The Role of miRNAs in Chicken Immune Regulation and Prospects for Disease‐Resistant Breeding
Animal Research and One Health, EarlyView.A schematic workflow illustrating the screening of disease‐resistant miRNAs and the generation of miRNA‐based disease‐resistant chickens via PGC‐mediated germline genome editing. ABSTRACT MicroRNAs (miRNAs) are emerging as pivotal regulators of the immune system, playing a decisive role in shaping disease resistance in chicken.
Qiangzhou Wang +10 more
wiley +1 more source
Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-CardioFacial syndrome) [PDF]
, 2005 Deletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) is characterized by congenital heart defect (CHD), palatal anomalies, facial dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning disabilities. CHD is present
Marino, Bonnie +3 more
core
Anaesthetic management for cleft palate in a child with digeorge syndrome: Look before you leap! [PDF]
, 1970 DiGeorge syndrome is a multisystem disorder associated with various cardiac anomalies, aplasia or hypoplasia of thymus and parathyroid glands, palatal defects, immune deficiency, and characteristic facial features. Here, we are reporting the case of
Sahoo, Sangeeta +3 more
core +2 more sources
Influence of Tracheostomy Level on Surgical Management of Pediatric Airway Stenosis
The Laryngoscope, EarlyView.Tracheostomy location is a critical determinant of surgical complexity and outcomes in pediatric laryngotracheal stenosis. Misplacement may lead to longer tracheal resections, an increased need for stoma relocation, more complex reconstruction, and secondary stenosis. Strategic planning of tracheostomy position can improve surgical outcomes.
Alexandre Waldmeyer +2 more
wiley +1 more source
Progressive hypergonadotropic hypogonadism in an adolescent with 22q11.2 deletion syndrome
BMC Endocrine DisordersBackground DiGeorge syndrome is a common microdeletion disorder caused by deletion in the 22q11.2 region. It typically presents with immune dysfunction, parathyroid hypoplasia, and congenital heart defects. Testis-specific serine/threonine kinases (TSSKs)
Duygu Deligözoğlu +4 more
doaj +1 more source
When to consider an inborn error of immunity: clues for physicians
Internal Medicine Journal, EarlyView.Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley +1 more source
New characterization of congenital immunodeficiencies due to different functional alterations [PDF]
, 2010 In the last thirty years of the 20th century, a formidable numbers of scientific discoveries in the field of PIDs were made. Many scientific papers have been published on the molecular and cellular basis of the immune response and on the mechanisms ...
Fusco, Anna
core
Live vaccine in children with DiGeorge/22q11.2 Deletion Syndrome [PDF]
, 2019 Copyright © Ordem dos Médicos 2019Children with DiGeorge syndrome/chromosome 22q11.2 deletion syndrome might have a variable degree of immunodeficiency, which may limit the use of live vaccines.
Martins, Andreia Teixeira +5 more
core +1 more source
Selected forms of therapy of a child with DiGeorge syndrome. A case study
Journal of Modern ScienceDiGeorge syndrome is a genetically determined birth defect syndrome with an estimated incidence of once every 3,000-5,000 births. Among the most characteristic symptoms are features of facial dysmorphia, abnormalities of intellectual development and ...
Edyta Ewelina Osękowska +3 more
doaj +1 more source
MOZ Regulates the Tbx1 Locus, and Moz Mutation Partially Phenocopies DiGeorge Syndrome [PDF]
, 2012 SummaryDiGeorge syndrome, caused by a 22q11 microdeletion or mutation of the TBX1 gene, varies in severity greatly, even among monozygotic twins. Epigenetic phenomena have been invoked to explain phenotypic differences in individuals of identical genetic
Dixon, Mathew P. +7 more
core +1 more source