Search for dissertations about: "newborn screening thesis"

Showing result 21 - 25 of 32 swedish dissertations containing the words newborn screening thesis.

  1. 21. Posterior ocular malformations in children : teratological aspects

    Author : Kristina Teär Fahnehjelm; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Teratology; ocular malformations; visual impairment; anti-epileptic drugs; congenital infection; optic nerve hypoplasia; coloboma; magnetic resonance imaging; neonatal cholestasis; dried blood spots;

    Abstract : Posterior ocular malformations are common causes of visual impairment in Swedish children. The most frequent diagnoses within this group are optic nerve hypoplasia and optic nerve/chorioretinal coloboma. Genetic factors, teratogens like medical/addictive drugs or congenital infections and unknown factors may cause these malformations. READ MORE

  2. 22. Mode of delivery, epigenetic modulation and immune cell formation at birth

    Author : Titus Schlinzig; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Background: Birth by Cesarean section (CS) has been associated with a greater risk for immune disorders like allergy, asthma, type 1 diabetes, celiac disease, inflammatory bowel diseases, and cancer later in life. Although elective CS continues to increase rapidly, it is unclear if and how it may contribute to future health and disease. READ MORE

  3. 23. Mechanisms in disorders of sex development

    Author : Michela Barbaro; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : “Is it a boy or a girl?” This is usually the first question that parents have when their baby is born. Sometimes it is not possible to give an immediate answer. This is the case when the newborn presents ambiguous external genitalia and an immediate sex assignment is not possible. READ MORE

  4. 24. Neural stem cells and their contribution to neurogenesis in the adult mammalian brain

    Author : Stefan Momma; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : For a long time it was believed that neurogenesis in the mammalian central nervous system was restricted to the embryonic and early postnatal period. Almost four decades ago Altman and colleagues challenged this notion, but it took more than thirty years before new studies with refined methods convincingly demonstrated neurogenesis in the adult mammalian brain, including the adult monkey and human brain. READ MORE

  5. 25. Cholestasis in infants at risk

    Author : Jonas Teng; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Cholestasis is a condition when bile flow from the liver to the intestines is impaired. Unresolved, it may lead to liver transplantation or death. Overall, it affects 1 out of 2500 term infants, but is far more common in high-risk infants with other conditions such as prematurity and hemolytic disease of the fetus and newborn (HDFN). READ MORE