Gillespie syndrome: An atypical form and review of the literature
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Medicine and Surgery"
DOI: 10.1016/j.amsu.2022.103244
Abstract: Introduction Gillespie syndrome (GS) is a rare genetic disorder that combines ocular and cerebral defects. It was first described in 1965, by Frederick D. Gillespie. He reported a triad of congenital aniridia, cerebellar ataxia and… read more here.
Keywords: gillespie; aniridia; form review; atypical form ... See more keywords
Wooden Chest syndrome: The atypical pharmacology of fentanyl overdose.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of clinical pharmacy and therapeutics"
DOI: 10.1111/jcpt.13484
Abstract: WHAT IS KNOWN AND OBJECTIVE A large percentage of opioid overdose fatalities involve fentanyl or one of its legal or illegal analogs (F/FAs). Is there something about the pharmacology of these drugs that make them… read more here.
Keywords: syndrome atypical; pharmacology fentanyl; pharmacology; atypical pharmacology ... See more keywords
Methylmalonic Acidemia Masquerading as Rett Syndrome: An Atypical “Neurodegenerative” Variant?
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DOI: 10.1177/02537176231159916
Abstract: The patient showed rapid improvement in her activities of daily living and communication. She regained the ability to feed independently and, following physiotherapy, could walk with aid. She maintained well for two months. However, after… read more here.
Keywords: rett syndrome; syndrome atypical; methylmalonic acidemia; acidemia ... See more keywords
Posterior Reversible Encephalopathy Syndrome: An Atypical Presentation of Takayasu Arteritis
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_1007_21
Abstract: Annals of Indian Academy of Neurology ¦ Volume 25 ¦ Issue 4 ¦ July-August 2022 727 8. Blondin DP, Haman F. Shivering and nonshivering thermogenesis in skeletal muscles. Handb Clin Neurol 2018;156:153‐73. 9. Rolfe DF,… read more here.
Keywords: atypical presentation; neurology; reversible encephalopathy; syndrome atypical ... See more keywords