Issues and Questions Surrounding Screening for Cognitive Impairment in Older Patients. Petersen Ronald C et al. JAMA 2020 Feb (8) 722-724

Hot Topics of the Day|PHGKB


Last Posted: Feb 28, 2020

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• Issues and Questions Surrounding Screening for Cognitive Impairment in Older Patients.
  Petersen Ronald C et al. JAMA 2020 Feb (8) 722-724
• [Direct-to-consumer genetic tests in the consulting room].
  Gerrits Elianne M et al. Nederlands tijdschrift voor geneeskunde 2019 Nov 163
• Assessment of Demographic, Genetic, and Imaging Variables Associated With Brain Resilience and Cognitive Resilience to Pathological Tau in Patients With Alzheimer Disease.
  Ossenkoppele Rik et al. JAMA neurology 2020 Feb
• Predicting sporadic Alzheimer's disease progression via inherited Alzheimer's disease-informed machine-learning.
  Franzmeier Nicolai et al. Alzheimer's & dementia : the journal of the Alzheimer's Association 2020 Feb
• Alzheimer's disease susceptibility gene apolipoprotein e (APOE) and blood biomarkers in UK Biobank (N=395,769).
  A Ferguson et al, MedRXIV, Februray 13, 2020
• Alzheimer disease risk genes: 29 and counting.
  Bertram Lars et al. Nature reviews. Neurology 2019 15(4) 191-192
• Machine Learning Predictive Models Can Improve Efficacy of Clinical Trials for Alzheimer's Disease1,2.
  Ezzati Ali et al. Journal of Alzheimer's disease : JAD 2020 Jan
• Convolution neural network-based Alzheimer's disease classification using hybrid enhanced independent component analysis based segmented gray matter of T2 weighted magnetic resonance imaging with clinical valuation.
  Basheera Shaik et al. Alzheimer's & dementia (New York, N. Y.) 2019 5974-986
• Temporal association of neuropsychological test performance using unsupervised learning reveals a distinct signature of Alzheimer's disease status.
  Joshi Prajakta S et al. Alzheimer's & dementia (New York, N. Y.) 2019 5964-973
• Predicting Amyloid-β Levels in Amnestic Mild Cognitive Impairment Using Machine Learning Techniques.
  Ezzati Ali et al. Journal of Alzheimer's disease : JAD 2019 Dec

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The Case for Remedial Germline Editing—The Long-term View EY Adashi et al, JAMA Health Forum, Ferbuary 27, 2020

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Last Posted: Feb 28, 2020

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• The Case for Remedial Germline Editing—The Long-term View
  EY Adashi et al, JAMA Health Forum, Ferbuary 27, 2020
• Hacking the Cancer Genome: Profiling Therapeutically Actionable Long Non-coding RNAs Using CRISPR-Cas9 Screening.
  Esposito Roberta et al. Cancer cell 2019 35(4) 545-557
• Therapeutic genome editing in cardiovascular diseases.
  Nishiga Masataka et al. Advanced drug delivery reviews 2020 Feb
• Molecular Therapies for Inherited Retinal Diseases-Current Standing, Opportunities and Challenges.
  Vázquez-Domínguez Irene et al. Genes 2019 10(9)
• Super-precise CRISPR tool enhanced by enzyme engineering: Improvements to a method known as base editing could pave the way for safer gene therapies.
  H Ledford, Nature, February 11, 2020
• CRISPR takes on cancer
  J Couzin-Frankel, Science, February 7, 2020
• Step aside CRISPR, RNA editing is taking off: Making changes to the molecular messengers that create proteins might offer flexible therapies for cancer, pain or high cholesterol, in addition to genetic disorders.
  S Reardon, Nature, February 4, 2020
• Prime Time for Genome Editing?
  Urnov Fyodor D et al. The New England journal of medicine 2020 01 (5) 481-484
• Genome Editing for Mucopolysaccharidoses.
  Poletto Edina et al. International journal of molecular sciences 2020 Jan 21(2)
• Applications of genome editing technology in the targeted therapy of human diseases: mechanisms, advances and prospects.
  Li Hongyi et al. Signal transduction and targeted therapy 2020 1

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Smoking, DNA Methylation, and Lung Function: a Mendelian Randomization Analysis to Investigate Causal Pathways. Jamieson Emily et al. American journal of human genetics 2020 Feb

Hot Topics of the Day|PHGKB


Last Posted: Feb 28, 2020

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• Smoking, DNA Methylation, and Lung Function: a Mendelian Randomization Analysis to Investigate Causal Pathways.
  Jamieson Emily et al. American journal of human genetics 2020 Feb
• Aspirin for Prevention of Cardiovascular Disease
  AT Peters et al, JAMA Patient Page, February 18, 2020
• Smoking Cessation: A Report of the Surgeon General
  CDC, February 2020
• Machine Learning for Predicting Complications in Head and Neck Microvascular Free Tissue Transfer.
  Formeister Eric J et al. The Laryngoscope 2020 Jan
• Smoke signals in the DNA of normal lung cells
  Nature News, January 30, 2020
• Tobacco smoking and somatic mutations in human bronchial epithelium.
  Yoshida Kenichi et al. Nature 2020 Jan
• Quit Smoking for Better Health
  CDC, January 2020
• Promoter Hypermethylation of Tumor-Suppressor Genes p16 INK4a , RASSF1A , TIMP3 , and PCQAP/MED15 in Salivary DNA as a Quadruple Biomarker Panel for Early Detection of Oral and Oropharyngeal Cancers.
  Liyanage Chamikara et al. Biomolecules 2019 9(4)
• Reducing cardiovascular risk in patients with familial hypercholesterolemia: Risk prediction and lipid management.
  Miname Marcio H et al. Progress in cardiovascular diseases 62(5) 414-422
• An exploration of smokeless tobacco product nucleic acids: a combined metagenome and metatranscriptome analysis.
  Tyx R E et al. Applied microbiology and biotechnology 2020 Jan 104(2) 751-763

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COVID-19 a Reminder of the Challenge of Emerging Infectious Diseases | NIH: National Institute of Allergy and Infectious Diseases

COVID-19 a Reminder of the Challenge of Emerging Infectious Diseases | NIH: National Institute of Allergy and Infectious Diseases

COVID-19 a Reminder of the Challenge of Emerging Infectious Diseases

February 28, 2020

This transmission electron microscope image shows SARS-CoV-2—also known as 2019-nCoV, the virus that causes COVID-19—isolated from a patient in the U.S. Virus particles are shown emerging from the surface of cells cultured in the lab. The spikes on the outer edge of the virus particles give coronaviruses their name, crown-like.

Credit: NIAID-RML

The emergence and rapid increase in cases of coronavirus disease 2019 (COVID-19), a respiratory illness caused by a novel coronavirus, pose complex challenges to the global public health, research and medical communities, write federal scientists from NIH’s National Institute of Allergy and Infectious Diseases (NIAID) and from the Centers for Disease Control and Prevention (CDC). Their commentary appears in The New England Journal of Medicine. 

COVID-19—New Insights on a Rapidly Changing Epidemic | Global Health | JAMA | JAMA Network

COVID-19—New Insights on a Rapidly Changing Epidemic | Global Health | JAMA | JAMA Network

February 28, 2020

COVID-19—New Insights on a Rapidly Changing Epidemic

Carlos del Rio, MD¹; Preeti N. Malani, MD, MSJ^2,3

Author Affiliations Article Information

JAMA. Published online February 28, 2020. doi:10.1001/jama.2020.3072

Novel lab-on-a-chip blood tests could greatly expand newborn exams for rare diseases | National Heart, Lung, and Blood Institute (NHLBI)

Novel lab-on-a-chip blood tests could greatly expand newborn exams for rare diseases | National Heart, Lung, and Blood Institute (NHLBI)

SBIR Success Stories

Novel lab-on-a-chip blood tests could greatly expand newborn exams for rare diseases

February 25, 2020

Towards the automatic detection of social biomarkers in autism spectrum disorder: introducing the simulated interaction task (SIT) H Drimalla et al, NPJ Digital Medicine, February 27, 2020

Hot Topics of the Day|PHGKB


Last Posted: Feb 29, 2020

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• Towards the automatic detection of social biomarkers in autism spectrum disorder: introducing the simulated interaction task (SIT)
  H Drimalla et al, NPJ Digital Medicine, February 27, 2020
• An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray.
  Bacchelli Elena, et al. Scientific reports 2020 2 (1) 3198
• Vitamin D Receptor Polymorphisms Associated with Autism Spectrum Disorder.
  Guerini Franca Rosa, et al. Autism research : official journal of the International Society for Autism Research 2020 2
• Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.
  Forstner Andreas J, et al. Translational psychiatry 2020 2 (1) 57
• Towards developing a practical artificial intelligence tool for diagnosing and evaluating autism spectrum disorder: A study using multicenter ABIDE II datasets.
  Lu Long et al. JMIR medical informatics 2020 Feb
• Association of Genetic Risks With Autism Spectrum Disorder and Early Neurodevelopmental Delays Among Children Without Intellectual Disability.
  Takahashi Nagahide et al. JAMA network open 2020 Feb 3(2) e1921644
• Fragile X syndrome: clinical presentation, pathology and treatment.
  Salcedo-Arellano María Jimena et al. Gaceta medica de Mexico 2020 156(1) 60-66
• Recent ultra-rare inherited mutations identify novel autism candidate risk genes
  AB Wilfert et al, BIORXIV preprints, February 11, 2020
• Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa).
  Kengne Kamga Karen et al. Genes 2020 Jan 11(2)
• Largest-Ever Genetic Study of Autism Yields New Insights
  NIH Director Blog, February 2020

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