English
norskBlar i forfatter "Müller, Kai Ivar"
Viser treff 1-13 av 13
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ABCC9-related intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
(Journal article; Tidsskriftartikkel; Peer reviewed, 2019-10-01)Mutations in genes encoding K<sub>ATP</sub> channel subunits have been reported for pancreatic disorders and Cantú syndrome. Here, we report a syndrome in six patients from two families with a consistent phenotype of mild intellectual disability, similar facies, myopathy, and cerebral white matter hyperintensities, with cardiac systolic dysfunction present in the two oldest patients. Patients are ... -
Acceptability, feasibility, and cost of telemedicine for nonacute headaches: A randomized study comparing video and traditional consultations
(Journal article; Tidsskriftartikkel; Peer reviewed, 2016-05-30)<b>Backgr ound:</b> The feasibility of telemedicine in diagnosing and treating nonacute headaches, such as primary headaches (migraine and tension-type) and medication-overuse headaches has not been previously investigated. By eliminating the need of travel to specialists, telemedicine may of fer significant time and money ... -
Continuous positive airway pressure in cluster headache: A randomized, placebo-controlled, triple-blind, crossover study
(Journal article; Tidsskriftartikkel; Peer reviewed, 2023-01-09)Background - Oxygen inhalation aborts cluster headache attacks, and case reports show the effect of continuous positive airway pressure. The aim of this study was to investigate the prophylactic effect of continuous positive airway pressure in chronic cluster headache.<p> <p>Methods - This was a randomized placebo-controlled triple-blind crossover study using active and sham continuous positive ... -
Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)
(Journal article; Tidsskriftartikkel; Peer reviewed, 2022-11-25)We aimed to investigate the epidemiology and natural history of FKRP-related limb-girdle muscular dystrophy R9 (LGMDR9) in Norway. We identified 153 genetically confirmed subjects making the overall prevalence 2.84/100,000, the highest reported figure worldwide. Of the 153 subjects, 134 (88 %) were homozygous for FKRP c.826C>A giving a carrier frequency for this variant of 1/101 in Norway. Clinical ... -
Headache patients' satisfaction with telemedicine: a 12-month follow-up randomized non-inferiority trial
(Journal article; Tidsskriftartikkel; Peer reviewed, 2017-04-21)Background and purpose: We investigated non-acute headache patients’ long-term satisfaction with a telemedicine consultation and consultation preferences in northern Norway. We hypothesized that patients were not less satisfied with telemedicine than traditional consultations. We also examined the influence of gender, age and education on satisfaction. <br> <br> Methods: For 2.5 years, patients ... -
Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)
(Journal article; Tidsskriftartikkel; Peer reviewed, 2023-09-11)Limb-girdle muscular dystrophy R9 (LGMDR9) is a progressive and disabling genetic muscle disease. Sleep is relevant in the patient care as it impacts on health, functioning, and well-being. LGMDR9 may potentially afect sleep by physical or emotional symptoms, myalgia, or sleep-disordered breathing (SDB) through cardiorespiratory involvement. The objective was to investigate the occurrence of ... -
Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene
(Journal article; Tidsskriftartikkel; Peer reviewed, 2021-10-19)We present a retrospective 21-year follow-up of two sisters with X-linked biallelic CAG expansions in the androgen receptor (AR) gene causing Kennedy disease. Two sisters inherited CAG expansions from their mother who was a carrier and their father who had Kennedy disease. Genetic testing revealed alleles comprising 43/45, and 43/43 CAG repeats in the younger and older sister, respectively. They ... -
One-Year Remission Rate of Chronic Headache Comparing Video and Face-to-Face Consultations by Neurologist: Randomized Controlled Trial
(Journal article; Tidsskriftartikkel; Peer reviewed, 2021-12-13)Background: Chronic headache causing severe headache-related disability for those affected by the disease is under- or misdiagnosed in many cases and therefore requires easy access to a specialist for optimal health care management.<p> <p>Objective: The goal of the research is to determine whether video consultations are noninferior to face-to-face consultations in treating chronic headache ... -
The prevalence of hereditary neuromuscular disorders in Northern Norway
(Journal article; Tidsskriftartikkel; Peer reviewed, 2020-11-13)<i>Aim</i> - To investigate the point prevalence of hereditary neuromuscular disorders on January 1, 2020 in Northern Norway.<p> <p><i>Methods</i> - From January 1, 1999, until January 1, 2020, we screened medical and genetic hospital records in Northern Norway for hereditary neuromuscular disorders.<p> <p><i>Results</i> - We identified 542 patients with a hereditary neuromuscular disorder ... -
A randomized trial of telemedicine efficacy and safety for nonacute headaches
(Journal article; Tidsskriftartikkel; Peer reviewed, 2017-07-11)<p><i>Objective</i>: To evaluate long-term treatment efficacy and safety of one-time telemedicine consultations for nonacute headaches.</p> <p><i>Methods</i>: We randomized, allocated, and consulted nonacute headache patients via telemedicine (n = 200) or in a traditional manner (n = 202) in a noninferiority trial. Efficacy endpoints, assessed by questionnaires at 3 and 12 months, included change ... -
Sudden caffeine withdrawal triggers migraine—A randomized controlled trial
(Journal article; Tidsskriftartikkel; Peer reviewed, 2020-09-10)<i>Objective</i>: Assessing the effects of caffeine withdrawal on migraine.<p> <p><i>Background</i>: The effects of caffeine withdrawal on migraineurs are at large unknown.<p> <p><i>Methods</i>: This was a randomized, double-blind, crossover study (NCT03022838), designed to enroll 80 adults with episodic migraine and a daily consumption of 300–800 mg caffeine. Participants substituted their ... -
Telemedicine in the treatment of headache
(Doctoral thesis; Doktorgradsavhandling, 2017-12-12)Hodepine er en av de vanligste plager hos mennesket, og er også den hyppigste årsaken til at pasienter oppsøker helsevesenet. På grunn av det store geografiske dekningsområdet for to nevrologiske avdelinger i Nord-Norge, mangler mange hodepinepasienter tilgjengelighet til god spesialisthelsetjeneste. Mangel på hodepinespesialister og tungvinn tilgang til omsorg kan gi grobunn for feildiagnostisering, ... -
Video consultations in medication overuse headache. A randomized controlled trial
(Journal article; Tidsskriftartikkel; Peer reviewed, 2019-06-17)<i>Objective</i> - To test the hypothesis that the effect of video consultations is noninferior to traditional consultations in managing patients with overuse headache (MOH).<p> <p><i>Materials and Methods</i> - Patients were recruited from referrals to a neurological clinic. In a randomized controlled trial (RCT), headache burden measured by headache impact test (HIT‐6) and frequency of ...
