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The proteinase mucosa-associated lymphoid tissue lymphoma translocation protein 1 (MALT1), which forms part of the caspase recruitment domain-containing protein 11-B-cell lymphoma 10-MALT1 signalosome complex, plays a direct role in nuclear factor kappa B activation. Here, we describe the case of a female infant with severe immune dysregulation leading to recurrent systemic infections, failure to thrive and severe crises of ichthyosiform erythroderma with high levels of serum IgE. Hence, initial symptoms indicated Netherton syndrome or Omenn syndrome. Surprisingly, sequence analyses of SPINK5 and RAG1/RAG2, respectively, excluded these diseases. During the hospital stay the patient's health deteriorated, despite intensive care therapy, and she died. In order to delineate the diagnosis, whole-exome sequencing was performed. Two compound heterozygous mutations in MALT1 were found and verified by Sanger sequencing (exon 2 c.245T>C, exon 2 c.310dup), which led to a MALT1 deficiency at the protein level. Based on these results, an immunological analysis was performed, as was immunofluorescence staining of key skin proteins, to confirm a diagnosis of MALT1 deficiency. This case report provides a closer description of the clinical and histological skin phenotype of MALT1 deficiency, and we conclude that MALT1 deficiency must be considered a possible differential diagnosis of Netherton and Omenn syndromes. What's already known about this topic? Mucosa-associated lymphoid tissue lymphoma translocation protein 1 (MALT1) deficiency is a combined immunodeficiency. MALT1 is part of the caspase recruitment domain-containing protein 11-B-cell lymphoma 10-MALT1 signalosome complex, which is essential for nuclear factor kappa B activation. Current publications describe a phenotype of recurrent systemic infections; only in a few cases has an inflammatory involvement of the integument been described. What does this study add? A closer description of the cutaneous phenotype of MALT1 deficiency in a patient with two novel MALT1 mutations. Immune mapping of follicular epidermis shows lympho-epithelial Kazal-type-related inhibitor is reduced in MALT1 deficiency and absent on interfollicular staining. Clinically, MALT1 deficiency mimics Netherton syndrome and Omenn syndrome, and should be considered a differential diagnosis., (© 2019 British Association of Dermatologists.)

Background: Autosomal recessive congenital ichthyosis (ARCI) is a genetically heterogeneous group of rare Mendelian skin disorders characterized by cornification and differentiation defects of keratinocytes. Mutations in nine genes including PNPLA1 are known to cause nonsyndromic forms of ARCI. To date, only 10 distinct pathogenic mutations in PNPLA1 have been reported., Objectives: To identify new causative PNPLA1 mutations., Methods: We screened genetically unresolved cases, including our ARCI collection, comprising more than 700 families. Screening for mutations was performed either by direct Sanger sequencing or in combination with a multigene panel, followed by sequence and mutation analysis., Results: Here we report on 16 novel mutations present in patients from 17 families. While all previously reported mutations and most of our novel mutations are located within the core patatin domain, we report five novel PNPLA1 mutations that are downstream of this domain. Thus, as recently described for PNPLA2, we hypothesize that a region larger than the core domain is required for full enzymatic activity of PNPLA1 in human skin barrier formation., Conclusions: We estimate the frequency of PNPLA1 mutations among patients with ARCI to be around 3%. Most of our patients were born as collodion babies and showed a relatively mild ichthyosis phenotype. In four unrelated patients we observed a cyclic scaling course, which seems to be a potential phenotypic variation in a small percentage of patients with PNPLA1 mutations. The variability of the clinical manifestations and the lack of typical clinical features are specific for patients with PNPLA1 mutations, and emphasize the importance of DNA sequencing for differential diagnosis of ARCIs., (© 2017 British Association of Dermatologists.)

This publisher's note renumbers the reference list in Appl. Opt.56, 5274 (2017)APOPAI0003-693510.1364/AO.56.005274.

The Cassini spacecraft orbiting Saturn carries the composite infrared spectrometer (CIRS) designed to study thermal emission from Saturn and its rings and moons. CIRS, a Fourier transform spectrometer, is an indispensable part of the payload providing unique measurements and important synergies with the other instruments. It takes full advantage of Cassini's 13-year-long mission and surpasses the capabilities of previous spectrometers on Voyager 1 and 2. The instrument, consisting of two interferometers sharing a telescope and a scan mechanism, covers over a factor of 100 in wavelength in the mid and far infrared. It is used to study temperature, composition, structure, and dynamics of the atmospheres of Jupiter, Saturn, and Titan, the rings of Saturn, and surfaces of the icy moons. CIRS has returned a large volume of scientific results, the culmination of over 30 years of instrument development, operation, data calibration, and analysis. As Cassini and CIRS reach the end of their mission in 2017, we expect that archived spectra will be used by scientists for many years to come.

Distal arthrogryposis (DA) is a feature in genetically and clinically heterogeneous groups of disorders. Mostly myopathic and neurogenic defects have been described, but many patients remain without genetic diagnosis. We are elaborating on the clinical presentation of neonatal cases with DA who carry novel mutations in the nonselective sodium leak channel (NALCN). Two patients reported herein were remarkable for central hypertonicity in addition to DA. By trio-whole exome sequencing, two undescribed de novo mutations in NALCN were revealed. Both mutations (p.F317C and p.V595F) are located on pore-forming segments of NALCN. Dominant NALCN mutations in the pore-forming segments have been identified in similar patients, whereas recessive mutations outside the pore-forming segments result in different phenotypes. Our findings with central hypertonia broaden the phenotypic spectrum of de novo mutations in the pore-forming segments of NALCN. Recent findings of successful acetazolamide treatment in patients with channelopathies might point to potential therapies based on the ion channel similarities and the location of the mutation., (Georg Thieme Verlag KG Stuttgart · New York.)

Temperatures obtained from early Cassini infrared observations of Titan show a stratopause at an altitude of 310 kilometers (and 186 kelvin at 15 degrees S). Stratospheric temperatures are coldest in the winter northern hemisphere, with zonal winds reaching 160 meters per second. The concentrations of several stratospheric organic compounds are enhanced at mid- and high northern latitudes, and the strong zonal winds may inhibit mixing between these latitudes and the rest of Titan. Above the south pole, temperatures in the stratosphere are 4 to 5 kelvin cooler than at the equator. The stratospheric mole fractions of methane and carbon monoxide are (1.6 +/- 0.5) x 10(-2) and (4.5 +/- 1.5) x 10(-5), respectively.

Stratospheric temperatures on Saturn imply a strong decay of the equatorial winds with altitude. If the decrease in winds reported from recent Hubble Space Telescope images is not a temporal change, then the features tracked must have been at least 130 kilometers higher than in earlier studies. Saturn's south polar stratosphere is warmer than predicted from simple radiative models. The C/H ratio on Saturn is seven times solar, twice Jupiter's. Saturn's ring temperatures have radial variations down to the smallest scale resolved (100 kilometers). Diurnal surface temperature variations on Phoebe suggest a more porous regolith than on the jovian satellites.

The Composite Infrared Spectrometer observed Jupiter in the thermal infrared during the swing-by of the Cassini spacecraft. Results include the detection of two new stratospheric species, the methyl radical and diacetylene, gaseous species present in the north and south auroral infrared hot spots; determination of the variations with latitude of acetylene and ethane, the latter a tracer of atmospheric motion; observations of unexpected spatial distributions of carbon dioxide and hydrogen cyanide, both considered to be products of comet Shoemaker-Levy 9 impacts; characterization of the morphology of the auroral infrared hot spot acetylene emission; and a new evaluation of the energetics of the northern auroral infrared hot spot.

The Earth's equatorial stratosphere shows oscillations in which the east-west winds reverse direction and the temperatures change cyclically with a period of about two years. This phenomenon, called the quasi-biennial oscillation, also affects the dynamics of the mid- and high-latitude stratosphere and weather in the lower atmosphere. Ground-based observations have suggested that similar temperature oscillations (with a 4-5-yr cycle) occur on Jupiter, but these data suffer from poor vertical resolution and Jupiter's stratospheric wind velocities have not yet been determined. Here we report maps of temperatures and winds with high spatial resolution, obtained from spacecraft measurements of infrared spectra of Jupiter's stratosphere. We find an intense, high-altitude equatorial jet with a speed of approximately 140 m s(-1), whose spatial structure resembles that of a quasi-quadrennial oscillation. Wave activity in the stratosphere also appears analogous to that occurring on Earth. A strong interaction between Jupiter and its plasma environment produces hot spots in its upper atmosphere and stratosphere near its poles, and the temperature maps define the penetration of the hot spots into the stratosphere.

Somatosensory evoked potentials (SEPs) after radial nerve stimulation are studied less frequently than those after median nerve stimulation. Therefore, little is known about their component structure and scalp topography. We investigated radial nerve SEPs after electrical stimulation at the left wrist. For comparison, the median nerve was also stimulated at the wrist. SEPs were recorded with 15 scalp electrodes (bandpass 0.5-200 Hz) in 27 healthy subjects. The waveform of the radial nerve SEP at a contralateral parietal lead was comparable to that of the median nerve SEP, consisting of P14, N20, P30, and N60. In spite of comparable stimulus intensities, SEP amplitudes were smaller after radial than after median nerve stimulation. Significant latency differences were found only for N20 (earlier for median nerve) and P30 (earlier for radial nerve). The duration of the primary complex N20-P30 thus was significantly shorter for the radial nerve. Whereas N20 and P30 were present with either earlobe or frontal reference, N60 had a prerolandic maximum and was best recorded with a bipolar transverse derivation. In addition, another middle-latency negativity (N110) was found near the secondary somatosensory cortex, which had previously been described only for radial nerve stimulation. In standard SEP derivations, the N110 is riding on the ascending limb of the vertex negativity. It could best be recorded in low temporal leads versus a midline reference. The scalp topographies of P30, N60, and N110 were similar for radial and median nerve stimulation.

The aim of this study was to compare cerebral evoked potentials following selective activation of A beta and A delta fibers. In 15 healthy subjects, A beta fibers were activated by electrical stimulation of the left radial nerve at the wrist. A delta fibers were activated by short painful radiant heat pulses, applied to the dorsum of the left hand by a CO2 laser. Evoked potentials were recorded with 15-27 scalp electrodes, evenly distributed over both hemispheres (bandpass 0.5-200 Hz). The laser-evoked potentials exhibited a component with a mean peak latency of 176 msec (N170). Its scalp topography showed a parieto-temporal maximum contralateral to the stimulus side. In contrast, the subsequent vertex negativity (N240), which appeared about 60 msec later, had a symmetrical scalp distribution. Electrically evoked potentials showed a component at 110 msec (N110), that had a topography similar to the laser-evoked N170. The topographies of the N170 and N110 suggest that they may both be generated in the secondary somatosensory cortex. There was no component in the electrically evoked potential that had a comparable interpeak latency to the following vertex potential: for N60 it was longer, for N110 it was shorter. On the other hand, in the laser-evoked potentials no component could be identified the topography of which corresponded to the primary cortical component N20 following electrical stimulation.

The infrared interferometer spectrometer on Voyager 2 obtained thermal emission spectra of Neptune with a spectral resolution of 4.3 cm(-1). Measurements of reflected solar radiation were also obtained with a broadband radiometer sensitive in the visible and near infrared. Analysis of the strong C(2)H(2) emission feature at 729 cm(-1) suggests an acetylene mole fraction in the range between 9 x 10(-8) and 9 x 10(-7). Vertical temperature profiles were derived between 30 and 1000 millibars at 70 degrees and 42 degrees S and 30 degrees N. Temperature maps of the planet between 80 degrees S and 30 degrees N were obtained for two atmospheric layers, one in the lower stratosphere between 30 and 120 millibars and the other in the troposphere between 300 and 1000 millibars. Zonal mean temperatures obtained from these maps and from latitude scans indicate a relatively warm pole and equator with cooler mid-latitudes. This is qualitatively similar to the behavior found on Uranus even though the obliquities and internal heat fluxes of the two planets are markedly different. Comparison of winds derived from images with the vertical wind shear calculated from the temperature field indicates a general decay of wind speed with height, a phenomenon also observed on the other three giant planets. Strong, wavelike longitudinal thermal structure is found, some of which appears to be associated with the Great Dark Spot. An intense, localizd cold region is seen in the lower stratosphere, which does not appear to be correlated with any visible feature. A preliminary estimate of the effective temperature of the planet yields a value of 59.3 +/- 1.0 kelvins. Measurements of Triton provide an estimate of the daytime surface temperature of 38(+3)(-4) kelvins.

Infrared spectra obtainedfrom Voyager 2 have provided additional data on the Jovian system, complementing those obtained from Voyager 1. The abundance ratio of ethane to acetylene in Jupiter's atmosphere appears to be about three times larger in the polar regions than at lower latitudes. A decidedly hemispherical asymmetry exists, with somewhat higher ratios prevailing in northern latitudes. An overall increase in the abundance ratio by a factor of about 1.7 appears to have occurred between the Voyager 1 and 2 encounters. Global brightness temperature maps of Jupiter at 226 and 602 cm(-1) exhibit a large amount of local- and planetary-scale structure, as well as temporal variability. Although heterogeneous cloud structure and ammonia concentration in the lower troposphere may contribute to the appearance of the 226-cm(-1) map, the detail in the 602-cm(-1) maps probably represents the actual horizontal thermal structure near the tropopause and suggests that dynamical heating and cooling processes are important. Low-latitude surface temperatures on the Galilean satellites rangefrom approximately 80 K on the dark sides to 155 K at the subsolar point on Callisto. Below a thin insulating layer, the thermal inertia of Callisto is somewhat greater than that of Earth's moon. Upper limits on the infrared optical depth of the Jovian ring rangingfrom approximately 3 x 10(-4) at 250 cm(-1) to 3 x 10(-3) at 600 cm(-1) have been found.

The infrared interferometer spectrometer (IRIS) on Voyager 2 recorded thermal emission spectra of Uranus between 200 and 400 cm(-1) and of Miranda and Ariel between 200 and 500 cm(-1) with a spectral resolution of 4.3 cm(-1). Reflected solar radiation was also measured with a single-channel radiometer sensitive in the visible and near infrared. By combining IRIS spectra with radio science results, a mole fraction for atmospheric helium of 0.15 +/- 0.05 (mass fraction, 0.26 +/- 0.08) is found. Vertical temperature profiles between 60 and 900 millibars were derived from average polar and equatorial spectra. Temperatures averaged over a layer between 400 to 900 millibars show nearly identical values at the poles and near the equator but are 1 or 2 degrees lower at mid-latitudes in both hemispheres. The cooler zone in the southern hemisphere appears darker in reflected sunlight than the adjacent areas. An upper limit for the effective temperature of Uranus is 59.4 kelvins. Temperatures of Miranda and Ariel at the subsolar point are 86 +/- 1 and 84 +/- 1 kelvins, respectively, implying Bond albedos of 0.24 +/- 0.06 and 0.31 +/- 0.06, respectively. Estimates of phase integrals suggest that these satellites have unusual surface microstructure.

The infrared spectroscopy and radiometry investigation has obtained spectra of Jupiter and its satellites between approximately 180 and 2500 cm(-1) with a spectral resolution of 4.3 cm(-1). The Jupiter spectra show clear evidence of H(2), CH(4) C(2)H(2), C(2)H(6), CH(3)D, NH(3), PH(3), H(2)O, and GeH(4). A helium concentration of 0.11 +/- 0.03 by volume is obtained. Meridional temperature cross sections show considerable structure. At high latitudes, the stratosphere is warmer in the north than in the south. The upper troposphere and lower stratosphere are locally cold over the Great Red Spot. Amalthea is warmer than expected. Considerable thermal structure is observed on Io, including a relatively hot region in the vicinity of a volcanic feature.

A postdispersion system for astronomical observations with Fourier transform spectrometers in the thermal infrared has been developed. Postdispersion improves the sensitivity of radiation noise limited observations by reducing the spectral range incident on the detector. The instrument is described and various uses are discussed.

During the passage of Voyager 2 through the Saturn system, infrared spectral and radiometric data were obtained for Saturn, Titan, Enceladus, Tethys, Iapetus, and the rings. Combined Voyager 1 and Voyager 2 observations of temperatures in the upper troposphere of Saturn indicate a seasonal asymmetry between the northern and southern hemispheres, with superposed small-scale meridional gradients. Comparison of high spatial resolution data from the two hemispheres poleward of 60 degrees latitude suggests an approximate symmetry in the small-scale structure, consistent with the extension of a symmetric system of zonal jets into the polar regions. Longitudinal variations of 1 to 2 K are observed. Disk- averaged infrared spectra of Titan show little change over the 9-month interval between Voyager encounters. By combining Voyager 2 temperature measurements with ground-based geometric albedo determinations, phase integrals of 0.91 +/- 0.13 and 0.89 +/- 0.09 were derived for Tethys and Enceladus, respectively. The subsolar point temperature of dark material on Iapetus must exceed 110 K. Temperatures (and infrared optical depths) for the A and C rings and for the Cassini division are 69 +/- 1 K (0.40 +/- 0.05), 85 +/- 1 K (0.10 +/- 0.03), and 85 +/- 2 K (0.07 +/- 0.04), respectively.

A cryogenic Fourier transform spectrometer has been built to measure thermal emission of the earth's limb from a balloon-borne platform. Liquid nitrogen cooling of the spectrometer and liquid helium cooling of the detectors has provided sufficient sensitivity to detect, at 5-15 microm, fifteen molecular species relevant to stratospheric ozone chemistry. The spectral resolution achieved, 0.022 cm(-1), is the best yet attained for emission mode data at these wavelengths. The philosophy behind the design of the optical and electronic systems is presented, followed by an analysis of the performance achieved during balloon flight.

An atlas of high resolution infrared emission spectra identifies a number of gaseous atmospheric features significant to stratospheric chemistry in the 770-900- and 1100-1360-cm(-1) regions at six zenith angles from 86.7 to 95.1 degrees . A balloon-borne Michelson interferometer was flown to obtain ~0.03-cm(-1) resolution spectra. Two 10-cm-1 extracts are presented here.

An onion-peeling iterative, least-squares relaxation method to retrieve mixing ratio profiles from limb thermal emission spectra is presented. The method has been tested on synthetic data, containing various amounts of added random noise for O(3), HNO(3), and N(2)O. The retrieval method is used to obtain O(3) and HNO(3) mixing ratio profiles from high-resolution thermal emission spectra. Results of the retrievals compare favorably with those obtained by others.

During the passage of Voyager 1 through the Saturn system, the infrared instrument acquired spectral and radiometric data on Saturn, the rings, and Titan and other satellites. Infrared spectra of Saturn indicate the presence of H(2), CH(4), NH(3), PH(3), C(2)H(2), C(2)H(6), and possibly C(3)H(4) and C(3)H(8). A hydrogen mole fraction of 0.94 is inferred with an uncertainty of a few percent, implying a depletion of helium in the atmosphere of Saturn relative to that of Jupiter. The atmospheric thermal structure of Saturn shows hemisphere asymmetries that are consistent with a response to the seasonally varying insolation. Extensive small-scale latitudinal structure is also observed. On Titan, positive identifications of infrared spectral features are made for CH(4), C(2)H(2), C(2)H(4), C(2)H(6), and HCN; tentative identifications are made for C(3)H(4) and C(3)H(8). The infrared continuum opacity on Titan appears to be quite small between 500 and 600 cm(-1), implying that the solid surface is a major contributor to the observed emission over this spectral range; between 500 and 200 cm(-1) theopacity increases with decreasing wave number, attaining an optical thickness in excess of 2 at 200 cm(-1). Temperatures near the 1-millibar level are independent of longitude and local time but show a decrease of approximately 20 K between the equator and north pole, which suggests a seasonally dependent cyclostrophic zonal flow in the stratosphere of approximately 100 meters per second. Measurements of the C ring of Saturn yield a temperature of 85 +/- 1 K and an infrared optical depth of 0.09 +/- 0.01. Radiometer observations of sunlight transmitted through the ring system indicate an optical depth of 10(-1.3 +/-0.3) for the Cassini division. A phase integral of 1.02 +/- 0.06 is inferred for Rhea, which agrees with values for other icy bodies in the solar system. Rhea eclipse observations indicate the presence of surface materials with both high and low thermal inertias, the former most likely a blocky component and the latter a frost.

The IR limb emission of the lower stratosphere has been measured using a balloon-borne liquid nitrogencooled Michelson interferometer with liquid helium-cooled Si:Ga detectors. Portions of the thermal emission spectrum have been recorded between 650 and 2000 cm(-1) with an unapodized spectral resolution of 0.03 cm(-1). This is the highest spectral resolution limb emission thus far obtained. A preliminary description is given of these data along with a discussion of the significant features. Species identified to date include CO(2), O(3), CFCl(3), CF(2)Cl(2), H(2)O, CH(4), HNO(3), N(2)O, NO(2), and ClONO(2). A tentative identification is made for NO, representing the first direct spectroscopic detection of NO in emission.

Spectral features observed with the Mariner 9 interferometer spectrometer are identified as those of H(2)O ice. The measured spectra are compared with theoretical calculations for the transfer of radiation through clouds of ice particles with variations in size distribution and integrated cloud mass. Comparisons with an observed spectrum from the Tharsis Ridge region indicate H(2)O ice clouds composed of particles with a mean radius of 2.0 micrometers and an integrated cloud mass of 5 x 10(-5) grain per square centimeter.

The Mariner 9 infrared spectroscopy experiment has provided goodquality spectra of many areas of Mars, predominantly in the southern hemisphere. Large portions of the thermal emission spectra are significantly affected by dust with a silicon oxide content approximately corresponding to that of an intermediate igneous rock, thus implying that Mars has undergone substantial geochemical differentiation. Derived temperature profiles indicate a warm daytime upper atmosphere with a strong warming over the south polar cap. Atmospheric water vapor is clearly observed over the south polar area and less strongly over other regions.