Results 21 to 30 of about 9,184 (168)

Risk of thyroid neoplasms in patients with 22q11.2 deletion and DiGeorge-like syndromes: an insight for follow-up

Frontiers in Endocrinology, 2023
IntroductionThe chromosome 22q11.2 deletion syndrome comprises phenotypically similar diseases characterized by abnormal development of the third and fourth branchial arches, resulting in variable combinations of congenital heart defects, dysmorphisms ...
Walter Maria Sarli, Walter Maria Sarli, Silvia Ricci, Silvia Ricci, Lorenzo Lodi, Lorenzo Lodi, Federica Cavone, Lucia Pacillo, Lucia Pacillo, Lucia Pacillo, Carmela Giancotta, Graziamaria Ubertini, Giampiero Baroncelli, Caterina Cancrini, Caterina Cancrini, Caterina Cancrini, Chiara Azzari, Chiara Azzari, Stefano Stagi, Stefano Stagi   +19 more
doaj   +1 more source

22q11.2 microdeletion syndrome as a multidisciplinary problem

Pediatria i Medycyna Rodzinna, 2017
22q11.2 microdeletion syndrome, known also under the name of DiGeorge syndrome, is the most frequent deletion in the human chromosome. Its prevalence is estimated at about 1:9,700 newborns, but this is probably an underestimation. In over 90% of cases,
Marta Skoczyńska, Izabela Lehman
doaj   +1 more source

Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult

European Journal of Case Reports in Internal Medicine, 2021
22q11.2 deletion syndrome typically presents with congenital cardiac anomalies, immunodeficiencies and hypoparathyroidism. However, clinical findings vary greatly. We present the case of a 56-year-old man, with a history of cleft palate and schizophrenia,
Melissa Elise van der Meijs, Dave Henri Schweitzer, Henk Boom   +2 more
doaj   +1 more source

Oral and Clinical Manifestations of DiGeorge Syndrome with Primary Hypoparathyroidism: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
DiGeorge syndrome is an autosomal dominant inherited disorder caused by a deletion of chromosome 22q11.2. It is a multisystem condition, classically presenting with a triad of congenital heart defects, hypoplasia of the parathyroid glands and thymus,
Nayantara Menon, Bb Shahala, Mp Uthkal, Shahana P Sulaiman, Amjad Ali   +4 more
doaj   +1 more source

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

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

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

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

DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood

Case Reports in Medicine, 2013
Introduction. DiGeorge syndrome is a developmental defect commonly caused by a microdeletion on the long arm of chromosome 22 or less frequently by a deletion of the short arm of chromosome 10. Case report.
Adrian Zammit, Deborah Grech Marguerat, Josephine Psaila, Alexander Attard   +3 more
doaj   +1 more source

CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To synthesize the prevalence of otolaryngologic manifestations in CHARGE syndrome (CS) to support otolaryngologists in delivering comprehensive management. Data Sources PubMed/MEDLINE, Embase, and Google Scholar were searched for English‐ and French‐language studies published from January 1980 through January 2025.
Camille Caron, Massil Badji, Camille Prigent, Alix Pincivy, Erika Mercier, Mathieu Bergeron   +5 more
wiley   +1 more source