3,234 results match your criteria DiGeorge Syndrome

Pediatric liver transplantation using a hepatitis B surface antigen-positive donor liver graft for congenital absence of the portal vein.

Korean J Transplant 2021 Mar 11;35(1):59-65. Epub 2021 Jan 11.

Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Congenital absence of the portal vein (CAPV) is a rare venous malformation in which mesenteric venous blood drains directly into systemic circulation. Herein, we report a case of pediatric deceased donor liver transplantation (DDLT) for symptomatic CAPV with whole liver graft from a hepatitis B surface antigen (HBsAg)-positive donor. A 4-year-old boy suffered from CAPV and secondary portal hypertension. Read More

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Congenital portosystemic venous shunt associated with 22q11.2 deletion syndrome: a case report.

BMC Pediatr 2022 Jun 29;22(1):379. Epub 2022 Jun 29.

Department of Pediatrics, Miyazaki Prefectural Miyazaki Hospital, 5-30, Kita Takamatsu-cho, Miyazaki City, Miyazaki, 880-8510, Japan.

Background: 22q11.2 deletion syndrome (22qDS) is the most common chromosomal microdeletion syndrome and is associated with a high rate of congenital heart disease (CHD) and neurodevelopmental abnormalities. Congenital portosystemic venous shunts (CPSS) are rare developmental abnormalities of the portal venous system. Read More

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The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia.

Nat Commun 2022 Jun 27;13(1):3690. Epub 2022 Jun 27.

Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, 02142, USA.

It is unclear how the 22q11.2 deletion predisposes to psychiatric disease. To study this, we generated induced pluripotent stem cells from deletion carriers and controls and utilized CRISPR/Cas9 to introduce the heterozygous deletion into a control cell line. Read More

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Elevated regional cerebral blood flow in adults with 22q11.2 deletion syndrome.

World J Biol Psychiatry 2022 Jun 24:1-15. Epub 2022 Jun 24.

Institute of Medical Science, University of Toronto, Toronto, Canada.

Objectives: Recurrent chromosome 22q11.2 deletions cause 22q11 deletion syndrome (22q11DS), a multisystem disorder associated with high rates of schizophrenia. Neuroanatomical changes on brain MRI have been reported in relation to 22q11DS. Read More

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Transcriptional regulation of transcriptional Mediator complexes in cardiovascular development and disease.

Yi Chuan 2022 May;44(5):383-397

Institute of Animal Genetics, Breeding and Reproduction, College of Animal Science, Zhejiang University, Hangzhou 310058, China.

During the development of the mammalian cardiovascular system, the formation of a mature and fully functional cardiovascular system needs the fine coordination of the morphogenesis of various molecules, cells, tissues, and organs. Abnormalities in these processes usually lead to serious congenital heart defects. The determination and maintenance of cell fate in multicellular organisms depend to a large extent on the precise timing and control of RNA polymerase II (Pol II) transcription, and the transcription Mediator complex plays an irreplaceable role in the Pol II transcription process. Read More

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Novel retinal observations in a child with DiGeorge (22q11.2 deletion) syndrome.

Am J Ophthalmol Case Rep 2022 Sep 6;27:101608. Epub 2022 Jun 6.

Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.

Purpose: DiGeorge (22q11.2 deletion) syndrome is the most common human deletion syndrome with wide range of ocular manifestations. Herein we describe a case with novel retinal observations in this conditions. Read More

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September 2022

Introducing thymus for promoting transplantation tolerance.

J Allergy Clin Immunol 2022 Jun 9. Epub 2022 Jun 9.

Department of Surgery, Duke University Medical Center, Durham, NC. Electronic address:

Establishing tolerance remains a central, if elusive, goal of transplantation. In solid-organ transplantation, one strategy for inducing tolerance has been cotransplantation of various forms of thymic tissue along with another organ. As one of the biological foundations of central tolerance, thymic tissue carries with it the ability to induce tolerance to any other organ or tissue from the same donor (or another donor tissue-matched to the thymic tissue) if successfully transplanted. Read More

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Experimental and computational analyses of calcium dynamics in 22q11.2 deletion model astrocytes.

Neurosci Lett 2022 Jul 6;783:136711. Epub 2022 Jun 6.

Department of Physiology and Biophysics, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY 14203, USA; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21225, USA. Electronic address:

Methods for deriving mechanistic information from intracellular calcium dynamics have largely been applied to neuronal data despite the knowledge of roles of glial cells in behavior, cognition, and psychiatric disorders. Using calcium imaging, computer vision, and Bayesian kinetic inference (BKI), we analyzed calcium dynamics in primary astrocytes derived from control or Df1/ mice, a model of 22q11.2 deletion (DiGeorge syndrome). Read More

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The Role of Repeat DNA Sequences in Human Evolution and Disease.

Helen Lawce

J Assoc Genet Technol 2022 ;48(2):54-61

Oregon Health and Science University Hospital, Portland, Oregon.

Objectives: Segmental chromosome duplications are an important evolutionary mechanism to produce new gene functions. Once an initial duplication takes place, the probability of a second event (structural change) increases. Segmental duplications (SDs) occur in many sizes and configurations. Read More

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January 2022

Inherited TNFSF9 deficiency causes broad Epstein-Barr virus infection with EBV+ smooth muscle tumors.

J Exp Med 2022 07 3;219(7). Epub 2022 Jun 3.

Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, Institut national de la santé et de la recherche médicale UMR 1163, Paris, France.

Epstein-Barr virus (EBV) can infect smooth muscle cells causing smooth muscle tumors (SMTs) or leiomyoma. Here, we report a patient with a heterozygous 22q11.2 deletion/DiGeorge syndrome who developed a unique, broad, and lethal susceptibility to EBV characterized by EBV-infected T and B cells and disseminated EBV+SMT. Read More

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Craniofacial Phenotypes and Genetics of DiGeorge Syndrome.

Noriko Funato

J Dev Biol 2022 May 13;10(2). Epub 2022 May 13.

Department of Signal Gene Regulation, Advanced Therapeutic Sciences, Medical and Dental Sciences, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo 113-8510, Japan.

The 22q11.2 deletion is one of the most common genetic microdeletions, affecting approximately 1 in 4000 live births in humans. A 1. Read More

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Late maternal diagnosis of DiGeorge syndrome with congenital hypoparathyroidism following antenatal detection of the same 22q11.2 microdeletion syndrome in the fetus.

BMJ Case Rep 2022 May 20;15(5). Epub 2022 May 20.

Diabetes & Endocrinology, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK.

Genetic causes of hypocalcaemia can be overlooked in patients who present without apparent syndromic features. One relatively common but under-recognised genetic disorder is DiGeorge syndrome, which is often diagnosed in childhood but rarely in adulthood. Its enigmatic diagnosis can be attributed to its broad heterogeneous clinical presentation, such as the absence of cardiac abnormalities with only subtly abnormal facies. Read More

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Anesthetic Challenges in a Patient With TANGO2 Gene Deletion, DiGeorge Syndrome, and Tetralogy of Fallot: A Case Report.

Semin Cardiothorac Vasc Anesth 2022 May 20:10892532221080946. Epub 2022 May 20.

University of Texas Health Science Center at Houston, Houston, TX, USA.

Mutations of the transport and Golgi organization 2 (TANGO2) genes are linked with both long-term neurological decline and acute metabolic crises during stress, leading to significant anesthetic risk. Crises are marked by rhabdomyolysis, lactic acidosis, seizures, cardiac dysfunction, and dysrhythmias. Much is unknown about optimal management of this condition, especially in the acute and critical care settings. Read More

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Mechanism of METTL3-mediated m6A modification in depression-induced cognitive deficits.

Am J Med Genet B Neuropsychiatr Genet 2022 Apr 19;189(3-4):86-99. Epub 2022 May 19.

Department of Geriatric Psychiatry, Qingdao Mental Health Center, Qingdao, Shandong Province, China.

Depressive disorder (DD) is associated with N6-methyladenosine (m6A) hypermethylation. This study sought to explore the molecular mechanism of Methyltransferase-like 3 (METTL3) in cognitive deficits of chronic unpredictable mild stress (CUMS)-treated rats and provide novel targets for DD treatment. A DD rat model was established via CUMS treatment. Read More

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Thymic hypoplasia induced by copy number variations contributed to explaining sudden infant death based on forensic autopsies.

Forensic Sci Int 2022 Jul 2;336:111323. Epub 2022 May 2.

School of Forensic Medicine, Southern Medical University, Guangzhou 510515, China; Guangzhou Key Laboratory of Forensic Multi-Omics for Precision Identification, School of Forensic Medicine, Southern Medical University, Guangzhou 510515, China. Electronic address:

Thymic hypoplasia is a primary cellular immunodeficiency that causes susceptibility to serious infections leading to sudden death in infants. Some genetic disorders in humans could result in the evident permanent hypoplasia or occasional aplasia of the thymus at birth. However, determining the genetic etiology of thymic hypoplasia is challenging for the sudden infant death due to primary cellular immunodeficiency. Read More

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The influence of familiarity on memory for faces and mask wearing.

Cogn Res Princ Implic 2022 05 15;7(1):45. Epub 2022 May 15.

Experimental Psychology, Justus Liebig University, Giessen, Germany.

During the COVID-19 pandemic, the wearing of face masks became mandatory in public areas or at workplaces in many countries. While offering protection, the coverage of large parts of our face (nose, mouth and chin) may have consequences for face recognition. This seems especially important in the context of contact tracing which can require memory of familiar and unfamiliar contacts and whether they were wearing a mask. Read More

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Developmental dynamics of the neural crest-mesenchymal axis in creating the thymic microenvironment.

Sci Adv 2022 May 13;8(19):eabm9844. Epub 2022 May 13.

Department of Paediatrics and the Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

The thymic stroma is composed of epithelial and nonepithelial cells providing separate microenvironments controlling homing, differentiation, and selection of hematopoietic precursor cells to functional T cells. Here, we explore at single-cell resolution the complex composition and dynamic changes of the nonepithelial stromal compartment across different developmental stages in the human and mouse thymus, and in an experimental model of the DiGeorge syndrome, the most common form of human thymic hypoplasia. The detected gene expression signatures identify previously unknown stromal subtypes and relate their individual molecular profiles to separate differentiation trajectories and functions, revealing an unprecedented heterogeneity of different cell types that emerge at discrete developmental stages and vary in their expression of key regulatory signaling circuits and extracellular matrix components. Read More

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Schizophrenia Risk Mediated by microRNA Target Genes Overlapped by Genome-Wide Rare Copy Number Variation in 22q11.2 Deletion Syndrome.

Front Genet 2022 15;13:812183. Epub 2022 Apr 15.

Institute of Medical Science, University of Toronto, Toronto, ON, Canada.

The 22q11.2 deletion is associated with >20-fold increased risk for schizophrenia. The presence of gene in the 22q11. Read More

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Upregulation of DGCR8, a Candidate Predisposing to Schizophrenia in Han Chinese, Contributes to Phenotypic Deficits and Neuronal Migration Delay.

Front Psychiatry 2022 15;13:873873. Epub 2022 Apr 15.

Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Shanghai Jiao Tong University, Shanghai, China.

DiGeorge Syndrome Critical Region Gene 8 (DGCR8) is a key component of the microprocessor complex governing the maturation of most microRNAs, some of which participate in schizophrenia and neural development. Previous studies have found that the 22q11.2 locus, containing DGCR8, confers a risk of schizophrenia. Read More

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Changes in neural processing and evaluation of negative facial expressions after administration of an open-label placebo.

Sci Rep 2022 04 21;12(1):6577. Epub 2022 Apr 21.

Department of Clinical Psychology, University of Graz, BioTechMed, Universitätsplatz 2/DG, 8010, Graz, Austria.

A recent event-related potential (ERP) study found that an open-label placebo (OLP) reduced emotional distress during the viewing of unpleasant scenes and the amplitude of the late positive potential (LPP). The present ERP experiment aimed at a conceptual replication of this finding and investigated OLP effects during affective face processing. The participants (109 females) were presented with images depicting angry and neutral facial expressions after the administration of a saline nasal spray. Read More

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Application of Interphase Fluorescent in Situ Hybridization: a Screening Tool for the Diagnosis of Microdeletion Syndrome.

Clin Lab 2022 Apr;68(4)

Background: Most laboratories adopt the results of metaphase fluorescent in situ hybridization (FISH) for the diagnosis of microdeletion syndromes. To investigate the discrepancy between the results of interphase and metaphase, we compared the quantitative results of FISH for 5 kinds of microdeletion syndrome and gender determination disorders (SDD).

Methods: A total of 282 (135 for DiGeorge syndrome, 20 for Kalmann syndrome, 7 for Miller-Dieker syndrome, 38 for Prader Willi/Angelman syndrome, 62 for Williams syndrome, and 20 for SDD (SRY FISH)) were enrolled. Read More

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Hybrid Single-Stage Repair of Kommerell's Diverticulum in a Right Aortic Arch in a Patient With 22q11.2 Deletion Syndrome.

Vasc Endovascular Surg 2022 Aug 20;56(6):595-601. Epub 2022 Apr 20.

Department of Clinical, Internal Medicine, Anaesthesiology and Cardiovascular Sciences, 9311Sapienza University of Rome, Rome, Italy.

Hybrid single-stage repair of Kommerell's diverticulum in a right aortic arch.Aortic arch anomalies, isolated or associated with congenital heart defects, are cardiovascular manifestations frequently associated with 22q11.2 deletion syndrome. Read More

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Association of Ear Anomalies and Hearing Loss Among Children With 22q11.2 Deletion Syndrome.

Otolaryngol Head Neck Surg 2022 Apr 19:1945998221094219. Epub 2022 Apr 19.

Department of Radiology, Cleveland Clinic, Cleveland, Ohio, USA.

Objective: To identify inner and middle ear anomalies in children with 22q11.2 deletion syndrome (22q11DS) and determine associations with hearing thresholds.

Study Design: Retrospective study. Read More

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Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome.

Front Endocrinol (Lausanne) 2022 31;13:771100. Epub 2022 Mar 31.

Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

Background: Endocrine disorders are common in patients with 22q11.2 deletion syndrome (22q11.2DS). Read More

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Surgical insights and management in patients with the 22q11.2 deletion syndrome.

Pediatr Surg Int 2022 Jun 12;38(6):899-905. Epub 2022 Apr 12.

Division of General, Thoracic, and Fetal Surgery, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA, 19104, USA.

Purpose: 22q11.2 deletion syndrome (22q11.2DS) can present with a variety challenges to patients and their caregivers, many of which require surgical evaluation and intervention. Read More

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Two Faces of Brugada Syndrome.

Indian Pediatr 2022 04;59(4):342-343

Department of Pediatric Cardiology and Rheumatology, Medical University of Lodz, Poland.

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Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion.

J Clin Med 2022 Apr 5;11(7). Epub 2022 Apr 5.

Section of Clinical and Laboratory Immunology, Pediatric Unit, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a primary immunodeficiency characterized by a broad and heterogeneous clinical presentation associated with various degrees of T-cell deficiency. Read More

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Impact of mask use on face recognition: an eye-tracking study.

Cogn Res Princ Implic 2022 04 8;7(1):32. Epub 2022 Apr 8.

Department of Psychology, The Education University of Hong Kong, Tai Po, New Territories, Hong Kong SAR, China.

We examined how mask use affects performance and eye movements in face recognition and whether strategy change reflected in eye movements is associated with performance change. Eighty-eight participants performed face recognition with masked faces either during learning only, during recognition only, or during both learning and recognition. As compared with the baseline condition where faces were unmasked during both learning and recognition, participants had impaired performance in all three scenarios, with larger impairment when mask conditions during learning and recognition did not match. Read More

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Masked face identification is improved by diagnostic feature training.

Cogn Res Princ Implic 2022 04 5;7(1):30. Epub 2022 Apr 5.

Psychology, Faculty of Natural Sciences, University of Stirling, Stirling, Scotland, UK.

To slow the spread of COVID-19, many people now wear face masks in public. Face masks impair our ability to identify faces, which can cause problems for professional staff who identify offenders or members of the public. Here, we investigate whether performance on a masked face matching task can be improved by training participants to compare diagnostic facial features (the ears and facial marks)-a validated training method that improves matching performance for unmasked faces. Read More

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Reduced Retinoic Acid Signaling During Gastrulation Induces Developmental Microcephaly.

Front Cell Dev Biol 2022 14;10:844619. Epub 2022 Mar 14.

Department of Developmental Biology and Cancer Research, Institute for Medical Research Israel-Canada, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.

Retinoic acid (RA) is a central signaling molecule regulating multiple developmental decisions during embryogenesis. Excess RA induces head malformations, primarily by expansion of posterior brain structures at the expense of anterior head regions, i.e. Read More

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