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| 2. |
- Davidsson, Josef, et al.
(författare)
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Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay.
- 2008
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Ingår i: BMC Medical Genetics. - : Springer Science and Business Media LLC. - 1471-2350. ; 9:2
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Subtelomeric regions are gene rich and deletions in these chromosomal segments have been demonstrated to account for approximately 2.5% of patients displaying mental retardation with or without association of dysmorphic features. However, cases that report de novo terminal deletions on chromosome arm 15q are rare. METHODS: In this study we present the first example of a detailed molecular genetic mapping of a de novo deletion in involving 15q26.2-qter, caused by the formation of a dicentric chromosome 15, using metaphase FISH and tiling resolution (32 k) genome-wide array-based comparative genomic hybridization (CGH). RESULTS: After an initial characterization of the dicentric chromosome by metaphase FISH, array CGH analysis mapped the terminal deletion to encompass a 6.48 megabase (Mb) region, ranging from 93.86-100.34 Mb on chromosome 15. CONCLUSION: In conclusion, we present an additional case to the growing family of reported cases with 15q26-deletion, thoroughly characterized at the molecular cytogenetic level. In the deleted regions, four candidate genes responsible for the phenotype of the patient could be delineated: IGFR1, MEF2A, CHSY1, and TM2D3. Further characterization of additional patients harboring similar 15q-aberrations might hopefully in the future lead to the description of a clear cut clinically recognizable syndrome.
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| 3. |
- Edwinson Månsson, Marie, et al.
(författare)
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The effect of preparation for lumbar puncture on children undergoing chemotherapy
- 1993
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Ingår i: Oncology Nursing Forum. - 0190-535X. ; 20:1, s. 39-45
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Tidskriftsartikel (refereegranskat)abstract
- At the University Hospital in Lund, Sweden, a preparation program was developed for children undergoing lumbar punctures (LPs) during chemotherapy for leukemia or lymphoma. Subsequently, a study was initiated to determine whether a preparation program for children prior to treatment would reduce their anxiety and improve their cooperation. This study also was undertaken to examine whether reinforcing the preparation information prior to each LP would be beneficial. The 30 children who participated in the study were divided into three groups: a control group whose members did not receive preparation and two other groups whose members were exposed to different numbers of preparation programs. The parents and the nurse in charge evaluated the children's reactions during treatment using two 6-point rating scales: an anxiety scale and a noncooperation behavior scale. Two unbiased, trained observers later viewed video recordings of the children's reactions and evaluated them using the same tools. In addition, each child rated his or her experience of pain on a 10 cm visual analogue scale. Based on these ratings, the groups were analyzed to determine if within-group differences existed from one treatment to the next and to determine if between-group differences existed at the various times of treatment. Few statistically significant differences were found, but the results indicate that the children in the most informed group exhibited sustained reductions in their perceptions of pain. This may signify that reinforcing the preparation information before each of the LPs enabled these children to cope with the pain more effectively.
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| 5. |
- Frid, Christina, et al.
(författare)
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Long-term survival in children with atrioventricular septal defect and common atrioventricular valvar orifice in Sweden.
- 2004
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Ingår i: Cardiology in the young. - : Cambridge University Press (CUP). - 1047-9511 .- 1467-1107. ; 14:1, s. 24-31
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The survival for patients with atrioventricular septal defect has improved markedly over the last decades and, during the same period, the survival of children with Down's syndrome has also increased. The aim of our study was to investigate long-term survival in patients having atrioventricular septal defect with common valvar orifice, but without associated significant congenital heart defects, in the setting of Down's syndrome, comparing the findings to those in chromosomally normal children with the same malformation. METHODS AND RESULTS: In a population-based retrospective study, we scrutinised the medical records from 801 liveborn children with atrioventricular septal defect born in Sweden during the period 1973 through 1997. Data on gender, presence or absence of Down's syndrome, associated congenital heart defects, date of birth, operation and death were recorded and followed up until 2001. An isolated atrioventricular septal defect with common atrioventricular valvar orifice was present in 502 children, of whom 86% had Down's syndrome. We found a significant reduc tion over time in age at operation, and in postoperative mortality at 30 days, from 28 to 1%. Using a multiple logistic regression model, we found no significant differences in mortality between genders, nor between those with or without Down's syndrome. Early corrective surgery could not be identified as a significant independent factor for survival. The 5-year postoperative survival in patients with Down's syndrome increased from 65% over the period from 1973 through 1977, to about 90% in the period 1993 through 1997, and the same trend was observed in chromosomally normal patients. CONCLUSIONS: Survival in uncomplicated atrioventricular septal defect with common atrioventricular valvar orifice has greatly increased, and surgical correction is now equally successful in patients with Down's syndrome and chromosomally normal patients, and for both genders. Death in connection with surgery is no longer the major threat, and focus must now be on long-term follow-up.
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| 6. |
- Hakacova, Nina, et al.
(författare)
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Transition from Acenocoumarol to Warfarin in a 12-year-old Child.
- 2011
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Ingår i: Congenital Heart Disease. - : Computers, Materials and Continua (Tech Science Press). - 1747-079X. ; 6, s. 661-664
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Tidskriftsartikel (refereegranskat)abstract
- The types of coumadin anticoagulants registered and available for use differ between countries. Most frequently used coumadin anticoagulants are warfarin and acenocoumarol. Under several specific conditions, transition from one coumarin to another is required. Because of different pharmacokinetic and pharmacodynamic characteristics, the transition from one type of coumarol to another type can be challenging. There are no studies that address this issue in children. We present the case report of transition treatment between acenocoumarol and warfarin in a 12-year-old child with prosthetic mitral valve.
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| 7. |
- Hanséus, Katarina, et al.
(författare)
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Analysis of atrioventricular plane movements by Doppler tissue imaging and m-mode in children with atrial septal defects before and after surgical and device closure.
- 2002
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Ingår i: Pediatric Cardiology. - : Springer Science and Business Media LLC. - 0172-0643 .- 1432-1971. ; 23:2, s. 152-159
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Tidskriftsartikel (refereegranskat)abstract
- Our objective was to compare the effects of surgical and device closure of atrial septal defects (ASDs) on atrioventricular plane function. In healthy individuals, both short- and long-axis motion contribute to ventricular pump function. Short-axis function (i.e., the amplitude and velocity of atrioventricular plane movements) may be evaluated by M-mode and Doppler tissue imaging. The study group consisted of 19 children with ASD of the secundum type before and after surgical (n = 12) or device (n = 7) closure and 10 healthy controls. Surgical and device closures were uncomplicated and all defects were completely closed. Registrations of atrioventricular plane systolic and diastolic amplitude and velocity were made from the tricuspid and the mitral annulus and from the septum in the apical four-chamber view. Comparisons were made between examinations before and after closure, between the two subgroups of patients treated by surgical and device closure, respectively, and between the patient group and the control groups. Before ASD closure, all measurements were normal or near normal. After surgery, systolic amplitudes and velocities of the tricuspid annulus and in the septum decreased significantly, whereas no changes were seen in the device group. Less marked changes were seen in diastolic measurements. However, in the surgical group significant decrease to subnormal values were found in the tricuspid annulus and in the septum, which may indicate a decreased diastolic function postoperatively. Mitral valve annulus amplitude and velocity were not affected by the treatment. Atrioventricular function is normal in children with right ventricular volume overload. The decrease to subnormal values after open-heart surgery is not seen after device closure of the ASD, indicating that surgery affects right ventricular function.
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| 8. |
- Holmqvist, Catarina, et al.
(författare)
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Pre-operative evaluation with MR in tetralogy of fallot and pulmonary atresia with ventricular septal defect
- 2001
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Ingår i: Acta Radiologica. - : SAGE Publications. - 1600-0455 .- 0284-1851. ; 42:1, s. 63-69
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: To assess whether MR imaging could replace angiography in preoperative evaluation of patients with tetralogy of Fallot and pulmonary atresia with ventricular septal defect (VSD), especially since the surgical correction was done earlier than was previously the rule. MATERIAL AND METHODS: Fourteen patients with tetralogy of Fallot (n = 10) or pulmonary atresia with VSD (n = 4), mean age 7.5 +/- 4.4 months, were evaluated with angiocardiography and MR before definitive surgical correction. RESULTS: There was good diagnostic agreement between the two modalities when evaluating right ventricular outflow obstruction; 86% for valvular and 93% for supravalvular stenosis, but the agreement was somewhat lower for the subvalvular obstruction (57%). Surgery findings, however, were in favour of MR in 5 patients concerning the subvalvular right ventricular outflow tract obstruction. MR images identified all stenoses in the right and left pulmonary arteries, but overlooked one stenosis in the main pulmonary artery. MR could evaluate patency in all palliative shunts. CONCLUSION: Even in this young age group, MR imaging offers a good alternative to angiocardiography for the pre-operative evaluation of the right ventricular outflow tract, the main pulmonary artery and the proximal right and left pulmonary arteries, before definitive surgical correction of tetralogy of Fallot and pulmonary atresia with VSD.
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| 9. |
- Jögi, Jonas, et al.
(författare)
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Arbetsprov på barn
- 2013
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Ingår i: Kliniska arbetsprov: metoder för diagnos och prognos. - 9789144083834 ; , s. 447-456
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Bokkapitel (refereegranskat)
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| 10. |
- Lundström, Nils-Rune, et al.
(författare)
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Svårt hjärtsjuka barn från Balkan opererades i Sverige : Redogörelse för 41 barn som behandlats via lyckad hjälpinsats
- 2006
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Ingår i: Läkartidningen. - 0023-7205 .- 1652-7518. ; 103:50-52, s. 4038-4041
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Tidskriftsartikel (refereegranskat)abstract
- The Swedish Medical Program is a co-operation between Linköping University Hospital and the International Organisation for Migration (IOM) for medical support to Bosnia and Hercegovina and to Kosovo. Within this program 41 infants and children from Bosnia-Hercegovina and Kosovo with severe heart disease were transferred to Sweden during the period 1995 - 2003 for treatment, with good results. The program enabled pediatric cardiologists and surgeons from these countries to visit Sweden for shorter training periods and Swedish doctors to supervise local clinicians in these countries. With support from an Austrian team a limited number of children with heart malformations have been treated locally since 2002. It is the intention of the Swedish program to further support the establishment of pediatric heart surgery in Sarajevo.
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