bluuebunny/crossref_metadata_2025_split huggingface dataset:
Dopaminergic deficit is not the rule in orthostatic tremor
Authors: Trocello Jean‐Marc , Zanotti‐Fregonara Paolo , Roze Emmanuel , Apartis Emmanuelle , Legrand André‐Pierre , Habert Marie‐Odile , Devaux Jean‐Yves , Vidailhet Marie 
Published: July 2008

AbstractInvolvement of the dopaminergic system in orthostatic tremor is controversial. The aim of this study was to detect possible dopaminergic denervation in primary orthostatic tremor (OT). Twelve consecutive patients with a firm diagnosis of primary orthostatic tremor were compared with age‐matched normal controls. All the patients had a neurological examination, surface polymyography, and quantification of striatal dopamine transporters with 123I‐FP‐CIT SPECT imaging. There was no significant difference in 123I‐FP‐CIT SPECT findings between controls and patients with OT. Longstanding primary orthostatic tremor is not necessarily associated with 123I‐FP‐CIT SPECT abnormalities, as 8 of our patients had more than a 10‐year history of OT. Primary orthostatic tremor without dopaminergic denervation remains a valid entity, although representing only a subtype of high‐frequency OT. A new role may emerge for 123I‐FP‐CIT SPECT in distinguishing between patients whose symptoms will be restricted to OT throughout the disease course and patients at an increased risk of developing PD. © 2008 Movement Disorder Society
Generalized and neurotransmitter‐selective noradrenergic denervation in Parkinson's disease with orthostatic hypotension
Authors: Sharabi Yehonatan , Imrich Richard , Holmes Courtney , Pechnik Sandra , Goldstein David S 
Published: July 2008

AbstractPatients with Parkinson's disease (PD) often have manifestations of autonomic failure. About 40% have neurogenic orthostatic hypotension (NOH), and among PD+NOH patients virtually all have evidence of cardiac sympathetic denervation; however, whether PD+NOH entails extra‐cardiac noradrenergic denervation has been less clear. Microdialysate concentrations of the main neuronal metabolite of norepinephrine (NE) and dihydroxyphenylglycol (DHPG) were measured in skeletal muscle, and plasma concentrations of NE and DHPG were measured in response to i.v. tyramine, yohimbine, and isoproterenol, in patients with PD+NOH, patients with pure autonomic failure (PAF), which is characterized by generalized catecholaminergic denervation, and control subjects. Microdialysate DHPG concentrations were similarly low in PD+NOH and PAF compared to control subjects (163 ± 25, 153 ± 27, and 304 ± 27 pg/mL, P < 0.01 each vs. control). The two groups also had similarly small plasma DHPG responses to tyramine (71 ± 58 and 82 ± 105 vs. 313 ± 94 pg/mL; P < 0.01 each vs. control) and NE responses to yohimbine (223 ± 37 and 61 ± 15 vs. 672 ± 130 pg/mL, P < 0.01 each vs. control), and virtually absent NE responses to isoproterenol (20 ± 34 and 14 ± 15 vs. 336 ± 78 pg/mL, P < 0.01 each vs. control). Patients with PD+NOH had normal bradycardia responses to edrophonium and normal epinephrine responses to glucagon. The results support the concept of generalized noradrenergic denervation in PD+NOH, with similar severity to that seen in PAF. In contrast, the parasympathetic cholinergic and adrenomedullary hormonal components of the autonomic nervous system seem intact in PD+NOH. © 2008 Movement Disorder Society
Relationship between thermal index and mortality in Hong Kong
Authors: Leung Y. K. , Yip K. M. , Yeung K. H. 
Published: July 2008

AbstractIn summer (May–September), deaths associated with heat stroke are found to occur when the daily maximum net effective temperature (NET) exceeds 26. Using Poisson regression, it is estimated that the mean mortality associated with heat stroke would double per unit rise in NET beyond 26. In contrast to those in most temperate regions, the daily mortality for circulatory and respiratory related causes of death is not statistically correlated to the daily maximum NET or temperature in summer. In winter (November–March), there are statistically significant negative‐lagged correlations between the daily minimum NET and the daily mortality attributed to circulatory and respiratory diseases. The increase in mortality per unit decrease in NET is found to be the highest for hypothermia, and slightly higher for circulatory causes than respiratory causes. Deaths associated with hypothermia start to occur when the daily minimum NET is less than 14 and the mean mortality is estimated to increase by about 1.3‐fold per unit fall in NET below 14. The elderly age group (age ≧ 65 years) is found to be more vulnerable to NET changes when compared to other age groups. Copyright © 2008 Royal Meteorological Society
A positron annihilation study on the microstructure of cyanate ester resin toughened by carboxyl‐terminated butadiene‐acrylonitrile rubber system
Authors: Zeng Minfeng , Sun Xudong , Wang Yun , Zhang Mingzhu , Shen Yongmiao , Wang Baoyi , Qi Chenze 
Published: July 2008

AbstractThe toughness of cyanate ester (CE) resin matrix improves significantly with the addition of carboxyl‐terminated butadiene‐acrylonitrile rubber (CTBN). The curing behavior of the system was studied by differential scanning calorimetry (DSC) and Fourier transform infrared (FTIR) spectroscopy. The results show that carboxyl groups on the CTBN chain have a slight activation effect on the CE curing reaction at the beginning of the curing process. Phase separation was found to be the main toughening mechanism for CE/CTBN composites. The existence of macro‐size pores induced by the decomposition of a small amount of the low weight molecular part of CTBN might be another toughening mechanism. It is confirmed that positron annihilation lifetime spectroscopy (PALS) is still valid in such a system where macropores filled with gas molecules exist. When a high weight percentage of CTBN (>8%) was added to CE, free‐positron annihilation was found to be the dominant annihilation process in the macropores. For CTBN weight percentage higher than 8%, the contribution of ortho‐positronium (o‐Ps) annihilation in the macropores to τ3 and I3 was found to be insignificant. It is effective to use PALS as a probe of free‐volume properties in such systems by determining the changes in the τ3 and I3 of the composite. The compatibility and interfacial adhesion of the composites can be estimated from the changes in the free‐volume properties of the composites. Copyright © 2008 John Wiley & Sons, Ltd.
Preparation and properties of aramid/layered silicate nanocomposites by solution intercalation technique
Authors: Zulfiqar Sonia , Ahmad Zahoor , Sarwar Muhammad Ilyas 
Published: July 2008

AbstractPolymer—clay nanocomposites were synthesized from aromatic polyamide and organoclay using the solution intercalation technique. Polyamide chains were produced through the reaction of 4,4′‐oxydianiline (ODA) and isophthaloyl chloride (IPC) in N, N′‐dimethyl acetamide, using stoichiometry yielding chains with carbonyl chloride end groups. The intercalation of sodium montmorillonite (Na‐MMT) was carried out using p‐phenylene diamine as a swelling agent through an ion exchange reaction. Different concentrations of organoclay were blended with the polyamide solution for complete dispersion of clay throughout the matrix. The resulting composite films were characterized by X‐ray diffraction (XRD), transmission electron microscopy (TEM), mechanical testing, thermogravimetry (TGA), differential scanning calorimetry (DSC) and water absorption measurements. The XRD pattern and morphology of the nanocomposites revealed the formation of exfoliated and intercalated clay platelets in the matrix. The film containing a small amount of clay was semitransparent and had a tensile strength of the order of 70 MPa (relative to the 52 MPa of the pure aramid). Thermal decomposition temperatures were in the range of 300–450°C and the weight of the samples remaining after heating to 900°C was found to be roughly proportional to the clay loading. DSC showed a systematic increase in the glass transition temperature with increase in clay content. Water absorption of the pristine aramid film was rather high (5.7%), which reduced upon loading of organoclay. Copyright © 2008 John Wiley & Sons, Ltd.
Improving CO2 permeability in polymerized room‐temperature ionic liquid gas separation membranes through the formation of a solid composite with a room‐temperature ionic liquid
Authors: Bara Jason E. , Hatakeyama Evan S. , Gin Douglas L. , Noble Richard D. 
Published: July 2008

AbstractRoom‐temperature ionic liquids (RTILs) present a number of unique opportunities for the processing and tailoring of polymer materials for applications including ion conduction polymers, catalysis, and gas separations. Perhaps most importantly, RTILs can be synthesized as monomers and polymerized in the presence of non‐polymerizable RTILs to provide solid composites with enhanced properties. These features allow for the formation of poly(RTIL)–RTIL composite gas separation membranes, exhibiting hybrid properties of both RTILs and polymers. Incorporation of just 20 mol% free RTIL in the polymer membrane yields a stable composite material with a CO2 permeability increase of ∼400% with a 33% improvement to CO2/N2 selectivity relative to the analogous poly(RTIL) membrane lacking any free ion pairs. The composite membrane also showed a significant improvement in CO2/CH4 separation compared to other poly(RTILs) when analyzed via “Robeson Plots.” This new approach to polymer gas separation membranes provides a powerful method to improve the performance of current materials without intensive organic synthesis. Copyright © 2008 John Wiley & Sons, Ltd.
Organic–inorganic nanocomposites of (2‐hydroxypropyl)cellulose as a precursor of nanocrystalline zinc oxide layers
Authors: Bobowska Izabela , Wojciechowski Piotr , Halamus Tomasz 
Published: July 2008

AbstractThe sol–gel method of synthesis of the hybrid nanocomposite films of ZnO/(2‐hydroxypropyl) cellulose (HPC) on silica glass is presented. The sol phases were prepared for different weight ratios of zinc acetate dihydrate to HPC in the presence of triethylamine (TEA). Raman spectrum of the mixture of ZnAc and HPC indicates coordinating interaction between zinc ion and HPC. The generation of ZnO nanoparticles in the HPC matrix proceeds in situ through the annealing of the gel phase at a temperature of 160°C. Identification of ZnO nanoparticles in the HPC matrix is done by using photoluminescence (PL), UV–Vis, and Raman spectroscopy. The films of ZnO/HPC nanocomposite are transparent in the visible light and show a higher energy value of absorption edge compared with ZnO in the bulk. Nanocrystalline films of ZnO were obtained by the calcination of ZnO/HPC nanocomposite at 500°C. ZnO films possess a good transparency for the visible light and high absorbance for UV light. Nanocrystallite sizes of ZnO particles were estimated from the X‐ ray lines broadening. The properties of ZnO layers were studied by the evaluation of PL, X‐ray investigation and atom force microscope (AFM) scanning, and the optical absorption edge. Copyright © 2008 John Wiley & Sons, Ltd.
Screening, identification, and functional analysis of three novel missense mutations in the TRADD gene in children with ALL and ALPS
Authors: Dechant M.J. , Scheuerpflug C.G. , Pauly E. , van der Werff Ten Bosch J. , Debatin K.M. , Fellenberg J. 
Published: July 2008

AbstractBackgroundApoptosis is known to be a crucial process involved in embryogenesis, development and homeostasis of the immune system. Impaired apoptosis causes dysfunction of lymphocyte homeostasis, growth advantage of tumor cells as well as resistance to current treatment protocols. To investigate the role of the apoptosis adaptor molecules TRADD and FADD in the development of hematological diseases, patient samples were screened for mutations in these genes.ProcedureGenomic DNA from 51 children suffering from B‐lineage‐ALL (n = 17), T‐lineage‐ALL (n = 24), ALPS Type Ia (n = 3) and ALPS Type III (n = 7) were analyzed. Genomic DNA from 50 unrelated donors without hematological diseases served as controls. Identified mutations were cloned and their influence on cell viability and NFκB activation was analyzed by flow cytometry and luciferase assay, respectively.ResultsIn the FADD gene no genetic alteration could be detected. However, three novel missense mutations in the TRADD gene could be detected. They are located within a region of TRADD known to exert mainly anti‐apoptotic effects for example through the activation of the NFκB pathway. Functional analysis of cells overexpressing mutant TRADD cDNA demonstrated a reduced NFκB activity and consequently increased cell death compared to wild‐type TRADD.ConclusionMutations in the TRADD gene may contribute to the development of different hematological diseases. The identified mutations demonstrate a putative impact on TRADD signaling and cell survival but may not mainly explain the pathology of the diseases investigated. Pediatr Blood Cancer 2008;51:616–620. © 2008 Wiley‐Liss, Inc.
Intermittent chronic neutropenia in a patient with familial Mediterranean fever
Authors: Ganiou Tidjani K. , Ailal F. , Najib J. , Bellanné‐Chantelot C. , Donadieu J. , Bousfiha A.A. 
Published: July 2008

AbstractA 12‐year‐old daughter of consanguineous Moroccan parents was diagnosed with cyclic neutropenia, based on a combination of recurrent gingivostomatitis, a fluctuating neutrophil count, and several episodes of severe neutropenia. No ELA2 gene mutations were found. At age 19 years she presented with edema of the limbs, proteinuria and renal failure. Renal amyloidosis AA was diagnosed by biopsy. Gene mutations associated with family Mediterranean fever (FMF) were sought, and a homozygous mutation (M694V) was found in the MFEV gene. This is the novel finding of FMF that masqueraded as cyclic neutropenia. Pediatr Blood Cancer 2008;51:701–703. © 2008 Wiley‐Liss, Inc.
Hereditary retinoblastoma transmitted by maternal germline mosaicism
Authors: Barbosa Raquel H. , Vargas Fernando R. , Aguiar Fernanda C.C. , Ferman Sima , Lucena Evandro , Bonvicino Cibele R. , Seuánez Héctor N. 
Published: July 2008

AbstractBackgroundInvestigating transmission of a constitutive, g78238C > T (R552X), RB1 mutation in four affected children descended from three different unaffected fathers and an unaffected mother.ProceduresSequence data analyses and allele‐specific PCR assays were used to investigate the presence of the mutation in four affected children, five unaffected sibs (or half‐sibs), and the unaffected mother. Haplotyping was carried out for confirming that the children descended from different fathers.ResultsHaplotyping excluded the possibility of paternal transmission of a de novo mutation and provided evidence of maternal germline mosaicism. The mutation was apparently absent in blood‐ and buccal cell‐DNA of the mother who also showed a normal fundoscopy.ConclusionsOur findings indicated that mosaicism was restricted to the maternal germline. The mutational event must have occurred at least 4 weeks post‐conception, unlike the early mutational events of most mosaics, occurring between fertilization and the 8th day of conception. The implications of these findings are discussed in view that genetic counselling should discriminate between germline mosaicism and de novo events in pseudo‐low‐penetrant hereditary retinoblastoma. Pediatr Blood Cancer 2008;51:598–602. © 2008 Wiley‐Liss, Inc.
Encephalopathy syndrome in children with hemato‐oncological disorders is not always posterior and reversible
Authors: Lucchini Giovanna , Grioni Daniele , Colombini Antonella , Contri Margherita , De Grandi Carlo , Rovelli Attilio , Conter Valentino , Masera Giuseppe , Jankovic Momcilo 
Published: July 2008

AbstractBackgroundPosterior reversible leukoencephalopathy (PRES) is a clinical‐radiological event that can affect children undergoing chemotherapy regimen. Studies have shown that it is not always reversible, in spite of its original definition. We analyzed PRES cases which occurred during the last 10 years at our institute to focus on their clinical, radiological and EEG follow‐up.ProceduresWe analyzed 12 cases of PRES in children who underwent intensive chemotherapy regimens, detailing the acute neurological presentation of the syndrome, their neuro‐imaging characteristics (MRI) and EEG findings, in both an acute phase and during follow‐up.ResultsAll patients survived the acute event, showing a clinical recovery of the acute neurological signs in 1–3 days and normalization of the EEG pattern in a period ranging from 1 to 8 months. During long term follow‐up, four patients developed either clinical impairment or EEG‐MRI anomalies.ConclusionsWe suggest that a long term follow‐up is necessary to determine the reversibility of the neurological events. Clinical observation, as well as EEG and MRI should be included in follow‐up evaluations. Pediatr Blood Cancer 2008;51:629–633. © 2008 Wiley‐Liss, Inc.
Current awareness in prenatal diagnosis
Authors:   John Wiley & Sons, Ltd.
Published: July 2008

AbstractIn order to keep subscribers up‐to‐date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Reviews; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre‐implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted
Prader‐Willi syndrome: is there a recognizable fetal phenotype?
Authors: Bigi Nicole , Faure Jean‐Michel , Coubes Christine , Puechberty Jacques , Lefort Geneviève , Sarda Pierre , Blanchet Patricia 
Published: July 2008

AbstractObjectivesTo determine fetal features, which could lead to the diagnosis of Prader‐Willi syndrome (PWS) during pregnancy.MethodsWe analyze the ultrasound features, genetic studies and pathologic findings in two cases of PWS diagnosed during pregnancy.ResultsIn the first case, diminished fetal movement, polyhydramnios and oddly positioned hands and feet suggested PWS. Methylation studies confirmed diagnosis and a deletion was detected in the 15q11‐q13 region. In the second case, similar ultrasound findings led to prenatal diagnosis of PWS with an abnormal methylation pattern compatible with uniparental disomy. Both fetuses had a characteristic appearance at 28 and 30 weeks' gestation, which included a peculiar position of hands with flexed wrists and dorsi‐extended feet with flexed toes.ConclusionsThe peculiar position of the extremities combined with diminished fetal movement and polyhydramnios seems to be characteristic and should suggest PWS. Copyright © 2008 John Wiley & Sons, Ltd.
Informed choice to undergo prenatal screening for thalassemia: a description of written information given to pregnant women in Europe and beyond
Authors: Van den Heuvel Ananda , Hollywood Amelia , Hogg Julie , Dormandy Elizabeth , Chitty Lyn , Kabra Madhulika , Ma Runmei , Masturzo Bianca , Marteau Theresa M. 
Published: July 2008

AbstractPurposeTo investigate whether prenatal screening for thalassemia is presented as a choice, and how the condition is described in written information given to pregnant women in different countries.MethodOne leaflet from each of seven countries (UK, The Netherlands, Greece, Italy, Israel, India and China) was collected for evaluation. Statements relating to choice and those describing the condition were extracted for analysis.ResultsThe leaflets varied in length from 26 to 74 sentences (mean: 42). Overall, more sentences were devoted to describing the condition (mean: 5) than to conveying choice (mean: 2). Leaflets from Northern Europe contained the highest proportion of sentences relating to choice, while those from Italy and Israel contained none. The majority of sentences describing thalassemia were classified as negative. The leaflets from China and India contained the highest proportion of negative sentences and the leaflets from the Netherlands and Italy, the lowest.ConclusionFor women to make an informed decision they need to be offered a choice and given balanced information regarding the condition for which screening is being offered. The results of this study raise doubts as to the extent to which prenatal services in many countries are facilitating informed choices. Copyright © 2008 John Wiley & Sons, Ltd.
Down syndrome biochemical markers and screening for preeclampsia at first and second trimester: correlation with the week of onset and the severity
Authors: Kang Jin Hee , Farina Antonio , Park Ji Hyeon , Kim Sung Han , Kim Ji Yeon , Rizzo Nicola , Elmakky Amira , Jun Hye Sun , Hahn Won Bo , Cha Dong Hyun 
Published: July 2008

AbstractObjectivesTo estimate the combined screening performance of first and early second trimester prenatal serum markers for Down syndrome, in screening for the development of preeclampsia, and analyze the correlation among marker levels, week of onset, and severity of the disease.MethodsA retrospective cohort study was carried out on 32 women with preeclampsia and 3044 controls. Serum samples from these pregnancies were assayed for pregnancy‐associated plasma protein‐A (PAPP‐A), alpha‐fetoprotein (AFP), unconjugated estriol (uE3), human chorionic gonadotrophin (hCG), and inhibin‐A. A likelihood ratio and the odds of being affected given a positive result (OAPR) of various combinations of markers were calculated and receiver operating characteristic (ROC) curves analysis was performed.ResultsIn the pregnancies that subsequently developed preeclampsia, first trimester PAPP‐A concentration was significantly lower and concentrations of early second trimester inhibin‐A and hCG significantly elevated. Levels of early second trimester uE3 and AFP were not significantly altered. We also found that inhibin‐A correlates with both onset of the disease and the severity.ConclusionDown syndrome biochemical markers levels are altered in those patients who subsequently developed preeclampsia and may be a useful screening test for preeclampsia. Inhibin‐A is the most predictive marker and correlates with the severity of subsequent preeclampsia and inversely with the week of occurrence of preeclampsia. Copyright © 2008 John Wiley & Sons, Ltd.