:00 AM PDT Patients with pulmonary arterial hypertension (PAH) who carry a specific mutation in the RNF213 gene have poor clinical outcomes and worse response to combination treatments, according to a study from Japan. The study, " Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension ," was published in  The Journal of Heart and Lung Transplantation . A 2018 study found that approximately 10% of the patients with idiopathic PAH have a specific variant in the RNF213 gene — rs112735431, or p.Arg4810Lys — consisting of an amino acid substitution of arginine to lysine in the RNF213 protein. This gene alteration has already been a...

Rest and PH: When My Body Talks, I Listen - Pulmonary Hypertension News

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Rest and PH: When My Body Talks, I Listen - Pulmonary Hypertension News Rest and PH: When My Body Talks, I Listen - Pulmonary Hypertension News Posted: 30 Sep 2019 01:00 PM PDT When a person is diagnosed with a serious condition like pulmonary hypertension (PH), they must alter their lifestyle. One of my biggest challenges has been learning to take it easy. I like to keep busy, and I tend to get a bit glum if I lie in bed all day or don't leave the house. But when living with a chronic illness, I must accept that if I say yes to everything and don't give myself time to rest, I'll probably get sick. I've learned this lesson the hard way! I have tried many times to keep up with friends, only to have to take time off work to recover. Fear of missing out can lead to some unwise decisions. That said, it's all about balance — I can't drink green juices and go to bed at 9 p.m. every day. I ...

New Pulmonary Hypertension Definition Clarifies Mortality Risk After Heart Transplant - Pulmonology Advisor

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New Pulmonary Hypertension Definition Clarifies Mortality Risk After Heart Transplant - Pulmonology Advisor New Pulmonary Hypertension Definition Clarifies Mortality Risk After Heart Transplant - Pulmonology Advisor Posted: 04 Sep 2019 12:00 AM PDT The new definition of pulmonary hypertension has demonstrated validity in a study recently published in CHEST , which showed an association between elevated pulmonary vascular resistance (PVR) and increased risk for mortality within 30 days of heart transplant. This risk can be sustained even with lower pulmonary arterial pressures. This retrospective study included 32,465 adult participants (mean age, 55 years), all of whom were given primary heart transplants . Of these, 62% (n=20,208) had pretransplant mean pulmonary arterial pressure (mPAP) of ≥25 mm Hg, while 38% (n=12,257) had mPAP <25 mm Hg. Researchers identified participants using the United Network for Organ Sharing Scientific Reg...

In PAH, RNF213 Gene Variant a Risk Factor for Poor Outcomes, Study Says - Pulmonary Hypertension News

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In PAH, RNF213 Gene Variant a Risk Factor for Poor Outcomes, Study Says - Pulmonary Hypertension News In PAH, RNF213 Gene Variant a Risk Factor for Poor Outcomes, Study Says - Pulmonary Hypertension News Posted: 30 Sep 2019 06:00 AM PDT Patients with pulmonary arterial hypertension (PAH) who carry a specific mutation in the RNF213 gene have poor clinical outcomes and worse response to combination treatments, according to a study from Japan. The study, " Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension ," was published in  The Journal of Heart and Lung Transplantation . A 2018 study found that approximately 10% of the patients with idiopathic PAH have a specific variant in the RNF213 gene — rs112735431, or p.Arg4810Lys — consisting of an amino acid substitution of arginine to lysine in the RNF213 protein. This gene alteration has already been a...

'Disorder' Film Festival Offers Look at Siblings Touched by Rare Diseases - Pulmonary Hypertension News

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&#039;Disorder&#039; Film Festival Offers Look at Siblings Touched by Rare Diseases - Pulmonary Hypertension News &#039;Disorder&#039; Film Festival Offers Look at Siblings Touched by Rare Diseases - Pulmonary Hypertension News Posted: 02 Sep 2019 12:00 AM PDT Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest.     Two entries in November's " Disorder: The Rare Disease Film Festival " will focus on what siblings go through, according to the San Francisco festival's co-founder, Bo Bigelow. Bo Bigelow, left, and Daniel DeFabio, co-founders of "Disorder: The Rare Disease Film Festival." (Photo courtesy of Bo Bigelow) "If you're a sibling of a child with a rare disease, there's so much going on — there's a lot to talk about," said Bigelow, whose 9-year-old daughte...