| 1. |
- Adam, A, et al.
(författare)
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Abstracts from Hydrocephalus 2016.
- 2017
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Ingår i: Fluids and Barriers of the CNS. - : Springer Science and Business Media LLC. - 2045-8118. ; 14:Suppl 1
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Tidskriftsartikel (refereegranskat)
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| 2. |
- Jester, S., et al.
(författare)
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Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome
- 2013
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Ingår i: Orphanet Journal of Rare Diseases. - : Springer Science and Business Media LLC. - 1750-1172. ; 8:134
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Tidskriftsartikel (refereegranskat)abstract
- Background: Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive progressive multiorgan disorder due to mutation in the gene encoding the enzyme Arylsulfatase B (ARSB). Dysfunctional ARSB causes lysosomal accumulation of glycosaminoglycans (GAG). Currently, enzyme replacement therapy (ERT) is preferred to hematopoietic stem cell transplantation (SCT) due to the treatment-related risks of the latter. However, ERT constitutes an expensive life-long treatment. Increased experience and safety of SCT-procedures in recent years suggest that SCT should be further explored as a treatment option. This is the first report on haploidentical SCT in patients with MPS VI. The primary objective was to assess the treatment safety and clinical and biochemical outcome. Patients and methods: Two siblings diagnosed with MPS VI at 10 months of age and at birth with genotype p. C192R, reported as mild to intermediate phenotype, underwent unrelated umbilical cord blood transplantation pre-symptomatic. Due to graft failure, both patients were urgently re-transplantated with haploidentical SCT with the father as donor. Continuous clinical and biochemical status was monitored and concluded 3.8 and 4.6 years after the haploidentical SCT. Results: Haploidentical SCT resulted in prompt and sustained engraftment. Complete donor chimerism was achieved in both patients, apart from mixed B cells chimerism in patient 2. ARSB activity in leukocytes post transplant increased from 0.0 to 19.0 mu kat/kg protein (patient 1) and from 3.6 to 17.9 mu kat/kg protein (patient 2) (ref. 17-40). Total urinary GAG normalized in both patients, although patient 2's values slightly exceed normal range since 6 months. However, dermatan sulfaturia was substantially normalized since 16 months and 12 months post-SCT, respectively. Height was -1.85 SD and -1.27 SD at follow-up. Patient 1 had impaired visual acuity and discrete hepatomegaly. Patient 2 had elevated intraocular pressure and X-ray revealed steep acetabular angles and slightly flattened lumbar vertebrae. Conclusion: This study demonstrates that young children with MPS VI tolerate haploidentical SCT. Normalization of enzyme production and dermatan sulfaturia indicates correction of the inborn error of metabolism and coincide with no obvious symptoms of progressive MPS VI up to 4.6 years post-SCT.
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| 3. |
- Orfanos, I., et al.
(författare)
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Management and Outcome of Febrile Infants <= 60 days, With Emphasis on Infants <= 21 Days Old, in Swedish Pediatric Emergency Departments
- 2022
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Ingår i: Pediatric Infectious Disease Journal. - : Ovid Technologies (Wolters Kluwer Health). - 0891-3668. ; 41:7, s. 537-543
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Tidskriftsartikel (refereegranskat)abstract
- Background: Management of febrile infants <= 60 days of age varies, and the age for routine investigations and antibiotic-treatment is debated. The American Academy of Pediatrics recommended age threshold for lumbar puncture (LP) is 21 days and for blood culture 60 days. We describe management and adverse outcome of febrile infants <= 60 days old, in Sweden. Methods: Retrospective cross-sectional study of infants <= 60 days of age with fever without source evaluated in 4 University pediatric emergency departments, between 2014 and 2017. Adverse outcome was defined as delayed-treated invasive bacterial infection (IBI: meningitis or bacteremia). Results: We included 1701 infants. In infants <= 21 days old, LP was performed in 16% (95% CI: 12-20) and blood culture in 43% (95% CI: 38-48). Meningitis was diagnosed in 5 (1.3%; 95% CI: 0.4-3.0) and bacteremia in 12 (4.5%; 95% CI: 2.6-7.0) infants. Broad-spectrum antibiotics were not administered to 66% (95% CI: 61-71), of which 2 (0.8%; 95% CI: 0.1-2.8) diagnosed with IBI (1 meningitis and 1 bacteremia). In the 29-60 days age group, blood culture was performed in 21% (95% CI: 19-24), and broad-spectrum antibiotics were not administered to 84% (95% CI: 82-86), with no case of delayed-treated bacteremia. Conclusions: The rates of LP, blood culture and broad-spectrum antibiotics were low. Despite that, there were few delayed-treated IBIs, but 2 of the 17 infants <= 21 days of age with IBI were not timely treated, which prompts the need for a safer approach for this age group. Also, the utility of routine blood culture for all febrile infants 29-60 days old could be questioned.
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| 4. |
- Smedby, Örjan, et al.
(författare)
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Measures of continuity of care. A register-based correlation study.
- 1986
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Ingår i: Medical Care. - 0025-7079 .- 1537-1948. ; 24:6, s. 511-518
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Tidskriftsartikel (refereegranskat)abstract
- In an empirical study using data from a health center in Sweden, correlation coefficients were computed among nine different measures of continuity of care, five of them visit-based and four individual-based. Generally, the correlations were high. This may be due, in part, to the similar behavior of the measures for people making few visits. The correlations were also quite high, however, when the sample was restricted to people with many visits. Several measures display a significant dependence on utilization level. The results suggest that, for general purposes, the measure COC should be preferred among the individual-based measures and fraction-of-care continuity among the visit-based measures. On grounds of flexibility and ease of interpretation, the authors recommend fraction-of-care measures.
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| 5. |
- Vogel, G. F., et al.
(författare)
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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
- 2023
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Ingår i: Genetics in Medicine. - : Elsevier BV. - 1098-3600. ; 25:6
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: This study aimed to define the genotypic and phenotypic spectrum of reversible acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU variants and determine the role of cysteine supplementation in its treatment. Methods: Individuals with biallelic (likely) pathogenic variants in TRMU were studied within an international retrospective collection of de-identified patient data. Results: In 62 individuals, including 30 previously unreported cases, we described 47 (likely) pathogenic TRMU variants, of which 17 were novel, and 1 intragenic deletion. Of these 62 individuals, 42 were alive at a median age of 6.8 (0.6-22) years after a median follow-up of 3.6 (0.1-22) years. The most frequent finding, occurring in all but 2 individuals, was liver involvement. ALF occurred only in the first year of life and was reported in 43 of 62 individuals; 11 of whom received liver transplantation. Loss-of-function TRMU variants were associated with poor survival. Supplementation with at least 1 cysteine source, typically N-acetylcysteine, improved survival significantly. Neurodevelopmental delay was observed in 11 individuals and persisted in 4 of the survivors, but we were unable to determine whether this was a primary or a secondary consequence of TRMU deficiency. Conclusion: In most patients, TRMU-associated ALF was a transient, reversible disease and cysteine supplementation improved survival.
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