Search

The SATB2-associated syndrome ( SAS) was proposed recently, after the SATB2 gene was initially discovered to be associated with isolated cleft palate. This syndrome is characterized by intellectual disability with delayed speech development, facial dysmorphism, cleft or high-arched palate, and dentition problems. Here, we describe two novel SATB2 sequence variants in two unrelated patients presenting with Rett-like phenotypes. We performed trio-based whole-exome sequencing in a 17-month-old girl presenting with severe retardation and Rett-like phenotypes, which revealed a de novo missense variant in SATB2 (p. Glu396Gln). Moreover, targeted sequencing of the SATB2 gene was performed in a 2-year-old girl with severe psychomotor retardation, facial hypotonia, and cleft palate who also exhibited some features of Rett syndrome. A nonsense variant in SATB2 was identified in this patient (p.Arg459*). This study expanded the clinical and genetic spectrum of SAS. SATB2 variants should be considered in cases with psychomotor retardation alone or in any cases with Rett-like phenotypes, regardless of the typical features of SAS such as cleft palate. [ABSTRACT FROM AUTHOR]

A 266–2133 MHz phase shifter is proposed for LPDDR4X interface, utilising an all‐digital delay‐locked loop (DLL) and a triangular‐modulated phase interpolator (PI) to improve the jitter and linearity. The DLL consists of two kinds of DLLs: a global DLL to assist fast locking; and a local DLL which uses an adaptive‐window phase detector and a folded delay line to reduce jitter and improve linearity. The PI uses a triangular‐modulated clock waveform to achieve good linearity over a wide frequency range. The prototype chip is implemented in a 65 nm CMOS process. The measured jitter of the DLL is 3.08 psrms/19.93 pspp at 2133 MHz. The measured differential non‐linearity of the phase shifter is <0.91 LSB at 2133 MHz, and the power efficiency is about 2.7 mW/GHz. [ABSTRACT FROM AUTHOR]

Background and Purpose: The purpose of this study was to evaluate the mutation status of PANK2 among Korean patients with pantothenate kinase-associated neurodegeneration (PKAN) and to document the outcome of pallidal deep brain stimulation (DBS). Methods: Direct sequencing and deletion/duplication analysis of PANK2 were conducted in 12 patients (11 unrelated) with PKAN, diagnosed on the basis of extrapyramidal dysfunction and the 'eye-of-the-tiger sign' on brain magnetic resonance imaging (MRI). Pallidal DBS was conducted in four patients, and the outcomes were measured using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS). Results: A PANK2 mutation was identified in both alleles in all patients. The most prevalent mutation was c.1319G>C (p.R440P) in 8/22 mutated alleles (36%). An intragenic deletion ranging from exons 2 to 4 was found in one allele (1/22, 4.5%) using deletion/duplication analysis. The outcome of pallidal DBS was favorable in two patients with atypical PKAN and moderate severity of dystonia. However, two patients with typical PKAN and relatively severe symptoms showed variable responses. Conclusions: The c.1319G>C (p.R440P) mutation appears to be a founder genotype among Korean patients with PKAN. Furthermore, this study provides additional data for the recent international effort to evaluate the efficacy of pallidal DBS in the treatment of patients with PKAN. [ABSTRACT FROM AUTHOR]

A-train Cloud-Aerosol Lidar with Orthogonal Polarization (CALIOP) and Microwave Limb Sounder (MLS) observations are used to investigate the development of polar stratospheric clouds (PSCs) and the gas-phase nitric acid distribution in the early 2008 Antarctic winter. Observational evidence of gravity-wave activity is provided by Atmospheric Infrared Sounder (AIRS) radiances and infrared spectroscopic detection of nitric acid trihydrate (NAT) in PSCs is obtained from the Michelson Interferometer for Passive Atmospheric Sounding (MIPAS). Goddard Earth Observing System Data Assimilation System (GEOS-5 DAS) analyses are used to derive Lagrangian trajectories and to determine temperature-time histories of air parcels. We use CALIOP backscatter and depolarization measurements to classify PSCs and the MLS measurements to determine the corresponding gas-phase HNO3 as a function of temperature. For liquid PSCs the uptake of HNO3 follows the theoretical equilibrium curve for supercooled ternary solutions (STS), but at temperatures about 1K lower as determined from GEOS-5. In the presence of solid phase PSCs, above the ice frost-point, the HNO3 depletion occurs over a wider range of temperatures (+2 to -7 K) distributed about the NAT equilibrium curve. Rapid gas-phase HNO3 depletion is first seen by MLS from from 23-25 May 2008, consisting of a decrease in the volume mixing ratio from 14 ppbv (parts per billion by volume) to 7 ppbv on the 46-32 hPa (hectopascal) pressure levels and accompanied by a 2-3 ppbv increase by renitrification at the 68 hPa pressure level. The observed region of depleted HNO3 is substantially smaller than the region bounded by the NAT existence temperature threshold. Temperature-time histories of air parcels demonstrate that the depletion is more clearly correlated with prior exposure to temperatures a few kelvin above the frost-point. From the combined data we infer the presence of large-size NAT particles with effective radii >5-7 µm and low NAT number densities <1 x 10-3 cm-3. This denitrification event is observed close to the pole in the Antarctic vortex before synoptic temperatures first fall below the ice frost point and before the widespread occurrence of large-scale NAT PSCs. An episode of mountain wave activity detected by AIRS on 28 May 2008 led to wave-ice formation in the rapid cooling phases over the Antarctic Peninsula and Ellsworth Mountains, seeding an outbreak of NAT PSCs that were detected by CALIOP and MIPAS. The NAT clouds formed at altitudes of 18-26 km in a polar freezing belt and appear to be composed of relatively small particles with estimated effective radii of around 1 µm and high NAT number densities >0.2 cm-3. This NAT outbreak is similar to an event previously reported from MIPAS observations in mid-June 2003. [ABSTRACT FROM AUTHOR]

A-train Cloud-Aerosol Lidar with Orthogonal Polarization (CALIOP) and Microwave Limb Sounder (MLS) observations are used to investigate the development of polar stratospheric clouds (PSCs) and the gas phase nitric acid distribution in the early 2008 Antarctic winter. Observational evidence of gravity-wave activity is provided by Atmospheric Infrared Sounder (AIRS) radiances and infrared spectroscopic detection of nitric acid trihydrate (NAT) in PSCs is obtained from the Michelson Interferometer for Passive Atmospheric Sounding (MIPAS). Goddard Earth Observing System Data Assimilation System (GEOS-5 DAS) analyses are used to derive Lagrangian trajectories and to determine temperature-time histories of air parcels. We use CALIOP backscatter and depolarization measurements to classify PSCs and the MLS measurements to determine the corresponding gas phase HNO3 as a function of temperature. For liquid PSCs the uptake of HNO3 follows the theoretical equilibrium curve for supercooled ternary solutions (STS), but at temperatures about 1 K lower as determined from GEOS-5. In the presence of solid phase PSCs, above the ice frost-point, the HNO3 depletion occurs over a wider range of temperatures (+2 to -7 K) distributed about the NAT equilibrium curve. Rapid gas phase HNO3 depletion is first seen by MLS from from 23-25 May 2008, consisting of a decrease in the volume mixing ratio (parts per billion by volume) from 14 ppbv to 7 ppbv on the 46--32 hPa (hectopascal) pressure levels and accompanied by a 2--3 ppbv increase by renitrification at the 68 hPa pressure level. Temperature-time histories of air parcels demonstrate that the depleted HNO3 region is more clearly correlated with prior low temperature exposure of a few kelvin above the frost-point than with either the region bounded by the NAT existence temperature threshold or the region of minimum temperatures. From the combined data we infer the presence of large-size NAT particles with effective radii > 5--7 µm and low NAT number densities < 1 x 10-3 cm-3. This denitrification event is observed close to the pole in the Antarctic vortex before synoptic temperatures first fall below the ice frost point and before the widespread occurrence of large-scale NAT PSCs at altitudes 18--26 km in a polar freezing belt. The NAT outbreak is similar to an event previously reported from MIPAS observations in mid-June 2003 and is again linked to NAT formation via ice-seeding following an episode of mountain wave activity detected by AIRS. Subsequent wave-ice formation in the rapid cooling phases over the Antarctic Peninsula and Ellsworth Mountains is detected here by CALIOP and MIPAS. The NAT clouds appear to be composed of relatively small particles with estimated effective radii of around 1 µm and high NAT number densities >0.2 cm-3. [ABSTRACT FROM AUTHOR]

Temperature and water vapor variations due to clouds in the tropical tropopause layer (TTL) are investigated using co-located MLS, CALIPSO, and CloudSat data. Convective cooling occurs only up to the cloud tops, with warming above these heights in the TTL. Water vapor and ozone anomalies above the cloud tops are consistent with the warming being due to downward motion. Thicker clouds are associated with larger anomalies. Environmental water vapor below cloud tops can be either higher or lower than when clouds are absent, depending on the cloud top height. The critical factor determining the sign of this change appears to be the relative humidity. In general cloud-forming processes hydrate the environment below 16 kin, where the air after mixing between cloud and the environmental air does not reach saturation, but clouds dehydrate above 16km, as the larger temperature drop and the high initial relative humidity cause supersaturation to occur. Negative water vapor anomalies above cloud tops compared to clear skies suggest another dehydration mechanism operating above the detected cloud layers. [ABSTRACT FROM AUTHOR]

A research algorithm is developed for noise evaluation and feature detection of the CALIOP (Cloud-Aerosol Lidar with Orthogonal Polarization) Level 1 (L1) backscatter data with an emphasis on cloud/aerosol features in the upper troposphere and lower stratosphere (UT/LS). CALIOP measurement noise of the version v2.01 and v2.02 L1 backscatter data aggregated to (5 km) horizontal resolution is analyzed with two approaches in this study. One is to compare the observed and modeled molecular scatter profiles by scaling the modeled profile (with a fitted scaling factor α) to the observed clear-sky backscatter profiles. This scaling α value is sensitive to errors in the calibrated backscatter and the atmospheric model used. Most of the nighttime 532-nm a values are close to unity, as expected, but an abrupt drop occurred in October 2008 in the daytime 532-nm α, which is likely indicative of a problem in the v2.02 daytime calibrated data. The 1064-nm night α is generally close to 2 while its day a is ∼3. The other approach to evaluate the lidar measurement noise is to use the calibrated lidar backscatter data at altitudes above 19 km. With this method, the 532-nm and 1064-nm measurement noises are analyzed and characterized individually for each profile in terms of the mean (µ) and standard deviation (σ), showing larger σ values in general over landmasses or bright surfaces during day and in radiation-hard regions during night. A significant increasing trend is evident in the nighttime 1064-nm σ, which is likely responsible for the increasing difference between the feature occurrence frequencies (532-nm vs. 1064-nm) derived from this study. For feature detection with the research algorithm, we apply a σ--based method to the aggregated L1 data. The derived morphology of feature occurrence frequency is in general agreement with that obtained from the Level 2 (L2) 05 km CLAY+05 km ALAY products at 5 km horizontal resolution. Finally, a normalized probability density function (PDF) method is employed to evaluate the day-night backscatter data in which noise levels are largely different. CALIOP observations reveal a higher probability of daytime cloud/aerosol occurrence than nighttime in the tropical UT/LS region for 532-nm total backscatters >0.01 km-1 sr-1. [ABSTRACT FROM AUTHOR]

To study cloud/aerosol features in the upper troposphere and lower stratosphere (UT/LS) with the NASA's A-Train sensors, a research algorithm is developed for a re-gridded CALIOP (Cloud-Aerosol Lidar with Orthogonal Polarization) Level 1 (L1) backscatter dataset. This paper provides a detailed analysis of the measurement noise of this re-gridded dataset in order to compare the lidar measurements with other collocated measurements (e.g., CloudSat, Microwave Limb Sounder). The regridded dataset has a manageable data volume for multi-year analysis. It has a fixed (5 km) horizontal resolution, and the measurement error is derived empirically from the background-corrected backscatter profile on a profile-by-profile basis. The 532-nm and 1064-nm measurement noises, determined from the data at altitudes above 19 km, are analyzed and characterized in terms of the mean (μ), standard deviation (σ), and normalized probability density function (PDF). These noises show a larger variance over landmasses and bright surfaces during day, and in regions with enhanced flux of energetic particles during night, where the instrument's ability for feature detection is slightly degraded. An increasing trend in the nighttime 1064-nm σ appears to be significant, which likely causes the increasing differences in cloud occurrence frequency between the 532-nm and 1064-nm channels. Most of the CALIOP backscatter noise distributions exhibit a Gaussian-like behavior but the nighttime 532-nm perpendicular measurements show multi-Gaussian characteristics. We apply σ - based thresholds to detect cloud/aerosol features in the UT/LS from the subset L1 data. The observed morphology is similar to that from the Level 2 (L2) 05km CLAY+05km ALAY product, but the occurrence frequency obtained in this study is slightly lower than the L2 product due to differences in spatial averaging and detection threshold. In the case where the measurement noises of two data sets are different, the normalized PDF has proven useful for quantifying the day-night difference of the CALIOP backscatters, showing higher daytime cloud occurrence frequency in the tropical UT/LS. Other cloud/aerosol properties, such as depolarization ratio and color ratio, can be also evaluated with the PDF method. [ABSTRACT FROM AUTHOR]

Mechanically robust power devices of high energy efficiency are one of the keys towards overcoming the challenges from the daunting climate change and the depletion of fossil fuels on the earth. The importance of mechanical engineering has been long recognized in physical type power devices, but less so in those based on electrochemical processes, such as batteries, fuel cells, and electrochemical capacitors (ECs). Particularly, ECs, which are also known as supercapacitors, bridge the crucial performance disparity between fuel cells or batteries with high energy capacities and the traditional capacitors capable of outputting pulsed high power. New materials and advanced configurations are the two essential elements for ECs to cope with mechanical engineering issues at both macro and micro levels. This review describes the design and characteristics of ECs and the emerging asymmetrical construction utilizing nanostructured composites that enable energy storage through both ion adsorptions (interfacial capacitance) and fast and reversible redox reactions (pseudo-capacitance). It is specially intended to rouse interest towards newly reported high-energy and high-power aqueous ECs with nanocomposites of transition metal oxides, nitrides or conducting polymers, and carbon nanotubes or activated carbons. Current collector materials and structures are also examined as important mechanical engineering elements in ECs. The chemical, material, and mechanical issues reviewed here call for more joined efforts among scientists, engineers, and industries to further advance ECs as a promising new energy technology. [ABSTRACT FROM AUTHOR]

Temperature and water vapor variations due to clouds in the TTL have been investigated using co-located MLS, CALISPO, and CloudSat data. Convective cooling occurs only up to cloud top heights, but there is warming above these heights in the TTL. Water vapor and ozone anomalies above cloud top heights support that the warming anomalies occur due to downward motion. Thicker clouds cause a greater magnitude of the temperature anomalies. Water vapor of the environment below cloud tops can either increase or decrease, depending on the cloud top height. The critical factor, which divides these different water vapor variations below cloud tops, is the relative humidity. Clouds hydrate the environment below 16 km, where the air after mixing between cloud and the environmental air does not reach saturation, but clouds dehydrate above 16 km, due to the supersaturation because of the larger temperature drop and the high initial relative humidity. Water vapor above cloud tops has negative anomalies compared to clear skies and suggests another dehydration mechanism. [ABSTRACT FROM AUTHOR]

A decreased level of the hippocampal choline signal was found in patients with depression in previous proton magnetic resonance spectroscopy (1H-MRS) studies. The objective of this study is to compare choline levels before and after the forced swimming test (FST), an animal model of depression typically used for assessing antidepressant activity. 1H-MRS spectra were obtained from both the left and right hippocampus. After the FST, rats showed a significant decrease of the choline/creatine (Cho/Cr, p=0.037) and choline/N-acetylaspartate (Cho/NAA, p=0.048) ratios in the left hippocampus, but not in the right hippocampus. This finding was analogous to results from patients with depression. It suggests that decreased Cho/Cr and Cho/NAA ratios in the left hippocampal regions might be considered to be biomarkers in rats with depression. [ABSTRACT FROM AUTHOR]

The objective of the present study was to identify brain centers, whose activity changes are related to erotic visual stimuli in healthy, heterosexual, middle aged males. Ten heterosexual, right-handed males with normal sexual function were entered into the present study (mean age 52 years, range 46–55). All potential subjects were screened over 1 h interview, and were encouraged to fill out questionnaires including the Brief Male Sexual Function Inventory. All subjects with a history of sexual arousal disorder or erectile dysfunction were excluded. We performed functional brain magnetic resonance imaging (fMRI) in male volunteers when an alternatively combined erotic and nonerotic film was played for 14 min and 9 s. The major areas of activation associated with sexual arousal to visual stimuli were occipitotemporal area, anterior cingulate gyrus, insula, orbitofrontal cortex, caudate nucleus. However, hypothalamus and thalamus were not activated. We suggest that the nonactivation of hypothalamus and thalamus in middle aged males may be responsible for the lesser physiological arousal in response to the erotic visual stimuli.International Journal of Impotence Research (2006) 18, 452–457. doi:10.1038/sj.ijir.3901449; published online 9 February 2006 [ABSTRACT FROM AUTHOR]

The authors analyzed radiative efficiency of InGaN laser diodes (LDs) emitting at 405 nm. Based on semiconductor rate equations, the radiative efficiency is unambiguously determined by the analysis of electroluminescence characteristics. The radiative efficiency exceeds 70% even far below threshold of ∼3 mA at a high temperature of 80 °C. This highly radiative characteristic is attributed to reduced contribution of nonradiative recombination in LDs with low-dislocation-density active material. It is also found that the radiative efficiency is almost independent of threshold current, indicating that nonradiative recombination is not a major factor which determines lasing threshold in 405 nm emitting InGaN LDs having low dislocation density. [ABSTRACT FROM AUTHOR]

We report stable temperature characteristics of threshold current and output power in InGaN blue laser diodes emitting around 450 nm. The threshold current is changed by <3 mA in operation temperature range from 20 to 80 °C, and even negative characteristic temperature is observed in a certain temperature range. This peculiar temperature characteristic is attributed to originate from unique carrier transport properties of InGaN quantum wells with high In composition, which is deduced from the simulation of carrier density and optical gain. In addition, slope efficiency is also maintained well and wall plug efficiency is even improved as temperature increases. [ABSTRACT FROM AUTHOR]

A duobinary transmitter (TX) is presented in a single-ended topology using voltage-mode drivers to support dynamic random access memory (DRAM) interface. A four-phase parallel duobinary precoder is included. It relaxes one of the critical timing requirements of the duobinary TX by reducing the feedback step of the precoder and performing its feedback at once. Fabricated in a 55 nm CMOS process, the TX occupies 0.053 mm² active area. The TX achieves 10 Gbps operation at 6.8 pJ/b of energy efficiency and operates up to 12.8 Gbps at 7.6 pJ/b. [ABSTRACT FROM AUTHOR]

A duobinary transmitter (TX) is presented in a single‐ended topology using voltage‐mode drivers to support dynamic random access memory (DRAM) interface. A four‐phase parallel duobinary precoder is included. It relaxes one of the critical timing requirements of the duobinary TX by reducing the feedback step of the precoder and performing its feedback at once. Fabricated in a 55 nm CMOS process, the TX occupies 0.053 mm2 active area. The TX achieves 10 Gbps operation at 6.8 pJ/b of energy efficiency and operates up to 12.8 Gbps at 7.6 pJ/b. [ABSTRACT FROM AUTHOR]

A 266-2133 MHz phase shifter is proposed for LPDDR4X interface, utilising an all-digital delay-locked loop (DLL) and a triangular-modulated phase interpolator (PI) to improve the jitter and linearity. TheDLL consists of two kinds ofDLLs: a global DLL to assist fast locking; and a local DLL which uses an adaptive-window phase detector and a folded delay line to reduce jitter and improve linearity. The PI uses a triangular-modulated clock waveform to achieve good linearity over a wide frequency range. The prototype chip is implemented in a 65 nm CMOS process. The measured jitter of the DLL is 3.08 psrms/19.93 pspp at 2133 MHz. The measured differential non-linearity of the phase shifter is <0.91 LSB at 2133 MHz, and the power efficiency is about 2.7 mW/GHz. [ABSTRACT FROM AUTHOR]