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  • Askmyr, Maria K, et al. (creator_code:aut_t)
  • Towards a better understanding and new therapeutics of osteopetrosis.
  • 2008
  • record:In_t: British journal of haematology. - : Wiley. - 1365-2141 .- 0007-1048. ; 140:6, s. 597-609
  • swepub:Mat_researchreview_t (swepub:level_refereed_t)abstract
    • Lack of or dysfunction in osteoclasts result in osteopetrosis, a group of rare but often severe, genetic disorders affecting skeletal tissue. Increase in bone mass results in skeletal malformation and bone marrow failure that may be fatal. Many of the underlying defects have lately been characterized in humans and in animal models of the disease. In humans, these defects often involve mutations in genes expressing proteins involved in the acidification of the osteoclast resorption compartment, a process necessary for proper bone degradation. So far, the only cure for children with severe osteopetrosis is allogeneic hematopoietic stem cell (HSC) transplantation but without a matching donor this form of therapy is far from optimal. The characterization of the genetic defects opens up the possibility for gene replacement therapy as an alternative. Accordingly, HSC-targeted gene therapy in a mouse model of infantile malignant osteopetrosis was recently shown to correct many aspects of the disease.
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3.
  • Askmyr, Maria, et al. (creator_code:aut_t)
  • Prospects for gene therapy of osteopetrosis.
  • 2009
  • record:In_t: Current gene therapy. - 1566-5232. ; 9:3, s. 150-9
  • swepub:Mat_researchreview_t (swepub:level_refereed_t)abstract
    • Dysfunction in or lack of osteoclasts result in osteopetrosis, a group of rare but often severe, genetic disorders characterized by an increase in bone mass, skeletal malformations and bone marrow failure that may be fatal. Several of the underlying defects have lately been characterized in humans and in animal disease models. In humans, these defects often involve mutations in genes expressing proteins involved in the acidification of the osteoclast sub-cellular compartment, a process necessary for proper bone resorption. So far, the only cure for children with severe osteopetrosis is allogeneic hematopoietic stem cell transplantation (SCT). However, the characterization of the genetic defects opens up the possibility for gene replacement therapy as an alternative to SCT. Recently, gene therapy targeting hematopoietic stem cells (HSC) in a mouse model of infantile malignant osteopetrosis was shown to correct many aspects of the disease. Here we review important aspects of this group of diseases and discuss the prospects for development of gene therapy of osteopetrosis.
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5.
  • Laurell, Louise, 1959, et al. (creator_code:aut_t)
  • Imaging in juvenile idiopathic arthritis with a focus on ultrasonography.
  • 2013
  • record:In_t: Clinical and experimental rheumatology. - 0392-856X .- 1593-098X. ; 31:1, s. 135-48
  • swepub:Mat_researchreview_t (swepub:level_refereed_t)abstract
    • Early therapeutic intervention and use of new highly efficacious treatments have improved the outcome in many patients with juvenile idiopathic arthritis (JIA), but have also led to the need for more precise methods to evaluate disease activity. In adult rheumatology, numerous studies have established the importance of magnetic resonance imaging (MRI) and ultrasonography (US), and MRI is considered the reference standard. Nevertheless, due to differences in disease characteristics and the unique features of the growing skeleton, the findings obtained in adults are not directly applicable to children and adolescents. For paediatric patients, US offers specific advantages over MRI, because it is non-invasive, does not require sedation or general anesthesia (which facilitates repeated examinations for follow-up), is quickly accessible bedside, and is easy to combine with clinical assessment (interactivity). Agitation of the patient is rarely a problem, and hence young children can be seated on a parent's lap or play while being examined, and multiple locations can be assessed during a single session. Furthermore, modern high-frequency US transducers used by experienced US examiners can provide unsurpassed resolution of the superficial musculoskeletal structures in children. US is also the best available technique for imaging guidance of steroid injections. Unfortunately, there are still no validated MRI or US scoring systems for evaluating inflammatory and joint damage abnormalities in JIA, and few US studies have been conducted. Sonographic assessment of disease activity has, however, been proven to be more informative than clinical examination and is also readily available at points of care. This review summarises the literature on imaging in JIA, focusing on US and the important role this technique will play in JIA in the future.
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6.
  • Milner, Joshua D, et al. (creator_code:aut_t)
  • Autoimmunity in severe combined immunodeficiency (SCID): lessons from patients and experimental models.
  • 2008
  • record:In_t: Journal of clinical immunology. - : Springer Science and Business Media LLC. - 0271-9142 .- 1573-2592. ; 28 Suppl 1, s. S29-33
  • swepub:Mat_researchreview_t (swepub:level_refereed_t)abstract
    • Autoimmunity is observed in many immunodeficiencies and is thought to be mediated mainly by persistent infection. Severe combined immunodeficiency (SCID) is the most severe form of immunodeficiency and is also on occasion associated with autoimmune phenomena, usually in the form of the Omenn's Syndrome phenotype. Recent studies both in human and mice shed light into the pathogenesis of these two seemingly different conditions occurring together. Central tolerance, which is in charge of elimination of autoreactive T-cell clones, is defective in SCID because of markedly reduced expression of Aire, a transcriptional regulator for the expression of tissue-specific antigens in the thymus. Peripheral tolerance is also markedly decreased in SCID because of several factors including the expansion of T-cell clones as a consequence of the lymphopenia observed in these condition as well as a diminished number of T regulatory (FOXP3+)cells, allowing autoreactive T cells to proliferate and infiltrate various organs in the body of SCID. It is thus of no surprise when both central and peripheral tolerance are impaired that autoimmunity can be observed in SCID.
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7.
  • Rydenman, Karin, 1982, et al. (creator_code:aut_t)
  • PFAPA syndrome - An important differential diagnosis in children with recurrent fever : PFAPA-syndrom – en viktig differential­diagnos hos barn med återkommande feberepisoder.
  • 2019
  • record:In_t: Läkartidningen. - 1652-7518. ; 116
  • swepub:Mat_researchreview_t (swepub:level_refereed_t)abstract
    • Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA) syndrome is the most common autoinflammatory disorder among children in many parts of the world and an important differential diagnosis in children presenting with recurrent fever episodes. Commonly, PFAPA has an onset under the age of 5 years. Fever episodes in PFAPA usually last 3-6 days and are associated with one or more of the cardinal symptoms aphthous stomatitis, pharyngitis and cervical adenitis. The fever episodes typically recur with an interval of 3-6 weeks, often with a striking regularity. During the episodes, the patient has elevated inflammatory variables such as CRP and serum amyloid A (SAA) and may sometimes have additional symptoms such as abdominal pain, nausea and leg pain. Between the fever episodes, the patient is typically free of symptoms with normalized inflammatory variables and grows normally. Awareness and recognition of PFAPA is key to providing the patient with adequate treatment and avoiding misdiagnosis.
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8.
  • Wekell, Per, et al. (creator_code:aut_t)
  • Familial mediterranean fever – An important disease in a globalised world : Familjär medelhavsfeber - viktig sjukdom i en globaliserad värld - Särskilt vanlig hos personer från östra Medelhavsområdet.
  • 2016
  • record:In_t: Läkartidningen. - 1652-7518. ; 113
  • swepub:Mat_researchreview_t (swepub:level_refereed_t)abstract
    • Familial Mediterranean fever - an important disease in a globalised world Familial Mediterranean fever (FMF) is characterized by recurrent febrile attacks during 1/2-3 days associated with peritonitis, pleuritis and arthritis. FMF is the most common monogenic autoinflammatory disease in the world, with over 100 000 affected individuals. It is particularly common in individuals with an origin in the eastern Mediterranean Basin, where the disease has a prevalence of 100-200 per 100 000. The gene for FMF (MEFV) was identified in 1997 with an autosomal recessive inheritance; however, a significant proportion (≈25%) of clinical patients lack two mutations. MEFV codes for the protein pyrin, whose exact function still needs to be defined. The most serious complication of FMF is amyloid A amyloidosis, in particular renal amyloidosis. FMF is efficiently treated with daily doses of colchicine resulting in an almost normal life expectancy and amyloidosis confined to non-compliant patients. In today's globalized world we need to adapt to a new context that includes inherited conditions, which have historically been uncommon in our part of the world. One of these conditions is FMF, that should primarily be suspected in individuals with an origin in the eastern Mediterranean Basin and recurrent attacks of fever.
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9.
  • Wekell, Per, et al. (creator_code:aut_t)
  • Review of autoinflammatory diseases, with a special focus on periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome.
  • 2016
  • record:In_t: Acta paediatrica (Oslo, Norway : 1992). - : Wiley. - 1651-2227 .- 0803-5253. ; 105:10, s. 1140-51
  • swepub:Mat_researchreview_t (swepub:level_refereed_t)abstract
    • There have been remarkable developments in the field of autoinflammatory diseases over the last 20 years. Research has led to definitions of new conditions, increased understanding of disease mechanisms and specific treatment. The polygenic autoinflammatory condition of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) is the most common autoinflammatory disorder among children in many parts of the world. The clinical features often include clockwork regularity of episodes, prompt responses to corticosteroids and therapeutic effects of tonsillectomy, but the disease mechanisms are largely unknown.
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10.
  • Wennerholm, Ulla-Britt, 1948, et al. (creator_code:aut_t)
  • Timing of umbilical cord clamping for neonatal and maternal outcomes
  • 2012
  • record:In_t: Health Technology Assessment, HTA center Region Västra Götaland. ; :48, s. 1-51
  • swepub:Mat_researchreview_t (swepub:level_refereed_t)abstract
    • Method and patient group Late versus early clamping of the umbilical cord- maternal and infant effects Question at issue Is early umbilical cord clamping not different from or better than late umbilical cord clamping regarding postpartum infant iron deficiency and iron deficiency anaemia variables, long-term cognitive function, loss of stem cells, maternal postpartum haemorrhage, manual removal of retained placenta and correct sampling for blood gas analysis? Studied risks and benefits for patients of the new health technology Level of evidence: The literature search identified four studies that fulfilled the selection criteria; a systematic review (SR) and three subsequently published randomised controlled trials (RCTs). The definition of early cord clamping varied from within 10 to < 60 sec between studies. The SR was methodologically of high quality but included mainly studies with high risk of bias. One of the RCTs was of high and the others of low quality. Infant outcomes O1 No studies evaluated cognitive function or loss of stem cells. Conclusions: There is some support for an increased risk of immediate anaemia (6.3% vs 1.2%) (GRADE ⊕⊕??) and support for lower immediate Hb (mean difference 18g/l) and haematocrit (GRADE ⊕⊕⊕?) with early as compared with late clamping. There is support for little or no difference regarding these outcomes at long-term (at 2 to 6 months of age) (GRADE ⊕⊕⊕?). There is some support for an increased risk of long-term iron deficiency (5.7% vs. 0.6%) (GRADE ⊕⊕??) and support for lower long-term ferritin levels (GRADE ⊕⊕⊕?). There is some support for little or no difference regarding jaundice requiring phototherapy and a low Apgar score (<7 at 5 min) (GRADE⊕⊕??) and insufficient support for an effect on the need for admittance to special baby care nursery or neonatal intensive care unit (GRADE ⊕???) ). Maternal outcomes O2 There is some support for little or no difference regarding severe postpartum bleeding (GRADE ⊕⊕??) and insufficient support for an effect on the need for manual removal of placenta (GRADE ⊕??? ).. Methodological outcome O3 There is insufficient scientific documentation to evaluate the rate of correct sampling for cord blood acid-base and gas analysis after early versus late clamping. Ethical questions Is early cord clamping of the healthy term neonate ethically acceptable in view of unknown long-term infant risks regarding cognitive function? Presently, late cord clamping does not allow cord blood collection. Future research may identify optimal timing of cord clamping, to resolve these ethical issues. Economical aspects There are no reasons to believe that initial costs are different.
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