Research Publications - College of Medicine and Health Science

Department of Paediatrics
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The department’s effort in these endeavors has
included research workshops (on methodology,
biostatistics, bibliography management, etc.)
for hospital colleagues and pediatric residents.
These encounters resulted in many non-faculty
colleagues being co-authors in our publications.
The department has been active at projecting
the research strengths and output of the FMHS.
A.-K. Souid has contributed as an advisor to
the Researcher newsletter and H. Narchi was
instrumental in the conception, design and
in “populating” the FMHS Medical Research
website. Souid also teaches the PhD course on
“molecular mechanism of human disease”.
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genetics) (Y. Abdulrazzaq and l. Al Gazali)
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in the area of birth defect/dysmorphology
and brain malformations including nervous
system dysgenesis. Several disorders have been
studied at the clinical and molecular level. For
example, familial and sporadic forms of cerebral
dysgenesis were studied and a new type
of agyria-pachygyria associated with agenesis
of corpus callosum was characterized, a severe
form of a syndrome of myotonia and bone
dysplasia [Stüve-Wiedemann Syndrome (SWS)]
was identified to be common in the population
of the UAE. Founder mutation in the Leukemia
inhibitory factor receptor (LIFR) was found in all
families affected with SWS in this population. A
birth defect registry for Al Ain Medical District
was established by the department, which has
gained membership of the International Clearing
House for Birth Defects. Several studies from
this register were published identifying the incidence
and pattern of the various types of birth
defects in this population together with establishing
risk factors involved in their etiology.
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the reasons why some anti-epileptic drugs
(vigabatrin, lamotrigine) ingested by women
during pregnancy cause neural tube and other
defects. Departmental researches have already
established that these drugs are teratogenic. It
was established that methionine was 5 times
lower in embryo of treated pregnant mice than
in non-treated controls. Studies are ongoing to
determine the impact of folic acid and vitamin
B12 supplementation on the frequency of occurrence
of anomalies in animal models.
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grains and have been found to be increased in
pregnant women and their offspring. Study is
ongoing to determine teratogenic effects of
aflatoxins in mice.
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recessive genetic disorders using the concept
of homozygosity mapping, particularly disorders
which are common or unique to this
population. For example, a gene for Joubert
syndrome, which seems to be common in
Arabs, was mapped to chromosome 9q34.3 and
genetic heterogeneity was established. Subsequently
other genes for Joubert Syndrome
were mapped and mutations were identified in
families from UAE. Another new type of epiphyseal
dysplasia was described in a family from
UAE and a gene was mapped to chromosome
15q26. Several other disorders are currently being
investigated using the same concept.
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The department is active in establishing the
prevalence of different metabolic disorders in
the UAE population.
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of alcaptonuria in the UAE population.
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Williams)
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have looked at the evaluation of foetal
growth by customized birth weight centiles.
The results have shown a better identification
of outcomes associated with small and large for
gestational age as defined by the customized
centiles. Similar results have also been shown
for macrosomic infants and infants born to
diabetic mothers. The results have important
implications for the screening and monitoring
of infants at risk.
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DISORDERS (Y. Abdulrazzaq)
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micronutrients abnormalities in pregnancy and
the effect on the fetus/newborn. The preliminary
results suggest that micronutrient deficiency
is common in pregnancy and outcome
studies are in progress.
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