| 1. |
- Carlsson, Göran, et al.
(author)
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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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In: Pediatric Blood & Cancer. - : Wiley. - 1545-5009 .- 1545-5017. ; 53:6, s. 1143-1146
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Journal article (peer-reviewed)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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| 3. |
- Elinder, Göran, et al.
(author)
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Traumatic shaking : the role of the triad in medical investigations of suspected traumatic shaking
- 2018
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In: Acta Paediatrica. - Hoboken : John Wiley & Sons. - 0803-5253 .- 1651-2227. ; 107, s. 3-23
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Research review (peer-reviewed)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-
(author)
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Late Effects After Autologous Bone Marrow Transplantation in Childhood
- 2003
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Doctoral thesis (other academic/artistic)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.
(author)
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A misunderstanding. Response to Dr Bilo et al.
- 2017
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In: Acta Paediatrica, International Journal of Paediatrics. - : Wiley. - 0803-5253 .- 1651-2227. ; 106:7, s. 1046-1046
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Journal article (peer-reviewed)
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| 12. |
- Lynøe, Niels, et al.
(author)
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Insufficient evidence for 'shaken baby syndrome' - a systematic review
- 2017
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In: Acta Paediatrica, International Journal of Paediatrics. - : Wiley. - 0803-5253 .- 1651-2227. ; 106:7, s. 1021-1027
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Research review (peer-reviewed)abstract
- Shaken baby syndrome has typically been associated with findings of subdural haematoma, retinal haemorrhages and encephalopathy, which are referred to as the triad. During the last decade, however, the certainty with which the triad can indicate that an infant has been violently shaken has been increasingly questioned. The aim of this study was to determine the diagnostic accuracy of the triad in detecting that an infant had been shaken. The literature search was performed using PubMed, Embase and the Cochrane Library up to October 15, 2015. Relevant publications were assessed for the risk of bias using the QUADAS tool and were classified as having a low, moderate or high risk of bias according to predefined criteria. The reference standards were confessions or witnessed cases of shaking or accidents. The search generated 3773 abstracts, 1064 were assessed as possibly relevant and read as full texts, and 30 studies were ultimately included. Of these, 28 were assessed as having a high risk of bias, which was associated with methodological shortcomings as well as circular reasoning when classifying shaken baby cases and controls. The two studies with a moderate risk of bias used confessions and convictions when classifying shaken baby cases, but their different designs made a meta-analysis impossible. None of the studies had a low risk of bias. Conclusion: The systematic review indicates that there is insufficient scientific evidence on which to assess the diagnostic accuracy of the triad in identifying traumatic shaking (very low-quality evidence). It was also demonstrated that there is limited scientific evidence that the triad and therefore its components can be associated with traumatic shaking (low-quality evidence).
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| 13. |
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| 14. |
- Lynöe, Niels, et al.
(author)
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[Patient participation in clinical training of medical students. Interviews with teachers, patients and students]
- 2008
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In: Lakartidningen. - 0023-7205. ; 105:38, s. 2568-71
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Journal article (other academic/artistic)abstract
- SAMMANFATTATNiels Lynöe, Solvig Ekblad, Göran ElinderE-MAIL niels.lynoe@ki.sePatienter ställer gärna upp i den kliniska undervisningen men vill informeras i förväg och föredrar att bara en student deltar. Om patienten känner sig exploaterad är han/hon mindre benägen att ställa upp nästa gång han/hon tillfrågas.Läkarstudenter letar efter goda förebilder och känner sig obekväma om läraren behandlar patienten respektlöst – de är sig enbart att "så ska jag aldrig själv göra". Läkare bör vara uppmärksamma på att den kliniska undervisningen kan bli kontroproduktiv om man inte visar respekt för patientens självbestämmande. Vid undervisning i undersökningsteknik och diagnostik förmedlas indirekt undervisning i medicinsk etik genom det goda eller dåliga etiska förhållningssätt som läraren visar.
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| 17. |
- Nyström, Anna-Maja, et al.
(author)
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Noonan syndrome and Neurofibromatosis type I in a family with a novel mutation in NF1
- 2009
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In: Clinical Genetics. - : Wiley. - 0009-9163 .- 1399-0004. ; 76:6, s. 524-534
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Journal article (peer-reviewed)abstract
- Noonan Syndrome (NS) and Neurofibromatosis type I (NF1) belong to a group of clinically related disorders that share a common pathogenesis, dysregulation of the RAS-MAPK pathway. NS is characterized by short stature, heart defect, pectus deformity and facial dysmorphism, while skin manifestations, skeletal defects, Lisch nodules and neurofibromas are characteristic of NF1. Both disorders display considerable clinical variability. Features of NS have been observed in individuals with NF1 - a condition known as Neurofibromatosis-Noonan Syndrome (NFNS). The major gene causing NFNS is NF1. Rarely, a mutation in PTPN11 in addition to an NF1 mutation is present. We present the clinical and molecular characterization of a family displaying features of both NS and NF1, with complete absence of neurofibromas. To investigate the etiology of the phenotype, mutational analysis of NF1 was conducted, revealing a novel missense mutation in exon 24, p.L1390F, affecting the GAP-domain. Additional RAS-MAPK pathway genes were examined, but no additional mutations were identified. We confirm that NF1 mutations are involved in the etiology of NFNS. Furthermore, based on our results and previous studies we suggest that evaluation of the GAP-domain of NF1 should be prioritized in NFNS.
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| 18. |
- Olén, Ola, et al.
(author)
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Increased risk of immune thrombocytopenic purpura among inpatients with coeliac disease
- 2008
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In: Scandinavian Journal of Gastroenterology. - Oslo : Taylor & Francis. - 0036-5521 .- 1502-7708. ; 43:4, s. 416-422
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Journal article (peer-reviewed)abstract
- OBJECTIVE: Case reports have indicated a link between coeliac disease (CD) and immune thrombocytopenic purpura (ITP). Two national, register-based studies were carried out to investigate a possible association between CD and ITP and vice versa. MATERIAL AND METHODS: In a cohort study of 14,347 individuals with inpatient diagnoses of CD and 69,967 reference individuals matched for age, gender, calendar year and county, the Cox regression was used to estimate the risk of subsequent inpatient diagnoses of ITP (of any type or chronic). In a case control design, conditional logistic regression was used to assess the risk of exposure (diagnosis of ITP prior to CD) in 15,382 cases (individuals with diagnoses of CD) and 76,824 matched controls. Diagnoses of CD and ITP were identified through the Swedish National Inpatient Register. RESULTS: Individuals with CD were at increased risk of both subsequent ITP of any type (hazard ratio (HR)=1.91; 95% CI=1.19-3.11; p=0.008) and subsequent chronic ITP (HR 2.77; 95% CI=1.09-7.04; p=0.033). Risk estimates were similar when reference individuals were restricted to inpatients. There was also a positive association between CD and prior ITP of any type (odds ratio (OR)=2.96; 95% CI=1.60-5.50; p=0.001) or with prior chronic ITP (OR=6.00; 95% CI=1.83-19.66; p=0.003). CONCLUSIONS: We found a positive association between CD and both ITP of any type and chronic ITP, irrespective of which disease came first, and suggest there should be increased awareness of CD in patients with ITP
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| 21. |
- Tentler, Dmitry, et al.
(author)
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A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome
- 2000
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In: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 37:2, s. 128-131
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Journal article (peer-reviewed)abstract
- Diamond-Blackfan anaemia (DBA) is a constitutional red blood cell hypoplasia which may be associated with a variety of developmental abnormalities. A gene for DBA was recently mapped to chromosome 19q13.2 and subsequently cloned. Analysis of 19q marker alleles in DNA of sporadic DBA cases showed de novo microdeletions in three patients also presenting with mental retardation. We have studied one of these patients and characterised the deletion by fluorescence in situ hybridisation (FISH) to extended DNA fibres. The deletion was shown to be continuous over a 3.2 Mb region and the fibre-FISH analysis showed both chromosomal breakpoints. In combination, the clinical and molecular findings suggest a contiguous gene syndrome with a gene locus for mental retardation and, probably, skeletal malformations included in the deletion.
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