REM sleep behaviour disorder (RBD) is a parasomnia characterized by the loss of normal skeletal muscle atonia during REM sleep with prominent motor activity accompanying dreaming. The terminology ...relating to RBD, and mechanisms underlying REM sleep without atonia and RBD based on data in cat and rat are presented. Neuroimaging data from the few published human cases with RBD associated with structural lesions in the brainstem are presented, in which the dorsal midbrain and pons are implicated. Pharmacological manipulations which alter RBD frequency and severity are reviewed, and the data from human neuropathological studies are presented. An anatomic framework and new schema for the pathophysiology of RBD are proposed based on recent data in rat regarding the putative flip-flop switch for REM sleep control. The structure in man analogous to the subcoeruleus region in cat and sublaterodorsal nucleus in rat is proposed as the nucleus (and its associated efferent and afferent pathways) crucial to RBD pathophysiology. The association of RBD with neurological disease (‘secondary RBD’) is presented, with emphasis on RBD associated with neurodegenerative disease, particularly the synucleinopathies. The hypothesized pathophysiology of RBD is presented in relation to the Braak staging system for Parkinson's disease, in which the topography and temporal sequence of synuclein pathology in the brain could explain the evolution of parkinsonism and/or dementia well after the onset of RBD. These data suggest that many patients with ‘idiopathic’ RBD are actually exhibiting an early clinical manifestation of an evolving neurodegenerative disorder. Such patients may be appropriate for future drug therapies that affect synuclein pathophysiology, in which the development of parkinsonism and/or dementia could be delayed or prevented. We suggest that additional clinicopathological studies be performed in patients with dementia or parkinsonism, with and without RBD, as well as in patients with idiopathic RBD, to further elucidate the pathophysiology and also characterize the clinical and pathophysiological relevance of RBD in neurodegenerative disease. Furthermore, longitudinal studies in patients with idiopathic RBD are warranted to characterize the natural history of such patients and prepare for future therapeutic trials.
Background
Stillbirth is a global health problem. The World Health Organization (WHO) application of the International Classification of Diseases for perinatal mortality (ICD‐PM) aims to improve data ...on stillbirth to enable prevention.
Objectives
To identify globally reported causes of stillbirth, classification systems, and alignment with the ICD‐PM.
Search strategy
We searched CINAHL, EMBASE, Medline, Global Health, and Pubmed from 2009 to 2016.
Selection criteria
Reports of stillbirth causes in unselective cohorts.
Data collection and analysis
Pooled estimates of causes were derived for country representative reports. Systems and causes were assessed for alignment with the ICD‐PM. Data are presented by income setting (low, middle, and high income countries; LIC, MIC, HIC).
Main results
Eighty‐five reports from 50 countries (489 089 stillbirths) were included. The most frequent categories were Unexplained, Antepartum haemorrhage, and Other (all settings); Infection and Hypoxic peripartum (LIC), and Placental (MIC, HIC). Overall report quality was low. Only one classification system fully aligned with ICD‐PM. All stillbirth causes mapped to ICD‐PM. In a subset from HIC, mapping obscured major causes.
Conclusions
There is a paucity of quality information on causes of stillbirth globally. Improving investigation of stillbirths and standardisation of audit and classification is urgently needed and should be achievable in all well‐resourced settings. Implementation of the WHO Perinatal Mortality Audit and Review guide is needed, particularly across high burden settings.
Funding
HR, SH, SHL, and AW were supported by an NHMRC‐CRE grant (APP1116640). VF was funded by an NHMRC‐CDF (APP1123611).
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Urgent need to improve data on causes of stillbirths across all settings to meet global targets.
Plain Language Summary
Background and methods
Nearly three million babies are stillborn every year. These deaths have deep and long‐lasting effects on parents, healthcare providers, and the society. One of the major challenges to preventing stillbirths is the lack of information about why they happen. In this study, we collected reports on the causes of stillbirth from high‐, middle‐, and low‐income countries to: (1) Understand the causes of stillbirth, and (2) Understand how to improve reporting of stillbirths.
Findings
We found 85 reports from 50 different countries. The information available from the reports was inconsistent and often of poor quality, so it was hard to get a clear picture about what are the causes of stillbirth across the world. Many different definitions of stillbirth were used. There was also wide variation in what investigations of the mother and baby were undertaken to identify the cause of stillbirth. Stillbirths in all income settings (low‐, middle‐, and high‐income countries) were most frequently reported as Unexplained, Other, and Haemorrhage (bleeding). Unexplained and Other are not helpful in understanding why a baby was stillborn. In low‐income countries, stillbirths were often attributed to Infection and Complications during labour and birth. In middle‐ and high‐income countries, stillbirths were often reported as Placental complications.
Limitations
We may have missed some reports as searches were carried out in English only. The available reports were of poor quality.
Implications
Many countries, particularly those where the majority of stillbirths occur, do not report any information about these deaths. Where there are reports, the quality is often poor. It is important to improve the investigation and reporting of stillbirth using a standardised system so that policy makers and healthcare workers can develop effective stillbirth prevention programs. All stillbirths should be investigated and reported in line with the World Health Organization standards.
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Urgent need to improve data on causes of stillbirths across all settings to meet global targets.
Water availability limits plant growth and production in almost all terrestrial ecosystems. However, biomes differ substantially in sensitivity of aboveground net primary production (ANPP) to ...between-year variation in precipitation. Average rain-use efficiency (RUE; ANPP/precipitation) also varies between biomes, supposedly because of differences in vegetation structure and/or biogeochemical constraints. Here we show that RUE decreases across biomes as mean annual precipitation increases. However, during the driest years at each site, there is convergence to a common maximum RUE (RUEmax) that is typical of arid ecosystems. RUEmax was also identified by experimentally altering the degree of limitation by water and other resources. Thus, in years when water is most limiting, deserts, grasslands and forests all exhibit the same rate of biomass production per unit rainfall, despite differences in physiognomy and site-level RUE. Global climate models predict increased between-year variability in precipitation, more frequent extreme drought events, and changes in temperature. Forecasts of future ecosystem behaviour should take into account this convergent feature of terrestrial biomes.
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Using x-ray diffraction at the Linac Coherent Light Source x-ray free-electron laser, we have determined simultaneously and self-consistently the phase transitions and equation of state (EOS) of the ...lightest transition metal, scandium, under shock compression. On compression scandium undergoes a structural phase transition between 32 and 35 GPa to the same bcc structure seen at high temperatures at ambient pressures, and then a further transition at 46 GPa to the incommensurate host-guest polymorph found above 21 GPa in static compression at room temperature. Shock melting of the host-guest phase is observed between 53 and 72 GPa with the disappearance of Bragg scattering and the growth of a broad asymmetric diffraction peak from the high-density liquid.
Abstract
We present two hydrogen-rich superluminous supernovae (SLSNe): SN2103hx and PS15br. These objects, together with SN2008es, are the only SLSNe showing a distinct, broad H α feature during the ...photospheric phase; also, they show no sign of strong interaction between fast moving ejecta and circumstellar shells in their early spectra. Despite the fact that the peak luminosity of PS15br is fainter than that of the other two objects, the spectrophotometric evolution is similar to SN2103hx and different from any other supernova in a similar luminosity space. We group all of them as SLSNe II and hence they are distinct from the known class of SLSN IIn. Both transients show a strong, multicomponent H α emission after 200 d past maximum, which we interpret as an indication of the interaction of the ejecta with an asymmetric, clumpy circumstellar material. The spectra and photometric evolution of the two objects are similar to Type II supernovae, although they have much higher luminosity and evolve on slower time-scales. This is qualitatively similar to how SLSNe I compare with normal type Ic, in that the former are brighter and evolve more slowly. We apply a magnetar and an interaction semi-analytical code to fit the light curves of our two objects and SN2008es. The overall observational data set would tend to favour the magnetar, or central engine, model as the source of the peak luminosity, although the clear signature of late-time interaction indicates that interaction can play a role in the luminosity evolution of SLSNe II at some phases.
Mild behavioral impairment (MBI) is a construct that describes the emergence at ≥50 years of age of sustained and impactful neuropsychiatric symptoms (NPS), as a precursor to cognitive decline and ...dementia. MBI describes NPS of any severity, which are not captured by traditional psychiatric nosology, persist for at least 6 months, and occur in advance of or in concert with mild cognitive impairment. While the detection and description of MBI has been operationalized in the International Society to Advance Alzheimer's Research and Treatment - Alzheimer's Association (ISTAART-AA) research diagnostic criteria, there is no instrument that accurately reflects MBI as described.
To develop an instrument based on ISTAART-AA MBI criteria.
Eighteen subject matter experts participated in development using a modified Delphi process. An iterative process ensured items reflected the five MBI domains of 1) decreased motivation; 2) emotional dysregulation; 3) impulse dyscontrol; 4) social inappropriateness; and 5) abnormal perception or thought content. Instrument language was developed a priori to pertain to non-demented functionally independent older adults.
We present the Mild Behavioral Impairment Checklist (MBI-C), a 34-item instrument, which can easily be completed by a patient, close informant, or clinician.
The MBI-C provides the first measure specifically developed to assess the MBI construct as explicitly described in the criteria. Its utility lies in MBI case detection, and monitoring the emergence of MBI symptoms and domains over time. Studies are required to determine the prognostic value of MBI for dementia development, and for predicting different dementia subtypes.
We present the first major data release of the largest single key-project in area carried out in open time with the Herschel
Space Observatory. The Herschel Astrophysical Terahertz Large Area Survey ...(H-ATLAS) is a survey of 600 deg2 in five photometric bands – 100, 160, 250, 350 and 500 μm – with the Photoconductor Array Camera and Spectrometer and Spectral and Photometric Imaging Receiver (SPIRE) cameras. In this paper and the companion Paper II, we present the survey of three fields on the celestial equator, covering a total area of 161.6 deg2 and previously observed in the Galaxy and Mass Assembly (GAMA) spectroscopic survey. This paper describes the Herschel images and catalogues of the sources detected on the SPIRE 250 μm images. The 1σ noise for source detection, including both confusion and instrumental noise, is 7.4, 9.4 and 10.2 mJy at 250, 350 and 500 μm. Our catalogue includes 120 230 sources in total, with 113 995, 46 209 and 11 011 sources detected at >4σ at 250, 350 and 500 μm. The catalogue contains detections at >3σ at 100 and 160 μm for 4650 and 5685 sources, and the typical noise at these wavelengths is 44 and 49 mJy. We include estimates of the completeness of the survey and of the effects of flux bias and also describe a novel method for determining the true source counts. The H-ATLAS source counts are very similar to the source counts from the deeper HerMES survey at 250 and 350 μm, with a small difference at 500 μm. Appendix A provides a quick start in using the released data sets, including instructions and cautions on how to use them.
We present the first direct and unbiased measurement of the evolution of the dust mass function of galaxies over the past 5 billion years of cosmic history using data from the Science Demonstration ...Phase of the Herschel-Astrophysical Terahertz Large Area Survey (Herschel-ATLAS). The sample consists of galaxies selected at 250
m which have reliable counterparts from the Sloan Digital Sky Survey (SDSS) at z < 0.5, and contains 1867 sources. Dust masses are calculated using both a single-temperature grey-body model for the spectral energy distribution and also a model with multiple temperature components. The dust temperature for either model shows no trend with redshift. Splitting the sample into bins of redshift reveals a strong evolution in the dust properties of the most massive galaxies. At z= 0.4-0.5, massive galaxies had dust masses about five times larger than in the local Universe. At the same time, the dust-to-stellar mass ratio was about three to four times larger, and the optical depth derived from fitting the UV-sub-mm data with an energy balance model was also higher. This increase in the dust content of massive galaxies at high redshift is difficult to explain using standard dust evolution models and requires a rapid gas consumption time-scale together with either a more top-heavy initial mass function (IMF), efficient mantle growth, less dust destruction or combinations of all three. This evolution in dust mass is likely to be associated with a change in overall interstellar medium mass, and points to an enhanced supply of fuel for star formation at earlier cosmic epochs.
To determine if synucleinopathy pathology is related to REM sleep behavior disorder (RBD) plus dementia or parkinsonism.
The clinical and neuropathologic findings were analyzed on all autopsied cases ...evaluated at Mayo Clinic Rochester from January 1990 to April 2002 who were diagnosed with RBD and a neurodegenerative disorder. Ubiquitin and/or alpha-synuclein immunocytochemistry was used in all cases. The clinical and neuropathologic diagnoses were based on published criteria.
Fifteen cases were identified (14 men). All had clear histories of dream enactment behavior, and 10 had RBD confirmed by polysomnography. RBD preceded dementia or parkinsonism in 10 (66.7%) patients by a median of 10 (range 2 to 29) years. The clinical diagnoses included dementia with Lewy bodies (DLB) (n = 6); multiple-system atrophy (MSA) (n = 2); combined DLB, AD, and vascular dementia (n = 1); dementia (n = 1); dementia with parkinsonism (n = 1); PD (n = 1); PD with dementia (n = 1); dementia/parkinsonism/motor neuron disease (n = 1); and AD/Binswanger's disease (n = 1). The neuropathologic diagnoses were Lewy body disease (LBD) in 12 (neocortical in 11 and limbic in 1) and MSA in 3. Three also had argyrophilic grain pathology. In the LBD cases, concomitant AD pathology was present in six (one also with Binswanger's pathology, and one also with multiple subcortical infarcts).
In the setting of degenerative dementia or parkinsonism, RBD often reflects an underlying synucleinopathy.
Summary
Background
Pachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy, often accompanied by ...oral leucokeratosis, cysts and follicular keratosis. It is caused by mutations in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16 or KRT17.
Objectives
To identify mutations in 84 new families with a clinical diagnosis of PC, recruited by the International Pachyonychia Congenita Research Registry during the last few years.
Methods
Genomic DNA isolated from saliva or peripheral blood leucocytes was amplified using primers specific for the PC‐associated keratin genes and polymerase chain reaction products were directly sequenced.
Results
Mutations were identified in 84 families in the PC‐associated keratin genes, comprising 46 distinct keratin mutations. Fourteen were previously unreported mutations, bringing the total number of different keratin mutations associated with PC to 105.
Conclusions
By identifying mutations in KRT6A, KRT6B, KRT6C, KRT16 or KRT17, this study has confirmed, at the molecular level, the clinical diagnosis of PC in these families.
What's already known about this topic?
Pachyonychia congenita (PC) is caused by autosomal dominant mutations in KRT6A, KRT6B, KRT6C, KRT16 or KRT17.
Plantar pain is the main symptom.
Palmoplantar keratoderma and nail dystrophy are the predominant characteristics, often accompanied by oral leucokeratosis, cysts and follicular keratosis.
What does this study add?
This study identifies PC‐associated keratin mutations in 84 new families with PC recruited by the International Pachyonychia Congenita Research Registry.
Fourteen of the 46 distinct keratin mutations were previously unreported.
This study expands the large well‐phenotyped and genotyped case series of patients with PC, which is an invaluable resource for the development of mutation‐specific and/or gene‐specific therapies and for future clinical trials.
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