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Gene mutation helped early humans cope with smoke infested caves, but not Neanderthals

Early humans were far better smokers than Neanderthals, and this might have mattered a lot in the end.  
zmescience.com
over 3 years ago
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8

FDA OKs First Liquid Biopsy for Lung Cancer Mutation

The blood-based genetic test is a companion diagnostic for erlotinib and for use in patients with non-small cell lung cancer.  
medscape.com
over 3 years ago
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6

Not All RAS Mutations Mean Thyroid Cancer, New Review Finds

A review of data from 19 studies and the author's own patient population suggest an overinterpretation of the RAS mutation as malignant in cytologically indeterminate thyroid nodules.  
medscape.com
over 3 years ago
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Gene Variant Tied to Lower Non-HDL-Cholesterol Levels, CAD Risk

The ASGR1 mutation's benefit/risk ratio exceeded what would be predicted from its non-HDL-C effect, suggesting its protection "goes beyond the lowering of serum cholesterol," according to researchers.  
medscape.com
over 3 years ago
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1

New diagnostic test and better treatment for multidrug-resistant tuberculosis

New WHO recommendations will speed detection and improve treatment of multidrug resistant tuberculosis (MDR-TB) through use of a new rapid diagnostic test and a shorter, cheaper treatment regimen. The novel diagnostic test, called MTBDRsl, is a DNA-based test that identifies genetic mutations in MDR-TB strains. At less than US$ 1000 per patient, the new treatment regimen can be completed in 9–12 months.  
who.int
over 3 years ago
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ASCO's TAPUR Study: Off-Label Drugs for Actionable Mutations

Dr Edward Kim, a principal investigator in ASCO's TAPUR study, describes the trial's unique approach to evaluating the efficacy of targeted cancer therapies prescribed off-label.  
medscape.com
over 3 years ago
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APC Mutational Mosaicism in Colorectal Adenomatous Polyposis

In up to 50% of polyposis patients, no underlying germline mutation is identified. What role might APC mosaic mutations--below the threshold of routine diagnostics--play in these unexplained cases?  
medscape.com
over 3 years ago
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6

Cancer and Autism Linked

A paradoxical increase in oncogenic mutations, but a markedly reduced cancer risk in individuals with autism, may lead to cancer therapies being 'repurposed' to treat autism, say US scientists.  
medscape.com
over 3 years ago
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'Bad Luck' or Environment? Depends on the Cancer

Another study looks again at the data that were analyzed for contributions from instrinsic cellular factors, such as mutations and environmental factors.  
medscape.com
over 3 years ago
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1

Bordetella pertussis Strain Lacking Two Vaccine Immunogens

Although this pertussis strain lacking pertactin and pertussis toxin is rare, any increased mutation in these vaccine immunogens may have serious implications for the efficacy of current vaccines.  
medscape.com
over 3 years ago
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2

BGB-283: Promising Therapy Targeting RAF and RAS Mutations

A new drug that targets the BRAF family of proteins is also active against some RAS mutations.  
medscape.com
almost 4 years ago
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BIM Deletion and EGFR-TKI Therapy in NSCLC: Meta-analysis

Does this polymorphism contribute to EGFR-TKI resistance in EGFR mutation-positive NSCLC?  
medscape.com
almost 4 years ago
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2

The Cardiology Show From ACC 2016 With Dr Valentin Fuster

HOPE-3 and trials covering transcatheter aortic valves, FH mutations, and mobile health are the main focus of the discussion from a chilly Chicago.  
medscape.com
almost 4 years ago
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0

New Genetic Mutations for Hereditary Women's Cancers

NCCN has added new genetic mutations to be considered when determining risk-management strategies for hereditary breast and ovarian cancers.  
medscape.com
almost 4 years ago
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1

New and emerging targeted therapies for cystic fibrosis

Cystic fibrosis (CF) is a monogenic autosomal recessive disorder that affects about 70 000 people worldwide. The clinical manifestations of the disease are caused by defects in the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The discovery of the CFTR gene in 1989 has led to a sophisticated understanding of how thousands of mutations in the CFTR gene affect the structure and function of the CFTR protein. Much progress has been made over the past decade with the development of orally bioavailable small molecule drugs that target defective CFTR proteins caused by specific mutations. Furthermore, there is considerable optimism about the prospect of gene replacement or editing therapies to correct all mutations in cystic fibrosis. The recent approvals of ivacaftor and lumacaftor represent the genesis of a new era of precision medicine in the treatment of this condition. These drugs are having a positive impact on the lives of people with cystic fibrosis and are potentially disease modifying. This review provides an update on advances in our understanding of the structure and function of the CFTR, with a focus on state of the art targeted drugs that are in development.  
feeds.bmj.com
almost 4 years ago
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15

New and emerging targeted therapies for cystic fibrosis

Cystic fibrosis (CF) is a monogenic autosomal recessive disorder that affects about 70 000 people worldwide. The clinical manifestations of the disease are caused by defects in the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The discovery of the CFTR gene in 1989 has led to a sophisticated understanding of how thousands of mutations in the CFTR gene affect the structure and function of the CFTR protein. Much progress has been made over the past decade with the development of orally bioavailable small molecule drugs that target defective CFTR proteins caused by specific mutations. Furthermore, there is considerable optimism about the prospect of gene replacement or editing therapies to correct all mutations in cystic fibrosis. The recent approvals of ivacaftor and lumacaftor represent the genesis of a new era of precision medicine in the treatment of this condition. These drugs are having a positive impact on the lives of people with cystic fibrosis and are potentially disease modifying. This review provides an update on advances in our understanding of the structure and function of the CFTR, with a focus on state of the art targeted drugs that are in development.  
feeds.bmj.com
almost 4 years ago
Preview
0
1

New and emerging targeted therapies for cystic fibrosis

Cystic fibrosis (CF) is a monogenic autosomal recessive disorder that affects about 70 000 people worldwide. The clinical manifestations of the disease are caused by defects in the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The discovery of the CFTR gene in 1989 has led to a sophisticated understanding of how thousands of mutations in the CFTR gene affect the structure and function of the CFTR protein. Much progress has been made over the past decade with the development of orally bioavailable small molecule drugs that target defective CFTR proteins caused by specific mutations. Furthermore, there is considerable optimism about the prospect of gene replacement or editing therapies to correct all mutations in cystic fibrosis. The recent approvals of ivacaftor and lumacaftor represent the genesis of a new era of precision medicine in the treatment of this condition. These drugs are having a positive impact on the lives of people with cystic fibrosis and are potentially disease modifying. This review provides an update on advances in our understanding of the structure and function of the CFTR, with a focus on state of the art targeted drugs that are in development.  
feeds.bmj.com
almost 4 years ago
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6

An Ashkenazi-Jewish Founder Mutation in the Hikeshi Gene

This study of infants with a mutation of the Hikeshi gene suggests a link between leukodystrophy and abnormal heat-shock stress response.  
medscape.com
almost 4 years ago
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HDL Cholesterol 'Bad'? Gene Variant May Increase CHD Risk

The rare gene mutation impairs function of SR-BI, the major receptor for HDL. "It's not necessarily that high HDL is doing bad things, it's the loss in SR-BI function that's bad," say researchers.  
medscape.com
almost 4 years ago
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Prevalence, Clinical Characteristics, and Prognosis of GATA2-related Myelodysplastic Syndromes in Children and Adolescents: Abstract and Introduction

Abstract and Introduction: In pediatric myelodysplastic syndrome, germline GATA2 mutations account for 15% of advanced and 7% of all primary cases and do not affect overall survival.  
medscape.org
almost 4 years ago