| 1. |
- Tedgård, Eva, et al.
(författare)
-
Parenting stress and its correlates in an infant mental health unit: a cross-sectional study
- 2020
-
Ingår i: Nordic Journal of Psychiatry. - : Informa UK Limited. - 0803-9488 .- 1502-4725. ; 74:1, s. 30-39
-
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.
|
|
| 2. |
- Tedgård, Ulf, et al.
(författare)
-
How do carriers of hemophilia experience prenatal diagnosis (PND)? : Carriers' Immediate and later reactions to amniocentesis and fetal blood sampling
- 1989
-
Ingår i: Acta Paediatrica Scandinavica. - : Wiley. - 0001-656X .- 0803-5253 .- 1651-2227. ; 78:5, s. 692-700
-
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.
|
|
| 3. |
- Aksentijevich, Ivona, et al.
(författare)
-
An Autoinflammatory Disease with Deficiency of the Interleukin-1-Receptor Antagonist
- 2009
-
Ingår i: New England Journal of Medicine. - 0028-4793. ; 360:23, s. 2426-2437
-
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.)
|
|
| 4. |
- Davidsson, Josef, et al.
(författare)
-
SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies
- 2018
-
Ingår i: Leukemia. - : Springer Science and Business Media LLC. - 0887-6924 .- 1476-5551. ; 32:5, s. 1106-1115
-
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.
|
|
| 5. |
- Gorcenco, Sorina, et al.
(författare)
-
Ataxia-pancytopenia syndrome with SAMD9L mutations
- 2017
-
Ingår i: Neurology: Genetics. - 2376-7839. ; 3:5
-
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.
|
|
| 6. |
- Gouw, Samantha C., et al.
(författare)
-
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
-
Ingår i: Blood. - : American Society of Hematology. - 1528-0020 .- 0006-4971. ; 109:11, s. 4693-4697
-
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.
|
|
| 7. |
- Hansson, Emma, et al.
(författare)
-
Plastic surgical treatment of purpura fulminans: Long-term follow-up of two patients.
- 2013
-
Ingår i: Journal of Plastic Surgery and Hand Surgery. - 2000-656X. ; 47:2, s. 147-151
-
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.
|
|
| 8. |
- Knobe, Karin, et al.
(författare)
-
Lupus anticoagulants in two children-bleeding due to nonphospholipid-dependent antiprothrombin antibodies
- 2012
-
Ingår i: European Journal of Pediatrics. - : Springer Science and Business Media LLC. - 0340-6199 .- 1432-1076. ; 171:9, s. 1383-1387
-
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.
|
|
| 9. |
- Ljung, Rolf, et al.
(författare)
-
Genetic counselling of haemophilia carriers
- 2003
-
Ingår i: Seminars in Thrombosis and Hemostasis. - : Georg Thieme Verlag KG. - 1098-9064 .- 0094-6176. ; 29:1, s. 31-36
-
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.
|
|
| 10. |
- LJUNG, ROLF, et al.
(författare)
-
The impact of prenatal diagnosis on the incidence of haemophilia in Sweden
- 1995
-
Ingår i: Haemophilia. - : Wiley. - 1351-8216 .- 1365-2516. ; 1:3, s. 190-193
-
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.
|
|
