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    2365 results match your criteria DiGeorge Syndrome

    1 OF 48

    Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.
    J Clin Immunol 2017 May 24. Epub 2017 May 24.
    The 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
    Purpose: Chromosome 22q11.2 deletion syndrome (22q11.2DS), the most common cause of DiGeorge syndrome, is quite variable. Read More

    Prevalence and treatment of psychiatric disorders other than psychosis in children and adolescents with 22q11DS: Examining associations with social and role functioning.
    Psychiatry Res 2017 Aug 18;254:238-243. Epub 2017 Apr 18.
    Child and Adolescence Neuropsychiatry Unit, Department of Neuroscience, Children Hospital Bambino Gesù, Piazza Sant'Onofrio 4, 00100 Rome, Italy.
    Individuals with chromosome 22q11 deletion syndrome (22q11DS) have high rates of psychotic disorders. Less is known about their psychopathology and how it is treated prior to the peak period of risk for psychotic disorder. There is also a lack of evidence on how functioning is impacted by psychopathology in this population. Read More

    Murine model indicates 22q11.2 signaling adaptor CRKL is a dosage-sensitive regulator of genitourinary development.
    Proc Natl Acad Sci U S A 2017 May 24;114(19):4981-4986. Epub 2017 Apr 24.
    Department of Molecular & Cellular Biology, Baylor College of Medicine, Houston, TX 77030;
    The spectrum of congenital anomalies affecting either the upper tract (kidneys and ureters) or lower tract (reproductive organs) of the genitourinary (GU) system are fundamentally linked by the developmental origin of multiple GU tissues, including the kidneys, gonads, and reproductive ductal systems: the intermediate mesoderm. Although ∼31% of DiGeorge/del22q11.2 syndrome patients exhibit GU defects, little focus has been placed on the molecular etiology of GU defects in this syndrome. Read More

    DiGeorge-like syndrome in a child with a 3p12.3 deletion involving MIR4273 gene born to a mother with gestational diabetes mellitus.
    Am J Med Genet A 2017 Apr 24. Epub 2017 Apr 24.
    Department of Translational Medical Sciences, Pediatric section, Federico II University, Naples, Italy.
    Chromosome 22q11.2 deletion is the most common chromosomal alteration associated with DiGeorge syndrome (DGS), even though this is not the only underlying cause of DGS. In rare patients, mutations in a single gene, TBX1, have been described resulting in a DGS phenotype. Read More

    Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome.
    Am J Med Genet A 2017 May 16;173(5):1301-1308. Epub 2017 Feb 16.
    Pediatric Endocrinology and Diabetes Unit, The Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
    22q11.2 deletion syndrome (22q11.2DS) has a wide range of clinical features including endocrine abnormalities. Read More

    Thymus transplantation for complete DiGeorge syndrome: European experience.
    J Allergy Clin Immunol 2017 Apr 8. Epub 2017 Apr 8.
    Infection, Immunity and Inflammation Theme, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
    Background: Thymus transplantation is a promising strategy for the treatment of athymic complete DiGeorge syndrome (cDGS).

    Methods: Twelve patients with cDGS underwent transplantation with allogeneic cultured thymus.

    Objective: We sought to confirm and extend the results previously obtained in a single center. Read More

    Endo-siRNA deficiency results in oocyte maturation failure and apoptosis in porcine oocytes.
    Reprod Fertil Dev 2017 Apr 12. Epub 2017 Apr 12.
    Both microRNAs (miRNAs) and endogenous small interfering RNAs (endo-siRNAs) play key regulatory roles in gene expression. Some studies have demonstrated that the function of miRNA is suppressed in mouse oocytes, suggesting that endo-siRNA, not miRNA, is essential for female meiosis. This finding has yet to be confirmed in other species. Read More

    [Prenatal diagnosis of 22q11 microdeletion syndrome].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Apr;34(2):192-195
    Fujian Hospital for Material and Child Health Care, Fuzhou, Fujian 350001, China.
    Objective: To establish a method for the prenatal diagnosis of 22q11 microdeletion syndrome.

    Methods: BACs-on-Beads (BoBs) and fluorescence in situ hybridization (FISH) were performed on a fetus for whom amniotic chromosomal culturing has failed and a pair of twin fetuses suspected for 22q11 deletion syndrome.

    Results: 22q11 microdeletion was detected in all 3 fetuses by prenatal BoBs as well as FISH, with only one red signal detected at the DiGeorge/VCFS N25 site and two green signals on the 22q13. Read More

    Risk of malignancy in 22q11.2 deletion syndrome.
    Clin Case Rep 2017 Apr 2;5(4):486-490. Epub 2017 Mar 2.
    Department of Pediatric Hematology OncologyUZ BrusselBrusselsBelgium; Department of PediatricsQueen Paola Children's HospitalAntwerpBelgium.
    22q11.2DS is a significant health problem because of its fairly high incidence. It is relevant to be vigilant regarding the diagnosis of cancer amongst 22q11. Read More

    Association of airway abnormalities with 22q11.2 deletion syndrome.
    Int J Pediatr Otorhinolaryngol 2017 May 21;96:11-14. Epub 2017 Feb 21.
    22q and You and Clinical Genetics Centers, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. Electronic address:
    Introduction: 22q11.2 deletion syndrome (22q11.2DS) presents with complex but variable symptoms, including cardiac, immune, palatal, endocrine, cognitive, and psychiatric issues. Read More

    An Adult Case of Chromosome 22q11.2 Deletion Syndrome Associated with a High-positioned Right Aortic Arch.
    Intern Med 2017 1;56(7):865-872. Epub 2017 Apr 1.
    Department of Internal Medicine, Keiaido Hospital, Japan.
    Chromosome 22q11.2 deletion syndrome (22q11.2 DS) has a very wide phenotypic spectrum that includes dysmorphic features, cardiac anomalies, and hypocalcemia arising from hypoparathyroidism. Read More

    Social cognitive impairment in 22q11 deletion syndrome: A review.
    Psychiatry Res 2017 Jul 23;253:99-106. Epub 2017 Feb 23.
    Department of Psychiatry, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, United States; Department of Psychiatry, Harvard Medical School, 25 Shattuck Street, Boston, MA 02115, United States.
    Individuals with 22q11.2 deletion syndrome (22q11DS) exhibit a broad array of physical and psychiatric features, of which impaired social cognition and poor social functioning are common. This review seeks to (1) characterize the current understanding of impairment across social cognitive domains in the context of 22q11DS, and (2) synthesize the relevant literature on social cognition and psychosis, given that the prevalence of psychosis in 22q11DS is especially high compared to the general population. Read More

    Programmatic Approach to Management of Tetralogy of Fallot With Major Aortopulmonary Collateral Arteries: A 15-Year Experience With 458 Patients.
    Circ Cardiovasc Interv 2017 Apr;10(4)
    From the Departments of Pediatrics (H.B.-H., A.B., B.H., M.L., R.A., A.K., C.A.A., S.B.P., A.S., L.F.P., D.B.M.), Anesthesia (L.D., L.W.-F.), and Cardiothoracic Surgery (F.L.H., D.B.M.), Lucile Packard Children's Hospital Heart Center Clinical and Translational Research Program, Stanford University School of Medicine, Palo Alto, CA.
    Background: Tetralogy of Fallot with major aortopulmonary collateral arteries is a complex and heterogeneous condition. Our institutional approach to this lesion emphasizes early complete repair with the incorporation of all lung segments and extensive lobar and segmental pulmonary artery reconstruction.

    Methods And Results: We reviewed all patients who underwent surgical intervention for tetralogy of Fallot and major aortopulmonary collateral arteries at Lucile Packard Children's Hospital Stanford (LPCHS) since November 2001. Read More

    Reduced dosage of β-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndrome.
    PLoS Genet 2017 Mar 27;13(3):e1006687. Epub 2017 Mar 27.
    Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, United States of America.
    The 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome; DiGeorge syndrome) is a congenital anomaly disorder in which haploinsufficiency of TBX1, encoding a T-box transcription factor, is the major candidate for cardiac outflow tract (OFT) malformations. Read More

    Heterotopic Ossification in a Newborn: A Case Report.
    Eplasty 2016 27;16:e37. Epub 2016 Dec 27.
    King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
    Introduction: Heterotopic ossification is defined as the formation of trabecular bone that forms outside the normal sites of the skeletal structure, materializing in soft tissue where it does not usually exist. Methods/Case Report: This is a case report of a 27-day-old baby with a diagnosis of DiGeorge syndrome who developed heterotopic ossification on the dorsum of his right hand. Discussion: Heterotopic ossification in the pediatric population is a rare finding. Read More

    Overexpression of Drosha, DiGeorge syndrome critical region gene 8 (DGCR8), and Dicer mRNAs in the pathogenesis of psoriasis.
    J Cosmet Dermatol 2017 Mar 25. Epub 2017 Mar 25.
    Department of Dermatology, Imam Khomeini Hospital, Ardebil University of Medical Sciences, Ardabil, Iran.
    Introduction: Psoriasis is a complex autoimmune inflammatory disease that occurs in genetically susceptible individuals and presents with the development of inflammatory plaques on the skin. Recent studies have indicated that microRNAs (miRNAs) play important roles in psoriasis.

    Objective: To investigate whether expression of Drosha, DGCR8, and Dicer mRNAs is involved in the pathogenesis of psoriasis. Read More


    Prevalence of hearing loss and clinical otologic manifestations in patients with 22q11.2 deletion syndrome: A literature review.
    Clin Otolaryngol 2017 Mar 21. Epub 2017 Mar 21.
    Department of Otorhinolaryngology - Head and Neck Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.
    Background: Hearing loss and otitis media are frequently reported in patients with 22q11.2 deletion syndrome.

    Objective Of Review: Our objective was to review the current literature on the prevalence of hearing loss and otologic manifestations in patients with 22q11. Read More

    Indomethacin induced and prostaglandin relieved coarctation of the aorta in right aortic arch with left arterial duct: a case report.
    Cardiol Young 2017 Jul 6;27(5):1026-1029. Epub 2017 Mar 6.
    Department of Paediatrics,Western University,London,Ontario,Canada.
    We describe the case of an infant with DiGeorge syndrome born with a right aortic arch and left arterial duct. Despite the remote location of the right aortic arch from the left arterial duct, he developed coarctation of the aorta during treatment with indomethacin. This was relieved by prostaglandin treatment. Read More

    [An attempt to identify 22q11.2 microdeletions in samples of the Hungarian schizophrenia DNA bank by multiplex ligation-based probe amplification (MLPA): literature review, methodology and results].
    Neuropsychopharmacol Hung 2016 Dec;18(4):209-218
    MTA-SE NAP-B, Molecular Psychiatry and in vitro Disease Modelling Research Group, Budapest, Hungary.
    Schizophrenia is a severe debilitating psychiatric disorder, with a typical onset in adolescence or early adulthood. This condition is characterized by heterogeneous symptoms (hallucinations, delusions, disorganized behaviour, affective flattening, and social isolation) and a life-time prevalence of 0.5-1. Read More

    Germline-specific dgcr8 knockout in zebrafish using a BACK approach.
    Cell Mol Life Sci 2017 Jul 21;74(13):2503-2511. Epub 2017 Feb 21.
    School of Biomedical Sciences, The Chinese University of Hong Kong, Hong Kong, China.
    Zebrafish is an important model to study developmental biology and human diseases. However, an effective approach to achieve spatial and temporal gene knockout in zebrafish has not been well established. In this study, we have developed a new approach, namely bacterial artificial chromosome-rescue-based knockout (BACK), to achieve conditional gene knockout in zebrafish using the Cre/loxP system. Read More

    Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate.
    Adv Biomed Res 2016 27;5:201. Epub 2016 Dec 27.
    Isfahan Cleft Lip and Palate Clinic, Faculty of Rehabilitation, Isfahan University of Medical Sciences, Isfahan, Iran; Department of Surgery, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
    Background: 22q11.2 microdeletion syndrome is the most common multiple genetic disorder associated with learning disabilities, developmental delays, immune deficiency, hypocalcemia, and cleft palate. Finding some valid criteria for screening of 22q11. Read More

    The social brain network in 22q11.2 deletion syndrome: a diffusion tensor imaging study.
    Behav Brain Funct 2017 Feb 16;13(1). Epub 2017 Feb 16.
    Department of Psychiatry, SUNY Upstate Medical University, 750 E. Adams St., Syracuse, NY, 13210, USA.
    Background: Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a neurogenetic disorder that is associated with a 25-fold increase in schizophrenia. Read More

    Subthreshold Psychosis in 22q11.2 Deletion Syndrome: Multisite Naturalistic Study.
    Schizophr Bull 2017 Feb 13. Epub 2017 Feb 13.
    The Behavioral Neurogenetics Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.
    Nearly one-third of individuals with 22q11.2 deletion syndrome (22q11.2DS) develop a psychotic disorder during life, most of them by early adulthood. Read More

    Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations.
    Brain Dev 2017 Jun 13;39(6):539-541. Epub 2017 Feb 13.
    Metabolic Unit, Hospital de Dona Estefânia, Lisbon, Portugal.
    Lately, microdeletions of the 22q region, responsible for DiGeorge syndrome or velocardiofacial syndrome, have been increasingly related to neuropsychiatric disorders including schizophrenia and bipolar disorder. These manifestations seem to be related to certain genes located in the hemideleted region such as the proline dehydrogenase (PRODH) and the catechol-o-methyltransferase (COMT) genes. We describe a teenager who started his adolescent psychiatric care presenting cognitive impairment, irritable mood and aggressive behaviour with schizophrenia-like symptoms that scored 153 in the Positive and Negative Symptoms Scale (PANSS) assessment. Read More

    Right Aortic Arch with a Retroesophageal Left Subclavian Artery and an Anomalous Origin of the Pulmonary Artery from the Aorta.
    Korean J Thorac Cardiovasc Surg 2017 Feb 5;50(1):44-46. Epub 2017 Feb 5.
    Department of Thoracic and Cardiovascular Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine.
    We report the case of a newborn with a rare anatomic variation: a right aortic arch with a retroesophageal left subclavian artery and an anomalous origin of the pulmonary artery from the aorta. This variation was diagnosed using echocardiography and computed tomography, and we treated the condition surgically. Read More

    Afebrile Seizures as Initial Symptom of Hypocalcemia Secondary to Hypoparathyroidism.
    J Neurosci Rural Pract 2016 Dec;7(Suppl 1):S117-S119
    Department of Pediatric, General Hospital of Veroia, Pediatric Clinic, Veroia, Greece.
    Hypocalcemia is rare in childhood and caused, among other conditions, by hypoparathyroidism. DiGeorge syndrome is the most common cause of hypoparathyroidism in childhood. Presentation of a rare cause of hypocalcemia in childhood and the necessity of measuring serum electrolyte levels in patients presenting with afebrile seizures. Read More

    The plethora, clinical manifestations and treatment options of autoimmunity in patients with primary immunodeficiency.
    Turk Pediatri Ars 2016 Dec 1;51(4):186-192. Epub 2016 Dec 1.
    Department of Peditarics, Division of Allergy and Immunology, Marmara University Pendik Training and Research Hospital, İstanbul, Turkey.
    Aim: Although the association between primary immunodeficiency and autoimmunity is already well-known, it has once again become a topic of debate with the discovery of newly-defined immunodeficiencies. Thus, investigation of the mechanisms of development of autoimmunity in primary immunodefficiency and new target-specific therapeutic options has come to the fore. In this study, we aimed to examine the clinical findings of autoimmunity, autoimmunity varieties, and treatment responses in patients who were genetically diagnosed as having primary immunodeficiency. Read More

    Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
    N Engl J Med 2017 02 25;376(8):742-754. Epub 2017 Jan 25.
    From the Division of Nephrology (E.L.-R., M.V., V.P.C., Z.Y., A.M., J.M., N.J.S., D.A.F., R.D., M.W., G.S.M., M.B., J.M.B., K.K., A.G.G., S.S.-C.) and the Division of Nephrology in Medicine and Zuckerman Mind Brain Behavior Institute (B.H.), the Departments of Systems Biology (D.S.P., B.H.), Biochemistry and Molecular Biophysics (B.H.), and Pathology (V.D.), and the Howard Hughes Medical Institute (D.S.P., B.H.), Columbia University, and the Department of Genetics and Development, Columbia University Medical Center (Q.L., V.E.P.), New York, and the Department of Genetics, Albert Einstein College of Medicine, Bronx (S.E.R., B.E.M.) - all in New York; the Center for Human Disease Modeling, Duke University, Durham, NC (Y.P.L., B.R.A., N. Katsanis); the Departments of Internal Medicine-Nephrology (E.A.O.) and Pediatrics-Nephrology (M.G.S., C.E.G., V.V.-W.), University of Michigan School of Medicine, Ann Arbor; the Department of Anatomy, Histology, and Embryology, School of Medicine, University of Split (K.V., M.S.-B.), and the Departments of Pediatrics (A.A., M. Saraga) and Pathology (N. Kunac), University Hospital of Split, Split, Croatia; the Department of Pediatric Nephrology, VU University Medical Center, Amsterdam (R.W., J.A.E.W.); the Department of Medicine, Boston Children's Hospital (A.V., F.H.), and Harvard Medical School, Boston (A.V., F.H., I.A.D.), and the Nephrology Division, Massachusetts General Hospital, Charlestown (I.A.D.) - all in Massachusetts; the Division of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa (M.B., A.C., G.M.G.), the Department of Clinical and Experimental Medicine, University of Parma (M.B., M. Maiorana, L.A.), and the Pediatric Surgery Unit, University Hospital of Parma (E.C.), Parma, the Section of Nephrology, Department of Emergency and Organ Transplantation, University of Bari, Bari (L.G.), the Department of Medical Sciences, University of Milano, and Institute of Biomedical Technologies, Italian National Institute of Research ITB-CNR, Milan (D.C.), and Dipartimento Ostetrico-Ginecologico e Seconda Divisione di Nefrologia ASST Spedali Civili e Presidio di Montichiari (C.I.) and Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari (F.S.), Brescia - all in Italy; the Department of General and Transplant Surgery, University Hospital of Heidelberg, Germany (V.J.L.); the Department of Pediatric Nephrology, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (R.S., L.H., C.J.), INSERM UMR 1163, Laboratory of Hereditary Kidney Diseases (R.S.), Necker-Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cite University, Imagine Institute (R.S.), Sorbonne Universités, UPMC 06, Plateforme Post-génomique de la Pitié-Salpêtrière, UMS 2 Omique, Inserm US029 (W.C.), Paris, and the Department of Genetics, Centre Hospitalier Universitaire de Reims, Unité de Formation et de Recherche de Médecine, Reims (D.G.) - both in France; the Department of Neurology, University of Washington School of Medicine, and Northwest VA Parkinson's Disease Research, Education and Clinical Centers, Seattle (A. Samii); the Division of Human Genetics, Department of Pediatrics, 22q and You Center, Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania (D.M.M.-M., T.B.C., E.H.Z., S.L.F.), Division of Nephrology, Children's Hospital of Philadelphia (S.L.F.), and the Department of Genetics, University of Pennsylvania (H.H.), Philadelphia; the Dialysis Unit, Jagiellonian University Medical College (D.D.), and the Department of Pediatric Nephrology, Jagiellonian University Medical College (M. Miklaszewska), Krakow, the Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz (M.T.), the Department of Pediatric Nephrology Medical University of Lublin, Lublin (P.S.), the Department of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice (M. Szczepanska), the Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw (M.M.-W., G.K., A. Szmigielska), and Krysiewicza Children's Hospital (M.Z.) and the Department of Medical Genetics, Poznan University of Medical Sciences, and Center for Medical Genetics GENESIS (A.L.-B., A.M.-K.), Poznań - all in Poland; the Department of Clinical Genetics (J.M.D., D.B.), National Children's Research Centre (J.M.D., P.P.), and University College Dublin School of Medicine (D.B.), Our Lady's Children's Hospital Crumlin, and the National Children's Hospital Tallaght (P.P.), Dublin, Ireland; the Division of Pediatric Nephrology, Children's Mercy Hospital, Kansas City, MO (B.A.W.); University Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia (Z.G., V.T.); Faculty of Medicine, Palacky University, Olomouc, Czech Republic (H.F.); the Division of Pediatric Nephrology, University of New Mexico Children's Hospital, Albuquerque (C.S.W.); Ben May Department for Cancer Research, University of Chicago, Chicago (A.I.); and the Department of Genetics, Howard Hughes Medical Institute, and Yale Center for Mendelian Genomics, Yale University, New Haven, CT (R.P.L.).
    Background: The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2; the genetic driver of the kidney defects is unknown. Read More

    Risk of Psychiatric Disorders Among Individuals With the 22q11.2 Deletion or Duplication: A Danish Nationwide, Register-Based Study.
    JAMA Psychiatry 2017 Mar;74(3):282-290
    Institute of Biological Psychiatry, Mental Health Centre Sct. Hans, Copenhagen University Hospital, Roskilde, Denmark2iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Lundbeck, Denmark5Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
    Importance: Microdeletions and duplications have been described at the 22q11.2 locus. However, little is known about the clinical and epidemiologic consequences at the population level. Read More

    Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome.
    Neural Plast 2016 26;2016:5836143. Epub 2016 Dec 26.
    School of Life Sciences, Tsinghua University, Beijing, China.
    The patients with DiGeorge syndrome (DGS), caused by deletion containing dozens of genes in chromosome 22, often carry cardiovascular problem and hearing loss associated with chronic otitis media. Inside the deletion region, a transcription factor TBX1 was highly suspected. Furthermore, similar DGS phenotypes were found in the Tbx1 heterozygous knockout mice. Read More

    MicroRNA-processing Enzymes Are Essential for Survival and Function of Mature Retinal Pigmented Epithelial Cells in Mice.
    J Biol Chem 2017 Feb 19;292(8):3366-3378. Epub 2017 Jan 19.
    From the Departments of Pharmacology and
    Age-related macular degeneration (AMD) is a major cause of irreversible vision loss. The neovascular or "wet" form of AMD can be treated to varying degrees with anti-angiogenic drugs, but geographic atrophy (GA) is an advanced stage of the more prevalent "dry" form of AMD for which there is no effective treatment. Development of GA has been linked to loss of the microRNA (miRNA)-processing enzyme DICER1 in the mature retinal pigmented epithelium (RPE). Read More

    Working Memory Impairments in Chromosome 22q11.2 Deletion Syndrome: The Roles of Anxiety and Stress Physiology.
    J Autism Dev Disord 2017 Apr;47(4):992-1005
    Department of Psychology, University of New Orleans, 2000 Lakeshore Drive, New Orleans, LA, 70148, USA.
    Stress and anxiety have a negative impact on working memory systems by competing for executive resources and attention. Broad memory deficits, anxiety, and elevated stress have been reported in individuals with chromosome 22q11.2 deletion syndrome (22q11. Read More

    An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome.
    Sci Rep 2017 Jan 6;7:40031. Epub 2017 Jan 6.
    Genetics of Male Fertility Group, Unitat de Biologia Cel·lular (Facultat de Biociències), Universitat Autònoma de Barcelona, 08193-Bellaterra (Cerdanyola del Vallès), Spain.
    DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a disorder caused by a 22q11.2 deletion mediated by non-allelic homologous recombination (NAHR) between low-copy repeats (LCRs). We have evaluated the role of LCR22 genomic architecture and PRDM9 variants as DGS/VCFS predisposing factors. Read More

    Tbx1: Transcriptional and Developmental Functions.
    Curr Top Dev Biol 2017 1;122:223-243. Epub 2016 Sep 1.
    University of Salerno, Fisciano, Italy. Electronic address:
    Recent data have paved the way to mechanistic studies into the role of Tbx1 during development. Tbx1 is haploinsufficient and is involved in an important genetic disorder. The gene encodes a T-box transcription factor that is expressed from approximately E7. Read More

    Outcomes of Truncus Arteriosus Repair in Children: 35 Years of Experience From a Single Institution.
    Semin Thorac Cardiovasc Surg 2016 Summer;28(2):500-511
    Department of Cardiac Surgery, Royal Children׳s Hospital, Melbourne, Australia; University of Melbourne, Melbourne, Australia; Murdoch Children׳s Research Institute, Melbourne, Australia. Electronic address:
    We evaluated the long-term outcomes following repair of truncus arteriosus (TA) from a single institution. We conducted a retrospective review of children (n = 171) who underwent TA repair between 1979 and 2014. Early mortality rate was 11. Read More

    Alagille Syndrome: A Case Report Highlighting Dysmorphic Facies, Chronic Illness, and Depression.
    Case Rep Psychiatry 2016 27;2016:1657691. Epub 2016 Nov 27.
    Department of Psychiatry, The Pennsylvania State University College of Medicine, Hershey, PA, USA.
    Alagille syndrome is a rare multisystem disorder affecting the liver, heart, vertebrae, eyes, and face. Alagille syndrome shares multiple phenotypic variants of other congenital or chronic childhood illnesses such as DiGeorge syndrome, Down syndrome, spina bifida, type 1 diabetes mellitus, and cystic fibrosis. All of these chronic illnesses have well-established links to psychiatric conditions. Read More

    [Autoimmune disorder secondary to DiGeorge syndrome: a long-term follow-up case report and literature review].
    Beijing Da Xue Xue Bao 2016 Dec;48(6):1086-1089
    Department of Pediatric, Peking University First Hospital, Beijing 100034, China.
    DiGeorge syndrome is the most common chromosome microdeletion disease. The classical complications include congenital heart disease, hypothyroidism, immunodeficiency, facial abnormalities, and hypocalcemia. According to whether there is an absence or hypoplasia of the thymus, DiGeorge syndrome can be divided into two types, complete DiGeorge syndrome and partial DiGeorge syndrome. Read More

    22q11 Deletion Syndrome and Urogenital Manifestations: A Clinicopathological Case Report.
    Front Med (Lausanne) 2016 28;3:53. Epub 2016 Nov 28.
    Department of Gynecology and Obstetrics, HNE , Neuchâtel , Switzerland.
    Background: Deletion in the chromosomal region 22q11 results from the abnormal development of the third and fourth pharyngeal pouches during embryonic life and presents an expansive phenotype with more than 180 clinical features described that involve every organ and system.

    History And Signs: A 23-year-old African woman presented for the first trimester echography, which revealed an isolated anechoic structure suggesting a ureteral dilatation. The suspicion of a malposition of great arteries in the second trimester indicated an amniocentesis leading to a diagnosis of 22q11 deletion. Read More

    Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports.
    Case Rep Pediatr 2016 10;2016:8013530. Epub 2016 Nov 10.
    Department of Pediatric Cardiology, Fukuoka Children's Hospital, Fukuoka, Japan.
    Both CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion syndrome, while conotruncal defects and atrioventricular septal defects are overrepresented in patients with CHARGE syndrome. Read More

    Otologic and Audiologic Outcomes in Pediatric Patients With Velo-Cardio-Facial (22q11 Deletion) Syndrome.
    Otol Neurotol 2017 Jan;38(1):73-78
    Department of Otolaryngology-Head and Neck Surgery, Medical University of South Carolina, Charleston, South Carolina.
    Objective: The focus of this study was to evaluate the prevalence, type, and severity of hearing impairment in patients with velo-cardio-facial syndrome (VCFS) and to compare these characteristics with patient demographics and other otologic factors.

    Study Design: Retrospective analysis of the AudGen Database.

    Setting: Tertiary academic referral center. Read More

    Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.
    J Clin Immunol 2017 Jan 21;37(1):51-60. Epub 2016 Nov 21.
    Department of Clinical Immunology, Karolinska University Hospital Huddinge, SE-14186, Stockholm, Sweden.
    Newborn screening for severe primary immunodeficiencies (PID), characterized by T and/or B cell lymphopenia, was carried out in a pilot program in the Stockholm County, Sweden, over a 2-year period, encompassing 58,834 children. T cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) were measured simultaneously using a quantitative PCR-based method on DNA extracted from dried blood spots (DBS), with beta-actin serving as a quality control for DNA quantity. Diagnostic cutoff levels enabling identification of newborns with milder and reversible T and/or B cell lymphopenia were also evaluated. Read More

    Cardiac rehabilitation in an adolescent with DiGeorge Syndrome.
    Eur J Phys Rehabil Med 2017 Jun 18;53(3):462-465. Epub 2016 Nov 18.
    Department of Physical and Rehabilitation Medicine, Research Institute of Medical Sciences, Regional Cardiocerebrovascular Center, Center for Aging and Geriatrics, Chonnam National University Medical School and Hospital, Gwangju, South Korea.
    Background: DiGeorge Syndrome is a rare disease that has variable clinical symptoms resulting from 22q11 deletions, included cardiac abnormality, abnormal face and thymic aplasia, and cognitive impairment. There was a no reports regarding the efficiency of cardiac rehabilitation (CR) in patients with DiGeorge Syndrome with tetralogy of Fallot.

    Case Report: A 15-year-old girl with DGS visited our CR center. Read More

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