Results 91 to 100 of about 628,056 (305)

First‐choice hormonal therapies for children with infantile epileptic spasms syndrome in South Asia: A network meta‐analysis of randomized controlled trials

Epilepsia Open
Considering the peculiar challenges with infantile epileptic spasms syndrome (IESS) in South Asia and a wide variation in the usage of hormonal therapies, we compared the efficacy and safety of various hormonal therapies for children with IESS in South ...
Nagita Devi, Priyanka Madaan, Nidhun Kandoth, Parth Lal, Jitendra Kumar Sahu, Dipika Bansal   +5 more
doaj   +1 more source

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 more
wiley   +1 more source

Spartan Daily, December 7, 2017 [PDF]

, 2017
Volume 149, Issue 44https://scholarworks.sjsu.edu/spartan_daily_2017/1085/thumbnail ...
San Jose State University, School of Journalism and Mass Communications
core   +1 more source

Incidence and Prevalence of Congenital Myopathies ‐ A Population‐Based Study From Western Sweden

Annals of Neurology, EarlyView.
Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Eva Michael, Carola Hedberg‐Oldfors, Mar Tulinius, Sara Nordström, Anders Oldfors, Niklas Darin   +5 more
wiley   +1 more source

Epileptic Syndromes With Possible Immunological Mechanisms (Rasmussen Encephalitis, FIRES, West Syndrome, Landau-Kleffner Syndrome)

Archives of Epilepsy, 2016
Some of childhood epileptic syndromes reminds immunological etiologies with their good response to immuno-therapy and histopathological findings. These syndromes, such as Rasmussen encephalitis, FIRES, West syndrome, and Landau-Kleffner syndrome each of ...
Demet KINAY, Pınar TEKTÜRK
doaj   +1 more source

West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother

Frontiers in Pediatrics, 2019
Infantile vitamin B12 deficiency, a rare nutritional disorder in developed countries, is characterized by megaloblastic anemia and non-specific symptoms, including failure to thrive, hypotonia, and seizure.
Pin Fee Chong, Masaru Matsukura, Kaoru Fukui, Yoriko Watanabe, Yoriko Watanabe, Naomichi Matsumoto, Ryutaro Kira   +6 more
doaj   +1 more source

Parathyroid localization [PDF]

, 1986
Twenty-nine consecutive patients with suspected primary hyperparathyroidism were examined preoperatively using ultrasound, sonographically guided fine needle aspiration, and aspirate immunostaining for PTH.
Borisch, B., Gutekunst, R., Hafermann, W., Kiffner, E., Löhrs, U., Scriba, Peter Christian, Thies, E., Valesky, A.   +7 more
core   +1 more source

Expert Perspective: Diagnosis and Treatment of Castleman Disease

Arthritis &Rheumatology, EarlyView.
Castleman disease (CD) is a major diagnostic challenge for rheumatologists. Unicentric CD (UCD) involves one enlarged lymph node region, whereas multicentric CD (MCD) involves multiple enlarged lymph node regions. Both UCD and MCD may exhibit a wide range of symptoms that overlap with other immune‐mediated conditions.
Luke Y. C. Chen, Lu Zhang, David C. Fajgenbaum   +2 more
wiley   +1 more source

Epileptic spasms relapse is associated with response latency but not conventional attributes of post‐treatment EEG

Epilepsia Open
Objective Relapse of epileptic spasms after initial treatment of infantile epileptic spasms syndrome (IESS) is common. However, past studies of small cohorts have inconsistently linked relapse risk to etiology, treatment modality, and EEG features upon ...
Emmi Deckard, Rujuta Sathe, David Tabibzadeh, Aria Terango, Aran Groves, Rajsekar R. Rajaraman, Hiroki Nariai, Shaun A. Hussain   +7 more
doaj   +1 more source

Low-Dose ACTH Therapy for Infantile Spasms

Pediatric Neurology Briefs, 1999
The lowest effective ACTH dose, with fewest adverse effects, for the treatment of West syndrome (WS) was determined in a comparative, randomly assigned, controlled study involving 25 patients with cryptogenic (CWS, n=9) or symptomatic (SWS, n=16) WS, at ...
J Gordon Millichap
doaj   +1 more source