Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability

“A very orderly retreat”: Democratic transition in East Germany, 1989-90

East Germany's 1989-90 democratisation is among the best known of East European transitions, but does not lend itself to comparative analysis, due to the singular way in which political reform and democratic consolidation were subsumed by Germany's unification process. Yet aspects of East Germany's democratisation have proved amenable to comparative approaches. This article reviews the comparative literature that refers to East Germany, and finds a schism between those who designate East Germany's transition “regime collapse” and others who contend that it exemplifies “transition through extrication”. It inquires into the merits of each position and finds in favour of the latter. Drawing on primary and secondary literature, as well as archival and interview sources, it portrays a communist elite that was, to a large extent, prepared to adapt to changing circumstances and capable of learning from “reference states” such as Poland. Although East Germany was the Soviet state in which the positions of existing elites were most threatened by democratic transition, here too a surprising number succeeded in maintaining their position while filing across the bridge to market society. A concluding section outlines the alchemy through which their bureaucratic power was transmuted into property and influence in the “new Germany”

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

Idiopathic congenital nystagmus (ICN) is characterised by involuntary, periodic, predominantly horizontal, oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 ICN singleton cases (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina suggesting a specific role in the control of eye movement and gaze stability

High rate anaerobic treatment of wastewaters - two pilot studies

Anaerobic technology is used extensively for the treatment of food, meat and agricultural-based industrial wastewaters. Historically, large completly mixed anaerobic digesters much like sewage sludge digesters were used. More recently the use of high rate fixed film and sludge-blanket reactors has gained popularity. These reactors require low land area, achieve high loading rates and are cost-effective with energy recovery. There is now a significant data base, both pilot and full-scale, indicating that high-rate anaerobic technology is a sound option for the treatment of high strength industrial wastewaters. Even more encouraging have been the very recent advances in reactor design, specifically the development of a hybrid reactor, which combines fixed film and suspended growth reactor systems. This technology is effectively treating noxious wastewaters from the pulp and paper industry as well as wastewater generated in the food and agricultural-based industries. To assess and verify the appropriateness of design criteria of the hybrid reactor, especially for the treatment of high solids and O&G wastewaters, an R&D program was conducted to develop and optimise, via pilot plant testing, a hybrid reactor system for treatment of wastewater from an abattoir and septage treatment plant. A 1.3 m3 hybrid anaerobic pilot plant reactor was designed and built in March 1989. It was commissioned and operated for a 9 month period on the wastewater discharged from an abattoir and a 5 month period on the effluent from the septage treatment plant. The reactor was sized to minimise the effects of scale up with an active height of 3.5 m Design of the pilot plant, containing a suspended bed of bacteria at the bottom and a fixed film system in the top section, was based on COD spatial loading rate of about 6 kg/m3 reactor volume/day, upflow velocity 4 hr, inlet nozzle velocity >1 m/s, temperature 36°C, and pH between 6.8 and 7.2. The reactor was designed to provide recycle of effluent and/or sludge. It was fully instrumented with a temperature and pH control system. The reactor was seeded with sludge from an anaerobic abattoir lagoon. Feed and effluent samples were taken to develop removal efficiency data and the sludge was measured for biological activity. Gas was analysed for flow and chemical constituents (CH4, CO2, H2S). The results of the pilot trial at the abattoir indicated that a spatial organic loading of 8 kg COD/m3 of reactor volume per day could be sustained. This exceeded original design value of 5.7 kg/m3/d. Removal efficiencies were within the range of original design criteria with achievable values of 70%, 75%, 65%, 70% for COD, BOD5, TSS and Oil and Grease respectively. Post settling of the effluent from the reactor allowed for removal efficiencies of 80, 90, 85 and 85% respectively, which is higher than total COD removals utilising a UASB high rate reactor. Hydraulic requirements were achieved but it was found more appropriate to utilise a HRT of >5 hours to achieve the removal efficiencies required. The gas production was calculated at 0.3 m3 per kg COD destroyed (c.f. design value of 0.25 m3/kg COD4). The sludge production was estimated at 0.15 kg sludge per kg BOD5 destroyed. The test results show that the wastewater produced from the abattoir was amenable to high rate anaerobic treatment and that post settling of the effluent provides for further improvement in effluent quality. A full scale plant was thus designed for a spatial COD loading rate of 8 kg/m3/d, to achieve removal efficencies of COD, BOD5, TSS and oil and grease of 80, 90, 85, and 85% respectively. The reactors were sized as 3 cylindrical tanks 3.5 m high and 7.1 m diameter. A full scale system at the abattoir was costed at $1.3 million. This would save$370,000 per annum in sewer discharge and offer an energy credit of $63,000 per annum. The operating costs for such a system would be$75,000 per annum. However, the existing DAF units can be shut down, saving the abattoir $85,000 per annum in operating costs. Thus, installation of a hybrid reactor system can provide a nett annual credit of roughly$440,000, or a payback period of less than 3 years. Treatment of the septage plant effluent was possible via high rate anaerobic treatment as long as tight pH control and separation of industrial wastewaters containing high sulphate and heavy metals were excluded from the feed. A full scale plant was designed with removal efficiencies of 70, 75, 85 and 85% of COD, BOD5, TSS and oil and grease respectively, at a spatial COD loading rate of 7 kg/m3/d. To achieve this a single cylindrical reactor was chosen with a height of 5.8 m and diameter of 6 m with an HRT of >7 hours. A full scale pretreatment system was costed at $280,000 and would offer savings of around$150,000 per annum in sewer discharge costs. Annual operating costs would be $60,000, thus overall payback period is also about 3 years. The hybrid pilot plant reactor showed its suitability to treat both a slaughterhouse and septage plant effluent at loading rates which made the system a cost effective method to pretreat these wastewaters prior to sewer discharge to reduce trade waste discharge fees and generate a fuel (biogas) which could be utilised to supplement plant energy requirements. The hybrid system was shown to be particularly suitable for handling high oil and grease content and be capable of relatively rapid recovery from toxic shocks and always maintain a low solids content in the final effluent

The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus

Periodic alternating nystagmus consists of involuntary oscillations of the eyes with cyclical changes of nystagmus direction. It can occur during infancy (e.g. idiopathic infantile periodic alternating nystagmus) or later in life. Acquired forms are often associated with cerebellar dysfunction arising due to instability of the optokinetic-vestibular systems. Idiopathic infantile periodic alternating nystagmus can be familial or occur in isolation; however, very little is known about the clinical characteristics, genetic aetiology and neural substrates involved. Five loci (NYS1-5) have been identified for idiopathic infantile nystagmus; three are autosomal (NYS2, NYS3 and NYS4) and two are X-chromosomal (NYS1 and NYS5). We previously identified the FRMD7 gene on chromosome Xq26 (NYS1 locus); mutations of FRMD7 are causative of idiopathic infantile nystagmus influencing neuronal outgrowth and development. It is unclear whether the periodic alternating nystagmus phenotype is linked to NYS1, NYS5 (Xp11.4-p11.3) or a separate locus. From a cohort of 31 X-linked families and 14 singletons (70 patients) with idiopathic infantile nystagmus we identified 10 families and one singleton (21 patients) with periodic alternating nystagmus of which we describe clinical phenotype, genetic aetiology and neural substrates involved. Periodic alternating nystagmus was not detected clinically but only on eye movement recordings. The cycle duration varied from 90 to 280 s. Optokinetic reflex was not detectable horizontally. Mutations of the FRMD7 gene were found in all 10 families and the singleton (including three novel mutations). Periodic alternating nystagmus was predominantly associated with missense mutations within the FERM domain. There was significant sibship clustering of the phenotype although in some families not all affected members had periodic alternating nystagmus. In situ hybridization studies during mid-late human embryonic stages in normal tissue showed restricted FRMD7 expression in neuronal tissue with strong hybridization signals within the afferent arms of the vestibulo-ocular reflex consisting of the otic vesicle, cranial nerve VIII and vestibular ganglia. Similarly within the afferent arm of the optokinetic reflex we showed expression in the developing neural retina and ventricular zone of the optic stalk. Strong FRMD7 expression was seen in rhombomeres 1 to 4, which give rise to the cerebellum and the common integrator site for both these reflexes (vestibular nuclei). Based on the expression and phenotypic data, we hypothesize that periodic alternating nystagmus arises from instability of the optokinetic-vestibular systems. This study shows for the first time that mutations in FRMD7 can cause idiopathic infantile periodic alternating nystagmus and may affect neuronal circuits that have been implicated in acquired forms

Effect of Hospital and Surgeon Case Volume on Perioperative Quality of Care and Short-term Outcomes After Radical Cystectomy for Muscle-invasive Bladder Cancer: Results From a European Tertiary Care Center Cohort

This prospective multicenter study analyzed the effect of hospital and surgeon case volume on perioperative quality of care and short-term complications and mortality in 479 patients undergoing radical cystectomy for bladder cancer. We found that hospital volume might represent an at least equally important factor regarding postoperative complications as the surgeon case volume itself at European tertiary care centers. Background Case volume has been suggested to affect surgical outcomes in different arrays of procedures. We aimed to delineate the relationship between case volume and surgical outcomes and quality of care criteria of radical cystectomy (RC) in a prospectively collected multicenter cohort. Patients and Methods This was a retrospective analysis of a prospectively collected European cohort of patients with bladder cancer treated with RC in 2011. We relied on 479 and 459 eligible patients with available information on hospital case volume and surgeon case volume, respectively. Hospital case volume was divided into tertiles, and surgeon volume was dichotomized according to the median annual number of surgeries performed. Binomial generalized estimating equations controlling for potential known confounders and inter-hospital clustering assessed the independent association of case volume with short-term complications and mortality, as well as the fulfillment of quality of care criteria. Results The high-volume threshold for hospitals was 45 RCs and, for high-volume surgeons, was > 15 cases annually. In adjusted analyses, high hospital volume remained an independent predictor of fewer 30-day (odds ratio, 0.34; P = .002) and 60- to 90-day (odds ratio, 0.41; P = .03) major complications but not of fulfilling quality of care criteria or mortality. No difference between surgeon volume groups was noted for complications, quality of care criteria, or mortality after adjustments. Conclusion The coordination of care at high-volume hospitals might confer a similar important factor in postoperative outcomes as surgeon case volume in RC. This points to organizational elements in high-volume hospitals that enable them to react more appropriately to adverse events after surgery. (C) 2017 Elsevier Inc. All rights reserved