bluuebunny/crossref_metadata_2025_split huggingface dataset:
A case of Kabuki make‐up syndrome with EBV+ Burkitt's lymphoma
Authors: IJICHI OSAMU , KAWAKAMI KIYOSHI , MATSUDA YUKIHISA , IKARIMOTO NAOAKI , MIYATA KOICHIRO , TAKAMATSU HIDEO , TOKUNAGA MASAYOSHI 
Published: January 2011

AbstractKabuki make‐up syndrome was first reported in 1981 and is characterized by peculiar facies with post natal growth deficiency and mental retardation. Since the first report, approximately 100 cases have been reported, but there have been no reports of tumor development. A case is reported of a patient with Kabuki make‐up syndrome who developed malignant lymphoma in his abdomen at the age of 3 years. The tumor was histologically diagnosed as Burkitt's lymphoma and Epstein‐Barr virus was detected by in situ hybridization.
Gene therapy for ornithine transcarbamylase deficiency
Authors: KIWAKI KOHJI , MATSUDA ICHIRO 
Published: January 2011

AbstractOrnithine transcarbamylase (OTC) deficiency in humans is the most common and severe inborn error of the urea cycle. Despite therapeutic advances, OTC deficiency remains without adequate treatment, hence mortality rates are high. In the two available strains of OTC‐deficient murine models, spf and spfash, researchers have tried to make genetic corrections by introducing the OTC gene. Transient but complete recovery of OTC was obtained in adult spfash mice and in OTC‐deficient human primary hepatocytes, using a recombinant adenoviral vector. These experiments represent a first step in the development of human gene therapy for OTC deficiency and other hepatic enzyme deficiencies.
Improvement of bone disease with increased dose of glucocerebrosidase in a Gaucher disease patient who had a bone lesion presenting during low‐dose enzyme replacement therapy
Authors: UEDA TAKAHIRO , FUKUNAGA YOSHITAKA , MIGITA MAKOTO , WATANABE ATSUSHI , KANEKO KIYOSHI , MORITA TOSHISADA , YAMAMOTO MASAO 
Published: January 2011

AbstractIn recent years, enzyme replacement therapy has been shown to be useful for the treatment of Gaucher disease. A 10 year old Japanese boy with Gaucher disease underwent splenectomy at the age of 5 years and received enzyme replacement therapy from the age of 6 years. He had avascular necrosis of the bilateral femoral heads, which was not seen at the beginning of the therapy, without deterioration of hematological variables during maintenance therapy. The enzyme dosage was increased from 20 to 120 IU/kg per month resulting in an improvement of the clinical symptoms and bone lesion. In enzyme replacement therapy, dose increase is considered to be essential for improvement in bone disease; however, it is important to watch for the development of bone lesion.
Leukophagocytosis in human parvovirus B19‐induced transient bicytopenia in a healthy child
Authors: WAKAMOTO HIROYUKI , MIYAZAKI MASAAKI 
Published: January 2011

AbstractA previously healthy 11 year old boy had transient leukopenia and thrombocytopenia associated with human parvovirus B19 (B19) infection. This case suggested that low‐grade hemophagocytosis can be involved in developing B19‐related cytopenia even in an otherwise healthy child. Bone marrow aspiration at an early stage could reveal the underlying mechanism of B19‐related cytopenia.
Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia
Authors: FOSTER JAMIE W 
Published: January 2011

AbstractThe human testis determining factor (SRY) has been cloned from the Y chromosome. This gene is a dominant inducer of male differentiation. Mutations in the SRY gene result in an XY individual developing as a sex reversed phenotypic female. Sex reversal in humans can also be caused by mutations located in autosomal or X‐linked loci. One such sex‐reversing locus (SRAI) is associated with the developmental disorder campomelic dysplasia (CD). Both these syndromes were mapped to human chromosome 17q by the identification of balanced reciprocal translocations in five unrelated patients. The translocation breakpoint of one such XY‐female CD patient was mapped and the region surrounding it cloned. The closest distal marker used to map the translocation breakpoint was the SOX9 gene. Because of the close proximity of this gene to the breakpoint, it was subjected to mutation analysis in patients without overt chromosome rearrangements. Analysis of DNA from these patients and their parents identified de novo mutations in the SOX9 gene in patients with both autosomal sex reversal and CD. This showed that mutations in the SOX9 gene are responsible for both syndromes.
Ofloxacin versus co‐trimoxazole in the treatment of typhoid fever in children
Authors: SEÇMEER GÜLTEN , KANRA GÜLER , FIGEN GONCA , AKAN ÖZAY , CEYHAN MEHMET , ECEVIT ZAFER 
Published: January 2011

AbstractOfloxacin has been successfully used in the treatment of typhoid fever and Salmonella infections of adults for many years. However, it has rarely been tried for the typhoid fever of children. In the present study, the therapeutic efficacy of ofloxacin in the treatment of typhoid fever in children was compared to that of co‐trimoxazole. Out of 41 patients with bacteriologically documented typhoid fever, those with co‐trimoxazole‐resistant strains received 20 mg/kg ofloxacin twice daily for 10 days, and those with co‐trimoxazole‐susceptible bacteria were given 60 mg/kg co‐trimoxazole twice daily for 10 days. Both groups were compared according to the clinical variables (apyrexia, resolution of gastrointestinal, central nervous system reactions and articular symptoms) and the time when cultures became negative. All patients in both groups were cured without relapse. Apyrexia, resolution of gastrointestinal, central nervous system reactions and articular symptoms were obtained in a significantly shorter time with ofloxacin than with co‐trimoxazole (P < 0.05). The interval between onset of therapy and the time when cultures became negative was significantly shorter in the ofloxacin group than in the co‐trimoxazole group (P = 0.005). Ofloxacin seems to be a good alternative in the treatment of typhoid fever caused by co‐trimoxazole resistant salmonellae in children aged less than 16 years. It is well tolerated by the patients and it causes no side effects with short‐term usage.
Double‐outlet right ventricle with intact ventricular septum
Authors: IKEMOTO YUMIKO , NOGI SHUNJI , TERAGUCHI MASAYUKI , IMAMURA HIROJI , KOBAYASHI YOHNOSUKE 
Published: January 2011

AbstractAn infant with double‐outlet right ventricle (DORV) with intact ventricular septum (VS) is described. Hypoplastic left ventricle and mitral valve atresia were also associated. To the authors' knowledge, this appears to be the first case in which this rare form has been demonstrated with magnetic resonance imaging (MRI). The patient required balloon atrial septostomy (BAS) three times until 4 months of age because of progressive cyanosis. In such a form of DORV, surgical atrial septectomy should be performed instead of repeating BAS because the tendency to functional closure of the restrictive secundum arterial septal defect caused by incompetent foramen ovale seems to be prominent.
Gender differences in pain modulation by a sweet stimulus in adults: A randomized study
Authors: Kakeda Takahiro , Ishikawa Toshizo 
Published: January 2011

AbstractThis study aimed to examine whether or not there are gender differences in sweet stimulus‐induced analgesia for cold pain in adults. In a randomized cross‐over design, twenty men and 20 women held either a 24% sucrose solution or distilled water in their mouth before and while they immersed their hand in cold water and their pain response was examined. Unlike the women, when the men held the sucrose solution in their mouth, the latency of the onset of pain significantly increased, compared with the distilled water. Meanwhile, the level of pain tolerance was not significantly different for both sexes. The findings reveal that the analgesic effect of a sweet stimulus on the pain threshold is influenced by gender differences in human adults, indicating that sweet stimulus‐induced analgesia has a brief analgesic effect, particularly for men. Although more research is warranted, the sweet stimulus could be put to practical application as an adjunct to acute pain management for men.
Scaling‐up Foreign Aid: Will the ‘Big Push’ Work?
Authors: Feeny Simon , McGillivray Mark 
Published: January 2011

AbstractInternational donors are substantially scaling‐up aid programmes. At the same time, there are widespread reservations over how much aid recipient countries can use effectively. Such concerns are supported by the aid effectiveness literature which finds that there are limits to the amounts of aid recipients can efficiently absorb. This article demonstrates that a ‘big push’ in foreign aid will not lead to diminishing returns as long as donors get the inter‐country allocation of aid right. This is true even if donors provide aid at levels equal to the well‐known target of 0.7 per cent of their gross national income.
AMERICAN HISTORY IN A GLOBAL AGE1
Authors: NEEM JOHANN N. 
Published: January 2011

ABSTRACTHistorians around the world have sought to move beyond national history. In doing so, they often conflate ethical and methodological arguments against national history. This essay, first, draws a clear line between the ethical and the methodological arguments concerning national history. It then offers a rationale for the continued writing of national history in general, and American history in particular, in today's global age.The essay makes two main points. First, it argues that nationalism, and thus the national histories that sustain national identities, are vital to liberal democratic societies because they ensure the social bonds necessary to enable democratic citizens to sacrifice their immediate interests for the common good. The essay then argues that new methodological and historical work on the history of nations and nationalism has proven that nations are as real as any other historical group. Rejecting national history on critics' terms would require rejecting the history of all groups. Instead, new methods of studying nations and nationalism have reinforced rather than undermined the legitimacy of national history within the discipline.
WikiLeaks and the Perils of Extreme Glasnost
Authors: MOROZOV EVGENY 
Published: January 2011

Is Internet freedom an absolute, universal value like freedom of speech? If there are limits, how and by whom can they be established? Is crying fire or scaling firewalls anymore acceptable in cyberspace than in physical space? What is the impact on the discourse between nations, cultures and individuals?In this section, we gather a collage of comments from various key players from Google to Wikileaks to the US State Department along with comments by one of the most cogent analysts of the Net and the president of Turkey.
miR‐181 as a putative biomarker for lymph‐node metastasis of oral squamous cell carcinoma
Authors: Yang Cheng‐Chieh , Hung Pei‐Shih , Wang Pei‐Wen , Liu Chung‐Ji , Chu Ting‐Hui , Cheng Hui‐Wen , Lin Shu‐Chun 
Published: January 2011

J Oral Pathol Med (2011) 40: 397–404Background:  Oral squamous cell carcinoma (OSCC) is an important malignant disease around the world. Aberrant expression of MicroRNAs (miRNAs) has been implicated in carcinogenesis of various cancers. In previous studies, up‐regulation of miR‐181 was observed when OSCC progressed from leukoplakia, dysplasia to invasive carcinoma. However, the function of miR‐181 in oral tumorigenesis remains unclear.Materials and methods:  The expression levels of miR‐181 in the tissue and plasma of OSCC patients were measured by quantitative RT‐PCR. The correlation between miR‐181 level and multiple clinical variables were then checked by Mann–Whitney test and Wilcoxon matched pairs test. To study the functional meaning of up‐regulated miR‐181, migration assay and invasion assay by transwells and colony forming assay were applied to analyze the tumorigenic phenotypes of OSCC cells with ectopical expression of miR‐181.Results:  Among different clinical variables, over‐expression of miR‐181 was correlated with lymph‐node metastasis, vascular invasion, and a poor survival. Functional assays revealed ectopically over‐expressed miR‐181 would enhance cell migration and invasion, but not the ability of anchorage‐independent growth of OSCC cells. In addition, the up‐regulation of miR‐181 could be detected both in tumor tissues and plasma.Conclusion:  miR‐181 may enhance lymph‐node metastasis through regulating migration, which could potentially be exploited as a putative biomarker for patients with OSCC.
Study on the Relationship Between Different Cytokines in the Semen of Infertility Patients
Authors: Qian Li , Sun Gang , Zhou Baocheng , Wang Gang , Song Jicheng , He HaoMing 
Published: January 2011

Citation Qian L, Sun G, Zhou B, Wang G, Song J, He HM. Study on the relationship between different cytokines in the semen of infertility patients. Am J Reprod Immunol 2011; 66: 157–161Problem The relationship between different cytokines in the semen of infertility patients was investigated.Method of study Fifty‐seven semen samples were collected from infertility and normal group at Lianyungang Maternal and Child Hospital. Routine analysis including determination of the levels of IL‐23, IL‐6, and TNF‐α was carried out.Results Density, percentage of sperm moving forward, activity, survival rate, and proportion of normal morphology of sperm of normal group were significantly higher than those of infertility group (P < 0.001). Amount and pH of the semen from the two groups showed no difference. However, there is a significant difference in IL‐23 contents of semen in the normal (5.87 pg/mL) and abnormal (11.14 pg/mL) group (P < 0.001). The correlation coefficients (R) of the contents of IL‐23 to IL‐6, IL‐8, and TNF‐α were 0.8706 (R2 = 0.758,P < 0.001), 0.9725 (R2 = 0.9458,P < 0.001), and 0.9499 (R2 = 0.9024,P < 0.001), respectively.Conclusion IL‐23 contents of semen are different in the normal and abnormal group and have positive correlations between IL‐6, IL‐8, and TNF‐α, respectively.
Serum concentrations of Anti‐Müllerian Hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidism
Authors: Aksglaede Lise , Christiansen Peter , Sørensen Kaspar , Boas Malene , Linneberg Allan , Main Katharina M , Andersson Anna‐Maria , Skakkebæk Niels E , Juul Anders 
Published: January 2011

AbstractAim:  Anti‐Müllerian hormone (AMH) is produced by foetal Sertoli cells at the time of sexual differentiation and is responsible for the regression of the Müllerian ducts in the male foetus. AMH is a testis‐specific marker of diagnostic value in infants with ambiguous genitalia or with bilateral cryptorchidism. However, little is known about AMH in boys and adult men with normal or abnormal gonadal function. We therefore aimed at determining circulating AMH concentrations in patients with 47,XXY Klinefelter syndrome (KS) with or without cryptorchidism.Methods:  AMH was determined in 95 47,XXY patients aged 0.2–64.5 years, of which 12 patients had a history of cryptorchidism.Results:  AMH was within the normal range in boys with Klinefelter syndrome until puberty. The pubertal decline was delayed, especially in patients with a history of cryptorchidism. AMH was below −2 SD in 85% of adult KS.Conclusion:  AMH secretion in patients with 47,XXY KS was within normal limits during mini‐puberty and until puberty. Thereafter, AMH declined to subnormal levels in all patients. We hypothesize that this decline was a result of the hyalinization of seminiferous tubules in relation to puberty, rather than caused by disrupted regulatory mechanisms at the level of the pituitary–gonadal axis.
Thiostrepton and Derivatives Exhibit Antimalarial and Gametocytocidal Activity by Dually Targeting Parasite Proteasome and Apicoplast
Authors: Aminake Makoah N. , Schoof Sebastian , Sologub Ludmilla , Leubner Monika , Kirschner Marc , Arndt Hans-Dieter , Pradel Gabriele 
Published: January 2011

ABSTRACT

Ribosome-targeting antibiotics exert their antimalarial activity on the apicoplast of the malaria parasite, an organelle of prokaryote origin having essential metabolic functions. These antibiotics typically cause a delayed-death phenotype, which manifests in parasite killing during the second replication cycle following administration. As an exception, treatment with the antibiotic thiostrepton results in an immediate killing. We recently demonstrated that thiostrepton and its derivatives interfere with the eukaryotic proteasome, a multimeric protease complex that is important for the degradation of ubiquitinated proteins. Here, we report that the thiostrepton-based compounds are active against chloroquine-sensitive and -resistant
Plasmodium falciparum
, where they rapidly eliminate parasites before DNA replication. The minor parasite fraction that escapes the fast killing of the first replication cycle is arrested in the schizont stage of the following cycle, displaying a delayed-death phenotype. Thiostrepton further exhibits gametocytocidal activity by eliminating gametocytes, the sexual precursor cells that are crucial for parasite transmission to the mosquito. Compound treatment results in an accumulation of ubiquitinated proteins in the blood stages, indicating an effect on the parasite proteasome. In accordance with these findings, expression profiling revealed that the proteasome is present in the nucleus and cytoplasm of trophozoites, schizonts, and gametocytes. In conclusion, thiostrepton derivatives represent promising candidates for malaria therapy by dually acting on two independent targets, the parasite proteasome and the apicoplast, with the capacity to eliminate both intraerythrocytic asexual and transmission stages of the parasite.
In Vitro
and
In Vivo
Properties of BAL30376, a β-Lactam and Dual β-Lactamase Inhibitor Combination with Enhanced Activity against Gram-Negative Bacilli That Express Multiple β-Lactamases
Authors: Page Malcolm G. P. , Dantier Clothilde , Desarbre Eric , Gaucher Bérangère , Gebhardt Klaus , Schmitt-Hoffmann Anne 
Published: January 2011

ABSTRACT

BAL30376 is a triple combination comprising a siderophore monobactam,
BAL19764
; a novel bridged monobactam,
BAL29880
, which specifically inhibits class C β-lactamases; and clavulanic acid, which inhibits many class A and some class D β-lactamases. The MIC
90
was ≤4 μg/ml (expressed as the concentration of
BAL19764
) for most species of the
Enterobacteriaceae
family, including strains that produced metallo-β-lactamases and were resistant to all of the other β-lactams tested. The MIC
90
for
Stenotrophomonas maltophilia
was 2 μg/ml, for multidrug-resistant (MDR)
Pseudomonas aeruginosa
it was 8 μg/ml, and for MDR
Acinetobacter
and
Burkholderia
spp. it was 16 μg/ml. The presence of the class C β-lactamase inhibitor
BAL29880
contributed significantly to the activity of
BAL30376
against strains of
Citrobacter freundii
,
Enterobacter
species,
Serratia marcescens
, and
P. aeruginosa
. The presence of clavulanic acid contributed significantly to the activity against many strains of
Escherichia coli
and
Klebsiella pneumoniae
that produced class A extended-spectrum β-lactamases. The activity of
BAL30376
against strains with metallo-β-lactamases was largely attributable to the intrinsic stability of the monobactam
BAL19764
toward these enzymes. Considering its three components,
BAL30376
was unexpectedly refractory toward the development of stable resistance.
Seasonal Changes of Freshwater Ammonia-Oxidizing Archaeal Assemblages and Nitrogen Species in Oligotrophic Alpine Lakes
Authors: Auguet Jean-Christophe , Nomokonova Natalya , Camarero Lluis , Casamayor Emilio O. 
Published: January 2011

ABSTRACT

The annual changes in the composition and abundance of ammonia-oxidizing archaea (AOA) were analyzed monthly in surface waters of three high mountain lakes within the Limnological Observatory of the Pyrenees (LOOP; northeast Spain) using both 16S rRNA and functional (ammonia monooxygenase gene,
amoA
) gene sequencing as well as quantitative PCR amplification. The set of biological data was related to changes in nitrogen species and to other relevant environmental variables. The whole archaeal assemblage was dominated by phylotypes closely related to the crenarchaeal 1.1a group (58% ± 18% of total 16S rRNA gene sequences), and consistent structural changes were detected during the study. Water temperature was the environmental variable that better explained spring, summer, and winter (ice-covered lakes) archaeal assemblage structure. The
amoA
gene was detected year round, and seasonal changes in
amoA
gene composition were well correlated with changes in the archaeal 16S rRNA gene pool. In addition, copy numbers of both the specific 1.1a group 16 rRNA and archaeal
amoA
genes were well correlated, suggesting that most freshwater 1.1a
Crenarchaeota
had the potential to carry out ammonia oxidation. Seasonal changes in the diversity and abundance of AOA (i.e.,
amoA
) were better explained by temporal changes in ammonium, the substrate for nitrification, and mostly nitrite, the product of ammonia oxidation. Lacustrine
amoA
gene sequences grouped in coherent freshwater phylogenetic clusters, suggesting that freshwater habitats harbor typical
amoA
-containing ecotypes, which is different from soils and seas. We observed within the freshwater
amoA
gene sequence pool a high genetic divergence (translating to up to 32% amino acid divergence) between the spring and the remaining AOA assemblages. This suggests that different AOA ecotypes are adapted to different temporal ecological niches in these lakes.
Diversity of Multidrug-Resistant
Salmonella enterica
Strains Associated with Cattle at Harvest in the United States
Authors: Brichta-Harhay Dayna M. , Arthur Terrance M. , Bosilevac Joseph M. , Kalchayanand Norasak , Shackelford Steven D. , Wheeler Tommy L. , Koohmaraie Mohammad 
Published: January 2011

ABSTRACT

The prevalence and diversity of multidrug-resistant (MDR)
Salmonella enterica
strains associated with cattle at harvest in the United States were examined. Hides and carcasses of cattle were sampled at processing plants (
n
= 6) located in four geographically distant regions from July 2005 to April 2006. The mean prevalences of
Salmonella
on hides, preevisceration carcasses (immediately after hide removal), and postintervention carcasses (in the chiller and after the full complement of interventions) were 89.6%, 50.2%, and 0.8%, respectively. The values for MDR
Salmonella enterica
strains (defined as those resistant to two or more antimicrobials) as percentages of
Salmonella
prevalence were 16.7% (95% confidence interval [CI], 8.3 to 25.1%; median percent prevalence, 6.9%), 11.7% (95% CI, 4.4 to 19.0%; median, 4.8%), and 0.33% (95% CI, −0.3 to 0.70%; median, 0%), respectively. In this study, 16,218
Salmonella
hide and carcass isolates were screened for antimicrobial resistance. Of these, 978 (6.0%) unique MDR
S. enterica
isolates were identified and serotyped and their XbaI pulsed-field gel electrophoresis (PFGE) profiles determined. The predominant MDR
S. enterica
serotypes observed were Newport (53.1%), Typhimurium (16.6%), and Uganda (10.9%). Differences in MDR
S. enterica
prevalence were detected, and PFGE analysis revealed both epidemic clusters (profiles found in plants in multiple regions/seasons) and endemic clusters (profiles observed in plants in limited regions/seasons) within several of the MDR serotypes examined. Despite these differences, multiple-hurdle processing interventions employed at all plants were found to be quite effective and decreased
Salmonella
carcass contamination by 98.4% (95% CI, 97.6 to 99.7%).