Clinical, Immunological, and Genetic Features in 938 Patients with Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED): a Systematic Review

Author(s):  
Niusha Sharifinejad ◽  
Majid Zaki-Dizaji ◽  
Shafi Tebyanian ◽  
Hamed Zainaldain ◽  
Mahnaz Jamee ◽  
...  
2012 ◽  
Vol 166 (4) ◽  
pp. 727-739 ◽  
Author(s):  
F. Durbec ◽  
L. Martin ◽  
C. Derancourt ◽  
F. Grange

2020 ◽  
Vol 11 ◽  
Author(s):  
Niusha Sharifinejad ◽  
Mahnaz Jamee ◽  
Majid Zaki-Dizaji ◽  
Bernice Lo ◽  
Mohammadreza Shaghaghi ◽  
...  

Author(s):  
Kenki Matsumoto ◽  
Derek Lim ◽  
Paul D. Pharoah ◽  
Eamonn R. Maher ◽  
Stefan J. Marciniak

AbstractIndividuals with Birt–Hogg–Dubé syndrome (BHDS) may develop fibrofolliculomas, pneumothorax and/or renal cell carcinoma (RCC). Currently, all patients with pathogenic FLCN variants are recommended to have renal surveillance. It has however been suggested that some FLCN variants only cause pneumothorax, which would make surveillance unnecessary in certain cases. This review assesses this possibility. We provide an up-to-date analysis of clinical and genetic features of BHDS. The PUBMED database was systematically searched to find all articles describing patients with pathogenic FLCN variants. The relevant clinical and genetic features of these patients were recorded and analysed. The prevalence of pneumothorax, pulmonary cysts, RCC and characteristic skin lesions in BHDS were 50.9% (n = 1038), 91.9% (n = 720), 22.5% (n = 929) and 47.9% (n = 989), respectively. There was a higher prevalence of pneumothoraces (p < 0.0001) but lower prevalence of dermatological findings (p < 0.0001) in patients from East Asia compared to North America or Europe. Of the 194 pathogenic FLCN variants, 76 could be defined as ‘pneumothorax-only’. Pneumothorax only pathogenic variants (POPVs) were distributed throughout the gene, and there were no statistical differences in variant type. The majority of POPVs (65/76) affected no more than three individuals. Individuals with ‘POPVs’ also tended to be younger (45 vs. 47 years, p < 0.05). Many apparent POPVs in the literature could result from variable expressivity, age-related penetrance and other confounding factors. We therefore recommend that all individuals found to carry a pathogenic FLCN variant be enroled in lifelong surveillance for RCC.


2019 ◽  
Vol 59 (3) ◽  
pp. 323-333 ◽  
Author(s):  
Mahnaz Jamee ◽  
Shakiba Moniri ◽  
Majid Zaki-Dizaji ◽  
Peter Olbrich ◽  
Reza Yazdani ◽  
...  

2021 ◽  
Author(s):  
Carlos P Jara ◽  
Natalia Ferreira Mendes ◽  
Claudinei José Gomes Campos ◽  
Maria Isabel Pedreira de Freitas ◽  
Henrique Ceretta Oliveira ◽  
...  

AbstractObesity is an increasing new pandemic. Currently more than 1.9 billion adults are overweight and at least 700 million of them are obese. Obesity is the result of a positive energy balance, which is conditioned by both environmental and genetic factors. Interestingly, individuals from similar ethnic-based ancestry communities, share both environmental and genetic features. Here, we described the relationship between indigenous Chilean groups and body mass Index. We conducted a Systematic review and Meta-analysis on Pubmed, LILACS, Scielo, Web of Science and Scopus databases. Our results showed that Indigenous Children present a lower BMI than Non-Indigenous Children. However, no difference within BMI was identified in adults. The gender affected the BMI as well. Aymara and Mapuche Women presented higher BMI than Indigenous Men. In the other hand, Indigenous people living in rural environment showed lower BMI than those whose live-in urban areas. Finally, Indigenous communities presented no difference in the risk to suffer Obesity when compared with Non-Indigenous communities. Here suggest that ethnicity could be a health determinant as well as a risk factor for obesity. Then, targeted prevention strategies with ethnic-based focus would be developed.


2021 ◽  
Author(s):  
Joham Choque-Velasquez ◽  
Szymon Baluszek ◽  
Sajjad Muhammad ◽  
Juha Hernesniemi

Abstract Purpose: Glioblastoma multiforme of the pineal region harbors high mortality in the first year of treatment. This study aims to deepen the study of pineal GBM patients for finding independent predictors of mortality, focusing on the therapeutic modalities and genetic features.Methods: We present a systematic review of the long-term outcomes of the disease with a focus on the therapeutic modalities and genetic features.Results: The median overall survival of the disease is 12 months. Biopsy (HR:4.2, p=0.002, and a median survival of 19 months) and radiochemotherapy (HR:4.1, p<0.001, and a median survival of 18 months) represent independent predictors of pineal glioblastoma survival. H3K27M mutant patients had a median survival of 23 months versus the ten-months median survival of the H3K27 wild type. However, no statistical difference exists due to the limited number of cases. The disease's local progression and recurrence seem higher in patients undergoing surgical removal than biopsy procedures (p=0.021).Conclusions: Biopsy and radiochemotherapy represent independent predictors of pineal GBM survival. Surgical resection different from biopsy seems to increase the risks of local progression and recurrence. However, further studies should focus on the impact of the genetic profile on long-term outcomes.


2021 ◽  
Author(s):  
Yali Wei ◽  
Yan Meng ◽  
Na Li ◽  
Qian Wang ◽  
Liyong Chen

The purpose of the systematic review and meta-analysis was to determine if low-ratio n-6/n-3 long-chain polyunsaturated fatty acid (PUFA) supplementation affects serum inflammation markers based on current studies.


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