Lowe syndrome

Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. It is a uncommon, panethnic, X-linked disease, with estimated prevalence in the general population of approximately 1 in 500,000. Bilateral cataract and severe hypotonia are present at birth. In the subsequent weeks or months, a proximal renal tubulopathy (Fanconi-type) becomes evident and the ocular picture may be complicated by glaucoma and cheloids. Psychomotor retardation is evident in childhood, while behavioural problems prevail and renal complications arise in adolescence. The mutation of the gene OCRL1 localized at Xq26.1, coding for the enzyme phosphatidylinositol (4,5) bisphosphate 5 phosphatase, PtdIns (4,5)P2, in the trans-Golgi network is responsible for the disease. Both enzymatic and molecular testing are available for confirmation of the diagnosis and for prenatal detection of the disease. The treatment includes: cataract extraction, glaucoma control, physical and speech therapy, use of drugs to address behavioural problems, and correction of the tubular acidosis and the bone disease with the use of bicarbonate, phosphate, potassium and water. Life span rarely exceeds 40 years

The gait and balance of patients with diabetes can be improved: a randomised controlled trial

Item does not contain fulltextAIMS/HYPOTHESIS: Gait characteristics and balance are altered in diabetic patients. Little is known about possible treatment strategies. This study evaluates the effect of a specific training programme on gait and balance of diabetic patients. METHODS: This was a randomised controlled trial (n=71) with an intervention (n=35) and control group (n=36). The intervention consisted of physiotherapeutic group training including gait and balance exercises with function-orientated strengthening (twice weekly over 12 weeks). Controls received no treatment. Individuals were allocated to the groups in a central office. Gait, balance, fear of falls, muscle strength and joint mobility were measured at baseline, after intervention and at 6-month follow-up. RESULTS: The trial is closed to recruitment and follow-up. After training, the intervention group increased habitual walking speed by 0.149 m/s (p<0.001) compared with the control group. Patients in the intervention group also significantly improved their balance (time to walk over a beam, balance index recorded on Biodex balance system), their performance-oriented mobility, their degree of concern about falling, their hip and ankle plantar flexor strength, and their hip flexion mobility compared with the control group. After 6 months, all these variables remained significant except for the Biodex sway index and ankle plantar flexor strength. Two patients developed pain in their Achilles tendon: the progression for two related exercises was slowed down. CONCLUSIONS/INTERPRETATION: Specific training can improve gait speed, balance, muscle strength and joint mobility in diabetic patients. Further studies are needed to explore the influence of these improvements on the number of reported falls, patients' physical activity levels and quality of life. TRIAL REGISTRATION: ClinicalTrials.gov NCT00637546 FUNDING: This work was supported by the Swiss National Foundation (SNF): PBSKP-123446/1/1 maart 201

Understanding the rapid summer warming and changes in temperature extremes since the mid-1990s over Western Europe

Analysis of observations indicates that there was a rapid increase in summer (June-August, JJA) mean surface air temperature (SAT) since the mid-1990s over Western Europe. Accompanying this rapid warming are significant increases in summer mean daily maximum temperature, daily minimum temperature, annual hottest day temperature and warmest night temperature, and an increase in frequency of summer days and tropical nights, while the change in the diurnal temperature range (DTR) is small. This study focuses on understanding causes of the rapid summer warming and associated temperature extreme changes. A set of experiments using the atmospheric component of the state-of-the-art HadGEM3 global climate model have been carried out to quantify relative roles of changes in sea surface temperature (SST)/sea ice extent (SIE), anthropogenic greenhouse gases (GHGs), and anthropogenic aerosols (AAer). Results indicate that the model forced by changes in all forcings reproduces many of the observed changes since the mid-1990s over Western Europe. Changes in SST/SIE explain 62.2% ± 13.0% of the area averaged seasonal mean warming signal over Western Europe, with the remaining 37.8% ± 13.6% of the warming explained by the direct impact of changes in GHGs and AAer. Results further indicate that the direct impact of the reduction of AAer precursor emissions over Europe, mainly through aerosol-radiation interaction with additional contributions from aerosol-cloud interaction and coupled atmosphere-land surface feedbacks, is a key factor for increases in annual hottest day temperature and in frequency of summer days. It explains 45.5% ± 17.6% and 40.9% ± 18.4% of area averaged signals for these temperature extremes. The direct impact of the reduction of AAer precursor emissions over Europe acts to increase DTR locally, but the change in DTR is countered by the direct impact of GHGs forcing. In the next few decades, greenhouse gas concentrations will continue to rise and AAer precursor emissions over Europe and North America will continue to decline. Our results suggest that the changes in summer seasonal mean SAT and temperature extremes over Western Europe since the mid-1990s are most likely to be sustained or amplified in the near term, unless other factors intervene

Increasing biomass resource availability through supply chain analysis

Increased inclusion of biomass in energy strategies all over the world means that greater mobilisation of biomass resources will be required to meet demand. Strategies of many EU countries assume the future use of non-EU sourced biomass. An increasing number of studies call for the UK to consider alternative options, principally to better utilise indigenous resources. This research identifies the indigenous biomass resources that demonstrate the greatest promise for the UK bioenergy sector and evaluates the extent that different supply chain drivers influence resource availability. The analysis finds that the UK's resources with greatest primary bioenergy potential are household wastes (>115 TWh by 2050), energy crops (>100 TWh by 2050) and agricultural residues (>80 TWh by 2050). The availability of biomass waste resources was found to demonstrate great promise for the bioenergy sector, although are highly susceptible to influences, most notably by the focus of adopted waste management strategies. Biomass residue resources were found to be the resource category least susceptible to influence, with relatively high near-term availability that is forecast to increase – therefore representing a potentially robust resource for the bioenergy sector. The near-term availability of UK energy crops was found to be much less significant compared to other resource categories. Energy crops represent long-term potential for the bioenergy sector, although achieving higher limits of availability will be dependent on the successful management of key influencing drivers. The research highlights that the availability of indigenous resources is largely influenced by a few key drivers, this contradicting areas of consensus of current UK bioenergy policy

ICAR: endoscopic skull‐base surgery

n/

Outcomes in young adults with acute ischemic stroke undergoing endovascular thrombectomy: A real-world multicenter experience

Endovascular thrombectomy (EVT) is the standard of care for anterior circulation acute ischemic stroke (AIS) with large vessel occlusion (LVO). Young patients with AIS-LVO have distinctly different underlying stroke mechanisms and etiologies. Much is unknown about the safety and efficacy of EVT in this population of young AIS-LVO patients. All consecutive AIS-LVO patients aged 50 years and below were included in this multicenter cohort study. The primary outcome measured was functional recovery at 90 days, with modified Rankin Scale of 0-2 deemed as good functional outcome. A total of 275 AIS-LVO patients that underwent EVT from 10 tertiary centers in Germany, Sweden, Singapore, and Taiwan were included. Successful reperfusion was achieved in 85.1% (234/275). Good functional outcomes were achieved in 66.0% (182/275). Arterial dissection was the most prevalent stroke etiology (42/195, 21.5%). National Institutes of Health Stroke Scale (NIHSS) score at presentation was inversely related to good functional outcomes (aOR: 0.92, 95% CI: 0.88-0.96 per point increase, p < 0.001). Successful reperfusion (aOR: 3.22, 95% CI: 1.44-7.21, p = 0.005), higher ASPECTS (aOR: 1.21, 95% CI: 1.01-1.44, p = 0.036), and bridging intravenous thrombolysis (aOR: 2.37, 95% CI: 1.29-4.34, p = 0.005) independently predicted good functional outcomes. Successful reperfusion was inversely associated with in-hospital mortality (aOR: 0.14, 95% CI: 0.03-0.57, p = 0.006). History of hypertension strongly predicted in-hospital mortality (aOR: 4.59, 95% CI: 1.10-19.13, p = 0.036). While differences in functional outcomes exist across varying stroke aetiologies, high rates of successful reperfusion and good outcomes are generally achieved in young AIS-LVO patients undergoing EVT