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  • Chahla, J., et al. (författare)
  • The posteromedial corner of the knee: an international expert consensus statement on diagnosis, classification, treatment, and rehabilitation
  • 2020
  • Ingår i: Knee Surgery, Sports Traumatology, Arthroscopy. - 0942-2056. ; 29:9, s. 2976-2986
  • Tidskriftsartikel (refereegranskat)abstract
    • Purpose: To establish recommendations for diagnosis, classification, treatment, and rehabilitation of posteromedial corner (PMC) knee injuries using a modified Delphi technique. Methods: A list of statements concerning the diagnosis, classification, treatment and rehabilitation of PMC injuries was created by a working group of four individuals. Using a modified Delphi technique, a group of 35 surgeons with expertise in PMC injuries was surveyed, on three occasions, to establish consensus on the inclusion or exclusion of each statement. Experts were encouraged to propose further suggestions or modifications following each round. Pre-defined criteria were used to refine item lists after each survey. The final document included statements reaching consensus in round three. Results: Thirty-five experts had a 100% response rate for all three rounds. A total of 53 items achieved over 75% consensus. The overall rate of consensus was 82.8%. Statements pertaining to PMC reconstruction and those regarding the treatment of combined cruciate and PMC injuries reached 100% consensus. Consensus was reached for 85.7% of the statements on anatomy of the PMC, 90% for those relating to diagnosis, 70% relating to classification, 64.3% relating to the treatment of isolated PMC injuries, and 83.3% relating to rehabilitation after PMC reconstruction. Conclusion: A modified Delphi technique was applied to generate an expert consensus statement concerning the diagnosis, classification, treatment, and rehabilitation practices for PMC injuries of the knee with high levels of expert agreement. Though the majority of statements pertaining to anatomy, diagnosis, and rehabilitation reached consensus, there remains inconsistency as to the optimal approach to treating isolated PMC injuries. Additionally, there is a need for improved PMC injury classification. Level of evidence: Level V. © 2020, European Society of Sports Traumatology, Knee Surgery, Arthroscopy (ESSKA).
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  • Ilinca, A., et al. (författare)
  • Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke
  • 2020
  • Ingår i: Stroke. - : American Heart Association. - 0039-2499 .- 1524-4628. ; 51:4, s. 1056-1063
  • Tidskriftsartikel (refereegranskat)abstract
    • Backgrounds and Purpose-Although new methods for genetic analyses are rapidly evolving, there are currently knowledge gaps in how to detect Mendelian forms of stroke. Methods-We performed whole-exome sequencing in 22 probands, under 56 years at their first ischemic stroke episode, from multi-incident stroke families. With the use of a comprehensive stroke-gene panel, we searched for variants in stroke-related genes. The probands' clinical stroke subtype was related to clinical characteristics previously associated with pathogenic variants in these genes. Relatives were genotyped in 7 families to evaluate stroke-gene variants of unknown significance. In 2 larger families with embolic stroke of unknown source, whole-exome sequencing was performed in additional members to examine the possibility of identifying new stroke genes. Results-Six of 22 probands carried pathogenic or possibly pathogenic variants in genes reported to be associated with their stroke subtype. A known pathogenic variant in NOTCH3 and a possibly pathogenic variant in ACAD9 gene were identified. A novel JAK2:c.3188G>A (p.Arg1063His) mutation was seen in a proband with embolic stroke of undetermined source and prothrombotic status. However, penetrance in the family was incomplete. COL4A2:c.3368A>G (p.Glu1123Gly) was detected in 2 probands but did not cosegregate with the disease in their families. Whole-exome sequencing in multiple members of 2 pedigrees with embolic stroke of undetermined source revealed possibly pathogenic variants in genes not previously associated with stroke, GPR142:c.148C>G (p.Leu50Val), and PTPRN2:c.2416A>G (p.Ile806Val); LRRC1 c.808A>G (p.Ile270Val), SLC7A10c.1294dupG (p.Val432fs), IKBKB: c.1070C>T (p.Ala357Val), and OXGR1 c.392G>A (p.Arg131His), respectively. Conclusions-Screening with whole-exome sequencing using a comprehensive stroke-gene panel may identify rare monogenic forms of stroke, but careful evaluation of clinical characteristics and potential pathogenicity of novel variants remain important. In our study, the majority of individuals with familial aggregation of stroke lacked any identified genetic causes.
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  • Bybrant, M. C., et al. (författare)
  • Celiac disease can be predicted by high levels of tissue transglutaminase antibodies in children and adolescents with type 1 diabetes
  • 2021
  • Ingår i: Pediatric Diabetes. - : Blackwell Publishing. - 1399-543X .- 1399-5448. ; 22:3, s. 417-424
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives Children with type 1 diabetes (T1D) are not included in guidelines regarding diagnosis criteria for celiac disease (CD) without a diagnostic biopsy, due to lack of data. We explored whether tissue transglutaminase antibodies (anti-tTG) that were >= 10 times the upper limit of normal (10x ULN) predicted CD in T1D. Methods Data from the Swedish prospective Better Diabetes Diagnosis study was used, and 2035 children and adolescents with T1D diagnosed between 2005-2010 were included. Of these, 32 had been diagnosed with CD before T1D. The children without CD were repeatedly screened for CD using anti-tTG antibodies of immunoglobulin type A. In addition, their human leukocyte antigen (HLA) were genotyped. All children with positive anti-tTG were advised to undergo biopsy. Biopsies were performed on 119 children and graded using the Marsh-Oberhuber classification. Results All of the 60 children with anti-tTG >= 10x ULN had CD verified by biopsies. The degree of mucosal damage correlated with anti-tTG levels. Among 2003 screened children, 6.9% had positive anti-tTG and 5.6% were confirmed CD. The overall CD prevalence, when including the 32 children with CD before T1D, was 7.0% (145/2035). All but one of the children diagnosed with CD had HLA-DQ2 and/or DQ8. Conclusions As all screened children and adolescents with T1D with tissue transglutaminase antibodies above 10 times the positive value 10x ULN had CD, we propose that the guidelines for diagnosing CD in screened children, when biopsies can be omitted, should also apply to children and adolescents with T1D as a noninvasive method.
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6.
  • Carlsson, A., et al. (författare)
  • Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY: Lessons From a 5-Year Pediatric Swedish National Cohort Study
  • 2020
  • Ingår i: Diabetes Care. - Arlington, VA, United States : American Diabetes Association. - 0149-5992 .- 1935-5548. ; 43:1, s. 82-89
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVE Identifying maturity-onset diabetes of the young (MODY) in pediatric populations close to diabetes diagnosis is difficult. Misdiagnosis and unnecessary insulin treatment are common. We aimed to identify the discriminatory clinical features at diabetes diagnosis of patients with glucokinase (GCK), hepatocyte nuclear factor-1A (HNF1A), and HNF4A MODY in the pediatric population. RESEARCH DESIGN AND METHODS Swedish patients (n = 3,933) aged 1–18 years, diagnosed with diabetes May 2005 to December 2010, were recruited from the national consecutive prospective cohort Better Diabetes Diagnosis. Clinical data, islet autoantibodies (GAD insulinoma antigen-2, zinc transporter 8, and insulin autoantibodies), HLA type, and C-peptide were collected at diagnosis. MODY was identified by sequencing GCK, HNF1A, and HNF4A, through either routine clinical or research testing. RESULTS The minimal prevalence of MODY was 1.2%. Discriminatory factors for MODY at diagnosis included four islet autoantibody negativity (100% vs. 11% not-known MODY; P = 2 × 10−44), HbA1c (7.0% vs. 10.7% [53 vs. 93 mmol/mol]; P = 1 × 10−20), plasma glucose (11.7 vs. 26.7 mmol/L; P = 3 × 10−19), parental diabetes (63% vs. 12%; P = 1 × 10−15), and diabetic ketoacidosis (0% vs. 15%; P = 0.001). Testing 303 autoantibody-negative patients identified 46 patients with MODY (detection rate 15%). Limiting testing to the 73 islet autoantibody-negative patients with HbA1c <7.5% (58 mmol/mol) at diagnosis identified 36 out of 46 (78%) patients with MODY (detection rate 49%). On follow-up, the 46 patients with MODY had excellent glycemic control, with an HbA1c of 6.4% (47 mmol/mol), with 42 out of 46 (91%) patients not on insulin treatment. CONCLUSIONS At diagnosis of pediatric diabetes, absence of all islet autoantibodies and modest hyperglycemia (HbA1c <7.5% [58 mmol/mol]) should result in testing for GCK, HNF1A, and HNF4A MODY. Testing all 12% patients negative for four islet autoantibodies is an effective strategy for not missing MODY but will result in a lower detection rate. Identifying MODY results in excellent long-term glycemic control without insulin.
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7.
  • Chahla, J., et al. (författare)
  • Posterolateral corner of the knee: an expert consensus statement on diagnosis, classification, treatment, and rehabilitation
  • 2019
  • Ingår i: Knee Surgery Sports Traumatology Arthroscopy. - 0942-2056. ; 27:8, s. 2520-2529
  • Tidskriftsartikel (refereegranskat)abstract
    • PurposeTo develop a statement on the diagnosis, classification, treatment, and rehabilitation concepts of posterolateral corner (PLC) injuries of the knee using a modified Delphi technique.MethodsA working group of three individuals generated a list of statements relating to the diagnosis, classification, treatment, and rehabilitation of PLC injuries to form the basis of an initial survey for rating by an international group of experts. The PLC expert group (composed of 27 experts throughout the world) was surveyed on three occasions to establish consensus on the inclusion/exclusion of each item. In addition to rating agreement, experts were invited to propose further items for inclusion or to suggest modifications of existing items at each round. Pre-defined criteria were used to refine item lists after each survey. Statements reaching consensus in round three were included within the final consensus document.ResultsTwenty-seven experts (100% response rate) completed three rounds of surveys. After three rounds, 29 items achieved consensus with over 75% agreement and less than 5% disagreement. Consensus was reached in 92% of the statements relating to diagnosis of PLC injuries, 100% relating to classification, 70% relating to treatment and in 88% of items relating to rehabilitation statements, with an overall consensus of 81%.ConclusionsThis study has established a consensus statement relating to the diagnosis, classification, treatment, and rehabilitation of PLC injuries. Further research is needed to develop updated classification systems, and better understand the role of non-invasive and minimally invasive approaches along with standardized rehabilitation protocols.Level of evidenceConsensus of expert opinion, Level V.
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8.
  • Janelidze, Shorena, et al. (författare)
  • Low IL-8 is associated with anxiety in suicidal patients: genetic variation and decreased protein levels.
  • 2015
  • Ingår i: Acta Psychiatrica Scandinavica. - : Wiley-Blackwell. - 1600-0447 .- 0001-690X. ; 131:4, s. 269-278
  • Tidskriftsartikel (refereegranskat)abstract
    • Recent studies indicate that inflammation may play a role in the pathophysiology of suicidality. Interleukin-8 (IL-8) is a chemokine that in addition to its function in the immune system also exert neuroprotective properties. The involvement of this chemokine in neuropsychiatric conditions is incompletely known.
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9.
  • Josefsson, Sarah, et al. (författare)
  • Capping Efficiency of Various Carbonaceous and Mineral Materials for In Situ Remediation of Polychlorinated Dibenzo-p-dioxin and Dibenzofuran Contaminated Marine Sediments : Sediment-to-Water Fluxes and Bioaccumulation in Boxcosm Tests
  • 2012
  • Ingår i: Environmental Science and Technology. - : American Chemical Society (ACS). - 0013-936X .- 1520-5851. ; 46:6, s. 3343-3351
  • Tidskriftsartikel (refereegranskat)abstract
    • The efficiency of thin-layer capping in reducing sediment-to-water fluxes and bioaccumulation of polychlorinated dibenzo-p-dioxins and dibenzofurans, hexachlorobenzene, and octachlorostyrene was investigated in a boxcosm experiment. The influence of cap thickness (0.5-5 cm) and different cap materials was tested using a three-factor experimental design. The cap materials consisted of a passive material (coarse or fine limestone or a marine clay) and an active material (activated carbon (AC) or kraft lignin) to sequester the contaminants. The cap thickness and the type of active material were significant factors, whereas no statistically significant effects of the type of passive material were observed. Sediment-to-water fluxes and bioaccumulation by the two test species, the surface-dwelling Nassarius nitidus and the deep-burrowing Nereis spp., decreased with increased cap thickness and with addition of active material. Activated carbon was more efficient than lignin, and a ∼90% reduction of fluxes and bioaccumulation was achieved with 3 cm caps with 3.3% AC. Small increases in fluxes with increased survival of Nereis spp. indicated that bioturbation by Nereis spp. affected the fluxes.
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10.
  • Raymond, C., et al. (författare)
  • Impaired benthic macrofauna function 4 years after sediment capping with activated carbon in the Grenland fjords, Norway
  • 2020
  • Ingår i: Environmental Science and Pollution Research. - 0944-1344 .- 1614-7499. ; 28, s. 16181-97
  • Tidskriftsartikel (refereegranskat)abstract
    • The sediments in the Grenland fjords in southern Norway are heavily contaminated by large emissions of dioxins and mercury from historic industrial activities. As a possible in situ remediation option, thin-layer sediment surface capping with powdered activated carbon (AC) mixed with clay was applied at two large test sites (10,000 and 40,000 m(2)) at 30-m and 95-m depths, respectively, in 2009. This paper describes the long-term biological effects of the AC treatment on marine benthic communities up to 4 years after treatment. Our results show that the capping with AC strongly reduced the benthic species diversity, abundance, and biomass by up to 90%. Vital functions in the benthic ecosystem such as particle reworking and bioirrigation of the sediment were also reduced, analyzed by using novel bioturbation and bioirrigation indices (BPc, BIPc, and IPc). Much of the initial effects observed after 1 and 14 months were still present after 49 months, indicating that the effects are long-lasting. These long-lasting negative ecological effects should be carefully considered before decisions are made on sediment remediation with powdered AC, especially in large areas, since important ecosystem functions can be impaired.
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