scholarly journals A novel variant in the neutrophil cytosolic factor 2 ( NCF2 ) gene results in severe disseminated BCG infectious disease: A clinical report and literature review

2020 ◽  
Vol 8 (6) ◽  
Author(s):  
Suzan A. AlKhater ◽  
Caroline Deswarte ◽  
Jean‐Laurent Casanova ◽  
Jacinta Bustamante
2021 ◽  
Vol 20 (2) ◽  
Author(s):  
Prima Dewi Novalia ◽  
Lina Handayani

At the end of 2019, the world was shocked by the new virus called the corona virus (COVID-19), this virus was first discovered in the Wuhan area, China. COVID-19 is an infectious disease that attacks the respiratory tract. Humans exposed to this virus usually experience mild to severe symptoms. The purpose of this literature study is to discuss how the 3M health protocols application . the method us the literature review. The literature consists of journals with a travel year from 2011 to 2021. Literature collection is done through google scholar using the keywords “3M health protocol”, “COVID-19 pandemic”, and “community”. The results of the literature search were 73 articles that were relevant to the keywords, as many as 60 articles were excluded because they were not relevant to the author’s criteria. Total 13 articles using inclusion and exclusion criteria were obtained 5 articles with good quality. Review results show that most people have not implemented 3M health protocols properly and correctly, this is one of the causes of the increase in COVID-19 cases.


2021 ◽  
Author(s):  
Piero Pavone ◽  
Xena Giada Pappalardo ◽  
Naira Mustafa ◽  
Sung Yoon Cho ◽  
Dong Kyu Jin ◽  
...  

Abstract BACKGROUND Alternating Hemiplegia of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months, recurrent hemiplegia of one or either sides of the body or quadriplegia. Neurological comorbidities observed in two couples of AHC affected children are here reported together with data drawn by literature review. Results of genetic analysis obtained in the probands are also discussed. Developmental delay, epilepsy, tonic or dystonic spells, nystagmus and autonomic manifestations are frequently reported. AHC is mainly caused by mutations in ATP1A3 gene, and to a lesser extent in ATP1A2 gene.CASE PRESENTATION Clinical and genetic findings of a couple of twins and a couple of siblings affected by AHC from two different Italian families were deeply examined. Intrafamilial clinical variability was shown in the present cases. A pathogenic variant rs606231437 in ATP1A3 gene was detected in twins. For the affected siblings of family 2, the genetic results showed that the older brother and the healthy father shared a novel variant of GRIN2A (c.3175T>A) gene, and two missense mutations in SCNIB (rs150721582) and KCNQ2 (rs771211103) genes. In the younger brother was found only the GRIN2A variant.CONCLUSIONS Developmental delay, epileptic seizures and motor dysfunction are features frequently associated to paroxysmal hemiplegic attacks. Hemiplegic episode is only a sign even if the most remarkable of several neurological comorbidities in AHC carriers. The comparison of molecular analysis among the four probands brings out how the genetic framework is not recurrent, but may result from an unexpected greater genetic heterogeneity.


2020 ◽  
Vol 7 (9) ◽  
Author(s):  
Takaaki Kobayashi ◽  
Alexandre R Marra ◽  
Marin L Schweizer ◽  
Patrick Ten Eyck ◽  
Chaorong Wu ◽  
...  

Abstract Background Morbidity and mortality from candidemia remain unacceptably high. While infectious disease consultation (IDC) is known to lower the mortality from Staphylococcus aureus bacteremia, little is known about the impact of IDC in candidemia. Methods We conducted a retrospective observational cohort study of candidemia patients at a large tertiary care hospital between 2015 and 2019. The crude mortality rate was compared between those with IDC and without IDC. Then, we systematically searched 5 databases through February 2020 and performed a meta-analysis of the impact of IDC on the mortality of patients with candidemia. Results A total of 151 patients met the inclusion criteria, 129 (85%) of whom received IDC. Thirty-day and 90-day mortality rates were significantly lower in the IDC group (18% vs 50%; P = .002; 23% vs 50%; P = .0022, respectively). A systematic literature review returned 216 reports, of which 13 studies including the present report fulfilled the inclusion criteria. Among the 13 studies with a total of 3582 patients, IDC was performed in 50% of patients. Overall mortality was 38.2% with a significant difference in favor of the IDC group (28.4% vs 47.6%), with a pooled relative risk of 0.41 (95% CI, 0.35–0.49). Ophthalmology referral, echocardiogram, and central line removal were performed more frequently among patients receiving IDC. Conclusions This study is the first systematic literature review and meta-analysis to evaluate the association between IDC and candidemia mortality. IDC was associated with significantly lower mortality and should be considered in all patients with candidemia.


2020 ◽  
Vol 30 (5) ◽  
pp. 928-935 ◽  
Author(s):  
Jonathan E Suk ◽  
Eleanor C Vaughan ◽  
Robert G Cook ◽  
Jan C Semenza

Abstract Background Natural disasters are increasing in their frequency and complexity. Understanding how their cascading effects can lead to infectious disease outbreaks is important for developing cross-sectoral preparedness strategies. The review focussed on earthquakes and floods because of their importance in Europe and their potential to elucidate the pathways through which natural disasters can lead to infectious disease outbreaks. Methods A systematic literature review complemented by a call for evidence was conducted to identify earthquake or flooding events in Europe associated with potential infectious disease events. Results This review included 17 peer-reviewed papers that reported on suspected and confirmed infectious disease outbreaks following earthquakes (4 reports) or flooding (13 reports) in Europe. The majority of reports related to food- and water-borne disease. Eleven studies described the cascading effect of post-disaster outbreaks. The most reported driver of disease outbreaks was heavy rainfall, which led to cross-connections between water and other environmental systems, leading to the contamination of rivers, lakes, springs and water supplies. Exposure to contaminated surface water or floodwater following flooding, exposure to animal excreta and post-disaster living conditions were among other reported drivers of outbreaks. Conclusions The cascade effects of natural disasters, such as earthquakes and floods, include outbreaks of infectious disease. The projection that climate change-related extreme weather events will increase in Europe in the coming century highlights the importance of strengthening preparedness planning and measures to mitigate and control outbreaks in post-disaster settings.


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