'Recurrence risk' diaporamas de présentation

Diagnosis & Treatment of Pediatric Epilepsy

Diagnosis & Treatment of Pediatric Epilepsy. Joseph E. Sullivan, M.D. Assistant Professor of Clinical Neurology & Pediatrics Director, UCSF Pediatric Epilepsy Center. Outline. Proper seizure/epilepsy classification Why treat? When to treat? Treatment options Outcomes.

951 views • 92 slides

INHERITED THROMBOPHILIA

INHERITED THROMBOPHILIA. Anticoagulant Profibrinolytic. Procoagulant Antifibrinolytic. Anticoagulant Profibrinolytic. Procoagulant Antifibrinolytic. There Are Five Proven Independent Genetic Risk Factors for VTE. 4 are defects in physiologic anticoagulant pathways.

833 views • 60 slides

MULTIFACTORIAL DISEASES

MULTIFACTORIAL DISEASES. MG L-10 July 7 th 2014. Spectrum of Alterations in DNA Sequence. Contribution of Genes or Environment. Genes rarely act completely alone Environmental factors and other genes may modify expression Traits can be described as

705 views • 53 slides

Autosomal Dominant and Recessive Inheritance

Autosomal Dominant and Recessive Inheritance. Charles J. Macri MD Division of Reproductive and Medical Genetics Department of OBGYN National Naval Medical Center. Introduction. diseases result from mutation of a single gene 1994 - MIM-McKusick - 6678 monogenic traits 6178 - autosomes

696 views • 50 slides

Complex Genetic Traits

Complex Genetic Traits. Kate Garber Director of Education Emory University Dept. of Human Genetics kgarber@genetics.emory.edu. Objectives. Understand the concept of threshold liability and the complex interplay of genes and environment in determining many heritable traits

806 views • 42 slides

Genetic Aspects of Autism

Genetic Aspects of Autism. Janice Palumbos, MS, CGC Genetic Counselor University of Utah. Autism. Autism is a complex, behaviorally defined, static disorder of the brain Autism is not a disease but a syndrome with multiple nongenetic and genetic causes. Autism. Hetereogenous etiology

1.15k views • 38 slides

Good Morning! ?

Good Morning! ?. Morning Report: Tuesday, March 13th. Health Supervision of Children with Down Syndrome . Introduction. Due to the presence of extra genetic material from chromosome 21, children with Down Syndrome have: Multiple malformations Medical conditions Cognitive impairment.

599 views • 36 slides

A 39 yo Man with Atypical Chest Pain General Internal Medicine Primary Care Conference

A 39 yo Man with Atypical Chest Pain General Internal Medicine Primary Care Conference K. Mae Hla, M.D. October 11, 2006. The Case. 39 y.o. healthy epidemiologist with no personal or family history of cardiac or pulmonary disease

630 views • 36 slides

Ductal Carcinoma in situ

Ductal Carcinoma in situ. David M. Euhus, MD, FACS Professor of Surgery Director, Clinical Cancer Genetics UT Southwestern Medical Center at Dallas. Ductal and Lobular Anatomy of the Breast. Estrogen Receptor Positive Luminal Cell. Estrogen Receptor Negative Luminal Cell.

507 views • 26 slides

Ductal Carcinoma in situ

Ductal Carcinoma in situ. David M. Euhus, MD, FACS Professor of Surgery Director, Clinical Cancer Genetics UT Southwestern Medical Center at Dallas. Ductal and Lobular Anatomy of the Breast. Estrogen Receptor Positive Luminal Cell. Estrogen Receptor Negative Luminal Cell.

374 views • 26 slides

Process of Genetic Epidemiology

Process of Genetic Epidemiology. Defining the Phenotype. Migrant Studies. Familial Aggregation. Segregation. Linkage Analysis. Association Studies. Cloning. Fine Mapping. Characterization. Familial Aggregation. Does the phenotype tend to run in families?.

504 views • 21 slides

Management of Stillbirth

605 views • 19 slides

M-CHAT: Does your child...

Like to be swung? Take interest in other children ? Like climbing? Enjoy peek-a-boo? Ever pretend to talk on the phone? Ever use index finger to point to ask? To indicate interest? Play properly with small toys? Bring objects to show? Look you in the eye? Seem oversensitive to noise?.

534 views • 18 slides

GENOMIC IMPRINTING

GENOMIC IMPRINTING. What is an imprinted gene? Using Prader-Willi and Angelman syndrome as an example describe the imprinting control centre and explain how the imprint is maintained or erased within the germ line. What are the clinical and diagnostic implications of errors in this process?.

2.13k views • 13 slides

Epilepsy Key slides

Epilepsy Key slides. Saint Valentine- Patron Saint of Epilepsy, martyred for the sake of love. What is epilepsy? CKS PRODIGY Guidance. February 2006; NICE CG 20, October 2004. Epilepsy Characterised by recurrent, unprovoked seizures

558 views • 12 slides

Pedigree Analysis

1.09k views • 7 slides