scholarly journals Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature

2018 ◽  
Vol 19 (2) ◽  
pp. 345
Author(s):  
Catia Cavicchi ◽  
Chiara Chilleri ◽  
Antonella Fioravanti ◽  
Lorenzo Ferri ◽  
Francesco Ripandelli ◽  
...  
Author(s):  
Jeny Jacob ◽  
Rajesh Venkataram ◽  
Nandakishore Baikunje ◽  
Rashmi Soori

AbstractNarcolepsy, a sleep disorder, has its onset in childhood and early adulthood but rarely in older adults. This case report focuses on a man in his late fifties who was noticed to have excessive daytime sleepiness during his stay in our hospital for an unrelated medical ailment. He was further evaluated with overnight polysomnography and next day multiple sleep latency test which confirmed the diagnosis of narcolepsy.


2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
Huilin Niu ◽  
F. W. Wang ◽  
Paul J. Zhang ◽  
Zhanyong Bing

Cardiac PEComa is very rare. We reported two cases of epithelioid PEComas, one in an adult and one in a 2-year-old child. Both tumors were composed of sheets of epithelioid cells with coagulation necrosis. In addition, the adult case showed marked nuclear atypia and high mitotic activity with atypical mitosis and the pediatric case showed unusual clear cell features. Immunohistochemically, both tumors were positive for HMB-45 and SMA and negative for S100 and cytokeratin. Electron microscopy was performed in the pediatric case and showed premelanosomes. The adult patient developed extensive metastasis indicating malignant behavior. Prior to the two cases, only 5 other cases of cardiac PEComa were reported and the literatures are reviewed.


2018 ◽  
Vol 2018 ◽  
pp. 1-12 ◽  
Author(s):  
Nelson Lau ◽  
Alex Norman ◽  
Mary Jane Smith ◽  
Atanu Sarkar ◽  
Zhiwei Gao

Introduction. Traffic related air pollution (TRAP) has long been associated with the onset of childhood asthma. The relationship between TRAP exposure and the development of childhood asthma phenotypes is less understood. To better understand this relationship, we performed a systematic review of the literature studying childhood TRAP exposure and the development of childhood asthma and wheezing phenotypes (transient, persistent, and late-onset asthma/wheezing phenotypes). Methods. A literature search was performed in PubMed, Embase, and Scopus databases for current literature, returning 1706 unique articles. After screening and selection, 7 articles were included in the final review. Due to the low number of articles, no meta-analysis was performed. Results. TRAP exposure appears to be associated with both transient and persistent asthma/wheezing phenotypes. However, there was little evidence to suggest a relationship between TRAP exposure and late-onset asthma/wheezing. The differing results may be in part due to the heterogeneity in study methods and asthma/wheezing phenotype definitions, in addition to other factors such as genetics. Conclusion. TRAP exposure may be associated with transient and persistent asthma/wheezing phenotypes in children. The low number of studies and differing results suggest that further studies are warranted.


2020 ◽  
Vol 49 (10) ◽  
pp. 1245-1253 ◽  
Author(s):  
J. Bouaoud ◽  
M. Olivetto ◽  
S. Testelin ◽  
S. Dakpe ◽  
J. Bettoni ◽  
...  

Neurosurgery ◽  
1989 ◽  
Vol 25 (4) ◽  
pp. 652-655 ◽  
Author(s):  
Bernadette Diekmann-Guiroy ◽  
Peter S. Huang

Abstract Intracranial tumors associated with Klippel-Feil syndrome usually occur in children, with spinal tumors being more common in adults affected by the syndrome. A rare case of a dermoid cyst at the craniocervical junction presenting as aseptic meningitis in an adult with Klippel-Feil syndrome is described. A review of the literature on tumors associated with this syndrome is also presented.


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