Genetic Disease Tuberous Sclerosis PowerPoint PPT Presentations

Tuberous Sclerosis a multisystem genetic condition

It is a rare, multi-system genetic disease that causes tumors to grow in the ... Shagreen spots on the skin (most commonly on the back) ...

Tuberous Sclerosis TSC2/ Tuberin Alison Chappell Objectives Characteristics of Disease TSC 2 gene Hypothetical biochemical function of TSC 2/ Tuberin Mutations and ...

Tuberous Sclerosis Sigal Peter-Wohl, MD MetroHealth Medical Center Case Presentation 33 6/7 weeks gestation baby boy. 34yo G1P1, blood type A+ Prenatal screen negative.

Tuberous sclerosis is also known as tuberous sclerosis complex or TSC. It is a complicated multi-system genetic disease which is very rarely observed but can cause very serious problems. As it is a genetic disease, it has the ability to cause benign tumours to grow in the brain and other vital organs like heart, lungs, kidneys, eyes, and on the skin.

Tuberous sclerosis is also known as tuberous sclerosis complex or TSC. It is a complicated multi-system genetic disease which is very rarely observed but can cause very serious problems.

Tuberous sclerosis is also known as tuberous sclerosis complex or TSC. It is a complicated multi-system genetic disease which is very rarely observed but can cause very serious problems.

Emerging Treatment Strategies for Tuberous Sclerosis Complex David Neal Franz, MD Director, Tuberous Sclerosis Clinic Cincinnati Children s Hospital Medical Center

Tuberous Sclerosis and Behavior Neuroscience Case Conference August 11, 2006 The Case of JJ ID: 20 year old Caucasian female, single, lives with her mother, High ...

... fetal alcohol syndrome, Prader Willi syndrome, fragile X syndrome, and tuberous ... alcohol syndrome, Prader Willi syndrome, fragile X syndrome, and ...

... Shagreen Patch Cortical tubers Subependymal Nodules Subependymal Giant Cell Astrocytoma Cardiac Rhabdomyoma single or multiple ... and Tuberous Sclerosis ...

University of Texas Health Science Center at Houston, Medical School ... Roach ES, S. S. (2004). ' Diagnosis of tuberous sclerosis complex. ...

To demonstrate genetic heterogeneity. To predict risk of disease when specific ... A family wit h Tuberous sclerosis thought to have non-penetrance. 8/12/03 ...

GENETIC DISORDERS Neurofibromatosis (commonly abbreviated NF) is a genetically-inherited disease in which the nerve tissue grows tumors (i.e., neurofibromas) that ...

Also called somatic mutations ... Tuberous Sclerosis. Retinoblastoma. Familial Breast and Breast /Ovarian Cancer. Inherited Cancers ...

Contents: Von Hippel-Landau disease Alport s syndrome (hereditary nephritis) Fabry s disease Sturge Weber disease Tuberous sclerosis AD-PCKD Too much ...

Lecture 21 Cancer Genetics I Stephen B. Gruber, MD, PhD November 18, 2002 Cancer is, in essence, a genetic disease. Although cancer is complex, and environmental ...

Genetics and inheritance

01 introduction to medical Genetics Arrangement Introduction What is Medical Genetics? Genetic disease Arrangement Teacher: Liu Wen PhD ...

Title: Pathology of Prostate Carcinoma Author: info sys - mc Last modified by: BDUNNE Created Date: 1/29/2004 3:56:19 PM Document presentation format

MUTATIONS in NON-coding sequences defective transcription ... OSTEOGENESIS IMPERFECTA. ACHONDROPLASIA. FAMILIAL HYPERCHOLESTEROLEMIA ...

Skin and systemic diseases Pyoderma gangrenosum An inflamed nodule or pustule breaks down centrally to form an expanding ulcer with a polycyclic or serpiginous ...

Renal Cystic Disease

Craig A. Erickson, MD Director, Fragile X Research and Treatment Center Director, Developmental Disabilities Research and Treatment in Psychiatry

Genetics is a risk factor for cervical cancer ... Haemophilia B. Wilson's Disease. Sturge-Weber. Phenylkenonuria. Aims. What's it all about? ...

... to occur in mice, rats, hamsters, rabbits, macaques, marmosets, baboons and ... No-X males Y0. Autosomal trisomies. Down's (21) Edward's (18) Pateau's (13) ...

What is Medical Genetics? human ... chromosome analysis ... Teacher Week Date Day Course Lab training 46,XY karyotype 46,XY karyotype retained testis 47,XXY ...

A CLINICAL OVERVIEW AND GENERAL APPROACH Tasaduk Khan. MD.FRCP(UK).FCCP(USA). Senior Consultant pulmonologist. Security forces hospital, Riyadh. ...

'But in communicating to the world this great discovery I am sorry that I must ... they will not leave them untried and uninitiated and therefore, useless. ...

MYOCARDIAL AND PERICARDIAL DISEASE, CARDIAC TUMORS Anjali Shinde, MD Mount Sinai Hospital Chicago AMYLOID Morphology: Heart varies in consistency from normal to firm ...

Tuberous sclerosis ( 5%) Autosomal dominant. 2 loci have been identified. chromosome 9 (TSC1) ... Tuberous sclerosis. ESRD on HD for 3-5 yrs. Strong Fam Hx ...

Asperger syndrome (AS), also known as Asperger's, is a developmental disorder characterized by significant difficulties in social interaction and non verbal communication, along with restricted and repetitive patterns of behavior and interests.

Genetics, Epilepsy and Behavioral Manifestations in Children with Lissencephaly and Subcortical Band

... competencies will be critical for the optimal application of genetics to health. ... Mayo Clinic Eisenberg Genomics Education Program ...

When does a family history suggest a hereditary cancer predisposition? ... (PSA) blood test and digital rectal examination should be offered annually, beginning ...

... Tuberous sclerosis Multisystem AD Variable penetrance of clinical findings Neurologic symptoms: Epilepsy 20-30% infantile spasms, MR, ...

Manifested during the developmental period. AAMR's new definition based on needed supports ... Tuberous sclerosis Tumors in nervous system ...

Learn why Mental Health Professions & Pediatricians need to be ' ... Tuberous Sclerosis / Fragile X. Autistic Disorders Screening Kit. The BHHS Legacy Foundation ...

Pediatric Neurogenetics Zheng (Jane) Fan, MD Medical Genetics Fellow UNC-CH 04/2006 What is Neurogenetics? Neurogenetics: the study of genetic factors that contribute ...

It can occur in both children and adults. If you have any of these genetic problems, see Dr.Karan, the top renal best kidney specialist in Raipur who is well-equipped in treating kidney-related disorders. Family or personal history may raise your chance of acquiring kidney stones.

Affects EYE , Skeleton and ... PowerPoint Presentation Pitfalls in Recognizing AD Inheritance Pitfalls in Recognizing AD Inheritance AD Disorders GENETIC TRAITS IN ...

Congenital and perinatal disorders of brain Genetic disorders During pregnancy Encefalofacial angiomatosis (Sturge-Weber) Cutaneous haematoma in face Seizures Mental ...

... Fucosilation failure Peroxisomal Disorders Infantile Refusm Disease Neonatal Adrenoleukodystorphy Zellweger/Zellweger like Recommendations for work-up Hx of ...

Genodermatoses and Acquired Syndromes, Part I KCOM/Texas Dermatology Consortium NE Regional Medical Center Incontinentia Pigmenti Aka Block-Sulzberger s disease X ...

CDBI Seminar on predictivity, genetic tests and insurance. Strasbourg, 3 ... Electrocardiogram - e.g. hereditary disturbance of conductivity (long QT-syndrome) ...

* * * * * * * * * * * * * * * An accurate gene test can tell if a mutation is present, but that finding does not guarantee that disease will develop. For example ...

International Classification of Diseases for Oncology 3rd Edition (ICD-O-3) and ... Free-standing oncology centers. Data exchange with other central registries ...

Cardiovascular pathology Dr D S O Briain October 2005 Systemic pathology: 6 lectures Topic: 2-5 min discussion, then summary panel Segments: ischaemic heart disease ...

Human Genome Structure and Organization Bert Gold, Ph.D., F.A.C.M.G. Genetic Variation Phenotype Expression of the genotype (modified by the environment).

Atherosclerotic heart disease remains the leading cause of death and disability ... of rest in the seated position with the cubital fossa supported at heart level. ...

Title: PowerPoint Presentation Last modified by: Evan Fertig Created Date: 1/1/1601 12:00:00 AM Document presentation format: On-screen Show (4:3) Other titles

Idiopathic Pulmonary Fibrosis

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Title: Vroden a perinat lne z skan ochorenia mozgu Author: GDOVINOV Last modified by: Spravca Created Date: 5/2/2004 11:41:52 PM Document presentation format

An ash leaf spot on the scalp will result in poliosis, which is a circumscribed patch of gray-white hair. SUBUNGUAL FIBROMA. SUBUNGUAL FIBROMA.

Director September 15, 2006 Ultrasonic Characteristics & Differential Diagnosis on Leiomyoma, Adenomyosis and Adenomyoma ...