Upsala journal of medical sciences
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Background: Mitochondrial disorders are heterogeneous clinical syndromes caused by defective activity in the mitochondrial respiratory chain, resulting in a faulty oxidative phosphorylation system. These inherited disorders are individually rare, and furthermore they are phenotypic variables. ⋯ Using whole-genome sequencing technique, compound heterozygous mutations of the VARS2 gene were revealed, with one previously unreported frameshift mutation. Conclusion: Our report extends the phenotypic spectrum of VARS2-related disorders with an initial presentation of epileptic encephalopathy and early death due to malignant arrhythmia.
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Background: Ulcerative colitis (UC) in patients with the severe disease primary sclerosing cholangitis (PSC) constitutes a distinct clinical phenotype (PSC-UC) with a high incidence of colorectal cancer. Today, PSC-UC diagnosis is built on clinical observations only. Tissue factor (TF) has a potential use in UC diagnostics, and also in colorectal cancer prognostication. ⋯ Stromal TF positivity was found exclusively in ongoing inflammation. Conclusion: Our study provides additional support for a divergent pathogenesis in PSC-UC, with an inflammatory environment that differs from classical UC. Stromal TF emerges as a new marker of colonic inflammation.
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Clinical trial results of phage treatment of bacterial infections show a low to moderate efficacy, and the variation in infection clearance between subjects within studies is often large. Phage therapy is complicated and introduces many additional components of variance as compared to antibiotic treatment. ⋯ This is a consequence of the great variation of phages, bacteria, and infections, which results in different experiments or trials being impossible to compare, and difficulties in estimating important parameter values in a quantitative and reproducible way. The limitations of phage therapy will have to be recognised and future research focussed on optimising infection clearance rates by e.g. selecting phages, bacteria, and target bacterial infections where the prospects of high efficacy can be anticipated, and by combining information from new mathematical modelling of in vivo pharmacokinetic and pharmacodynamic processes and quantitatively assessed experiments.
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Background: Patients with subarachnoid hemorrhage often have impaired consciousness and cannot regulate nutritional intakes themselves. Previous studies have demonstrated elevated energy expenditure in the acute phase, but it is not known whether the energy demand is constant during the first week after onset of the disease. In this study, we performed daily measurements of energy expenditure with indirect calorimetry during the first 7 days after aneurysmal subarachnoid hemorrhage in mechanically ventilated patients. ⋯ Urinary nitrogen excretion increased throughout the first week from initially low values. Conclusions: There is a dynamic course in energy expenditure in patients with aneurysmal subarachnoid hemorrhage, with increasing metabolic demand during the first week of the disease. Indirect calorimetry could be used more often to help provide an adequate amount of energy.