Lysosomal Storage Disorders: Introduction

Lysosomal Storage Disorders: Introduction

Lysosomal Anatomy and Physiology

Lysosomes

Lysosomal Storage Disorders

Epidemiology

Lysosomal Storage Disorders: Overview and Definition

Lysosomal Storage Disorders: Overview and Definition

Lysosomal Storage Disorders: Summary

Lysosomal Storage Disorders: Summary

Lysosomal Storage Disorders: Overview and Definition

Genetics

Lysosomal Anatomy and Physiology

Glycoprotein, N-Glycan, O-Glycan

Lysosomal Anatomy and Physiology

Cellular Trafficking

Lysosomal Anatomy and Physiology

Cellular Components and Function

Lysosomal Storage Disorders

Disease Burden

Lysosomal Storage Disorders

Classification

Lysosomal Storage Disorders

Clinical Presentation and Manifestations

Lysosomal Storage Disorders

Classification: Oligosaccharidoses, Cystinosis, and Niemann-Pick Type C Disease

Diagnosis and Treatment

Enzyme Replacement Therapy (ERT)

Diagnosis and Treatment

Substrate Reduction Therapy (SRT)

Diagnosis and Treatment

Disease-Modifying Therapy

Classification

Classification: Mucolipidoses and Sphingolipidoses

Diagnosis and Treatment

Diagnostic Components/Diagnostic Confirmation

Diagnosis and Treatment

Hematopoietic Stem Cell Transplantation

Diagnosis and Treatment

Diagnostic Components

Therapeutic Goals

Supportive Therapy

Epidemiology and Natural History

Clinical Presentation and Course of Disease

Hunter Syndrome: Introduction

Learning Objectives

Hunter Syndrome: Summary

Summary and Key Points

Hunter Syndrome: Summary

Learning Objectives

Gaucher Disease: Introduction

Learning Objectives

Summary

Summary & Key Points

Summary

Learning Objectives

Sanfilippo Syndrome: Introduction

Sanfilippo Syndrome: Introduction

Summary

Summary & Key Points

Summary

Learning Objectives

Metachromatic Leukodystrophy: Introduction

Learning Objectives

Summary

Summary and Key Points

Summary

Learning Objectives

Fabry Disease : Introduction

Learning Objectives

Fabry Disease : Overview

Common Clinical Manifestations

Summary

Summary and Key Points

Summary

Learning Objectives

Hunter Syndrome: Introduction & Overview

Overview of Clinical Features

Gaucher Disease: Overview

Gaucher Disease: Overview

Sanfilippo Syndrome: Introduction and Overview

Etiology

Fabry Disease : Overview

Etiology

Metachromatic Leukodystrophy: Introduction and Overview

Etiology

Sanfilippo Syndrome: Introduction and Overview

Sanfilippo Syndrome: Introduction & Overview

Metachromatic Leukodystrophy: Introduction and Overview

Classification

Metachromatic Leukodystrophy: Introduction

Metachromatic Leukodystrophy: Introduction and Overview

Gaucher Disease: Introduction

Gaucher Disease: Introduction

Genetics of Hunter Syndrome

Inheritance Pattern

Diagnosis of Gaucher Disease

Diagnosis of Gaucher Disease

Epidemiology and Natural History

Incidence and Prevalence

Metachromatic Leukodystrophy: Introduction and Overview

Metachromatic Leukodystrophy: Introduction and Overview

Diagnosis of MLD

Magnetic Resonance Imaging for MLD

Fabry Disease : Overview

Common Clinical Manifestations: Vascular

Fabry Disease : Overview

Common Clinical Manifestations: Psychiatric

Gaucher Disease: Overview

Etiology

Therapeutic Goals

Primary Therapy

Genetics of Metachromatic Leukodystrophy

Molecular Etiology

Epidemiology and Natural History

Incidence and Prevalence

Diagnosis of Hunter Syndrome

Diagnosis of Hunter Syndrome

Genetics of Gaucher Disease

Inheritance Pattern

Epidemiology and Natural History

Epidemiology

Diagnosis of MLD

Magnetic Resonance Imaging (MRI)

Fabry Disease : Overview

Common Clinical Manifestations: Dermatological

Fabry Disease : Overview

Common Clinical Manifestations: Otological

Diagnosis of Fabry Disease

Diagnosis of Fabry Disease by Gender

Diagnosis of Fabry Disease

Diagnostic Tests: Urinalysis and Skin Biopsy

The Inflammatory Response

Phagocytosis

Genetics of Gaucher Disease

Molecular Etiology

Hunter Syndrome: Introduction & Overview

Etiology: Mucopolysaccharidoses (MPS)

Diagnosis of Gaucher Disease

Clinical Signs and Symptoms

Therapeutic Goals

Management & Goals of Treatment

Genetics of Sanfilippo Syndrome

Inheritance Pattern

Epidemiology and Natural History

Incidence and Prevalence: Types A-D

Epidemiology and Natural History

Natural History

Genetics of Metachromatic Leukodystrophy

Inheritance Pattern

Fabry Disease : Overview

Common Clinical Manifestations

Fabry Disease : Overview

Common Clinical Manifestations: Physical

Fabry Disease : Overview

Common Clinical Manifestations: Renal

Fabry Disease : Overview

Common Clinical Manifestations: Ophthalmological

Fabry Disease : Overview

Common Clinical Manifestations: Pulmonary Involvement

Genetics of Fabry Disease

Inheritance Pattern

Epidemiology and Natural History

Incidence

Hunter Syndrome: Introduction & Overview

Etiology: Glycosaminoglycan (GAG)

Epidemiology and Natural History

Prevalence of Organ System Involvement in the HOS

Epidemiology and Natural History

Clinical Manifestations: Neurological/CNS Involvement

Sanfilippo Syndrome: Introduction

Sanfilippo Syndrome: Introduction and Overview

Genetics of Sanfilippo Syndrome

Molecular Etiology

Diagnosis of Sanfilippo Disease

Diagnostic Components and Findings

Management

Treatment Goals and Options

Diagnosis of MLD

Diagnostic Components and Findings

Fabry Disease : Overview

Common Clinical Manifestations: Gastrointestinal

Genetics of Fabry Disease

Molecular Etiology

Differential Diagnosis

Differential Diagnosis: Other Diseases that Share Some MS Features

Drug Discovery

Biomarkers

Types of Studies

Case-Control Study

Goals of Treatment

Hereditary Angioedema

Hunter Syndrome: Introduction

Hunter Syndrome: Introduction

Hunter Syndrome: Introduction & Overview

Overview of Clinical Features: Early Progressive and Slowly Progressive

Hunter Syndrome: Introduction & Overview

Hunter Outcome Survey

Genetics of Hunter Syndrome

Molecular Etiology

Fabry Disease: Introduction

Fabry Disease: Introduction

Impact

A Timeline

Development of Monoclonal Antibodies

Clinical Trial Goals

Types of Studies

Observational Studies: Cohort

Soft Tissue Sarcomas (STSs)

STSs: Mechanisms of Disease Development and Progression

Epidemiology and Natural History

Clinical Manifestations: Physical

Diagnosis of Hunter Syndrome

Diagnostic Tests

Gaucher Disease: Overview

Classification

Epidemiology

Incidence, Prevalence, and Demographics

Diagnosis of Gaucher Disease

Diagnostic Tests and Surveillance

Sanfilippo Syndrome: Introduction and Overview

Clinical Features

Epidemiology and Natural History

Natural History

Fabry Disease : Overview

Common Clinical Manifestations: Neurological

Epidemiology and Natural History

Natural History

Management

Goals of Treatment

Cellular Organelles

Cellular Organelles

Summary: Cell Structure and Mobility

Cell Structure and Mobility: Summary

Diagnosis of RA

Clinical Measures - Complete Blood Cell (CBC) Count

Genetic Epidemiology

Selected Analytic Study Designs

Neuropathology

Granulovacuolar Degeneration and Neuropil Threads

Treatment Options and Guidelines

Treatment Options for Metastatic Disease:Recommendations

Metachromatic Leukodystrophy: Introduction and Overview

Common Clinical Manifestations

Management

Treatment Goals and Options

Diagnosis of Fabry Disease

Diagnostic Tests: Enzyme Assay and Molecular Genetic

Pharmacological Treatments

Mixed Serotonergic Medications (Mixed 5-HT)

Management

Goals of Treatment

Gaucher Disease: Overview

Clinical Manifestations

Types of Studies

Design Types
Observational Studies: Cohort
Case-Control Study
Experimental Studies: D...

Impact

A Global Problem
A Timeline
HIV-1

Diabetes Clinical Trial Design: Cohort Designs

Cohort Study

Diabetes Clinical Trial Design: Case Control Designs

Case Control Study

Signs and Symptoms

Damage to Specific CNS Regions

Overlapping Diseases

SLE and Secondary Sjogren's Syndrome

Use of Novel Oral Anticoagulants

Acute Coronary Syndrome (ACS)

Other Biologics in Current Use - Anakinra

Use in RA, Indications, Dosage and Administration: Anakinra

Clinical Manifestations

Complications of Chronic Cholestasis

Causes of Secondary Hypertension

Causes of Secondary Hypertension

Epidemiology

Overview of HAE Epidemiology

Forms of Lupus

Cutaneous Lupus Erythematosus (CLE)
Forms of Lupus
Systemic Lupus Erythematosus

HCV Infection

Risk Factors Associated With Transmission of HCV
Impact of the Epidemic
HCV Infection

Statins

Side Effects

Diagnosis Confirmation

Confirmation of a Positive EIA
Western Blot
Confirmed Positive
Indeterminate Results

Psoriasis Therapies

Topical Vitamin D Analogs
Topical Vitamin D Analogs: Mechanism of Action
Topical Vitamin D...

Overview of Classification of Angioedema (AE)

Allergic Angioedema (Association with Urticaria)

Symptoms and Clinical Course of HAE

Overview: HAE Due to Decreased C1-INH

Prenatal and Postnatal Diagnosis

Diagnosis of HAE In Pregnancy

Psoriasis Therapies

Systemic Therapies: Methotrexate
Systemic Therapies Overview
Methotrexate: Mechanism of Ac...

PK Parameters

Systemic Clearance

Drug Discovery

Drug Discovery
Target vs. Platform-driven Discovery
Target Validation
Targeting Strat...

Management of Hypertension in Special Populations

Management of Hypertension in Special Populations

Introduction

Disease Overview: Mortality
MS Timeline
Etiology
Environmental Factors
Infectiou...

Prostate Cancer Risk Factors

Primary Risk Factors

Overlapping Diseases

SLE and Secondary Sjogren's Syndrome
SLE and Scleroderma
SLE and Overlapping Diseases ...

Overview of Obesity

Overweight/Obese Defined
Body Mass Index
Waist Circumference and Obesity
Cause of Obe...

VTE Clinical Picture: Risk Factors and Comorbid States

Risk Factors and Comorbid States

Development of Monoclonal Antibodies

Monoclonal Antibody Production in Hybridomas
Monoclonal Antibody Production in CHO Cells
M...

Pathophysiology

Immunopathophysiology: Myelin-Reactive T Cells
Immunopathophysiology: T Cell Initiation of MS -...

VTE Clinical Picture: Risk Factors and Comorbid States

Risk Factors and Comorbid States

Dyslipidemia Disease State

Etiology

Therapeutic Monoclonal Antibodies

Emerging Trends: Antibody-Drug Conjugates (ADCs)

Diabetes Annotations

Abasaglar insulin glargine

Biological and Physicochemical Determinants of PK

Drug Elimination: Metabolism and Excretion

Liver Diseases Overview

Genetic Diseases, Hereditary Hemochromatosis

Emerging Therapies

Phosphodiesterase III Inhibitors: Cilostazol (PLETAL)

PCSK9 Inhibitors

Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9)

Diagnostic Testing: Cerebrospinal Fluid (CSF)

Cerebrospinal Fluid (CSF)
CSF Findings in MS

Diagnostic Testing: Cerebrospinal Fluid (CSF)

CSF Findings in MS

Management of C1-INH-HAE

Long-Term Prophylaxis

Complications of RA

Major Organs Affected by RA

Diagnosis

Diagnostic Testing: CSF Findings in MS

Incidence and Risk of VTE in Cancer Patients

Risk Factors for Cancer-associated VTE

Traditional Immunosuppressive Therapies

Cytotoxic Agents

Triggers and Risk Factors for Migraine

Risk Factors

VTE Clinical Picture: Natural History, Clinical Syndromes, Complications

Natural History of VTE

Hemostasis

Disorders of Hemostasis: Abnormal Bleeding

Clinical Assessment Tools in Psoriasis

Clinical Assessment Tools

Clinical Presentation and Clinical Diagnosis of Alzheimer's Disease

Symptoms of Alzheimer's Disease

Typical Clinical Course

Organ Systems Involved

Criteria for the Diagnosis of Dementia Due to Alzheimer's Disease

Differential Diagnosis

Anemia

Red Blood Cell Transfusion

Steroids

Glucocorticoids: Mode of Action
The Anti-Inflammatory Effects of Corticosteroids
Glucocort...

Steroids

Glucocorticoids: Side Effects

Advancing Technologies

Biomarkers: Disease Process-Specific Biomarkers
Biomarkers: Inflammation Biomarkers
Biomar...

Traditional Immunosuppressive Therapies

Traditional Immunosuppressive Therapies
Traditional Immunosuppressive Agents
Corticosteroi...

Therapeutic Monoclonal Antibodies

Neutralization of a Circulating Factor
Complement Dependent Cytotoxicity
Antibody-Dependen...

Guidelines for Anticoagulant Venous Thromboembolism Therapy

Venous Thromboembolism Treatment: Complications During Therapy

Hypomethylating Agents

Hypomethylating Agents

Diagnosis

Overview: The Challenge of Diagnosis
Physical Examination: Motor
Physical Examination: Oth...

Anemia

Red Blood Cell Transfusion

Anemia

Neutropenia
Symptoms of Anemia that Warrant Treatment
Myelodysplastic Syndrome (MDS), Anem...

Hypomethylating Agents

Mechanism of DNA Methylation
Gene Silencing Following DNA Methylation
Hypomethylating Agen...

Hypomethylating Agents

Hypomethylating Agents