bluuebunny/crossref_metadata_2025_split huggingface dataset:
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype)
Authors: Barone R. , Sturiale L. , Fiumara A. , Uziel G. , Garozzo D. , Jaeken J. 
Published: December 2006

SummaryCDG Ia (phosphomannomutase deficiency) has a wide clinical spectrum with the most severe affected patients having multisystemic disease in addition to severe nervous system involvement. We report a patient with CDG Ia and an intermediate phenotype due to mild neurological impairment and borderline cognitive abilities despite the occurrence of typical extraneurological symptoms. These included liver involvement, coagulopathy and failure to thrive with enteropathy. Genotype analyses showed that he was compound heterozygous for T237R/C241S mutations. This observation underlines that the CDG Ia clinical spectrum may include intraindividual variability that might reflect different degrees of glycosylation abnormalities among distinct body compartments. CDG Ia should be considered in cases of unexplained liver involvement and/or enteropathy in patients with mild developmental delay and subtle neurological signs.
An OTC deficiency ‘phenocopy’ in association with Klinefelter syndrome
Authors: Swarts L. , Leisegang F. , Owen E. P. , Henderson H. E. 
Published: December 2006

SummaryLate‐onset urea cycle disorder in a 20‐month‐old boy is unusually associated with Klinefelter syndrome with a 47XXY karyotype. We record the typical clinical and biochemical findings of ornithine transcarbamylase (OTC) deficiency in a young boy with a short history of recurrent vomiting, self mutilating behaviour, lethargy, ataxia and seizures. Laboratory studies showed hyperammonaemia and orotic aciduria, with normal citrulline and other urea cycle amino acids. Unfortunately, a liver biopsy for OTC activity measurement was refused by the parents. A rapid reversal of phenotype was seen on the introduction of a low‐protein diet with accompanying benzoate and phenylbutyrate administration. Linkage studies suggested the inheritance of two X chromosomes, which was confirmed by karyotype analysis. Sequencing of all exons and immediate splice site regions revealed no sequence alterations in these sections of the OTC gene. A search for skewing of X‐inactivation in the liver was not possible but we did show a random pattern of X‐inactivation in leukocytes. The possibility of maternal X chromosome iso‐disomy in our patient was discounted by microsatellite analysis, which revealed the inheritance of two independent X chromosomes. Mutation analysis in the OTC gene has shown that approximately 20% of patients with liver biopsy confirmed OTC deficiency do not have mutations in the coding or immediate splice‐site sequences of this gene. Their classification as OTC phenocopies remains speculative, awaiting clarification of the underlying DNA alteration. We report on the novel association of OTC deficiency and Klinefelter syndrome with the additional interest of a probable unusual genetic defect underlying the OTC abnormality.
Acute liver failure in pregnancy associated with maternal MCAD deficiency
Authors: Santos L. , Patterson A. , Moreea S. M. , Lippiatt C. M. , Walter J. , Henderson M. 
Published: December 2006

SummaryIn recent years the association between severe pregnancy complications and fetal fatty acid oxidation (FAO) disorders has been reported. However, there are few descriptions of a maternal FAO disorder leading to these complications. We describe acute liver failure associated with an undiagnosed maternal medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency. The previously healthy proband presented at the 39th week with an itchy rash, palmar erythema and trace proteinuria; she was admitted onto a maternity ward. Acute fatty liver was suspected from the blood tests and a Caesarean section was performed, delivering a healthy boy. Cord blood samples were taken at delivery as part of an ongoing research project. The analysis of the cord blood sample showed a high concentration of octanoylcarnitine of 2.3 μmol/L (reference <0.1), suggesting a possible fatty acid oxidation disorder. However, subsequent acylcarnitine analyses of the baby's blood showed a normal pattern. The proband was further evaluated by urine organic acids and acylcarnitine profile. Elevated concentrations of hexanoylglycine in urine and octanoylcarnitine in blood spots were found, consistent with a diagnosis of MCAD deficiency. Mutation analyses confirmed that she was homozygous for c.985A>G (K329E). Even though these pregnancy complications are rare and it is not possible to affirm that the proband's acute liver failure was secondary to an undiagnosed MCAD deficiency, it seems likely.
Finger Injection with High-Dose (1:1,000) Epinephrine: Does it Cause Finger Necrosis and should it be Treated?
Authors: Fitzcharles-Bowe Colleen , Denkler Keith , Lalonde Don 
Published: December 2006

Objectives Accidental finger injections with high-dose (1:1,000) epinephrine is a new and increasing phenomenon. The purpose of this study is to document the incidence of finger necrosis and the treatment for this type of injury. The necessity or type of treatment required for this type of injury has not been established. Methods The literature was reviewed from 1900 to 2005 by hand and by Internet to document all cases of high-dose (1:1,000) finger epinephrine injection. In addition, the authors added five additional cases. Results There are a total of 59 reported cases of finger injections with high-dose epinephrine, of which, 32 cases were untreated. There were no instances of necrosis or skin loss, but neuropraxia lasting as long as 10 weeks and reperfusion pain were carefully documented. Treatment was not uniform for those who received it, but phentolamine was the most commonly used agent. Conclusions There is not one case of finger necrosis in all of the 59 reported cases of finger injections with 1:1,000 epinephrine in the world literature. The necessity or type of treatment of high-dose epinephrine injection injuries remains conjecture, but phentolamine is the most commonly used agent in the reported cases, and the rationale and evidence for its use are discussed
Shear layer solutions of incompressible MHD and dynamo effect
Authors: Gérard-Varet David , Rousset Frédéric 
Published: December 2006

This paper is devoted to the equations of incompressible magnetohydrodynamics (MHD). Its general concern is the “dynamo effect”, i.e. the growth of magnetic field through the movement of a conducting fluid. Motivated by the so-called “stretch-diffuse mechanism”, we study the nonlinear stability of solutions

(u,b = 0)

where the velocity

u

is a regularized vortex sheet, and the magnetic component

b

is zero. We prove that dynamo effect is possible when both curvature of the sheet and magnetic diffusion are non-zero, and impossible otherwise.

Résumé

Cet article est consacré aux équations de la magnétohydrodynamique (MHD) incompressible. Le sujet principal en est l'effet dynamo, c'est-à-dire l'instabilité du champ magnétique, due aux mouvements du fluide conducteur. Motivés par la compréhension du mécanisme dit d' « étirement-diffusion », nous étudions la stabilité non-linéaire de solutions de la forme

(u,b = 0)

où la vitesse

u

est une feuille de tourbillon régularisée, et la composante magnétique

b

est nulle. Nous prouvons que l'effet dynamo est possible si la courbure de la feuille de tourbillon et la diffusion magnétique sont non-nulles, et impossible sinon.
Harnack inequalities, exponential separation, and perturbations of principal Floquet bundles for linear parabolic equations
Authors: Húska Juraj , Poláčik Peter , Safonov Mikhail V. 
Published: December 2006

We consider the Dirichlet problem for linear nonautonomous second order parabolic equations with bounded measurable coefficients on bounded Lipschitz domains. Using a new Harnack-type inequality for quotients of positive solutions, we show that each positive solution exponentially dominates any solution which changes sign for all times. We then examine continuity and robustness properties of a principal Floquet bundle and the associated exponential separation under perturbations of the coefficients and the spatial domain.

Résumé
On considère le problème de Dirichlet pour des équations paraboliques linéaires non autonomes du second ordre avec coefficients bornés mesurables sur un domaine borné de Lipschitz. Utilisant une nouvelle inégalité du type Harnack pour les quotients de solutions strictement positives, on montre que toute solution positive domine exponentiellement toute solution qui change de signe en tout temps. On examine ensuite les propriétés de continuité et de robustesse pour un fibré principal de Floquet et la séparation exponentielle associée à des perturbations des coefficients et du domaine spatial.
Extremal functions for the anisotropic Sobolev inequalities
Authors: El Hamidi A. , Rakotoson J.M. 
Published: December 2006

The existence of multiple nonnegative solutions to the anisotropic critical problem

−\sum \limits_{i = 1}^{N}\frac{\partial }{\partial x_{i}}\left(\left|\frac{\partial u}{\partial x_{i}}\left|^{p_{i}−2}\frac{\partial u}{\partial x_{i}} \right. = |u|^{p^{ \ast }−2}u\:\text{in}\:\mathbb{R}^{N}\right.\right.

is proved in suitable anisotropic Sobolev spaces. The solutions correspond to extremal functions of a certain best Sobolev constant. The main tool in our study is an adaptation of the well-known concentration-compactness lemma of P.-L. Lions to anisotropic operators. Furthermore, we show that the set of nontrival solutions

\mathcal{S}

is included in

L^{\infty }(\mathbb{R}^{N})

and is located outside of a ball of radius

\tau > 0

in

L^{p^{ \ast }}(\mathbb{R}^{N})

.

Résumé

Nous montrons l'existence d'une infinité de solutions positives pour le problème anisotropique avec exposant critique. La méthode consiste à regarder la meilleure constante d'une inégalité du type Poincaré–Sobolev et à adapter le fameux principe de concentration-compacité de P. L. Lions. De plus, on montre que l'ensemble des solutions

\mathcal{S}

est contenu dans

L^{\infty }(\mathbb{R}^{N})

et est localisé en dehors d'une boule de rayon

\tau > 0

dans

L^{p^{ \ast }}(\mathbb{R}^{N})

.
Psychiatric commitment: Over 50 years of case law from the European Court of Human Rights
Authors: Niveau G. , Materi J. 
Published: December 2006

AbstractPurposeTo extensively review the European Court of Human Rights (ECHR) case law concerning psychiatric commitment, and to estimate the role of this supranational jurisprudence in the practice of contemporary psychiatry.MethodUsing keywords to search the ECHR computerised database “HUDOC”, we reviewed all cases concerning psychiatric commitment registered between September 1953 and December 31, 2004. Four groups were identified: applications declared inadmissible; applications accepted but not judged by the Court; pending cases; and cases judged by the Court.ResultsOf the almost 118,000 decisions taken by the ECHR in this time frame, we found 108 situations concerning psychiatric commitment. 41 of these applications were considered by the Court to be inadmissible. 24 other cases were considered admissible but not judged by the ECHR. Three admissible cases were still pending at the end of 2004. The ECHR judged 40 cases, and found in 35 of them that one or several rights as guaranteed by the Convention had been violated.DiscussionThe ECHR protects the human rights of persons subjected to involuntary psychiatric commitment by creating supranational law in the following areas: definition of “unsoundness of mind”; conditions of lawfulness of detention; right to a review of detention by a Court; right to information; right to respect for private and family life; and conditions of confinement, which address inhuman and degrading treatment.The respective number of applications submitted to the ECHR did not depend on when the Convention had entered into force in that country.ConclusionThe possibility of an individual to access the ECHR depends on the degree of democracy in his country and on the access to legal assistance through non-governmental organisations or individual intervening parties.
One-year outcome of low-intensity booster sessions versus care as usual in psychosis patients after a short-term psychoeducational intervention
Authors: Sibitz Ingrid , Amering Michaela , Gössler Ralf , Unger Annemarie , Katschnig Heinz 
Published: December 2006

AbstractObjectiveIn this study we aimed to evaluate long-term effects of a community-based, quality of life oriented psychoeducational intervention for schizophrenia with and without booster sessions.MethodOne hundred and three outpatients with a diagnosis of schizophrenia or schizoaffective disorder completed a 9-week psychoeducational programme. At the end of the programme groups were block-randomised to either an extension programme comprising monthly booster sessions for a further nine months (booster condition) or routine clinical care with no further group meetings (non-booster condition). Outcome measures were applied before and after the seminar and at 6 and 12 months.ResultsPositive effects were observed after the short-term 9-week programme with regard to symptoms, knowledge about the illness, illness concept, control convictions and quality of life. These effects were retained over the 12-month period in both conditions. The only relevant difference between the booster and the non-booster conditions concerned external control convictions.ConclusionOverall this 9-week programme has shown encouraging effects still present at 12 months after baseline independent of booster or non-booster conditions. Further studies are needed to explore whether a subgroup of patients, those with impaired neurocognitive and social functioning, can benefit significantly from booster sessions.
The distribution of urine deposited on a pasture from grazing animals
Authors: PLEASANTS A. B. , SHORTEN P. R. , WAKE G. C. 
Published: December 2006

Intensive agricultural production practices are known to cause far-reaching effects on water quality. The current paper addresses and quantifies these effects caused by high stocking rates.A set of stochastic difference equations describing the development of the proportion of a grazed field either unaffected by urine deposition, or affected by multiple (1, 2, …) urine depositions is described. A solution to this set of equations is found for the expected value of multiple (0, 1, 2, …) urine depositions, and the variances of these depositions. It is assumed that an animal voids urine with a Poisson probability distribution, and that each urine deposition covers a random area with a Gaussian probability density. Given these reasonable assumptions, the probability distributions for each multiplicity of patch distribution can be found numerically.The utility of the results obtained is illustrated for a problem in assessing the nitrogen (N) pollution of ground water from different grazing strategies. It is demonstrated quantitatively that mob stocking (typical of winter management regimes in New Zealand) is often caused by rotational grazing. The latter is often used to optimize grass growth and intake, especially in winter. This increases (more than linearly) the level of N pollution in ground water. This is because of the increased frequency of multiple urine depositions, i.e. more than one urine deposition on the same patch of land in a short time.
Assimilation of radar reflectivity into the LM COSMO model with a high horizontal resolution
Authors: Sokol Z. , Rezacova D. 
Published: December 2006

AbstractAn assimilation of radar reflectivity into a numerical weather prediction (NWP) model with a horizontal resolution of 2.8 km is presented and applied to three severe convective events. The suggested assimilation method takes into account differences between the model and radar‐derived precipitation in modifying vertical profiles of water vapour mixing ratio in each model time step by the nudging approach. Version 3.9 of the LM COSMO (Local Model COSMO) –NWP model used in this study includes the explicit formulation of the cloud and rain processes involved. Two variants of the assimilation technique are designed and outputs of their implementation are compared. The first variant makes use of the ground data only, while the second utilises vertical profiles of precipitation water. Both variants provide an improvement of precipitation forecast in comparison with outputs of the control run without assimilation procedures applied. When the assimilated radar data indicate initial precipitation near an expected storm, the NWP model is capable of forecasting basic features of the storm development two to three hours ahead. Three case studies are presented. In one, the assimilation method that takes into account the vertical structure of the precipitation water yields better results than the others which utilise ground data only. However, for the remaining two case studies both types of the assimilation method produce comparable results. Copyright © 2006 John Wiley & Sons, Ltd.
The changing rainfall regime in Greece and its impact on climatological means
Authors: Pnevmatikos J. D. , Katsoulis B. D. 
Published: December 2006

AbstractThis paper presents an analysis of rainfall amounts in Greece. For this purpose, monthly and annual rainfall data from 36 representative Greek weather stations were analysed statistically. Rainfall is represented by a standardised annual departure calculated as the ratio of the annual departure to the standard departure. The departures were calculated for two regional subdivisions. Clear evidence of changes in Greece's rainfall patterns over the past 25 years were found. The effect of changes on climatological rainfall means (‘normals’) is addressed and possible shifts in the rainy season were investigated. The secular variability of long time‐series of annual rainfall amounts was also examined. In addition, the five‐year running means of annual and monthly rainfall data and ‘normals’ were plotted. Comparisons of the means from the ‘old’ and ‘new’ 10‐, 20‐ and 30‐year, CLINO (Climatological Normal) period 1961–90 (the latest global standard normal period) and from the periods 1900–49 (‘old’ regime) and 1950–99 (‘new’ regime), as well as examination of the secular trend, shows that there is evidence that some parts of Greece have had shifts in their rainfall regime towards drier conditions. In general, rainfall amounts began to decline in the 1980s, a trend which has continued to the present. Most years between 1980 and 1999 experienced below to well‐below ‘normal’ rainfall. Discrepancies between the ‘old’ and ‘new’ mean values for the amounts of rainfall and differences in the duration of rainy season suggest that ‘normal’ rainfall data for various water supply, planning, engineering and agricultural national projects should be calculated for the last 30 years. This is mostly true because of indications of a changing climate in Greece, a fact that requires more recent updating of the climatological ‘normals’. Copyright © 2006 John Wiley & Sons, Ltd.
Spatial interpolation of sunshine duration in Slovenia
Authors: Dolinar Mojca 
Published: December 2006

AbstractThe objective of the present study is the calculation of the spatial distribution of sunshine duration in the territory of Slovenia. Four maps at 1 km resolution were prepared to present the spatial distribution of sunshine duration for winter, spring, summer and autumn. The values on all four maps are 30‐year mean seasonal sunshine duration, calculated from measurements from 43 meteorological stations in the period 1971–2000. The seasonal presentation was chosen due to the high inter‐seasonal variability in spatial distribution of sunshine duration. The values on the maps were calculated on a mathematical horizon, to avoid the influence of geographical, urban and vegetation distortions. The interpolation model is a combination of a multivariate regression model, residual kriging and simple mathematical models. Geographical variables (altitude, latitude and longitude) are used in models to explain the spatial variability of sunshine duration. For each season, regionalisation is performed based on sunshine duration data, derived geographical data and radio‐sounding data. The interpolation models are developed for each region separately and afterwards the calculated layers are merged using GIS techniques. Copyright © 2006 John Wiley & Sons, Ltd.
Uncertainties in radar echo top heights used for hail detection
Authors: Delobbe Laurent , Holleman Iwan 
Published: December 2006

AbstractMost operational hail detection algorithms for single‐polarisation radars are based on the analysis of the vertical profiles of radar reflectivity. At KNMI (Royal Netherlands Meteorological Institute) and RMI (Royal Meteorological Institute of Belgium) the probability of hail is derived from the height of the freezing level and the 45‐dBZ radar echo top height (maximum height of the 45‐dBZ echo). Echo tops are affected by errors in the measured reflectivity itself and by errors in the height assigned to these reflectivities. This study investigates the quality of radar echo top heights as a function of range and explores the implications for hail detection.The method is based on the comparison between reflectivity measurements from two radars on the vertical cross‐section extending between these radars. In a first step, sampling errors related to the radar Volume Coverage Patterns are analysed using idealised storm profiles. Subsequently, real reflectivity data for 25 thunderstorm episodes are compared. It is found that the quality of the maximum reflectivity measurements strongly deteriorates with range and that about half of this degradation can be attributed to overshooting effects. Height assignment differences between the two radars are limited to about 0.5 km. Errors on the reflectivity measurements strongly affect the frequency of 45‐dBZ threshold exceedances. However, once the threshold is exceeded, errors in measuring the 45‐dBZ echo top heights generally affect the derived probability of hail by less than 20%. Copyright © 2006 John Wiley & Sons, Ltd.
The influence of synoptic‐mesoscale winds and sea surface temperature distribution on fog formation near the Korean western peninsula
Authors: Choi Hyo , Speer Milton S. 
Published: December 2006

AbstractWhen high pressure is located near the Korean peninsula, a diffluent wind regime generally occurs over the Yellow Sea. At night or early morning, diffluent westerly winds occur on the western side of the Korean peninsula near Inchon city and encounter a combined land breeze and katabatic easterly offshore wind, resulting in conditions ranging from calm to a moderate westerly wind near the coast. Nocturnal radiational cooling of the land surface and the moisture laden westerly winds can cause air near the coast to become saturated, resulting in coastal advection fog. During the day, on the other hand, the synoptic‐scale westerly wind is reinforced by a westerly sea breeze and is further reinforced by a westerly valley wind directed upslope towards the mountain top. Even if the resulting intensified onshore wind could transport a large amount of moisture from the sea over the land, it would be very difficult for fog to form because the daytime heat flux from the ground would develop the convective boundary layer inland from Inchon city sufficiently to reduce significantly the moisture content of the air. Therefore, fog does not generally form in situ over the inland coastal basin. When an area of cold sea water (10°C average) exists approximately 25–50 km offshore and the sea surface temperature increases towards the coast, air parcels over the cool sea surface are cooled sufficiently to saturation, resulting in the formation of advection sea fog. However, at the coast, nocturnal cooling of the ground further cools the advected moist air driven by the westerly wind and causes coastal advection fog to form. Copyright © 2006 John Wiley & Sons, Ltd.