Sökning: "malformation"

Visar resultat 11 - 15 av 81 avhandlingar innehållade ordet malformation.

1. 11. Women's experiences and reactions when a fetal malformation is detected by ultrasound examination

   Författare :Nina Asplin; Susanne Georgsson Öhman; Hans Wessel; Lena Marions; Christine Rubertsson; Sophiahemmet Högskola; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Prenatal diagnosis; Ultrasound examination; Information; Decision-making; Prenatal depression; Postnatal depression; Anxiety; Attachment; Care; prenatal diagnosis;

   Sammanfattning : Background: Second trimester ultrasound examination among pregnant women in Sweden is almost universal. The detection of a fetal malformation on ultrasound puts health care providers and pregnant women in a difficult and precarious situation. LÄS MER

3. 12. The role of endoglin in vascular patterning and malformation across diverse vascular beds

   Författare :María García Collado; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : During development, numerous processes must be finely orchestrated to construct a functional vasculature, essential to sustain life. Hereditary haemorrhagic telangiectasia is a disease characterised by the development of arteriovenous malformations and it is caused in over 80% of the cases by mutations in either endoglin (ENG) or ALK1. LÄS MER

4. 13. Bladder and bowel dysfunction in children with anorectal malformations : Blås och tarmdysfunktion hos barn med anorektala missbildningar

   Författare :Helena Borg; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Bladder and bowel dysfunction; Anorectal malformations; Spinal cord malformation; Megarectosigmoid;

   Sammanfattning : Background: Bowel dysfunction is seen in all children with anorectal malformations (ARMs) and is strongly related to associated anomalies commonly found in these patients. The presence of a megarectosigmoid (MRS) further contributes to chronic constipation and overflow incontinence. LÄS MER

5. 14. Children with high and intermediate imperforate anus : aspects of care and psychosocial effects of the malformation

   Författare :Maria Öjmyr-Joelsson; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Imperforate anus; children; fecal incontinence; psychosocial; parental experiences; care.;

   Sammanfattning : The overall aim of this thesis was to investigate the experiences of children with high and intermediate imperforate anus and of their parents; how they have experienced care and treatment and what consequences the malformation involve for them. Materials: For Paper I three patients with high imperforate anus and their families were interviewed. LÄS MER

7. 15. Molecular Characterisation of Structural Chromosomal Abnormalities Associated with Congenital Disorders

   Författare :Mahmoud R. Mansouri; Niklas Dahl; Hans Van Bokhoven; Uppsala universitet; []
   Nyckelord :Genetics; Chromosomal abnormalities; Mental retardation; Hypospadias and anal malformation; Premature ovarian failure; Autism; Array-CGH; ZDHHC15; Genetik;

   Sammanfattning : Chromosomal abnormalities are defined as changes in the chromosome structure and fall in one of two categories. The first category is numerical alterations while the second category consists of structural abnormalities. Structural chromosomal abnormalities do not always interrupt genes in order to cause disease. LÄS MER