| 1. |
- Clausen, Niels, et al.
(författare)
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Similar bleeding phenotype in young children with haemophilia A or B : A cohort study
- 2014
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Ingår i: Haemophilia. - : Wiley. - 1351-8216. ; 20:6, s. 747-755
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Tidskriftsartikel (refereegranskat)abstract
- The bleeding phenotype has been suggested to differ between haemophilia A and B. More knowledge on the bleeding phenotype at initiation of treatment is important to optimize patient care. The aim of this study was to investigate the severity of the bleeding phenotype and the variation in bleeding in children with severe or moderate haemophilia A and B. Consecutive, previously untreated patients with severe or moderate haemophilia A and B (factor VIII or IX activity <0.01 or 0.01-0.05 IU mL-1 respectively) born between January 1st 2000 and January 1st 2010 were included. Primary outcome was severity of bleeding tendency. Secondary outcome was variation in bleeding pattern. A total of 582 patients with severe haemophilia A and 76 with severe haemophilia B did not differ in age at first exposure to clotting factor (0.81 vs. 0.88 years, P = 0.20), age at first bleed (0.82 vs. 0.88 years, P = 0.36), and age at first joint bleed (1.18 vs. 1.20 years, P = 0.59). Patients with moderate haemophilia were older compared to patients with severe haemophilia. In patients with moderate haemophilia there were no clear differences between haemophilia A and B. Severity and variation in bleeding phenotype are similar during the early stage of treatment in patients with severe and moderate haemophilia A and B respectively. The findings imply that children with haemophilia B should be observed and treated as vigilantly as those with haemophilia A.
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| 2. |
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| 3. |
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| 4. |
- Eckhardt, CL, et al.
(författare)
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Factor VIII gene (F8) mutation and risk of inhibitor development in nonsevere hemophilia A
- 2013
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Ingår i: Blood. - : American Society of Hematology. - 1528-0020 .- 0006-4971. ; 122:11, s. 1954-1962
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Tidskriftsartikel (refereegranskat)abstract
- The inhibitor incidence in nonsevere hemophilia A patients with certain F8 mutations approaches the inhibitor incidence in severe patients. These findings are highly relevant for clinical practice, as they facilitate identification of high-risk patients based on F8 genotype.
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| 5. |
- Farroni, C., et al.
(författare)
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Dysregulated miR-155 and miR-125b are related to impaired B-cell responses in down syndrome
- 2018
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Ingår i: Frontiers in Immunology. - : Frontiers Media SA. - 1664-3224. ; 9
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Tidskriftsartikel (refereegranskat)abstract
- Children with Down Syndrome (DS) suffer from immune deficiency with a severe reduction in switched memory B cells (MBCs) and poor response to vaccination. Chromosome 21 (HSA21) encodes two microRNAs (miRs), miR-125b, and miR-155, that regulate B-cell responses. We studied B- and T- cell subpopulations in tonsils of DS and age-matched healthy donors (HD) and found that the germinal center (GC) reaction was impaired in DS. GC size, numbers of GC B cells and Follicular Helper T cells (TFH) expressing BCL6 cells were severely reduced. The expression of miR-155 and miR-125b was increased in tonsillar memory B cells and miR-125b was also higher than expected in plasma cells (PCs). Activation-induced cytidine deaminase (AID) protein, a miR-155 target, was significantly reduced in MBCs of DS patients. Increased expression of miR-155 was also observed in vitro. MiR-155 was significantly overexpressed in PBMCs activated with CpG, whereas miR-125b was constitutively higher than normal. The increase of miR-155 and its functional consequences were blocked by antagomiRs in vitro. Our data show that the expression of HSA21-encoded miR-155 and miR-125b is altered in B cells of DS individuals both in vivo and in vitro. Because of HSA21-encoded miRs may play a role also in DS-associated dementia and leukemia, our study suggests that antagomiRs may represent pharmacological tools useful for the treatment of DS. © 2007 - 2018 Frontiers Media S.A. All Rights Reserved.
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| 9. |
- Loth, Daan W, et al.
(författare)
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Genome-wide association analysis identifies six new loci associated with forced vital capacity
- 2014
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46, s. 669-677
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Tidskriftsartikel (refereegranskat)abstract
- Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and followed up the top associations in 32,917 additional individuals of European ancestry. We found six new regions associated at genome-wide significance (P < 5 × 10(-8)) with FVC in or near EFEMP1, BMP6, MIR129-2-HSD17B12, PRDM11, WWOX and KCNJ2. Two loci previously associated with spirometric measures (GSTCD and PTCH1) were related to FVC. Newly implicated regions were followed up in samples from African-American, Korean, Chinese and Hispanic individuals. We detected transcripts for all six newly implicated genes in human lung tissue. The new loci may inform mechanisms involved in lung development and the pathogenesis of restrictive lung disease.
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| 10. |
- Olsson, A., et al.
(författare)
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HRQoL and psychosocial aspects of burden on caregivers to children with moderate or severe von Willebrand disease
- 2023
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Ingår i: Haemophilia. - 1351-8216. ; 29:4, s. 1056-1062
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Tidskriftsartikel (refereegranskat)abstract
- IntroductionVon Willebrand disease (VWD) is the most widespread congenital bleeding disorder. Caregivers are highly involved in its treatment, and from the time of the child's bleeding diagnosis, they face new demands such as recognition of bleeds and treatment options. AimThe aim of this study was to assess Health related quality of life (HRQoL) in caregivers of children with moderate and severe VWD in Sweden, and to describe the impact of psychosocial aspects on the burden. MethodsA multicentre, cross-sectional study. The Short Form 36 Health Survey (SF-36) was used to assess HRQoL. Caregiver burden was measured using The HEMOphilia associated Caregiver Burden scale (HEMOCAB). Children ' s clinical data were collected from the Swedish national registry for bleeding disorders. ResultsSeventy caregivers of children with moderate or severe VWD were included. Caregivers of children with moderate VWD scored significantly lower in the mental health domains on SF-36, compared to matched normative data. Psychosocial aspects that significantly impacted the caregiver burden negatively measured by HEMOCAB total score were: if the caregiver reported that VWD affected their life in general (p = .001), if the child was absent from preschool/school >= 2 day/12 months due to VWD (p = .002) or that VWD had a financial impact on the family (p = .001). ConclusionThis study contributes to knowledge about caregivers' HRQoL and highlights the situation of caregivers of children with moderate VWD. Furthermore, the caregiver burden was negatively affected by psychosocial aspects. Clinical follow-ups should include assessment of psychosocial aspects to identify caregivers that are at risk of high burden.
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| 11. |
- Rosado, M. M., et al.
(författare)
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Spleen development is modulated by neonatal gut microbiota
- 2018
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Ingår i: Immunology Letters. - : Elsevier BV. - 0165-2478. ; 199, s. 1-15
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Tidskriftsartikel (refereegranskat)abstract
- The full development of the mammalian immune system occurs after birth upon exposure to non self-antigens. The gut is the first site of bacterial colonization where it is crucial to create the appropriate microenvironment able to balance effector or tolerogenic responses to external stimuli. It is a well-established fact that at mucosal sites bacteria play a key role in developing the immune system but we ignore how colonising bacteria impact the maturation of the spleen. Here we addressed this issue. Taking advantage of the fact that milk SIgA regulates bacterial colonization of the newborn intestine, we generated immunocompetent mice born either from IgA pro-efficient or IgA deficient females. Having demonstrated that SIgA in maternal milk modulates neonatal gut microbiota by promoting an increased diversity of the colonizing species we also found that immunocompetent pups, not exposed to milk SIgA, fail to properly develop the FDC network and primary follicles in the spleen compromising the response to T-dependent antigens. The presence of a less diverse microbiota with a higher representation of pathogenic species leads to a fast replenishment of the marginal zone and the IgM plasma cell compartment of the spleen as well as IgA plasma cells in the gut. © 2018 European Federation of Immunological Societies
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| 12. |
- Steen Carlsson, K, et al.
(författare)
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People with Haemophilia and Female Carriers in Sweden have a Higher Risk of Developing Anxiety, Depression and Pain Based on Treatment Patterns as Compared to Matched Controls: Data from a Registry Study over a Period of 11 Years
- 2019
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Ingår i: ISTH 2019 abstract OC 32.3.
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Konferensbidrag (refereegranskat)abstract
- Background: People with haemophilia (PwH) have increased risk of bleeds associated with acute and chronic pain, and long-term disability. Anxiety and depression are other determinants negatively affecting quality of life in PwH. Despite the severity of these co-morbidities, they have not been extensively investigated and associations between them even less. Aims: The MIND study (NCT03276130) aims to identify patterns of prescribed pain, anti-depressive and anti-anxiety medication and management of pain, depression and anxiety in PwH in four Nordic countries, based on patient registry data (A) and surveys (B). Here we describe current and retrospective treatment patterns of prescribed medication (part A) in PwH in Sweden, explore associations with the PwH background and complication characteristics, and compare prescribed medication use between PwH and the general population. Methods: This 11-year (2007-2017) retrospective population-based registry study, uses international classification systems for diagnoses, surgeries and medications. The study population includes all ages and was identified by diagnosis of haemophilia A or B, or at least one prescription of any factor VIII, IX, or bypassing agent. For each study subject, five age and gender-matched controls were included. Results: Data were extracted for 1550 PwH. The study population is shown in figure 1. The probability of being prescribed with analgesics, neuroleptics and anti-depressants in PwH compared to controls are shown in Table 1. Conclusions : A substantially higher prescription of analgesics in Swedish PwH as compared to controls suggests a need for increased focus on pain management including improved bleed protection and prevention of, e.g. arthropathy. The increased prescription of neurolep-tics and anti- depressants demonstrates that anxiety and depression are overrepresented in PwH and underscores the importance of identifying and managing the broad PwH population including non- frequent health care users. A similar prescription pattern was seen in female carriers suggesting a need for high medical attention and further research to address knowledge gaps.
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| 13. |
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| 14. |
- Berntorp, Erik, et al.
(författare)
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Centraliserad vård grundläggande i vårdprogram för blödarsjuka
- 1999
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Ingår i: Läkartidningen. - 0023-7205. ; 96:15, s. 1849-1852
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Tidskriftsartikel (refereegranskat)abstract
- Haemophilia is a rare and potentially life-threatening disease. In Sweden, with a population of approximately 8.5 million, about 350 people suffer from the more severe forms of haemophilia or von Willebrand disease. Meticulous management is important if the patients are to be spared chronic disability and serious treatment complications. The disease is lifelong and affects psychosocial aspects of life among patients and their families. With the help of a grant from the Swedish Board of Halth and Welfare, a care programme has been designed to guarantee Swedish haemophiliacs comparable and optimal care. The programme has been drawn up by representatives of the three haemophilia centres in Sweden (at University Hospital, Malmo, Sahlgrenska University Hospital, Gothenburg, and Karolinska Hospital, Stockholm) in co-operation with the World Federation of National Haemophilia Organisations. To ensure optimal individual application of the programme, individualised management strategies and patient information leaflets have been prepared.
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| 15. |
- Berntorp, Erik, et al.
(författare)
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Consensus perspectives on prophylactic therapy for haemophilia: summary statement.
- 2003
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Ingår i: Haemophilia. - : Wiley. - 1351-8216. ; 9:Suppl 1, s. 41278-41278
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Tidskriftsartikel (refereegranskat)abstract
- Participants in an international conference on prophylactic therapy for severe haemophilia developed a consensus summary of the findings and conclusions of the conference. In the consensus, participants agreed upon revised definitions for primary and secondary prophylaxis and also made recommendations concerning the need for an international system of pharmacovigilance. Considerations on starting prophylaxis, monitoring outcomes, and individualizing treatment regimens were discussed. Several research questions were identified as needing further investigation, including when to start and when to stop prophylaxis, optimal dosing and dose interval, and methods for assessment of long-term treatment effects. Such studies should include carefully defined cohorts, validated orthopaedic and quality-of-life assessment instruments, and cost-benefit analyses.
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| 16. |
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| 17. |
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| 18. |
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| 19. |
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| 20. |
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| 21. |
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| 22. |
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| 23. |
- Cristea-FernstrOm, M., et al.
(författare)
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Pyrosequencing of a short hypervariable 16S rDNA fragment for the identification of nontuberculous mycobacteria - A comparison with conventional 16S rDNA sequencing and phenotyping
- 2007
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Ingår i: Acta Pathologica, Microbiologica et Immunologica Scandinavica (APMIS). - : Wiley. - 0903-4641 .- 1600-0463. ; 115:11, s. 1252-1259
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Tidskriftsartikel (refereegranskat)abstract
- Conventional methods for identification of nontuberculous mycobacteria (NTM) are often inexact and time consuming. Sequencing of bacterial 16S rDNA is accurate, rapid and effective. We have retrospectively evaluated the discriminative power of pyrosequencing of a short hypervariable 16S rDNA fragment as a simple and rapid tool for NTM characterization. A series of 312 clinical NTM isolates, excluding the M. avium/intracellulare complex, was investigated. When species could not be resolved by sequencing alone, growth rate and pigment production were also examined. 54% (170/312) of the isolates were unambiguously identified by both methods. An additional 14% (45/312) were directly identified to species by conventional 16S rDNA sequencing but needed complementary phenotypic analysis when examined by pyrosequencing. The remaining 31% (97/312) needed additional phenotypic analysis for both sequencing methods. We consider the pyrosequencing procedure to be a useful alternative for the identification of several NTM species, and a versatile tool for the characterization of clinical NTM isolates. At times it requires additional tests for definite species diagnosis and correct identification. Copyright © Apmis 2007.
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| 24. |
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| 25. |
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| 26. |
- Globe, Dennis, et al.
(författare)
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Measuring patient-reported outcomes in haemophilia clinical research
- 2009
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Ingår i: Haemophilia. - : Wiley. - 1351-8216 .- 1365-2516. ; 15:4, s. 843-852
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Forskningsöversikt (refereegranskat)abstract
- Patient-reported outcome (PRO) measures have been used to assess quality of life and health state preferences from the patient's perspective. However, they have not been fully utilized in haemophilia clinical practice and research. A series of meetings were convened to review and document the state of the art in PROs relevant to haemophilia. Experts developed a process for selection of measures and identified published measures of health-related quality of life (HRQoL) relevant to patients with haemophilia. These were synthesized and reviewed. Patient preference measures were also identified and reviewed. Although the majority of measures were developed for and validated in adults, several measures were identified for use in paediatric populations. This paper recommends an approach to the selection of PROs for application in haemophilia clinical research and practice and identifies several potential measures relevant for application in haemophilia clinical research and practice.
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| 27. |
- Gretenkort Andersson, Nadine, et al.
(författare)
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Intracranial haemorrhage in children and adolescents with severe haemophilia A or B - the impact of prophylactic treatment
- 2017
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Ingår i: British Journal of Haematology. - : Wiley. - 0007-1048. ; 179:2, s. 298-307
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Tidskriftsartikel (refereegranskat)abstract
- The discussion of prophylactic therapy in haemophilia is largely focused on joint outcomes. The impact of prophylactic therapy on intracranial haemorrhage (ICH) is less known. This study aimed to analyse ICH in children with haemophilia, with a focus on different prophylaxis regimens and sequelae of ICH. We conducted a multicentre retrospective and prospective study that included 33 haemophilia centres from 20 countries. Inclusion criteria were children and adolescents born between 1993 and 2014, with severe haemophilia A or B without inhibitors. Participants were categorized by prophylaxis regimen: full, partial or none, based on dose and dose frequency of regular infusions. The cohort study included 1515 children: 29 cases of ICH over 8038 patient years were reported. The incidence of ICH in the prophylaxis group, 0·00033 cases of ICH/patient year, was significantly lower compared to the no prophylaxis group, 0·017 cases of ICH/patient year (RR 50·06; P < 0·001) and the partial prophylaxis group, 0·0050 cases of ICH/patient year (RR 14·92; P = 0·007). In the on-demand-group, 8% (2/24) children with ICH died and 33% had long-term sequelae, including intellectual and behavioural problems, paresis and epilepsy. Children on regular, frequent prophylaxis have a low risk of ICH compared to those using non-frequent or no prophylaxis.
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| 28. |
- Hoglund, L, et al.
(författare)
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Selective optical doping to predict the performance and reveal the origin of photocurrent peaks in quantum dots-in-a-well infrared photodetectors
- 2009
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Ingår i: INFRARED PHYSICS and TECHNOLOGY. - Exeter : Elsevier BV. - 1350-4495 .- 1879-0275. ; 52:6, s. 272-275
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Tidskriftsartikel (refereegranskat)abstract
- Resonant optical pumping across the band gap was used as artificial doping in InAs/In0.15Ga0.85As/GaAs quantum dots-in-a-well infrared photodetectors. Through efficient filling of the quantum dot energy levels by simultaneous optical pumping into the ground states and the excited states of the quantum dots, the response was increased by a factor of 10. Low temperature photocurrent peaks observed at 120 and 148 meV were identified as intersubband transitions emanating from the quantum dot ground state and the quantum dot excited state, respectively by a selective increase of the electron population in the different quantum dot energy levels.
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| 29. |
- Höglund, Linda, 1974-, et al.
(författare)
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Bias and temperature dependence of the escape processes in quantum dots-in-a-well infrared photodetectors
- 2008
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Ingår i: Applied Physics Letters. - New York : American Institute of Physics (AIP). - 0003-6951 .- 1077-3118. ; 93:10, s. 103501-
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Tidskriftsartikel (refereegranskat)abstract
- The performance of quantum dots-in-a-well infrared photodetectors (DWELL IPs) has been studied by means of interband and intersubband photocurrent measurements as well as dark current measurements. Using interband photocurrent measurements, substantial escape of electrons from lower lying states in the DWELL structure at large biases was revealed. Furthermore, a significant variation in the escape probability from energy states in the DWELL structure with applied bias was observed. These facts can explain the strong temperature and bias dependence of both photocurrent and dark currents in DWELL IPs.
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| 30. |
- Höglund, Linda, 1974-, et al.
(författare)
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Bias mediated tuning of the detection wavelength in asymmetrical quantum dots-in-a-well infrared photodetectors
- 2008
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Ingår i: Applied Physics Letters. - New York : AIP Publishing. - 0003-6951 .- 1077-3118. ; 93:20
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Tidskriftsartikel (refereegranskat)abstract
- Bias-mediated tuning of the detection wavelength within the infrared wavelength region is demonstrated for quantum dots-in-a-well and dots-on-a-well infrared photodetectors. By positioning the InAs quantum dot layer asymmetrically in an 8 nm wide In0.15Ga0.85As/GaAs quantum well, a shift in the peak detection wavelength from 8.4 to 10.3 mu m was observed when reversing the polarity of the applied bias. For a dots-on-a-well structure, the peak detection wavelength was tuned from 5.4 to 8 mu m with small changes in the applied bias. These tuning properties could be essential for applications such as modulators and dual-color infrared detection.
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| 31. |
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| 32. |
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| 33. |
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| 34. |
- Höglund, Linda, 1974-, et al.
(författare)
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Energy level scheme of InAs/InxGa1-xAs/GaAs quantum-dots-in-a-well infrared photodetector structures
- 2010
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Ingår i: Physical Review B. Condensed Matter and Materials Physics. - Woodbury, NY : American Physical Society. - 1098-0121 .- 1550-235X. ; 82:3, s. 035314-
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Tidskriftsartikel (refereegranskat)abstract
- A thorough investigation of quantum-dots-in-a-well structures for infrared photodetector applications has been performed employing different experimental techniques. The electronic structure of self-assembled InAs quantum dots embedded in an In0.15Ga0.85As/GaAs quantum well (QW) was deduced from photoluminescence (PL) and PL excitation (PLE) spectroscopy. From polarization-dependent PL it was revealed that the quantum dots hold two electron energy levels and two heavy-hole levels. Tunnel capacitance spectroscopy confirmed an electron energy level separation of about 50 meV, and additionally, that the conduction-band ground state and excited state of the dots are twofold and fourfold degenerates, respectively. Intersubband photocurrent spectroscopy, combined with simultaneous interband pumping of the dots, revealed a dominant transition at 150 meV (8.5 mu m) between the ground state of the quantum dots and the excited state of the QW. Results from detailed full three-dimensional calculations of the electronic structure, including effects of composition intermixing and interdot interactions, confirm the experimentally unravelled energy level scheme of the dots and well.
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| 35. |
- Höglund, Linda, 1974-, et al.
(författare)
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Optical pumping as artificial doping in quantum dots-in-a-well infrared photodetectors
- 2009
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Ingår i: Applied Physics Letters. - New York : AIP Publishing. - 0003-6951 .- 1077-3118. ; 94:5, s. 053503-
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Tidskriftsartikel (refereegranskat)abstract
- Resonant optical pumping across the band gap was used as artificial doping in InAs/In0.15Ga0.85As/GaAs quantum dots-in-a-well infrared photodetectors. By selectively increasing the electron population in the different quantum dot energy levels, the low temperature photocurrent peaks observed at 120 and 148 meV, could be identified as intersubband transitions emanating from the quantum dot ground state and the quantum dot excited state, respectively. With efficient filling of the quantum dot energy levels through simultaneous optical pumping into the ground states and the excited states of the quantum dots, the response was increased by a factor of 10.
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| 36. |
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| 37. |
- Höglund, Linda, 1974-, et al.
(författare)
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Optimising uniformity of InAs/(InGaAs)/GaAs quantum dots grown by metal organic vapor phase epitaxy
- 2006
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Ingår i: Applied Surface Science. - : Elsevier. - 0169-4332 .- 1873-5584. ; 252:15, s. 5525-5529
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Tidskriftsartikel (refereegranskat)abstract
- A route towards optimisation of uniformity and density of InAs/(InGaAs)/GaAs quantum dots grown by metal organic vapor phase epitaxy (MOVPE) through successive variations of the growth parameters is reported. It is demonstrated that a key parameter in obtaining a high density of quantum dots is the V/III ratio, a fact which was shown to be valid when either AsH3 (arsine) or tertiary-butyl-arsine (TBA) were used as group V precursors. Once the optimum V/III ratio was found, the size distribution was further improved by adjusting the nominal thickness of deposited InAs material, resulting in an optimum thickness of 1.8 monolayers of InAs in our case. The number of coalesced dots was minimised by adjusting the growth interruption time to approximately 30 s. Further, the uniformity was improved by increasing the growth temperature from 485 °C to 520 °C. By combining these optimised parameters, i.e. a growth temperature of 520 °C, 1.8 monolayers InAs thickness, 30 s growth stop time and TBA as group V precursor, a full-width-half-maximum (FWHM) of the low temperature luminescence band of 40 meV was achieved, indicating a narrow dot size distribution.
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| 38. |
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| 39. |
- Höglund, Linda, 1974-, et al.
(författare)
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Origin of photocurrent in lateral quantum dots-in-a-well infrared photodetectors
- 2006
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Ingår i: Applied Physics Letters. - New York : American Institute of Physics. - 0003-6951 .- 1077-3118. ; 88:21
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Tidskriftsartikel (refereegranskat)abstract
- Interband and intersubband transitions of lateral InAs/In0.15Ga0.85As dots-in-a-well quantum dot infrared photodetectors were studied in order to determine the origin of the photocurrent. The main intersubband transition contributing to the photocurrent (PC) was associated with the quantum dot ground state to the quantum well excited state transition. By a comparison between intersubband PC measurements and the energy level scheme of the structure, as deduced from Fourier transform photoluminescence (FTPL) and FTPL excitation spectroscopies, the main transition contributing to the PC was identified.
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| 40. |
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| 41. |
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| 42. |
- Höglund, Linda, et al.
(författare)
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Studies of photocurrent and dark current in quantum dots-in-a-well infrared photodetectors
-
Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- The performance of quantum dots-in-a-well infrared photodetectors (DWELL IPs) has been studied by means of interband and intersubband photocurrent measurements as well as dark current measurements. Using interband photocurrent measurements, substantial escape of electrons from lower lying states in the DWELL structure at large biases was revealed. Furthermore, a significant variation of the escape probability from energy states in the DVELL sturcture with voltage was observed. These facts could be possible explanations to the strong temperature and voltage dependence of hoth photocurrent and dark current in DWELL IPs. In a comparison between DWELL IPs and quantum well infrared photocdetectors (QWIPs), the dark current was shown to be considerably lower in DWELL IPs than in QWIPs, but alos the responsivity was low in comparison to QWIPs.
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