TBX1

(redirected from VCFS)
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TBX1

A gene on chromosome 22q11.21 that encodes a DNA-binding member of the phylogenetically conserved family of genes that have a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in regulating development.
 
Molecular pathology
TBX1 deletions are associated with DiGeorge/velocardiofacial syndrome, which is characterised by neural-crest developmental defects.
References in periodicals archive ?
Thirty-nine patients with a clinical suspicion of DGS, VCFS, CATCH22, 22q11.2DS or a confirmed diagnosis of tetralogy of Fallot (TOF) or complex cardiopathy were recruited in the 2012-2015 period.
The most common VCF surgical treatments include balloon kyphoplasty and percutaneous vertebroplasty--two procedures that are likely to grow in popularity over the next decade as the world's population ages and succumbs to the bane of brittle bones.
More than 700,000 people annually suffer from vertebral compression fractures (VCF), making them more common than hip and wrist fractures combined.
Since the mid 1980's, percutaneous spinal augmentations have been performed to reduce the pain, narcotic use, and disability associated with VCFs. These techniques were rapidly adopted in Europe and later in the US due to their efficacy and ease of implementation into both inpatient and outpatient settings without the need for excessive post-procedural monitoring.
VCFs were defined as the development of de novo fractures or the progression of preexistent VCFs with relevant symptoms.
An economic analysis published online in the May/June issue of Pain Physician suggests that US-based spine repair solutions provider Benvenue Medical, Inc.'s Kiva VCF Treatment System, a novel implant for treating vertebral compression fractures, resulted in substantial cost and resource savings in the hospital setting over the current standard of care, the balloon kyphoplasty, the company said on Wednesday.
Los criterios de inclusion fueron: a) tipos de estudio: experimental, poblacional, de casos y controles y de prevalencia; b) pacientes con esquizofrenia y reporte de la microdelecion 22q11.2; c) pacientes con microdelecion 22q11.2, VCFS o DGS y que reporten esquizofrenia; d) con tecnicas de diagnostico citogenetico y molecular; e) con informacion de asesoria genetica a pacientes que tengan el 22q11.2 DS, y f) publicaciones de cualesquiera ano y poblacion.
Clinical symptoms of VCFs may include sudden onset of back pain, limited spinal mobility, increase in pain while standing or walking, disability and deformity of the vertebrae over time, eventual vertebral height loss and medical conditions like kyphosis, segmental instability and neurological complications.
22Q is almost as common as Down's Syndrome but is less widely-known and had several clinical names - VCFS, DiGeorge syndrome, velocardiofacial syndrome and CTAF - before the underlying cause was found to be a missing chromosome.
In India, there are venture capital funds (VCFs) promoted by central government and state government development financial institutions, promoted by banks (nationalised, private and foreign) and promoted by private sector companies.
Conservative treatment of painful VCFs, such as bed rest, braces, and/or narcotic analgesic medication, has only modest short-term effectiveness and is associated with poor long-term outcomes, including exacerbation of bone loss, increased risk of subsequent fracture, decreased mobility, and increased mortality [5-7].
In humans, the Mrpl40 gene is part of a chromosomal deletion of 22q11 in velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome [36, 37].