Sökning: "21 -hydroxylase deficiency"

Visar resultat 1 - 5 av 35 avhandlingar innehållade orden 21 -hydroxylase deficiency.

  1. 1. Upper limb reduction deficiencies in Swedish children : classification, prevalence and function with myoelectric prostheses

    Författare :Liselotte M. N. Hermansson; Ann-Christine Eliasson; Ann Nachemson; Karolinska institutet Institutionen för kvinnors och barns hälsa; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; children; upper limb; deficiency; register validation; scoliosis; arm prosthesis; measurement; occupational therapy; psychopathology; depression; Medicine; Medicin; Children; upper limb; deficiency; register validation; scoliosis; arm prosthesis; measurement; occupational therapy; psychopathology; depression;

    Sammanfattning : Upper limb reduction deficiency (ULRD) is a rare condition that has been known ever since the 6th century B.C. This is a lifelong deficiency which in an afflicted child can lead to practical limitations, social restrictions and physical problems. LÄS MER

  2. 2. Clinical and immunological aspects of IgG subclass deficiency : Predictors for the need of immunoglobulin replacement therapy

    Författare :Per Wågström; Charlotte Dahle; Sofia N. Nyström; Åsa Nilsdotter-Augustinsson; Mats Nilsson; Ola Winqvist; Linköpings universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Immunoglobulin G subclass deficiency; inflammation; lymphocytes; fatigue; co-morbidity; immunoglobulin G replacement therapy;

    Sammanfattning : Background: Predominantly antibody deficiencies (PAD) are inborn errors of immunity, and associate with increased susceptibility to infections. Life-long immunoglobulin replacement therapy (IgRT) is introduced based on Ig-levels and the frequencies and severity of infections. LÄS MER

  3. 3. Mismatch repair deficiency in colorectal cancer : prognosis and prediction for basic treatment strategies

    Författare :Ioannis Gkekas; Jan Novotny; Karin Strigård; Richard Palmqvist; Ulf Gunnarsson; Christian Sturesson; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; colorectal cancer; defective mismatch repair; prognosis and prediction; Oncology; onkologi;

    Sammanfattning : Colorectal cancer (CRC) remains a significant healthcare problem worldwide, being the third most common cancer and the fourth most frequent cause of cancer death. Environmental and dietary factors such as alcohol abuse, cigarette smoking, and genetic predisposition seem to constitute the main aetiologies. LÄS MER

  4. 4. Clinical consequences of pancreatic exocrine insufficiency

    Författare :Aleksandra Hedström; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Background: Chronic pancreatitis (CP) is characterized by a chronic inflammation with fibrosis and irreversible morphological changes that can result in permanent structural changes with a loss of exocrine and endocrine pancreas function. Exocrine dysfunction leads to reduced production of pancreatic digestive enzymes which is the reason of maldigestion and malabsorption of ingested nutrients like fats, microelements, vitamins and proteins which can lead to osteopathy. LÄS MER

  5. 5. On Generation and Applications of High-Density Protein Microarrays

    Författare :Ronald Sjöberg; Peter Nilsson; Michael Taussig; KTH; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : Affinity proteomics has experienced rapid development over the last two decades and one of the most promising platforms to emerge are the protein microarrays. The combination of affinity reagents and miniaturisation enables assays for simultaneous high throughput and sensitive protein analysis. LÄS MER