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- Thomas, HS, et al.
(författare)
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- 2019
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swepub:Mat__t
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- Abolhassani, H, et al.
(författare)
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Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021
- 2022
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Ingår i: Frontiers in immunology. - : Frontiers Media SA. - 1664-3224. ; 13, s. 1032358-
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Tidskriftsartikel (refereegranskat)abstract
- The J Project (JP) physician education and clinical research collaboration program was started in 2004 and includes by now 32 countries mostly in Eastern and Central Europe (ECE). Until the end of 2021, 344 inborn errors of immunity (IEI)-focused meetings were organized by the JP to raise awareness and facilitate the diagnosis and treatment of patients with IEI.ResultsIn this study, meeting profiles and major diagnostic and treatment parameters were studied. JP center leaders reported patients’ data from 30 countries representing a total population of 506 567 565. Two countries reported patients from JP centers (Konya, Turkey and Cairo University, Egypt). Diagnostic criteria were based on the 2020 update of classification by the IUIS Expert Committee on IEI. The number of JP meetings increased from 6 per year in 2004 and 2005 to 44 and 63 in 2020 and 2021, respectively. The cumulative number of meetings per country varied from 1 to 59 in various countries reflecting partly but not entirely the population of the respective countries. Altogether, 24,879 patients were reported giving an average prevalence of 4.9. Most of the patients had predominantly antibody deficiency (46,32%) followed by patients with combined immunodeficiencies (14.3%). The percentages of patients with bone marrow failure and phenocopies of IEI were less than 1 each. The number of patients was remarkably higher that those reported to the ESID Registry in 13 countries. Immunoglobulin (IgG) substitution was provided to 7,572 patients (5,693 intravenously) and 1,480 patients received hematopoietic stem cell therapy (HSCT). Searching for basic diagnostic parameters revealed the availability of immunochemistry and flow cytometry in 27 and 28 countries, respectively, and targeted gene sequencing and new generation sequencing was available in 21 and 18 countries. The number of IEI centers and experts in the field were 260 and 690, respectively. We found high correlation between the number of IEI centers and patients treated with intravenous IgG (IVIG) (correlation coefficient, cc, 0,916) and with those who were treated with HSCT (cc, 0,905). Similar correlation was found when the number of experts was compared with those treated with HSCT. However, the number of patients treated with subcutaneous Ig (SCIG) only slightly correlated with the number of experts (cc, 0,489) and no correlation was found between the number of centers and patients on SCIG (cc, 0,174).Conclusions1) this is the first study describing major diagnostic and treatment parameters of IEI care in countries of the JP; 2) the data suggest that the JP had tremendous impact on the development of IEI care in ECE; 3) our data help to define major future targets of JP activity in various countries; 4) we suggest that the number of IEI centers and IEI experts closely correlate to the most important treatment parameters; 5) we propose that specialist education among medical professionals plays pivotal role in increasing levels of diagnostics and adequate care of this vulnerable and still highly neglected patient population; 6) this study also provides the basis for further analysis of more specific aspects of IEI care including genetic diagnostics, disease specific prevalence, newborn screening and professional collaboration in JP countries.
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- de la Vega, Maria Pagnon, et al.
(författare)
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The Uppsala APP deletion causes early onset autosomal dominant Alzheimer's disease by altering APP processing and increasing amyloid beta fibril formation
- 2021
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Ingår i: Science Translational Medicine. - : American Association for the Advancement of Science (AAAS). - 1946-6234 .- 1946-6242. ; 13:606
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Tidskriftsartikel (refereegranskat)abstract
- Point mutations in the amyloid precursor protein gene (APP) cause familial Alzheimer's disease (AD) by increasing generation or altering conformation of amyloid beta (A beta). Here, we describe the Uppsala APP mutation (Delta 690-695), the first reported deletion causing autosomal dominant AD. Affected individuals have an age at symptom onset in their early forties and suffer from a rapidly progressing disease course. Symptoms and biomarkers are typical of AD, with the exception of normal cerebrospinal fluid (CSF) A beta 42 and only slightly pathological amyloid-positron emission tomography signals. Mass spectrometry and Western blot analyses of patient CSF and media from experimental cell cultures indicate that the Uppsala APP mutation alters APP processing by increasing beta-secretase cleavage and affecting alpha-secretase cleavage. Furthermore, in vitro aggregation studies and analyses of patient brain tissue samples indicate that the longer form of mutated A beta, A beta Upp1-42(Delta 19-24), accelerates the formation of fibrils with unique polymorphs and their deposition into amyloid plaques in the affected brain.
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- Amir, M., et al.
(författare)
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Synthesis and Characterization of CoxZn1−xAlFeO4 Nanoparticles
- 2015
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Ingår i: Journal of Inorganic and Organometallic Polymers and Materials. - : Springer Science and Business Media LLC. - 1574-1443 .- 1574-1451. ; 25:4, s. 747-754
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Tidskriftsartikel (refereegranskat)abstract
- Nanocrystalline powders of cobalt and aluminum co-substituted zinc ferrites with general formula CoxZn1−xAlFeO4 (x = 0.0–1.0) have been synthesized for the first time. Using the citrate-microwave technique and the citric acid as combustion–complexion agent (fuel), materials with spinel mono-phase cubic spinel structure were successfully prepared. The characterization of products was done by XRD, SEM and VSM. The crystallite size estimated by Scherrer formula has been found in the range of 7.7–9.6 nm. The magnetic properties were studied by room temperature (RT) VSM magnetization measurements. The small remanent magnetization (Mr) and coercivity (Hc) values reveal the superparamagnetic nature of nanoparticles (NPs) at RT. The extrapolated saturation magnetization (Ms) is maximum for Co0.8Zn0.2AlFeO4 (17.15 emu/g) and minimum for ZnAlFeO4 particles (4.22 emu/g). This case is attributed to high or low amount of cation distribution change from normal to mixed spinel structure. The average magnetic diameters (Dmag) were calculated from magnetic fit studies of M–H spectra. Dmag values are between 8.17 and 8.46 nm and this range is in great accordance with the obtained diameters from XRD measurements. The small Mr/Ms ratios (maximum, 0.219) specify the uniaxial anisotropy according to Stoner–Wohlfarth model for CoxZn1−xAlFeO4 NPs. RT effective anisotropy constants (Keff) were calculated by using Ms and Hc values. Keff constants increased with increasing Co content in the spinel NPs.
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