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DiGeorge Syndrome is a disease or a condition that is caused by a defect happen in chromosome 22.
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FISH for 22q11 deletion was ordered The results were negative in 2 occasions ... Abdominal X-ray showed pneumatosis ampi-cillin, amikacin, metronidazole ...
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Wiskott Aldrich Syndrome. X linked disorder. Affects platelet numbers/function ... DiGeorge Syndrome. Poorly developed or functioning thymus ...
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green = probe for end of chromosome 4. DiGeorge syndrome/CATCH22 ... green = control ... characteristic, ie. thumb shape or lack of a particular ...
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Sinus: A blind ending pit extending from an internal or external surface. ... Eye and ear defects. DiGeorge Syndrome. Absence of the thymus. Malformations of ...
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HIRA. ZNF74. Example: DiGeorge, Shprintzen, Velocardiofacial Syndromes. OMIM ... HIRA X7529 6. ZNF74 X71623. Step 2: Deduce locations of single copy intervals ...
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Title: T Cell Development Author: UVM Affilaite Last modified by: Lisa-Marie McKenzie Created Date: 3/8/2005 6:35:04 PM Document presentation format
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This is an example of trisomy 21 (47, XY, 21) also known as Down syndrome. ... Of those born with Down syndrome, 1/6 die within the first year and the average ...
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... culture was negative for RSV and other respiratory viruses. ... BAL sample was positive for RSV, Moraxella, and S. pneumoniae, treated with antibiotics. ...
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Title: GENERAL FETURES OF IMMUNODEFICIENCY. Author: Ahmed Last modified by: Dr.Zahid Created Date: 9/11/2004 4:05:20 PM Document presentation format
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Imunodeficiency states Primary Caused by defined genetic defects Usually rare, but severe (exception: IgA deficiency) Secondary Consequence of some other disease ...
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Immunopathology Dr. Amitabha Basu MD OUR TOPIC TRANSPLANT REJECTION Graft Vs Host disease AUTOIMMUNE DISEASES TRANSPLANT REJECTION and MHC matching Type of Grafts ...
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Title: GENERAL FETURES OF IMMUNODEFICIENCY. Author: Ahmed Last modified by: MK Created Date: 9/11/2004 4:05:20 PM Document presentation format:
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calcium homeostasis & parathyroid disorders dr. mahmudul huque holy family red crescent medical college
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PRIMARY IMMUNODEFICIENCY DR MOHAN MODERATOR DR PUSHPALATA The immune system, which protects the body from disease, works through a complicated web of cells and ...
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Immunodeficiency diseases. Prof. Mohamed Osman GadElRab. College of Medicine & KKUH.
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??????????????? (Electrophoresis) ???????????????????????????????????? ????????? ... Sodium Dodecyldulfate (SDS) ???? Anionic surfactant ?????????????????????? 1 SDS : ...
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Applications of Molecular Cytogenetics Dr Mohammed Alqahtani CSLT(CG), CLSp(CG), RT,MBA, Ph.D Genomic Medicine Unit Founder & Director Center of Excellence in Genomic ...
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Down's syndrome may be 108 kcal/kg. Correction for Gestational Age ... Di George Syndrome. Down Syndrome. Trisomy 21. Sucking problems due to hypotonicity ...
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Paediatrics teaching ppt Immunodeficiency diseases Xinhua Hospital Shanghai Institute for Pediatric Research Tong-Xin Chen Immunodeficiency diseases ID A group of ...
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Chromosome Abnormalities ANEUPLOIDY Karyotype Charts 1 single Y chromosome is a sufficient to produce maleness while its absence is necessary for femaleness
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Title: TK IL-2 RAR Author: hkgh Last modified by: Created Date: 3/27/2002 7:02:31 AM Document presentation format
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Systemic lupus erythematosis. Scleroderma. Immunodeficiency (congenital & acquired) ... Clinical Features of Systemic Lupus Erythematosus ...
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Cyanotic congenital heart disease ... Central Peripheral Response to cool temperatures part of normal transition may last 72hr May also represent poor cardiac ...
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5 wk old IVF twin born at 34 1/2 wks gestation weighing 2 ... complex vascular remodeling during embryogenesis results in malformations and vascular rings ...
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Title: Distrofie muscolari dei cingoli Author. Last modified by: Prof. Nigro Created Date: 11/24/1998 8:55:57 PM Document presentation format: Presentazione su schermo
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Title: Kuby Immunology 6/e Author: Kindt, Goldsby, Osborne Last modified by: sb Created Date: 12/24/2002 1:08:46 AM Document presentation format: On-screen Show (4:3)
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Title: TK IL-2 RAR Author: hkgh Last modified by: Your User Name Created Date: 3/27/2002 7:02:31 AM Document presentation ...
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Title: Author: Wang Hui Last modified by: Created Date: 10/6/2000 8:09:19 AM Document presentation format
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Cells responsible for cell-mediated immunity and their mechanisms of action
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Compensation g n tique dans un d sordre g nomique humain Elisabeth FLORI, Evelyne SCHMITT * We used a QMPSF assay to determine the copy number of several genes ...
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ROLE OF FETAL ECHOCARDIOGRAPHY IN CONGENITAL HEART DISEASES ... (tracheal and esophageal malformations associated with vertebral, anorectal, cardiac, renal, ...
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... and 20% with extracardiac malformations ... new risk is 1 in 20 to 1 in 100 Previous two children with ... anorectal, cardiac, renal, radial, and ...
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Immunodeficiencies Martin Li ka Basic immunological terms Immune system provides 3 basic functions: Defense against infection Homeostasis elimination of old or ...
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Allergy & Immunology for the Boards: Primary Immunodeficiency Regina D. Wells, MD Allergy & Immunology Fellow Baylor College of Medicine Department of Pediatrics
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karyotype picture of the chromosomes in a cell used to check for abnormalities Prenatal diagnosis: Trisomy 21 (Down s syndrome) Turner Syndrome Turner Syndrom ...
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COMMON CONGENITAL SYNDROMES Unit 1 Module 3 Prepared by: C. Sargo RN (EC) Reviewed by: Maj. Quinn RN (EC) THE DYSMORPHIC CHILD 3/100 infants are born with a ...
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Attributed to over-expression of FMR1 mRNA (5 fold to 8 fold) rather than to the ... mother - son- grandchild. Uniparental Disomy in PWS ...
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Pr natal bedingte Krankheiten. Klinische Genetik Dr. Gy rgy Fekete Klassifizierung Monolocus Krankheiten= Ein Gen, Mutation (en) 10.000 Erkrankungen AD, AR ...
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Immunodeficiency disease Part 1 Introduction Part 2 Primary immunodeficiency diseases Part 3 Secondary immunodeficiency diseases HIV and AIDS an infectious ...
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Immunodeficiencies Leonard H Sigal MD, FACP, FACR P.R.I.- CD& E- Immunology Bristol-Myers Squibb Princeton, NJ Clinical Professor of Medicine and Pediatrics
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Autoimmunity. Immunopathology. dr. Kayserov 26.11. Immunopathological reactions, allergy dr. Kayserov 3.12. Immunotherapy dr. Podrazil 10.12.
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Title: PowerPoint Author: a Last modified by: nivz Created Date: 1/23/2003 9:07:41 PM Document presentation format: On-screen Show Company
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... waarvan 1 bruikbaar Malignancy in chromosome 22q11.2 deletion syndrome, McDonald-McGinn et al., American Journal of Medical Genetics, 2006: volume 140; ...
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Title: Antibody production Author: Your User Name Last modified by: acadpm01 Created Date: 11/7/2006 6:45:15 AM Document presentation format: On-screen Show (4:3)
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Cromosomopatie Vincenzo Nigro Laboratorio di genetica - Dipartimento di Patologia Generale, Seconda Universit degli Studi di Napoli Telethon Institute of Genetics ...
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IMMUNOPHARMACOLOGY Ma. Janetth B. Serrano, M.D., DPBA IMMUNOPHARMACOLOGY 2 major components of the immune system: INNATE Physical skin, mucus membrane Biochemical ...
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Today: Applications of DNA: FISH, DNA 'chips', Forensics. Next time: Fundamental studies: ... killed in war/car accident and can only recognize you from your ...
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Title: Bio211 Lecture 1 Subject: Chapter 1 Author: Greg Erianne Last modified by: Gregs Desktop Created Date: 1/6/1999 1:55:24 PM Document presentation format
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INMUNODEFICIENCIAS 'Susceptibilidad a las infecciones' Infecciones cr nicas ... (Erupciones, diarrea cr nica, abscesos, retardo del crecimiento,etc. ...
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Hypoplastic Left Heart Syndrome Hypoplastic Left Heart Syndrome Aortic Stenosis Acyanotic With Increased ... interrupted aortic arch Hypoplastic left heart ...
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Chapter 21 Congenital or Primary Immunodeficiency (PID)
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Semeiotica genetica Vincenzo Nigro Dipartimento di Patologia Generale Seconda Universit degli Studi di Napoli Telethon Institute of Genetics and Medicine (TIGEM)
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Aortic Arch Anomalies ... arises exclusively from PA via ductus arteriosus without connection to aorta 3 different forms CHD + in 50% of cases 2/3 ... aneurysm of ...
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