Remote patient monitoring should reduce mortality rates, improve care, and reduce costs. We present an overview of the available technologies for the remote monitoring of chronic obstructive pulmonary disease (COPD) patients, together with the most important medical information regarding COPD in a language that is adapted for engineers. Our aim is to bridge the gap between the technical and medical worlds and to facilitate and motivate future research in the field. We also present a justification, motivation, and explanation of how to monitor the most important parameters for COPD patients, together with pointers for the challenges that remain. Additionally, we propose and justify the importance of electrocardiograms (ECGs) and the arterial carbon dioxide partial pressure (PaCO2) as two crucial physiological parameters that have not been used so far to any great extent in the monitoring of COPD patients. We cover four possibilities for the remote monitoring of COPD patients: continuous monitoring during normal daily activities for the prediction and early detection of exacerbations and life-threatening events, monitoring during the home treatment of mild exacerbations, monitoring oxygen therapy applications, and monitoring exercise. We also present and discuss the current approaches to decision support at remote locations and list the normal and pathological values/ranges for all the relevant physiological parameters. The paper concludes with our insights into the future developments and remaining challenges for improvements to continuous remote monitoring systems. Graphical abstractᅟ

BackgroundMitochondrial diseases due to defective respiratory chain complex III (CIII) are relatively uncommon. The assembly of the eleven-subunit CIII is completed by the insertion of the Rieske iron-sulfur protein, a process for which BCS1L protein is indispensable. Mutations in the BCS1L gene constitute the most common diagnosed cause of CIII deficiency, and the phenotypic spectrum arising from mutations in this gene is wide.ResultsA case of CIII deficiency was investigated in depth to assess respiratory chain function and assembly, and brain, skeletal muscle and liver histology. Exome sequencing was performed to search for the causative mutation(s). The patient’s platelets and muscle mitochondria showed respiration defects and defective assembly of CIII was detected in fibroblast mitochondria. The patient was compound heterozygous for two novel mutations in BCS1L, c.306A > T and c.399delA. In the cerebral cortex a specific pattern of astrogliosis and widespread loss of microglia was observed. Further analysis showed loss of Kupffer cells in the liver. These changes were not found in infants suffering from GRACILE syndrome, the most severe BCS1L-related disorder causing early postnatal mortality, but were partially corroborated in a knock-in mouse model of BCS1L deficiency.ConclusionsWe describe two novel compound heterozygous mutations in BCS1L causing CIII deficiency. The pathogenicity of one of the mutations was unexpected and points to the importance of combining next generation sequencing with a biochemical approach when investigating these patients. We further show novel manifestations in brain, skeletal muscle and liver, including abnormality in specialized resident macrophages (microglia and Kupffer cells). These novel phenotypes forward our understanding of CIII deficiencies caused by BCS1L mutations.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-017-0624-2) contains supplementary material, which is available to authorized users.

Mitochondrial disorders cause energy failure and metabolic derangements. Metabolome profiling in patients and animal models may identify affected metabolic pathways and reveal new biomarkers of disease progression. Using liver metabolomics we have shown a starvation-like condition in a knock-in (Bcs1lc.232A>G) mouse model of GRACILE syndrome, a neonatal lethal respiratory chain complex III dysfunction with hepatopathy. Here, we hypothesized that a high-carbohydrate diet (HCD, 60% dextrose) will alleviate the hypoglycemia and promote survival of the sick mice. However, when fed HCD the homozygotes had shorter survival (mean ± SD, 29 ± 2.5 days, n = 21) than those on standard diet (33 ± 3.8 days, n = 30), and no improvement in hypoglycemia or liver glycogen depletion. We investigated the plasma metabolome of the HCD- and control diet-fed mice and found that several amino acids and urea cycle intermediates were increased, and arginine, carnitines, succinate, and purine catabolites decreased in the homozygotes. Despite reduced survival the increase in aromatic amino acids, an indicator of liver mitochondrial dysfunction, was normalized on HCD. Quantitative enrichment analysis revealed that glycine, serine and threonine metabolism, phenylalanine and tyrosine metabolism, and urea cycle were also partly normalized on HCD. This dietary intervention revealed an unexpected adverse effect of high-glucose diet in complex III deficiency, and suggests that plasma metabolomics is a valuable tool in evaluation of therapies in mitochondrial disorders.

ABSTRACTtion that leads to a modest partial loss of VHL activity since the affected residue is distant from the functional VHL domain. 17

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Results We found significantly higher serum ADMA levels but not serum hs-CRP levels in NBF when compared to BF group (p < 0.05). According to BMI data starting from the age of 12 months more overweight/ obese children were found in NBF children when compared to BF. Serum ADMA was inversely associated with HDL-cholesterol levels and breastfeeding duration in studied children (p < 0.05). Positive correlation was found between ADMA and body fat mass (p < 0.05). Conclusion In NBF children increased circulating ADMA is observed, however further studies are needed to assess whether breastfeeding duration affects body fat and other measures of body composition at older ages. Background and aims Anti cholinergic and sympathomimetic eye drops are widely used to achieve mydriasis. Normally systemic effects of these eye drops are ignorable but adverse events in preterm infants are reported. In this study during routine screening for retinopathy of prematurity (ROP), preterm infants were searched for the systemic effects of eye drops. Methods The standard protocol was to instil 3 drops per eye which is a mixture of short acting tropicamide 0.5% with long acting cyclopentolate 1% and phenylephrine 2.5% ophtalmic solution in equal volumes. Each drop instilled at a 15 min interval before examination. Body temperature, heart rate, respiration, blood pressure, spO2, presence of flashing were recorded three times; before the instillation of eye drops, just before the examination and after an hour. Parents were informed about the adverse side effects and presence of complaints were asked after 24 h with the telephone interview. Data were analysed by 2 twoway ANOVA and independent samples t-test. Results Forty eight (27 male+21 female) infants with birth weight 1498 ± 432(720-2500)g and gestational age 31,7 ± 3.3 (25-37)weeks were examined at postmentruel age of 41. 95 ± 4.74(34-58) weeks. Body temperature rised subsequently with each eye drop (p = 0.023). The change in other physiologic parameters were not statistically significant. Apnea over10 seconds were developed in 9 infants. Within 24 h gastrointestinal symptoms developed in 8, discomfort/sleeplessness in 22, hyperemia/discharge from the eye in 20 infants. Conclusion It was concluded that doctors must be aware of the the systemic effects of mydriatic eye drops used in screening examination for ROP and parents have to be informed about these effects. PO-0713 SYSTEMIC EFFECTS OF ANTICHOLINERGIC - SYMPATHOMIMETIC EYE DROPS DURING SCREENING FOR RETINOPATHY OF PREMATURITY

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