Showing posts with label Genetics. Show all posts
Showing posts with label Genetics. Show all posts

05 July 2015

Noonan syndrome ppts and 500 published articles



What is Noonan syndrome?
Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms

Noonan syndrome
http://www.uams.edu

What syndrome is PS associated with?
Katrice L. Herndon, M.D.
http://www.med.wayne.edu

Physical Examination
http://www.ohsu.edu

Noonan Syndrome – genetic disorder
http://www.am.dodea.edu/

Medical Genetics
Harry Ostrer, M.D.
http://education.med.nyu.edu

KRAS mutations in Noonan syndrome
Mira Han, Pedro Alves
http://www.informatics.indiana.edu

Noonan’s syndrome and other forms of congenital heart disease
Robert J. Levy, M.D.
http://stokes.chop.edu

A Case of Hidden Infirmities
Brian Dockery, MD et al
https://www.uthsc.edu

Noonan's syndrome (male Turner's syndrome)
RICHARD E. FREEMAN MD MPH
http://portal.lhup.edu/

Keratosis Pilaris Atrophicans Faciei and Ulerythema Ophryogenes
Andrews Boris Ioffe, D.O.
http://www.atsu.edu/

Cardiomyopathy (Noonan syndrome)
Kristi Wiggins
https://vmw-lmsc.duhs.duke.edu

Activating mutations in Noonan’s Syndrome
http://people.virginia.edu/

Non Nutritive Suck in an Infant Diagnosed with Noonan Syndrome
http://wordpress.ed.pacificu.edu

500 Published articles on Noonan syndrome

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16 November 2014

Hypoplasia Ppts and Published articles



Hypoplasia is underdevelopment or incomplete development of a tissue or organ

Optic Nerve Hypoplasia  
Julie Greenlee
Angela Howe
http://www.faculty.sfasu.edu/

APLASTIC AND HYPOPLASTIC ANEMIAS
http://instructional1.calstatela.edu

Congenital Horizontal Gaze Palsy,
Progressive Scoliosis
http://novel.utah.edu/

Neonatal Diagnosis
https://www.ohsu.edu

Anesthesia for Congenital Heart Disease
Glynne D. Stanley MB.ChB. FRCA
https://www.bu.edu

Disturbances of Growth Neoplasia  
Gerald D. Abrams MD
http://open.umich.edu

Human Genetics of Urinary Tract Malformation 
Ali Gharavi, MD
http://www.columbia.edu/

Optic Nerve Hypoplasia  
Julie Greenlee, Angela Howe
http://www.faculty.sfasu.edu

Primary Adrenal Disease
Briana Patterson, M.D.
http://www.pediatrics.emory.edu

Pulmonary Hypertension in The Neonates
Simona Nichita
http://elpaso.ttuhsc.edu

Congenital Hearing Loss
Ashley Starkweather, MD
http://headandnecksurgery.ucla.edu

Congenital Adrenal Hyperplasia due to Abnormal Steroidogenesis
http://webmedia.unmc.edu

Congenital Malformation - Scope of the Problem
Charles J. Macri MD
http://www.gwumc.edu/

Down Syndrome
Emily Pollakowski, MD
https://www.umassmed.edu 

200 latest Published articles of Hypoplasia

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22 September 2012

Wolf-Hirschhorn syndrome



Wolf Hischhorn Chromosome Abnormality
Andrew Waters
https://sharepoint.cisat.jmu.edu

DNA strand, mRNA strand
http://www.unity.edu

Disease or Disorder
http://www.sanjuan.edu

Genetics
http://www.cabrillo.edu/

MEIOSIS
http://www.brazosport.edu

A Review of Genetics for the Pediatric Board Exam
Michael Wangler, M.D.
http://www.bcm.edu

Chromosomal Structure and Chromosomal Mutations
http://cls.umc.edu

Hematology/Oncology Grand Rounds
Michael Tomasson, MD
http://hematology.im.wustl.edu

Genetic Malformation Syndromes Chromosomal
Christine A. Weaver, M.D., Ph.D.
https://www.med.illinois.edu

Positional cloning of the Huntington’s disease (HD) gene
http://faculty.washington.edu

Basics of Genetic Assessment and Counseling
Charles J. Macri, MD
http://www.gwumc.edu/edu

Ingenious Gene Therapy
Damon Loya,Haddy Ruiz, Pantea Homayoonmehr, Eric Tu
http://courses.csusm.edu

Antidysrhythmic Agents
http://faculty.plattsburgh.edu

Collagen Disorders
http://www.med.umich.edu

Chromosome Disorders
https://sharepoint.cisat.jmu.edu

Genetic Syndromes
http://www.bcm.edu

198 Published articles on Wolf-Hirschhorn syndrome

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27 July 2012

Noonan syndrome



Noonan syndrome is a disease that can be passed down through families (inherited). It causes abnormal development in many parts of the body. Noonan syndrome used to be called Turner-like syndrome.

Unilateral Sensorineural Hearing Loss
Jacques Peltier, MD, Francis B. Quinn, Jr., MD
http://www.utmb.edu/

Genodermatosis
Boris Ioffe, D.O.
http://www.atsu.edu

Genodermatoses and Acquired Syndromes
http://www.atsu.edu

Signaling by Tyrosine Phosphorylation in the Nervous System
http://www.calstatela.edu

Congenital Heart Disease
Katrice L. Herndon, M.D.
http://www.med.wayne.edu

Protein Tyr Phosphatases
http://people.virginia.edu/

Medical Genetics
Harry Ostrer, M.D.
http://education.med.nyu.edu

Mendel and Heredity
http://www.am.dodea.edu

Cutaneous Vascular Diseases
http://www.atsu.edu/

Heart Disease in the Neonate & Fetus
J. Deane Waldman, MD MBA
http://hsc.unm.edu

Genetics and Dysmorphology
Ramanpreet Dhindsa
https://medapps.mercer.edu

Early Intervention: Supports and Services
https://mymission.lamission.edu/

Intellectual Disabilities Definition, Causes, and Characteristics
http://www.hhs.csus.edu

A Review of Genetics for the Pediatric Board Exam
Michael Wangler, M.D.
http://www.bcm.edu

Aortic Dissection
Riya Chacko, MD
http://portal.nebh.org

A Case of Hidden Infirmities
Brian Dockery, MD
http://www.uthsc.edu/

Examples of Chromosomal or Mendelian Disorders
http://www.uams.edu/

618 Published articles on Noonan syndrome

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15 July 2012

Dyskeratosis congenita



Dyskeratosis congenita (DC)
Philip J Mason
http://www.siteman.wustl.edu/

Dyskeratosis congenita
Clinical features
http://web.campbell.edu/

Dyskeratosis
Carol Greider
http://www.pitt.edu/

Genodermatosis
http://www.atsu.edu
http://www.atsu.edu/ 2

Neonatal Anemia
Lakshmi Venkateswaran MD
http://www.bcm.edu/

Telomere Replication
http://lfromm.iweb.bsu.edu

Dyskeratosis congenita (haplo-insufficiency)
http://www.bio.brandeis.edu

Causes of Aplastic Anemia
Smita Joshi, Dr. Stock
http://medchiefs.bsd.uchicago.edu

A Brief Introduction to Umbilical Cord Blood
Christina Bemrich
http://www.uab.edu


99 free access published articles

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29 June 2012

Aarskog syndrome



Aarskog syndrome or Aarskog–Scott syndrome

Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. Inherited means that it is passed down through families.

65 published articles are available on the subject

  1. Familial syndrome resembling Aarskog syndrome.
  2. Bilateral anterior hip dislocation in a child with Aarskog syndrome: a case report.
  3. Aarskog syndrome: a case report and literature review.
  4. Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene.
  5. Growth hormone treatment in Aarskog syndrome: analysis of the KIGS (Pharmacia International Growth Database) data.
  6. Orthodontic treatment of a case of Aarskog syndrome.
  7. Aarskog syndrome.
  8. Aarskog syndrome.
  9. Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.
  10. Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome).
  11. Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue.
  12. Prenatal sonographic diagnosis of Aarskog syndrome.
  13. Isolation, characterization, and mapping of the mouse and human Fgd2 genes, faciogenital dysplasia (FGD1; Aarskog syndrome) gene homologues.
  14. The effect of growth hormone treatment on stature in Aarskog syndrome.
  15. Brief report: autism and Aarskog syndrome.
  16. Dental and craniofacial features of Aarskog syndrome: report of a case and review of literature.
  17. Intelligence and development in Aarskog syndrome.
  18. Aarskog syndrome associated with hypermetropia and toe anomaly.
  19. Genomic organization of the faciogenital dysplasia (FGD1; Aarskog syndrome) gene.
  20. Velo-facio-skeletal syndrome versus Aarskog syndrome.
  21. An intragenic TaqI polymorphism in the faciogenital dysplasia (FGD1) locus, the gene responsible for Aarskog syndrome.
  22. Aarskog syndrome: severe neurological deficit with spastic hemiplegia resulting from perinatal cerebrovascular accidents in two non-related males.
  23. Aarskog syndrome. A case report.
  24. Congenital heart defects in Aarskog syndrome.
  25. Umbilical findings in Aarskog syndrome.
  26. Tortuosity of the retinal vessels in Aarskog syndrome (faciogenital dysplasia).
  27. Megadolichosigmoid in a young male with Aarskog syndrome.
  28. The facio-digito-genital syndrome (Aarskog syndrome): a further delineation of the distinct radiological findings.
  29. Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323.
  30. Aarskog syndrome: report of a family with review and discussion of nosology.
  31. Dolichomegasigmoid in Aarskog syndrome.
  32. Aarskog syndrome in association with mental and psychological retardation, grand mal epilepsy and tardive dyskinesia and apparent radicular paralysis of the fibular nerve in torsion scoliosis.
  33. The gene for Aarskog syndrome is located between DXS255 and DXS566 (Xp11.2-Xq13).
  34. Aarskog syndrome in a Brazilian boy born to consanguineous parents.
  35. Atypical case of Aarskog syndrome.
  36. Aarskog syndrome: the changing phenotype with age.
  37. Aarskog syndrome.
  38. Aarskog syndrome. A case report.
  39. Aarskog syndrome in Hungary.
  40. Aarskog syndrome in a Danish family: an illustration of the need for dysmorphology in paediatrics.
  41. Aarskog syndrome.
  42. Aarskog syndrome. Description of a case with significant anomalies of the gonads.
  43. Aarskog syndrome: full male and female expression associated with an X-autosome translocation.
  44. Anomalous cerebral venous drainage in Aarskog syndrome.
  45. Metatarsus adductus in two brothers with Aarskog syndrome.
  46. The Aarskog syndrome in a large family, suggestive for autosomal dominant inheritance.
  47. Aarskog syndrome.
  48. Autosomal dominant inheritance of the Aarskog syndrome.
  49. A case of Aarskog syndrome with a review of Japanese literature.
  50. Aarskog syndrome with isolated growth hormone deficiency.
  51. Aarskog syndrome (author's transl).
  52. The Aarskog syndrome.
  53. The Aarskog syndrome. Description of a case and review of the literature.
  54. The Aarskog syndrome.
  55. Dental findings in patients with Aarskog syndrome.
  56. Aarskog syndrome: significance for the surgeon.
  57. Aarskog syndrome. New findings and genetic analysis.
  58. The Aarskog syndrome.
  59. Addditional features of the Aarskog syndrome.
  60. Aarskog syndrome: new oral-facial findings.
  61. The Aarskog syndrome in three brothers.
  62. Inheritance of the Aarskog syndrome.
  63. Aarskog syndrome (author's transl).
  64. The facial-digital-genital (Aarskog) syndrome.
  65. The Aarskog syndrome.

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31 May 2012

Apoptosis



Apoptosis: An overview
Sanjeev Sharma*, Aarti Bhardwaj$, Shalini Jain# and Hariom Yadav
Apoptosis: An overview .ppt

MOLECULAR BIOLOGY OF APOPTOSIS
Apoptosis.ppt

Apoptosis & Cancer Biology
Apoptosis & Cancer Biology.ppt

Apoptosis “Cell Death”
By Brian Abadie, Emily Anderson, andJohn Ramsey
Apoptosis.ppt

Apoptosis – Programmed Cell Death
Apoptosis.ppt

Apoptosis
Apoptosis.ppt

Preliminary Study of Apoptotic Genetics in the Rat Cochlea
Syed Ahsan, MD, Thomas Van De Water, PhD, Thomas Balkany, MD
Preliminary Study of Apoptotic Genetics.ppt

Apoptosis, necrosis, and death
Apoptosis, necrosis, and death.ppt

Mechanisms of Bcl-2 in Programmed Cell Death
Laura Beth Hill
Apoptosis.ppt

Apoptosis
Apoptosis.ppt

Apoptosis Lecture
Apoptosis Lecture.ppt

Role of Intracellular Calcium In Glucocorticoid-Evoked  Lymphoid Cell Apoptosis
Devin Morris
SigmaDevin.ppt

Evolution of Apoptosis
By Sean A. McMillan
Apoptosis.ppt

Apoptosis genes
Apoptosis genes.ppt

An In Silico Assay for Apoptosis in Yeast
Lou Lieto, John Eberth
An In Silico Assay for Apoptosis in Yeast.ppt

Purposes Of Apoptosis
Apoptosis.ppt

Radiation-induced Apoptosis
WetLabApoptosis2007.ppt

Programmed Cell Death - A genetically controlled cell suicide pathway
Programmed Cell Death.ppt

Apoptosis
Eric Niederhoffer, SIU-SOM
Apoptosis.ppt

Apoptosis
Programmed Cell Death.ppt

Cell Differentiation: Cell interactions in Development
Patricia Zuk, PhD
Cell Differentiation.ppt

Apoptosis pathways and factors
Apoptosis.ppt

Mechanisms of Apoptosis/ Review
Sandra A. Gibson Hudson Ph.D.
Mechanisms of Apoptosis.ppt

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28 March 2012

Uniparental disomy Ppt and free 50 published articles



Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent.

Uniparental Disomy, Imprinting and Prader-Willi Syndrome
Bill Fergus, Jenn Butt
https://sharepoint.cisat.jmu.edu/isat/klevicca/Web/Bio430/Chromosome_Disorders/Bio430PWS.ppt

Non Mendelian Inheritance
Reem Saadeh, MD
http://www.hopkinsmedicine.org/sebin/o/x/NONMend.ppt

Chromosomal Disorders
http://www.med.umich.edu/lrc/coursepages/M1/humangenetics/Lectures6and7Cytogenics.ppt

Prader-Willi Syndrome
http://www.pwsausa.org/awareness/PWSPresentation.ppt

Genetics for the Internist - I
Charles J. Macri, MD
http://www.gwumc.edu/edu/obgyn/genetics/docs/gen1im.ppt

Modes of Inheritance
Jonathan Wolfe
http://www.ucl.ac.uk/~ucbhjow/medicine/RGD_lectures/lecture_34.ppt

Genetic Variability
http://nsm.uh.edu/~dgraur/molevol/fall2010/slides/27geneticvariability.ppt
Free 50 Published articles:

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29 February 2012

Prenatal Genetic Counseling and Evaluation Ppt




Prenatal Diagnosis Objectives
PrenDxNOTES02.ppt

Genetic Counseling
Jon  Weil
TAGC.ppt

Genetic Counseling  for Neurogenetic Conditions
Karen Kovak, M.S., C.G.C.
NOD042007.ppt


Genetic  counselors. What  do genetic counselors  do?
Kimberly  Guthrie, MS
FSU_Genetic_Counseling.ppt

Prenatal Genetics
Drs. Deborah Driscoll and Michael Mennuti
PBL.PrenatalDiagnosis.2009.ppt

Genetic  Aspects of Development  and Birth Defects
Cynthia  M. Powell, MD
Rotation-readings/genetic-readings/Birth_defects.ppt

Genetics: Past, Present, and Future
Robert M. Fineman, M.D., Ph.D.
http://www.pitt.edu/~super7/3011-4001/3231.ppt

Genetic Hearing Loss
Stephanie Cordes, MD, Norman Friedman, MD
Genetic-HL-0004.ppt

Genetic Counseling  in the Prenatal Setting
Prenatal Settting.ppt

Genetics  and Prenatal Development
Heredity and Environment.ppt

Recurrent  Pregnancy Loss
Deepthi  Foxhall
PregnancyLoss.ppt

Medical Genetics in 2006
Harry Ostrer, M.D.
Medgen/medgen.ppt

Fetal  Diagnosis & Counseling of Pregnancy Options 
Brian  L Shaffer, MD
Fetal-Diagnosis-Counseling-of-Pregnancy-Options-2-13-12.ppt

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28 February 2012

Fusion proteins Ppt



Fusion proteins or chimeric proteins are proteins created through the joining of two or more genes which originally coded for separate proteins. Translation of this fusion gene results in a single polypeptide with functional properties derived from each of the original proteins.

Fusion Proteins and Mechanisms  of Action
Fusion Proteins and Mechanisms.ppt

Coiled-Coil  Viral Fusion Proteins
Carla  A. Terry
Viral Fusion Proteins.ppt

E2A E2A Fusion proteins
Fusion proteins.ppt

Viral glycoproteins
Glycoproteins-presentation.ppt

Detecting Protein  Function and Protein-Protein Interactions from  Genome Sequences
by  E. Marcotte
Detecting Protein  Function.ppt

Transfection and Protein localization
Transfection and Protein localization.ppt

Production  of a Fusion Protein  Containing GnRH as a  Contraceptive Antigen 
by Tyler Noble,  Kerry Waite, Naguieb Saleem, Nammalwar Sriranganathan,  Henry Baker and Stephen Boyle
Production  of a Fusion Protein.ppt

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04 February 2012

Duchenne muscular dystrophy -DMD Ppts and Latest 50 Published artilces



Duchenne muscular dystrophy is an inherited disorder that involves rapidly worsening muscle weakness. Duchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy, which results in muscle degeneration, difficulty walking, breathing, and death.


Duchenne  Muscular Dystrophy
by Curtis Kendall
http://vgn.uvm.edu/outreach/data/Bio-UVM-fall-2006/Duchenne%20Muscular%20Dystrophy.ppt

Duchenne’s  Muscular Dystrophy: A Multidisciplinary Approach
By: Brittany  Annis
http://eportfolios.ithaca.edu/bannis1/docs/dmdinservice.ppt

Duchenne  Muscular Dystrophy
https://cstl-hhs.semo.edu/dhbeard/pe408/protected/MUSCULAR%20DYSTROPHY.ppt

Neuromuscular Disorders
by Dwayne McClerklin, MD
http://clinicaldepartments.musc.edu/anesthesia/intranet/education/interactive_learning/CA1/files/Neuromusculardisease.ppt

Duchenne  Muscular Dystrophy and Utrophin
by Iona Ross
http://www.ele.uri.edu/courses/bme281/F11/IonaR_2.ppt

Duchenne Muscular Dystrophy
by: Melissa  Martinez & Mando Aguero
http://www.laredo.edu/science/rviswanath/BIOL2401PPT/Duchenne%20MD.ppt

Finding Disease  Genes
http://www.bios.niu.edu/johns/humgen/Finding_Disease_Genes.ppt

Dystrophin and the Extracellular Matrix
by Eric Niederhoffer
http://www.siumed.edu/~eniederhoffer/som_pbl/SSB/powerpoint/dystrophin_ecm.ppt

Study Guide/Outline—RNA  Processing
http://science.kennesaw.edu/~echen1/Genetics/Quarter%204--Brooker/RNA-processing.ppt

Musculoskeletal Common MS disorders in Children
http://www2.sunysuffolk.edu/shaffec/Student%20PP%202011/Musculoskeletal%202012%20Student%20Version.ppt

Muscular System: Histology and Physiology
http://www.cerritos.edu/charbut/AP150/lec_otl/150%20Ch9-Muscle.ppt

Muscular Dystrophy
http://filer.case.edu/users/pxm73/Muscular%20Dystrophy.ppt

Latest 50 Published artilces

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27 September 2009

Prenatal Testing And Screening



Prenatal Testing And Screening
By:Adel D. Gilbert, MS, CGC
Genetic Medicine Education Coordinator
Institute of Genetic Medicine
Johns Hopkins University

Genetics Board Review Lecture
Lecture Outline
* Definitions
* Age related risks
* Etiology and phenotype of chromosome anomalies
* Risks, phenotype and testing options of ONTD
* 1st and 2nd Trimester Prenatal Testing Options
* 1st and 2nd Trimester MS Screening Options
* New approaches to combining these tools
* Ultrasound as a screening tool

Testing Defined
Screening Defined
* Identify those at increased risk who are not be perceived to be at risk
* Does not dx definitively
* Follow-up options available for definitive information
* Sensitivity=True positives/all affected
* Specificity=True negatives/all unaffected
Baseline Risk for Having a Child With a Serious Birth Defect
Phenotype
* Moderate mental retardation
* Characteristic facies
o upslanting palpebral fissures
o epicanthic folds,
o midface hypoplasia,
o macroglossia
* Congenital malformations
o heart (30-40%), atrioventricular canal
o gastrointestinal tract, such as duodenal stenosis or atresia, imperforate anus, and Hirschsprung disease
o Leukemia (both ALL and AML) 10-20x
o acute megakaryocytic leukemia occurs 200 to 400 times more frequently in the Down syndrome
o 90% have significant hearing loss, usually of the conductive type
Facial
* microcephaly with prominent occiput
* narrow bifrontal diameter
* short palpabral fissures
* low-set malformed ears
* cleft lip +/- palate
* narrow palatal arch
* micrognathia

Skeletal
* neck
* webbed
* chest
* short sternum
* widely spaced nipples
* hips:
* small pelvis, congenital dislocation of the hips, limited hip abduction
* extremities:
* phocomelia
* rockerbottom feet or equinovarus short dorsiflexed big toes fixed flexion deformity of the fingers (overlapping of the 2nd and 5th fingers over the 3rd and 4th fingers)simple arch pattern of the fingers and toes

hypoplasia of fingernails single crease of 5th finger or all fingers (absence of interphalangeal flexion creases)
Trisomy 18
Kleinfelter syndrome
Miscarriage
Turner syndrome
Neural Tube Defects
* Second most common major congenital defect (1-2/1000)
* Not a chromosome anomaly
* Routinely tested and screened for in pregnancy
* Failure neural tube to close at 28 days gestation
* 20% are closed lesions and difficult to detect prenatally

Open Neural Tube Defects
Closed lesions
Open lesions
INDICATIONS FOR PRENATAL DIAGNOSIS
PRENATAL DIAGNOSTIC PROCEDURES
* AMNIOCENTESIS
* CHORIONIC VILLUS SAMPLING
* PERCUTANEOUS UMBILICAL CORD SAMPLING

AMNIOCENTESIS
ULTRASOUND GUIDED
AMNIOCENTESIS
Amniocentesis Testing
* Chromosome analysis
* AF-AFP levels
* Acetylcholinesterase
* Risk of miscarriage associated with procedure 1/100-1/400
Advantages
* Highly reliable results 99+%
* Familiar
* Long standing reputation
* NTD detection
Disadvantages
* Late in gestation
o Decision making
o Privacy
o Mom feels movement
* Fear of needles
* Needle invades the sac

Fetus: 12 weeks gestation
Transcervical
Chorionic Villus Sampling
Transabdominal
Performed >10 wks-13 weeks
Chromosome analysis
Risk 1/100-1/200
* trophoblastic shell cells
* Syncitiotrophoblasts – poly-proliferate tissue type=directs
* cytotrophoblasts
* Mesodermal core=tissue culture
* frorm finger-like extensions

Disadvantages
* Placental mosaicism 1% of CVS is confirmed in the fetus ~ 10-40%
* Second trimester amniocentesis mosaicism ~ 0.1-0.3% & confirmed in a fetus up to 70% of the time.
* ?LRD risk prior to 70 days gestation (10 weeks)
* Higher loss rate
* Less access to procedure
* Higher chance of insufficient sample
* Early test=risk of sampling a fetus potentially destined to miscarry
* No ONTD testing
* More risk of vaginal bleeding
* Speculum

Benefits
* Earlier in gestation
* rapidly growing cell cultures practically free of maternal cell contamination
* an efficient direct method to obtain high quality metaphases from the of the syncitiotrophoblasts tissue which the fetal karyotype is defined within a few hours of chorionic villi sampling (specialty cyto techinque)
* is suitable for a rapid, direct diagnosis of the related metabolic diseases.
* placental mosaicism (trisomic rescue in fetus) can increase the risks of genetic abnormalities such as uniparental disomy

Fetal Blood Sampling
Percutaneous Umbilical Cord Sampling
(PUBS) or Cordocentesis
* ~2% risk of loss
* Technically difficult prior to 20 weeks
* Blood disorders such as hemophilia and anemia
o Useful for detection of Rh isoimmunization of the fetus (blood cell count and oxygen level)→erythroblastosis fetalis (HDN)
* Chromosomal abnormalities Fetal karyotype in 48 hours
* Infections such as toxoplasmosis and rubella.
* The procedure is also used to perform blood transfusions to the fetus and to administer medication directly into the fetal blood supply.

Reproductive Decision Making
RISK Fetal Aneuploidy
Procedure Related RISK
TO TEST OR NOT TO TEST
* I want to know
* The benefits outweigh the risks
* Options are desirable
* Because my doctor says so…..
* Not sure I want to know
* Risks are a big worry
* Options stink
* Because my doctor says so….

SECOND TRIMESTER
MATERNAL ANALYTES FOR ANEUPLOID
SCREENING
FETAL
Alpha-fetoprotein- AFP
Estriol- uE3
PLACENTAL
Estriol- uE3
Human chorionic gonadotrophin- hCG
Inhibin-A

2nd Trimester MSS Overview
Used for detection of:
+ ONTD
+ Down syndrome
+ trisomy 18
+ Smith-Lemli-Opitz syndrome
Serum Marker
Smith Lemli Opitz Syndrome
* Defect enzyme in the conversion of 7-dehydrocholesterol to cholesterol.
* Affects 1 in 20,000 to 40,000 births
* Autosomal Recessive
* Mental Retardation
* Slow growth
* Heart defects
* Facial cleft
* Screen positive women have uE3 < 0.4 MoM
* ~2% baby affected
* Testing AF for 7-8- dehydrocholesterol (7/8-DHC) levels

Turner T13 Triploidy Pregnancy complications
ONTD screening
Detection Rates
MSAFP
Add Ultrasound
Screening for DS
2nd Trimester 1/270 Cut-off
First Trimester Integrated Screening For Trisomies =FIRST
Nuchal Translucency (NT)
First Trimester Screening
Down syndrome DR ~1:270 Cut-off
Nasal bone
Recommendations 1st Trimester Nuchal >3.5
* CVS
* Targeted ultrasound evaluation 18-20
* Echocardiogram
* Residual 5-6% risk neonate may have a yet undefined genetic syndrome…
Fetal Nasal Bone
* 65% DS have absent nasal bone
* General population 1%
o African Americans 8%-10%
* Secondary screen
* Difficult to obtain
* Higher false positive in 1st

Integrated Screening
PAPP-A and Nuchal
Quad Screen
Screen Positive
Screen Negative
Timeline weeks
Decision Making
Advantages
* Increases detection rate
* Decreases false positive rate (fewer tests and fewer procedure related losses)
Disadvantages
* Long wait time for result
* Unable to utilize CVS and early detection
* Late GA by the time amnio results final
Contingent

First Trimester Screening
High risk
Low Risk
Intermediate
Triple Screening Integration
Offer CVS
High risk
Low Risk
US and Amnio
Stop
Advantages
* Increase detection rate 90%
* Decrease FPR 2%
* Reduce the number of amnios performed in low risk pregnancies
Disadvantages
* New (limited data)
* Hard to determine uptake
* Offered at few institutions
RISK OF ANEUPLOIDY BASED ON GA AND ANOMALY

3D Ultrasound
Fetal Face
24 weeks Gestation
Fetal MRI
FETOSCOPY
Amnion (stuck twin)
Umbilical cord

Prenatal Testing And Screening.ppt

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20 May 2009

ADHD and Mental Retardation



ADHD and Mental Retardation
By:Daniel M. Bagner, M.S.

Mental Retardation
* Sub average intelligence (IQ < 70: DSM-IV; <75: AAMR)
* Associated adaptive deficits in at least two areas:
o Communication, self-care, home living, social skills, community use, self-direction, health and safety, functional academics, leisure, and work
* Occurrence of deficits before age 18
Classification of MR
Pervasive Profound/custodial
Extensive
Severe/trainable
Intermittent
Educable
Mild
IQ range
Support required
Educational Classification
Level of MR
Etiology of MR
ADHD in MR
ADHD in Genetic Etiologies of MR

* Down Syndrome
* Fragile X syndrome

Underdiagnosis of ADHD in MR
* Symptoms less obvious than other disorders such as psychosis (Fisher, Burd, Kuna, & Berg, 1985)
* “Diagnostic overshadowing” (Reiss, Levitan, & Szyszko, 1982)

Developmental Appropriateness of ADHD in Children With MR
* DSM-IV suggests taking child’s mental age (MA) into account for assessing hyperactivity
* For rating scales
* Interdiagnoser reliability difficult when accounting for a child’s cognitive development

Developmental Appropriateness of ADHD in Children with MR
* If DSM-IV guidelines are correct
* Pearson and Aman (1994)
* Not necessary to adjust for IQ or MA but may be appropriate to control for CA
* Parents and teachers may make implicit corrections

Prevalence of ADHD in MR
Sustained Attention in MR
Selective Attention in MR
Attention in MR and ADHD in the Classroom
Similarities of ADHD: With or Without MR
“Breadth of Attention” in MR
Impulsivity in MR
Hyperactivity in MR
Hyperactivity in ADHD and MR in the Classroom
Aggression in MR and ADHD
Behavioral Adjustment in Children with MR and ADHD
Risk Factors in Children with ADHD and MR
Long-term Prognosis
Characteristic of and often observed in children with MR
Medication for ADHD in Children with MR
Behavioral Treatments for ADHD in Children with MR
Future Directions

ADHD and Mental Retardation.ppt

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Genetic Diseases



Genetic Diseases
Presentation by:Amrik Sahota
Dept Path & Lab Med
UMDNJ - RWJMS

What’s the Nature of This Talk?

* Review
* Preview
* Overview

Major Topics
* Mutations
* Single gene disorders
* Chromosomal disorders
* Multifactorial disorders
* Molecular diagnostics
* Pediatric disorders (not discussed)

DNA RFLPs
HLA antigens
Serum proteins
Blood groups
Structural changes
Chromosomes
Marker
Polymorphic Markers
Microsatellite markers
Single Nucleotide Polymorphisms
Causes of Mutation
* Spontaneous mutations
o Arise naturally during DNA replication
* Induced mutations
o Ionizing radiation (X-rays)
o Non-ionizing radiation (UV)
o Chemical mutagens

Types of Mutation
* Single gene mutations
o Minor structural alterations (single base changes, deletions, insertions, etc)
* Chromosomal mutations
o Major structural alterations (deletions, insertions, inversions, translocations, etc)
o Loss or gain of whole chromosomes (monosomies, trisomies, etc)

Single Gene Mutations
* Structural gene mutations
* Regulatory region mutations
* Dynamic mutations

Point Mutation (Sickle Cell)
Single Base Deletion (ABO)
Three-base Deletion (Cystic Fibrosis)
Premature Chain Termination (Beta Thalassemia)
Four-base Insertion in Hexosaminidase A Gene (Tay-Sachs)
Summary of Single Gene Mutations
Type Effect Example
Deletion Null Cystic fibrosis
Insertion Null Tay-Sachs
Inversion Null Hemophilia A
Missense Null Sickle cell
Nonsense Null Beta-globin
Frameshift Null Cystic fibrosis
Splicing Null Beta-globin
Regulatory Low exp. Beta-globin

Molecular Consequences of Single Gene Mutations
* Loss of function
* Haploinsufficiency
* Dominant negative mutation
* Gain of function

Loss of Function Mutations
Adenine Phosphoribosyltransferase (APRT) Deficiency
Adenine
DHA
Crystals in kidney
Stones in kidney
Renal injury
XDH
Precipitation/crystallization
Aggregation
Blockage of tubules
Tubular loss
Renal failure
AMP
APRT
T Insertion
Recognition Sequence by Tru9I
TCT Deletion
Recognition Sequence by Mbo II
E5-wild:
E5-mutant:
APRT Mutations
Haploinsufficiency
FH and LDL receptor
LDL Receptor Mutations
Dominant-negative Mutations
Dominant-negative Mutations: Collagen Genes
Gain of Function Mutation
Gain of Function Mutation: Oncogenes
Chromosomal Mutations
* Deletion: Loss of a piece of a chromosome
* Translocation: Breakage of two chromosomes and fusion of broken parts
* Isochromosome: Loss of one arm and duplication of the other
* Aneuploidy: Gain or loss of one or more intact chromosomes
* Mosaicism: More than one chromosomal complement in a given individual
Normal Male Karyotype
Types of Genetic Disorders

* Single gene disorders
* Chromosomal disorders
* Multifactorial disorders

Single Gene Disorders
* Thalassemia 1/50
* HNPCC 1/200 to 1/1000
* Sickle cell 1/400 to 1/600
* Cystic fibrosis 1/2,000 to 1/4,000
* Marfan syndrome 1/10,000 to 1/20,000

Inheritance Patterns For Single Gene Disorders

* Classic
* Non-classic
Autosomal Dominant Inheritance
Autosomal Recessive Inheritance
X-linked Inheritance
Mitochondrial Disorders
Mitochondrial Inheritance
Mitochondrial Inheritance (Leber Optic Neuropathy)
Other Disorders
Fragile X Syndrome
Fragile X Chromosome
Fragile X Pedigree
Nucleotide Repeat Mutations
Pathology of Single Gene Disorders
Sickle Cell Mutation
Normal and Sickle Cell Hemoglobin
Sickle cell
ORGAN/TISSUE INVOLVED
PROBLEMS CAUSED
KIDNEY
Hematuria
Urinary frequency
SPLEEN
Serious infections
Abdominal pain
LUNGS
Pneumonia
Chest problems
BONES
Infection Necrosis
BRAIN
Stroke
Headache
LIVER
Hepatomegaly
Jaundice
Complications of Sickle Cell Disease
NCBI
Chromosomal Disorders
Normal Male Karyotype
X Chromosome Idiogram
Finding Our Way Around
Sub-sub-band (q11.11)
Common Multifactorial Disorders
Frequency of Multifactorial Disorders
Multifactorial Versus Single Gene Disorders
Comparison of Single Gene and Multifactorial Diseases
Multifactorial Versus Polygenic Diseases
Interactions Between Genes and Environment
Molecular Diagnostics
Direct Gene Diagnosis (Factor V)
Allele Specific Oligo Probes
Fragile X Analysis
Summary

* Mutations
* Single gene disorders
* Chromosomal disorders
* Multifactorial disorders
* Molecular diagnostics

Genetic Disorders: Here and Now
Era of Genetic Medicine

Genetic Diseases.ppt

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Variations in Chromosome Number and Arrangement



Variations in Chromosome Number and Arrangement

* Chromosomal mutations or aberrations
o Abnormal chromosomal number
o Gene deletion or duplication
o Chromosome rearrangements
* Aberrant chromosomes passed on in a Mendelian fashion

Terminology
* Euploid – chromosomes present in complete haploid units
o Haploid
o Diploid
o Triploid
o Tetraploid
* Aneuploid – loss or gain of one or more chromosomes
* Alloploid – multiples of different genomes

Aneuploidy
* Commonly results from nondisjunction during meiosis
o Monosomy, trisomy, tetrasomy, etc.
o Klinefelter and Turner syndromes are examples involving human sex chromosomes

Nondisjunction
Monosomy
Cri-du-Chat Syndrome
* Autosomal monosomy in humans not reported beyond birth (die quickly)
* Partial autosomal monosomy may survive
* “Cry of cat” syndrome

Trisomy
* Trisomy (2n + 1)
* Meiotic issues

Trisomy Meiosis
Down Syndrome
* Discovered in 1866 by John Langdon Down
* Now known to result from trisomy 21 (47 +21)
* One per 800 live births
* 75% due to nondisjunction in meiosis I
* Ovum is source of extra 21 in 95% of cases

Down Syndrome – Trisomy 21
Maternal Age and Down Syndrome
Patau Syndrome
Edwards Syndrome
Viability in Human Aneuploidy
More From the Carr Study
Polyploidy in Plants
Autopolyploidy
Experimentally Produced Tetraploids
Yeast Models
Allopolyploidy
Allotetraploid Formation
Allotetraploids
Wheat/Rye Cross
Somatic Cell Hybridization
Protoplast Fusions
Endopolyploidy
Chromosome Rearrangements
Consequences of Rearrangements
Deletions
Compensation Loop in a Polytene Chromosome
Duplications
Unequal Crossing Over
Position Effects
Gene Duplication and Evolution
Chromosomal Inversions
Inversions and Gametogenesis
Inversions and Recombination
Translocations
Familial Down Syndrome
Fragile Sites
Fragile X Syndrome
Fragile X Chromosomes

Variations in Chromosome Number and Arrangement.ppt

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Reasons for Referral to Genetics



Reasons for Referral to Genetics

Prenatal or preconceptional patient who is or will be:
* Age 35 years or older at the time of delivery (for a singleton pregnancy)
* Age 33 years or older at the time of delivery (for a twin pregnancy)
* A close blood relative of her partner (consanguineous union)

Prenatal or preconceptional patient who has:
* An abnormal first or second trimester maternal serum nuchal translucency screening test
* Exposure to a teratogen or potentially teratogenic agent during gestation such as radiation, high-risk infections (cytomegalovirus, toxoplasmosis, rubella), drugs, medications, alcohol, etc.
* A fetal anomaly or multiple anomalies identified on ultrasound and/or through echocardiography
* A personal or family history of pregnancy complications known to be associated with genetic factors such as acute fatty liver of pregnancy

Either member of the couple with:
* A positive carrier screening test for a genetic condition such as cystic fibrosis, thalassemia, sickle cell anemia, Tay-Sachs, etc.
* A personal history of stillbirths, previous child with hydrops, recurrent pregnancy losses (more than two), or a child with sudden infant death syndrome (SIDS)
* A progressive neurologic condition known to be genetically determined such as a peripheral neuropathy, unexplained myopathy, progressive ataxia, early onset dementia, or a familial movement disorder
* A statin-induced myopathy

Either member of the couple with a family or personal history of:
* A birth defect such as a cleft lip palate, spina bifida, or a congenital heart defect
* A chromosomal abnormality such as a translocation, marker chromosome, or chromosomal mosaicism
* Significant hearing or vision loss thought to be genetically determined
* Mental retardation or autism

Genetic consultation may be helpful under the following circumstances for adult patients with a personal history of:
* Abnormal sexual maturation or delayed puberty
* Recurrent pregnancy losses (RPLs) (more than 2)

Cystic Fibrosis
Ashkenazi Jewish Screening
Fragile X Syndrome
Factor V Leiden

There is growing consensus that testing should be performed in at least the following circumstances (these are the same general recommendations for testing for any thrombophilia):
* Venous thrombosis in pregnant women or women taking oral contraceptives.

Testing may also be considered in the following situations:
* Relatives of individuals known to have factor V Leiden. Knowledge that they have factor V Leiden may influence management of pregnancy and may be a factor in decision-making regarding oral contraceptive use.
* Women with recurrent pregnancy loss or unexplained severe preeclampsia, placental abruption, intrauterine fetal growth retardation, or stillbirth. Knowledge of factor V Leiden carrier status may influence management of future pregnancies.

Reasons for Referral to Genetics.ppt

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Rates of Autism in Fragile X syndrome



Rates of Autism in Fragile X syndrome (FXS)

FXS OVERVIEW
* Fragile X syndrome (FXS), also called Martin-Bell syndrome, is the most common type of inherited intellectual disability
* An inherited condition that is passed down from parents to child, due to a single gene mutation. The abnormal gene is located in the X chromosome.
* About one out of 4,000 males and one out of 8,000 females are born with FXS each year in the United States.
* Mothers with the mutation have 50% chance of passing the gene to their children of both sexes, whereas fathers can only pass it to their daughters.
* Severity of the condition depends on the number of gene repetition.
* patients with FXS experience some combination of symptoms that affect their mental, physical, social, and sensory characteristics. Females with FXS often experience milder symptoms than males.

(http://www.wellness.com/reference/conditions/fragile-x-syndrome-fxs/symptoms-and-causes)

GUILTY GENE
* One in 250 females and 1 in 500 males carries the FMRl gene in a pre-mutation state.
* Located on the long arm of chromosome X, in the q 27.3 region.

CHARACTERISTICS OF FRAGILE X SYNDROME
* FXS has different effects on males and females. Males tend to be more affected than females.
* Intellectual disabilities. ranging from mild to severe. Low IQ score (40-75 for males). Female’s intellectual abilities is considered mild to moderate ,to a relatively normal mental development .
* Physical characteristics:
* elongated face or jaw
* larger ears,
* short stature
* Physical characteristics are usually normal for infants and young children.
* They become noticeable around the 11th year, and become clearly distinct during puberty.
* http://www.wellness.com/reference/conditions/fragile-x-syndrome-fxs/symptoms-and-causes

CHARACTERISTICS OF FRAGILE X SYNDROME
* Social and emotional disabilities:
* Anxiety which leads to avoidance behavior and health issues (heart palpitations, faintness, blushing, and profuse sweating)
* Attention deficit
* Anger issues
* Aggressive behaviors (males)
* Language development: Males and females have different language development
* Difficulty understanding social cues, body language, tone of voice, or facial expressions

CHARACTERISTICS OF AUTISM
* Autism is a behavioral diagnosis with no bio-marker.
* Impaired social interaction
* Impaired communication
* Restricted interests
* Repetitive behaviors

PREVALENCE OF FXS IN AUTISM
* FXS can cause a child to have to have Autism or ASD. However not all children with FXS have Autism
* Between 2% and 16% of all children diagnosed with autism.
* Approximately one-third of all children diagnosed with fragile X syndrome also have some degree of autism.
* Fragile X syndrome is the most common known single gene cause of autism (http://www.fragilex.org/html/autism_and_fragile_x_syndrome.htm)

DIFFERENCES BETWEEN FXS AND AUTISM
FXS differs from autism in that it can be defined in terms of a specific biomarker: an abnormally expanded sequence of CGG repetitions at the fragile X site at Xq27.3. There is, however, a wide range of individual differences in the length of this triplet expansion, the completeness of the resulting DNA methylation, the levels of transcription and translation into FMR1 mRNA and FMRP, and the modulator effects of polymorphisms in the many genes whose products FMRP regulates.

REFERENCES

* Thomas Johnson, Vanessa A. Checklist Assessments Of FMRl Gene Mutation Phenotypes. Journal of Diversity, Vol, 15, No, 3 Fall 2008
* Belmonte, Matthew K & Bourgeron, Thomas. Fragile X Syndrome and Autism at the Intersection of Genetic and Neural Networks. Nature Neuroscience, Vol 9, No 10, October 2006.
* Feinstein, Carl and Reiss Allan L. Autism: The Point of View from Fragile X Studies. Journal of Autism and Developmental Disorders, Vol. 28, No. 5, 1998
* Brodkin,Edward S. Social Behavior Phenotypes in Fragile X Syndrome, Autism, and the Fmr1
Knockout Mouse: Theoretical Comment on McNaughton et al. (2008). Behavioral Neuroscience /American Psychological Association, 2008, Vol. 122, No. 2, 483–489.
* fragilex.org
* http://www.wellness.com/reference/conditions/fragile-x-syndrome-fxs/symptoms-and-causes


Rates of Autism in Fragile X syndrome (FXS).ppt

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Fragile X Syndrome



Fragile X Syndrome
By: Mary Beth Oliver, Megan Lawrence, Kayla Sink

An inherited disorder caused by a defective gene on the X-chromosome and causing mental retardation, enlarged testes, and facial abnormalities in males and mild or no effects in heterozygous females.

Cause/Origin
* In a normal cell there are 23 pairs of chromosomes.
* The first 22 pairs are the same in both males and females.
* The 23rd pair is what makes a person a boy or girl
* X and Y make a person a male and two X chromosomes make a person a female
* On the X chromosome is a gene that is known as FMR-1, this is where the mutation occurs and causes Fragile X
* The FMR-1 gene is thought to play an important role in the development of the brain
Video:
http://www.youtube.com/watch?v=wGdH1M5lCVY


Prevalence
* affects both males and females from all races and backgrounds
* more men are affected and tend to have more severe traits than the women
* more than 80% of males with Fragile X have an IQ of 75 or below
* women often have less severe impairments than men

Characteristics
* most common characteristics are mental impairments and learning disabilities
* long face and large ears
* problems with sensation, emotion, and behavior
* developmental delay and mental retardation
* speech delay and excessive tiredness
* autism or autistic-like behavior
* delayed motor development

Educational Implications
Calming techniques
* beanbag chair
* watching a video
* music
* have a “safe place” where students can go to on request and calm down

Modified Environments
* sit student near teacher and away from distractions
* be aware of noises
* activity level
* lights and sensory overload for each individual child

Structured plans
* display clear schedule in classroom
* have clear expectations
* picture schedules help visualize transitions

Appropriate cues
* visual cues for sequence of events
* timers
* countdowns

Interactive lessons
* short tasks
* opportunities to move around

Plan a sensory diet
* engage the student in an activity known to be calming such as wearing weighted clothing
* jumping on a trampoline
* brushing

Instructional Implications
* Make note of the activities that cause your student to become over stimulated
* Teach students how to organize their steps for a task and how to ask questions
* Use step by step instructions
* Use the “fill in” or “closure” technique opposed to a direct question.
Ex. Instead of asking “What was your favorite part of the story?” ask “When the boy jumped off of the wall….”

Instructional Implications
* Focus on student’s personal interests as much as possible when teaching.
* Having students or parents fill out an interest inventory can help you find ways to engage students in learning more effectively.
* Allow use of word processing when appropriate.
* Use concrete objects and realistic contexts.
* Pause during verbal presentations to give more process time.
* Give alternative methods for responding

Other Professionals Involved
* The school's social worker or counselor can help students create plans and set goals for maturing their social skills.
* The occupational therapist, physical therapist and speech pathologist may work together to come up with a multi-dimensional plan for students with fragile X.
* Be an advocate for you student and make sure they are receiving the services that they are entitled too.

FYI
* Achievement tests tend to be better measures of students abilities because students with Fragile X tend to perform better than predicted by IQ tests.
* Students with fragile X often have a strong need for closure and perfection.
* Students with fragile X often experience a longer “rest” from learning or plateau, but do not take this as the student’s peak of intelligence. Students with fragile X need this rest time to take in their material and will continue to learn throughout their whole life.
* There is no cure for fragile X, but treatment and intervention strategies are available for the various symptoms of fragile X.


Resources

* http://www.youtube.com/watch?v=wGdH1M5lCVY
* http://www.medicinenet.com/fragile_x_syndrome/article.htm
* http://www.flickr.com/search/?q=fragile+x+syndrome
* http://www.emedicine.com/ped/topic800.htm
* http://geneticsmodules.duhs.duke.edu/Design/images/fragileX.jpg
* http://www.fragilex.org/html/home.shtml
* http://www.nichd.nih.gov/health/topics/fragile_x_syndrome.cfm
* Lesson Planning Guide for Students with Fragile X: http://www.fragilex.org/FXSBinderReprint0804.pdf


Fragile X Syndrome.ppt

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Fragile X syndrome



Fragile X syndrome

Defenition: A genetic disorder which can cause cognitive impairment and a number of other physical and behavioural characteristics. Some of these behaviours, such as poor eye contact, hand flapping, and poor social skills, also occur in children with autism. While most children with Fragile X Syndrome do not have all the characteristics of autism, about 15% to 33% are diagnosed as autistic. Individuals can be tested for "Fragile X" by having a blood test and having their chromosomes examined by a geneticist.

Presentation by: Michael Garrett Logan

What is Fragile X Syndrome?

* According to the National Fragile X foundation, “fragile X syndrome is the most common cause of mental impairment”
* Impairments range from learning disabilities to severe cognitive disabilities to intellectual disabilities.
* Fragile X is the most common known cause of autism and autism like behaviors.

http://www.fragilex.org

What causes Fragile X Syndrome
* Fragile X syndrome is a genetic disorder passed from parent to offspring through DNA.
* It is caused by mutation of the FMR1 gene (Fragile X mental retardation 1) on the X chromosome.
* This mutation is the result of a trinucleotide repeat disorder.
* A section of the FMR1 DNA usually repeats a sequence known as CGG (cytosine, guanine & guanine) 30-55 times. For someone with Fragile X syndrome, this section repeats itself 200-800 times.
* This causes the FMR1 gene not to produce the FMRP (Fragile X mental retardation protein).
* Mutation of this gene can vary between premature mutation and full mutation.

Other disorders associated with this gene mutation:
* fragile x associated tremor/ataxia
* fragile x associated POF (premature ovarian failure)

Demographics
Characteristics

* Fragile X Syndrome (FXS) affects people in a variety of ways. In some carriers these characteristics are hardly noticeable, while in others these characteristics are extremely evident.
* FXS can affect physical appearance, cognitive abilities, behavior, sensory capabilities; and speech and language.

Physical Characteristics
* Distinctive facial features.
* Connective tissue problems
* Macroorchidism (enlarging of the testicles)


Cognitive Development in Males
Cognitive Development in Girls
Behavioral Characteristics
Positive: sweet, loving, desire for social interaction
Behavioral difficulties: ADHD symptoms, hand flapping, chewing/biting (skin, clothes), sensory defensiveness, anxiety, coprolalia (repetitive bursts of swearing), autistic related behaviors, psychosis, schizophrenia, tics
Sensory Processing Problems
* Many behavioral problems are associated with sensory processing disorders common in FXS patients
* Sensitive to light, sound and touch.
* High difficulty maintaining eye contact

Speech and language difficulties
Impact on The Individual
Daily Impact
* Daily living skills are a challenge for FXS patients and their families.
* Sleep: infants struggle to go to sleep, bedding is irritating, children and adults awaken in the middle of the night and wander
* Eating: Breast feeding for infants is difficult, children over fill their mouths when eating, they have trouble chewing and are extremely picky about what they eat.
* Dressing: Parents or caregivers must pay attention to what fabrics FXS patients wear. They may need extra assistance at young ages due to low muscle tone.
* Hygiene: bathing, shaving and brushing teeth are difficult due to hyper stimulation.
* Toilet training: difficult due to developmental delays.

Diagnoses
Treatments
* There is no cure for FXS
* Treatments include: specialized education, speech & occupational therapy, sensory integration training, behavior modification and possible corrective heart surgery, ADHD medications and folic acid.
* Genetic Counseling

Educational Interventions

Fragile X syndrome.ppt

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02 May 2009

Male-Female Binary and Sex Determination



Male-Female Binary and Sex Determination

Gender/Sex/Sexuality Diversity
Usual Sex Chromosomes
XXXXY Chromosomes
More than one X = Barr Bodies
Only one X is functional in any one cell
The other(s) fold up and get out of the way at the edge of the nuclear membrane
These “extra” X’s can be seen in the microscope and counted

Do Chromosomes Matter?

* Yes, but …
* Does XX make a female?
* Does XY make a male?
* Is XO male or female?
* 1/1666 not XX or XY

Do Gonads Matter?

* Yes, but….
* Do ovaries make a female?
* Do testes make a male?
* What do ovo-testes make?

Do Hormones Matter?

* Yes, but …
* XY chromosomes
* Cells can’t “read” male hormone signals
* “Feminine” development
* “Male” or “Female”?

Conventional Sex/Gender Variables

Prefers females
Prefers males
Sexual orientation
Masculine
Feminine
Gender role
Gender identity
Assigned gender
Prostate, testes, penis, scrotum
Uterus, ovaries, clitoris vagina
Anatomy
testosterone
Estrogen/ progesterone
Hormones
Testes
Ovaries
Gonads
XY
XX
Chromosomes

MALE
FEMALE
VARIABLES
Chromosomes and Sex Determination
Gonadal Development [regulated by genes]
Embryology of internal reproductive organs
Sex Chromosomal Variation in Humans
Turner’s Syndrome: X0
Klinefelter’s Syndrome: XXY
Androgen Insensitivity or “Testicular feminization”
Baby Girl or Baby Boy?
Hormonal Virilization
Congenital Adrenal Hyperplasia
Sex determining Region of Y (SRY)
Suppression of Female Development
Some Questions….

* How can the mechanisms that lead to sexual differentiation vary?
* What might you predict might be some outcomes of such variations?
* How would you apply gender/sex based rules/laws in cases of non-standard chromosomes?

Male-Female Binary and Sex Determination.ppt

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