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Biomedical subjects

Helge Stormorken

Publications and source records attributed to Helge Stormorken.

7 recordsLinked to original sources
PubMed2005

[Frequent urination--an important diagnostic marker in fibromyalgia].

BACKGROUND: Detailed studies of a family with a strong clustering of fibromyalgia revealed that the affected members had eight or more urinations per day and at least one per night. As this feature was not known to be an important symptom in this ailment, we carried out a questionnaire-based study. MATERIAL AND METHODS: Questionnaires were mailed to a random group of 285 subjects drawn from the member list of the Norwegian Fibromyalgia Association, and to 160 healthy females, free of urinary tract pains. Response rates were 70% and 74%. RESULTS: The fibromyalgia group reported 8 or more daily and 1 permanent nocturnal urinations; the corresponding figures for healthy females were 6 and 0.2. This corresponds to a sensitivity and specificity for fibromyalgia of 78 and 91% for daytime urinations, and to 89% and 92% for one or more permanent nocturia. INTERPRETATION: The study indicates that an abnormally high frequency of urinations is a characteristic feature in fibromyalgia and a useful diagnostic variable. It is also objectively verifiable by urodynamic investigation. The pattern is that of urge, sometimes with incontinence.

Adult↗
PubMed2004

A novel gene mutation in the 60s loop of human coagulation factor VII - inhibition of interdomain crosstalk.

A novel mutation in the factor VII gene resulting in procoagulant activity of 7.5% and antigen levels of 23% is presented. Single-stranded conformational polymorphism and DNA sequencing analysis revealed heterozygous shifts, and mutations were detected in exons 5, 7 and 8. The mutant L204P in exon 7 was novel, while the common polymorphisms, H115H and R353Q, were located in exons 5 and 8, respectively. The molecular effect of the L204P mutation was characterized using recombinant mammalian expression in Chinese hamster ovary cells. Low levels (4 ng/ml) of secreted mutant protein were found in transiently transfected cells compared to wild-type factor VII (83 ng/ml). Metabolic labeling demonstrated that the rate of mutant protein synthesis was similar to that of wild-type FVII, and the mutant protein accumulated intracellularly with no signs of increased degradation during a four-hour chase. No interaction between secreted P204 protein and immobilized soluble tissue factor was detected using surface plasmon reso-nance. The activation rate of recombinant mutant FVII protein was strongly reduced compared to wild-type FVII. A 9-fold reduction in the rate of FX activation was detected whereas Km was nearly the same for wild-type and the mutant. This slow rate was caused by a correspondingly lowered rate of P204 activation. A synthetic peptide sequence comprising amino acids 177-206 blocked binding of FVIIa to the TF-chip, and the subsequent factor X activation with an IC(50) value of 0.5 micro M in a chromogenic factor Xa assay. Additionally, evaluation of the peptide by surface plasmon resonance analysis resulted in inhibition of complex formation with an apparent K(I) of 7 micro M.

Acetylcysteine↗
PubMed2002

[Stormorken's syndrome].

In 1985, a new syndrome with the following characteristics was described: thrombopathia, thrombopenia, asplenia, miosis, headache, ichthyosis, dyslexia, muscle defect, and subsequently also hypocalcaemia. Skin and deep bleedings, leg spasms, disturbed dark vision and dyslexia are main worries. This paper describes these patients with a review of the investigations performed. Causes of the bleeding tendency are complex disturbances of the platelet membrane causing insufficient stability of the haemostatic plug, the nature of which is unresolved, but involves membrane scrambling. The muscle defect consists in tubular aggregates and high blood values of creatine kinase. A connection with the hypocalcaemia is possible, because increasing the ionic Ca with calcitriol significantly improves muscle function. Miosis is resistant to mydriatics and causes decreased dark vision, possibly also influencing dyslexia. The asplenia has little influence on immunocompetence, and the patients have survived 300 patient years without critical infections. The gene defect has not yet been unravelled.

Adult↗