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Mitochondrial DNA defects were known to be associated with a wide spectrum of human diseases and patients might present a wide range of clinical features in various combinations. In the current study, we described a patient with psychomotor and neurodevelopmental delay, mild hyperintensity of posterior periventicular white matter, generalized clonic seizures, leukodystrophy, and congenital deafnes

Three independent cases of chronic haemolytic anaemia in Sweden have recently been demonstrated to be due to the unstable haemoglobin variant Hb Koln. The patients, all of whom have partially compensated chronic haemolytic anaemia, presented with aggravated haemolysis during acute infections in childhood. In one case, acute B19 parvovirus infection induced an aplastic crisis. The substitutions all

In wavefield signal apparition, acquisition with periodic variations in source activation parameters shifts all or part of a signal cone out to, e.g., the Nyquist wavenumber, enabling perfect separation of simultaneous-source (sim-source) data below a certain temporal frequency. Cyclic convolution in the spatial frequency domain is used to generalise the signal apparition concept to the case of ap

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Context:Patients with hypopituitarism have an increased standardized mortality rate. The basis for this has not been fully clarified.Objective:To investigate in detail the cause of death in a large cohort of patients with hypopituitarism subjected to long-term follow-up.Design and Methods:All-cause and cause-specific mortality in 1286 Swedish patients with hypopituitarism prospectively monitored i

Background: Nordic Lymphoma Group has conducted a phase ll trial in primary central nervous system lymphoma patients applying age-adjusted multi-agent immunochemotherapy regimen, which in elderly patients included temozolomide maintenance treatment. Design and Methods: Patients with newly diagnosed PCNSL aged 18-75 years were eligible. Sixty-six patients (median age 64 years) were enrolled. Two ag

Popular Abstract in Swedish Allt liv kräver energi. Energin kan komma från olika källor, såsom nedrytning av organiska eller oorganiska föreningar, värme eller ljus. Fysikens lagar säger oss att energi inte kan nyskapas eller förbrukas, bara omvandlas mellan olika former. På så sätt tillgodogör vi oss energin i mat när vi omvandlar kemiskt bunden energi till värme, då den förbränns i kroppens musk

We have carried out a comprehensive molecular mapping of PG-M/versican isoforms V0-V3 in adult human tissues and have specifically investigated how the expression of these isoforms is regulated in endothelial cells in vitro. A survey of 21 representative tissues highlighted a prevalence of V1 mRNA, demonstrated that the relative frequency of expression was V1>V2>V3greater than or equal toV2; and s