Psychiatric manifestations of ATP13A2 mutations

Background: Biallelic mutations in ATP13A2 were identified as the cause of Kufor-Rakeb disease, a pallido-pyramidal syndrome characterized by young-onset dystonia-parkinsonism with vertical supranuclear gaze palsy, spasticity, and cognitive decline. The phenotypic spectrum has broadened since, but predominantly psychiatric or behavioral manifestations have not been highlighted. Cases: Here we report the clinical, radiological, and genetic findings in 2 unrelated patients with ATP13A2 mutations. One patient had a prominent behavioral (autistic spectrum) presentation and the other a psychiatric (paranoid psychosis) presentation. Both had additional features, such as delayed milestones, ataxia, pyramidal signs, upgaze restriction, or impaired cognition to varying extent, but these were partly subtle or developed later in the disease course. Conclusion: Prominent behavioral or psychiatric features can be the first or most prominent manifestation of ATP13A2-related disease. They may be a diagnostic clue in patients with ataxia, spasticity, or parkinsonism and may require an interdisciplinary neurological and psychiatric treatment approach

Anaemia, iron status and vitamin A deficiency among adolescent refugees in Kenya and Nepal

AbstractObjectiveTo investigate the prevalence of anaemia (haemoglobin 8.3 μg ml−1) and vitamin A deficiency (serum retinol < 0.7 μmoll−1) in adolescent refugees.DesignCross-sectional surveys.SettingKakuma refugee camp in Kenya and seven refugee camps in Nepal.SubjectsAdolescent refugee residents in these camps.ResultsAnaemia was present in 46% (95% confidence interval (CI): 42–51) of adolescents in Kenya and in 24% (95% CI: 20–28) of adolescents in Nepal. The sensitivity of palmar pallor in detecting anaemia was 21%. In addition, 43% (95% CI: 36–50) and 53% (95% CI: 46–61) of adolescents in Kenya and Nepal, respectively, had iron deficiency. In both surveys, anaemia occurred more commonly among adolescents with iron deficiency. Vitamin A deficiency was found in 15% (95% CI: 10–20) of adolescents in Kenya and 30% (95% CI: 24–37) of adolescents in Nepal. Night blindness was not more common in adolescents with vitamin A deficiency than in those without vitamin A deficiency. In Kenya, one of the seven adolescents with Bitot's spots had vitamin A deficiency.ConclusionsAnaemia, iron deficiency and vitamin A deficiency are common among adolescents in refugee populations. Such adolescents need to increase intakes of these nutrients; however, the lack of routine access makes programmes targeting adolescents difficult. Adolescent refugees should be considered for assessment along with other at-risk groups in displaced populations

Evaluation of the effectiveness of stainless steel cooking pots in reducing iron-deficiency anaemia in food aid-dependent populations

AbstractObjectiveTo evaluate the effectiveness of stainless steel (Fe alloy) cooking pots in reducing Fe-deficiency anaemia in food aid-dependent populations.DesignRepeated cross-sectional surveys. Between December 2001 and January 2003, three surveys among children aged 6–59 months and their mothers were conducted in 110 households randomly selected from each camp. The primary outcomes were changes in Hb concentration and Fe status.SettingTwo long-term refugee camps in western Tanzania.SubjectsChildren (6–59 months) and their mothers were surveyed at 0, 6 and 12 months post-intervention. Stainless steel pots were distributed to all households in Nduta camp (intervention); households in Mtendeli camp (control) continued to cook with aluminium or clay pots.ResultsAmong children, there was no change in Hb concentration at 1 year; however, Fe status was lower in the intervention camp than the control camp (serum transferrin receptor (sTfR) concentration: 6·8v. 5·9 μg/ml;P< 0·001). There was no change in Hb concentration among non-pregnant mothers at 1 year. Subjects in the intervention camp had lower Fe status than those in the control camp (sTfR concentration: 5·8v. 4·7 μg/ml;P= 0·003).ConclusionsDistribution of stainless steel pots did not increase Hb concentration or improve Fe status in children or their mothers. The use of stainless steel prevents rusting but may not provide sufficient amounts of Fe and strong educational campaigns may be required to maximize use. The distribution of stainless steel pots in refugee contexts is not recommended as a strategy to control Fe deficiency

Acceptability and use of iron and iron-alloy cooking pots: implications for anaemia control programmes

Abstract Objective To evaluate the acceptability of iron and iron-alloy cooking pots prior to an intervention trial and to investigate factors affecting retention and use. Design Pre-trial research was conducted on five types of iron and iron-alloy pots using focus group discussions and a laboratory evaluation of Fe transfer during cooking was undertaken. Usage and retention during the subsequent intervention trial were investigated using focus group discussions and market monitoring. Setting Three refugee camps in western Tanzania. Subjects Refugee health workers were selected for pre-trial research. Mothers of children aged 6-59 months participated in the investigation of retention and use. Results Pre-trial research indicated that the stainless steel pot would be the only acceptable type for use in this population due to excessive rusting and/or the high weight of other types. Cooking three typical refugee dishes in stainless steel pots led to an increase in Fe content of 3·2 to 17·1 mg/100 g food (P < 0·001). During the trial, the acceptability of the stainless steel pots was lower than expected owing to difficulties with using, cleaning and their utility for other purposes. Households also continued to use their pre-existing pots, and stainless steel pots were sold to increase household income. Conclusions Pre-trial research led to the selection of a stainless steel pot that met basic acceptability criteria. The relatively low usage reported during the trial highlights the limitations of using high-value iron-alloy cooking pots as an intervention in populations where poverty and the availability of other pots may lead to sellin

A systematic screening to identifyde novomutations causing sporadic early-onset Parkinson's disease

Despite the many advances in our understanding of the genetic basis of Mendelian forms of Parkinson's disease (PD), a large number of early-onset cases still remain to be explained. Many of these cases, present with a form of disease that is identical to that underlined by genetic causes, but do not have mutations in any of the currently known disease-causing genes. Here, we hypothesized that de novo mutations may account for a proportion of these early-onset, sporadic cases. We performed exome sequencing in full parent-child trios where the proband presents with typical PD to unequivocally identify de novo mutations. This approach allows us to test all genes in the genome in an unbiased manner. We have identified and confirmed 20 coding de novo mutations in 21 trios. We have used publicly available population genetic data to compare variant frequencies and our independent in-house dataset of exome sequencing in PD (with over 1200 cases) to identify additional variants in the same genes. Of the genes identified to carry de novo mutations, PTEN, VAPB and ASNA1 are supported by various sources of data to be involved in PD. We show that these genes are reported to be within a protein-protein interaction network with PD genes and that they contain additional rare, case-specific, mutations in our independent cohort of PD cases. Our results support the involvement of these three genes in PD and suggest that testing for de novo mutations in sporadic disease may aid in the identification of novel disease-causing genes

Planck early results. XIII. Statistical properties of extragalactic radio sources in the Planck Early Release Compact Source Catalogue

The data reported in Planck?s Early Release Compact Source Catalogue (ERCSC) are exploited to measure the number counts (dN/dS) of extragalactic radio sources at 30, 44, 70, 100, 143 and 217 GHz. Due to the full-sky nature of the catalogue, this measurement extends to the rarest and brightest sources in the sky. At lower frequencies (30, 44, and 70 GHz) our counts are in very good agreement with estimates based on WMAP data, being somewhat deeper at 30 and 70 GHz, and somewhat shallower at 44 GHz. Planck?s source counts at 143 and 217 GHz join smoothly with the fainter ones provided by the SPT and ACT surveys over small fractions of the sky. An analysis of source spectra, exploiting Planck?s uniquely broad spectral coverage, finds clear evidence of a steepening of the mean spectral index above about 70 GHz. This implies that, at these frequencies, the contamination of the CMB power spectrum by radio sources below the detection limit is significantly lower than previously estimated.The Planck Collaboration thanks the referee, Ronald Ekers, for his insightful comments, which helped improve the paper. This research has made use of the SIMBAD database, operated at CDS, Strasbourg, France. The Planck Collaboration acknowledges the support of: ESA; CNES and CNRS/INSU-IN2P3-INP (France); ASI, CNR, and INAF (Italy); NASA and DoE (USA); STFC and UKSA (UK); CSIC, MICINN and JA (Spain); Tekes, AoF and CSC (Finland); DLR and MPG (Germany); CSA (Canada); DTU Space (Denmark); SER/SSO (Switzerland); RCN (Norway); SFI (Ireland); FCT/MCTES (Portugal); and DEISA (EU). A description of the Planck Collaboration and a list of its members can be found at http://www.rssd.esa.int/index.php?project=PLANCK&page=Planck_Collaboratio

Planck early results. XX. New light on anomalous microwave emission from spinning dust grains

Anomalous microwave emission (AME) has been observed by numerous experiments in the frequency range ~10?60 GHz. Using Planck maps and multi-frequency ancillary data, we have constructed spectra for two known AME regions: the Perseus and ? Ophiuchi molecular clouds. The spectra are well fitted by a combination of free-free radiation, cosmic microwave background, thermal dust, and electric dipole radiation from small spinning dust grains. The spinning dust spectra are the most precisely measured to date, and show the high frequency side clearly for the first time. The spectra have a peak in the range 20?40 GHz and are detected at high significances of 17.1? for Perseus and 8.4? for ? Ophiuchi. In Perseus, spinning dust in the dense molecular gas can account for most of the AME; the low density atomic gas appears to play a minor role. In ? Ophiuchi, the ~30 GHz peak is dominated by dense molecular gas, but there is an indication of an extended tail at frequencies 50?100 GHz, which can be accounted for by irradiated low density atomic gas. The dust parameters are consistent with those derived from other measurements. We have also searched the Planck map at 28.5 GHz for candidate AME regions, by subtracting a simple model of the synchrotron, free-free, and thermal dust. We present spectra for two of the candidates; S140 and S235 are bright Hii regions that show evidence for AME, and are well fitted by spinning dust models.We thank the referee, Doug Finkbeiner, for useful comments. We thank Justin Jonas for providing the 2326 MHz HartRAO map. We acknowledge the use of the MPIfR Survey Sampler website at http://www.mpifr-bonn.mpg.de/survey.html. We acknowledge the use of the Legacy Archive for Microwave Background Data Analysis (LAMBDA); support for LAMBDA is provided by the NASA Office of Space Science. This research has made use of the NASA/IPAC Extragalactic Database (NED) which is operated by the Jet Propulsion Laboratory, California Institute of Technology, under contract with the National Aeronautics and Space Administration. This research makes use of the SIMBAD database, operated at CDS, Strasbourg, France. The Planck Collaboration acknowledges the support of: ESA; CNES and CNRS/INSU-IN2P3-INP (France); ASI, CNR, and INAF (Italy); NASA and DoE (USA); STFC and UKSA (UK); CSIC, MICINN and JA (Spain); Tekes, AoF and CSC (Finland); DLR and MPG (Germany); CSA (Canada); DTU Space (Denmark); SER/SSO (Switzerland); RCN (Norway); SFI (Ireland); FCT/MCTES (Portugal); and DEISA (EU). A detailed description of the Planck Collaboration and a list of its members can be found at http://www.rssd.esa.int/index.php?project=PLANCK&page=Planck_Collaboration

Planck early results. XVIII. The power spectrum of cosmic infrared background anisotropies

Using Planck maps of six regions of low Galactic dust emission with a total area of about 140 deg2, we determine the angular power spectra of cosmic infrared background (CIB) anisotropies from multipole = 200 to = 2000 at 217, 353, 545 and 857 GHz. We use 21-cm observations of Hi as a tracer of thermal dust emission to reduce the already low level of Galactic dust emission and use the 143 GHz Planck maps in these fields to clean out cosmic microwave background anisotropies. Both of these cleaning processes are necessary to avoid significant contamination of the CIB signal. We measure correlated CIB structure across frequencies. As expected, the correlation decreases with increasing frequency separation, because the contribution of high-redshift galaxies to CIB anisotropies increases with wavelengths. We find no significant difference between the frequency spectrum of the CIB anisotropies and the CIB mean, with ?I/I = 15% from 217 to 857 GHz. In terms of clustering properties, the Planck data alone rule out the linear scale- and redshift-independent bias model. Non-linear corrections are significant. Consequently, we develop an alternative model that couples a dusty galaxy, parametric evolution model with a simple halo-model approach. It provides an excellent fit to the measured anisotropy angular power spectra and suggests that a different halo occupation distribution is required at each frequency, which is consistent with our expectation that each frequency is dominated by contributions from different redshifts. In our best-fit model, half of the anisotropy power at = 2000 comes from redshifts z 2 at 353 and 217 GHz, respectively.This paper has made use of modelling tools that were made available by Matthieu Béthermin and Aurélie Pénin. The Planck Collaboration acknowledges the support of: ESA; CNES and CNRS/INSU-IN2P3-INP (France); ASI, CNR, and INAF (Italy); NASA and DoE (USA); STFC and UKSA (UK); CSIC, MICINN and JA (Spain); Tekes, AoF and CSC (Finland); DLR and MPG (Germany); CSA (Canada); DTU Space (Denmark); SER/SSO (Switzerland); RCN (Norway); SFI (Ireland); FCT/MCTES (Portugal); and DEISA (EU). A description of the Planck Collaboration and a list of its members, indicating which technical or scientific activities they have been involved in, can be found at http://www.rssd.esa.int/Planck

Planck early results. XVII. Origin of the submillimetre excess dust emission in the Magellanic Clouds

The integrated spectral energy distributions (SED) of the Large Magellanic Cloud (LMC) and Small Magellanic Cloud (SMC) appear significantly flatter than expected from dust models based on their far-infrared and radio emission. The still unexplained origin of this millimetre excess is investigated here using the Planck data. The integrated SED of the two galaxies before subtraction of the foreground (Milky Way) and background (CMB fluctuations) emission are in good agreement with previous determinations, confirming the presence of the millimetre excess. In the context of this preliminary analysis we do not propose a full multi-component fitting of the data, but instead subtract contributions unrelated to the galaxies and to dust emission. The background CMB contribution is subtracted using an internal linear combination (ILC) method performed locally around the galaxies. The foreground emission from the Milky Way is subtracted as a Galactic Hi template, and the dust emissivity is derived in a region surrounding the two galaxies and dominated by Milky Way emission. After subtraction, the remaining emission of both galaxies correlates closely with the atomic and molecular gas emission of the LMC and SMC. The millimetre excess in the LMC can be explained by CMB fluctuations, but a significant excess is still present in the SMC SED. The Planck and IRAS?IRIS data at 100 ?m are combined to produce thermal dust temperature and optical depth maps of the two galaxies. The LMC temperature map shows the presence of a warm inner arm already found with the Spitzer data, but which also shows the existence of a previously unidentified cold outer arm. Several cold regions are found along this arm, some of which are associated with known molecular clouds. The dust optical depth maps are used to constrain the thermal dust emissivity power-law index (?). The average spectral index is found to be consistent with ? = 1.5 and ? = 1.2 below 500?m for the LMC and SMC respectively, significantly flatter than the values observed in the Milky Way. Also, there is evidence in the SMC of a further flattening of the SED in the sub-mm, unlike for the LMC where the SED remains consistent with ? = 1.5. The spatial distribution of the millimetre dustexcess in the SMC follows the gas and thermal dust distribution. Different models are explored in order to fit the dust emission in the SMC. It is concluded that the millimetre excess is unlikely to be caused by very cold dust emission and that it could be due to a combination of spinning dust emission and thermal dust emission by more amorphous dust grains than those present in our Galaxy.A description of the Planck Collaboration and a list of its members can be found at http://www.rssd.esa.int/index.php?project=PLANCK&page=Planck_Collaboratio