@Primary_Immune 1 year ago
🆕COVID-19 🦠in a large cohort of "Inborn Errors of Immunity" / Primary Immunodeficiency patients. - via NYC's Mount Sinai Medical Center 3% overall fatality-rate https://www.frontiersin.org/articles/10.3389/fimmu.2022.1035571/full #bioinformatics #scicomm #openscience #snrtg #datascience #iot #raredisease #immunology https://t.co/pq26puUWOM
@Primary_Immune 2 years ago
#COVID19 in adult "hem-onc" patients: A big cohort study comprising 132 medical centers in 32 countries https://jhoonline.biomedcentral.com/articles/10.1186/s13045-021-01177-0 #python #bigdata #openscience #snrtg #scicomm #hematology #oncology #immunology https://t.co/BSVCmjAWTH
@Primary_Immune 2 years ago
"In a study of 11 medical-mystery patients, an international team of researchers has discovered a new and unique form of amyotrophic lateral sclerosis pediatric-onset (ALS)" https://www.ninds.nih.gov/News-Events/News-and-Press-Releases/Press-Releases/Scientists-discover-new-genetic-form-ALS-children #bioinformatics #bigdata #itrtg #scicomm #openscience #genomics #raredisease https://t.co/TOqH4vXzuJ
@Primary_Immune 3 years ago
🧬 A beautiful, recent genomic sequencing study in a "medically-complex" cohort of 138 pediatric patients - novel variants - ultra-rare DXs - 31% diagnostic yield (!) https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2770753 #snrtg #rstats #bioinformatics #openscience #datascience #genomics #raredisease https://t.co/x6ppeM7GRo
@Primary_Immune 3 years ago
A new immuno-genomic variant enters medical literature... ...and life and death hanging in the balance for rare #PrimaryImmunodeficiency patients https://onlinelibrary.wiley.com/doi/abs/10.1111/petr.13808 #rstats #datascience #openscience #bigdata #immunology #genomics #raredisease https://t.co/U4by2LYNE4
@Primary_Immune 3 years ago
. "Med Ed" in Immunology The case for case-reports to enhance knowledge and curiosity in MDs and medical students 🧬especially cases of #RareDisease patients :-) https://www.frontiersin.org/articles/10.3389/fimmu.2020.01756/abstract #iot #itrtg #MedEd #openscience #bigdata #immunology #PrimaryImmunodeficiency #genomics https://t.co/mJnv7iAwxV
@Primary_Immune 3 years ago
A table summary of: -Dx and symptoms -Rx/Tx protocols -mortality vs survival of the 7 latest #PrimaryImmunodeficiency patients with COVID-19 in medical literature (from last article in tweet thread #iot #rstats #linux #bigdata #Covid_19 #covid19 #immunology #raredisease https://t.co/6elVJSYxeJ
@Primary_Immune 3 years ago
Thread UPDATE: 7 additional #PrimaryImmunodeficiency patients diagnosed with #COVID19 described in medical literature *The paper ➡️ https://www.sciencedirect.com/science/article/pii/S0091674920305571 #linux #technology #iot #rstats #COVID__19 #bigdata #immunology #CVID #raredisease https://t.co/fFyZQVqWOC
@Primary_Immune 4 years ago
Genomic screening of pediatric #sepsis patients in the search for underlying #PrimaryImmunodeficiency disorders ...intriguing immunological / medical detectivism https://academic.oup.com/cid/advance-article/doi/10.1093/cid/ciaa290/5809292 #linux #rstats #technology #snrtg #iot #bigdata #hematology #immunology #genomics #raredisease https://t.co/zq5SiF7SpV
@Primary_Immune 6 years ago
Brave, Pioneering Patients Advance Medicine: Thank YOU @christiansings for Paving the Way for Others! #SNRTG #OpenScience #RareDisease #GeneTherapy #blindness #BigData #DataScience #genomics #science #technology #tech #genetics #ITRTG #INSPIRATION! https://t.co/ZXwvWpAMmF