alexa Genomic Medicine Empowers Personalized Patient Care-an Example Of Effective Albuterol Treatment For A Patient With Homozygous DOK7 Mutation
ISSN: 2165-7920

Journal of Clinical Case Reports
Open Access

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Share This Page

Additional Info

Loading
Loading Please wait..
 

5th European Conference on Clinical and Medical Case Reports
September 07-08, 2017 Paris, France

Milen Velinov
NYS Institute for Basic Research in Developmental Disabilities, USA
Keynote: J Clin Case Rep
DOI: 10.4172/2165-7920-C1-010
Abstract
A 15 years old female patient was referred for genetic evaluation because of dysarthria and muscle hypotonic. Her early motor development was delayed. She did not start walking until 2.5 years. Reportedly her early speech development was not delayed. However at her first visit with us she was noted to have dysarthria. She was also reported to have academic difficulties, possibly associated with her dysarthria. This patient had prominent muscle weakness. She had great difficulty getting upright from squatting position. She could not run and sometimes had impaired balance. The patient’s parents were first cousins. Screening laboratory tests and molecular testing for Friedreich ataxia were normal. Whole exome sequencing was done because no specific etiology was apparent. The patient tested positive for homozygous pathogenic sequence change in gene DOK7 (c.1124_1127dupTGCC). Homozygous mutations in this gene were previously associated with congenital myastenic syndrome type 10 (CMS10). Previously reported Albuterol treatment in 15 patients with DOK7 mutations led to improvement in these patients’ muscle strength. Treatment of our patient was initiated with 4 mg P.O. Albuterol daily. She initially developed borderline increase in her blood pressure and the Albuterol dose was decreased to 2mg alternated with 4 mg daily. At this regimen no adverse effects were observed. Monthly fatigue tests examining the muscle strength were conducted and a significant improvement of muscle strength of hands, abdominal muscles and legs was recorded. In addition the patient’s parents reported improvement in her speech. The patient continues to receive Albuterol treatment. Personalized medicine is a relatively new developing medical approach that already has wide application in cancer care and clinical genetics. This new field was greatly empowered by the development of technologies for massive nucleic acid sequencing. Identifying specific somatic or constitutive mutations helps the physicians develop patient-specific treatment plans that demonstrate better efficiency.
Biography

Milen Velinov is an Associate Professor at Albert Einstein College of Medicine and Director of the Genetic Service at Bronx-Lebanon Hospital. He is also the Program Director of Comprehensive Genetic Services and Specialty Clinical Laboratories at The New York State Institute for Basic Research in Developmental Disabilities. His research interests include Neuronal Ceroid Lipofuscinoses as well as rare/unique clinical manifestations and diagnoses in clinical genetics

image PDF   |   image HTML
 

Relevant Topics

Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

Agri & Aquaculture Journals

Dr. Krish

[email protected]

1-702-714-7001Extn: 9040

Biochemistry Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Business & Management Journals

Ronald

[email protected]

1-702-714-7001Extn: 9042

Chemistry Journals

Gabriel Shaw

[email protected]

1-702-714-7001Extn: 9040

Clinical Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Engineering Journals

James Franklin

[email protected]

1-702-714-7001Extn: 9042

Food & Nutrition Journals

Katie Wilson

[email protected]

1-702-714-7001Extn: 9042

General Science

Andrea Jason

[email protected]

1-702-714-7001Extn: 9043

Genetics & Molecular Biology Journals

Anna Melissa

[email protected]

1-702-714-7001Extn: 9006

Immunology & Microbiology Journals

David Gorantl

[email protected]

1-702-714-7001Extn: 9014

Materials Science Journals

Rachle Green

[email protected]

1-702-714-7001Extn: 9039

Nursing & Health Care Journals

Stephanie Skinner

[email protected]

1-702-714-7001Extn: 9039

Medical Journals

Nimmi Anna

[email protected]

1-702-714-7001Extn: 9038

Neuroscience & Psychology Journals

Nathan T

[email protected]

1-702-714-7001Extn: 9041

Pharmaceutical Sciences Journals

Ann Jose

[email protected]

1-702-714-7001Extn: 9007

Social & Political Science Journals

Steve Harry

[email protected]

1-702-714-7001Extn: 9042

 
© 2008- 2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
adwords