Results 31 to 40 of about 1,144,251 (159)

Autoimmune hemolytic anemia associated with vitamin B12 deficiency and viral illness in DiGeorge syndrome. Case report and literature review

Clinical Case Reports, 2021
Vitamin B12 plays a crucial role in cell maturation and differentiation. Its deficiency can lead to cytopenias and even hemolysis. We suggest regular monitoring and maintenance of Vit B12 levels in DiGeorge syndrome patients to prevent such triggers.
Zohaib Yousaf, Fateen Ata, Phool Iqbal, Bassam Muthanna, Adeel Ahmad Khan, Jaweria Akram, Anand Kartha   +6 more
doaj   +1 more source

"Mechanisms of transcriptional regulation by Tbx1" [PDF]

, 2010
Deletion 22q11.2 syndrome (22q11DS) is the most common microdeletion syndrome in man, with an incidence of approximately 1:4000 live births (1); the major malformations include congenital heart defects such as truncus arteriosus (TA) and interrupted ...
Pane, Luna Simona
core   +1 more source

A First Case Report of DiGeorge Syndrome from Ethiopia Highlights Challenges in Identifying and Treating Children with Primary T-Cell Deficiencies in Low Resource Settings

Case Reports in Immunology, 2020
Background. Cellular primary immunodeficiencies are rarely reported from Africa. DiGeorge syndrome is a commonly recognized form of a congenital T-cell deficiency.
Tinsae Alemayehu, Solomie Jebessa Deribessa   +1 more
doaj   +1 more source

Intrasplenic Thymus Organogenesis from Injectable Tissue Fragments Restores Functional T‐Cell Immunity

Advanced Science, EarlyView.
Clinical intramuscular thymus transplantation yields only short‐lived efficacy and marginal therapeutic benefits. Benefiting from the spleen's intrinsic strengths—rapid vascular perfusion, abundant developmental factors, and resident progenitors—the intrasplenic thymic grafts achieve robust thymic regeneration and substantial T‐cell reconstitution ...
Shaocong Wang, Zijian Zhang, Fulin Dai, Zhijie Yin, Zhen Xing, Yurong Li, Haochong Lei, Junfeng Zhang, Chunyan Liu, Yan Li, Lei Dong   +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, Capolino, Rossella, Digilio, Maria Cristina, Dallapiccola, B.   +3 more
core  

DiGeorge Syndrome

, 2019
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is the prototype of syndromes due to defective development of the third and fourth pharyngeal pouch.
Claudio Pignata, Fiorentino Grasso, Emilia Cirillo, Vera Gallo, Giuliana Giardino   +4 more
core   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Schizophrenia in DiGeorge Syndrome: A Unique Case Report [PDF]

, 2018
Herein we present the unique case of a 21-year-old African American woman who presented with psychotic features and the incidental finding of basal ganglia calcifications on computed tomography (CT) scan of the head.
Carrington, Alexis, Griffiths, Alexa, Mohit, Abdul, Khan, Ali M., Saeed, Hina, Rizvi, Sukaina, Aribara, Akeem M.   +6 more
core   +1 more source

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, Weiran Wu, Qingqing Cai, Jiaxing Wang, Qi Gao, Muhammad Iftikhar, Yulin Bi, Hao Bai, Lihong Gu, Guobin Chang, Shihao Chen   +10 more
wiley   +1 more source

Progressive hypergonadotropic hypogonadism in an adolescent with 22q11.2 deletion syndrome

BMC Endocrine Disorders
Background 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, Gamze Mutlucan Köseoğlu, Esra Kılıç, Derya Tepe, Pınar Kocaay   +4 more
doaj   +1 more source