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| 2. |
- Asgardoon, MH, et al.
(författare)
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Monogenic Primary Immunodeficiency Disorder Associated with Common Variable Immunodeficiency and Autoimmunity
- 2020
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Ingår i: International archives of allergy and immunology. - : S. Karger AG. - 1423-0097 .- 1018-2438. ; 181:9, s. 706-714
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Tidskriftsartikel (refereegranskat)abstract
- <b><i>Background:</i></b> Common variable immunodeficiency (CVID) is the most frequent primary immunodeficiency disorder mainly characterized by recurrent bacterial infections besides other immunological defects including loss of or dysfunction of B cells and decreased immunoglobulin levels. In this study, our aim is to evaluate clinical, immunological, and molecular data of patients with a primary clinical diagnosis of CVID and autoimmune phenotype with a confirmed genetic diagnosis. <b><i>Methods:</i></b> Among 297 patients with CVID, who were registered in the Iranian Primary Immunodeficiency Registry at Children’s Medical Center Hospital in Iran, 83 patients have been genetically examined and 27 patients with autoimmunity and confirmed genetic mutations were selected for analysis. Whole-exome sequencing and confirmatory Sanger sequencing methods were used for the study population. A questionnaire was retrospectively filled for all patients to evaluate demographic, laboratory, clinical, and genetic data. <b><i>Results:</i></b> In the 27 studied patients, 11 different genetic defects were identified, and the most common mutated gene was <i>LRBA</i>, reported in 17 (63.0%) patients. Two patients (7.7%) showed autoimmune complications as the first presentation of immunodeficiency. Eleven patients (40.7%) developed one type of autoimmunity, and 16 patients (59.3%) progressed to poly-autoimmunity. Most of the patients with mono-autoimmunity (<i>n</i> = 9, 90.0%) primarily developed infectious complications, while in patients with poly-autoimmunity, the most common first presentation was enteropathy (<i>n</i> = 6, 37.6%). In 13 patients (61.9%), the diagnosis of autoimmune disorders preceded the diagnosis of primary immunodeficiency. The most frequent autoimmune manifestations were hematologic (40.7%), gastrointestinal (48.1%), rheumatologic (25.9%), and dermatologic (22.2%) disorders. Patients with poly-autoimmunity had lower regulatory T cells than patients with mono-autoimmunity. <b><i>Conclusion:</i></b> In our cohort, the diagnosis of autoimmune disorders preceded the diagnosis of primary immunodeficiency in most patients. This association highlights the fact that patients referring with autoimmune manifestations should be evaluated for humoral immunity.
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| 5. |
- Thompson, Paul M., et al.
(författare)
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The ENIGMA Consortium : large-scale collaborative analyses of neuroimaging and genetic data
- 2014
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Ingår i: BRAIN IMAGING BEHAV. - : Springer Science and Business Media LLC. - 1931-7557 .- 1931-7565. ; 8:2, s. 153-182
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Tidskriftsartikel (refereegranskat)abstract
- The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA's first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way.
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| 8. |
- Delavari, S, et al.
(författare)
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Impact of SARS-CoV-2 Pandemic on Patients with Primary Immunodeficiency
- 2021
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Ingår i: Journal of clinical immunology. - : Springer Science and Business Media LLC. - 1573-2592 .- 0271-9142. ; 41:2, s. 345-355
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Tidskriftsartikel (refereegranskat)abstract
- Although it is estimated that COVID-19 life-threatening conditions may be diagnosed in less than 1:1000 infected individuals below the age of 50, but the real impact of this pandemic on pediatric patients with different types of primary immunodeficiency (PID) is not elucidated. The current prospective study on a national registry of PID patients showed that with only 1.23 folds higher incidence of infections, these patients present a 10-folds higher mortality rate compared to population mainly in patients with combined immunodeficiency and immune dysregulation. Therefore, further management modalities against COVID-19 should be considered to improve the survival rate in these two PID entities using hematopoietic stem cell transplantation and immunomodulatory agents.
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| 9. |
- Tavakol, M, et al.
(författare)
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Diversity of malignancies in patients with different types of inborn errors of immunity
- 2022
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Ingår i: Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology. - : Springer Science and Business Media LLC. - 1710-1484. ; 18:1, s. 106-
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Tidskriftsartikel (refereegranskat)abstract
- Genetic defects in the development, maturation, and/or function of the immune cells can lead to Inborn errors of immunity (IEI) which may predispose patients to malignancies. The overall risk for cancer in children with IEI ranges from 4 to 25% and the type of malignancy is highly dependent on the specific mutant gene underlying IEI. We investigated 3056 IEI patients registered in the Iranian national registry between the years 1999 and 2020 in this retrospective cohort study. The frequency of malignancy and its association with the type of IEI in these patients were evaluated. A total of 82 IEI patients with malignancy were enrolled in this study. Among them, predominantly lymphoma was the most common type of malignancy (67.1%), followed by leukemia (11%), and cancers of the head and neck (7.3%). Among identified lymphoma cancers, non-Hodgkin’s lymphomas were the most frequent type (43.9%) followed by different subtypes of Hodgkin’s lymphoma (23.2%). Solid tumors (18.3%) appeared to be very heterogeneous by type and localization. The correlation between the type of malignancy and survival status and the association between the type of malignancy and IEI entities were unremarkable. The awareness of the association between the presence of IEI and cancer highlights the importance of a synergistic effort by oncologists and immunologists in the early diagnosis of malignancy and personalized therapeutic strategies in IEI patients.
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| 10. |
- Ahvenniemi, Esko, et al.
(författare)
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Recommended reading list of early publications on atomic layer deposition-Outcome of the "Virtual Project on the History of ALD"
- 2017
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Ingår i: Journal of Vacuum Science & Technology. A. Vacuum, Surfaces, and Films. - : American Vacuum Society. - 0734-2101 .- 1520-8559. ; 35:1
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Forskningsöversikt (refereegranskat)abstract
- Atomic layer deposition (ALD), a gas-phase thin film deposition technique based on repeated, self-terminating gas-solid reactions, has become the method of choice in semiconductor manufacturing and many other technological areas for depositing thin conformal inorganic material layers for various applications. ALD has been discovered and developed independently, at least twice, under different names: atomic layer epitaxy (ALE) and molecular layering. ALE, dating back to 1974 in Finland, has been commonly known as the origin of ALD, while work done since the 1960s in the Soviet Union under the name "molecular layering" (and sometimes other names) has remained much less known. The virtual project on the history of ALD (VPHA) is a volunteer-based effort with open participation, set up to make the early days of ALD more transparent. In VPHA, started in July 2013, the target is to list, read and comment on all early ALD academic and patent literature up to 1986. VPHA has resulted in two essays and several presentations at international conferences. This paper, based on a poster presentation at the 16th International Conference on Atomic Layer Deposition in Dublin, Ireland, 2016, presents a recommended reading list of early ALD publications, created collectively by the VPHA participants through voting. The list contains 22 publications from Finland, Japan, Soviet Union, United Kingdom, and United States. Up to now, a balanced overview regarding the early history of ALD has been missing; the current list is an attempt to remedy this deficiency.
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| 11. |
- Aibinu, A.M., et al.
(författare)
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Vascular intersection detection in retina fundus images using a new hybrid approach
- 2010
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Ingår i: Computers in Biology and Medicine. - : Elsevier. - 0010-4825 .- 1879-0534. ; 40:1, s. 81-89
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Tidskriftsartikel (refereegranskat)abstract
- The use of vascular intersection aberration as one of the signs when monitoring and diagnosing diabetic retinopathy from retina fundus images (FIs) has been widely reported in the literature. In this paper, a new hybrid approach called the combined cross-point number (CCN) method able to detect the vascular bifurcation and intersection points in FIs is proposed. The CCN method makes use of two vascular intersection detection techniques, namely the modified cross-point number (MCN) method and the simple cross-point number (SCN) method. Our proposed approach was tested on images obtained from two different and publicly available fundus image databases. The results show a very high precision, accuracy, sensitivity and low false rate in detecting both bifurcation and crossover points compared with both the MCN and the SCN methods.
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| 12. |
- Salami, A., et al.
(författare)
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Association of APOE epsilon 4 and Plasma p-tau181 with Preclinical Alzheimer's Disease and Longitudinal Change in Hippocampus Function
- 2022
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Ingår i: Journal of Alzheimers Disease. - : IOS Press. - 1387-2877 .- 1875-8908. ; 85:3, s. 1309-1320
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Tidskriftsartikel (refereegranskat)abstract
- Background: The Apolipoprotein E (APOE) epsilon 4 allele has been linked to increased tau phosphorylation and tangle formation. APOE epsilon 4 carriers with elevated tau might be at the higher risk for Alzheimer's disease (AD) progression. Previous studies showed that tau pathology begins early in areas of the medial temporal lobe Similarly, APOE epsilon 4 carriers showed altered hippocampal functional integrity. However, it remains unknown whether the influence of elevated tau accumulation on hippocampal functional changes would be more pronounced for APOE epsilon 4 carriers. Objective: We related epsilon 4 carriage to levels of plasma phosphorylated tau (p-taul 81) up to 15 years prior to AD onset. Furthermore, elevated p-tau181 was explored in relation to longitudinal changes in hippocampal function and connectivity. Methods: Plasma p-taul 81 was analyzed in 142 clinically defined AD cases and 126 matched controls. The longitudinal analysis involved 87 non-demented individuals (from population-based study) with two waves of plasma samples and three waves of functional magnetic resonance imaging during rest and memory encoding. Results: Increased p-taul 81 was observed for both epsilon 4 carriers and non-carriers close to AD onset, but exclusively for epsilon 4 carriers in the early preclinical groups (7- and 13-years pre-AD). In epsilon 4 carriers, longitudinal p-taul 81 increase was paralleled by elevated local hippocampal connectivity at rest and subsequent reduction of hippocampus encoding-related activity. Conclusion: Our findings support an association of APOE epsilon 4 and p-tau181 with preclinical AD and hippocampus functioning.
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| 14. |
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| 16. |
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| 17. |
- Salami, B., et al.
(författare)
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LEGaTO: Low-Energy, Secure, and Resilient Toolset for Heterogeneous Computing
- 2020
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Ingår i: PROCEEDINGS OF THE 2020 DESIGN, AUTOMATION & TEST IN EUROPE CONFERENCE & EXHIBITION (DATE 2020). - 1530-1591. - 9783981926347 ; , s. 169-174
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Konferensbidrag (refereegranskat)abstract
- The LEGaTO project leverages task-based programming models to provide a software ecosystem for Made in-Europe heterogeneous hardware composed of CPUs, GPUs, FPGAs and dataflow engines. The aim is to attain one order of magnitude energy savings from the edge to the converged cloud/HPC, balanced with the security and resilience challenges. LEGaTO is an ongoing three-year EU H2020 project started in December 2017.
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| 18. |
- Salami, F, et al.
(författare)
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DETECTION OF LACTOBACILLI IN MONTHLY MAIL-IN STOOL SAMPLES FROM 3-18 MONTHS OLD INFANTS AT GENETIC RISK FOR TYPE 1 DIABETES
- 2012
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Ingår i: International journal of probiotics & prebiotics. - 1555-1431. ; 7:3-4, s. 135-144
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Tidskriftsartikel (refereegranskat)abstract
- The feasibility to detect lactobacilli in mail-in infant stools collected monthly from 3-18 months old children was investigated. The aim was to determine total lactobacilli and Lactobacillus plantarum (L. plantarum) content (ng/g feces) in 50 infants each from Colorado (648 samples), Finland (624 samples) and Sweden (685 samples) who participated in the TEDDY (The Environmental Determinants of Diabetes in the Young) study. Total lactobacilli content varied markedly between 5 and 16,800 ng/g feces in the three clinical sites within and between individuals especially in infants. L.plantarum also varied markedly intra- and inter-individually from <0.5 - 736 ng/g feces. A higher variability of total lactobacilli was found before 10 months of age than after in the three different clinical sites. Sweden had the lowest total lactobacilli content compared to Colorado and Finland while the L.plantarum content was higher in Sweden. Mail-in stool samples from infants should prove useful in analyzing probiotics in childhood.
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| 19. |
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| 20. |
- Salami, H., et al.
(författare)
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Spectroscopic observations, spin-orbit functions, and coupled-channel deperturbation analysis of data on the A (1)Sigma(+)(u) and b (3)Pi(u) states of Rb-2
- 2009
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Ingår i: Physical Review A (Atomic, Molecular and Optical Physics). - 1050-2947. ; 80:2
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Tidskriftsartikel (refereegranskat)abstract
- We present experimentally derived potential curves and spin-orbit interaction functions for the strongly perturbed A (1)Sigma(+)(u) and b (3)Pi(u) states of the rubidium dimer. The results are based on laser-induced fluorescence and optical-optical double-resonance polarization spectroscopy measurements combined with earlier laser-induced fluorescence data. We used an analytic potential (Hannover form) incorporated in a discrete variable representation of the Hamiltonian matrix for numerical energy-level calculation. A previous vibrational assignment of the A levels is confirmed, and very probable vibrational assignment for the b levels is also obtained. Currently, the rms residual of our fit is 0.053 cm(-1) as compared to the typical experimental uncertainties that are estimated to be 0.005 cm(-1). Fitted diagonal and off-diagonal spin-orbit functions are obtained and compared with ab initio calculations by all electrons and effective core pseudopotential methods. Analysis of the computational results yields an explanation for the ubiquitous single minima in these spin-orbit functions, which can be represented approximately by Morse-type functions.
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| 21. |
- Aibinu, A.M., et al.
(författare)
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A New Method of Correcting Uneven Illumination Problem in Fundus Images
- 2007
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Konferensbidrag (refereegranskat)abstract
- Recent advancements in signal and image processing have reduced the time of diagnoses, effort and pressure on the screeners by providing auto diagnostic tools for different diseases. The success rate of these tools greatly depend on the quality of acquired images. Bad image quality can significantly reduce the specificity and the sensitivity which in turn forces screeners back to their tedious job of manual diagnoses. In acquired fundus images, some areas appear to be brighter than the other, that is areas close to the center of the image are always well illuminated, hence appear very bright while areas far from the center are poorly illuminated hence appears to be very dark. Several techniques including the simple thresholding, Naka Rushton (NR) filtering technique and histogram equalization (HE) method have been suggested by various researchers to overcome this problem. However, each of these methods has limitations at their own and hence the need to develop a more robust technique that will provide better performance with greater flexibility. A new method of compensating uneven (irregular) illumination in fundus images termed global-local adaptive histogram equalization using partially-overlapped windows (GLAPOW) is proposed in this paper. The developed algorithm has been tested and the results obtained show superior performance when compared to other known techniques for uneven illumination correction.
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| 22. |
- Aibinu, A.M., et al.
(författare)
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Automatic Diagnosis of Diabetic Retinopathy from Fundus Images Using Digital Signal and Image Processing Techniques
- 2007
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Konferensbidrag (refereegranskat)abstract
- Automatic diagnosis and display of diabetic retinopathy from images of retina using the techniques of digital signal and image processing is presented in this paper. The acquired images undergo pre-processing to equalize uneven illumination associated with the acquired fundus images. This stage also removes noise present in the image. Segmentation stage clusters the image into two distinct classes while the abnormalities detection stage was used to distinguish between candidate lesions and other information. Methods of diagnosis of red spots, bleeding and detection of vein-artery crossover points have also been developed in this work using the color information, shape, size, object length to breadth ration as contained in the acquired digital fundus image. Furthermore, two graphical user interfaces (GUIs) have also been developed during this work; the first is for the collection of lesion data information and was used by the ophthalmologist in marking images for database while the second GUI is for automatic diagnosing and displaying of the result in a user friendly manner. The algorithm was tested with a separate set of 25 fundus images. From this, the result obtained for microaneurysms and haemorrhages diagnosis shows the appropriateness of the method.
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| 23. |
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| 24. |
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| 25. |
- Iqbal, Muhammad Imran, et al.
(författare)
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Detection of Vascular Intersection in Retina Fundus Image Using Modified Cross Point Number and Neural Network Technique
- 2008
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Konferensbidrag (refereegranskat)abstract
- Vascular intersection can be used as one of the symptoms for monitoring and diagnosis of diabetic retinopathy from fundus images. In this work we apply the knowledge of digital image processing, fuzzy logic and neural network technique to detect bifurcation and vein-artery cross-over points in fundus images. The acquired images undergo preprocessing stage for illumination equalization and noise removal. Segmentation stage clusters the image into two distinct classes by the use of fuzzy c-means technique, neural network technique and modified cross-point number (MCN) methods were employed for the detection of bifurcation and cross-over points. MCN uses a 5x5 window with 16 neighboring pixels for efficient detection of bifurcation and cross over points in fundus images. Result obtained from applying this hybrid method on both real and simulated vascular points shows that this method perform better than the existing simple cross-point number (SCN) method, thus an improvement to the vascular point detection and a good tool in the monitoring and diagnosis of diabetic retinopathy. ©2008 IEEE.
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