22 May 2009

Intra Cytoplasmic Sperm Injection (ICSI) Procedure

Intra Cytoplasmic Sperm Injection (ICSI) Procedure
Intracytoplasmic Sperm Injection procedure

The indications for ICSI and a video of the process


Chinese Fertilty Massage video

Chinese Fertilty Massage video

Massage techniques for blocked fallopian tubes, endometriosis, female fertility and fibroids.


Infertility - Advances in Treatment video(Part 2)

Infertility - Advances in Treatment video(Part 2)

Infertility affects thousands of couples. In this interview, Dr. Howard McClamrock discusses advances in understanding and treating infertility.

Part Two:
How in-vitro fertilization works
Who can benefit most
Egg retrieval
Pre-implantation testing
Intracytoplasmic sperm injection
GIFT and ZIFT procedures
Acupuncture and IVF
Frozen eggs

Dr. Howard McClamrock, director of the Center for Assisted Reproductive Technologies at the University of Maryland Medical Center. Dr. McClamrock is also an associate professor of obstetrics, gynecology and reproductive sciences at the University of Maryland School of Medicine.


Infertility - Advances in Treatment video (Part 1)

Infertility - Advances in Treatment video (Part 1)

Infertility affects thousands of couples. In this interview, Dr. Howard McClamrock discusses advances in understanding and treating infertility.

Part One:
Definition of infertility
Factors that affect women's fertility
Causes of male infertility
Finding the cause of infertility
Ovulation problems and treatments


Parkinson's Disease Guidelines video(Part 2)

Parkinson's Disease Guidelines video(Part 2)

Experts in Parkinson's disease have revised the guidelines for diagnosing and treating the disease in order to help people receive the best care. In this program, the Parkinson's disease specialist who was lead author of the guidelines explains what changes were made and why, along with the latest information about Parkinson's disease.

Part Two:
Deep brain stimulation
Complementary therapies
Benefits of exercise
Physical / speech therapy
Emotional effects of Parkinson's disease
Depression / anxiety
Mental / cognitive changes
Clinical trials
Future research - stem cells

Dr. William Weiner, chief of neurology at the University of Maryland Medical Center where he directs the Parkinson's Disease and Movement Disorders Center. Dr. Weiner is also professor and chairman of Neurology at the University of Maryland School of Medicine.


Parkinson's Disease Guidelines video(Part 1)

Parkinson's Disease Guidelines video(Part 1)

Experts in Parkinson's disease have revised the guidelines for diagnosing and treating the disease in order to help people receive the best care. In this program, the Parkinson's disease specialist who was lead author of the guidelines explains what changes were made and why, along with the latest information about Parkinson's disease.

Part One:
Parkinson's symptoms
Diagnosing Parkinson's disease
Progression of Parkinson's disease
Medications - Levodopa
Drugs for motor fluctuations


Hearing Loss, Vertigo and Facial Nerve Problems video (Part 2)

Hearing Loss, Vertigo and Facial Nerve Problems (Part 2)

Overview: Our ears play an important role in our lives, not just for hearing, but also for regulating our balance. This interview covers some major health issues involving our ears, including hearing loss and vertigo, as well as facial paralysis.

Guest: Dr. David Eisenman, an ear, nose and throat expert at the University of Maryland Medical Center and an assistant professor of otorhinolaryngology, head and neck surgery at the University of Maryland School of Medicine.


Hearing Loss, Vertigo and Facial Nerve Problems video(Part 1)

Hearing Loss, Vertigo and Facial Nerve Problems video(Part 1)

Overview: Our ears play an important role in our lives, not just for hearing, but also for regulating our balance. This interview covers some major health issues involving

our ears, including hearing loss and vertigo, as well as facial paralysis.

Part One:
How our ears work
Causes of hearing loss
Hearing tests
Medications for hearing loss
Hearing aids
Cochlear implants


Surgery for Lung Cancer video (Part 2)

Surgery for Lung Cancer (Part 2)

More than 85 percent of lung cancer cases are smoking-related. In this interview, we hear from a chest surgeon who specializes in treating lung and esophageal cancer about the trends in smoking in the United States. The interview also covers lung cancer, including how it develops and how it is treated.

Part Two:
Diagnosing lung cancer
Types of lung cancer
Lung cancer symptoms
Recurrence Rate



Surgery for Lung Cancer Video (Part 1)

Surgery for Lung Cancer (Part 1)

More than 85 percent of lung cancer cases are smoking-related. In this interview, we hear from a chest surgeon who specializes in treating lung and esophageal cancer about the trends in smoking in the United States. The interview also covers lung cancer, including how it develops and how it is treated.

Part One:
Cancer death rates
Trends in smoking
Lung cancer
Pack years
Second hand smoke



Crohn’s Disease Presentations

Crohn’s Disease Presentations
University of Maryland Inflammatory Bowel Disease Symposium 2006

Management Dilemmas in Ulcerative Colitis
By:Stephen Bickston, M.D.
Assistant Professor of Medicine, University of Virginia

Management Dilemmas in Crohn's Disease
By:Raymond Cross, M.D.
Assistant Professor of Medicine
Director, IBD Program
Division of Gastroenterology and Hepatology, University of Maryland

Perioperative Management of the Patient with Crohn’s Disease
By:David Binion, M.D.
Director, IBD Center
Associate Professor of Medicine
Division of Gastroenterology & Hepatology, Medical College of Wisconsin

Perianal Crohn’s Disease: "A review and exploration on how to improve outcomes through the use of imaging"
By:David A. Schwartz, M.D.
Director, Inflammatory Bowel Disease Center
Vanderbilt University Medical Center

Source:University of Maryland Medical Center


Inflammatory Bowel Disease Symposium 2007 Presentations

University of Maryland Inflammatory Bowel Disease (IBD)Symposium 2007 Presentations

Colorectal Dysplasia/Cancer in IBD
by:David Rubin, M.D.
Associate Professor of Medicine
Co-Director, Inflammatory Bowel Disease Center, University of Chicago Medical Center

Issues in the Care of Pediatric and Adolescent IBD
By:Marla Dubinsky, M.D.
Assistant Professor of Medicine and Director of the Pediatric Inflammatory Bowel Disease Center, Cedars-Sinai Medical Center, California

Hepatic Complications in IBD
By:Preeti Reshamwala, M.D.
Assistant Professor of Medicine
Medical Director, Transplant Hepatology
University of Maryland Medical Center

Use of Psychotropic Agents in the Treatment of IBS
By:Arnold Wald, M.D.
Associate Professor of Medicine Section of Gastroenterology and Hepatology
University of Wisconsin School of Medicine and Public Health Madison, Wisconsin

Utility of Capsule Endoscopy in IBD and IBS
By:Eric Goldberg, M.D.
Assistant Professor of Medicine
Division of Gastroenterology & Hepatology
University of Maryland Medical Cente

Prebiotics, Probiotics, and Antibiotics; Controversies in the Treatment of IBS
By:Brian E. Lacy, Ph.D., M.D.
Associate Professor of Medicine, Dartmouth Medical School
Director, GI Motility Laboratory, Dartmouth-Hitchcock Medical Center

Novel Diagnostic Techniques in IBD
By:Mark Flasar, M.D.
Assistant Professor of Medicine
Division of Gastroenterology and Hepatology
University of Maryland Medical Center

Emergence of New Biologic Agents in IBD; Top Down vs. Step Up Approach
By:David G. Binion, M.D.
Director, IBD Center, Division of Gastroenterology & Hepatology
Professor of Medicine, Medical College of Wisconsin

Safety Concerns with IBD Therapy
By:James D. Lewis, M.D., M.S.C.E.
University of Pennsylvania, Division of Gastroenterology Center for Clinical Epidemiology & Biostatistics

Source:University of Maryland Medical Center


Dealing with infertility Video

Dealing with infertility Video


20 May 2009

Behavioral Approaches to Early Intervention with Autism

Behavioral Approaches to Early Intervention with Autism
Presentation by:WAYNE W. FISHER
Munroe-Meyer Institute at the
University of Nebraska Medical Center

Autism and Childhood Schizophrenia
Definition of Autism
Autism Spectrum Disorders
Prevalence of Autism
NIH Research Dollars Devoted to Autism
Juvenile Diabetes
Muscular Dystrophy
Cystic Fibrosis
Prevalence of Autism and Other Conditions
Demographics of Autism
Assessment and Diagnosis of Autism
Identifying the Genetic Bases of Autism Spectrum Disorders
Early Screening for Autism (NICHD)
Early Screening for Autism (CHAT)
Associated Disorders
Autism ASD
Associated Etiologic Diagnoses
* Fragile-X syndrome
* Tuberous Sclerosis
* Williams syndrome
* Landau-Kleffner syndrome
* Congenital Rubella
* Smith-Magenis syndrome
* Neurofibromatosis

Genetics and Twin Studies
* Autism runs in families
* Heritability for autism is about 90%
* Monozygotic twin concordance, 60%-100%
* Dizygotic twin concordance, 10%
* Associated with abnormalities on chromosomes 7q, 2q, and 15q

Applied Behavior Analysis (ABA)
* What is ABA?
* How is it different from other approaches?
* How is it done?

Historical Roots of Behavior Analysis
How Effective is ABA for Autism?
Outcomes of ABA for Autism
How Effective is ABA for Autism?
Why is ABA Effective?
Why is ABA Effective with Autism?
Example of Individual Goals for Billy
Teaching Imitation Using Discrete Trials
Generalization of Skills
Differential Reinforcement + Feedback
Billy: Imitating a Model
Early Behavioral Intervention for Autism
Cost-Benefit Analysis of Early, Intensive ABA for Autism
Assessing Children with Autism
Periodic Assessment for Diagnosis and Management
Components of a Diagnostic Assessment
Ongoing Assessment for Intervention
Assessment of Skills to Increase
Skill Assessment Areas
Matching Skills Progression
Social Skills Progression
Preference Assessments
Steps of Preference Assessments
Single-item Preference Assessments
Paired-Choice Preference Assessment
Group Preference Assessment- MSWO
Preference Assessment Outcome
Compliance and Cooperation Training
Teaching Tolerance for Instructional Task
Percentage of Intervals of Aggression and Disruption
Compliance Training
Improving Vocabulary Skills in Children with Autism
Vocabulary as a Critical Skill
Vocabulary Size
Advantaged Children
Disadvantaged Children
Vocabulary as a Critical Skill
Vocabulary and Reading
Individualized Vocabulary Lists with Normative Relevance
Developing an Individualized Vocabulary List
Behavior Analytic Approaches to Vocabulary Development
Conditional Discriminations Involving Deictic Words
Three- and Four-Term Contingencies
Stimulus – Response – Reinforcer
Conditional Stimulus – Stimulus – Response – Reinforcer
Spoken-Word-to-Picture Discriminations
“Point to Dog”
Building Working Vocabularies
Functional Approaches to Teaching Conditional Discriminations in Autism
Teaching Conditional Discriminations to Inattentive Learners
Treatment and Control Conditions
Vocal Mand Assessment
Social Skills Training
Initial Toilet Training

Behavioral Approaches to Early Intervention with Autism.ppt/


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
IQ range
Support required
Educational Classification
Level of MR
Etiology of 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


Genetic Diseases

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

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)

HLA antigens
Serum proteins
Blood groups
Structural changes
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
Crystals in kidney
Stones in kidney
Renal injury
Blockage of tubules
Tubular loss
Renal failure
T Insertion
Recognition Sequence by Tru9I
TCT Deletion
Recognition Sequence by Mbo II
APRT Mutations
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
Urinary frequency
Serious infections
Abdominal pain
Chest problems
Infection Necrosis
Complications of Sickle Cell Disease
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

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

Genetic Disorders: Here and Now
Era of Genetic Medicine

Genetic Diseases.ppt


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

* 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

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

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

* 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
Experimentally Produced Tetraploids
Yeast Models
Allotetraploid Formation
Wheat/Rye Cross
Somatic Cell Hybridization
Protoplast Fusions
Chromosome Rearrangements
Consequences of Rearrangements
Compensation Loop in a Polytene Chromosome
Unequal Crossing Over
Position Effects
Gene Duplication and Evolution
Chromosomal Inversions
Inversions and Gametogenesis
Inversions and Recombination
Familial Down Syndrome
Fragile Sites
Fragile X Syndrome
Fragile X Chromosomes

Variations in Chromosome Number and Arrangement.ppt


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


Rates of Autism in Fragile X syndrome

Rates of Autism in Fragile X syndrome (FXS)

* 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.


* 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.

* 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

* 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

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

* 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)

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.


* 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


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.

* 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

* 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

* 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.

* 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.


* 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


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.


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)


* 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.

* 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


PubMed Search Engines Resource Guide

PubMed Search Engines Resource Guide

This information is provided by Margaret Henderson, Librarian VCU Libraries

There is more than one way to search the medical literature (PubMed) stored at the National Library of Medicine. Entrez is the search engine created by NLM to search PubMed, but just like there are multiple search engines to search the Internet (Google, Netscape, etc.) there are multiple engines that can be used to search PubMed. As different groups and people have needed different things from the literature, they have created front-ends or 3rd party tools to search the medical literature. Some of these PubMed interfaces are useful if your specific needs correspond to those of the search tool.

Full details here


19 May 2009

Pharmacology Basics

Pharmacology Basics

First rule of thumb:
* Ancient vs. Modern Pharmacology
o Pharmekos-study of medicine/drug
o Ology-study
* Studies effects of drugs/how they exert their effects

Therapeutic Purposes of Medications
* Prevent disease
* Diagnose disease
* Cure disease
* Relief of symptoms

* A drug may be defined as:
o Any substance taken by mouth; injected into a muscle, blood vessel, or cavity of the body; inhaled, or applied topically to treat or prevent a disease or condition.
* Drug- any substance that alters physiologic function w/potential for affecting health
* Drug interaction
* Adverse drug reaction-undesirable drug effect

Sources of Drugs
* Plants
* Animals
* Minerals or mineral products
* Synthetic chemical compounds
* Biotechnology

Drug Nomenclature
Drug Classification Indicates
Forms or Preparations of Drugs
* Liquid (solution, elixir, emulsion, spirit, syrup, suspension)
* Solid (tablet, capsule, powder, granules)
* Suppository (rectal, vaginal)
* Creams or lotions
* Aerosol
Sources of Drug Information
* Pharmacology textbook
* Pharmacists
* Internet sources
* Journal articles
* Drug reference books

Drug Standards Ensure
* Strength or potency
* Purity
* Efficacy
* Safety
* Bio-availability

Federal Drug Laws in the USA
Categories of Controlled Substances
* Schedule I - not approved for medical use and have high abuse potential
* Schedule II - used medically and have high abuse potential
* Schedule III - less potential for abuse but may lead to physical or psychological dependence
* Schedule IV - some potential for abuse
* Schedule V - contain mod. amounts of controlled substances, limited abuse potential

Scope of Management
Medication Assessment
Name of Medication
Include Generic & Brand Name Classification
Ordered Dose & Route
Is Dose Safe?
Standards of Practice
* Information for Administering Medications
o Generic Name/Trade Name/Classification
o Clinical Uses/Safe Dosage
o Mechanism of Action
o Side Effects/Adverse Effects
o Contraindications/Precautions
o Significant Drug Interactions
o Monitoring Needs/Client Teaching
o Evaluation of Effectiveness

N.C. Nursing Practice Act
Routes of Administration
Three Phases of Action
Factors Which Influence Drug Absorption
Factors Which Influence Drug Distribution
Protein Bound Drugs
Highly protein bound drugs
First Pass Effect
Serum Half-Life
Time Intervals of Drug Action
Therapeutic Index
Drug interactions:
Drug Effects
Non-therapeutic Drug Use
Common or Serious Side Effects
Drug Related Variables Affecting Drug Actions
Client Variables Affecting Drug Actions
Nursing Process

Pharmacology Basics.ppt


Antiretroviral Therapy

Antiretroviral Therapy: Adherence, Drug Interactions, and Safety Among Women
Presentation by: Melissa D. Johnson, PharmD, MHS

* Identify adherence barriers and motivators specific to women
* Discuss several drug-drug interactions of particular interest among women with HIV
* Describe mechanisms of gender differences antiretroviral pharmacokinetics and the potential implications of this on toxicity

Factors contributing to poor adherence among women
HIV-infected women have higher incidence of:
o Depression
o Emotional stress
o Fatigue and anxiety
o Physical and sexual abuse
o Stigma, rejection, and isolation
o Hiding diagnosis

Barriers to adherence among HIV-infected women
Factors influencing adherence
* Treatment experiences
* Support from provider and others
* Health care environment and material factors
* Informational resources

Factors influencing adherence
Beliefs, attitudes and behaviors regarding adherence among women
Motivators of adherence
o Physician
o Quasi-scientific rationale
o Belief that the drugs work
o Religiosity and faith (support from God)
o Family members (mom)
o Secular popular cultural prescription
o Television talk shows
o The body instinct (my body tells me when I need it)
o Friends
o Self (I know when I need it)
o The belief in the power of positive thinking
o Individual responsibility

African-American women in an inner city clinic, cited sources encouraging adherence:
Approaches to improve adherence
* Motivational interviewing/group workshops
* Positive life skills programs
* Modified directly observed therapy
* Cognitive-behavioral therapy for substance abuse
* Customized telephone calls
* Buddies/peer support

Approaches to improve adherence
KHARMA project
Motivational Interviewing principles:
* Expressing empathy and building rapport, through reflective listening and acceptance
* Highlighting the discrepancy between current behavior and it’s effect on the patient’s life goals
* Avoiding conflict by using a positive approach and avoiding negating and direct confrontation
* Assisting patients in exploring options, as a means of overcoming ambivalence or resistance to change
* Supporting self-efficacy and encouraging patients to consider and choose personal options, and to develop belief in their own power to make changes

Schema of KHARMA Workshops
Summary & Termination: Putting it all Together with Goals and Values
Disclosure of HIV Status: To tell or Not to Tell
Risk Reduction behavior: Balance & Negotiation
Risk Reduction behavior: Knowledge & Skills
Sharing successes & ART Strategies
ART Adherence: Change & Exploring Goals
ART Awareness: The Good Things and the Not so Good Things
Introduction, Group Guidelines, Exploration of Lifestyles

* United Nations
o UNIFEM Gender and HIV/AIDS Web Portal
* South Africa HIV and AIDS Information Dissemination Service
o Women’s treatment literacy toolkit:
o HIV/AIDS Bureau

Approved Antiretroviral Agents 1987-2008

Non-nucleoside RTI
Protease Inhibitor
Fusion Inhibitor
Nucleoside RTI
Common Drug Interactions
Drug Interactions: Methadone
Decrease Methadone levels
* Efavirenz
* Nevirapine
* Amprenavir/fosamprenavir
* Nelfinavir
* Ritonavir
* Lopinavir/ritonavir
* Saquinavir/ritonavir

Methadone effects on other agents:
Drug Interactions: OCs
At risk for pregnancy
Mechanisms of differential PK
Lower hepatic p-glycoprotein in women
CNS effects
Concentrations in Women vs. Men
Toxicity in Studies of PIs
HAART including at least one PI
Toxicity in women vs. men
Focusing on Safety

Antiretroviral Therapy.ppt


Food/Drug Interactions

Food/Drug Interactions
Presentation by:M. Burns, PhD, RD

Drug therapy
* Long-term care
* Numerous drugs
* Therapeutic side effects
* Alters nutritional status

* Joint
* Commission
* Accreditation
* Healthcare
* Organizations

Drug-induced malnutrition
* Numerous meds at one time
* Sudden increased need
* Genetics
* Body composition

High-risk Groups
* Developing fetus, infants
* Pregnant women
* Elderly
* Chronically ill

What is a drug?
* Chemical that interacts with a living organism to produce physiologic response
What is bioavailability?
* Proportion of drug that passes into the circulation


with increased meds there is an increased chance for drug-nutrient interactions.

Commonly affected nuts
* Calcium
* Folate
* Pyridoxine
* Vitamin A
Effects on Nut’l Status
* Dietary intake
* Affects nutrient absorption
* Affects nutrient metabolism
* Include meds in SOAP note
* Assess nut’l status in regards to interactions

Appetite -- Table 18.1 and 18.3
Dysgeusia -- change taste sensation
Hypogeusia -- reduce acuity of taste
Aftertaste -- Table 18.2
Cravings -- duiretics crave salty foods
Absorbed in small intestine, therefore, FNI are common here…
Transit time -- laxatives, diuretics
Bile acid -- affects fat absorption, chol, ADEK
GI environment -- antacids changes pH
Mucosal lining -- laxatives
Antivitamins -- used in chemo tx, rheumatoid arthritis
MAO inhibitors -- monoamine oxidase, calls for tyramine-restricted diets
Anticonvulsants -- phenobarbital -- low folate, biotin and VD
Oral conceptives -- folate and B6
Anti-inflammatory -- Ca absorption reduced and excretion increased can cause GI bleeding leading to Iron deficiency and protein loss
Anti-hypertensives -- Diuretics affect mineral metabolism (K, Ca, Mg, Zn)

Food / Drug Interactions.ppt


Biogenic Amines in Foods & MAOI Drugs

Biogenic Amines in Foods & MAOI Drugs
A Crossroads Where Medicine, Nutrition, Pharmacy, and Food Industry Converge
* Beverly J. McCabe-Sellers, PhD, RD, LD
* Cathleen Staggs, MS
* Margaret L. Bogle, PhD, RD, LD
* Lower Mississippi Delta Nutrition Intervention Research Initiative
* Little Rock, AR 72211

Biogenic Amines in Foods
* What are Biogenic Amines (BAs)?
* What are MAOI drugs?
* Why be concerned?
* What are the problems in establishing BA content of foods?
* Why is interdisciplinary collaboration essential?

Biogenic Amines
* Organic bases usually produced by decarboxylation of amino acids or by amination and transamination of aldehydes and ketones.
* Vasoactive or psychoactive amines.
Decarboxylation Reactions: Free Amino Acid to Biogenic Amine

* Histidine
* Arginine
* Phenylalanine
* Tyrosine
* Tryptophan
* Histamine
* Putrescine
* 1-phenylethylamine &
* Tyramine
* Tryptamine
Vasoactive Pressor Amines
* Tyramine
* Tryptamine
* phenylethylamine

Tyramine:Physiological Effects
* Peripheral vasoconstriction
* Increased cardiac output
* Increased respiration
* Elevated blood sugar
* Release of norepinephrine

Tyramine Detoxification
MAOI Drugs
* Used to inhibit the actions of Monoamine Oxidase, especially in CNS as antidepressant
* More effective than other antidepressants in some subgroups, e.g. anxiety depressions, older adults
Tyramine and the Cheese Reaction
Foods with Tyramine
Banana pulp or Banana Peel
Potential for Tyramine Formation
Fermented: Sauerkraut
Mushrooms: Long storage, temperature abuse.
Questions about Early Analyses
Review of Published Values
* 289 food values and 108 alcoholic beverage values since 1981
* 15 (6%) foods were deliberately aged
* 65 (22%) contained sufficient tyramine to induce clinical reaction if 1-2 servings were consumed....

Food Science has brought us….
* Better technology to detect BA
* Food handling processes = improves food
* Over 100 articles addressing methods/processes of detecting or preventing tyramine development.
Newer generations and new modes of administration that lower the risks for food-drug interaction.
* Selective reversible MAOIs allow treatment of Parkinson Disease with little risk of hypertensive crisis.

Pharmaceutical Advances
Science promises….
Nutritionists bring….
Best Dietary Advice with MAOIs
* Buy fresh.
* Cook fresh
* Eat fresh

Biogenic Amines in Foods & MAOI Drugs.ppt


Grapefruit Juice: Interactions with Prescription Drugs

Grapefruit “Juicy” Details on Health Benefits and Drug Interactions
Presentation by:Elaine Turner & Gail Rampersaud, FSHN
University of Florida

Grapefruit Juice: Interactions with Prescription Drugs
Grapefruit Juice: What’s the Story?

Some pills become too potent when you drink grapefruit juice Grapefruit juice and drugs don’t mix
Forbidden Fruit? Grapefruit Juice-Medicine Interaction Studied Grapefruit Takes the Defense Sex, drugs, and grapefruit

Food/Drug Interactions
Food can affect:
* absorption
* utilization
* excretion
Influence can be:
* positive
* negative

Effects of Grapefruit Juice Enhances Absorption
* inhibits an intestinal enzyme
* less metabolism in GI tract
* like giving larger dose

Normal Drug Metabolism
Effect of Grapefruit Juice
Enzyme Inhibition
Effects of Grapefruit Juice
Are All Drugs Affected? – no!

* oral medications only
* low bioavailability
* amount of effect varies

Which Types of Drugs are Affected?
* Antihypertensives
* Immunosuppressants
* “Statins”
* Anti-anxiety, Antidepressants
* Antihistamines
* HIV/AIDS protease inhibitors

Which Types of Drugs are Affected?
* Usually an alternative drug is available
o e.g., Pravachol instead of Lipitor

Consumer Actions
Ask Pharmacist:
Consumer Actions
Ask Physician:
Take Home Message
Media Statements:

* Usually too general
* Talk with pharmacist and physician
* May not need to avoid grapefruit juice

Grapefruit juice and drugs don’t mix.ppt


Nutrient-drug interaction

Nutrient-drug interaction
Presentation by:Dr. Wassef
Department of Food Science

Definition of drug
* Medicine that helps recover from illness
* Illegal substance that leads to bodily harm and addiction
* Any substance that modifies one or more body functions

Multiple effects of drugs
* For example, Aspirin….
* Limits production of prostaglandins
* Prostaglandins help to produce fevers, sensitize pain receptors, cause contractions of the uterus, stimulate digestive tract motility, control nerve impulse, regulate blood pressure, promote blood clotting, cause inflammation.
* By interfering with prostaglandin actions, aspirin may have multiple effects!
* Nutrient-drug interaction can lead to nutrient imbalance or it can interfere with drug effectiveness
* Adverse interactions occur most likely if drugs are taken over long periods, if several drugs are taken or if nutrition status is poor
* Elderly people with chronic diseases are most vulnerable

Action of a Drug

o Dissolve in stomach
o Absorbed in blood and moves to where needed
o Has a reaction
o Eliminated

Action of a Food/Nutrients
o Digestion in stomach
o Absorbed in blood and moves to where needed
o Has a reaction/stored
o Not needed is Eliminated

Type of interactions
* Drugs can alter food intake, absorption, metabolism and excretion of nutrients
* Foods and nutrients can alter absorption, metabolism and excretion of drugs

Mix Food, Drink and Drugs Carefully
* Ask doctor questions
* Talk to pharmacist
* Read medicine labels
* Read printed material from pharmacy
* Read inserts provided by manufacturers

Nutrient-Drug Interactions
Don’t mix a drug directly into a food or drink
Know Whether the Drug Should Be Taken on a Full or Empty Stomach
A New Concern - Grapefruit
* Can cause more of a drug to be absorbed from intestine – even toxic levels
* Interfere with the activity of a specific enzyme in the intestine – cytochrome

Drugs may not work when dairy products are consumed
* Tetracycline (also no iron supplements)
* Antifungal medicines
o Examples Diflucan and Nizoral
Drugs may require dairy products to work
* Progesterone supplementation

High Blood Pressure Medicine
* May need more or less potassium in your diet depending on the medicine
* Examples of high potassium foods – bananas, oranges, potatoes, leafy green vegetables, tomatoes

Coumadin and Vitamin K structural analog
* Coumadin prevents clots; Vit K helps to make clots
* Keep intake of foods containing Vitamin K constant
* Vitamin K is high in spinach, kale, turnip greens, cauliflower, broccoli, brussel sprouts and other leafy greens
* Also don’t take Vitamin K or E supplements

Used in cancer therapy
Displaces folate (antagonist) and causes folate deficiency
Tyramine found in some food.
Monoamine oxidase inhibitors (MAOi)
MOA Inhibitors
Coumadin – blood thinner
Dilaritin – anti-seizure
Norvasc – anti-hypertension
Oral Contraceptives
Dyazide – diuretic
Tetracycline – Antiboitic
Lipitor/Statin – Cholesterol lowering
Prednisone – corticosteroid
Lasix - diuretic
Vitamin K
Vitamin D and Folate Deficiency
Decrease Vitamin C
Decrease Vitamin B and folate
Decrease Potassium
Antioxidants (Vitamin A, E, C)
Increase Appetite
Take NO Medicines with Alcohol
Alcohol & Pain Medicine
* Don’t take with alcohol to prevent stomach bleeding and irritation
* Don’t have more than 3 drinks per day to prevent liver damage if taking Tylenol
* Interact with enzymes – reducing effect of medicine
* Compete – leaving the drug longer - toxic
Alcohol & Other Medicines
* Can lower blood pressure too much with beta blockers and nitrate containing drugs
* Can cause liver damage with statin drugs
* Beta blocker – Inderal, Lopressor
* Nitrates – Nitro, Transderm Nitro, Isordil
* Statins – Lipitor, Mevacor, Zocor, Prevachol

Alcohol & Medicines for Depression and Anxiety
* Never mix with alcohol with any of these drugs! – make you more depressed and anxious
* Also caffeine may decrease the effectiveness of anti-anxiety drugs

Medicines may contain additional ingredients…..
The health-professional and nutrient-drug interactions
In Summary

* Tell your doctor and pharmacist about all your medicines
* Take your medicines to every doctor visit
* Learn all you can about your drugs
* Use alcohol and caffeine very cautiously if at all
* Drink plenty of water

Everybody is different
The Right Drug
To The Right Patient
For The Right Disease
At The Right Time
Goals of Pharmacogenomics

Nutrient-drug interaction.ppt


Food-Drug Interactions

Food-Drug Interactions

Definition of Terms
* Drug-nutrient interaction: the result of the action between a drug and a nutrient that would not happen with the nutrient or the drug alone
* Food-drug interaction: a broad term that includes drug-nutrient interactions and the effect of a medication on nutritional status

Food-Drug Interaction
* For example, a drug that causes chronic nausea or mouth pain may result in poor intake and weight loss
Key Terms
* Bioavailability: degree to which a drug or other substance reaches the circulation and becomes available to the target organ or tissue
* Half-life: amount of time it takes for the blood concentration of a drug to decrease by one half of its steady state level
* Side effect: adverse effect/reaction or any undesirable effect of a drug

Other Terms
* Bioavailability: % free to function
* Absorption rate: % absorbed and time for absorption
* Transported: amount in blood (free or bound)
* Metabolized: altered by enzymes in tissues
* Mixed-function oxidase system (MFOS): enzyme system that metabolizes drugs, carcinogens, compounds in foods, etc.

Movement of drugs through the body by
* Absorption
* Distribution
* Metabolism
* Excretion
Benefits of Minimizing Food Drug Interactions
* Medications achieve their intended effects
* Improved compliance with medications
* Less need for additional medication or higher dosages
* Fewer caloric or nutrient supplements are required
* Adverse side effects are avoided
* Optimal nutritional status is preserved
* Accidents and injuries are avoided
* Disease complications are minimized
* The cost of health care services is reduced
* There is less professional liability
* Licensing agency requirements are met

Therapeutic Importance
Patients at Risk for Food-Nutrient Interactions
* Patient with chronic disease
* Elderly
* Fetus
* Infant
* Pregnant woman
* Malnourished patient
* Allergies or intolerances

Food and Drug-Related Risk Factors
* Special diets
* Nutritional supplements
* Tube feeding
* Herbal or phytonutrient products
* Alcohol intake
* Polypharmacy
* Drugs of abuse
* Non-nutrients in foods
* Excipients in drugs or food

Malnutrition Effect on Drugs
Food/Nutrient Effects on Drugs
Food/Nutrient Effects on Drugs
Changes in diet may alter drug action
Grapefruit Inhibits Metabolism of Many Drugs
Drugs known to interact with grapefruit juice
* Anti-hypertensives (filodipine, nifedipine, nimodipine, nicardipine, isradipine)
* Immunosuppressants (cyclosporine, tacrolimus)
* Antihistamines (astemizole)
* Protease inhibitors (saquinavir)
* Lipid-Lowering Drugs (atorvastatin, lovastatin, simvastatin)
* Anti-anxiety, anti-depressants (buspirone, diazepam, midazolam, triazolam, zaleplon, carbamazepine, clomipramine, trazodone

Food/Nutrient Effects on Drug Action: MAOIs
Food/Nutrient Effects on Drug Action: Caffeine
Food/Nutrient Effects on Drug Action: Warfarin
Food/Nutrient Effects on Drug Action: Alcohol
Drug Effects on Nutrition: Metabolism
Drug Effects on Nutrition: Excretion
Drug Effects on Nutrition: Absorption
Drug Side Effects that Affect Nutritional Status
Examples of Drug Categories That May Decrease Appetite
Drugs That May Increase Appetite
Drugs Affecting Oral Cavity, Taste and Smell
Drugs that Affect the GI Tract
Examples of Drug Classes That Cause Diarrhea
Drugs That May Lower
Glucose Levels
Drugs That Raise Blood Glucose
Nutrition Implications of Excipients in Drugs
Nutrition Implications of Excipients in Drugs
Food/Nutrient Effects on Drugs – Enteral Feedings
Enteral Nutrition and Drugs
MNT for Food-Drug Interactions
TJC 2006 Standards Re Education on Medications
Avoiding Food-Drug Interactions: Prospective
Avoiding Food-Drug Interactions: Retrospective
Avoiding Food-Drug Interactions: Example

Food-Drug Interactions.ppt


Laryngeal Mass

Laryngeal Mass
Presentation by:John F. McGuire, MD, MBA

Case Presentation
Differential Dx
Topic of this Presentation
OCT Today
OCT tomorrow???
Laryngeal Cancer
Clinical Pearls
Anatomy: Think Spaces

* Quadrangular membrane: Fibrous drape from epiglottis over arytenoids.
* Conus elasticus: See diagram.
* Anterior commissure tendon (Broyles ligament):
- No perichondrium.
* Hyoepiglottic ligament:
* Paraglottic space:
* Superior border : quadrangular membrane
* Inferior border: conus elasticus
* Lateral border: inner surface of the thyroid cartilage
* Medial border: ventricle

T3 supraglottic cancer spreading into glottis through the paraglottic space.
* Preepiglottic space
* Superior border : hyoepiglottic ligament
* Anterior border: thyrohyoid membrane and ligament
* Posterior border: anterior surface of the epiglottis and thyroepiglottic ligament
* Clinical note:

Is this T1 or T2???
Anatomy and Cancer
* Weak points for the spread of laryngeal cancer
Anatomy: Lymph Drainage
* Clinical notes:
Path of subglottic tumor spread
Supraglottic nodal spread patterns
Staging: Glottic
Staging: Supraglottic
Staging: Nodal Disease
Overall Stage
Carcinoma in situ
Organ Sparing Surgery
Vertical Hemilaryngectomy
Supracricoid Partial Laryngectomy (SCLP)
Exclusion Criteria:
Transoral Laser Resection
Laryngeal Preservation
Neck Dissection in No Neck getting XRT?
Complications of TL
Chyle Fistula
Stomal Recurrence

Laryngeal Mass


Management of Patients with Upper Respiratory Tract Disorders

Management of Patients with Upper Respiratory Tract Disorders

Peritonsillar Abscess
Upper Airway Infections
Upper Airway Infections : Nursing Interventions
Obstructive Sleep Apnea
Upper Airway Obstruction
Upper Airway Obstruction Inverventions
Nasal Polyps
Facial Trauma Interventions
Fracture of the Nose
Disorders of the Larynx
Cancer of the Nose and Sinuses
Neck Trauma
Head and Neck Cancer
Ineffective Breathing Pattern
Surgical Management
Preoperative Care
Postoperative Care
Airway Maintenance and Ventilation
Wound, Flap, and Reconstructive Tissue Care
Wound Breakdown
Pain Management
Speech Rehabilitation
Risk for Aspiration
Anxiety Interventions
Disturbed Body Image
Stoma Care

Management of Patients with Upper Respiratory Tract Disorders.ppt


Laryngeal Cancer

Laryngeal Cancer
Presentation by:Anh Q. Truong
University of Washington, SOM

Anatomy – subdivision
Incidence by Site
Risk Factors
* Signs and symptoms
Clinical Presentation
* Physical Exam
o Complete head and neck exam
+ Palpation for nodes; restricted laryngeal crepitus.
o Quality of voice
+ Breathy voice = cord paralysis
+ Muffled voice = supraglottic lesion
o Laryngoscopy
+ Laryngeal mirror
+ Fiberoptic exam (lack depth perception)
+ Note: contour, color, vibration, cord mobility, lesions.
o Stroboscopic video laryngoscopy
+ Highlights subtle irregularities: vibration, periodicity, cord closure
Differential Diagnosis
* Infectious
* Inflammatory
* Granulomatous disease (TB, sarcoidosis)
* Papillomatosis
* Lymphoma
* CT or MRI
* Ultrasound
Biopsy and Histology
* Glottis
* Subglottis
* Nodes
* Mets
Stage Grouping
Advanced stage
* Surgery
o Microlaryngeal surgery
o Hemilargyngectomy
o Supraglottic laryngectomy
o Near-total laryngectomy
o Total laryngectomy
* Photodynamic Therapy
* Radiation
* Chemothrapy
Treatments – Options
Treatment – Early Stage (I/II)
Dose Fractionation
Treatment – Advanced Stage (III/IV) – VA Study
Overall Survival
Treatment – Advanced Stage (III/IV) – RTOG 91-11 Study
Laryngeal Preservation
Concurrent chemoXRT
Anticipated Toxicities
Take Home Points
An Actual Picture of a Laryngeal Cancer

Laryngeal Cancer.ppt


Speech Generation and Perception

Speech Generation and Perception

Schematic diagram of the human speech production
Organs of Speech :
* Lungs and trachea :
o source of air during speech.
o The vocal organs work by using compressed air; this is supplied by the lungs and delivered to the system by way of the trachea.
o These organs also control the loudness of the resulting speech.
o The trachea and lungs together constitute the pulmonary tract.
* The Larynx :
o This is a complicated system of cartilages and muscle containing and controlling the vocal cords. Principle parts are :
o The place where the vocal folds come together is called the glottis.
* The Vocal Tract :
o Laryngeal pharynx
o Oral pharynx
o Nasal pharynx
o Oral cavity
o Nasal cavity
Vocal Tract
Vocal Tract Model
A General Discrete-Time Model For Speech Production
Time Waveform Of Volume Velocity Of The Glottal Source Excitation
Magnitude Spectrum Of One Pulse Of The Volume Velocity At The Glottis
Position Of The Vocal Cords And Cartilages (a) For Phonation (b) For Whispering
Speech Production :
* The operation of the system is divided into two functions :
o Excitation
o Modulation
* Excitation :is done in several ways

Hearing and perception :
The structure of peripheral auditory system :
Sectional View Of The Human Ear
The Cochlea as It Would Appear If Unwound
Cross Section Of One Turn Of The Cochlea
Position Of Maximum Amplitude Along Basilar Membrance As A Function Of Applied Frequency
Frequency Response Of a Point On The Basilar Membrance

Speech Generation and Perception.ppt


Current Diagnosis and Treatment of Voice Disorders

Current Diagnosis and Treatment of Voice Disorders
Presentation by:Seth H. Dailey, MD
Assistant Professor
University of Wisconsin Hospital and Clinics
University of Wisconsin School of Medicine
Internal Medicine Grand Rounds:February 28th, 2007

Laryngeal Anatomy
* Three surrounding structures- pharynx, trachea and esophagus
* Three levels - supraglottis, glottis and subglottis
* Three fixed structures - hyoid, thyroid and cricoid
* Three mobile structures -epiglottis, false vocal cords and true vocal cords (folds)

Laryngeal Physiology
* Three main functions - airway, swallowing and voice
* Three criteria for voice- generator, vibrator resonator
* Three components for high quality glottic voice - closure, pliability and symmetry

Common disorders affect the “magic three”
* Closure - neuromuscular, joint, vocal fold
* Pliability - “golden layer” - mass, scar
* Symmetry - tension and viscoelasticity

Evaluation of Hoarseness
* History is paramount
* Projection - tired, breathy and low volume
* Quality - ”hoarse”, “gruff”, “raspy”
* Range - high, middle and low
* Physical Exam
* Speaking voice
* Range profile
* Fundamental Frequency – F0
* Maximum Phonation Time
* Standard Reading Passages
* Singing if appropriate – local, regional, bodywide
* Voice Lab – Acoustics and Aerodynamics
* Endoscopic exam –
* mirror, flexible endoscope, rigid endoscope
* Digital archiving essential for documentation
* Studies
* CT scan – evaluation of course of RLN
* EMG – Is there an nerve to muscle problem?
* Double pH probe – What is the severity of Laryngopharyngeal reflux (LPR)?
* Microlaryngoscopy – some lesions missed in the office.
* Studies – the future….
* Aerodynamics and acoustics – Chaos theory and mathematical modeling
* Vocal cord motion – gross arytenoid motion being evaluated endoscopically
* Vocal cord pliability – endoscopic rheometers and vocal fold oscillators
* Ocular Coherence Tomography/Ultrasound

Normal Stroboscopy
Neuromuscular Disorders
Vocal Cord Paralysis
Vocal Cord Paresis
Medialization Thyroplasty
Adduction Arytenopexy
Glottal Incompetence
Medialization Thyroplasty
Cricoarytenoid Joint Dysmobility
Hyperfunction – a.k.a. MTD
Epithelial Diseases
Vocal Cord Papilloma
Vocal Cord Keratosis with Atypia
Vocal Cord Cancer
Subepithelial Diseases
Vocal Cord Nodules
Vocal Cord Polyp
Vocal Fold Cyst
Reinke’s Edema
Vocal Fold Scar
Vocal Cord Sulcus
Vocal Cord Inflammatory Diseases
Arytenoid Granuloma

Current Diagnosis and Treatment of Voice Disorders


Paradoxical Vocal Cord Motion: Evaluation and Treatment

Paradoxical Vocal Cord Motion: Evaluation and Treatment
Presentation by:Starr M. Cookman, M.A., CCC-SLP
Speech Pathologist
Division of Otolaryngology, UCONN

* Episodic Laryngeal Dyskinesia
* Vocal Cord Dysfunction (VCD)
* Munchausen’s Stridor
* Emotional Laryngeal Wheezing
* Pseudo-asthma
* Fictitious Asthma

Definition of PVCM
Essential Features
* Stridor
* Difficulty with inspiratory phase
* Chest and/or throat tightening
* Dysphonia during/following an attack
* Abrupt onset and resolution
* Recalcitrant to medical treatment
* Seems to be related to stress and/or exercise.

Various Etiologies
* Laryngopharyngeal reflux
Vocal Fold Edema
Lx Erythema
Interarytenoid Edema
* Allergic rhinitis
* Conversion disorder
* Respiratory-type laryngeal dystonia
* Drug-induced laryngeal dystonic reactions
* Asthma-associated laryngeal dysfunction
* Brainstem abnormalities
* Chronic laryngeal instability & tension

Patient Profile
Differential Diagnosis
* Mass Obstruction
* Bilateral vocal fold paralysis
* Anaphylactic laryngeal edema
* Extrinsic airway compression
* Foreign body aspiration
* Infectious croup
* Laryngomalacia
* Exercise Induced Asthma/ Asthma

Typical Spirometry Findings for PVCM
* Asymptomatic
* Symptomatic
PVCM Vs. Exercise Induced Asthma
Assessment Protocol
Evaluation Questions
Laryngeal Examination
* Instrumentation
* Observations
Corniculate Collapse
* Apex of arytenoid
* Laryngomalacia
* Perception of airway obstruction
* Treatment: arytenoid reduction surgery and/or behavioral therapy

Normal Larynx
Laryngeal Supraglottic Hyperfunction
PVCM Visualized
Speech Therapy
Speech Therapy: Relaxation
Visual Concept of Disorder
Speech Therapy: Phonatory Retraining
Therapeutic goals and methods
Therapeutic goals and methods
Acute Management
Acute Management of Attacks
Referral Candidacy
Videotaped Examples
Case Study
Laryngeal Observations
Initial Recommendations
Second Evaluation
Laryngeal Findings
Trial Therapy

Paradoxical Vocal Cord Motion:Evaluation and Treatment.ppt


Vocal Cord Visualization

Vocal Cord Visualization
Presentation Team:Erik Joseph Birkeneder, Kevin Ryan Kinney, Eric Jordan Miller, Christopher Carlin Valley
Vocal Cord Visualization

* Procedure
* Problem Statement
* Background
* Current Prototype
* New Design Alternatives
* The Matrix
* Final Design and Future Work

Claude Shannon’s Alias Frequency Principle
Prototype – LED Stroboscope
New Design Alternatives
Design 1 – Foot pedal frequency control
Design 2 – Microprocessor
Design 3 – Microprocessor with LCD Vocal Cord Display
Design Matrix
Manufacturing Simplicity
Doctor Ergonomics
Patient Ergonomics
Frequency Accuracy
Procedure Weight
Portability Weight
m-Processor LCD screen
m-Processor LCD screen absent
Foot Pedal
Current Device
Design Matrix
Future Work
* Microprocessor
* Camera Research
* LCD for Vocal Cord Visualization
* Device Housing

Vocal Cord Visualization.ppt


Exercise Induced Paradoxical Vocal Cord Dysfunction

Exercise Induced Paradoxical Vocal Cord Dysfunction
Presentation lecture by:Dale R. Gregore, M.S., CCC-SLP
Speech Language Pathologist, Clinical Rehabilitation Specialist - Voice

NORMAL Respiration 101
* On inhalation, the vocal cords (folds) ABduct allowing air to flow into the trachea, bronchial tubes, lungs
* On exhalation, the vocal folds may close slightly, however should and do remain ABducted

Normal Larynx
Vocal fold ABDUCTION occurs during respiration
Vocal fold ADDUCTION Occurs during swallowing, coughing, etc…
Strobe exam
Paradoxical Vocal Fold Movement (PVFM)
* The cord function is reversed in that the vocal folds ADDuct on inspiration versus ABduct
* Leads to tightness or spasm in the larynx
* Inspiratory wheeze evident

Definition of EI-VCD
* Vocal Cord Dysfunction (VCD)
* Munchausen’s Stridor
* Emotional Laryngeal Wheezing
* Pseudo-asthma
* Fictitious Asthma
* Episodic Laryngeal Dyskinesia

Patient description of VCD episodes
PVFM Visualized
* Anterior portion of the vocal folds are ADDucted
* Only a small area of opening at the
* Posterior aspect of the vocal folds
* Diamond shaped ‘CHINK’
* May be evident on both inhalation and exhalation

Essential Features
* Vocal fold adduct (close) during respiration instead of abducting (opening)
* Laryngeal instability while patient is asymptomatic
* Episodic respiratory distress


* Stridor
* Difficulty with inspiratory phase
* Throat tightening > bronchial/ chest
* Dysphonia during/following an attack
* Abrupt onset and resolution
* Little or NO response to medical treatment (inhalers, bronchodilators)

Various Etiologies
* Laryngo-Pharyngeal Reflux (LPR)

LPR and Athletes
* Well documented occurrence in weight lifting
* Can be aggravated by bending, pushing/ resisting (tackling, etc…), tight clothing, even drinking water during a game/ meet/ match
* Timing of meals before exercise is important
* Type of foods/ liquids should be monitored

Laryngopharyngeal Reflux: Clinical Signs
Vocal Fold Edema
Lx Erythema
Interarytenoid Edema
Other potential causes of Paradoxical Vocal Cord Dysfunction
* Asthma-associated laryngeal dysfunction
* Brainstem dysfunction
* Chronic laryngeal instability, sensitivity & tension

Athlete Profile for EI-VCD
EI-VCD versus Asthma
Differential Diagnosis of EI-VCD
Differential Diagnosis of VCD
* Team Must Rule Out:
o Mass Obstruction
o Bilateral vocal fold paralysis
o Anaphylactic laryngeal edema
o Extrinsic airway compression
o Foreign body aspiration
o Infectious croup
o Laryngomalacia
o Exercise Induced Asthma/ Asthma

Diagnosis of EI-VCD
EI-VCD and Asthma
EI-PVCD versus
Exercise Induced Asthma
Typical Spirometry Findings for PVCD
* Asymptomatic
* Symptomatic:

Case History Questions
Videostroboscopic Examination
Laryngeal Supraglottic Hyperfunction
VCD appearance on direct examination
Laryngeal Supraglottic Hyperfunction
PVCM Visualized
Diagnostic Features
Acute Management of EI-VCD
Acute Management of EI-VCD
Acute Management of Attacks
Acute Management in the Game
Quick Sniff Technique
Treatment: Speech Therapy
Therapeutic goals and methods
Speech Therapy
Back Pressure Breathing
Relaxation Training
ST Duration: The CCHS Approach
Therapy Focus and Outcome
Case Discussion #2
Therapy Focus and Outcome

Exercise Induced Paradoxical Vocal Cord Dysfunction.ppt


Vocal Cord Paralysis

Vocal Cord Paralysis
Medialization Laryngoplasty
Shashidhar S. Reddy, MD, MPH
Faculty Sponsor: Anna Pou, MD
University of Texas Medical Branch

* Anatomy of the Larynx
* Function of the Larynx
* Causes of Vocal Cord Paralysis
* Evaluation of Vocal Cord Paralysis
* Anterior TVC Medialization
* Posterior TVC Medialization
* Overview of Treatment for Bilateral Vocal Cord Paralysis
* Conclusion (Key Points)

Anatomy of the Larynx - Cartilages
Anatomy of Larynx - Muscles
Anatomy of Larynx - Muscles
Anatomy of Larynx - Nerves
Anatomy of Larynx - Motion
Anatomy of the Larynx - Motion
* Adductors of the Vocal Folds
Anatomy of the Larynx - Motion
* Abductor of Larynx
Anatomy of Larynx - Histology
Function of Larynx

* Passage for Respiration
* Prevents Aspiration
* Allows Phonation
* Allows Stabilization of Thorax

Vocal Cord Paralysis
Etiology, Preoperative Evaluation, Treatment
* Causes of Vocal Cord Paralysis in Adults
Bilateral %
Unilateral %
Evaluation – Patient History
* Alcohol and Tobacco Usage
* Voice Abuse
* URI and Allergic Rhinitis
* Reflux
* Neurologic Disorders
* History of Trauma or Surgery
* Systemic Illness – Rheumatoid
* Duration – Affects Prognosis

Evaluation – Physical Examination
* Complete Head and Neck Examination
* Flexible Fiberoptic Laryngoscopy
* 90 degree Hopkins Rod-lens Telescope
* Adequacy of Airway, Gross Aspiration
* Assess Position of Cords
o Median, Paramedian, Lateral
o Posterior Glottic Gap on Phonation

Evaluation - Videostroboscopy
* Demonstrates subtle mucosal motion abnormalities
* Video-documentation (not available online)

Evaluation - Electromyography
* Assesses integrity of laryngeal nerves
* Differentiates denervation from mechanical obstruction of vocal cord movement
* Electrode in Thyroarytenoid and Cricothyroid

Evaluation - Electromyography
* Normal
* Fibrillation
* Polyphasic

Evaluation - Imaging
* Chest X-ray
* MRI of Brain
* CT Skull Base to Mediastinum
* Direct Laryngoscopy

Evaluation – Unilateral Paralysis
* Preoperative Evaluation
* Manual Compression Test

Evaluation – Unilateral Paralysis
* Assess extent of posterior glottic gap
* Consider consenting patient for both anterior and posterior medialization procedures

Management – Unilateral Paralysis
* Type of Anesthesia
Management – Unilateral Paralysis
Vocal Cord Injection
* Adds fullness to the vocal cord to help it better appose the other side
* Injection technique is similar regardless of material used
* Injection into thyroarytenoid/vocalis
* Injection can be done endoscopically or percutaneiously
* Poor correction of posterior glottic gap

Management – Unilateral Paralysis
Vocal Cord Injection
Vocal Cord Injection
Vocal Cord Injection - Materials
* Teflon
* Fat
* Collagen
* Hyaluronic Acid
* Calcium Hydroxyapatite gel (Radiance FN)
* Polydimethylsiloxane gel (Bioplastique)
* Teflon -
o Advantages
o Disadvantages

Management – Unilateral Paralysis
Vocal Cord Injection
* Fat
* Fat Injection
* Homologous Collagen
* Calcium Hydroxyapatite gel
Management – Unilateral Paralysis
Type I Thyroplasty
* Advantages
* Disadvantages

Type I Thyroplasty – Gore-Tex
* Gore-Tex
Management – Unilateral Paralysis
* Complications
* Controversies
Management – Unilateral Paralysis Results
Arytenoid Adduction
* Arytenoid Adduction
* Endoscopic Approaches
* Suture Placed to Cricoid Cartilage
* Zeitels Modification – Arytenopexy
Management – Unilateral Paralysis
Arytenoid Adduction – Modifications
* Complications
Bilateral Abductor Paralysis
Expiration Inspiration
Conclusions – Key Points
* Anatomy
* Causes of Vocal Cord Paralysis
* Evaluation
* Management – Bilateral Paralysis

Vocal Cord Paralysis


18 May 2009

Joints Presentations

The Elbow and Radioulnar Joints



Upper Extremity Joints


Joints - Articulations

The Wrist and Hand Joints

Dem Bones

Arm, Elbow, Forearm

Upper Extremity Injuries


Elbow, Wrist & Hand presentations

Elbow, Wrist & Hand Evaluation

The Shoulder Girdle
R.T. Floyd, EdD, ATC, CSCS

Muscular Analysis of Upper Extremity Exercises

The Shoulder Joint

Muscular Analysis of Trunk and Lower Extremity Exercises

Foundations of Structural Kinesiology

Source:Eastern Illinois University

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