bluuebunny/crossref_metadata_2025_split huggingface dataset:
Evaluation of the AIRS near‐real‐time channel selection for application to numerical weather prediction
Authors: Fourri'e Nadia , Thépaut Jean‐noël 
Published: July 2003

AbstractThe Atmospheric Infrared Sounder (AIRS) on board the National Aeronautics and Space Administration (NASA) Earth Observing System (EOS) Aqua satellite provides 2378 channels for each field of view of the instrument. As it is neither feasible nor efficient to assimilate all the channels in a numerical weather‐prediction system, a policy of channel selection has to be designed in this context. This paper attempts to assess the optimality of the selection of the AIRS radiance channels that are made available to the scientific community in near real time (hereafter called AIRS NRT) by the National Oceanic and Atmospheric Administration (NOAA) National Environmental Satellite Data and Information Service. This assessment is done by comparing this channel selection with a method preserving the information content of the instrument, the so‐called ‘global’ method. It turns out that although the selected channels are different and the information content as measured by the entropy reduction (ER) and the degrees of freedom for signal (DFS) is slightly smaller for the AIRS NRT channel set than for the ‘global’ set, both channel selections give similar results in terms of analysis error for temperature, humidity and ozone. The robustness of the results is then evaluated by varying the range of input parameters to the channel‐selection scheme, in particular the atmospheric training dataset on which the channel selection is based, and the background‐error covariance matrix. It is found that the performance of the ‘global’ channel selection is sensitive to the training dataset, while the AIRS NRT channel selection remains robust, even, to some extent, for the retrieval of key analysis‐error structures. Altogether, the ‘manually selected’ AIRS NRT channels provide a good compromise between robustness and quality. Copyright © 2003 Royal Meteorological Society.
Experimental study of five föhn events during the Mesoscale Alpine Programme: From synoptic scale to turbulence
Authors: Lothon Marie , Druilhet A. , Bénech B. , Campistron B. , Bernard S. , Saïd F. 
Published: July 2003

AbstractAircraft measurements made during the Mesoscale Alpine Programme are used to investigate the atmospheric turbulence inside the large Rhine Valley on the north side of the Alps during five föhn events induced by a southerly to south‐westerly flow. Prior to that goal, an analysis based on the observations of different instruments provides the mesoscale and large‐scale atmospheric conditions encountered during the aircraft flights. The temporal and spatial structure of the föhn event of 20 October 1999 is presented as an example. In this case, the three‐dimensional structure of the turbulence is investigated. An estimate of the different components of the turbulent kinetic energy budget is attempted. It shows that the source of the turbulence is mainly mechanical. In spite of the high inhomogeneity of the turbulence in space and between the cases, the study of five cases allows the description of some general features of the föhn events, such as the plume of turbulence extending downwards in the valley and the near homogeneity of the dissipative length‐scale. Copyright © 2003 Royal Meteorological Society.
The effects of changing resolution on mesocale modelling of line convection and slantwise circulations in FASTEX IOP16
Authors: Lean Humphrey W. , Clark Peter A. 
Published: July 2003

AbstractData are presented from modelling a rapidly developing cyclone, in intensive observation period 16 of the Fronts and Atlantic Storm Tracks Experiment, using the new non‐hydrostatic version of the Met Office Unified Model at a number of different horizontal and vertical resolutions. The model produces a good representation of the system, including multiple fronts with line convection, cloud heads and slantwise cross‐frontal circulations similar to those seen in the observations. Results from the model with various grid lengths, from 60 km nested down to 2 km with 45 vertical levels, show that more realistic detail is produced as the grid length is reduced but that the large‐scale structures remain consistent. By spectral analysis it is found that structures on scales shorter than approximately five grid lengths are attenuated. The line convection at the fronts is aliased onto the grid‐length scale except in the 2 km model where evidence of a three‐dimensional structure starts to appear. The 2 and 4 km models have also been run with enhanced vertical resolutions. It is concluded that whilst a 24 km 45‐level model is sufficient to represent the overall frontal structure, a model with resolution at least 2 km in the horizontal and 90 vertical levels is required to represent small‐scale multiple slantwise circulations similar to those observed in the dropsonde data. © Crown copyright 2003.
Atmosphere–sea‐ice low‐frequency variability with a simple model of the southern hemisphere
Authors: Garric G. , Venegas S. A. , Tansley C. E. , James I. N. 
Published: July 2003

AbstractA simple primitive‐equation general circulation model (SGCM) is used as a representation of an ‘aqua‐planet’ (with no orography) to model constant southern‐hemisphere‐winter conditions. The statistical significance of the decadal and quasi‐biennial variability is first assessed in a long‐time SGCM run by means of a frequency‐domain statistical decomposition. The modelled long‐wave atmospheric pattern is then associated with the observed southern‐hemisphere ‘annular mode’, as suggested by previous studies using the same SGCM.A simple linear relationship between the low‐level wind and the ice velocity is then introduced into the SGCM to investigate the feedbacks between the sea‐ice cover and the baroclinic waves. The zonal mean state reached by the sea‐ice cover in a long coupled run (a few hundred years) exhibits characteristics similar to the observations. Investigation of the low‐frequency variability in the coupled simulation leads to the following results: (1) statistically significant variability is observed on interdecadal, decadal, interannual and quasi‐biennial time‐scales; (2) interdecadal, decadal and quasi‐biennial signals are associated with the atmospheric annular mode that forces changes in the northward extent of the sea‐ice cover at all Southern Ocean longitudes; (3) the interannual signal (3–6 year period) exhibits spatio‐temporal patterns and propagation speed similar to the well‐known ‘Antarctic circumpolar wave’. Copyright © 2003 Royal Meteorological Society.
Zonal‐mean transport characteristics of ECMWF re‐analysis data
Authors: Bratseth Arne M. 
Published: July 2003

AbstractTransport characteristics for a dataset from a global data assimilation system (European Centre for Medium‐Range Weather Forecasts re‐analyses for 1993) are analysed by constructing an advection–diffusion operator with tracer‐transport properties as close as possible to the zonally and seasonally averaged tracer advection. This is achieved by computing a best‐fit flux–gradient relation for a large number of artificial tracers. The meridional circulation of the advection–diffusion operator (the transport velocity) is thermally direct almost everywhere. It is similar to the Transformed Eulerian Mean (TEM) residual circulation in most of the stratosphere, but is much weaker than this circulation in the extratropical troposphere. The diffusivity tensor has a complicated structure where transport barriers and ‘surf zones’ can be identified. The structure is strongly connected to the zonal wind, with distinct minima in the jet‐stream areas. The zonal acceleration due to effects other than the transport circulation is studied. It is shown that this acceleration has a tendency to be strong when the mixing is strong and vice versa. Copyright © 2003 Royal Meteorological Society.
Characteristics of mixed‐phase clouds. I: Lidar, radar and aircraft observations from CLARE'98
Authors: Hogan R. J. , Francis P. N. , Flentje H. , Illingworth A. J. , Quante M. , Pelon J. 
Published: July 2003

AbstractResults are presented from two case‐studies during the 1998 Cloud Lidar And Radar Experiment (CLARE'98) in which mixed‐phase clouds were observed by a multitude of ground‐based and airborne instruments. In both cases supercooled liquid water was present in the form of highly reflective layers in lidar imagery, while the radar echo was dominated by the contribution from the much larger ice particles. In the first case‐study, four individual liquid‐water layers were observed by an airborne nadir‐pointing polarimetric lidar at temperatures between −7°C and −15°C, embedded within a warm‐frontal ice cloud. Their phase was confirmed by the in situ measurements and by their very low depolarization of the lidar signal. The effective droplet radius ranged from 2 to 5 µm. Simultaneous temperature and vertical‐wind measurements by the aircraft demonstrated that they were generated by a gravity wave with a wavelength of around 15 km. Thin sector plates grew rapidly in the high‐supersaturation conditions and were responsible for the high values of differential reflectivity measured by the ground‐based radar in the vicinity of the layers. In the second case‐study a liquid‐water altocumulus layer was observed at −23°C, which was slowly glaciating. Profiles of liquid and ice extinction coefficient, water content and effective radius were derived from the remote measurements taken in both cases, using radar–lidar and dual‐wavelength radar techniques to size the ice particles; where in situ validation was available, agreement was good. Radiative‐transfer calculations were then performed on these profiles to ascertain the radiative effect of the supercooled water. It was found that, despite their low liquid‐water path (generally less than 10 – 20 g m−2), these clouds caused a significant increase in the reflection of solar radiation to space, even when cirrus was present, above which the long‐wave signal dominated. In the cases considered, their capacity to decrease the net absorbed radiation was at least twice as large as that of the ice. The layers were typically 100–200 m thick, suggesting that they are unlikely to be adequately represented by the resolutions of current forecast and climate models. These results suggest that a spaceborne lidar and radar would be ideally suited to characterizing the occurrence and climatological importance of mixed‐phase clouds on a global scale. © Royal Meteorological Society, 2003. P. N. Francis's contribution is Crown copyright.
Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania
Authors: Morton D. Holmes , Morton Caroline S. , Strauss Kevin A. , Robinson Donna L. , Puffenberger Erik G. , Hendrickson Christine , Kelley Richard I. 
Published: July 2003

AbstractThe Clinic for Special Children in Lancaster County, Pennsylvania, is a community‐supported, nonprofit pediatric medical practice for Amish and Mennonite children who have genetic disorders. Over a 14‐year period, 1988–2002, we have encountered 39 heritable disorders among the Amish and 23 among the Mennonites. We emphasize early recognition and long‐term medical care of children with genetic conditions. In the clinic laboratory we perform amino acid analyses by high‐performance liquid chromatography (HPLC), organic acid analyses by gas chromatography/mass spectrometry (GC/MS), and molecular diagnoses and carrier tests by polymerase chain reaction (PCR) amplification and sequencing or restriction digestion. Regional hospitals and midwives routinely send whole‐blood filter paper neonatal screens for tandem mass spectrometry and other modern analytical methods to detect 14 of the metabolic disorders found in these populations as part of the NeoGen Inc. Supplemental Newborn Screening Program (Pittsburgh, PA). Medical care based on disease pathophysiology reduces morbidity, mortality, and costs for the majority of disorders. Among our patients who are homozygous for the same mutation, differences in disease severity are not unusual. Clinical problems typically arise from the interaction of the underlying genetic disorder with common infections, malnutrition, injuries, and immune dysfunction that act through classical pathophysiological disease mechanisms to influence the natural history of disease. © 2003 Wiley‐Liss, Inc.
Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania
Authors: Puffenberger E.G. 
Published: July 2003

AbstractThe Old Order Mennonites of southeastern Pennsylvania are a religious isolate with origins in 16th‐century Switzerland. The Swiss Mennonites immigrated to Pennsylvania over a 50‐year period in the early 18th century. The history of this population in the United States provides insight into the increased incidence of several genetic diseases, most notably maple syrup urine disease (MSUD), Hirschsprung disease (HSCR), and congenital nephrotic syndrome. A comparison between the Old Order Mennonites and the Old Order Amish demonstrates the unique genetic heritage of each group despite a common religious and geographic history. Unexpectedly, several diseases in both groups demonstrate allelic and/or locus heterogeneity. The population genetics of the 1312T → A BCKDHA gene mutation, which causes classical MSUD, are presented in detail. The incidence of MSUD in the Old Order Mennonites is estimated to be 1/358 births, yielding a corrected carrier frequency of 7.96% and a mutation allele frequency of 4.15%. Analysis of the population demonstrates that repeated cycles of sampling effects, population bottlenecks, and subsequent genetic drift were important in shaping the current allele frequencies. A linkage disequilibrium analysis of 1312T → A mutation haplotypes is provided and discussed in the context of the known genealogical history of the population. Finally, data from microsatellite marker genotyping within the Old Order Mennonite population are provided that show a significant but modest decrease in genetic diversity and elevated levels of background linkage disequilibrium. © 2003 Wiley‐Liss, Inc.
Anabaptist genealogy database
Authors: Agarwala Richa , Biesecker Leslie G. , Schäffer Alejandro A. 
Published: July 2003

AbstractIn late 1996 we set out to build a computer‐searchable genealogy of the Old Order Amish of Lancaster County, Pennsylvania, for use by geneticists. The goals of the project included: 1) using the genealogy to expedite the mapping of genes mutated in three rare recessive disorders under study at the National Institutes of Health (NIH); 2) building a freely available software package, PedHunter, to answer genetically relevant queries on our database and other similar databases; and 3) providing genealogy assistance to researchers outside NIH. All of these scientific goals had to be accomplished while maintaining the confidentiality of the persons in the database and the confidentiality of preliminary research results. We expanded the project to include complementary data sources that contained many individuals who were Anabaptist, but not Amish, and many individuals who never lived in Lancaster County. For this reason, the project was renamed Anabaptist Genealogy Database (AGDB). All of the initial goals of the project have been accomplished, and we recently marked the 5‐year anniversary of answering the first of over 100 queries by researchers outside NIH. Thus, it is an opportune time to review the construction of AGDB, summarize its usage to date, and speculate on future projects it might stimulate and facilitate. Published 2003 Wiley‐Liss, Inc.
A study of linkage and association of body mass index in the old order Amish
Authors: Platte P. , Papanicolaou G.J. , Johnston J. , Klein C.M. , Doheny K.F. , Pugh E.W. , Roy‐Gagnon M.‐H. , Stunkard A.J. , Francomano C.A. , Wilson A.F. 
Published: July 2003

AbstractObesity is thought to have a genetic component with the estimates of heritability ranging from 0.25–0.40. As part of an ongoing study of obesity in the Old Order Amish, seven two‐ and three‐generation families (157 individuals) were assessed for 21 traits related to obesity, including body mass index (BMI) and BMI‐percentile (a standardized distribution of BMI adjusted for age and sex). Genotyping was performed using a panel of 384 short‐tandem repeat markers. In this sample, the estimates of heritability ranged from 0.16–0.31 for BMI and from 0.40–0.52 for BMI‐percentile. Model‐independent linkage analysis identified candidate regions on chromosomes 1, 5, 7, 8, and 11. Given that several markers on 7q were significant for both BMI and BMI‐percentile (P ≤ 0.001) and that the structural locus for leptin was located on 7q, this region was considered to be the primary candidate region. Subsequent typing of additional flanking markers on 7q corroborated the original findings. Tests of intrafamilial association for alleles at markers in this candidate region were significant at similar levels. Although there is some evidence for linkage and association in the region containing leptin, there appears to be stronger evidence for linkage (P ≤ 0.001) and association (P ≤ 0.00001) with BMI in a region 10–15 cM further downstream of leptin, flanked by markers D7S1804 and D7S3070 with peak values from D7S495–D7S1798. Evidence from linkage and association studies suggests that this region (D7S1804–D7S3070) may be responsible, at least in part, for variation in BMI and BMI‐percentile in the Old Order Amish. Published 2003 Wiley‐Liss, Inc.
The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases
Authors: Ridanpää Maaret , Jain Pawan , Mckusick Victor A. , Francomano Clair A. , Kaitila Ilkka 
Published: July 2003

AbstractCartilage‐hair hypoplasia (CHH), or McKusick type metaphyseal chondrodysplasia, was originally described in the Old Order Amish in the United States and subsequently found to be unusually frequent among Finns. The major mutation causing CHH in Finns is a 70A → G nucleotide substitution in the RMRP gene, which encodes the untranslated RNA that is a component of mitochondrial RNA‐processing endoribonuclease. Here we report that the same mutation is the most frequent one, perhaps the only one, in the Amish population in which CHH was first characterized. The fact that the mutation segregates with the same major haplotype in these two populations and others suggests that it is very ancient. Unlike some other ordinarily rare recessive disorders that are limited in their high frequency to a single Amish deme (subisolate), e.g., Ellis‐van Creveld syndrome, CHH occurs in high frequency in at least three distinct Amish demes, indicating, along with genealogic data, that there were multiple heterozygotes among the founders, as proposed by McKusick et al. [1965: Bull Johns Hopkins Hosp 116:231–272]. Published 2003 Wiley‐Liss, Inc.
Type I glutaric aciduria, part 1: Natural history of 77 patients
Authors: Strauss Kevin A. , Puffenberger Erik G. , Robinson Donna L. , Morton D. Holmes 
Published: July 2003

AbstractTime is that wherein there is opportunity, and opportunity is that wherein there is no great time. … Healing is a matter of time, but it is also a matter of opportunity.—Hippocrates, EpidemicsType I glutaric aciduria (GA1) results from mitochondrial matrix flavoprotein glutaryl‐CoA dehydrogenase deficiency and is a cause of acute striatal necrosis in infancy. We present detailed clinical, neuroradiologic, molecular, biochemical, and functional data on 77 patients with GA1 representative of a 14‐year clinical experience. Micrencephalic macrocephaly at birth is the earliest sign of GA1 and is associated with stretched bridging veins that can be a cause of subdural hematoma and acute retinal hemorrhage. Acute striatal necrosis during infancy is the principal cause of morbidity and mortality and leads to chronic oromotor, gastroesophageal, skeletal, and respiratory complications of dystonia. Injury to the putamen is heralded by abrupt‐onset behavioral arrest. Tissue degeneration is stroke‐like in pace, radiologic appearance, and irreversibilty. It is uniformly symmetric, regionally selective, confined to children under 18 months of age, and occurs almost always during an infectious illness. Our knowledge of disease mechanisms, though incomplete, is sufficient to allow a rational approach to management of encephalopathic crises. Screening of asymptomatic newborns with GA1 followed by thoughtful prospective care reduces the incidence of radiologically and clinically evident basal ganglia injury from approximately 90% to 35%. Uninjured children have good developmental outcomes and thrive within Amish and non‐Amish communities. © 2003 Wiley‐Liss, Inc.
Type I glutaric aciduria, part 2: A model of acute striatal necrosis
Authors: Strauss Kevin A. , Morton D. Holmes 
Published: July 2003

AbstractType I glutaric aciduria (GA1) is an inborn error of organic acid metabolism that is associated with acute neurological crises, typically precipitated by an infectious illness. The neurological crisis coincides with swelling, metabolic depression, and necrosis of basal ganglia gray matter, especially the putamina and can be visualized as focal, stroke‐like, signal hyperintensity on MRI. Here we focus on the stroke‐like nature of striatal necrosis and its similarity to brain injury that occurs in infants after hypoxia‐ischemia or systemic intoxication with 3‐nitropropionic acid (NPA). These conditions share several features including abrupt onset, preferential effect in the striatum and age‐specific susceptibility. The pathophysiology of the conditions is reviewed and a model proposed herein. We encourage investigators to test this model in an appropriate experimental system. © 2003 Wiley‐Liss, Inc.
Association between genetic variation of CACNA1H and childhood absence epilepsy
Authors: Chen Yucai , Lu Jianjun , Pan Hong , Zhang Yuehua , Wu Husheng , Xu Keming , Liu Xiaoyan , Jiang Yuwu , Bao Xinhua , Yao Zhijian , Ding Keyue , Lo Wilson H. Y. , Qiang Boqin , Chan Piu , Shen Yan , Wu Xiru 
Published: July 2003

AbstractDirect sequencing of exons 3 to 35 and the exon–intron boundaries of the CACNA1H gene was conducted in 118 childhood absence epilepsy patients of Han ethnicity recruited from North China. Sixty‐eight variations have been detected in the CACNA1H gene, and, among the variations identified, 12 were missense mutations and only found in 14 of the 118 patients in a heterozygous state, but not in any of 230 unrelated controls. The identified missense mutations occurred in the highly conserved residues of the T‐type calcium channel gene. Our results suggest that CACNA1H might be an important susceptibility gene involved in the pathogenesis of childhood absence epilepsy. Ann Neurol 2003