Matches in SemOpenAlex for { <https://semopenalex.org/work/W4378232147> ?p ?o ?g. }
Showing items 1 to 82 of
82
with 100 items per page.
- W4378232147 abstract "Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease that can affect the nervous and other systems of the body. Its clinical manifestations are complex and easily misdiagnosed. Adult-onset NIID beginning with autonomic symptoms such as recurrent hypotension, profuse sweating, and syncope has not been reported.An 81-year-old male was admitted to the hospital in June 2018 due to repeated episodes of hypotension, profuse sweating, pale complexion, and syncope for 3 years, and progressive dementia for 2 years. DWI was not possible due to the presence of metal residues in the body. Cutaneous histopathology revealed sweat gland cell nuclear inclusions and immunohistochemistry showed p62 nuclear immunoreactivity. Blood RP-PCR identified an abnormal GGC repeat expansion in the 5'UTR of the NOTCH2NLC gene. Accordingly, this case was diagnosed as adult-onset NIID in August 2018. The patient subsequently received vitamin C nutritional support, rehydration, and other vital signs maintenance treatments during hospitalization, but the above symptoms still recurred after discharge. With the development of the disease, lower extremity weakness, slow movement, dementia, repeated constipation, and vomiting appeared successively. In April 2019, he was hospitalized again for severe pneumonia, and died of multiple organ failure in June 2019.The presented case exemplifies great clinical heterogeneity of NIID. Some patients may have neurological symptoms and other systemic symptoms simultaneously. This patient started with autonomic symptoms, including recurrent episodes of hypotension, profuse sweating, pallor, and syncope, which progressed rapidly. This case report provides new information for the diagnosis of NIID." @default.
- W4378232147 created "2023-05-26" @default.
- W4378232147 creator A5048146435 @default.
- W4378232147 creator A5063794764 @default.
- W4378232147 creator A5064430666 @default.
- W4378232147 creator A5075887716 @default.
- W4378232147 creator A5088040898 @default.
- W4378232147 date "2023-05-25" @default.
- W4378232147 modified "2023-09-28" @default.
- W4378232147 title "Rapidly progressive adult-onset neuronal intranuclear inclusion disease beginning with autonomic symptoms: a case report" @default.
- W4378232147 cites W1260610551 @default.
- W4378232147 cites W1976120013 @default.
- W4378232147 cites W2006555634 @default.
- W4378232147 cites W2065240296 @default.
- W4378232147 cites W2186226783 @default.
- W4378232147 cites W2485822117 @default.
- W4378232147 cites W2537451930 @default.
- W4378232147 cites W2883679535 @default.
- W4378232147 cites W2887010500 @default.
- W4378232147 cites W2913962285 @default.
- W4378232147 cites W2947008277 @default.
- W4378232147 cites W2954692529 @default.
- W4378232147 cites W2963665804 @default.
- W4378232147 cites W2989602163 @default.
- W4378232147 cites W3087450488 @default.
- W4378232147 cites W4321004132 @default.
- W4378232147 cites W2961696992 @default.
- W4378232147 doi "https://doi.org/10.3389/fneur.2023.1190981" @default.
- W4378232147 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37305750" @default.
- W4378232147 hasPublicationYear "2023" @default.
- W4378232147 type Work @default.
- W4378232147 citedByCount "0" @default.
- W4378232147 crossrefType "journal-article" @default.
- W4378232147 hasAuthorship W4378232147A5048146435 @default.
- W4378232147 hasAuthorship W4378232147A5063794764 @default.
- W4378232147 hasAuthorship W4378232147A5064430666 @default.
- W4378232147 hasAuthorship W4378232147A5075887716 @default.
- W4378232147 hasAuthorship W4378232147A5088040898 @default.
- W4378232147 hasBestOaLocation W43782321471 @default.
- W4378232147 hasConcept C126322002 @default.
- W4378232147 hasConcept C142724271 @default.
- W4378232147 hasConcept C187212893 @default.
- W4378232147 hasConcept C2776890885 @default.
- W4378232147 hasConcept C2778124894 @default.
- W4378232147 hasConcept C2779134260 @default.
- W4378232147 hasConcept C2779483572 @default.
- W4378232147 hasConcept C2781177144 @default.
- W4378232147 hasConcept C42219234 @default.
- W4378232147 hasConcept C71924100 @default.
- W4378232147 hasConcept C73787029 @default.
- W4378232147 hasConcept C84393581 @default.
- W4378232147 hasConceptScore W4378232147C126322002 @default.
- W4378232147 hasConceptScore W4378232147C142724271 @default.
- W4378232147 hasConceptScore W4378232147C187212893 @default.
- W4378232147 hasConceptScore W4378232147C2776890885 @default.
- W4378232147 hasConceptScore W4378232147C2778124894 @default.
- W4378232147 hasConceptScore W4378232147C2779134260 @default.
- W4378232147 hasConceptScore W4378232147C2779483572 @default.
- W4378232147 hasConceptScore W4378232147C2781177144 @default.
- W4378232147 hasConceptScore W4378232147C42219234 @default.
- W4378232147 hasConceptScore W4378232147C71924100 @default.
- W4378232147 hasConceptScore W4378232147C73787029 @default.
- W4378232147 hasConceptScore W4378232147C84393581 @default.
- W4378232147 hasLocation W43782321471 @default.
- W4378232147 hasLocation W43782321472 @default.
- W4378232147 hasLocation W43782321473 @default.
- W4378232147 hasOpenAccess W4378232147 @default.
- W4378232147 hasPrimaryLocation W43782321471 @default.
- W4378232147 hasRelatedWork W1983090660 @default.
- W4378232147 hasRelatedWork W2051392982 @default.
- W4378232147 hasRelatedWork W2056473993 @default.
- W4378232147 hasRelatedWork W2324057219 @default.
- W4378232147 hasRelatedWork W313460363 @default.
- W4378232147 hasRelatedWork W4236243970 @default.
- W4378232147 hasRelatedWork W4249661632 @default.
- W4378232147 hasRelatedWork W4255249625 @default.
- W4378232147 hasRelatedWork W4313387158 @default.
- W4378232147 hasRelatedWork W4378232147 @default.
- W4378232147 hasVolume "14" @default.
- W4378232147 isParatext "false" @default.
- W4378232147 isRetracted "false" @default.
- W4378232147 workType "article" @default.