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- Carlsson, Göran, et al.
(författare)
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Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities
- 2009
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Ingår i: Pediatric Blood & Cancer. - : Wiley. - 1545-5009 .- 1545-5017. ; 53:6, s. 1143-1146
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Tidskriftsartikel (refereegranskat)abstract
- Kostmann disease or severe congenital neutropenia (SCN) is an autosomal recessive disorder of neutrophil production. Homozygous HAX1 mutations were recently identified in SCN patients belonging to the original family in northern Sweden described by Kostmann. Moreover, recent studies have suggested an association between neurological dysfunction and HAX1 deficiency. Here we describe a patient with a compound heterozygous HAX1 mutation consisting of a nonsense mutation (c.568C > T, p.Glu190X) and a frame-shift mutation (c.91delG, p.Glu31LysfsX54) resulting in a premature stop codon. The patient has a history of neutropenia and a propensity for infections, but has shown no signs of neurodevelopmental abnormalities.
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| 2. |
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| 3. |
- Elinder, Göran, et al.
(författare)
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Traumatic shaking : the role of the triad in medical investigations of suspected traumatic shaking
- 2018
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Ingår i: Acta Paediatrica. - Hoboken : John Wiley & Sons. - 0803-5253 .- 1651-2227. ; 107, s. 3-23
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Forskningsöversikt (refereegranskat)abstract
- The Swedish Agency for Health Technology Assessment and Assesment of Social Services (SBU) is an independent national authority, tasked by the government with assessing methods used in health, medical and dental services and social service interventions from a broad perspective, covering medical, economic, ethical and social aspects. The language in SBU's reports are adjusted to a wide audience. SBU's Board of Directors has approved the conclusions in this report. The systematic review showed the following graded results:There is limited scientific evidence that the triad (Three components of a whole. The triad associated with SBS usually comprises subdural haematoma, retinal haemorrhages and encephalopathy.) and therefore, its components can be associated with traumatic shaking (low-quality evidence).There is insufficient scientific evidence on which to assess the diagnostic accuracy of the triad in identifying traumatic shaking (very low-quality evidence).Limited scientific evidence (low-quality evidence) represents a combined assessment of studies of high or moderate quality which disclose factors that markedly weaken the evidence. It is important to note that limited scientific evidence for the reliability of a method or an effect does not imply complete lack of scientific support. Insufficient scientific evidence (very low-quality evidence) represents either a lack of studies or situations when available studies are of low quality or show contradictory results. Evaluation of the evidence was not based on formal grading of the evidence according to GRADE but on an evaluation of the total scientific basis.
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| 4. |
- Frisk, Per, 1966-
(författare)
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Late Effects After Autologous Bone Marrow Transplantation in Childhood
- 2003
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Fifty children with hematologic malignancies have been treated with autologous BMT in Uppsala. The aim was to describe late effects in this group with special reference to cataracts, reduced final height, and to hepatic, renal, and pulmonary late effects. Cataracts: All patients who received TBI in their conditioning developed posterior subcapsular cataract after BMT. A few patients with visual impairment affecting daily life needed cataract surgery, whereas the visual acuity was well preserved in most of the other patients.Final height: There was a decrease in final height relative both to height at BMT and to target height. This decrease was significant both in those who had received TBI only and in those who had been given cranial irradiation. Cranial irradiation, young age at BMT, and short duration of GH treatment were predictors of height loss. Hepatic function: Hepatic function was well preserved over a period of 10 years after BMT. TBI did not appear to be a risk factor for hepatic impairment. Renal function: Six months after BMT there was a decrease in renal function in patients who had received TBI. It then recovered, albeit incompletely, and stabilized. After the first year there was little change over a period of 10 years after BMT. TBI appeared to be the most important risk factor for the development of chronic renal impairment in a number of patients. Nephrotoxic antibiotics may have contributed.Pulmonary function: Six months after BMT there was a decrease in pulmonary function in those who received TBI. It then recovered and stabilized at the pretransplant level. After the first year there was little change over a period of 10 years after BMT. TBI appeared to be the most important risk factor for restrictive pulmonary disease in a number of patients whereas chemotherapy might also have been of importance for impaired gas exchange.
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| 8. |
- Lynøe, Niels, et al.
(författare)
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A misunderstanding. Response to Dr Bilo et al.
- 2017
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Ingår i: Acta Paediatrica, International Journal of Paediatrics. - : Wiley. - 0803-5253 .- 1651-2227. ; 106:7, s. 1046-1046
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Tidskriftsartikel (refereegranskat)
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