HLBS-PopOmics - Heart, Lung, Blood, and Sleep Disorders Knowledge Base in Population Genomics -

Specific PHGKB|HLBS|PHGKB

HLBS-PopOmics

- Heart, Lung, Blood, and Sleep Disorders Knowledge Base in Population Genomics -

What's New

Last Posted: Oct 21, 2018

---

• Breathing New Life into Interstitial Lung Disease in Rheumatoid Arthritis  
  PK Gergersen et al, NEJM, October 20, 2018
• Mutations in the HFE gene can be associated with increased lung disease severity in cystic fibrosis.  
  Smith Daniel J et al. Gene 2018 Oct 12-17
• New therapies pack a triple-drug punch to treat cystic fibrosis  
  A Cunningham, Science News, October 19, 2018
• Triple CFTR Modulator Therapy for Cystic Fibrosis  
  F Holguin, NEJM, October 18, 2018
• VX-445–Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles  
  D Keating et al, NEJM, October 18, 2018
• A Cost-Effectiveness Analysis of a Pilot Neonatal Screening Program for Sickle Cell Anemia in the Republic of Angola.  
  McGann Patrick T et al. The Journal of pediatrics 2015 Dec 167(6) 1314-9
• Atrial Fibrillation and Central Nervous Complications in Liver Transplanted Hereditary Transthyretin Amyloidosis Patients.  
  Wange Niklas et al. Transplantation 2018 102(2) e59-e66
• Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia.  
  Bogliolo Massimo et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 20(4) 458-463
• Cardiac Toxicities in the Era of Precision Medicine: Underlying Risk Factors, Targeted Therapies, and Cardiac Biomarkers.  
  Blaes Anne H et al. American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting 2018 May (38) 764-774
• ClinVar database of global familial hypercholesterolemia-associated DNA variants.  
  Iacocca Michael A et al. Human mutation 2018 Nov 39(11) 1631-1640
• Correlation between HLA-DQB1*06:02 and narcolepsy with and without cataplexy: approving a safe and sensitive genetic test in four major ethnic groups. A systematic meta-analysis.  
  Capittini C et al. Sleep medicine 2018 Sep 52150-157
• Detecting familial hypercholesterolemia earlier in life by actively searching for affected children:The DECOPIN project.  
  Ibarretxe Daiana et al. Atherosclerosis 2018 Oct 278210-216
• Diabetes is associated with an increased risk of cardiovascular disease in patients with familial hypercholesterolemia.  
  Paquette Martine et al. Journal of clinical lipidology 2018 Sep
• Estimates of utility weights in hemophilia: implications for cost-utility analysis of clotting factor prophylaxis.  
  Grosse Scott D et al. Expert review of pharmacoeconomics & outcomes research 2015 Apr 15(2) 267-83
• Familial Hypercholesterolaemia Diagnosis and Management.  
  Alonso Rodrigo et al. European cardiology 2018 Aug 13(1) 14-20