DiGeorge syndrome is a disorder caused by a microdeletion on the long arm of chromosome 22. Approximately 1% of patients diagnosed with DiGeorge syndrome may have an absence of a functional thymus, which characterizes the complete form of the syndrome. These patients require urgent treatment to reconstitute T cell immunity. Thymus transplantation is a promising investigational procedure for reconstitution of thymic function in infants with congenital athymia. Here, we demonstrate a possible optimization of the preparation of thymus slices for transplantation through prior depletion of thymocytes and leukocyte cell lineages followed by cryopreservation with cryoprotective media (5% dextran FP 40, 5% Me2SO, and 5% FBS) while preserving tissue architecture. Thymus fragments were stored in liquid nitrogen at -196°C for 30 days or one year. The tissue architecture of the fragments was preserved, including the distinction between medullary thymic epithelial cells (TECs), cortical TECs, and Hassall bodies. Moreover, depleted thymus fragments cryopreserved for one year were recolonized by intrathymic injections of 3×106 thymocytes per mL, demonstrating the capability of these fragments to support T cell development. Thus, this technique opens up the possibility of freezing and storing large volumes of thymus tissue for immediate transplantation into patients with DiGeorge syndrome or atypical (Omenn-like) phenotype.
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http://dx.doi.org/10.1590/1414-431X2023e12647 | DOI Listing |
Semin Thromb Hemost
January 2025
Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.
22q11.2 deletion syndrome (22q11.2DS) is one of the most common congenital malformation syndromes resulting from disrupted embryonic development of pharyngeal pouches.
View Article and Find Full Text PDFAnn Thorac Surg Short Rep
December 2024
Department of Pediatric Cardiothoracic Surgery, Children's Hospital of New Orleans, New Orleans, Louisiana.
An infant with DiGeorge syndrome, multiple comorbidities, and truncus arteriosus type II underwent repair complicated by heart block necessitating placement of a dual-chamber bipolar pacing system with right ventricular leads and subsequent resynchronization with placement of left ventricular apical pacing leads. Resynchronization therapy improved QRS duration from 180 ms to 100 ms and ejection fraction from 25% to 54% over the course of 4 weeks with gradual return to normal function and eventual discharge.
View Article and Find Full Text PDFPLoS One
January 2025
Institute for Biomedical Ethics, University of Basel, Basel, Switzerland.
Introduction: 22q11 deletion syndrome (22q11DS) results from a microdeletion on chromosome 22 and is the most common microdeletion disorder in humans, affecting 1 in 2148 live births. Clinical manifestations vary widely among individuals and across different life stages. Effective management requires the involvement of a specialized multidisciplinary team.
View Article and Find Full Text PDFTransl Psychiatry
January 2025
Ear Institute, University College London, London, UK.
The 22q11.2 deletion is a risk factor for multiple psychiatric disorders including schizophrenia and also increases vulnerability to middle-ear problems that can cause hearing impairment. Up to 60% of deletion carriers experience hearing impairment and ~30% develop schizophrenia in adulthood.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
General Hospital of Ningxia Medical University, Yinchuan, Ningxia 750004, China.
Objective: To explore the clinical phenotype, pregnancy outcome and follow-up of fetuses with 15q11.2BP1-BP2 microdeletions in order to provide a basis for prenatal and reproductive consultation.
Methods: From March 2019 to December 2023, 20 fetuses who were diagnosed with 15q11.
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