bluuebunny/crossref_metadata_2025_split huggingface dataset:
Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis
Authors: Martínez‐Frías M.L. , Egüés X. , Puras A. , Hualde J. , de Frutos C.A. , Bermejo E. , Nieto M.A. , Martínez S. 
Published: December 2010

AbstractThanatophoric dysplasia (TD) is a lethal form of short‐limb skeletal dysplasia that is associated with macrocephaly, and variably cloverleaf skull. Two types of TD are clinically recognized, TD1 and TD2, mainly distinguished by their radiographic characteristics. The differences between the two are principally observed in the femur, which appears curved in TD1, while it remains straight but with a proximal medial spike in TD2, and are a less severe overall affectation in TD2. Both types of TD are caused by mutations in different functional domains of the FGFR3 gene. However, whereas several mutations in the different domains of FGFR3 cause TD1, the K650E mutation involving the change of a lysine to glutamic acid (“Lys650Glu”) has been found in all TD2 cases to date. Here we describe a newborn infant with TD2 associated with brain defects that have either been infrequently observed (encephalocele) or not hitherto described (holoprosencephaly). Based on recent studies, we consider encephaloceles described in TD to be pseudoencephaloceles, since they are secondary to the intracranial pressure generated by severe hydrocephaly and to severe cranial structural anomalies. Finally, to analyze the mechanisms of holoprosencephaly observed in the case described here, we include a concise review on the current understanding of how FGFs and their receptors are expressed in the rostral signaling center (particularly Fgf8). In addition, we evaluated recent observations that FGF ligands and receptors (including FGFR3) act in concert to organize the whole telencephalon activity, rather than independently patterning different areas. © 2010 Wiley‐Liss, Inc.
Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X‐inactivation analysis and imaging evaluations
Authors: de Camargo Pinto Louise Lapagesse , Maluf Sharbel Weidner , Leistner‐Segal Sandra , Zimmer da Silva Camila , Brusius‐Facchin Ana , Burin Maira Graef , Brustolin Silvia , Llerena Juan , Moraes Lucia , Vedolin Leonardo , Schuch Alice , Giugliani Roberto , Schwartz Ida Vanessa Doederlein 
Published: December 2010

AbstractFor some X‐linked disorders the expressivity and penetrance in females are almost similar to those ones found in males. For mucopolysaccharidosis type II (MPS II), there are no studies in the literature trying to identify subtle signs and symptoms of this disease in heterozygotes. The objective of this study was to compare heterozygotes and non‐heterozygotes for MPS II, in order to test the hypothesis that heterozygotes may present subtle manifestations of the disease. In this observational and transversal study we collected data on 40 Brazilian women with a positive familial history for MPS II that included clinical and physical exam, karyotype, pattern of X‐inactivation, iduronate‐2‐sulfatase (IDS) activity in leukocytes and plasma, urinary glycosaminoglycans levels, computerized tomography scans (CT) of abdomen and spine, and brain magnetic resonance imaging. The Results showed the following: According to DNA analysis, 22 women were classified as heterozygote and 18 as non‐heterozygotes. We did not find any abnormality on physical examination, karyotype, or spine CT. Also the pattern of X‐inactivation was not different between the groups. Applying the Bonferroni's correction, both groups were found to differ only in relation to IDS activity in plasma and in leukocyte, which were lower in heterozygotes. In our investigation we did not find any evidence of subtle clinical manifestations of MPS II in heterozygotes. Our findings suggest there is no relation between the absence of clinical signs in these women and the occurrence of a favorable skewing pattern of X‐inactivation. © 2010 Wiley‐Liss, Inc.
Genetic diseases in the Tunisian population
Authors: Romdhane Lilia , Abdelhak Sonia ,   for the Research Unit on Molecular Investigation of Genetic Orphan Diseases,   and Collaborators
Published: December 2010

AbstractTunisia is one of the North African countries, geographically situated in a central position at the crossroad between Africa and Europe. The demographic features of the Tunisian population include among others high rates of consanguinity. We report, here on the spectrum of genetic diseases in Tunisia. The review of the literature, including other available information (gray literature) showed that there are at least 346 genetic disorders for which cases have been identified in the Tunisian population. Among these, 62.9% are autosomal recessive, 23% autosomal dominant, 5.4% X‐linked, and the remaining are of Y‐linked, mitochondrial, and unknown mode of transmission. Fifty percent of the reported conditions in this study are caused by at least one mutation. For autosomal recessive diseases, most of the mutations were identified at homozygous state among the affected individuals. Part of the mutations was the result of a founder effect; these are the consequences of the high rate of consanguinity. The congenital malformations, diseases of the nervous system and metabolic disorders are the major groups of genetic diseases affecting the Tunisian population. The large spectrum of diseases and their relatively high frequency could be explained by the high degree of inbreeding and the presence of multiple mutations, either allelic or in different genes. This is due to the richness of the genetic background of the studied population. A multidisciplinary approach is essential to develop adequate preventive programmes adapted to the social, cultural, and economic context. © 2010 Wiley‐Liss, Inc.
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
Authors: Héron Bénédicte , Mikaeloff Yann , Froissart Roseline , Caridade Guillaume , Maire Irène , Caillaud Catherine , Levade Thierry , Chabrol Brigitte , Feillet François , Ogier Hélène , Valayannopoulos Vassili , Michelakakis Helen , Zafeiriou Dimitrios , Lavery Lucy , Wraith Ed , Danos Olivier , Heard Jean‐Michel , Tardieu Marc 
Published: December 2010

AbstractSanfilippo syndrome, or mucopolysaccharidosis type III (MPSIII) is a lysosomal storage disease with predominant neurological manifestations in affected children. It is considered heterogeneous with respect to prevalence, clinical presentation, biochemistry (four biochemical forms of the disease referred to as MPSIIIA, B, C, and D are known), and causative mutations. The perspective of therapeutic options emphasizes the need for better knowledge of MPSIII incidence and natural history. We performed parallel retrospective epidemiological studies of patients diagnosed with MSPIII in France (n = 128), UK (n = 126), and Greece (n = 20) from 1990 to 2006. Incidences ranged from 0.68 per 100,000 live‐births in France to 1.21 per 100,000 live‐births in UK. MPSIIIA, which predominates in France and UK, was absent in Greece, where most patients have MPSIIIB. The study confirmed the large allelic heterogeneity of MPSIIIA and MPSIIIB and detected several yet undescribed mutations. Analysis of clinical manifestations at diagnosis and over a 6–7 years follow‐up indicated that almost all patients, whatever the disease subtype, expressed neurological manifestations before the age of 5 years, including language acquisition delay, cognitive delay, and/or abnormal behavior. In contrast to relatively homogeneous early onset manifestations, disease progression showed significant variation depending on subtype and age at diagnosis. Different severities of disease progressions and different allele distribution between France and UK suggested that mutations are not equally deleterious, although genotype–phenotype correlation could not be established. Notwithstanding the rapidity of further clinical deterioration, all MPSIII patients suffer early onset devastating neurological manifestations that deserve early treatment when available. © 2010 Wiley‐Liss, Inc.
Subthalamic neuronal firing in obsessive‐compulsive disorder and Parkinson disease
Authors: Piallat Brigitte , Polosan Mircea , Fraix Valérie , Goetz Laurent , David Olivier , Fenoy Albert , Torres Napoleon , Quesada Jean‐Louis , Seigneuret Eric , Pollak Pierre , Krack Paul , Bougerol Thierry , Benabid Alim L. , Chabardès Stéphan 
Published: December 2010

AbstractObjectiveAlthough electrophysiologic dysfunction of the subthalamic nucleus is putative, deep brain stimulation of this structure has recently been reported to improve obsessions and compulsions. In Parkinson disease, sensorimotor subthalamic neurons display high‐frequency burst firing, which is considered as an electrophysiologic signature of motor loop dysfunction. We addressed whether such neuronal dysfunction of the subthalamic nucleus also exists in the nonmotor loops involved in patients with obsessive‐compulsive disorder.MethodsWe compared the neuronal activity of the subthalamic nucleus recorded in 9 patients with obsessive‐compulsive disorder with that of 11 patients with Parkinson disease measured during intraoperative exploration for deep brain stimulation.ResultsThe mean subthalamic neuron discharge rate was statistically lower in patients with obsessive‐compulsive disorder than in patients with Parkinson disease (20.5 ± 11.0 Hz, n = 100 and 30.8 ± 15.6 Hz, n = 93, respectively, p < 0.001). The relative proportion of burst neurons did not differ significantly between the 2 diseases (75% vs 73%). Interestingly, burst neurons were predominantly left‐sided in obsessive‐compulsive disorder.InterpretationThe recording of burst neurons within the nonmotor subthalamic nucleus in patients with obsessive‐compulsive disorder is a novel finding that suggests the existence of deregulation of the nonmotor basal ganglia loop, possibly left‐sided. Potentially, burst activity might interfere with normal processes occurring within nonmotor loops. Ann Neurol 2010.
Noradrenergic enhancement improves motor network connectivity in stroke patients
Authors: Wang Ling E. , Fink Gereon R. , Diekhoff Svenja , Rehme Anne K. , Eickhoff Simon B. , Grefkes Christian 
Published: December 2010

AbstractObjectiveBoth animal and human data suggest that noradrenergic stimulation may enhance motor performance after brain damage. We conducted a placebo‐controlled, double‐blind and crossover design study to investigate the effects of noradrenergic stimulation on the cortical motor system in hemiparetic stroke patients.MethodsStroke patients (n = 11) in the subacute or chronic stage with mild‐to‐moderate hand paresis received a single oral dose of 6mg reboxetine (RBX), a selective noradrenaline reuptake inhibitor. We used functional magnetic resonance imaging and dynamic causal modeling to assess changes in neural activity and interregional effective connectivity while patients moved their paretic hand.ResultsRBX stimulation significantly increased maximum grip power and index finger‐tapping frequency of the paretic hand. Enhanced motor performance was associated with a reduction of cortical “hyperactivity” toward physiological levels as observed in healthy control subjects, especially in the ipsilesional ventral premotor cortex (vPMC) and supplementary motor area (SMA), but also in the temporoparietal junction and prefrontal cortex. Connectivity analyses revealed that in stroke patients neural coupling with SMA or vPMC was significantly reduced compared with healthy controls. This “hypoconnectivity” was partially normalized when patients received RBX, especially for the coupling of ipsilesional SMA with primary motor cortex.InterpretationThe data suggest that noradrenergic stimulation by RBX may help to modulate the pathologically altered motor network architecture in stroke patients, resulting in increased coupling of ipsilesional motor areas and thereby improved motor function. Ann Neurol 2011.
Oberflächenchemie Metall‐organischer Gerüste an der Flüssig‐fest‐Grenzfläche
Authors: Zacher Denise , Schmid Rochus , Wöll Christof , Fischer Roland A. 
Published: December 2010

AbstractMetall‐organische Gerüste (metal–organic frameworks, MOFs) sind eine faszinierende Klasse organisch‐anorganischer Hybridmaterialien. Sie beruhen hauptsächlich auf der klassischen Koordinationschemie und versprechen einzigartige Anwendungen von der Gasspeicherung und ‐trennung bis hin zur chemischen Sensorik, Katalyse oder Wirkstoff‐Freisetzung. Die Erschließung des gesamten Potenzials von MOFs, insbesondere für die Nanotechnologie und Systemintegration, erfordert jedoch ein grundlegendes Verständnis der MOF‐Bildungsprozesse sowie die Fähigkeit, die Bildung dünner Filme und die definierte und orientierte Positionierung von nach Größe und Form selektierten Kristallen und MOF‐Heterostrukturen auf einer Oberfläche zu steuern. MOFs sind typischerweise durch Solvothermalreaktionen gebildete Festkörper, und ihre Kristallisation aus der flüssigen Phase wird durch die Wechselwirkungen der einzelnen Bausteine mit der Oberfläche bestimmt. Hier werden verschiedene Aspekte der MOF‐Oberflächenchemie behandelt.
Sanierung des Grabenoberlichtes der Universitätsbibliothek Würzburg
Authors: Pistora Arthur , Siebert Barbara 
Published: December 2010

AbstractDas Grabenoberlicht der Bibliothek der Universität Würzburg Am Hubland wurde in den Jahren 1975 bis 1981 nach Plänen des Architekten Alexander Freiherr von Branca erbaut. Dieses wurde als Vorwegmaßnahme der geplanten Gesamtsanierung der Dachfläche im Jahr 2009 bauphysikalisch und statisch saniert.In Laufe der Jahre kam es zu Glasbrüchen und zu Undichtigkeit in der Konstruktion, die eine Gefährdung für die darunter gelagerten Bücher darstellten. Das Oberlicht wirkte als eine Wärmebrücke mit entsprechenden Beeinträchtigungen für die Besucher und das Personal. So sollte die Konstruktion des Oberlichtes nach über 30‐jähriger Nutzung im Zuge einer Sanierung auf den aktuellen Stand der Wärmedämmung und der Tragsicherheit gebracht werden. Die gesamte Konstruktion des Oberlichtes wurde entsprechend den aktuellen Last‐ und Bemessungsnormen neu nachgewiesen. Zusätzlich wurde für die Verglasung die Anforderung der Durchsturzsicherheit für Wartungs‐ oder Reinigungsarbeiten nachgewiesen.Restoration of the trench skylight of the University Library in Würzburg. At the library of the University of Würzburg built in the years 1975‐1981, a glass roof had to be replaced. The glass roof has the dimensions of 22,5 m × 7,5 m.Many glass panes of the roof were damaged in the last years because pieces of shivers fell on the roof from the neighboring fa�ade. A consequence was also infiltrated water which damaged the wired glass. The overhead glazing has an inclination of 30° to the horizontal and consists of 104 double glazing units of which 12 can be opened as natural smoke and heat exhaust ventilators.
Maßanzug — Zu den Anforderungen an objektbezogene baudynamische Messungen von Glockentürmen
Authors: Steiner Josef , Bißwurm Axel , Krubasik Christoph 
Published: December 2010

AbstractDie dynamischen Eigenschaften von Glockentürmen, insbesondere ihre Eigenfrequenz, sind oft geprägt von einem nichtlinearen Zusammenhang zwischen der Größe der von den Glocken ausgelösten horizontalen Läutekräfte und den dynamischen Reaktionen des Bauwerks. Dies gilt vor allem, wenn geringe Resonanzabstände zu einer erheblichen dynamischen Vergrößerung der einwirkenden Kräfte führen. Bei der messtechnischen Analyse der dynamischen Eigenschaften von Glockentürmen müssen dem Einzelfall angepasste Methoden der Schwingungs‐Anregung eingesetzt werden, die geeignet sind, nichtlineare Effekte aufzuspüren. An problembehafteten Beispielen wird dargestellt, dass für saubere Analysen als Grundlage für wirtschaftliche Instandsetzungsmethoden meistens der Einsatz eines frequenzgesteuerten Unwuchterregers erforderlich ist. Abschließend werden Regeln für dem Einzelfall angepasste Anregungsmethoden von Glockentürmen vorgeschlagen.Tailor‐made suit — Requirements concerning object‐related structural dynamic measurements of bell towers. The dynamic properties of bell towers, and especially their resonance frequency, are often characterised by a non‐linear relationship between the effect of horizontal forces that are released by the bells and the dynamic reactions of the building. This is particularly true if small resonance intervals cause a considerable dynamic increase of the effective forces. In metrological analyses of the dynamic properties of bell towers, it is mandatory to implement methods of oscillation excitation that are adapted to individual cases and allow for the detection of non‐linear effects. It is shown by the examples of a few problematic cases that the use of a frequency‐controlled shaker is usually required for proper analysis as a prerequisite for cost effective repair tasks. Finally, guidelines for methods of oscillation excitement, suitable for individual cases, are provided.
Compliance descriptors: Analysis and evaluation in terms of therapeutic effect
Authors: Sarem Sarem , Li Jun , Nekka Fahima 
Published: December 2010

AbstractThe aim of this work was to evaluate the performance of various compliance parameters in order to identify those which best assess the impact of compliance on therapeutic issues. We will discuss the particularities and restrictions of these parameters by considering two criteria, namely sensitivity index and reliability, which respectively describe strength and robustness of the relationship between these parameters and compliance. Using real and virtual data, performance analysis of compliance parameters was carried out for drugs whose pharmacokinetic properties govern the time course of their actions. Within this context, it was found that the percentage of taken doses (PTD), the most widely used parameter, poorly performed in the evaluation of the therapeutic impact of compliance. On the other hand, the adjusted percentage of correct doses (PCD*) which we propose here, showed the best reliability, making it the most appropriate parameter for the comparison of different compliance patterns. The percentage of correct doses (PCD) has, in its turn, the highest sensitivity index and thus should be preferred for the assessment of changes in compliance. Hence, a perfect parameter for the evaluation of compliance impact cannot be universally identified since each parameter can have its own characteristic advantages and limitations. The methodology proposed here is general enough to be adapted for similar drug classes to evaluate their compliance descriptors. Copyright © 2010 John Wiley & Sons, Ltd.
Possible Effect From Shear Stress on Maturation of Somatic Embryos of Norway Spruce (Picea abies)
Authors: Sun Hong , Aidun Cyrus K. , Egertsdotter Ulrika 
Published: December 2010

AbstractSomatic embryogenesis is the only method with the potential for industrial scale clonal propagation of conifers. Implementation of the method has so far been hampered by the extensive manual labor required for development of the somatic embryos into plants. The utilization of bioreactors is limited since the somatic embryos will not mature and germinate under liquid culture conditions. The negative effect on mature embryo yields from liquid culture conditions has been previously described. We have described the negative effects of shear stress on the development of early stage somatic embryos (proembryogenic masses; PEMs) at shear stresses of 0.086 and 0.14 N/m2. In the present study, additional flow rates were studied to determine the effects of shear stress at lower rates resembling shear stress in a suspension culture flask. The results showed that shear stress at 0.009, 0.014, and 0.029 N/m2 inhibited the PEM expansions comparing with the control group without shear stress. This study also provides validation for the cross‐correlation method previously developed to show the effect of shear stress on early stage embryo suspensor cell formation and polarization. Furthermore, shear stress was shown to positively affect the uptake of water into the cells. The results indicate that the plasmolyzing effect from macromolecules added to liquid culture medium to stimulate maturation of the embryos are affected by liquid culture conditions and thus can affect the conversion of PEMs into mature somatic embryos. Bioeng. 2011; 108:1089–1099. © 2010 Wiley Periodicals, Inc.
Randomized clinical trial of splenic radiofrequency ablation versus splenectomy for severe hypersplenism
Authors: Feng K , Ma K , Liu Q , Wu Q , Dong J , Bie P 
Published: December 2010

Abstract

Background
Radiofrequency ablation (RFA) is a relatively new treatment for hypersplenism. The results of a randomized clinical trial comparing RFA and splenectomy with 5 years of follow-up are reported.

Methods
Fifty-seven patients with hypersplenism due to liver cirrhosis were assigned randomly (in a 1 : 2 ratio) to splenectomy (19 patients) or RFA (38). The RFA group was subdivided according to the percentage of the spleen ablated: less than 50 per cent (9 patients), 50–70 per cent (18) or over 70 per cent (11). Routine blood tests were performed before and after operation, and total spleen volume and ablated volume were measured by contrast-enhanced computed tomography. The primary endpoint of the trial was recurrence of hypersplenism, assessed as platelet and white cell counts, at 5 years after surgery.

Results
White cell and platelet counts increased rapidly after intervention in both groups. By 36 months after operation peripheral platelet and white cell counts had decreased significantly in the RFA group compared with the splenectomy group, and declined to baseline levels by 48 months. Hypersplenism recurred after 6 months in patients with less than 50 per cent of the spleen ablated. Blood cell count in the splenectomy group and in patients with more than 50 per cent of the spleen ablated decreased with time after operation, but to levels that remained significantly higher than those before operation (P &lt; 0·050). Splenic volume reached its nadir 12 months after RFA and then increased with time.

Conclusion
Splenic RFA represents an attractive alternative treatment for hypersplenism induced by liver cirrhosis, particularly when more than 50 per cent of the spleen is ablated.
Early results from a randomized trial of saphenous surgery with or without subfascial endoscopic perforator surgery in patients with a venous ulcer
Authors:   Swedish SEPS Study Group, Nelzén O , Fransson I 
Published: December 2010

Abstract

Background
The aim was to clarify the role of incompetent perforators (IPs) in venous leg ulcers. This short-term report focused on safety, patient satisfaction and the fate of IPs after subfascial endoscopic perforator surgery (SEPS), or saphenous surgery alone.

Methods
Patients aged 30–78 years with an open or recently healed venous ulcer, and with an incompetent saphenous vein and IPs, were allocated randomly to saphenous surgery alone, or in combination with SEPS. A control duplex scan was performed 6–9 months after surgery, and clinical follow-up was scheduled after 1 week, 3 and 12 months. A standard questionnaire was completed at each clinical visit.

Results
Seventy-five patients were enrolled; 37 had SEPS and 38 had saphenous surgery alone. SEPS prolonged the operation by a median of 15 min (P = 0·003). Duplex imaging revealed significantly more remaining IPs in the no-SEPS group (P &lt; 0·001). Compared with the preoperative scan, significantly more legs were free from IPs in the SEPS group compared with the no-SEPS group (21 of 36 versus 7 of 37 respectively; P &lt; 0·001). There were no other major outcome differences between the groups.

Conclusion
There was no short-term clinical benefit from adding SEPS to saphenous surgery in patients with varicose ulcers and IPs, although SEPS reduced the number of perforators remaining after 1 year.