Discover and read the best of Twitter Threads about #snrtg
Most recents (23)
Pediatric🧬Inborn Error of Immunity⚠️
*⃣ "mutations in RIPK1 are
a 🆕monogenic form of IBD"
Great work by Israeli 🇮🇱, Palestinian 🇵🇸 & US 🇺🇸 researchers
frontiersin.org/articles/10.33… #bioinformatics #datascience #iot #snrtg #openscience #raredisease #gastro #genomics #immunology
*⃣ "mutations in RIPK1 are
a 🆕monogenic form of IBD"
Great work by Israeli 🇮🇱, Palestinian 🇵🇸 & US 🇺🇸 researchers
frontiersin.org/articles/10.33… #bioinformatics #datascience #iot #snrtg #openscience #raredisease #gastro #genomics #immunology
Atypical, severe, immuno- phenotype in young patient(s)' ❓
➡️Think🤔 genetic
⬇️
Sequence her/his🧬DNA.
⬇️
Seek 🔎clues in the genome!
➡️Think🤔 genetic
⬇️
Sequence her/his🧬DNA.
⬇️
Seek 🔎clues in the genome!
Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬.
🆕: Severe, atypical, post-🦠- #COVID19
neurological🧠 sequelae
💉responsive to IVIg
…mentdisorders.onlinelibrary.wiley.com/doi/10.1002/md… #serverless #womeninstem #openscience #scicomm #snrtg #LongCovid #neurology #immunology
neurological🧠 sequelae
💉responsive to IVIg
…mentdisorders.onlinelibrary.wiley.com/doi/10.1002/md… #serverless #womeninstem #openscience #scicomm #snrtg #LongCovid #neurology #immunology
🙏KUDOS and respect to this brave gentleman for consenting to the publication of this video and giving a glimpse into one of the many ways in which 🦠Sars-Cov-2 is affecting the🧠brains of those it infects.
#openscience #scicomm
#openscience #scicomm
Protect yourself from 🦠Sars-Cov-2,
please.
It's messing up 🧠 brains.
please.
It's messing up 🧠 brains.
🆕: ⚠️Not so mild 🦠#COVID19
in this immunosuppressed patient
- development of atypical, severe, acute 🧠 meningitis
ijidonline.com/article/S1201-… #bioinformatics #womeninstem #openscience #scicomm #snrtg #genomics #immunology
in this immunosuppressed patient
- development of atypical, severe, acute 🧠 meningitis
ijidonline.com/article/S1201-… #bioinformatics #womeninstem #openscience #scicomm #snrtg #genomics #immunology
This patient could not have wound up in better hands:
National Institute of Infectious Diseases
“Lazzaro Spallanzani” IRCCS- Rome, 🇮🇹 Italy
👍 great job treating this patient,
sequencing and monitoring🧬the 🦠strain,
...and saving her life
#openscience #scicomm
National Institute of Infectious Diseases
“Lazzaro Spallanzani” IRCCS- Rome, 🇮🇹 Italy
👍 great job treating this patient,
sequencing and monitoring🧬the 🦠strain,
...and saving her life
#openscience #scicomm
I have found only a handful of reports in literature of
🦠Sars-Cov-2 induced🧠 meningitis. I thought there would be more. Caveat: it's exceedingly rare, but it does happen.
🦠Sars-Cov-2 induced🧠 meningitis. I thought there would be more. Caveat: it's exceedingly rare, but it does happen.
🆕Newly-described in an infant:
Recurrent respiratory🦠infections requiring
mechanical ventilation;
interstitial-🫁-lung disease; pancytopenia;
hepatic failure, brain atrophy, +
ojrd.biomedcentral.com/articles/10.11… #bioinformatics #snrtg #openscience #immunology #raredisease
Recurrent respiratory🦠infections requiring
mechanical ventilation;
interstitial-🫁-lung disease; pancytopenia;
hepatic failure, brain atrophy, +
ojrd.biomedcentral.com/articles/10.11… #bioinformatics #snrtg #openscience #immunology #raredisease
Exome seq revealed novel compound heterozygous variants in FARSA: P347L & R475Q - in a patient who initially presented neonatal-onset failure to thrive, liver dysfunction, and frequent respiratory infections.
Died at age 28-months of progressive hepatic and respiratory failure.
Died at age 28-months of progressive hepatic and respiratory failure.
Great job in Dx and treating this infant by this team of 🧬disease-detectives from the
🇰🇷 'Korean Undiagnosed Disease Program,'
and Seoul National University,
though, sadly, the outcome was fatal.
🇰🇷 'Korean Undiagnosed Disease Program,'
and Seoul National University,
though, sadly, the outcome was fatal.
⚠️Beware🦠Omicron:
It doesn't give *⃣ 2 shits *⃣ if you've been infected
with prior variants
...and get💉vaxxed!
wwwnc.cdc.gov/eid/article/28… #bioinformatics #serverless #openscience #snrtg #scicomm #immunology
It doesn't give *⃣ 2 shits *⃣ if you've been infected
with prior variants
...and get💉vaxxed!
wwwnc.cdc.gov/eid/article/28… #bioinformatics #serverless #openscience #snrtg #scicomm #immunology
*⃣ Sorry - I posted the link to the graph
This is the link to the article itself:
wwwnc.cdc.gov/eid/article/28…
This is the link to the article itself:
wwwnc.cdc.gov/eid/article/28…
The best protection against infection
and/or reinfection with Omicron🦠:
Vaxx/boost💉➕ masking 😷
and/or reinfection with Omicron🦠:
Vaxx/boost💉➕ masking 😷
This will likely have incalculable
repercussions in lives lost.
reut.rs/3ze7sj3 #globalhealth #snrtg #openscience #scicomm #medtwitter #VaccinesSaveLives
repercussions in lives lost.
reut.rs/3ze7sj3 #globalhealth #snrtg #openscience #scicomm #medtwitter #VaccinesSaveLives
Expect a likely resurgence of vaccine-preventble pediatric infectious, communicable diseases - according to this study...measles, rubella, mumps, pertussis, polio, rotavirus...
Likely causes of this backslide in childhood vaccination:
▪️ global vaccine-"fatigue"
▪️ hyper-focused attention on one disease (🦠
SarsCov2), while virtually ignoring all others.
▪️ global vaccine-"fatigue"
▪️ hyper-focused attention on one disease (🦠
SarsCov2), while virtually ignoring all others.
🦠This is dreaded
"Marburg Virus"🔬 (Video: PLOS)
- case-fatality-rate up to 9⃣0⃣%
🩸hemorrhaging from all orifices leads to death
*⃣ 2 patients in Ghana have just tested positive aljazeera.com/news/2022/7/8/… #scicomm #openscience #medtwitter #snrtg #virology
"Marburg Virus"🔬 (Video: PLOS)
- case-fatality-rate up to 9⃣0⃣%
🩸hemorrhaging from all orifices leads to death
*⃣ 2 patients in Ghana have just tested positive aljazeera.com/news/2022/7/8/… #scicomm #openscience #medtwitter #snrtg #virology
Marburg Virus is classified as a hemorrhagic fever virus. It is closely related to Ebola Virus.
Some scary viruses out there beyond Sars-Cov-2.
Some scary viruses out there beyond Sars-Cov-2.
Ghana reports first-ever suspected cases of Marburg virus disease
downtoearth.org.in/news/africa/gh… #openscience #scicomm
downtoearth.org.in/news/africa/gh… #openscience #scicomm
Quite remarkable results in this
5 year-old suffering severe post-effects of
a rare form of autoimmune 🧠encephalitis
journals.sagepub.com/doi/10.1177/09… #snrtg #medtwitter #openscience #scicomm #neurology #immunology #stemcell
5 year-old suffering severe post-effects of
a rare form of autoimmune 🧠encephalitis
journals.sagepub.com/doi/10.1177/09… #snrtg #medtwitter #openscience #scicomm #neurology #immunology #stemcell
"The patient was in a vegetative state when she was first admitted to hospital and received cell therapy as a last resort."
...she is now ready to attend school.
...she is now ready to attend school.
These results need to be replicated in additional patients, however initial results look extremely compelling.
🦠9⃣-MONTH Sars-Cov-2 infection in an
immunocompromised patient
⚠️ with more than 20 🧬viral mutations
academic.oup.com/cid/advance-ar… #bioinformatics #openscience #scicomm #snrtg #immunology #genomics
immunocompromised patient
⚠️ with more than 20 🧬viral mutations
academic.oup.com/cid/advance-ar… #bioinformatics #openscience #scicomm #snrtg #immunology #genomics
Getting 💉vaccinated💉: 1⃣ protects the immunocompromised from SarsCov2, and 2⃣: protects ALL OF US from the emergence of new🦠variants🧬
Our lives our interconnected. Shielding the most vulnerable is in our collective best-interest.
. 🧬Exciting stuff! 🧬
Hope of a genetic-"fix" for youngsters with a rare blood disorder
newscientist.com/article/232451… #bioinformatics #snrtg #scicomm #openscience #technology #biotech #genomics #raredisease
Hope of a genetic-"fix" for youngsters with a rare blood disorder
newscientist.com/article/232451… #bioinformatics #snrtg #scicomm #openscience #technology #biotech #genomics #raredisease
The clinical trial results which prompted extending CRISPR treatment to kids for
🧬 Sickle-cell and Beta-Thalassemia🩸
bit.ly/3n4MwUO #openscience #scicomm
🧬 Sickle-cell and Beta-Thalassemia🩸
bit.ly/3n4MwUO #openscience #scicomm
🧵(thread 3/3)
...more 🧬✂️DNA-editing hope:
1⃣ Inborn Errors of Immunity : frontiersin.org/articles/10.33… #bioinformatics #biotech #WomenInSTEM #openscience #scicomm
2⃣ 'CF', ... 🫁 ➕: frontiersin.org/articles/10.33… #immunology #genomics #raredisease
...more 🧬✂️DNA-editing hope:
1⃣ Inborn Errors of Immunity : frontiersin.org/articles/10.33… #bioinformatics #biotech #WomenInSTEM #openscience #scicomm
2⃣ 'CF', ... 🫁 ➕: frontiersin.org/articles/10.33… #immunology #genomics #raredisease
My country 🇮🇱:
in new full-blown #COVID19 🦠wave
⚠️New cases up 7⃣0⃣0⃣% in past 3 weeks
hospitalizations up 90%; positivity rate: 39%
datadashboard.health.gov.il/COVID-19/gener… #openscience #scicomm #snrtg
in new full-blown #COVID19 🦠wave
⚠️New cases up 7⃣0⃣0⃣% in past 3 weeks
hospitalizations up 90%; positivity rate: 39%
datadashboard.health.gov.il/COVID-19/gener… #openscience #scicomm #snrtg
🇮🇱 COVID-19🦠:
Just In ⚠️
Our Health Ministry has instructed
Israeli hospitals to re-open shuttered COVID wards.
#CovidIsNotOver
Just In ⚠️
Our Health Ministry has instructed
Israeli hospitals to re-open shuttered COVID wards.
#CovidIsNotOver
🇮🇱🦠A vote to reinstate
indoor masking 😷mandate
could come as early as tomorrow (Tuesday) morning.
indoor masking 😷mandate
could come as early as tomorrow (Tuesday) morning.
. 🦠#COVID19 ⚠️F*CKing⚠️with the
brain🧠and body
of this 15 year-old boy. Real badly.
onlinelibrary.wiley.com/doi/10.1002/cc… #WomenInSTEM #openscience #scicomm #snrtg #immunology #neurology
brain🧠and body
of this 15 year-old boy. Real badly.
onlinelibrary.wiley.com/doi/10.1002/cc… #WomenInSTEM #openscience #scicomm #snrtg #immunology #neurology
COVID-19 is NOT "just like the flu."
COVID-19 is NOT "just like the flu."
COVID-19 is NOT "just like the flu."
COVID-19 is NOT "just like the flu."
COVID-19 is NOT "just like the flu."
"Cerebellar examination revealed impaired finger to nose, heel to shin, and rapid alternative movements. Gait was ataxic and he could not walk without help."
* in a previously healthy young man
* in a previously healthy young man
. 🦠COVID is not over ❗️
⬆️Big recent increases here in my country 🇮🇱 ; a fresh new wave.
1⃣new cases: gov.il/en/departments… 2⃣hospitalizations: timesofisrael.com/israel-sees-sh… #COVID19 #openscience #rstats #serverless #snrtg #Israel
⬆️Big recent increases here in my country 🇮🇱 ; a fresh new wave.
1⃣new cases: gov.il/en/departments… 2⃣hospitalizations: timesofisrael.com/israel-sees-sh… #COVID19 #openscience #rstats #serverless #snrtg #Israel
I was not expecting a new COVID wave until at least Autumn. I was wrong.
🦠SarsCov2 is unpredictable. It does not abide by seasons.
🦠SarsCov2 is unpredictable. It does not abide by seasons.
The figure of new cases could be a vast underestimation:
"Israel's Covid czar: Likely up to 20,000 cases
every day in current outbreak"
i24news.tv/en/news/corona… #scicomm #COVID19 #Israel #openscience
"Israel's Covid czar: Likely up to 20,000 cases
every day in current outbreak"
i24news.tv/en/news/corona… #scicomm #COVID19 #Israel #openscience
One of the most devastating and heart-wrenching of the
~7,000 known rare diseases
A novel mutation🧬identified in
*⃣ "Epidermolysis Bullosa"*⃣
bmcmedgenomics.biomedcentral.com/articles/10.11… #bioinformatics #openscience #100daysofcode #snrtg #genomics #raredisease
~7,000 known rare diseases
A novel mutation🧬identified in
*⃣ "Epidermolysis Bullosa"*⃣
bmcmedgenomics.biomedcentral.com/articles/10.11… #bioinformatics #openscience #100daysofcode #snrtg #genomics #raredisease
Young patients with Epidermolysis Bullosa are known as
"Butterfly Children"
A novel gene therapy has shown dramatic and promising results for some of them:
science.org/content/articl… #openscience #biotech #scicomm
"Butterfly Children"
A novel gene therapy has shown dramatic and promising results for some of them:
science.org/content/articl… #openscience #biotech #scicomm
Epidemolysis Bullosa: frequently referred to as
'The worst disease you've never heard of'
chron.com/life/health/ar… #openscience #raredisease #scicomm
'The worst disease you've never heard of'
chron.com/life/health/ar… #openscience #raredisease #scicomm
⚠️Potentially dangerous
new 🦠#COVID19 variants🧬
▪️The pandemic won't end until we prevent this phenomenon
❗️Get💉 vaxxed to shield & protect the immunocompromised
ijidonline.com/article/S1201-… #bioinformatics #WomenInSTEM #openscience #snrtg #immunology #genomics #raredisease
new 🦠#COVID19 variants🧬
▪️The pandemic won't end until we prevent this phenomenon
❗️Get💉 vaxxed to shield & protect the immunocompromised
ijidonline.com/article/S1201-… #bioinformatics #WomenInSTEM #openscience #snrtg #immunology #genomics #raredisease
. "NOBODY is safe from the virus until
we are ALL safe from the virus"
~Dr. Tedros Ghebreyesus (WHO Director General)
we are ALL safe from the virus"
~Dr. Tedros Ghebreyesus (WHO Director General)
Viruses🦠do strange things when unchallenged for long periods of times in hosts.
Unfortunately mutating🧬is one of those things.
Unfortunately mutating🧬is one of those things.
New 🧬genetic loci linked to #COVID19 🦠susceptibility
♂️ ♀️ with gender specificity
- Results from a huge 🇪🇸 Spanish GWAS study
academic.oup.com/hmg/advance-ar… #bioinformatics #openscience #scicomm #immunology #virology #snrtg #genomics
♂️ ♀️ with gender specificity
- Results from a huge 🇪🇸 Spanish GWAS study
academic.oup.com/hmg/advance-ar… #bioinformatics #openscience #scicomm #immunology #virology #snrtg #genomics
🦠🧬'...variants in 3p21.31 and 21q22.11 loci only among males ♂️; and variants in 9q21.32 near TLE1 only among females ♀️'
Evidence continues to accumulate that:
at least *⃣ for some *⃣ , susceptibility to severe and fatal 🦠COVID may lie in the genes🧬.
at least *⃣ for some *⃣ , susceptibility to severe and fatal 🦠COVID may lie in the genes🧬.
Signs of a new
COVID-19 wave🦠
Here in 🇮🇱 Israel
⬆️Quadrupling ➕of new cases in past week
😷Indoor masking mandate could return (source: Haaretz)
gov.il/en/departments… #CovidIsntOver #snrtg #serverless #openscience #COVID19 #rstats #Israel
COVID-19 wave🦠
Here in 🇮🇱 Israel
⬆️Quadrupling ➕of new cases in past week
😷Indoor masking mandate could return (source: Haaretz)
gov.il/en/departments… #CovidIsntOver #snrtg #serverless #openscience #COVID19 #rstats #Israel
🦠COVID-19 🇮🇱:
⬆️New daily cases had been in the 1,100 to 1,600
range for the past 3 months. Now a very dramatic,
very sudden upturn.
⬆️29.77% positive test rate today.
⬆️ROI at 1.44
Not particularly good signs.
⬆️New daily cases had been in the 1,100 to 1,600
range for the past 3 months. Now a very dramatic,
very sudden upturn.
⬆️29.77% positive test rate today.
⬆️ROI at 1.44
Not particularly good signs.
Our 🇮🇱 Health Ministry is already recommending that people begin to mask again indoors.
😷A debate to require indoor masking again will commence in the coming days against the dramatic rise in new cases.
😷A debate to require indoor masking again will commence in the coming days against the dramatic rise in new cases.
New clues as to why
Common Variable Immunodeficiency patients
(like me 👤) may have non-protective #COVID19
immunity, despite being 💉fully-vaxxed
mdpi.com/2073-4409/11/1… #womeninSTEM single cell #openscience #bigdata #immunology #snrtg
Common Variable Immunodeficiency patients
(like me 👤) may have non-protective #COVID19
immunity, despite being 💉fully-vaxxed
mdpi.com/2073-4409/11/1… #womeninSTEM single cell #openscience #bigdata #immunology #snrtg
"36% of CVID patients did not produce anti-SARS-CoV-2 IgG or IgA antibodies.
Non responders had lower peripheral blood lymphocyte counts, circulating naïve and central memory T-cells, low CD40L expression on the CD4+CD45+RO+ and CD8+CD45+RO+ T-cells, high frequencies of TNFα..."
Non responders had lower peripheral blood lymphocyte counts, circulating naïve and central memory T-cells, low CD40L expression on the CD4+CD45+RO+ and CD8+CD45+RO+ T-cells, high frequencies of TNFα..."
Fellow Common Variable Immunodeficiency patients:
Vaxxed💉and boosted💉does not necessarily mean
protected from 🦠Sars-Cov2. Wear😷mask.
Vaxxed💉and boosted💉does not necessarily mean
protected from 🦠Sars-Cov2. Wear😷mask.
“It was quite a surprise for us to find that this gene is a
critical part of our immune system"
_News: utsouthwestern.edu/newsroom/artic… #bioinformatics single cell #openscience #scicomm #snrtg
_Journal: science.org/doi/10.1126/sc… #immunology #genomics #raredisease
critical part of our immune system"
_News: utsouthwestern.edu/newsroom/artic… #bioinformatics single cell #openscience #scicomm #snrtg
_Journal: science.org/doi/10.1126/sc… #immunology #genomics #raredisease
"RNA 🧬exosome is crucial for B cell development,
➡️and defects can lead to severe human disease."
Mutations in the SKIV2L gene are associated with a severe inherited disorder, trichohepatoenteric syndrome (THES), with multisystem involvement but unknown disease mechanism."
➡️and defects can lead to severe human disease."
Mutations in the SKIV2L gene are associated with a severe inherited disorder, trichohepatoenteric syndrome (THES), with multisystem involvement but unknown disease mechanism."
Genotypes, phenotypes,
and faces of "Trichohepatoenteric Syndrome"
- some of the earliest known cases
cell.com/action/showPdf… #openscience #bioinformatics #scicomm
and faces of "Trichohepatoenteric Syndrome"
- some of the earliest known cases
cell.com/action/showPdf… #openscience #bioinformatics #scicomm
Fatal ⚠️Inborn Error of Immunity🧬
"We present the first reported case of progressive multifocal leukoencephalopathy due to a mutation in the RAC2 gene"
jmedicalcasereports.biomedcentral.com/articles/10.11… #bioinformatics #openscience #snrtg #genomics #raredisease #immunology
"We present the first reported case of progressive multifocal leukoencephalopathy due to a mutation in the RAC2 gene"
jmedicalcasereports.biomedcentral.com/articles/10.11… #bioinformatics #openscience #snrtg #genomics #raredisease #immunology
"PML has been reported as a fatal complication in 26 patients with Primary Immunodefiiency due to various gene mutations. Our patient is the first case reported with PML due to mutations in the RAC2 gene."
Progressive Multifocal Leukoencephalopathy (PML):
▪️ rare, oft-times fatal disease resulting in destruction of the brain's white matter
🦠strongly associated with exposure to 'John Cunningham Polyomavirus'"
sciencedirect.com/topics/medicin… #openscience #scicomm
▪️ rare, oft-times fatal disease resulting in destruction of the brain's white matter
🦠strongly associated with exposure to 'John Cunningham Polyomavirus'"
sciencedirect.com/topics/medicin… #openscience #scicomm
Sars-Cov-2 and the brain:
🧠Encephalopathy and
sudden-onset ⚠️Parkinson's* ⚠️symptoms
...in a 31 year-old man
e-jmd.org/upload/jmd-210… #WomenInSTEM #iot #snrtg #openscience #scicomm
🧠Encephalopathy and
sudden-onset ⚠️Parkinson's* ⚠️symptoms
...in a 31 year-old man
e-jmd.org/upload/jmd-210… #WomenInSTEM #iot #snrtg #openscience #scicomm
Not "just like the flu"
Please💉get vaccinated💉
Please💉get vaccinated💉
"He was disorientated but able to follow simple
commands. He had involuntary jaw opening with slow rhythmic movements of his lower facial muscles at rest, which also interfered with his speech. He had reduced eye blinking, hypometric horizontal saccade and jerky pursuit."
commands. He had involuntary jaw opening with slow rhythmic movements of his lower facial muscles at rest, which also interfered with his speech. He had reduced eye blinking, hypometric horizontal saccade and jerky pursuit."
A *brutal* snapshot of #COVID19
in cancer patients
⚠️75 of 416 patients died
*⃣ 61.3% of these deaths were due to
COVID-related complications
mdpi.com/2072-6694/14/9… #scicomm #snrtg #openscience #immunology #oncology #immunocompromised
in cancer patients
⚠️75 of 416 patients died
*⃣ 61.3% of these deaths were due to
COVID-related complications
mdpi.com/2072-6694/14/9… #scicomm #snrtg #openscience #immunology #oncology #immunocompromised
Please 💉get vaccinated💉
to protect yourself
AND the immunocompromised
from Sars-Cov-2.
to protect yourself
AND the immunocompromised
from Sars-Cov-2.
The immunocompromised, immunosuppressed, and immunodeficient are taking a beating from this virus.
A f-cking beating.
A f-cking beating.
🦠#COVID19 infection
*⃣ and reinfection *⃣
in a young⚠️immunocompromised ⚠️boy
fighting rare cancer
A 4⃣5⃣0⃣ battle for survival - he died
journals.lww.com/pidj/Fulltext/… #bioinformatics #openscience #snrtg #scicomm #immunology #raredisease
*⃣ and reinfection *⃣
in a young⚠️immunocompromised ⚠️boy
fighting rare cancer
A 4⃣5⃣0⃣ battle for survival - he died
journals.lww.com/pidj/Fulltext/… #bioinformatics #openscience #snrtg #scicomm #immunology #raredisease
Immunocompromised patients,
- like kids fighting cancer,
are depending on *you* for protection.
Please💉get vaccinated💉
- like kids fighting cancer,
are depending on *you* for protection.
Please💉get vaccinated💉
I meant to write a '450 DAY' battle for survival.
