A novel HSPB1 mutation associated with a late onset CMT2 phenotype: Case presentation and systematic review of the literature

2020 ◽  
Vol 25 (3) ◽  
pp. 223-229
Author(s):  
Arens Taga ◽  
David R. Cornblath
Keyword(s):  
Systematic Review ◽  
Late Onset ◽  
Review Of The Literature ◽  
Case Presentation

scholarly journals Association between Traffic Related Air Pollution and the Development of Asthma Phenotypes in Children: A Systematic Review

2018 ◽  
Vol 2018 ◽  
pp. 1-12 ◽  
Author(s):  
Nelson Lau ◽  
Alex Norman ◽  
Mary Jane Smith ◽  
Atanu Sarkar ◽  
Zhiwei Gao
Keyword(s):  
Systematic Review ◽  
Air Pollution ◽  
Childhood Asthma ◽  
Literature Search ◽  
Late Onset ◽  
Meta Analysis ◽  
Persistent Asthma ◽  
Review Of The Literature ◽  
Asthma Phenotypes ◽  
The Relationship

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.

Induction of Fear by Intraoperative Stimulation During Awake Craniotomy: Case Presentation and Systematic Review of the Literature

2015 ◽  
Vol 84 (2) ◽  
pp. 470-474 ◽  
Author(s):  
Andreas Nowacki ◽  
Kathleen Seidel ◽  
Philippe Schucht ◽  
Kaspar Schindler ◽  
Eugenio Abela ◽  
...  
Keyword(s):  
Systematic Review ◽  
Awake Craniotomy ◽  
Review Of The Literature ◽  
Case Presentation

Autopsy findings in late-onset Pompe disease: A case report and systematic review of the literature

2012 ◽  
Vol 106 (4) ◽  
pp. 462-469 ◽  
Author(s):  
Lisa D. Hobson-Webb ◽  
Alan D. Proia ◽  
Beth L. Thurberg ◽  
Suhrad Banugaria ◽  
Sean N. Prater ◽  
...  
Keyword(s):  
Systematic Review ◽  
Case Report ◽  
Pompe Disease ◽  
Late Onset ◽  
Review Of The Literature ◽  
Autopsy Findings

scholarly journals Insulinoma in pregnancy (a case presentation and systematic review of the literature)

Rare Tumors ◽  
2021 ◽  
Vol 13 ◽  
pp. 203636132098664
Author(s):  
Eva M Dobrindt ◽  
Martina Mogl ◽  
Peter E Goretzki ◽  
Johann Pratschke ◽  
Agata K Dukaczewska
Keyword(s):  
Systematic Review ◽  
Early Pregnancy ◽  
Clinical Presentation ◽  
Post Partum ◽  
Clinical Signs ◽  
Hyperinsulinemic Hypoglycemia ◽  
Second Trimester ◽  
Review Of The Literature ◽  
Case Presentation ◽  
In Pregnancy

Insulinomas are rare, benign and functional tumors that coincidentally may become overt during pregnancy or in the post-partum period. As the general symptoms of a pregnancy might cover the clinical presentation, diagnosing remains challenging. We present one additional case of a post-partum insulinoma, combined with a systematic review of the literature to sum up relevant details in diagnosis and treatment. A systematic request of Pubmed/Medline was conducted using the following terms: “insulinoma AND pregnancy” and “insulinoma” for a second request of ClinicalTrials.gov. All publications concerning pregnant or post-partum women with insulinoma were included. Thirty-six cases could be identified for analysis. Each publication was reviewed for demographic, diagnostic and therapeutic data. The most frequent clinical signs were unconsciousness and neurological symptoms. 64.9% were diagnosed during early pregnancy and 35.1% post-partum. 91.9% underwent surgery with a third resected during pregnancy without severe influence on fetal or maternal outcome. Three patients died of metastatic disease or misdiagnosing, two of them miscarried. Insulinoma in pregnancy is rare but should be considered in case of unclear hyperinsulinemic hypoglycemia. Surgery can be performed during the second trimester or post-partum with promising outcome.

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