Yam Code
Sign up
Login
New paste
Home
Trending
Archive
English
English
Tiếng Việt
भारत
Sign up
Login
New Paste
Browse
m the perspective of the French healthcare payer.RUNX1 associated familial platelet disorder (FPD) is a rare autosomal dominant hematologic disorder characterized by thrombocytopenia and/or altered platelet function. There is an increased propensity to develop myeloid malignancy (MM) - acute myeloid leukemia, myeloproliferative neoplasms or myelodysplastic syndrome often in association with secondary somatic variants in other genes. To date, 23 FPD-MM pediatric cases have been reported worldwide. Here, we present two new kindreds with novel RUNX1 pathogenic variants in which children are probands. The first family is a daughter/mother diad, sharing a heterozygous frameshift variant in RUNX1 gene (c.501delT p.Ser167Argfs*9). The daughter, age 13 years, presented with features resembling juvenile myelomonocytic leukemia - severe anemia, thrombocytopenia, high white cell count with blast cells, monocytosis, increased nucleated red cells and had somatic mutations with high allele burden in CUX1, PHF6, and SH2B3 genes. She also had increased fetal hemoglobin and increased LIN28B expression. The mother, who had a long history of hypoplastic anemia, had different somatic mutations- a non-coding mutation in CUX1 but none in PHF6 or SH2B3. Her fetal hemoglobin and LIN28B expression were normal. In the second kindred, the proband, now 4 years old with thrombocytopenia alone, was investigated at 3 months of age for persistent neonatal thrombocytopenia with large platelets. Molecular testing identified a heterozygous intragenic deletion in RUNX1 encompassing exon 5. His father is known to have increased bruising for several years but is unavailable for testing. These two cases illustrate the significance of secondary mutations in the development and progression of RUNX1-FPD to MM. To evaluate the efficacy of B cell depletion therapy with the chimeric mouse/human anti-CD20 monoclonal antibody rituximab for refractory chronic recurrent granulomatous uveitis associated with Vogt-Koyanagi-Harada (VKH) disease. Retrospective study of 9 patients (18 eyes) who failed to respond to conventional combination immunosuppressive therapy. All the patients received 3 rituximab infusions. The follow-up period after initiation of rituximab therapy ranged from 9 to 36months (mean ±SD, 19.2±10.1). All patients achieved remission and visual acuity significantly improved ( <.001). Rituximab provided corticosteroid-sparing effect along with control of inflammation. No rituximab-related complications were observed. Rituximab is effective for the treatment of refractory chronic recurrent granulomatous uveitis associated with VKH disease. Rituximab is effective for the treatment of refractory chronic recurrent granulomatous uveitis associated with VKH disease. To review the available evidence supporting the validity of algorithms to identify asthma patients in healthcare administrative databases. A systematic literature search was conducted on multiple databases from inception to March 2020 to identify studies that reported the validity of case-finding asthma algorithms applied to healthcare administrative data. Following an initial screening of abstracts, two investigators independently assessed the full text of studies which met the pre-determined eligibility criteria. https://www.selleckchem.com/products/CX-3543.html Data on study population and algorithm characteristics were extracted. A revised version of the Quality Assessment of Diagnostic Accuracy Studies tool was used to evaluate the risk of bias and generalizability of studies. A total of 20 studies met the eligibility criteria. Algorithms which incorporated ≥1 diagnostic code for asthma over a 1-year period appeared to be valid in both adult and pediatric populations (sensitivity ≥ 85%; specificity ≥ 89%; PPV ≥ 70%). The validity was enhanced when. We assessed the knowledge of, attitude toward antimicrobial resistance (AMR) and practice of antimicrobial stewardship (AMS) among physicians in Nigeria to provide future guidance to the Nigerian National Action Plan for AMR. A descriptive cross-sectional questionnaire-based study explored the physicians' self-reported practice of antibiotic prescribing, knowledge, attitude, and practice of AMR and components of ASPs. The majority (217; 67.2%) of respondents prescribed antibiotics daily in their clinical practice AMR was recognized as a global and local problem by 308 (95.4%) and 262 (81.1%) respondents, respectively. Only 91 (28.2%) of respondents have ever heard of antibiotic stewardship. The median AMR knowledge score was 40 (19-45)out of 45while that for ASP was 46.0(32-57) out of 60. There was significant statistical difference between the ASP median scores among the medical specialties category (P value <0.0001) More respondents had good knowledge of AMR than ASPs (82.7% versus 36.5%; p <0.0001). Respondents in this study were more knowledgeable about AMR than AMS and its core components. Respondents in this study were more knowledgeable about AMR than AMS and its core components. Coronavirus disease (COVID-19) can trigger a cytokine response storm (CRS) that is associated with high mortality but for which the underlying pathophysiology and diagnostics are not yet well characterized. This review provides an overview of the underlying immune profile of COVID-19-related CRS as well as laboratory markers for acute diagnosis and chronic follow-up of patients with SARS-CoV-2 and CRS. Innate and acquired immune profiles in COVID-19-CRS, RNA-detection methods for SARS-CoV-2 in the setting of CRS including factors that affect assay performance, serology for SARS-CoV-2 in the setting of CRS, and other biomarkers for COVID-19 will be discussed. Studies support the implication of CRS in the pathogenesis, clinical severity and outcome of COVID-19 through the production of multiple inflammatory cytokines and chemokines from activated innate and adaptive immune cells. Although these inflammatory molecules, including IL-6, IL-2R, IL-10, IP-10 and MCP-1, often correlate with disease severity as cules and the therapeutic benefits of targeting them are yet to be demonstrated. Detection of SARS-CoV-2 RNA is the gold standard method for diagnosis of COVID-19 in the context of CRS but assay performance varies and is susceptible to false-negative results even as patients clinically deteriorate due to decreased viral shedding in the setting of CRS. Biomarkers including CRP, ferritin, D-dimer and procalcitonin may provide early clues about progression to CRS and help identify thrombotic and infectious complications of COVID-19.
Paste Settings
Paste Title :
[Optional]
Paste Folder :
[Optional]
Select
Syntax Highlighting :
[Optional]
Select
Markup
CSS
JavaScript
Bash
C
C#
C++
Java
JSON
Lua
Plaintext
C-like
ABAP
ActionScript
Ada
Apache Configuration
APL
AppleScript
Arduino
ARFF
AsciiDoc
6502 Assembly
ASP.NET (C#)
AutoHotKey
AutoIt
Basic
Batch
Bison
Brainfuck
Bro
CoffeeScript
Clojure
Crystal
Content-Security-Policy
CSS Extras
D
Dart
Diff
Django/Jinja2
Docker
Eiffel
Elixir
Elm
ERB
Erlang
F#
Flow
Fortran
GEDCOM
Gherkin
Git
GLSL
GameMaker Language
Go
GraphQL
Groovy
Haml
Handlebars
Haskell
Haxe
HTTP
HTTP Public-Key-Pins
HTTP Strict-Transport-Security
IchigoJam
Icon
Inform 7
INI
IO
J
Jolie
Julia
Keyman
Kotlin
LaTeX
Less
Liquid
Lisp
LiveScript
LOLCODE
Makefile
Markdown
Markup templating
MATLAB
MEL
Mizar
Monkey
N4JS
NASM
nginx
Nim
Nix
NSIS
Objective-C
OCaml
OpenCL
Oz
PARI/GP
Parser
Pascal
Perl
PHP
PHP Extras
PL/SQL
PowerShell
Processing
Prolog
.properties
Protocol Buffers
Pug
Puppet
Pure
Python
Q (kdb+ database)
Qore
R
React JSX
React TSX
Ren'py
Reason
reST (reStructuredText)
Rip
Roboconf
Ruby
Rust
SAS
Sass (Sass)
Sass (Scss)
Scala
Scheme
Smalltalk
Smarty
SQL
Soy (Closure Template)
Stylus
Swift
TAP
Tcl
Textile
Template Toolkit 2
Twig
TypeScript
VB.Net
Velocity
Verilog
VHDL
vim
Visual Basic
WebAssembly
Wiki markup
Xeora
Xojo (REALbasic)
XQuery
YAML
HTML
Paste Expiration :
[Optional]
Never
Self Destroy
10 Minutes
1 Hour
1 Day
1 Week
2 Weeks
1 Month
6 Months
1 Year
Paste Status :
[Optional]
Public
Unlisted
Private (members only)
Password :
[Optional]
Description:
[Optional]
Tags:
[Optional]
Encrypt Paste
(
?
)
Create New Paste
You are currently not logged in, this means you can not edit or delete anything you paste.
Sign Up
or
Login
Site Languages
×
English
Tiếng Việt
भारत