2,849 results match your criteria DiGeorge Syndrome


Detection of chromosomal abnormalities in spontaneous miscarriage by low‑coverage next‑generation sequencing.

Mol Med Rep 2020 Aug 3;22(2):1269-1276. Epub 2020 Jun 3.

Institute of Antibody Engineering, School of Laboratory Medicine and Biotechnology, Southern Medical University, Guangzhou, Guangdong 510515, P.R. China.

Chromosomal abnormalities (CAs) can cause spontaneous miscarriage and increase the incidence of subsequent pregnancy loss and other complications. Presently, CAs are detected mainly by array comparative genomic hybridization (CGH) and single nucleotide polymorphism microarrays. The present study developed a low‑coverage next‑generation sequencing method to detect CAs in spontaneous miscarriage and assess its clinical performance. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3892/mmr.2020.11208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7339674PMC

An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome.

Case Rep Neurol 2020 May-Aug;12(2):165-168. Epub 2020 Jun 9.

Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA.

DiGeorge syndrome (22q11.2 deletion) is associated with several neurologic disorders including structural abnormalities involving brain and spine, movement disorders, and epilepsy. Progressive spastic paraparesis has not been reported with DiGeorge syndrome. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000507954DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315177PMC

Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopenia.

Blood Adv 2020 Jun;4(12):2611-2616

Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), Bethesda, MD.

The study of early T-cell development in humans is challenging because of limited availability of thymic samples and the limitations of in vitro T-cell differentiation assays. We used an artificial thymic organoid (ATO) platform generated by aggregating a DLL4-expressing stromal cell line (MS5-hDLL4) with CD34+ cells isolated from bone marrow or mobilized peripheral blood to study T-cell development from CD34+ cells of patients carrying hematopoietic intrinsic or thymic defects that cause T-cell lymphopenia. We found that AK2 deficiency is associated with decreased cell viability and an early block in T-cell development. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1182/bloodadvances.2020001730DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7322962PMC

Deficient Expression of in Human Testis is Related to Spermatogenesis Dysfunction, Especially in Meiosis I.

Int J Gen Med 2020 15;13:185-192. Epub 2020 May 15.

Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

Introduction: () contributes to miRNA biogenesis, and defects in its expression could lead to defects in spermatogenesis.

Methods: Here, we assess gene and protein expression levels of in the testicular biopsy specimens obtained from men with obstructive azoospermia (OA, n = 19) and various types of non-obstructive azoospermia (NOA) including maturation arrest (MA, n = 17), Sertoli cell-only syndrome (SCOS, n = 20) and hypospermatogenesis (HYPO, 18). Also, samples of men with NOA were divided into two groups based on successful and unsuccessful sperm recovery, NOA+ in 21 patients and NOA- in 34 patients. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2147/IJGM.S255431DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7237130PMC

Prenatal screening of DiGeorge (22q11.2 deletion) syndrome by abnormalities of the great arteries among Thai pregnant women.

Obstet Gynecol Sci 2020 May 14;63(3):330-336. Epub 2020 Apr 14.

Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.

Objective: 22q11.2DS (deletion syndrome) is one of the common serious anomalies resulting in high perinatal morbidity and mortality rate. Nevertheless, prenatal diagnosis of 22q11. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5468/ogs.2020.63.3.330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231935PMC

The Prevalence of Congenital Heart Diseases in Syndromic Children at King Khalid National Guard Hospital from 2005 to 2016.

Cureus 2020 Apr 29;12(4):e7891. Epub 2020 Apr 29.

Pediatric Cardiology, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, SAU.

Background Congenital heart diseases (CHDs) are abnormalities that present in the heart since birth and are one of the leading causes of infant mortality in the world. CHDs are more common among children with dysmorphic syndromes. The current study aims to estimate the prevalence of many CHDs in different dysmorphic syndromes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7759/cureus.7891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255536PMC

Anaesthesia concerns and perioperative management in a child with DiGeorge syndrome with corrected tetralogy of Fallot with pulmonary atresia posted for laparoscopic orchidopexy: Case report.

Indian J Anaesth 2020 Apr 28;64(4):322-324. Epub 2020 Mar 28.

Department of Anaesthesiology and Paediatric Cardiac Sciences, Sir H. N. Reliance Hospital, Mumbai, Maharashtra, India.

DiGeorge syndrome is afflicted with multiple congenital anomalies such as conotruncal and craniofacial anomaly, immune system dysfunction and hypoplasia/aplasia of parathyroid glands. Laparoscopy is a preferred surgical approach over open orchidopexy due to better visualisation of impalpable testis avoiding long incision, minimal tissue damage and a faster recovery. We report a case of DiGeorge syndrome with corrected tetralogy of Fallot with pulmonary atresia in a 1-year-old male child posted for laparoscopic orchidopexy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/ija.IJA_770_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7259404PMC

Evaluation of awareness about primary immunodeficiencies among physicians before and after implementation of the educational program: A longitudinal study.

PLoS One 2020 29;15(5):e0233342. Epub 2020 May 29.

Department of Children's Diseases and Pediatric Surgery, I.Horbachevsky Ternopil National Medical University, Ternopil, Ukraine.

Increasing physicians' awareness is one of the main ways to improve early diagnosis of rare diseases. A survey among physicians of different specialties to evaluate the knowledge about primary immunodeficiencies (PID) was conducted in 2016 and in 2019 -before and after the implementation of an educational program. We compare responses from 82 doctors who participated in the 2016 survey, and 67 doctors who have taken part in the survey in 2019: pediatricians, general practitioners / family physicians and physicians of pediatric sub specialties. Read More

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0233342PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7259605PMC

Argonaute proteins: Structural features, functions and emerging roles.

J Adv Res 2020 Jul 29;24:317-324. Epub 2020 Apr 29.

State Key Laboratory of Veterinary Etiological Biology, Key Laboratory of Veterinary Parasitology of Gansu Province, Lanzhou Veterinary Research Institute, CAAS, Lanzhou 730046, China.

Argonaute proteins are highly conserved in almost all organisms. They not only involve in the biogenesis of small regulatory RNAs, but also regulate gene expression and defend against foreign pathogen invasion via small RNA-mediated gene silencing pathways. As a key player in these pathways, the abnormal expression and/or mis-modifications of Argonaute proteins lead to the disorder of small RNA biogenesis and functions, thus influencing multiply biological processes and disease development, especially cancer. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jare.2020.04.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7235612PMC

TBX1 Regulates Chondrocyte Maturation in the Spheno-occipital Synchondrosis.

J Dent Res 2020 May 22:22034520925080. Epub 2020 May 22.

Life Science Center for Survival Dynamics, Tsukuba Advanced Research Alliance, University of Tsukuba, Tsukuba, Japan.

The synchondrosis in the cranial base is an important growth center for the craniofacial region. Abnormalities in the synchondroses affect the development of adjacent regions, including the craniofacial skeleton. Here, we report that the transcription factor , the candidate gene for DiGeorge syndrome, is expressed in mesoderm-derived chondrocytes and plays an essential and specific role in spheno-occipital synchondrosis development by inhibiting the expression of genes involved in chondrocyte hypertrophy and osteogenesis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0022034520925080DOI Listing

Long-term outcomes of repaired and unrepaired truncus arteriosus: 20-year, single-center experience in Thailand.

PeerJ 2020 12;8:e9148. Epub 2020 May 12.

Department of Surgery, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Background: Truncus arteriosus (TA) is a complex congenital heart disease that carries morbidities in the first year of life. Previous authors have reported an operative mortality of 50%. In this report, we aim to report on the survival of patients with TA in our medical center in the recent era. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7717/peerj.9148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7227657PMC

Oral fluconazole use in the first trimester and risk of congenital malformations: population based cohort study.

BMJ 2020 May 20;369:m1494. Epub 2020 May 20.

Division of Pharmacoepidemiology and Pharmacoeconomics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, 1620 Tremont Street, Suite 3030, Boston, MA 02120, USA.

Objective: To examine the risk of congenital malformations associated with exposure to oral fluconazole at commonly used doses in the first trimester of pregnancy for the treatment of vulvovaginal candidiasis.

Design: Population based cohort study.

Setting: A cohort of pregnancies publicly insured in the United States, with data from the nationwide Medicaid Analytic eXtract 2000-14. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bmj.m1494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7237981PMC

Molecular Insights Into the Causes of Human Thymic Hypoplasia With Animal Models.

Front Immunol 2020 5;11:830. Epub 2020 May 5.

Department of Immunology, The University of Texas Southwestern Medical Center, Dallas, TX, United States.

22q11.2 deletion syndrome (DiGeorge), CHARGE syndrome, Nude/SCID and otofaciocervical syndrome type 2 (OTFCS2) are distinct clinical conditions in humans that can result in hypoplasia and occasionally, aplasia of the thymus. Thymic hypoplasia/aplasia is first suggested by absence or significantly reduced numbers of recent thymic emigrants, revealed in standard-of-care newborn screens for T cell receptor excision circles (TRECs). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fimmu.2020.00830DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7214791PMC

MicroRNAs and Xenobiotic Toxicity: An Overview.

Toxicol Rep 2020 4;7:583-595. Epub 2020 May 4.

Molecular Toxicology Laboratory, Department of Biotechnology, Bharathiar University, Coimbatore, 641 046, India.

The advent of new technologies has paved the rise of various chemicals that are being employed in industrial as well as consumer products. This leads to the accumulation of these xenobiotic compounds in the environment where they pose a serious threat to both target and non-target species. miRNAs are one of the key epigenetic mechanisms that have been associated with toxicity by modulating the gene expression post-transcriptionally. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.toxrep.2020.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7225592PMC

Do microdeletions lead to immune deficiency?

Cent Eur J Immunol 2020 ;45(1):69-72

Department of Pediatric Allergy and Immunology, Dr Behçet Uz Children's Hospital, Izmir, Turkey.

Introduction: Microdeletion syndromes may be accompanied by immunological disorders. This study aimed to evaluate the clinical and laboratory data as well as the immune functions of patients diagnosed with a microdeletion syndrome.

Material And Methods: 39 patients diagnosed with microdeletion syndrome who were monitored at the Pediatric Genetics and Immunology clinics at Dr. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5114/ceji.2020.94671DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7226555PMC
January 2020

Complexities of Clinical Genetics Consultation: An Interprofessional Clinical Skills Workshop.

MedEdPORTAL 2020 01 24;16:10869. Epub 2020 Jan 24.

Professor, Department of Medicine, Biomedical Genetics Section, Boston University School of Medicine.

Introduction: Advances in genomic medicine contribute to increased demand for clinical genetics services and require physicians to understand the interprofessional practice of this field. Medical students receive a foundation in genetics during preclinical studies, but variability in clinical experience may limit knowledge of and recruitment into this clinical specialty. In this resource, we describe an approach for simulating exposure to the practice of clinical genetics during the core pediatrics clerkship. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.15766/mep_2374-8265.10869DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7182040PMC
January 2020

Increased T-cell counts in patients with 22q11.2 deletion syndrome who have anxiety.

Am J Med Genet A 2020 Jul 17;182(7):1815-1818. Epub 2020 Apr 17.

Division of Allergy Immunology, The Children's Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61588DOI Listing

Hypoplasia of Depressor Angularis Oris in a Male Neonate Associated with Cephalohematoma.

Cureus 2020 Mar 8;12(3):e7213. Epub 2020 Mar 8.

Pediatrics, Reading Hospital-Tower Health, West Reading, USA.

Congenital hypoplasia of depressor angularis oris muscle (CHDAOM) is an uncommon cause of asymmetric crying facies in neonates. Although its etiology is mostly unknown, it has been increasingly recognized as a marker for the presence of other less easily identifiable congenital abnormalities associated with genetic syndromes such as DiGeorge and Cayler syndrome. We report a unique case of a male neonate that highlights the necessity of judicious and accurate clinical documentation with the presence of CHDAOM to avoid unnecessary forms of subsequent work-up. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7759/cureus.7213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7138455PMC

EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children.

Front Immunol 2020 19;11:371. Epub 2020 Mar 19.

Laboratory for Immunology, Department of Pediatrics, Leiden University Medical Center (LUMC), Leiden, Netherlands.

The EuroFlow PID consortium developed a set of flow cytometry tests for evaluation of patients with suspicion of primary immunodeficiency (PID). In this technical report we evaluate the performance of the SCID-RTE tube that explores the presence of recent thymic emigrants (RTE) together with T-cell activation status and maturation stages and discuss its applicability in the context of the broader EuroFlow PID flow cytometry testing algorithm for diagnostic orientation of PID of the lymphoid system. We have analyzed peripheral blood cells of 26 patients diagnosed between birth and 2 years of age with a genetically defined primary immunodeficiency disorder: 15 severe combined immunodeficiency (SCID) patients had disease-causing mutations in ( = 4, two of them presented with Omenn syndrome), ( = 4, one of them with confirmed maternal engraftment), ( = 1), ( = 1), ( = 1), ( = 3, two of them with maternal engraftment) and ( = 1) and 11 other PID patients had diverse molecular defects [ ( = 1), ( = 2), ( = 1), ( = 1), del22q11. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fimmu.2020.00371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7096355PMC

A Collection of Pre-mRNA Splicing Mutants in .

G3 (Bethesda) 2020 Jun 1;10(6):1983-1996. Epub 2020 Jun 1.

Institute of Plant and Microbial Biology, Academia Sinica, 128, Sec. 2, Academia Rd., Nangang District, Taipei, 11529 Taiwan.

To investigate factors influencing pre-mRNA splicing in plants, we conducted a forward genetic screen using an alternatively-spliced reporter gene in This effort generated a collection of sixteen mutants impaired in various splicing-related proteins, many of which had not been recovered in any prior genetic screen or implicated in splicing in plants. The factors are predicted to act at different steps of the spliceosomal cycle, snRNP biogenesis pathway, transcription, and mRNA transport. We have described eleven of the mutants in recent publications. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1534/g3.119.400998DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7263676PMC

Integrative Analysis of NSCLC Identifies LINC01234 as an Oncogenic lncRNA that Interacts with HNRNPA2B1 and Regulates miR-106b Biogenesis.

Mol Ther 2020 Jun 19;28(6):1479-1493. Epub 2020 Mar 19.

Cancer Medical Center, The Second Affiliated Hospital of Nanjing Medical University, Nanjing 210011, Jiangsu, P.R. China. Electronic address:

The discovery of long noncoding RNAs (lncRNAs) has increased our understanding of the development and progression of many cancers, but their contributions to non-small cell lung cancer (NSCLC) remain poorly understood. Here, we profiled lncRNA expression in NSCLC and investigated in detail the molecular function of one upregulated lncRNA, LINC01234. LINC01234 was overexpressed in NSCLC compared with normal lung tissue and correlated positively with poor prognosis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymthe.2020.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7264428PMC
June 2020
6.227 Impact Factor

Infectious Esophagitis in Romanian Children: From Etiology and Risk Factors to Clinical Characteristics and Endoscopic Features.

J Clin Med 2020 Mar 30;9(4). Epub 2020 Mar 30.

Department of Microbiology, IuliuHatieganu University of Medicine and Pharmacy, 400151 Cluj-Napoca, Romania.

Objectives: The aim of this study is to provide information about prevalence, etiology, risk factors, clinical characteristics and endoscopic features of various types of infectious esophagitis in children.

Methods: We performed a total of 520 upper gastrointestinal tract endoscopies in Pediatric Clinic II, Emergency Hospital for Children, Cluj-Napoca. Indications for endoscopy in our cohort were gastrointestinal tract symptoms such as dysphagia, heartburn, or appetite loss. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/jcm9040939DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7230472PMC

miR-148a/LDLR mediates hypercholesterolemia induced by prenatal dexamethasone exposure in male offspring rats.

Toxicol Appl Pharmacol 2020 May 29;395:114979. Epub 2020 Mar 29.

Department of Pharmacology, Wuhan University School of Basic Medical Sciences, Wuhan 430071, China; Hubei Provincial Key Laboratory of Developmentally Originated Diseases, Wuhan 430071, China. Electronic address:

Epidemiology suggests that adverse environmental exposure during pregnancy may predispose children to hypercholesterolemia in adulthood. This study aimed to demonstrate hypercholesterolemia induced by prenatal dexamethasone exposure (PDE) in adult male offspring rats and explore the intrauterine programming mechanisms. Pregnant Wistar rats were injected subcutaneously with dexamethasone (0, 0. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.taap.2020.114979DOI Listing
May 2020
3.705 Impact Factor

Alternative techniques of right ventricular outflow tract reconstruction for surgical repair of truncus arteriosus.

Interact Cardiovasc Thorac Surg 2020 Jun;30(6):910-916

Pediatric and Congenital Cardiac Surgery Unit, Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padova, Padova, Italy.

Objectives: This study aimed to evaluate the outcomes and feasibility of different techniques of reconstruction of the right ventricular outflow tract (RVOT) in surgical repair of truncus arteriosus.

Methods: We retrospectively reviewed all consecutive patients with truncus arteriosus who underwent successful surgical repair in our centre between 1994 and 2017. We analysed late results according to the type of RVOT repair. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/icvts/ivaa025DOI Listing

CircLONP2 enhances colorectal carcinoma invasion and metastasis through modulating the maturation and exosomal dissemination of microRNA-17.

Mol Cancer 2020 03 18;19(1):60. Epub 2020 Mar 18.

Sun Yat-sen University Cancer Center; State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, China.

Background: Metastasis causes the vast majority of colorectal carcinoma (CRC)-related deaths. However, little is known about the specific traits and underlying mechanisms of metastasis-initiating cells in primary CRC. And whether or not circular RNAs (circRNAs) take part in this particular event remain not adequately stated yet. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12943-020-01184-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7079398PMC

Emergent Transcatheter Aortic Valve Replacement (TAVR) performed on patient with DiGeorge Syndrome.

Cardiovasc Revasc Med 2020 Mar 7. Epub 2020 Mar 7.

Houston Methodist Hospital, Department of Cardiothoracic Surgery, DeBakey Heart & Vascular Center, Houston, TX, USA. Electronic address:

Emergent Transcatheter Aortic Valve Replacement (TAVR) is a strategy that has been used for management of severely decompensated patients who are unlikely to tolerate an open procedure (Kolte et al., 2018). Recently, in the context of degenerated valve bioprosthesis, valve-in-valve (ViV) transcatheter aortic valve replacement has become an acceptable management strategy (Kalra et al. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.carrev.2020.03.011DOI Listing

Neonatal thymectomy in children-accelerating the immunologic clock?

J Allergy Clin Immunol 2020 Mar 10. Epub 2020 Mar 10.

Paediatric Immunology and Haematopoietic Stem Cell Transplantation, Great North Childrens' Hospital, Newcastle upon Tyne, United Kingdom; Primary Immunodeficiency Group, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom. Electronic address:

The thymus is critical for central tolerance and diverse T-lymphocyte repertoire development, to provide lifelong defense against pathogens while maintaining self-tolerance. Peak thymic output occurs in utero, during infancy, and in early childhood, diminishing throughout life. Infants with congenital heart disease requiring sternotomy often undergo thymectomy to clear the surgical field. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2020.02.028DOI Listing

T-cell Receptor Excision Circles in Newborns with Heart Defects.

Pediatr Cardiol 2020 Apr 13;41(4):809-815. Epub 2020 Mar 13.

Centre for Rare Disorders, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

In the fetus, the cardiac neural crest gives rise to both the thymus and the conotruncus of the heart. In newborn screening for severe T-cell lymphopenia neonates with congenital heart defects may be detected. In this study, we investigated the occurrence of T-cell lymphopenia in neonates with or without 22q11. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00246-020-02317-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7256077PMC

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 Immunol 2020 26;2020:8157212. Epub 2020 Feb 26.

Department of Pediatrics and Child Health, St. Paul's Hospital and Millennium Medical College, Addis Ababa, Ethiopia.

Background: Cellular primary immunodeficiencies are rarely reported from Africa. DiGeorge syndrome is a commonly recognized form of a congenital T-cell deficiency. The disorder is characterized by hypoplastic or aplastic thymus, hypocalcemia, recurrent infections, and other associated congenital defects. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2020/8157212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7061102PMC
February 2020

Complement Activation in 22q11.2 Deletion Syndrome.

J Clin Immunol 2020 Apr 9;40(3):515-523. Epub 2020 Mar 9.

Center for Rare Diseases, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

The 22q11.2 deletion syndrome (22q11.2 del), also known as DiGeorge syndrome, is a genetic disorder with an estimated incidence of 1:3000 to 1:6000 births. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-020-00766-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7142058PMC

Complex Reoperation in a Patient With DiGeorge Syndrome.

J Cardiothorac Vasc Anesth 2020 Jun 1;34(6):1655-1662. Epub 2020 Feb 1.

Department of Anesthesia and Critical Care, University of Chicago, Chicago, IL. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1053/j.jvca.2020.01.044DOI Listing

A late preterm infant with lymphopenia.

Allergy Asthma Proc 2020 03;41(2):141-143

The newborn screen for severe combined immunodeficiency (SCID) uses real-time quantitative polymerase chain reaction for T-cell receptor excision circles and is highly sensitive for SCID. However, T-cell lymphopenia from other primary and secondary causes, such as DiGeorge syndrome, prematurity, thymic involution from stress, and thymectomy during cardiac surgery, is also detected. We present a newborn girl with T-cell lymphopenia of unknown etiology detected abnormal newborn screen. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2500/aap.2019.40.190015DOI Listing

The Genetics and Epigenetics of 22q11.2 Deletion Syndrome.

Front Genet 2019 6;10:1365. Epub 2020 Feb 6.

Department of Immunology, The University of Texas Southwestern Medical Center, Dallas, TX, United States.

Chromosome 22q11.2 deletion syndrome (22q11.2del) is a complex, multi-organ disorder noted for its varying severity and penetrance among those affected. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2019.01365DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7016268PMC
February 2020

A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness.

J Endocr Soc 2020 Feb 29;4(2):bvz028. Epub 2019 Nov 29.

Sharjah Institute for Medical Research (SIMR), Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.

Background: The TBX1 gene encodes the T-box 1 protein that is a transcription factor involved in development. Haploinsufficiency of the TBX1 gene is reported to cause features similar to DiGeorge syndrome. The TBX1 gene is located within the DiGeorge syndrome region, and studies support that the TBX1gene is responsible for most of the features of the phenotype of hemizygous deletion of chromosome 22q11. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jendso/bvz028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041699PMC
February 2020

Unexpected combination: DiGeorge syndrome and myeloperoxidase deficiency.

BMJ Case Rep 2020 Feb 26;13(2). Epub 2020 Feb 26.

Immunology, St James's Hospital, Dublin, Ireland.

We report a case of a 3-year-old boy who presented with recurrent bacterial and fungal infections and a known diagnosis of partial DiGeorge (22q11.2 deletion) syndrome. The nature and severity of his infections were more than normally expected in partial DiGeorge syndrome with normal T-cell counts and T-cell proliferative response to phytohaemagglutinin. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2019-232741DOI Listing
February 2020

Metabolic Parameters in Patients with Prader-Willi Syndrome and DiGeorge Syndrome with Respect to Psychopathological Manifestation.

Neuropsychiatr Dis Treat 2020 14;16:457-463. Epub 2020 Feb 14.

Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.

Purpose: The purpose of our study was to compare the metabolic parameters in two genetic syndromes with a proven high risk of developing psychiatric comorbidities. These comorbidities, especially mood and psychotic disorders, may be associated with a risk of obesity, type 2 diabetes and other components of metabolic syndrome regardless of antipsychotic treatment.

Patients And Methods: Two groups of children diagnosed with Prader - Willi syndrome (PWS) (n = 20) and DiGeorge syndrome (DGS) (n = 18), aged 7-18 years, were enrolled. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2147/NDT.S236034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7027883PMC
February 2020

Ruptured Sinus of Valsalva Aneurysm Mimicking Infective Endocarditis in DiGeorge Syndrome.

J Cardiovasc Echogr 2019 Oct-Dec;29(4):177-179

Department of Pediatric Cardiology, Cleveland Clinic Children's Hospital, Cleveland, Ohio, USA.

Sinus of Valsalva aneurysm (SOVA) is rare and can occur in diseases with progressive aortic dilation. We report an adolescent male with DiGeorge syndrome who presented with fever and wide pulse pressure mimicking endocarditis. A timely diagnosis of ruptured SOVA using echocardiography enabled optimal treatment. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/jcecho.jcecho_37_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7011494PMC
February 2020

Persistent Feeding and Swallowing Deficits in a Mouse Model of 22q11.2 Deletion Syndrome.

Front Neurol 2020 31;11. Epub 2020 Jan 31.

Department of Otolaryngology Head and Neck Surgery, School of Medicine, University of Missouri, Columbia, MO, United States.

Disrupted development of oropharyngeal structures as well as cranial nerve and brainstem circuits may lead to feeding and swallowing difficulties in children with 22q11. 2 deletion syndrome (22q11DS). We previously demonstrated aspiration-based dysphagia during early postnatal life in the mouse model of 22q11DS along with disrupted oropharyngeal morphogenesis and divergent differentiation and function of cranial motor and sensory nerves. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fneur.2020.00004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7006055PMC
January 2020

Use of Infliximab in the Treatment of Macrophage Activation Syndrome Complicating Kawasaki Disease.

J Pediatr Hematol Oncol 2020 Feb 19. Epub 2020 Feb 19.

Pediatric Department, Medica Sur Hospital.

Kawasaki disease (KD) is an acute systemic vasculitis of unknown etiology. KD can be complicated with macrophage activation syndrome. The optimal treatment for this KD complication has not been established, and a variety of treatments have been used. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPH.0000000000001756DOI Listing
February 2020

HIRA, a DiGeorge Syndrome Candidate Gene, Confers Proper Chromatin Accessibility on HSCs and Supports All Stages of Hematopoiesis.

Cell Rep 2020 Feb;30(7):2136-2149.e4

Molecular Genetics of Immunity Section, Division of Developmental Biology, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

HIRA is a histone chaperone that deposits the histone variant H3.3 in transcriptionally active genes. In DiGeorge syndromes, a DNA stretch encompassing HIRA is deleted. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.celrep.2020.01.062DOI Listing
February 2020

Transcriptional dysregulation in developing trigeminal sensory neurons in the LgDel mouse model of DiGeorge 22q11.2 deletion syndrome.

Hum Mol Genet 2020 Apr;29(6):1002-1017

Institute for Neuroscience, The George Washington University, Washington, DC 20037, USA.

LgDel mice, which model the heterozygous deletion of genes at human chromosome 22q11.2 associated with DiGeorge/22q11.2 deletion syndrome (22q11DS), have cranial nerve and craniofacial dysfunction as well as disrupted suckling, feeding and swallowing, similar to key 22q11DS phenotypes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddaa024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7158380PMC

CLINICAL AND GENETIC FINDINGS IN A CHINESE COHORT OF PATIENTS WITH DIGEORGE SYNDROME-RELATED HYPOPARATHYROIDISM.

Endocr Pract 2020 Jun 11;26(6):642-650. Epub 2020 Feb 11.

Patients with DiGeorge syndrome (DGS) are undiagnosed due to its diverse manifestations. We aimed to characterize the clinical manifestations in a group of Chinese patients of DGS with childhood-onset hypoparathyroidism (HP) as the primary referral, and to report a novel mutation. In this single-center observational study, clinical features and biochemical indices were recorded in 26 patients with DGS and 114 patients with idiopathic HP (IHP). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4158/EP-2019-0498DOI Listing

Essential role of the family-dosage in DiGeorge-like anomaly and metabolic homeostasis.

Life Sci Alliance 2020 02 10;3(2). Epub 2020 Feb 10.

RIKEN Integrative Medical Sciences, Tsurumi, Yokohama, Kanagawa, Japan

and () encode adapter proteins with similar biochemical properties. Here, we show that a 50% reduction of the family-combined dosage generates developmental defects, including aspects of DiGeorge/del22q11 syndrome in mice. Like the mouse homologs of two 22q11. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.26508/lsa.201900635DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7010317PMC
February 2020

Meta-analysis of olfactory dysfunction in 22q11.2 deletion syndrome.

Psychiatry Res 2020 Jan 16;285:112783. Epub 2020 Jan 16.

Department of Psychiatry, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA; Lifespan Brain Institute (LiBi), University of Pennsylvania Perelman School of Medicine and Children's Hospital of Philadelphia, PA, USA.

A quantitative review of literature concerning olfactory function in 22q11.2 deletion syndrome (22q11DS) patients was performed detailing the scope/magnitude of deficits and probing possible moderators. We searched MEDLINE, EMBASE and PubMed to identify studies for inclusion. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.psychres.2020.112783DOI Listing
January 2020

Adult Aortotracheal Fistula as Sequela of Double Aortic Arch Repair in Infancy: A Case Report.

Ann Otol Rhinol Laryngol 2020 Jul 31;129(7):649-652. Epub 2020 Jan 31.

Department of Otolaryngology, Vanderbilt University Medical Center, Nashville, TN, USA.

Introduction: Double aortic arch is a rare congenital malformation of the aortic arch that most frequently presents in childhood. Early surgical intervention typically yields excellent outcomes.

Objectives: To describe aortotracheal fistula as a rare, yet serious complication of vascular ring and subsequent aortic aneurysm in an adult patient. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0003489420904739DOI Listing

Algorithm for the diagnosis of patients with neurodevelopmental disorders and suspicion of a genetic syndrome.

Arch Argent Pediatr 2020 Feb;118(1):52-55

Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.

The wide range of chromosome aberrations seen in neurodevelopmental disorders may not always be characterized by means of a chromosome analysis. The objective of this study was to determine the genetic etiology of these disorders in patients with congenital neurological conditions and clinical suspicion of a genetic disorder using a clinical and molecular testing algorithm. Among 111 studied children, 71 showed submicroscopic chromosome aberrations associated with microdeletion/microduplication syndromes: DiGeorge (22 cases), Prader-Willi (26 cases), Angelman (2 cases), WilliamsBeuren (17 cases), Smith-Magenis (1 case), Miller-Dieker (1 case), and syndrome (1 case). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5546/aap.2020.eng.52DOI Listing
February 2020

Defining Risk of Postoperative Obstructive Sleep Apnea in Patients With 22q11.2DS Undergoing Pharyngeal Flap Surgery for Velopharyngeal Dysfunction Using Polysomnographic Evaluation.

Cleft Palate Craniofac J 2020 Jul 24;57(7):808-818. Epub 2020 Jan 24.

Division of Plastic and Reconstructive Surgery, The Children's Hospital of Philadelphia, PA, USA.

Objective: To determine pre- and postoperative prevalence of obstructive sleep apnea (OSA) in patients with 22q11.2 deletion syndrome (DS) undergoing wide posterior pharyngeal flap (PPF) surgery for velopharyngeal dysfunction (VPD).

Design: Retrospective study using pre- and postoperative polysomnography (PSG) to determine prevalence of OSA. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1055665619900871DOI Listing