28 April 2009

Swine Flu



Swine Flu presentation by Dr. T.V. Rao


Uploaded on authorSTREAM by doctorrao

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Achondroplasia



Achondroplasia
Presentation from:Juniata College


Normal Growth
Short stature
Normal or variant short stature
Pathologic short stature
Normal or variant short stature
Genetic short stature
Constitutional delay: (i.e. “late bloomer”) keep growing when others stop
Disproportionate short stature: ex: skeletal dysplasia
Metabolic bone disease
“Dwarf”
Proportionate short stature: ex: endocrine problems, Down Syndrome
“Midget”
Disproportionate short stature: diagnosis
* Upper/lower ratio (head to hip socket is upper)
o ~1.7 at birth
o ~0.95 caucasian adult/~0.85 Af. Am. Adult
* Span (fingertip to fingertip)
o Equals height up to adolescence
o After, up to 5 cm>height
* X-rays are diagnostic for skeletal dysplasias

For general characterization

* Compare
o Chronological age
o Height age (height of a person at the 50th percentile for their age)
o Bone age (ossification assessed by X-ray)
* If:
o BA=CA, genetic short stature
o BA=HA, constitutional delay
o BA HA, pathologic short stature

Achondroplasia
Hypochondroplasia
Thanatophoric dysplasia
Other causes of short stature

* X-linked hypophosphotemic rickets
o X-linked dominant (males more severely affected)(disproportionate)
* Turner Syndrome (45,X) (proportionate)
* Laron Dwarfism
o Insensitivity to growth hormone (receptor defect)/AR/proportionate S.S./squeaky voice
* Malnutrition
* Chronic disease
* Other endocrine problems

Achondroplasia.ppt

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Detecting the Future: Human Diseases and Genetic Tests



What is genetic testing?
Draw for book report dates
Find a current article about genetic testing

How does genetic testing affect us?
Discuss articles (2 min presentation each)
Choose books (email Dr. Liljegren your choice)

How are diseases inherited?
“Deadly Inheritance” Documentary

Genetic Testing: Cystic Fibrosis

Introduction to Group Research Projects
Draw for group presentation dates
Choose disorder/disease
(see Group Projects, sample ppt)

Cytogenetic Testing: Down's syndrome

Guest Expert: Betsy Swope, MS, CGC
"What are the roles of a genetic counselor?"

Biochemical Testing: Phenylketonuria

Guest Expert: Dr. Shu Chaing, Director
North Carolina Newborn Screening Program

Group Presentations
(30 min presentation / group + discussion)
Neurofibromatosis
Breast cancer

Group Presentations
Osteogenesis imperfecta
Marfan syndrome

Group Presentations
Hearing loss
Huntington's disease

Review for Final Exam
(see sample of exam style)

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