| 11. |
- Berg, Stefan, 1959, et al.
(författare)
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Irregular Recurrent Fever : Chapter 113
- 2019
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Ingår i: Pediatric Immunology. A Case-Based Collection with MCQs. Nima Rezaei (red.). - Cham : Springer Nature Switzerland AG. - 9783030212629 ; , s. 617-621
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Non-classifiable periodic fever syndromes are common Patients may have recurrent fevers or continuous chronic inflammation, together with different combinations of arthralgia/arthritis, mouth ulcers, lymphadenopathies, conjunctivitis, rashes, pleuritic pain, splenomegaly, hepatomegaly and abdominal pain Inheritance varies from no apparent pattern to autosomal dominant inheritance Many patients respond to colchicine as a reasonable first-line treatment
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| 12. |
- Berg, Stefan, 1959, et al.
(författare)
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Long Episodes of Rash and Fever : Chapter 100
- 2019
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Ingår i: Pediatric Immunology : A Case-Based Collection with MCQs, Volume 2. Rezaei, N. (red.). - Switzerland AG : Springer Nature. - 9783030212629 ; , s. 527-531
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 13. |
- Berg, Stefan, 1959, et al.
(författare)
-
Rash and Fever since Two Weeks of Age : Chapter 102
- 2019
-
Ingår i: Pediatric Immunology. A Case-Based Collection with MCQs. Rezaei, N. (red.). - Cham : Springer Nature. - 9783030212629 ; , s. 539-543
-
Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Cryopyrin-associated periodic syndrome (CAPS) is an umbrella term today used for three formerly described conditions in order of increasing severity familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and chronic infantile neurologic cutaneous and articular syndrome (CINCA), also known as neonatal-onset multisystem inflammatory disease (NOMID) CAPS is an autosomal dominant disease that starts early in life Mutations in CAPS give rise to a gain-of-function in the NLRP3 inflammasome Somatic mosaicism should be considered in patients with clinical CAPS and no mutation detected in the NLRP3 with Sanger sequencing CAPS is characterized by a varying degree of systemic inflammation, urticaria-like rash, musculoskeletal symptoms, and a risk of amyloidosis and neurologic sequelae Treatment with IL-1 blockade is generally very effective in CAPS
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| 14. |
- Berg, Stefan, 1959, et al.
(författare)
-
Sudden Dizziness, Somnolence and Diplopia : Chapter 111
- 2019
-
Ingår i: Pediatric Immunology. A Case-Based Collection with MCQs.. - Cham : Springer Nature. - 9783030212629 ; , s. 603-609
-
Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Deficiency of adenosine deaminase 2 (DADA2) is a autosomal recessive disease caused by mutations in CECR1 Mutations in CECR1 cause a deficiency of the enzyme adenosine deaminase type 2 (ADA2) DADA2 phenotype has a wide spectrum and is characterized by the presence of three main features: (1) vascular inflammation, (2) immunodeficiency, and (3) coagulopathy, that may or may not overlap in the individual patient The vascular-inflammatory manifestations include livedo reticularis/racemosa, stroke, vasculitis, recurrent fever episodes and increased inflammatory markers The risk for stroke is high in DADA2 The phenotype may be almost indistinguishable to polyarteritis nodosa (PAN) TNF-blockade is an effective treatment for the vasculitis and inflammatory manifestations Patients with severe disease especially with hematological manifestations and immunodeficiency may benefit from HSCT
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| 15. |
- Björnsdottir, Halla, et al.
(författare)
-
Neutrophil NET formation is regulated from the inside by myeloperoxidase-processed reactive oxygen species.
- 2015
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Ingår i: Free radical biology & medicine. - : Elsevier BV. - 1873-4596 .- 0891-5849. ; 89, s. 1024-1035
-
Tidskriftsartikel (refereegranskat)abstract
- Neutrophil extracellular traps (NETs) are mesh-like DNA fibers clad with intracellular proteins that are cast out from neutrophils in response to certain stimuli. The process is thought to depend on reactive oxygen species (ROS) generated by the phagocyte NADPH-oxidase and the ROS-modulating granule enzyme myeloperoxidase (MPO), but when, how, and where these factors contribute is so far uncertain. The neutrophil NADPH-oxidase can be activated at different cellular sites and ROS may be produced and processed by MPO within intracellular granules, even in situations where a phagosome is not formed, e.g., upon stimulation with phorbol myristate acetate (PMA).
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| 16. |
- Browall, Sarah, et al.
(författare)
-
Clinical manifestations of invasive pneumococcal disease by vaccine and non-vaccine types
- 2014
-
Ingår i: European Respiratory Journal. - : European Respiratory Society. - 0903-1936 .- 1399-3003. ; 44:6, s. 1646-1657
-
Tidskriftsartikel (refereegranskat)abstract
- Pneumococcal conjugated vaccines (PCVs) have shown protection against invasive pneumococcal disease by vaccine serotypes, but an increase in non-vaccine serotype disease has been observed. Type-specific effects on clinical manifestation need to be explored.Clinical data from 2096 adults and 192 children with invasive pneumococcal disease were correlated to pneumococcal molecular serotypes. Invasive disease potential for pneumococcal serotypes were calculated using 165 invasive and 550 carriage isolates from children.The invasive disease potential was lower for non-PCV13 compared to vaccine-type strains. Patients infected with non-PCV13 strains had more underlying diseases, were less likely to have pneumonia and, in adults, tended to have a higher mortality. Furthermore, patients infected with pneumococci belonging to clonal serotypes only expressing non-PCV13 capsules had a higher risk for septicaemia and mortality.PCV vaccination will probably lead to a decrease in invasive pneumococcal disease but an alteration in the clinical manifestation of invasive pneumococcal disease. Genetic lineages causing invasive pneumococcal disease in adults often express non-vaccine serotypes, which can expand after vaccination with an increased risk of infection in patients with underlying diseases.
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| 17. |
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| 18. |
- Brown, Kelly, 1973, et al.
(författare)
-
Profile of blood cells and inflammatory mediators in periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.
- 2010
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Ingår i: BMC pediatrics. - : Springer Science and Business Media LLC. - 1471-2431. ; 10
-
Tidskriftsartikel (refereegranskat)abstract
- ABSTRACT: BACKGROUND: This study aimed to profile levels of blood cells and serum cytokines during afebrile and febrile phases of periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome to advance pathophysiological understanding of this pediatric disease. METHODS: A cohort of patients with a median age of 4.9 years experiencing 'typical PFAPA' episodes participated in this study. Blood cells and serum cytokines were analyzed by CBC analysis and multiplex ELISA. RESULTS: Oscillations in the concentration of blood cells during the afebrile and febrile phases of typical PFAPA syndrome were observed; novel findings include increased monocytes and decreased eosinophils during a febrile episode and increased thrombocytes in the afebrile interval. Relatively modest levels of pro-inflammatory cytokines were present in sera. IFNγ-induced cytokine IP10/CXCL10 was increased after the onset of fever while T cell-associated cytokines IL7 and IL17 were suppressed during afebrile and febrile periods. CONCLUSIONS: Identification of dysregulated blood cells and serum cytokines is an initial step towards the identification of biomarkers of PFAPA disease and/or players in disease pathogenesis. Future investigations are required to conclusively discern which mediators are associated specifically with PFAPA syndrome.
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| 19. |
- Cooray, S., et al.
(författare)
-
Anti-tumour necrosis factor treatment for the prevention of ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2)
- 2021
-
Ingår i: Rheumatology. - : Oxford University Press (OUP). - 1462-0324 .- 1462-0332. ; 60:9, s. 4373-4378
-
Tidskriftsartikel (refereegranskat)abstract
- Objective To evaluate the impact of anti-Tumour Necrosis Factor-alpha (anti-TNF) treatment on the occurrence of vasculitic ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2). Methods A retrospective analysis of DADA2 patients referred from six centres to Great Ormond Street Hospital for Children was conducted. Ischaemic events, vasculitic disease activity, biochemical, immunological, and radiological features were compared, before and after anti-TNF treatment. Results A total of 31 patients with genetically confirmed DADA2 were included in the study. The median duration of active disease activity prior to anti-TNF treatment was 73months (inter-quartile range [IQR] 27.5-133.5months). Twenty seven/31 patients received anti-TNF treatment for a median of 32months (IQR 12.0-71.5months). The median event rate of central nervous system (CNS) and non-CNS ischemic events before anti-TNF treatment was 2.37 per 100 patient-months (IQR 1.25-3.63); compared with 0.00 per 100 patient-months (IQR 0.0-0.0) post-treatment (p< 0.0001). Paediatric vasculitis activity score (PVAS) was also significantly reduced: median score of 20/63 (IQR 13.0-25.8/63) pre-treatment vs. 2/63 (IQR 0.0-3.8/63) following anti-TNF treatment (p< 0.0001), with mild livedoid rash being the main persisting feature. Anti-TNF treatment was not effective for severe immunodeficiency or bone marrow failure, which required haematopoietic stem cell transplantation (HSCT). Conclusion Anti-TNF treatment significantly reduced the incidence of ischaemic events and other vasculitic manifestations of DADA2, but was not effective for immunodeficiency or bone marrow failure.
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| 20. |
- Galeotti, L, et al.
(författare)
-
Circulating survivin indicates severe course of juvenile idiopathic arthritis.
- 2008
-
Ingår i: Clinical and experimental rheumatology. - 0392-856X. ; 26:2, s. 373-8
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Survivin is an anti-apoptotic protein that has been recently suggested as a predictive marker of joint destruction in adult rheumatoid arthritis. We assessed the presence of extracellular survivin in patients with juvenile idiopathic arthritis (JIA). METHODS: Survivin levels were assessed in the circulation of 46 patients with JIA and in the age- and gender-matched controls (n=46) having no inflammatory disease, by ELISA. Survivin levels were analyzed with respect to the onset type and the activity of the joint disease. The intensity of inflammation and cartilage turnover was measured as levels of IL-6, serum amyloid A protein (SAA), and cartilage oligomeric matrix protein (COMP), respectively. RESULTS: The levels of extracellular survivin were significantly higher in JIA compared to the controls (p=0.0002). High levels of survivin (above mean + 2SD of the controls) were detected in 8/46 (17% JIA patients. High survivin expression was associated with polyarticular onset, active phase of arthritis. In contrast, survivin was neither related to the levels of IL-6, SAA, nor to COMP. CONCLUSION: Circulating survivin is expressed in a significant group of patients with JIA being associated to a severe course of the disease. It may be potentially used to select children with unfavorable prognosis of JIA who are in need of active pharmacologic treatment.
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