| 1. |
- Lindeberg, Sara, et al.
(författare)
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Development of the Parent-to-Infant Bonding Scale : Validation in Swedish Mothers and Fathers in Community and Clinical Contexts
- 2024
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Ingår i: Child Psychiatry and Human Development. - : Kluwer Academic/Human Sciences Press Inc.. - 0009-398X .- 1573-3327.
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Tidskriftsartikel (refereegranskat)abstract
- Valid measurement instruments are needed to investigate the impact of parental bonding on child health development. The aim was to develop and validate a self-report questionnaire, the Parent-to-Infant Bonding Scale (PIBS) to measure bonding in both mothers and fathers. Internal consistency and construct validity were analysed using data from Swedish parents from both clinical (N = 182), and community (N = 122) population samples. Overall, good or acceptable internal consistency of the PIBS appeared. Convergent validity (against the Postpartum Bonding Questionnaire, analysed in the clinical sample) and discriminant validity (against the mental health constructs of depressive symptoms and anxiety) were demonstrated. The results support the PIBS as a measure of maternal and paternal bonding in community and clinical populations. Assessments of criterion validity in these populations are desirable. The similarities in PIBS measurement properties between the parent groups suggest its usefulness for comparisons between mothers and fathers, and for future investigations of unique and interactive impacts of maternal and paternal bonding on child outcomes using community and clinical cohorts.
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| 2. |
- Lindeberg, Sara, et al.
(författare)
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Development of the Parent-to-Infant Bonding Scale : Validation in Swedish Mothers and Fathers in Community and Clinical Contexts
- 2024
-
Ingår i: Child Psychiatry and Human Development. - : Springer. - 0009-398X .- 1573-3327.
-
Tidskriftsartikel (refereegranskat)abstract
- Valid measurement instruments are needed to investigate the impact of parental bonding on child health development. The aim was to develop and validate a self-report questionnaire, the Parent-to-Infant Bonding Scale (PIBS) to measure bonding in both mothers and fathers. Internal consistency and construct validity were analysed using data from Swedish parents from both clinical (N = 182), and community (N = 122) population samples. Overall, good or acceptable internal consistency of the PIBS appeared. Convergent validity (against the Postpartum Bonding Questionnaire, analysed in the clinical sample) and discriminant validity (against the mental health constructs of depressive symptoms and anxiety) were demonstrated. The results support the PIBS as a measure of maternal and paternal bonding in community and clinical populations. Assessments of criterion validity in these populations are desirable. The similarities in PIBS measurement properties between the parent groups suggest its usefulness for comparisons between mothers and fathers, and for future investigations of unique and interactive impacts of maternal and paternal bonding on child outcomes using community and clinical cohorts.
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| 3. |
- Tedgård, Eva, et al.
(författare)
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Parenting stress and its correlates in an infant mental health unit: a cross-sectional study
- 2020
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Ingår i: Nordic Journal of Psychiatry. - : Informa UK Limited. - 0803-9488 .- 1502-4725. ; 74:1, s. 30-39
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Tidskriftsartikel (refereegranskat)abstract
- Background: An infant's development is closely linked to the relationship they have with their parents. Parenting stress, affective disorder, and an upbringing with substance-abusing parents can affect parenting quality and increase the risk of children developing behavioral, mental and social problems. The overall aim of the study was to investigate how parents of children attending an outpatient Infant Mental Health (IMH) unit rate their own psychological health and parenting stress, and to explore predictors of parenting stress. Methods: The sample comprised 197 parents, 129 mothers and 68 fathers, referred with their infant/toddler to an outpatient IMH unit for interplay treatment. On admission, the parents completed self-report questionnaires concerning their own mental health problems and parenting stress. Results: The mothers reported significantly more psychiatric symptoms and parenting stress than the fathers. Fathers with substance-abusing parents had often experienced divorce in the family of origin, had a low level of education, and had often experienced trauma. Depression was a predictor for parenting stress for both mothers and fathers. Conclusion: The parents' situation was strained, presenting a variety of psychiatric symptoms and high levels of parenting stress, making assessment of parental health before starting treatment important. The mothers' situations were more serious compared with the fathers', and for both parents depression was a significant predictor for parenting stress. To increase the chances of a positive treatment outcome for the child, both parents should be included in the treatment.
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| 4. |
- Tedgård, Ulf, et al.
(författare)
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How do carriers of hemophilia experience prenatal diagnosis (PND)? : Carriers' Immediate and later reactions to amniocentesis and fetal blood sampling
- 1989
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Ingår i: Acta Paediatrica Scandinavica. - : Wiley. - 0001-656X .- 0803-5253 .- 1651-2227. ; 78:5, s. 692-700
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Tidskriftsartikel (refereegranskat)abstract
- A semistructured personal interview was performed with 29 carriers of hemophilia A or B, 1-5 years after a pregnancy in which prenatal diagnosis (PND) was performed by fetal blood sampling. Fetal blood sampling by fetoscopy was significantly more often reported by the women to the more trying than expected than was ultrasound-guided heart puncture. Of 29 women 13 was classified as having experienced the PND process (amniocentesis and fetal blood sampling) as distressing, having had mental or psychosomatic symptoms associated with it. All of the women who had abortion/miscarriage after PND reported a very high frequency of psychological sequelae during the 6 months that followed PND. Of 22 women who continued their pregnancy with a healthy fetus after PND 8 experienced the period until delivery as trying and felt that their emotional and somatic status influenced their daily life activities. This was particularly common among women who after fetoscopy received routine profylactic terbutalin treatment and had continuous sickleave until the 36th gestational week, 17/29 would consider going through PND in the future. Qualified psychological assistance must be offered both before and after PND.
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| 5. |
- Aksentijevich, Ivona, et al.
(författare)
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An Autoinflammatory Disease with Deficiency of the Interleukin-1-Receptor Antagonist
- 2009
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Ingår i: New England Journal of Medicine. - 0028-4793. ; 360:23, s. 2426-2437
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND Autoinflammatory diseases manifest inflammation without evidence of infection, high-titer autoantibodies, or autoreactive T cells. We report a disorder caused by mutations of IL1RN, which encodes the interleukin-1-receptor antagonist, with prominent involvement of skin and bone. METHODS We studied nine children from six families who had neonatal onset of sterile multifocal osteomyelitis, periostitis, and pustulosis. Response to empirical treatment with the recombinant interleukin-1-receptor antagonist anakinra in the first patient prompted us to test for the presence of mutations and changes in proteins and their function in interleukin-1-pathway genes including IL1RN. RESULTS We identified homozygous mutations of IL1RN in nine affected children, from one family from Newfoundland, Canada, three families from the Netherlands, and one consanguineous family from Lebanon. A nonconsanguineous patient from Puerto Rico was homozygous for a genomic deletion that includes IL1RN and five other interleukin-1-family members. At least three of the mutations are founder mutations; heterozygous carriers were asymptomatic, with no cytokine abnormalities in vitro. The IL1RN mutations resulted in a truncated protein that is not secreted, thereby rendering cells hyperresponsive to interleukin-1 beta stimulation. Patients treated with anakinra responded rapidly. CONCLUSIONS We propose the term deficiency of the interleukin-1-receptor antagonist, or DIRA, to denote this autosomal recessive autoinflammatory disease caused by mutations affecting IL1RN. The absence of interleukin-1-receptor antagonist allows unopposed action of interleukin-1, resulting in life-threatening systemic inflammation with skin and bone involvement. (ClinicalTrials.gov number, NCT00059748.)
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| 6. |
- Davidsson, Josef, et al.
(författare)
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SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies
- 2018
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Ingår i: Leukemia. - : Springer Science and Business Media LLC. - 0887-6924 .- 1476-5551. ; 32:5, s. 1106-1115
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Tidskriftsartikel (refereegranskat)abstract
- Germline mutations in the SAMD9 and SAMD9L genes, located in tandem on chromosome 7, are associated with a clinical spectrum of disorders including the MIRAGE syndrome, ataxia–pancytopenia syndrome and myelodysplasia and leukemia syndrome with monosomy 7 syndrome. Germline gain-of-function mutations increase SAMD9 or SAMD9L’s normal antiproliferative effect. This causes pancytopenia and generally restricted growth and/or specific organ hypoplasia in non-hematopoietic tissues. In blood cells, additional somatic aberrations that reverse the germline mutation’s effect, and give rise to the clonal expansion of cells with reduced or no antiproliferative effect of SAMD9 or SAMD9L include complete or partial chromosome 7 loss or loss-of-function mutations in SAMD9 or SAMD9L. Furthermore, the complete or partial loss of chromosome 7q may cause myelodysplastic syndrome in these patients. SAMD9 mutations appear to associate with a more severe disease phenotype, including intrauterine growth restriction, developmental delay and hypoplasia of adrenal glands, testes, ovaries or thymus, and most reported patients died in infancy or early childhood due to infections, anemia and/or hemorrhages. SAMD9L mutations have been reported in a few families with balance problems and nystagmus due to cerebellar atrophy, and may lead to similar hematological disease as seen in SAMD9 mutation carriers, from early childhood to adult years. We review the clinical features of these syndromes, discuss the underlying biology, and interpret the genetic findings in some of the affected family members. We provide expert-based recommendations regarding diagnosis, follow-up, and treatment of mutation carriers.
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| 7. |
- Gorcenco, Sorina, et al.
(författare)
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Ataxia-pancytopenia syndrome with SAMD9L mutations
- 2017
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Ingår i: Neurology: Genetics. - 2376-7839. ; 3:5
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: We describe the neurologic, neuroradiologic, and ophthalmologic phenotype of 1 Swedish and 1 Finnish family with autosomal dominant ataxia-pancytopenia (ATXPC) syndrome and SAMD9L mutations.METHODS: Members of these families with germline SAMD9L c.2956C>T, p.Arg986Cys, or c.2672T>C, p.Ile891Thr mutations underwent structured interviews and neurologic and ophthalmologic examinations. Neuroimaging was performed, and medical records were reviewed. Previous publications on SAMD9L-ATXPC were reviewed.RESULTS: Twelve individuals in both families were affected clinically. All mutation carriers examined had balance impairment, although severity was very variable. All but 1 had nystagmus, and all but 1 had pyramidal tract signs. Neurologic features were generally present from childhood on and progressed slowly. Two adult patients, who experienced increasing clumsiness, glare, and difficulties with gaze fixation, had paracentral retinal dysfunction verified by multifocal electroretinography. Brain MRI showed early, marked cerebellar atrophy in most carriers and variable cerebral periventricular white matter T2 hyperintensities. Two children were treated with hematopoietic stem cell transplantation for hematologic malignancies, and the neurologic symptoms of one of these worsened after treatment. Three affected individuals had attention deficit hyperactivity disorder or cognitive problems. Retinal dysfunction was not previously reported in individuals with ATXPC.CONCLUSIONS: The neurologic phenotype of this syndrome is defined by balance or gait impairment, nystagmus, hyperreflexia in the lower limbs and, frequently, marked cerebellar atrophy. Paracentral retinal dysfunction may contribute to glare, reading problems, and clumsiness. Timely diagnosis of ATXPC is important to address the risk for severe hemorrhage, infection, and hematologic malignancies inherent in this syndrome; regular hematologic follow-up might be beneficial.
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| 8. |
- Gouw, Samantha C., et al.
(författare)
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Recombinant versus plasma-derived factor VIII products and the development of inhibitors in previously untreated patients with severe hemophilia A: the CANAL cohort study
- 2007
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Ingår i: Blood. - : American Society of Hematology. - 1528-0020 .- 0006-4971. ; 109:11, s. 4693-4697
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Tidskriftsartikel (refereegranskat)abstract
- It has been suggested that plasma-derived factor VIII products induce fewer inhibitors than recombinant factor VIII products. We investigated the relationship of factor VIII product type and switching between factor VIII products with the risk to develop inhibitors. This multicenter retrospective cohort study included 316 patients with severe hemophilia A born between 1990 and 2000. The outcome was clinically relevant inhibitor development, defined as the occurrence of at least 2 positive inhibitor titers with decreased recovery. The risk of inhibitor development was not clearly lower in plasma-derived compared with recombinant factor VIII products (relative risk [RR],. 0.8; 95% confidence interval [CI], 0.5-1.3). Among high-titer inhibitors, the possible reduction in risk was even less pronounced (RR, 0.9; CI, 0.5-1.5). Plasma-derived products with considerable quantities of von Willebrand factor (VWF) carried the same risk for inhibitor development as recombinant factor VIII products (RR, 1.0; CI, 0.6-1.6). Switching between factor VIII products did not increase the risk for inhibitors (RR, 1.1; CI, 0.6-1.8). In conclusion, our findings support neither the notion that plasma-derived factor VIII products with considerable concentrations of VWF confer a lower risk to develop inhibitory antibodies than recombinant factor VIII products, nor that switching between factor VIII product brands increases inhibitor risks in previously untreated patients with severe hemophilia A.
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| 9. |
- Hansson, Emma, et al.
(författare)
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Plastic surgical treatment of purpura fulminans: Long-term follow-up of two patients.
- 2013
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Ingår i: Journal of Plastic Surgery and Hand Surgery. - 2000-656X. ; 47:2, s. 147-151
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Tidskriftsartikel (refereegranskat)abstract
- Abstract Purpura fulminans (PF) is a rapidly progressing, potentially life-threatening condition characterised by disseminated intravascular coagulation (DIC) and haemorrhagic infarction of the skin. Plastic surgical treatment of PF has never been reported in Scandinavia. The aim of this report was to review plastic surgical treatment of PF and the long-term results of two patients treated in our department. Both patients presented to a community hospital with skin lesions looking like simple traumatic skin bleeds a period after a Varicella infection. They were initially treated at the community hospitals with broad-spectrum antibiotics and adjunctive therapies. When their condition permitted, they were transferred to the department of paediatrics of Skåne University Hospital where their DIC was treated further. The patients were transferred to the department of plastic and reconstructive surgery, when medically stable, and operated on with debridement, and amputation of a toe in one patient, and the application of autologous skin grafts. The children made an excellent recovery and were discharged home after 1.5 months and 3 weeks, respectively. At follow-up, 14 years and 8 years later, respectively, the patients were fully recovered and no secondary corrections were indicated. In conclusion, debridement of necrotic tissue should be performed in a department of plastic and reconstructive surgery as soon as the child is clinically stable, and skin grafting when the wound bed permits it. Follow-up should be performed in the same fashion as for full-thickness burns.
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| 10. |
- Knobe, Karin, et al.
(författare)
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Lupus anticoagulants in two children-bleeding due to nonphospholipid-dependent antiprothrombin antibodies
- 2012
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Ingår i: European Journal of Pediatrics. - : Springer Science and Business Media LLC. - 0340-6199 .- 1432-1076. ; 171:9, s. 1383-1387
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Tidskriftsartikel (refereegranskat)abstract
- We describe two children with significant bleeding: one with multiple ecchymoses and the other with scrotal bleeding. In both patients, the activated partial thromboplastin time (APTT) was prolonged, with positivity for lupus anticoagulants (LA). However, the Owren prothrombin time (PT), usually insensitive for LA, was also prolonged. The presence of LA is associated with diverse clinical manifestations, with most patients being asymptomatic while others present venous or arterial thrombosis. Bleeding in conjunction with LA is rare and it is unusual to see prolongation of the Owren PT assay due to LA. An extended laboratory investigation of one of the patient's plasma revealed not only LA but also a specific nonphospholipid-dependent antiprothrombin antibody causing an acquired hypoprothrombinemia. Conclusion: It is likely that the low prothrombin activity and not the LA caused the bleeding. The bleeding signs and symptoms in both patients subsided when the PT was normalized, although the prolonged APTT and the LA remained.
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| 11. |
- Ljung, Rolf, et al.
(författare)
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Genetic counselling of haemophilia carriers
- 2003
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Ingår i: Seminars in Thrombosis and Hemostasis. - : Georg Thieme Verlag KG. - 1098-9064 .- 0094-6176. ; 29:1, s. 31-36
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Tidskriftsartikel (refereegranskat)abstract
- Basic analysis of a potential carrier includes calculation of the probability, or odds, for carriership based on pedigree and clotting factor analysis. Genotype assessment constitutes a more accurate method of carrier detection. Where circumstances permit, the genetic diagnosis of hemophilia should be based on the direct identification of the pathogenic mutation in the factor (F) VIII gene. Neutral mutations in the FVIII gene and the risk of mosaicism (a mixture of normal and mutation carrying cells) in sporadic families may cause misclassification. If it is not possible to use the mutation for diagnostic purposes, it may be possible to use linked polymorphic markers (restriction fragment length polymorphisms [RFLP]) to trace the inheritance of the hemophilia gene within a pedigree. Linkage analysis is limited because of uninformative patterns of polymorphic markers, ethnic variation, linkage disequilibrium, and the need for participation of family members, and it is not useful in sporadic families, which constitute more than half of the hemophilia families. Potential carriers of hemophilia should be offered qualified assistance in genetic information, testing, and counseling to help them to cope with the psychological and ethical problems related to carriership of a genetic disorder.
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| 12. |
- LJUNG, ROLF, et al.
(författare)
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The impact of prenatal diagnosis on the incidence of haemophilia in Sweden
- 1995
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Ingår i: Haemophilia. - : Wiley. - 1351-8216 .- 1365-2516. ; 1:3, s. 190-193
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Tidskriftsartikel (refereegranskat)abstract
- Summary A demographic survey was made of all children (n= 137) born with severe or moderate haemophilia in Sweden during the period 1970‐92. Bn addition, all prenatal diagnoses (n= 86) performing during the period were evaluated. The annual incidence of severe and moderate haemophilia, having remained constant for decades, increased from 0.78/10,000 males in the 1970s to 1.34 in the 1980s, levelling off at 1.31 in the 1990s. Although prenatal diagnosis did not affect the incidence of haemophilia in the 1970s and 1980s, it did so in the 1990s, because the incidence would have been 40% higher (1.83) had not prental diagnosis been available and 16 affected fetuses been aborted. The average proportion of sporadic cases, 62%, remained almost unchanged during the study period, suggesting mutation rates to be constant. There were fewere children in families with known haemophilia than in sporadic families, but no evidence was found to suggest that the frequency of female offspring (i.e. potential carriers) born in haemophilia families had increased since the option of prenatal diagnosis was introduced.
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| 13. |
- Mateos, Marion K., et al.
(författare)
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Genome-wide association meta-analysis of single-nucleotide polymorphisms and symptomatic venous thromboembolism during therapy for acute lymphoblastic leukemia and lymphoma in caucasian children
- 2020
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Ingår i: Cancers. - : MDPI AG. - 2072-6694. ; 12:5
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Tidskriftsartikel (refereegranskat)abstract
- Symptomatic venous thromboembolism (VTE) occurs in five percent of children treated for acute lymphoblastic leukemia (ALL), but whether a genetic predisposition exists across different ALL treatment regimens has not been well studied. Methods: We undertook a genome-wide association study (GWAS) meta-analysis for VTE in consecutively treated children in the Nordic/Baltic acute lymphoblastic leukemia 2008 (ALL2008) cohort and the Australian Evaluation of Risk of ALL Treatment-Related Side-Effects (ERASE) cohort. A total of 92 cases and 1481 controls of European ancestry were included. Results: No SNPs reached genome-wide significance (p < 5 × 10−8) in either cohort. Among the top 34 single-nucleotide polymorphisms (SNPs) (p < 1 × 10−6), two loci had concordant effects in both cohorts: ALOX15B (rs1804772) (MAF: 1%; p = 3.95 × 10−7) that influences arachidonic acid metabolism and thus platelet aggregation, and KALRN (rs570684) (MAF: 1%; p = 4.34 × 10−7) that has been previously associated with risk of ischemic stroke, atherosclerosis, and early-onset coronary artery disease. Conclusion: This represents the largest GWAS meta-analysis conducted to date associating SNPs to VTE in children and adolescents treated on childhood ALL protocols. Validation of these findings is needed and may then lead to patient stratification for VTE preventive interventions. As VTE hemostasis involves multiple pathways, a more powerful GWAS is needed to detect combination of variants associated with VTE.
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| 14. |
- Mårtensson, Annika, et al.
(författare)
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Prenatal diagnosis of haemophilia in Sweden now more commonly used for psychological preparation than termination of pregnancy.
- 2014
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Ingår i: Haemophilia. - : Wiley. - 1351-8216. ; 20:6, s. 854-858
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Tidskriftsartikel (refereegranskat)abstract
- The aims of the study were to define the frequency, outcome and reasons for prenatal diagnosis (PND) in Sweden during a 30-year period in order to study trends and changes. The study population, from the Swedish nationwide registry of PND of haemophilia, consisted of 54 women, compromising >95% of all, who underwent PND (n = 90) of haemophilia during 1977-2013. PND was performed by amniocentesis (n = 10), chorionic villus sampling (n = 64) or by analysis of foetal blood (n = 16). A total of 27/90 foetuses were found to have haemophilia. Sixteen went to termination and the remaining 11 were born during the end of the study period (2000-2013). Three of 90 pregnancies were terminated due to findings other than haemophilia and 3/90 PNDs led to miscarriage. In the 30 families with known haemophilia, PNDs (n = 55) were used in 27/55 cases for 'psychological preparation' and in 23/55 cases with the aim to terminate the pregnancy. A subgroup of women (n = 17) who consecutively underwent PND in the years 1997-2010 were further interviewed. For 11/17, being a carrier had a negative effect on the decision to become pregnant, and in 11 cases PND had influenced their decision to conceive. Our study show that PND of haemophilia is stable over time but increasingly used during the last decade as a psychological preparation for having a child with haemophilia as compared to earlier where more terminations of pregnancies were conducted.
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| 15. |
- Nilsson, Cecilia, et al.
(författare)
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Studies of chronic ITP in children and adolescents.
- 2006
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Ingår i: Pediatric Blood & Cancer. - : Wiley. - 1545-5017 .- 1545-5009. ; 47:S5, s. 660-661
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Tidskriftsartikel (refereegranskat)abstract
- This paper presents an ongoing study of children with chronic ITP in Sweden that addresses four specific questions: is there a subgroup of children with chronic ITP that have impaired platelet function? Do children in this subgroup have antibodies directed against surface glycoproteins that are crucial for platelet function? Can desmopressin improve the impaired platelet function in this subgroup? Do children with chronic ITP show signs of cell-mediated cytotoxicity?
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| 16. |
- Ranta, Susanna, et al.
(författare)
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Cerebral sinus venous thromboses in children with acute lymphoblastic leukaemia - a multicentre study from the Nordic Society of Paediatric Haematology and Oncology
- 2015
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Ingår i: British Journal of Haematology. - : Wiley. - 0007-1048 .- 1365-2141. ; 168:4, s. 547-552
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Tidskriftsartikel (refereegranskat)abstract
- We present a prospective multicentre cohort of 20 children with acute lymphoblastic leukaemia (ALL) and cerebral sinus venous thrombosis (CSVT). The study covers a period of 5years and comprises 1038 children treated according to the Nordic Society of Paediatric Haematology and Oncology (NOPHO) ALL 2008 protocol. The cumulative incidence of CSVT was 2%. Sixteen of the thromboses were related to asparaginase and 16 to steroids. Most CSVTs occurred in the consolidation phase. Nearly all were treated with low molecular weight heparin without bleeding complications. Mortality related to CSVT directly or indirectly was 10%, emphasizing the importance of this complication.
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| 17. |
- Schmidt, Sanna Hellström, et al.
(författare)
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Breath-holding spells occur disproportionately more often in children with transient erythroblastopenia
- 2016
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Ingår i: Acta Pædiatrica. - : Wiley. - 1651-2227 .- 0803-5253. ; 105:9, s. 1088-1093
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Tidskriftsartikel (refereegranskat)abstract
- AIM: This study aimed to evaluate the concomitant occurrence and possible association of breath-holding spells (BHS) and transient erythroblastopenia of childhood (TEC).METHODS: This population-based cohort study, carried out in Southern Sweden from 2004-2014, included patients with BHS and, or, anaemia, including TEC. The subjects were evaluated for the presence of all three conditions and the diagnostic workups, disease characteristics and outcome were analysed.RESULTS: We studied 443,470 children under the age of 10 years old during 2004-2014. The total cohort included 321 patients (0.07%) with BHS and 366 patients with a selection of anaemia diagnoses, including 41 with TEC. We found that nine (2.5%) of the 366 patients with anaemia diagnoses also had BHS and that five (12.2%) of the 41 patients with TEC patients also had BHS. Treatment for anaemia resolved BHS in a number of patients.CONCLUSION: Our population-based analysis revealed an overrepresentation of BHS among children with TEC and we identified five patients with concomitant TEC and BHS. We found that correcting anaemia was an effective means of ameliorating potentially debilitating BHS and that the presence of concomitant BHS and TEC was more common than previously assumed. This article is protected by copyright. All rights reserved.
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| 18. |
- Schwarz, Rudolf, et al.
(författare)
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Various regimens for prophylactic treatment of patients with haemophilia
- 2015
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Ingår i: European Journal of Haematology. - : Wiley. - 1600-0609 .- 0902-4441. ; 94, s. 11-16
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Forskningsöversikt (refereegranskat)abstract
- Haemophilia prophylaxis is superior to on-demand treatment to prevent joint damage. High-dose prophylaxis' as used in Sweden is more effective in preventing arthropathy than an intermediate-dose regimen' (the Netherlands) and the Canadian tailored primary prophylaxis. Prophylaxis may reduce the risk of developing inhibitors. There is no difference in inhibitor risk between plasma derived and recombinant factor VIII (rFVIII) products but the Rodin study showed increased risk with second-generation rFVIII products. MRI is a new and very sensitive tool to detect the symptoms of early arthropathy but some results (soft tissue changes in bleed-free joints') still need to be investigated. Ultrasound is a very helpful method to aid diagnosis especially during the acute phase of a bleed. The risk of infection with central venous access remains a matter of debate. A fully implanted central venous access device (CVAD) has a significant lower risk of infection compared to external CVADs. Patient's age under 6yr and inhibitor presence are additional risk factors for infections. The role of arteriovenous fistulae needs to be investigated because significant complications have been reported. Disease-specific quality of life instruments are complementary to generic instruments evaluating QoL in patients with haemophilia and have become important health outcome measures.
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| 19. |
- Sjögren, Sara E., et al.
(författare)
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Targeting elevated heme levels to treat a mouse model for Diamond-Blackfan Anemia
- 2022
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Ingår i: Experimental Hematology. - : Elsevier BV. - 0301-472X. ; 105, s. 50-61
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Tidskriftsartikel (refereegranskat)abstract
- Diamond-Blackfan anemia (DBA) is a rare genetic disorder in which patients present a scarcity of erythroid precursors in an otherwise normocellular bone marrow. Most, but not all, patients carry mutations in ribosomal proteins such as RPS19, suggesting that compromised mRNA translation and ribosomal stress are pathogenic mechanisms causing depletion of erythroid precursors. To gain further insight to disease mechanisms in DBA, we performed a custom short hairpin RNA (shRNA) based screen against 750 genes hypothesized to affect DBA pathophysiology. Among the hits were two shRNAs against the erythroid specific heme-regulated eIF2α kinase (HRI), which is a negative regulator of mRNA translation. This study shows that shRNA-mediated HRI silencing or loss of one HRI allele improves expansion of Rps19-deficient erythroid precursors, as well as improves the anemic phenotype in Rps19-deficient animals. We found that Rps19-deficient erythroblasts have elevated levels of unbound intracellular heme, which is normalized by HRI heterozygosity. Additionally, targeting elevated heme levels by treating cells with the heme scavenger alpha-1-microglobulin (A1M), increased proliferation of Rps19-deficient erythroid precursors and decreased heme levels in a disease-specific manner. HRI heterozygosity, but not A1M treatment, also decreased the elevated p53 activity observed in Rps19-deficient cells, indicating that p53 activation is caused by ribosomal stress and aberrant mRNA translation and not heme overload in Rps19-deficiency. Together, these findings suggest that targeting elevated heme levels is a promising new treatment strategy for DBA.
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| 20. |
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| 21. |
- Tedgård, Ulf, et al.
(författare)
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How do carriers of hemophilia and their spouses experience prenatal diagnosis by chorionic villus sampling?
- 1999
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Ingår i: Clinical Genetics. - 0009-9163. ; 55:1, s. 26-33
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Tidskriftsartikel (refereegranskat)abstract
- A semistructured personal interview with 29 female carriers of hemophilia and 23 of their spouses was performed at a median of 3 1/2 years after the first chorionic villus sampling (CVS) and gene analysis. Carriers with a hemophilic father or brother, had high sense of coherence (SOC) scores, and thus would be expected to have good ability to handle the stress of prenatal diagnosis (PD). Prenatal diagnosis of hemophilia by CVS was generally well accepted by the women and their spouses. However, the period while waiting for test results was experienced as emotionally troublesome by both the women and their spouses; women reporting significantly more psychiatric or psychosomatic symptoms than men. Positive effects resulting from participation by the spouse on how the women experienced PD could not be identified. Selective abortion after first trimester PD was clearly experienced as emotionally painful by both the women and their spouses, these reactions being similar to, but not as pronounced as those found after second trimester selective abortion. Notably, signs of depressive mood were observed several years after the abortion, and the provision of psychosocial support should be recommended for couples who decide upon termination of pregnancy following PD.
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| 22. |
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| 23. |
- Tedgård, Ulf
(författare)
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Prenatal Diagnosis of Haemophilia - psychological, social and ethical aspects
- 1999
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The general aim of this study has been to study the psychological, social and ethical aspects for carriers of haemophilia and their spouses, related to the development of techniques for carrier testing and for prenatal diagnosis (PD) of haemophilia. This was investigated by a semi-structured follow-up interview with 29 carriers of haemophilia with experience of PD by fetal blood sampling (FBS), and with 29 carriers (and 23 spouses) with experience of PD by chorionic villus sampling (CVS). The long-term psychological effects of carrier testing, PD and abortion were investigated by a questionnaire study, comparing 105 carriers of haemophilia with and without experience of PD as well as a partially matched control group of 262 women who were not carriers of haemophilia and who had no experience of PD. Many carriers report negative emotional reactions when receiving information about carriership as well as a negative effect on their self image. Most aspects of the PD procedure by FBS were experienced as trying or very trying by somewhat less than half of the women. The prolonged period of uncertainty before the final results of the FBS process were obtained, implied that many carriers had not experienced the pregnancy as real until that point in pregnancy. For some of them even the remainder of the pregnancy became psychologically trying. PD by CVS was generally well accepted by the women and their spouses, appears to be experienced as less complicated than FBS and women do not report problems during the remainder of pregnancy. Positive effects on how the women experienced CVS resulting from participation by the spouse could not be identified. Carrier testing for haemophilia per se and in combination with PD does not appear to have negative long-term psychological effects among carriers who have children. Selective abortion after first trimester PD is experienced as emotionally painful by both the woman and her spouse, the reactions appearing similar to, but not as pronounced as, those found after second trimester selective abortion. Notably, signs of depressive mood were ob-served several years after the abortion, but negative long-term psychological effects could not be identified at a median of 6 years after the abortion.
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