Munira Ali Aden
Sidra Medicine, Qatar
Scientific Tracks Abstracts: J Nurs Care
This proposal is looking
to build patientâ??s clinical
registry for patients with
tuberous sclerosis (TSC) and
addressing the epidemiology
of tuberous sclerosis in Qatar.
TSC is a rare genetic disorder
affecting multiple organ
systems by the growth of nonmalignant
hematomas in brain,
kidney, heart, liver, lungs or
skin. TCS mainly results from
mutations in either the TSC1
gene or TSC2 gene, which
code proteins (Hamartin and
Tuberin, respectively). The role
of proteins is to regulate cell
proliferation and differentiation.
Losing the regulation will lead
to abnormal development
and generations of cells. TSC
patients presented with diverse
clinical phenotypes such as
seizures, cognitive disabilities,
behavioral issues, skin and eye
abnormalities, kidney, heart and
lungs problems. In addition, the
severity and complications of TSC
have a wide spectrum that varies
between patients, depending
on the tumorâ??s location and
its size. Some patients may
develop minimal effects such
as skin changes and others may
develop profound symptoms
such as mental retardation.
Patient management starts at
birth and continued all through
his life. Multidisciplinary team
care is needed that include
genetics, neurology, cardiology,
oncology, neurosurgery;
radiology, psychiatry; pediatric,
nephrology and pulmonary. The
clinical protocols for TSC are
developed to treat and prevent
disease complication according
to patient age and clinical
phenotypes.
Problem: In the Gulf region,
specifically, in Qatar, there is
a gap of knowledge about the
epidemiology of TSC among
the population. There is no
existing study looked at the
disease features, severity and
management of TSC among
patients in Qatar.
Objectives: The main objectives
of this project are, to fill up
the gap of knowledge of TSC,
to establish clinical patients
registry, develop specialize
clinic for TSC patients involving
multidisciplinary teams and to
establish stander protocols in
the country. Hence, study the
epidemiology of TSC in Qatar,
improve the quality of life for
patients and their families,
improve the outcome and to
obtain further research in the
future.
Materials and Method: Data
will be collected from medical
records at Hamad Medical
Corporation and Sidra medical
clinical sites.
Munira Ali Aden has completed Bachelor degree in Nursing from University of Calgary in Qatar and pursing her master degree in Genomics and Precision medicine at Hamad Bin Khalifa University- Qatar. Currently, Munira is working as a clinical nurse in neurology department at Sidra Medicine. Munira has created iCommunicate which uses cards with Arabic and English words written on them to help patients communicate across language barriers. Her Project was one of the winners in The World Innovation Summit for Health (WISH) and chosen to participate in WISH 2018 as part of Young Innovators Program.
E-mail: maden@sidra.org
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