Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Elizabeth Sekul"'
Autor:
Kathryn Elkins, Angela Wittenauer, Arthur F. Hagar, Rachel Logan, Elizabeth Sekul, Yijin Xiang, Sumit Verma, William R. Wilcox
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 190:187-196
The purpose of this study is to provide the results of the newborn screening (NBS) program for Spinal Muscular Atrophy (SMA) in the state of Georgia to determine disease incidence, time to diagnosis and treatment, and early outcomes. NBS for SMA was
Autor:
John R. Vender, Elizabeth Sekul, Hadyn T. Williams, Samuel D. Macomson, June Yowtak, Pamela Salazar, Kelsie Cato
Publikováno v:
PM&R. 5:32-38
Background Intrathecal drug-delivery systems have become widely used tools in the management of refractory chronic pain and spasticity. Because increasing numbers of patients are using these systems, rehabilitation specialists frequently are the init
Publikováno v:
American Journal of Medical Genetics. :77-80
We report on a child with a family history of autoimmune defects, who presented at the age of 3(1/2) years with alopecia and Graves disease. He subsequently developed vitiligo and psoriasis. At 9(1/2) years, he developed an autoimmune form of Lambert
Publikováno v:
Journal of Pediatric Hematology/Oncology. 24:585-588
Stroke is the most common neurologic complication of sickle cell disease. Acute chest syndrome (ACS) is a known risk factor for stroke in this population. Two patients (a 12-year-old boy and a 6-year-old girl) developed acute change of mental status
Autor:
Zachary Simmons, Joseph V. Campellone, Devon I. Rubin, David J. Goodenough, Richard I. Malamut, Gloria Galloway, Vern C. Juel, Michael Chang, Andrea J. Boon, Neil A. Busis, Vincent Tranchitella, Gregory Mulford, Michael T. Andary, Kyle Ruffing, Elizabeth Sekul, Benn E. Smith
Publikováno v:
Musclenerve. 31(3)
It is the position of the AANEM that, based on the literature, there are no contraindications to needle electromyography (EMG) in patients with lymphedema or prosthetic joints. In patients with lymphedema, clinical judgment in each individual circums
Chronic meningitis is defined as cerebrospinal fluid (CSF) pleocytosis for more than 4 weeks in association with clinical signs of meningitis such as headache, fever, and neck stiffness. Recurrent meningitis implies cellular clearing from the CSF bet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ff6ec2a6ce72e49d107b847ca6baec2f
https://doi.org/10.1016/b0-44-306557-8/50080-0
https://doi.org/10.1016/b0-44-306557-8/50080-0
Publikováno v:
Journal of child neurology. 15(12)
We report a pedigree with severe X-linked neuropathy that occurs in male infants and results in death, typically by 2 years of age. The proband of our report was weak with preserved mentation. He underwent extensive evaluation, which revealed abnorma
Publikováno v:
Journal of diabetes and its complications. 13(4)
Cerebral vascular accidents are one of the causes of morbidity and mortality in children with diabetic ketoacidosis. We investigated the possible occurrence of asymptomatic cerebrovascular infarcts and the course of subclinical brain edema in six pat
Autor:
Elizabeth Sekul, Robert J. Adams
Publikováno v:
Primer on Cerebrovascular Diseases ISBN: 9780127431703
Publisher Summary This chapter describes various aspects of strokes and sickle cell disease. Homozygous sickle cell disease (SCD) is a powerful risk factor for stroke. It is observed that as many as 17% of patients with sickle cell disease manifest s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8122bc3a797994ef112e47e065acfb33
https://doi.org/10.1016/b978-012743170-3.50112-6
https://doi.org/10.1016/b978-012743170-3.50112-6
Autor:
Elizabeth Sekul, David B. Flannery, Suzanne Margaret Strickland, Ramon Figueroa, Adeline Vanderver
Publikováno v:
Neurology. 78:P02.172-P02.172
Objective: To report a child with clinically episodic leukoencephalopathy due to two novel mutations in mitochondrial Complex I NDUFV1 gene, who responded to mitochondrial support. Background Rare cases of NDUFV1 mutations have been reported in patie