scholarly journals Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

Blood ◽  
2016 ◽  
Vol 127 (8) ◽  
pp. 997-1006 ◽  
Author(s):  
Sandra Ammann ◽  
Ansgar Schulz ◽  
Ingeborg Krägeloh-Mann ◽  
Nele M. G. Dieckmann ◽  
Klaus Niethammer ◽  
...  

Key Points A phenotype with albinism, early-onset seizures, neurodevelopmental delay, infection susceptibility, and neutropenia is caused by AP3D1 mutations. AP3δ deficiency destabilizes the AP3 complex and defines a novel type of Hermansky-Pudlak syndrome with severe neurologic involvement.

Blood ◽  
2015 ◽  
Vol 125 (5) ◽  
pp. 753-761 ◽  
Author(s):  
Polina Stepensky ◽  
Anne Rensing-Ehl ◽  
Ruth Gather ◽  
Shoshana Revel-Vilk ◽  
Ute Fischer ◽  
...  

Key Points Deficiency of TPP2 is associated with Evans syndrome and viral infection susceptibility. TPP2 deficiency links premature immunosenescence of T and B cells with severe autoimmunity.


2020 ◽  
Author(s):  
Peter Schulz ◽  
Elin Andersson ◽  
Nicole Bizzotto ◽  
Margareta Norberg

BACKGROUND The foray of Covid-19 around the globe is sure to have instigated worries in many humans, and lockdown measures may well have created their own worries. Sweden, in contrast to most other countries, had first relied on voluntary measures, but had to change its policy in the face of an increasing number of infections. OBJECTIVE The aim was to better understand the worried reactions to the virus and the lockdown measures. To grasp the reactions, their development over time was studied. METHODS Results were based on an unbalanced panel sample of 261 Swedish participants filling in 3218 interview questionnaires by smartphone in a 7-week period in 2020. Causal factors considered in this study include the perceived severity of an infection, the susceptibility of a person to the threat posed by the virus, the perceived efficacy of safeguarding measures and the assessment of government action against the spread of Covid-19. The effect of these factors on worries was traced in two analytical steps: the effects at the beginning of the study, and the effect on the trend during the study. RESULTS Findings confirmed that the hypothesized causal factors (severity of infection, susceptibility to the threat of the virus, efficacy of safeguarding and the assessment of government preventive action did indeed affect worries. CONCLUSIONS The results confirmed earlier research in a very special case and demonstrated the usefulness of a different study design, which takes a longitudinal perspective, and a new type of data analysis borrowed from multi-level study design.


2011 ◽  
Vol 335-336 ◽  
pp. 1308-1311
Author(s):  
Bin Yang ◽  
Tao Xu ◽  
Ming Zhe Shen

For the use of Fuel Cells in transportation, one of the key points is to reduce Pt loading in Pt/C catalytic electrode. In our study, a new type of Pt/C membrane electrodes, PtCuLaOx heterogeneous structure, in which with developing different La content homogeneously dispersed on the surface of carbonaceous substrates was manufactured by Ion Beam Sputtering (IBS) technology, and also was treated by different annealing temperature in muffle furnace. It was found that PtCuLaOx heterogeneous membrane with Pt loading less than 0.05mg/cm2 (the electrode area) in which its having complicated valence state, indicated that Pt had mutual effect with Cu, La and O, respectively. In addition, along with increases the annealing temperature, the instant result was to promote alloying of Pt, Cu and La in PtCuLaOx/C catalytic electrodes.


Author(s):  
W. J. Xie ◽  
L. Zhang ◽  
H. P. Chen

Abstract. GlobeLand30 update data is one of the important products of the Construction Maintenance and Update of Geographic Information Resources Project (hereinafter referred to as the Update Project). It provides important basic information for national geographical conditions monitoring, eco-environmental assessment and global geographic information integrated services. Different from the land cover classification data in National Geoinformation Surveying and Monitoring Project, GlobeLand30 update data is a completely new type of scientific research outcomes with new setup of resolution, its data format and data structure are newly set according to the requirements of the Update Project. Therefore, current inspecting methods are of limitations and incompatibility and cannot be firmly reasonable for inspecting the accuracy of GlobeLand30 update data. Combining with the practice of quality control for the Update Project, this paper proposes a set of methods and processes for the quality inspection of the GlobeLand30 update data. It also summarizes the key points of its inspection and analyses the common errors found in the actual inspection practice of the Update Project from 2017 to 2018. It can provide a certain technical reference for the quality control and quality improvement of GlobeLand30 update data in the Update Project.


Blood ◽  
2018 ◽  
Vol 131 (17) ◽  
pp. 1955-1959 ◽  
Author(s):  
David Ghez ◽  
Anne Calleja ◽  
Caroline Protin ◽  
Marine Baron ◽  
Marie-Pierre Ledoux ◽  
...  

Key Points Ibrutinib may be associated with invasive fungal infections especially IA. Most infections usually occur during the first months of treatment, often in patients with other risk factors for fungal infections.


Diabetes ◽  
2014 ◽  
Vol 63 (10) ◽  
pp. 3557-3564 ◽  
Author(s):  
D. Simaite ◽  
J. Kofent ◽  
M. Gong ◽  
F. Ruschendorf ◽  
S. Jia ◽  
...  

Blood ◽  
2013 ◽  
Vol 121 (9) ◽  
pp. 1510-1516 ◽  
Author(s):  
Nizar Mahlaoui ◽  
Isabelle Pellier ◽  
Cécile Mignot ◽  
Jean-Philippe Jais ◽  
Chrystèle Bilhou-Nabéra ◽  
...  

Key Points This study identified a distinct subgroup of WAS patients with an early onset (before the age of 2 years) of severe, life-threatening manifestations. HSCT is a curative strategy in this subgroup of patients and should be performed as early in life as possible, even when a fully matched donor is lacking.


2011 ◽  
Vol 295-297 ◽  
pp. 2589-2593
Author(s):  
Xian Chun Cheng ◽  
Xiao Wei Jiang ◽  
Shao Jun Liu

Since the fitness washing machine can combine the fitness movement with the housework, this paper analyzes the design purpose and meaning of fitness washing machine. In view of the design problem of the existing fitness washing machine, this paper designs a new type fitness washing machine and states the specific design scheme, related calculation and structure, application method and innovation points, among them the part of design methods mainly expounds the technical key points, technical index and transmission line, and the part of related calculation and structure mainly expounds the human calculations, design main parameter selection and washing machine connection part structure. Furthermore, the application method is introduced. At last, the innovation points have been pointed out.


2012 ◽  
Vol 594-597 ◽  
pp. 2025-2029
Author(s):  
An Hui Wang ◽  
Hong Sheng He

This paper introduced a new type of retaining structure in roadbed of a high-speed railway Station--Three dimensional Drainage Flexible and Ecological Reinforced Earth Retaining Wall. Both side efforts of this structure have taken into account in lope protection and environmental protection, so it can be promoted in high-speed railway construction. Its main advantages included: ecology, environment protection, simple construction method, the better adaptability to differential settlement, the better stability, and so on. This type of retaining structure mainly composed by geogrid, ecological bags, tying belts, connecting buckle, etc. In the construction should pay attention to the technical requirements of the laying of geogrid, the stacking of the eco-bags and placing of connecting buckle and so on. This paper discussed briefly of the type structure from its advantages, its compositions and its construction key points


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