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- de-Wahl Granelli, Anne, 1970, et al.
(författare)
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Impact of pulse oximetry screening on the detection of duct dependent congenital heart disease: a Swedish prospective screening study in 39,821 newborns.
- 2009
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Ingår i: BMJ (Clinical research ed.). - 1468-5833. ; 338
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To evaluate the use of pulse oximetry to screen for early detection of life threatening congenital heart disease. DESIGN: Prospective screening study with a new generation pulse oximeter before discharge from well baby nurseries in West Götaland. Cohort study comparing the detection rate of duct dependent circulation in West Götaland with that in other regions not using pulse oximetry screening. Deaths at home with undetected duct dependent circulation were included. SETTING: All 5 maternity units in West Götaland and the supraregional referral centre for neonatal cardiac surgery. PARTICIPANTS: 39,821 screened babies born between 1 July 2004 and 31 March 2007. Total duct dependent circulation cohorts: West Götaland n=60, other referring regions n=100. MAIN OUTCOME MEASURES: Sensitivity, specificity, positive and negative predictive values, and likelihood ratio for pulse oximetry screening and for neonatal physical examination alone. RESULTS: In West Götaland 29 babies in well baby nurseries had duct dependent circulation undetected before neonatal discharge examination. In 13 cases, pulse oximetry showed oxygen saturations
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| 2. |
- Skogberg, Gabriel, et al.
(författare)
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Altered expression of autoimmune regulator in infant down syndrome thymus, a possible contributor to an autoimmune phenotype.
- 2014
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Ingår i: Journal of Immunology. - : The American Association of Immunologists. - 0022-1767 .- 1550-6606. ; 193:5, s. 2187-95
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Tidskriftsartikel (refereegranskat)abstract
- Down syndrome (DS), caused by trisomy of chromosome 21, is associated with immunological dysfunctions such as increased frequency of infections and autoimmune diseases. Patients with DS share clinical features, such as autoimmune manifestations and specific autoantibodies, with patients affected by autoimmune polyendocrine syndrome type 1. Autoimmune polyendocrine syndrome type 1 is caused by mutations in the autoimmune regulator (AIRE) gene, located on chromosome 21, which regulates the expression of tissue-restricted Ags (TRAs) in thymic epithelial cells. We investigated the expression of AIRE and TRAs in DS and control thymic tissue using quantitative PCR. AIRE mRNA levels were elevated in thymic tissue from DS patients, and trends toward increased expression of the AIRE-controlled genes INSULIN and CHRNA1 were found. Immunohistochemical stainings showed altered cell composition and architecture of the thymic medulla in DS individuals with increased frequencies of AIRE-positive medullary epithelial cells and CD11c-positive dendritic cells as well as enlarged Hassall's corpuscles. In addition, we evaluated the proteomic profile of thymic exosomes in DS individuals and controls. DS exosomes carried a broader protein pool and also a larger pool of unique TRAs compared with control exosomes. In conclusion, the increased AIRE gene dose in DS could contribute to an autoimmune phenotype through multiple AIRE-mediated effects on homeostasis and function of thymic epithelial cells that affect thymic selection processes.
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- Alenius Dahlqvist, Jenny, 1972-, et al.
(författare)
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Pacemaker treatment after Fontan surgery-A Swedish national study
- 2019
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Ingår i: Congenital Heart Disease. - : Computers, Materials and Continua (Tech Science Press). - 1747-079X .- 1747-0803. ; 14:4, s. 582-589
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Tidskriftsartikel (refereegranskat)abstract
- ObjectiveFontan surgery is performed in children with univentricular heart defects. Previous data regarding permanent pacemaker implantation frequency and indications in Fontan patients are limited and conflicting. We examined the prevalence of and risk factors for pacemaker treatment in a consecutive national cohort of patients after Fontan surgery in Sweden. MethodsWe retrospectively reviewed all Swedish patients who underwent Fontan surgery from 1982 to 2017 (n=599). ResultsAfter a mean follow-up of 12.2years, 13% (78/599) of the patients with Fontan circulation had received pacemakers. Patients operated with the extracardiac conduit (EC) type of total cavopulmonary connection had a significantly lower prevalence of pacemaker implantation (6%) than patients with lateral tunnel (LT; 17%). Mortality did not differ between patients with (8%) and without pacemaker (5%). The most common pacemaker indication was sinus node dysfunction (SND) (64%). Pacemaker implantation due to SND was less common among patients with EC. Pacemaker implantation was significantly more common in patients with mitral atresia (MA; 44%), double outlet right ventricle (DORV; 24%) and double inlet left ventricle (DILV; 20%). In contrast, patients with pulmonary atresia with intact ventricular septum and hypoplastic left heart syndrome were significantly less likely to receive a pacemaker (3% and 6%, respectively). ConclusionsThirteen percent of Fontan patients received a permanent pacemaker, most frequently due to SND. EC was associated with a significantly lower prevalence of pacemaker than LT. Permanent pacemaker was more common in patients with MA, DORV, and DILV.
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| 4. |
- Arvidsson, Daniel, 1974, et al.
(författare)
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Physical activity, sports participation and aerobic fitness in children who have undergone surgery for congenital heart defects.
- 2009
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Ingår i: Acta paediatrica (Oslo, Norway : 1992). - : Wiley. - 1651-2227 .- 0803-5253. ; 98:9, s. 1475-82
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Tidskriftsartikel (refereegranskat)abstract
- AIM: To investigate physical activity, sports participation and aerobic fitness in children who have undergone surgery for congenital heart defects. SUBJECTS AND METHODS: Children who had undergone surgery for congenital heart defects and healthy controls in the Gothenburg area were invited to participate in the study. All participants were aged 9-11 or 14-16 years. The activity monitor ActiReg was used to assess physical activity. Participants were interviewed about their participation in sports and performed a maximal exercise test on a bicycle with measured oxygen uptake. RESULTS: A total of 32 and 25 patients, and 61 and 45 controls, in the two age-groups were included, respectively. The patients had a wide range of severity of congenital heart defects. The physical activity level was similar in the patients and the controls. The rate of sports participation was high for both patients and controls; 80-94% of all participants took part in sports at least once a week. The majority of the patients were considered to have at least a moderate level of aerobic fitness. CONCLUSIONS: Although children who have undergone surgery for congenital heart defects have a similar level of physical activity compared with that of healthy children, some of them may require support to participate in exercise and vigorous physical activity.
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- Böhmer, Jens, 1981, et al.
(författare)
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Absolute Quantification of Donor-Derived Cell-Free DNA in Pediatric and Adult Patients After Heart Transplantation: A Prospective Study.
- 2023
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Ingår i: Transplant international : official journal of the European Society for Organ Transplantation. - 0934-0874 .- 1432-2277. ; 36
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Tidskriftsartikel (refereegranskat)abstract
- In this prospective study we investigated a cohort after heart transplantation with a novel PCR-based approach with focus on treated rejection. Blood samples were collected coincidentally to biopsies, and both absolute levels of dd-cfDNA and donor fraction were reported using digital PCR. 52 patients (11 children and 41 adults) were enrolled (NCT03477383, clinicaltrials.gov), and 557 plasma samples were analyzed. 13 treated rejection episodes >14days after transplantation were observed in 7 patients. Donor fraction showed a median of 0.08% in the cohort and was significantly elevated during rejection (median 0.19%, p < 0.0001), using a cut-off of 0.1%, the sensitivity/specificity were 92%/56% (AUC ROC-curve: 0.78). Absolute levels of dd-cfDNA showed a median of 8.8 copies/mL and were significantly elevated during rejection (median 23, p = 0.0001). Using a cut-off of 7.5 copies/mL, the sensitivity/specificity were 92%/43% for donor fraction (AUC ROC-curve: 0.75). The results support the feasibility of this approach in analyzing dd-cfDNA after heart transplantation. The obtained values are well aligned with results from other trials. The possibility to quantify absolute levels adds important value to the differentiation between ongoing graft damage and quiescent situations.
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| 10. |
- de-Wahl Granelli, Anne, 1970, et al.
(författare)
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Screening for duct-dependant congenital heart disease with pulse oximetry: a critical evaluation of strategies to maximize sensitivity
- 2005
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Ingår i: Acta Paediatr. - 0803-5253. ; 94:11, s. 1590-1596
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Tidskriftsartikel (refereegranskat)abstract
- AIM: To evaluate the feasibility of detecting duct-dependent congenital heart disease before hospital discharge by using pulse oximetry. DESIGN: Case-control study. SETTING: A supra-regional referral centre for paediatric cardiac surgery in Sweden. PATIENTS: 200 normal term newborns with echocardiographically normal hearts (median age 1.0 d) and 66 infants with critical congenital heart disease (CCHD; median age 3 d). METHODS: Pulse oximetry was performed in the right hand and one foot using a new-generation pulse oximeter (NGoxi) and a conventional-technology oximeter (CToxi). RESULTS: With the NGoxi, normal newborns showed a median postductal saturation of 99% (range 94-100%); intra-observer variability showed a mean difference of 0% (SD 1.3%), and inter-observer variability was 0% (SD 1.5%). The CToxi recorded a significantly greater proportion of postductal values below 95% (41% vs 1%) in the normal newborns compared with NGoxi (p<0.0001). The CCHD group showed a median postductal saturation of 90% (45-99%) with the NGoxi. Analysis of distributions suggested a screening cut-off of <95%; however, this still gave 7/66 false-negative patients, all with aortic arch obstruction. Best sensitivity was obtained by adding one further criterion: saturation of <95% in both hand and foot or a difference of >+/-3% between hand and foot. These combined criteria gave a sensitivity of 98.5%, specificity of 96.0%, positive predictive value of 89.0% and negative predictive value of 99.5%. CONCLUSION: Systematic screening for CCHD with high accuracy requires a new-generation oximeter, and comparison of saturation values from the right hand and one foot substantially improves the detection of CCHD.
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