Sökning: "Congenital abnormalities"

Visar resultat 1 - 5 av 33 avhandlingar innehållade orden Congenital abnormalities.

  1. 1. 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

  2. 2. Altered embryonic environment and congenital malformations in diabetic pregnancy

    Författare :Parri Wentzel; Uppsala universitet; []
    Nyckelord :Abnormalities *etiology prevention control; Animals; Diabetes Mellitus; Experimental *pathology; Dietary Supplements; Female; Folic Acid *therapeutic use; Glucose *toxicity; Neural Tube Defects etiology prevention control; Pregnancy; Pregnancy in Diabetics *physiopathology; RNA genetics isolation purification; Rats; Research Support; Non-U.S. Gov t; Tail abnormalities embryology;

    Sammanfattning : .... LÄS MER

  3. 3. Thrombosis in Children

    Författare :Olof Rask; Malmö Institutionen för kliniska vetenskaper; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Child; Estradiol; Heart Defects; Congenital; Hemostasis; Protein C Inhibitor; Risk factors; Thrombophilia; Thromboembolism; Autoantibodies; Adolescent;

    Sammanfattning : Aims: The general objective was to further elucidate thromboembolic disease in children and thereby help improve the care of these patients. More specific aims were as follows: to determine what children are affected by thrombosis; to discern any gender or age differences related to thrombosis; to identify prothrombotic risk factors; to ascertain whether autoantibodies against coagulation proteins constitute a risk factor for childhood thrombosis; to study girls receiving estrogen treatment with regard to induced hemostatic changes and efficacy of the therapy; to investigate long-term effects on the hemostatic system in children subjected to heart surgery. LÄS MER

  4. 4. The health of the children in relation to paternal age, cancer, and medication

    Författare :Yahia Al-Jebari; Malmö Reproduktionsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Chemotherapy; Radiotherapy; Testicular cancer; Congenital abnormalities; Preterm and low birth weight; Medication;

    Sammanfattning : .... LÄS MER

  5. 5. Muscle diseases with damaged sarcomeres - causes and consequences

    Författare :Monica Ohlsson; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Nyckelord :congenital myopathy; nemaline myopathy; cap disease; hereditary myopathy with early respiratory failure; myofibrillar myopathy; ACTA1; TPM2; TPM3; TTN;

    Sammanfattning : Muscle diseases, also called myopathies, are usually defined as diseases where the pathology is confined to the muscle itself. This excludes diseases caused by structural abnormalities in the peripheral nerve, from the anterior horn cell to the neuromuscular junction. LÄS MER