bluuebunny/crossref_metadata_2025_split huggingface dataset:
FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome
Authors: Takahashi S , Matsumoto N , Okayama A , Suzuki N , Araki A , Okajima K , Tanaka H , Miyamoto A 
Published: December 2011

Takahashi S, Matsumoto N, Okayama A, Suzuki N, Araki A, Okajima K, Tanaka H, Miyamoto A. FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome.Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by microcephaly, psychomotor regression, seizures and stereotypical hand movements. Recently, deletions and inactivating mutations in FOXG1, encoding a brain‐specific transcription factor that is critical for forebrain development, have been found to be associated with the congenital variant of RTT. Here we report the clinical features and molecular characteristics of two cases of the congenital variant of RTT. We conducted mutation screenings of FOXG1 in a cohort of 15 Japanese patients with a clinical diagnosis of atypical RTT but without MECP2 and CDKL5 mutations. Two unrelated female patients had heterozygous mutations (c.256dupC, p.Gln86ProfsX35 and c.689G>A, pArg230His). Both showed neurological symptoms from the neonatal period, including hypotonia, irritability and severe microcephaly. Further, their psychomotor development was severely impaired, as indicated by their inability to sit unaided or acquire speech sounds, and they had a hyperkinetic movement disorder, because both displayed hand stereotypies and jerky movements of the upper limbs. Brain magnetic resonance imaging scans revealed delayed myelination with hypoplasia of the corpus callosum and frontal lobe. These cases confirm the involvement of FOXG1 in the molecular etiology of the congenital variant of RTT and show the characteristic features of FOXG1‐related disorder.
Pretransplantation combined therapy with plasmapheresis and rituximab in a second living‐related kidney transplant pediatric recipient with a very high risk for focal segmental glomerulosclerosis recurrence
Authors: Chikamoto Hiroko , Hattori Motoshi , Kuroda Nao , Kajiho Yuko , Matsumura Hideki , Fujii Hiroshi , Ishizuka Kiyonobu , Hisano Masataka , Akioka Yuko , Nozu Kandai , Kaito Hiroshi , Shimizu Maki 
Published: December 2011

Chikamoto H, Hattori M, Kuroda N, Kajiho Y, Matsumura H, Fujii H, Ishizuka K, Hisano M, Akioka Y, Nozu K, Kaito H, Shimizu M. Pretransplantation combined therapy with plasmapheresis and rituximab in a second living‐related kidney transplant pediatric recipient with a very high risk for focal segmental glomerulosclerosis recurrence.  Pediatr Transplantation 2011. © 2011 John Wiley & Sons A/S.Abstract:  Prophylactic PP can provide some protection against post‐transplantation recurrences of FSGS, but it cannot prevent recurrences in all cases. Therefore, new preventive therapies are needed. We report on a 7.9‐yr‐old girl treated with pretransplantation prophylactic combined therapy consisting of four sessions of PP and one dose of rituximab before a second living‐related KTX. The patient had a very high risk of post‐transplantation FSGS recurrence because this had occurred after the first KTX. During the 36 months since the second transplantation, she has had no evidence of proteinuria or significant infectious complications. Although our experience is too preliminary to draw any generalizable conclusions, pretransplantation combined therapy with PP and rituximab might be a possible option for the prevention of FSGS recurrence in very high‐risk recipients undergoing living‐donor KTXs.
Functional evidence for D‐serine inhibition of non‐N‐methyl‐D‐aspartate ionotropic glutamate receptors in retinal neurons
Authors: Daniels Bryan A. , Wood Leah , Tremblay François , Baldridge William H. 
Published: December 2011

AbstractD‐Serine is an important signaling molecule throughout the central nervous system, acting as an N‐methyl‐D‐aspartate (NMDA) receptor coagonist. This study investigated the D‐serine modulation of non‐NMDA ionotropic glutamate receptors expressed by inner retinal neurons. We first identified that the degradation of endogenous retinal D‐serine, by application of D‐amino acid oxidase, caused an enhancement of kainate‐ and α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazoleproprionic acid (AMPA) receptor‐mediated calcium responses from the ganglion cell layer of the isolated rat retina and light‐evoked responses obtained by multi‐electrode array recordings from the guinea pig retina. Approximately 30–45% of cells were endogenously inhibited by D‐serine, as suggested by the effect of D‐amino acid oxidase. Conversely, bath application of D‐serine caused a reduction in multi‐electrode array recorded responses and decreased kainate, but not potassium‐induced calcium responses, in a concentration‐dependent manner (IC50, 280 μm). Using cultured retinal ganglion cells to reduce network influences, D‐serine reduced kainate‐induced calcium responses and AMPA induced whole‐cell currents. Finally, the inhibitory effect of D‐serine on the kainate‐induced calcium response was abolished by IEM 1460, thereby identifying calcium‐permeable AMPA receptors as a potential target for D‐serine. To our knowledge, this is the first study to address specifically the effect of D‐serine on AMPA/kainate receptors in intact central nervous system tissue, to identify its effect on calcium permeable AMPA receptors and to report the endogenous inhibition of AMPA/kainate receptors.
Endothelial dysfunction, inflammation, and oxidative stress in obese children and adolescents: markers and effect of lifestyle intervention
Authors: Montero D. , Walther G. , Perez‐Martin A. , Roche E. , Vinet A. 
Published: December 2011

SummaryWith an increasing prevalence, pediatric obesity is often a prelude to adulthood obesity, and represents a major public health issue. Comorbidities are very common and severe in obese adults, justifying the search for earlier markers or risk factors for cardiovascular diseases in obese children. Endothelial dysfunction has been found to be present in the early stages of atherosclerosis, and can be non‐invasively assessed with widely accepted and well‐standardized techniques at the macrocirculation level. Endothelial dysfunction at the microcirculation level is less documented in obese children. Obesity in children has been repeatedly and independently correlated to endothelial dysfunction, inflammation and oxidative stress markers, although the relationship between these factors remains to be investigated. However, this would not only allow substantial improvements in risk stratification, but also provide essential data regarding the evolution of endothelial dysfunction in childhood obesity, especially during puberty when pro‐inflammatory and pro‐oxidative changes, with relative insulin resistance, occur. Therapeutic strategies such as lifestyle interventions in early childhood obesity appear all the more necessary, optimally including both exercise and diet because of their known effects on inflammatory and oxidative stress markers, potentially reversing endothelial dysfunction.
DISTRIBUTION AND CAPACITY UTILIZATION: CONCEPTUAL ISSUES AND EMPIRICAL EVIDENCE
Authors: Nikiforos Michalis , Foley Duncan K. 
Published: December 2011

ABSTRACTThis paper examines the relationship between the distribution of income and capacity utilization in the context of the Kaleckian model of growth and distribution. We provide an exposition of the underlying theory of wage‐ and profit‐led growth. We emphasize the implications of possible non‐linearities in the determination of the final equilibrium and why—because of them—a redefinition of the concept of wage‐ and profit‐led economy is necessary. We estimate the demand and distribution schedule for the US economy using a two‐stage least squares approach. Our findings confirm the hypothesis of a non‐linear distribution schedule and therefore the need to redefine the concepts wage‐ and profit‐led growth.
Investigation of the Effects of High‐Pressure Hydrogen on Pb(Zr,Ti)O3 (PZT) Ceramics
Authors: Shafiei Ali , Oprea Carmen , Troczynski Tom 
Published: December 2011

Lead–zirconate–titanate Pb(Zr,Ti)O3 (PZT)‐based actuators are being evaluated by the automotive industry for advanced fuel injection systems, including injection of hydrogen. However, hydrogen can penetrate PZT lattice with deleterious effects on the functionality and properties of PZT. The effect of long‐term (200–1200 h) high‐pressure (100 bar) hydrogen exposure on the microstructure and electrical properties of PZT has been investigated in the present work. It is found that while the hydrogen atmosphere has only superficial effects on the microstructure of bare PZT plates, it has considerable deleterious effects on the microstructure of electrode/PZT/electrode assembly. The degradation consisted of the development of a porous layer just beside the electrodes on the PZT surface, detachment of the electrodes from the PZT, and extensive damage to the Ag/Pd electrodes. The effect of hydrogen on the capacitance of the electrode/PZT/electrode assembly was also studied by online monitoring of the changes in capacitance in H2; no noticeable changes were observed in capacitance during the hydrogen treatment under the given conditions.
Functional consequences of prolactin signalling in endothelial cells: a potential link with angiogenesis in pathophysiology?
Authors: Reuwer Anne Q. , Nowak‐Sliwinska Patrycja , Mans Laurie A. , van der Loos Chris M. , von der Thüsen Jan H. , Twickler Marcel Th. B. , Spek C. Arnold , Goffin Vincent , Griffioen Arjan W. , Borensztajn Keren S. 
Published: December 2011

AbstractProlactin is best known as the polypeptide anterior pituitary hormone, which regulates the development of the mammary gland. However, it became clear over the last decade that prolactin contributes to a broad range of pathologies, including breast cancer. Prolactin is also involved in angiogenesisviathe release of pro‐angiogenic factors by leukocytes and epithelial cells. However, whether prolactin also influences endothelial cells, and whether there are functional consequences of prolactin‐induced signalling in the perspective of angiogenesis, remains so far elusive. In the present study, we show that prolactin induces phosphorylation of ERK1/2 and STAT5 and induces tube formation of endothelial cells on Matrigel. These effects are blocked by a specific prolactin receptor antagonist, del1‐9‐G129R‐hPRL. Moreover, in anin vivomodel of the chorioallantoic membrane of the chicken embryo, prolactin enhances vessel density and the tortuosity of the vasculature and pillar formation, which are hallmarks of intussusceptive angiogenesis. Interestingly, while prolactin has only little effect on endothelial cell proliferation, it markedly stimulates endothelial cell migration. Again, migration was reverted by del1‐9‐G129R‐hPRL, indicating a direct effect of prolactin on its receptor. Immunohistochemistry and spectral imaging revealed that the prolactin receptor is present in the microvasculature of human breast carcinoma tissue. Altogether, these results suggest that prolactin may directly stimulate angiogenesis, which could be one of the mechanisms by which prolactin contributes to breast cancer progression, thereby providing a potential tool for intervention.
Adversity and psychosis: a 10‐year prospective study investigating synergism between early and recent adversity in psychosis
Authors: Lataster J. , Myin‐Germeys I. , Lieb R. , Wittchen H.‐U. , van Os J. 
Published: December 2011

Lataster J, Myin‐Germeys I, Lieb R, Wittchen H‐U, van Os J. Adversity and psychosis: a 10‐year prospective study investigating synergism between early and recent adversity in psychosis.Objective:  Recent studies have suggested that early adverse events, such as childhood trauma, may promote enduring liability for psychosis whereas more recent adverse events may act as precipitants. Examination of these environmental dynamics, however, requires prospective studies in large samples. This study examines whether the association between recent adverse events and psychosis is moderated by exposure to early adversity.Method:  A random regional representative population sample of 3021 adolescents and young adults in Munich, Germany, was assessed three times over a period of up to 10 years, collecting information on sociodemographic factors, environmental exposures, and measures of psychopathology and associated clinical relevance. Evidence of statistical non‐additivity between early adversity (two levels) and more recent adversity (four levels) was assessed in models of psychotic symptoms. Analyses were a priori corrected for age, gender, cannabis use, and urbanicity.Results:  Early and recent adversity were associated with each other (RR = 1.32, 95% CI 1.06–1.66; P = 0.014) and displayed statistical non‐additivity at the highest level of exposure to recent adversity (χ2 = 4.59; P = 0.032).Conclusion:  The findings suggest that early adversity may impact on later expression of psychosis either by increasing exposure to later adversity and/or by rendering individuals more sensitive to later adversity if it is severe.
Deciphering the mystery of thalidomide teratogenicity
Authors: Ito Takumi , Handa Hiroshi 
Published: December 2011

ABSTRACTThalidomide was originally developed in 1954 as a sedative that was commonly used to ameliorate morning sickness. However, thalidomide exposure during the first trimester of pregnancy caused multiple birth defects (e.g. phocomelia and amelia), affecting ∼10 000 children worldwide in the late 1950s and early 1960s. Thalidomide is now recognized as a clinically effective, albeit strictly restricted, drug for the treatment of leprosy and multiple myeloma. Investigators have studied thalidomide teratogenicity for half a century, proposing over 30 hypotheses to account for its actions. Among these, the anti‐angiogenesis and oxidative stress models have gained widespread support. Nonetheless, the precise molecular mechanisms and direct targets of thalidomide have not heretofore been elucidated. We developed ferrite‐glycidyl methacrylate beads that enable magnetic separation and efficient purification of ligand‐binding molecules; the beads were recently employed to identify cereblon as a primary target of thalidomide. Cereblon forms an E3 ubiquitin ligase complex with DDB1, Cul4A, and Roc1, which is important for the expression of fibroblast growth factor 8, an essential regulator of limb development. Expression of a drug binding‐deficient mutant of cereblon suppressed thalidomide‐induced effects in zebrafish and chicks. This suggests that thalidomide downregulates fibroblast growth factor 8 expression and induces limb malformation by binding to wild‐type cereblon, inhibiting the function of the associated E3 ubiquitin ligase. The present review summarizes the teratogenicity of thalidomide, including existing models for its mode of action, and discusses the identification of cereblon as a key molecule for deciphering the longstanding mystery of thalidomide teratogenicity.
SENSORY PREFERENCES AND DISCRIMINATION ABILITY OF CHILDREN IN RELATION TO THEIR BODY WEIGHT STATUS
Authors: ALEXY UTE , SCHAEFER ANKE , SAILER OLIVER , BUSCH‐STOCKFISCH MECHTHILD , HUTHMACHER SEBASTIAN , KUNERT JOACHIM , KERSTING MATHILDE 
Published: December 2011

ABSTRACTKnowledge about potential differences in sensory preferences and discrimination ability between normal weight and overweight or obese children might help to better understand the genesis of overweight. Sensory preferences and discrimination ability were analyzed using paired‐comparison blinded sensory tests on preferences (n = 5) and sensitivity (n = 4) in 574 fifth to ninth graders (10–17 years) from five schools in Dortmund. For the examination of the taste categories, sweet, salty and sour, sugar, table salt or citric acid were added to suitable customary foods. Fatty foods were included in the tests using cheese and sausage (salami) in the preference tests and milk with different fat contents in the sensitivity tests. Approximately half of the subjects preferred the more concentrated sample of the sweet (52%), salty (45%) and sour (48%) food, and the high‐fat samples (41 and 49%). Between 60 (fat) and 74% (sweet) of the subjects were able to identify the more concentrated sample in the sensitivity tests. All results of sensory tests were irrespective of body weight status or age‐ and gender‐adjusted body mass index. The hypothesized difference in sensory preferences and discrimination ability of normal weight and overweight/obese children and adolescents could not be confirmed using carefully designed tests in a large sample.PRACTICAL APPLICATIONSThe results of this large study gave no indication of different sensory preferences and discrimination abilities with increasing body weight. Therefore, our study may serve as a valuable contribution to the discussion on why some children become overweight but others do not.
Photoisomerization of Alfa Calcidol by a Sensitized Quantum Chain Reaction†
Authors: Estruch Gastón A. , Aramendía Pedro F. 
Published: December 2011

AbstractThe production of vitamin D3 is a pharmaceutically relevant process, producing high added‐value products. Precursors are extracts from vegetal origin but bearing mainly an E geometry in the 5,6 double bond. The synthesis of vitamin D3 (5‐E‐α‐calcidol) with the correct Z stereochemistry in the 5,6 double bond from the E isomer using anthracene and triethylamine (TEA) as the sensitizer system was studied from the kinetic and mechanistic point of view. The sensitized isomerization of E‐calcidol by irradiation of anthracene takes place only in deoxygenated solution and yields the Z isomer in ca 5% yield in the photostationary state. When TEA is added to the system, the E–Z reaction is not inhibited by oxygen any more, the quantum yield of photoisomerization to the Z isomer grows linearly with the concentration of E‐calcidol, while conversions higher than 95% to the Z isomer are reached in the photostationary state and E–Z quantum yields as high as 45 at [E‐calcidol] = 25 mm are reached. If TEA is replaced by 1,4‐diazabicyclo[2.2.2]octane, the reaction rate drops to one‐third at the same amine concentration. The observations can be explained by a quantum chain reaction mechanism. The high conversion achieved eliminates the need of isomer separation.
OF TAPYROI AND TABLETS, STATES AND TRIBES: THE HISTORICAL GEOGRAPHY OF PASTORALISM IN THE ACHAEMENID HEARTLAND IN GREEK AND ELAMITE SOURCES
Authors: HENKELMAN WOUTER F. M. 
Published: December 2011

Abstract
The Persian tribe of the Tapyroi appears to be at home in the Caspian region according to the classical sources, except for one passage in Arrian's Anabasis. The Elamite texts from the Persepolis Fortification archive now add more information on this second group of Tapyroi. More important, these sources allow for a new contextualization of classical accounts on the tribes of Achaemenid Iran and yield a more complete image of their status within, and interaction with, the state.
Risk factors for race‐associated sudden death in Thoroughbred racehorses in the UK (2000–2007)
Authors: LYLE C. H. , BLISSITT K. J. , KENNEDY R. N. , MC GORUM B. C. , NEWTON J. R. , PARKIN T. D. H. , STIRK A. , BODEN L. A. 
Published: December 2011

SummaryReasons for performing study:Sudden death adversely affects racehorse welfare, jockey safety and the public perception of horseracing.Objective:To describe the risk of racing‐associated sudden death in Thoroughbred racehorses in the UK from 2000 to 2007, to identify whether there were risk factors uniquely associated with sudden death and to improve the understanding of the pathogenesis of racing‐associated sudden death by identification of risk factors for such cases.Methods:A sudden death was defined as an acute collapse and death, in an apparently healthy Thoroughbred racehorse, during or immediately after racing, in the absence of clinical data indicative of a catastrophic orthopaedic injury. The retrospective study included 201 case race starts and 705,712 control race starts. Univariable and multivariable logistic regression were used to identify risk factors for sudden death at any one start.Results:In the multivariable model, age, distance, race type, season and number of starts in the 60 days prior to the race were associated with sudden death.Conclusions:The risk factors identified in this study are not uniquely associated with sudden death and have been also been identified in studies using all causes of fatality as the outcome. These data suggest that a generic approach to reduce fatal musculoskeletal injury and sudden death may be possible.Potential relevance:The identification of risk factors allows speculation on the underlying mechanisms of sudden death in racing. This may stimulate hypothesis‐led investigations into the pathogenesis of exercise‐related arrhythmias, exercise‐induced pulmonary haemorrhage and blood vessel rupture.See also correspondence by Cook
High Frequency of Tropheryma whipplei in Culture-Negative Endocarditis
Authors: Geißdörfer Walter , Moos Verena , Moter Annette , Loddenkemper Christoph , Jansen Andreas , Tandler René , Morguet Andreas J. , Fenollar Florence , Raoult Didier , Bogdan Christian , Schneider Thomas 
Published: December 2011

ABSTRACT

“Classical” Whipple's disease (cWD) is caused by
Tropheryma whipplei
and is characterized by arthropathy, weight loss, and diarrhea.
T. whipplei
infectious endocarditis (TWIE) is rarely reported, either in the context of cWD or as isolated TWIE without signs of systemic infection. The frequency of TWIE is unknown, and systematic studies are lacking. Here, we performed an observational cohort study on the incidence of
T. whipplei
infection in explanted heart valves in two German university centers. Cardiac valves from 1,135 patients were analyzed for bacterial infection using conventional culture techniques, PCR amplification of the bacterial 16S rRNA gene, and subsequent sequencing.
T. whipplei
-positive heart valves were confirmed by specific PCR, fluorescence
in situ
hybridization, immunohistochemistry, histological examination, and culture for
T. whipplei
. Bacterial endocarditis was diagnosed in 255 patients, with streptococci, staphylococci, and enterococci being the main pathogens.
T. whipplei
was the fourth most frequent pathogen, found in 16 (6.3%) cases, and clearly outnumbered
Bartonella quintana
,
Coxiella burnetii
, and members of the HACEK group (
Haemophilus
species,
Actinobacillus actinomycetemcomitans
,
Cardiobacterium hominis
,
Eikenella corrodens
, and
Kingella kingae
). In this cohort,
T. whipplei
was the most commonly found pathogen associated with culture-negative infective endocarditis.