MEDI 510 IBS 518

1
MEDI 510 (IBS 518)

July 24
-
August 7, 2006



Human Embryology Development and Disease

Charles Saxe, Ph.D., Course Director



Text Moore, K.W., The Developing Human, W.B.
Saunders Co., 7th ed., 2003


Place
Week 1
lectures and clinical cor
relations will be in Whitehead Auditorium




Week 2
lectures and clinical correlations will be in
the WHSCAB Auditorium




Exams
all exams will be in the WHSCAB Auditorium




Day


Date


Time


Event


Speaker



Title



Mon

7/24

900a

Lect 1

Dr. Saxe

Basic mechanisms of differentiation




1100

Lect 2

Dr. Saxe

Morphogenesis and cell interactions




1145p

Corr


K. Torrente

Intro to information retrieval at











Emory



Tues

7/25

900

Lect 3

Dr. Saxe

Principles
of teratogenesis




1100

Lect 4

Dr. Saxe

Gametogenesis and fertilization




100p

Clin Corr

Dr. Mitchell Advances in
in vitro
fertilization



Wed

7/26

900

Clin Corr

Ms Kinlaw

Neonatal ethics



1030

Lect 5

Dr. Saxe


Extra
-
embryoni
c membranes placenta



100p

Lect 6

Dr. Saxe

Urogenital system I. Gonads



Thur

7/27

900

Lect 7

Dr. Saxe


Urogenital system II. Renal development




1100

Clin Corr

Dr. Smith

Anomalies of the urinary tracts



Fri

7/28

900

Lect 8

Dr.
Moberg

Ectoderm
-
neurulation CNS formation





1045

Clin Corr

Dr. Sladky

Congenital Neural defects










Mon 7/31

900

MIDTERM

(1 hr)



Tues

8/1

900

Lect
9

Dr. Saxe

Cardiovasc I. Heart,CV system









Septation





1030 Lect 10 Dr. Saxe

Cardiovasc II. Congenital heart defects




1130

Clin Corr

Dr.Sutherland Common congenital heart defects



Wed

8/2

900

Lect 11 Dr. Sax
e

Mesoderm I. limb and muscle mitotic










mechanisms




1030

Lect 12

Dr. Saxe

Mesoderm II. Limb and skeletal









formation





100p

Clin Corr

Dr. Weil

Congenital limb anomalies




Thur

8/3

900

Lect 13

Dr. Saxe

Endoderm I. Respiratory system




1030

Lect 14

Dr. Saxe

Endoderm II. Gut, Liver, Pancreas




100p

Clin Corr

Drs Nasr and Anomalies of the gut









Williams

Fri

8/4

900

Lect 15 Dr. Saxe

Cancer Developmental mecha
nisms








in oncogenesis













Mon

8/7

900

FINAL EXAM
(2 hr)
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Congenital anomalies can present in many ways
Liu Junjie, a 3-month-old baby boy who was born
with three arms, is shown in a Shanghai, China,
hospital. On Monday, June 5, surgeons removed the
lower left arm.
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5
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Piebaldism results from mutation in the kit gene
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Thalidomide is a textbook example of a teratogen
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Before the advent of the thalidomide tragedy, it
had often been assumed that the maternal
biosystems of hepatic detoxification and
metabolism, together with the placental barrier,
acted as a shield and were a natural protection
for the embryo from any maternal exposure to
drugs. As subsequent findings of congenital
malformations in humans exposed to various agents
became apparent, e.g., Rubella (Gregg, 1941),
nitrogen mustard (Haskin, 1948), androgenic
hormones (Wilkins and Baltimore, 1960), the folic
acid antagonist, aminopterin (Thiersch and
Philips, 1950 Warkany et al., 1960), and
methylmercury (Tackeuchi et al., 1959 Eto and
Takeuchi, 1978 Takeuchi et al., 1996), so did
the realization of the susceptibility of the
developing embryo. However, it was not until
after the "thalidomide disaster," when a direct
relationship was identified between increased
incidence of phocomelia (failure of the
development of limbs) and exposure to thalidomide
during pregnancy (McBride, 1961 Lenz, 1961),
that regulatory agencies began to recognize the
importance of including teratogenicity testing
(Goldenthal, 1966 FDA, 1966 WHO, 1967 HWC,
1975). In fact, prior to 1960, testing of
chemicals during the reproductive cycle included
the only recommended protocol at the time and
that was the 6-wk toxicity test in male and
female rodents (Anderson, 1993). Assessments and
evaluation were performed over two pregnancies
and fetal survival noted (Anderson, 1993).
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GENOMIC (GERMLINE) IMPRINTING Refers to the
differential expression of genetic material, at
either the chromosomal or allelic level,
depending on whether the genetic material has
come from the male or female. May result from
errors in DNA methylation. Examples of Evidence
of Genomic Imprinting 1. expression in
transgenic mice 2. pronuclear transplants in
mice - human homologs of these a.
hydatidiform moles placental tissue with no
apparent embryo - only paternal-derived
material present b. teratomas embryonic
tissue with no apparent placenta - only
maternal-derived material present 3. Chromosome
deficiencies in mice and humans - human
example deletion of part of 15q11-13 a. if
maternal material is deleted Angelman
Syndrome b. if paternal material is
deleted Prader-Willi Syndrome 4. Specific
gene expression in mice and humans (gt 30 known
genes that show imprinting in humans) - human
examples early onset myotonic dystrophy and
early onset Huntingtons chorea
Beckwith-Wiedemann syndrome (probably IGF-2 gene)
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Angelman Syndrome
- ataxia (uncoordinated muscle movements) -
seizures/ severe mental retardation - hyperactive
small and thin - lack of speech - puppet face
children/inappropriate laughter
13
Prader-Willi Syndrome
- mild mental retardation and motor development -
severe hypotonia (loss of muscle tone) - short
stature and obesity
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