Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

Startle disease is a rare, potentially fatal neuromotor disorder characterized by exaggerated startle reflexes and hypertonia in response to sudden unexpected auditory, visual or tactile stimuli. Mutations in the GlyR alpha(1) subunit gene (GLRA1) are the major cause of this disorder, since remarkably few individuals with mutations in the GlyR beta subunit gene (GLRB) have been found to date. Systematic DNA sequencing of GLRB in individuals with hyperekplexia revealed new missense mutations in GLRB, resulting in M177R, L285R and W310C substitutions. The recessive mutation M177R results in the insertion of a positively-charged residue into a hydrophobic pocket in the extracellular domain, resulting in an increased EC50 and decreased maximal responses of alpha(1)beta GlyRs. The de novo mutation L285R results in the insertion of a positively-charged side chain into the pore-lining 9' position. Mutations at this site are known to destabilize the channel closed state and produce spontaneously active channels. Consistent with this, we identified a leak conductance associated with spontaneous GlyR activity in cells expressing alpha(1)beta(L285R) GlyRs. Peak currents were also reduced for alpha(1)beta(L285R) GlyRs although glycine sensitivity was normal. W310C was predicted to interfere with hydrophobic side-chain stacking between M1, M2 and M3. We found that W310C had no effect on glycine sensitivity, but reduced maximal currents in alpha(1)beta GlyRs in both homozygous (alpha(1)beta(W310C)) and heterozygous (alpha(1)beta beta(W310C)) stoichiometries. Since mild startle symptoms were reported in W310C carriers, this may represent an example of incomplete dominance in startle disease, providing a potential genetic explanation for the 'minor' form of hyperekplexia. (C) 2012 Elsevier Inc. All rights reserved

Elective Cancer Surgery in COVID-19-Free Surgical Pathways During the SARS-CoV-2 Pandemic: An International, Multicenter, Comparative Cohort Study.

PURPOSE: As cancer surgery restarts after the first COVID-19 wave, health care providers urgently require data to determine where elective surgery is best performed. This study aimed to determine whether COVID-19-free surgical pathways were associated with lower postoperative pulmonary complication rates compared with hospitals with no defined pathway. PATIENTS AND METHODS: This international, multicenter cohort study included patients who underwent elective surgery for 10 solid cancer types without preoperative suspicion of SARS-CoV-2. Participating hospitals included patients from local emergence of SARS-CoV-2 until April 19, 2020. At the time of surgery, hospitals were defined as having a COVID-19-free surgical pathway (complete segregation of the operating theater, critical care, and inpatient ward areas) or no defined pathway (incomplete or no segregation, areas shared with patients with COVID-19). The primary outcome was 30-day postoperative pulmonary complications (pneumonia, acute respiratory distress syndrome, unexpected ventilation). RESULTS: Of 9,171 patients from 447 hospitals in 55 countries, 2,481 were operated on in COVID-19-free surgical pathways. Patients who underwent surgery within COVID-19-free surgical pathways were younger with fewer comorbidities than those in hospitals with no defined pathway but with similar proportions of major surgery. After adjustment, pulmonary complication rates were lower with COVID-19-free surgical pathways (2.2% v 4.9%; adjusted odds ratio [aOR], 0.62; 95% CI, 0.44 to 0.86). This was consistent in sensitivity analyses for low-risk patients (American Society of Anesthesiologists grade 1/2), propensity score-matched models, and patients with negative SARS-CoV-2 preoperative tests. The postoperative SARS-CoV-2 infection rate was also lower in COVID-19-free surgical pathways (2.1% v 3.6%; aOR, 0.53; 95% CI, 0.36 to 0.76). CONCLUSION: Within available resources, dedicated COVID-19-free surgical pathways should be established to provide safe elective cancer surgery during current and before future SARS-CoV-2 outbreaks

Elective cancer surgery in COVID-19-free surgical pathways during the SARS-CoV-2 pandemic: An international, multicenter, comparative cohort study

PURPOSE As cancer surgery restarts after the first COVID-19 wave, health care providers urgently require data to determine where elective surgery is best performed. This study aimed to determine whether COVID-19–free surgical pathways were associated with lower postoperative pulmonary complication rates compared with hospitals with no defined pathway. PATIENTS AND METHODS This international, multicenter cohort study included patients who underwent elective surgery for 10 solid cancer types without preoperative suspicion of SARS-CoV-2. Participating hospitals included patients from local emergence of SARS-CoV-2 until April 19, 2020. At the time of surgery, hospitals were defined as having a COVID-19–free surgical pathway (complete segregation of the operating theater, critical care, and inpatient ward areas) or no defined pathway (incomplete or no segregation, areas shared with patients with COVID-19). The primary outcome was 30-day postoperative pulmonary complications (pneumonia, acute respiratory distress syndrome, unexpected ventilation). RESULTS Of 9,171 patients from 447 hospitals in 55 countries, 2,481 were operated on in COVID-19–free surgical pathways. Patients who underwent surgery within COVID-19–free surgical pathways were younger with fewer comorbidities than those in hospitals with no defined pathway but with similar proportions of major surgery. After adjustment, pulmonary complication rates were lower with COVID-19–free surgical pathways (2.2% v 4.9%; adjusted odds ratio [aOR], 0.62; 95% CI, 0.44 to 0.86). This was consistent in sensitivity analyses for low-risk patients (American Society of Anesthesiologists grade 1/2), propensity score–matched models, and patients with negative SARS-CoV-2 preoperative tests. The postoperative SARS-CoV-2 infection rate was also lower in COVID-19–free surgical pathways (2.1% v 3.6%; aOR, 0.53; 95% CI, 0.36 to 0.76). CONCLUSION Within available resources, dedicated COVID-19–free surgical pathways should be established to provide safe elective cancer surgery during current and before future SARS-CoV-2 outbreaks

A dehydrated space-weathered skin cloaking the hydrated interior of Ryugu

Without a protective atmosphere, space-exposed surfaces of airless Solar System bodies gradually experience an alteration in composition, structure and optical properties through a collective process called space weathering. The return of samples from near-Earth asteroid (162173) Ryugu by Hayabusa2 provides the first opportunity for laboratory study of space-weathering signatures on the most abundant type of inner solar system body: a C-type asteroid, composed of materials largely unchanged since the formation of the Solar System. Weathered Ryugu grains show areas of surface amorphization and partial melting of phyllosilicates, in which reduction from Fe3+ to Fe2+ and dehydration developed. Space weathering probably contributed to dehydration by dehydroxylation of Ryugu surface phyllosilicates that had already lost interlayer water molecules and to weakening of the 2.7 µm hydroxyl (–OH) band in reflectance spectra. For C-type asteroids in general, this indicates that a weak 2.7 µm band can signify space-weathering-induced surface dehydration, rather than bulk volatile loss

Uwarunkowania gospodarki wodnej na zdrenowanych pastwiskach Rowniny Sepolskiej. Czesc I.Warunki meteorologiczne

Omówiono kształtowanie się warunków atmosferycznych rzutujących na zmienność stanów wody gruntowej i wilgotności gleby w latach 1999-2001 na Równinie Sępoplskiej w pobliżu Lidzbarka Warmińskiego na użytkach zielonych położonych na czarnych ziemiach. Średnia temperatura powietrza w Lidzbarku Warmińskim w wieloleciu 1971-2000 wynosiła 7,2°C. Występowało w nim 10 lat o charakterze wilgotnym, 9 lat normalnych oraz 11 lat o charakterze suchym, przy czym lata 1975, 1976 i 1982 można zaklasyfikować jako bardzo suche. W trakcie prowadzonych badań stosunków powietrzno-wodnych gleb dwa lata były wilgotne o sumach opadów atmosferycznych wynoszących odpowiednio 792 mm w 1999 roku i 750 mm w 2001 roku. W 2000 roku wystąpiły jednocześnie dwa niekorzystne dla kształtowania zasobów wodnych w glebie elementy meteorologiczne: suchy charakter roku i wysoka średnia temperatura powietrza. We wspomnianym roku deficyt opadów występował w przeważającej części okresu wegetacyjnego, a średnia wartość wskaźnika klimatycznego bilansu wodnego wynosiła -30 mm.The first part of the paper presents the variation in groundwater table and soil moisture of a grassland area in relation to air conditions in the Sępopolska Plain near the town of Lidzbark Warmiński for the years 1999-2001. In the period of 1971-2000 the average air temperature for Lidzbark Warmiński amounted to 7.2°C there were 10 wet years, 9 years of average humidity and 11 dry years. Extremely dry were the years of 1975, 1976 and 1982. Within the period of research two years were humid with the precipitation sums 792 mm in 1999 and 750 mm in 2001. Two meteorological elements, unfavorable for water reserves in the soil: dry year and high average air temperature, occurred simultaneously in 2000. In that year, the deficiency in precipitation prevailed during the vegetation period and the climatic index in the water balance amounted to -30 mm

Uwarunkowania gospodarki wodnej na zdrenowanych pastwiskach Rowniny Sepolskiej. Czesc II.Zmiennosc stanow wody gruntowej i wilgotnosci gleby

Badania przeprowadzono w latach 1999-2001 na Równinie Sępoplskiej w pobliżu Lidzbarka Warmińskiego na użytkach zielonych położonych na czarnych ziemiach. Wahania zwierciadła wody gruntowej w okresie zimowo-wiosennym zależały od ilości opadów atmosferycznych oraz występowania okresów z temperaturami ujemnymi, podczas których opady były retencjonowane pod postacią śniegu na powierzchni terenu i okresów z temperaturami dodatnimi, które tę wodę uruchamiały. Brak zabiegów zwiększających intensywność dopływu wody do sieci drenarskiej podczas realizacji inwestycji, było przyczyną częstego występowania w okresach zimowo-wiosennych wody gruntowej płytko pod powierzchnią terenu. W okresie wegetacyjnym 2000 roku zanotowano małą ilość opadów atmosferycznych (mniejszą od średniej sumy z porównywanego wielolecia o 114 mm), wysoką średnią temperaturę powietrza (wyższą o 1,5°C od średniej z wielolecia) oraz parowanie terenowe. Elementy te spowodowały spadek zapasów wody w glebie w warstwie 0-50 cm do poziomu wody trudno dostępnej, a nawet niedostępnej dla roślin oraz znaczne obniżenie się zwierciadła wód gruntowych w badanej zlewni, które we wrześniu w zależności od położenia w rzeźbie terenu osiągnęło głębokość od 115 cm p.p.t. do 284 cm p.p.t. Najwyższy poziom zwierciadła wody gruntowej stwierdzono u podnóża zboczy, a na zboczach układał się w zależności od wysokości położenia punktów pomiarowych w terenie: im wyżej był położony piezometr, tym głębiej występował poziom wody.The investigations on grasslands located on black earths were carried out in the Sępopolska Plain near the town of Lidzbark Warmiński in the years 1999-2001. Fluctuations of groundwater level in the winter-spring period depended on precipitation amounts and periods with minus air temperatures when snow retention occurred and the periods of plus temperatures, which activated the water. Shallow levels of groundwater during winter-spring periods occurred more often due to the lack of activities increasing the water flow into the drainage network. During the vegetation period of 2000 low precipitation sums (lower by 114 mm than the average for the reference multi-annual period), high average air temperature (higher by 1.5°C than the average for the reference multi-annual period) as well as evapotranspiration were noted. These components caused the decrease in water storage in a soil layer from 0-50 cm to the layer of water hard to reach by plants or even not available for plants as well as a significant decrease in groundwater level to the depth of 115-284 cm b.s.s. The highest level of groundwater was stated at the foot-slope. Along down the hill slopes, water depended on the location of a measurement site: the higher was a piezometer installed, the lower was the water level

The use of Water Quality Indices (WQI and SAR) for multipurpose assessment of water in dam reservoirs

The paper intends to show the potential of diverse benefits of two water quality indices used to assess 4 dammed lakes in lowland area in NE Poland: the Water Quality Index (WQI), developed by the Scottish Development Department, used in the assessment of water potential for human consumption, fisheries, industries and recreation, as well as the Sodium Adsorption Ratio (SAR), recommended by the Salinity Laboratory of the US Department of Agriculture, used in the water assessment for the irrigation purpose. Our study was based on the results of a water quality monitoring programme, in which the following water parameters have been analyzed: pH, dissolved oxygen, electrical conductivity, biological oxygen demand, chemical oxygen demand, NH4 +, NO3 -, Cl-, SO4 2-, Na+, Ca2+, Mg2+ and HCO3-. The water quality parameters differed among the studied reservoirs, and represented a medium (Wykrot) and poor class (Grodzisk Duży, Karwacz and Łoje) on a 5-degree WQI scale. The SAR was less diversified and water in the studied reservoirs showed class I. The results revealed that the water in all the reservoirs is suitable for irrigation with no hazard to the soil structure as well as for breeding of fish that tolerate lower water aeration. This water can be also used for recreational purposes, although direct contact with water is not recommended. The water quality indices (WQI and SAR) showed a great potential in the assessment of water for multi-purpose usage. The WQI and SAR are excellent tools for summarizing overall water quality conditions over space and time. When used together, they are also a method of providing relevant information for specific water use that can be more readable for planners and managers