bluuebunny/crossref_metadata_2025_split huggingface dataset:
Development of Population-Based Newborn Screening for Severe Combined Immunodeficiency
Authors: Bonilla Francisco A. 
Published: September 2006

Purpose of the Study.
To evaluate analysis of T-cell development as a potential population-screening method for severe combined immunodeficiency (SCID).

Study Population.
Twenty-three infants with SCID, 2 patients without SCID, 245 randomly selected infants, and several healthy adults.

Methods.
DNA was extracted from dried blood spots on standard newborn screening (Guthrie) cards. The DNA was subjected to polymerase chain reaction (PCR) to amplify and quantitate the number of T-cell receptor excision circles (TRECs), a marker of T-cell development in the thymus. For comparison, the β-actin gene was also amplified by PCR.

Results.
None of the SCID patients’ blood spots contained detectable TRECs, whereas the infants without SCID had normal TRECs. Healthy adults had normal TRECs, and intentional depletion of T cells led to the disappearance of TRECs in simulated blood spots. Approximately 3% of randomly collected blood spots did not contain measurable TRECs but did contain β-actin.

Conclusions.
Measurement of TRECs by PCR can accurately identify infants with SCID. The relatively high percentage (3%) of screened spots having the SCID profile indicates the need for further refinement of the method before a larger population study.

Reviewer Comments.
Newborn screening for SCID is desirable because of the rapidly fatal nature of this disease and because of the good outcomes that may be obtained with the earliest possible diagnosis. The minimum estimate of the incidence of SCID is &gt;1 per 100 000 births, comparable to other diseases that are already part of newborn screening programs. Almost all patients with SCID lack detectable TRECs. The ability to accurately measure them in dried blood spots represents a tremendous advance toward the possibility of effective newborn screening for this genetically very heterogeneous group of disorders. If the specificity of the analysis can be improved, this may soon be implemented in newborn screening programs.
Long-term Treatment of Atopic Dermatitis With Pimecrolimus Cream 1% in Infants Does Not Interfere With the Development of Protective Antibodies After Vaccination
Authors: Spergel Jonathan M. 
Published: September 2006

Purpose of the Study.
To examine if pimecrolimus 1% cream in the treatment of atopic dermatitis would have any effect on vaccinations.

Study Population.
A total of 91 children with mild-to-severe atopic dermatitis (AD), aged 3 to 23 months at enrollment.

Methods.
Children were enrolled in a 1-year double-blind study (76 children received pimecrolimus, and 15 children received placebo). All 91 children were enrolled in a 1-year open-label extension study of pimecrolimus 1% cream. Patients were treated with either pimecrolimus 1% cream or placebo for initial symptoms, and more potent topical corticosteroids were used for flares not prevented by pimecrolimus 1% cream. Patients were vaccinated at normal scheduled times (4 doses of tetanus and diphtheria and 1 or 2 doses of measles and rubella). Response was evaluated at months 18 and 24 of the 2-year period.

Results.
The seropositivity rates of 93.6% for tetanus, 88.6% for diphtheria, 88.5% for measles, and 84.4% for rubella were comparable with those reported in the literature. Seropositivity was not significantly affected by the use of pimecrolimus at the time of vaccinations (±28 days). These seropositivity rates were within the ranges of 87% to 100% for tetanus, 83.3% to 99.3 for diphtheria, 60.5% to 97.1% for measles, and 55.6% to 88.1% for rubella, similar to those reported in age-matched pediatric populations.

Conclusion.
Topical pimecrolimus in the treatment of atopic dermatitis had no effect on the response to routine childhood vaccination.

Reviewer Comments.
Topical pimecrolimus, similar to topical tacrolimus (J Am Acad Dermatol. 2005;53[2 suppl 2]:S206–S213), had no effect on routine childhood vaccination. These topical calcineurin inhibitors did not affect basic B-cell function as measured by postvaccination titers.
Clinical Use of Noninvasive Measurements of Airway Inflammation in Steroid Reduction in Children
Authors: Perry Tamara T. 
Published: September 2006

Purpose of the Study.
To examine the clinical utility of noninvasive measures of airway inflammation as predictors for successful inhaled corticosteroid (ICS) dose reduction in children with asthma.

Study Population.
Forty children (aged 6–17 years) with stable asthma on a constant ICS dose and eligible for steroid dose reduction.

Methods.
Children were followed prospectively every 8 weeks with noninvasive measures of airway inflammation including exhaled nitric oxide (eNO), sputum induction with bronchial hyperreactivity testing, and exhaled breath condensate. Physicians who were unaware of the results of inflammatory measures made reductions in the steroid dose on the basis of clinical assessment and spirometry. Multiple logistic-regression models were used to determine the usefulness of noninvasive inflammatory markers in predicting successful steroid reduction.

Results.
Seventy-five percent of patients tolerated a reduction in steroid dose for at least 2 months; however, 15 (38%) of the 40 patients’ conditions subsequently failed ICS dose reduction and experienced an asthma exacerbation. All children with absence of sputum eosinophils successfully tolerated dose reduction. Increased eNO ≥22 ppb (odds ratio: 6.3; 95% confidence interval: 3.75–10.58) and increased sputum eosinophils ≥3% (odds ratio: 1.38; 95% confidence interval: 1.06–1.81) were significant predictors of failed ICS dose reduction.

Conclusions.
Noninvasive measures of airway inflammation may be useful tools in optimizing treatment of children with asthma.

Reviewer Comments.
These findings suggest that noninvasive measures of airway inflammation are potential adjunctive tools that can be used in pediatric patients who appear clinically stable. However, their clinical usefulness may be limited by several factors. Sputum induction was not successfully performed in 25% of the children, and some measures including bronchial hyperreactivity and breath condensate did not prove to be useful predictors in this study. In addition, criteria for predicting failure were met in 6 (21%) of 28 and 19 (39%) of 49 occasions for sputum eosinophil and eNO cutoffs, respectively, when the child was successfully weaned on the basis of clinical judgment. Conversely, use of noninvasive markers would have prevented an attempt to wean steroids on &gt;70% of occasions when patients subsequently experienced an exacerbation. Inflammatory markers as sole predictors of success or failure will likely result in both significant undertreatment and overtreatment with ICSs. Treatment algorithms that include noninvasive airway inflammatory markers in conjunction with clinical markers are likely the best approach to optimize therapy in children who appear clinically stable.
Mixing simulation of a viscous Newtonian liquid in a twin sigma blade mixer
Authors: Connelly Robin K. , Kokini Jozef L. 
Published: September 2006

AbstractThe flow of a viscous Newtonian fluid in a twin sigma blade mixer over the course of a blade cycle is simulated using FEM with mesh superposition, and the resulting velocity profiles are used to calculate the paths of material points in order to do an analysis of the distributive mixing and overall efficiency of the mixer over time. Visual inspection of the material‐point distribution, as well as mixing measures that include the cluster distribution index, scale of segregation and mean length of stretch showed the overall mixing effectiveness of this mixer, although there was some positions that had better distributive and stretch capability than others. The mean time‐averaged efficiency was related to the specific blade positions and found to remain above zero, while its standard deviation was reducing over time, indicating that the majority of the material points were experiencing equivalent levels of stretching over time. © 2006 American Institute of Chemical Engineers AIChE J, 2006
Retinoblastoma‐related geneRb2/p130 are rarely mutated in Burkitt's lymphoma from Brazil
Authors: Klumb C.E. , Magluta E.P.S. , Rezende L.M.M. , Apa A.G. , Alonso J.F.S. , Maia R.C. 
Published: September 2006

AbstractIt has been suggested that alterations of cell cycle genes probably contribute to the pathogenesis of endemic Burkitt's lymphoma (BL) in addition to c‐MYC translocation. Mutations disrupting the normal nuclear localization signal of the retinoblastoma‐related gene Rb2/p130 have been documented in BL cell lines and primary tumors from endemic areas. The aim of this study was to investigate the involvement of Rb2/p130 gene in the pathogenesis of sporadic BL in Brazil. DNA samples from 26 pediatric BL tumors and two healthy blood donors were screened by PCR amplification followed by single strand conformation polymorphism analysis of exons 19 and 20 (B domain) and exons 21 and 22 (C‐terminus), where most of the point mutations in the Rb2/p130 gene were identified. No abnormal band shifts were present in the samples analyzed. We concluded that mutations in exons 19–22 of the Rb2/p130 are unlikely to be involved directly in the pathogenesis of sporadic Brazilian BL. Am. J. Hematol., 2007. © 2006 Wiley‐Liss, Inc.
Molecular basis of human dentin diseases
Authors: MacDougall Mary , Dong Juan , Acevedo Ana Carolina 
Published: September 2006

AbstractIn recent years, substantial progress has been made regarding the molecular etiology of human structural tooth diseases that alter dentin matrix formation. These diseases have been classified into two major groups with subtypes: dentin dysplasia (DD) types I and II and dentinogenesis imperfecta (DGI) types I–III. Genetic linkage studies have identified the critical loci for DD‐II, DGI‐II, and DGI‐II to human chromosome 4q21. Located within the common disease loci for these diseases is cluster of dentin/bone genes that includes osteopontin (OPN), bone sialoprotein (BSP), matrix extracellular phosphoglycoprotein (MEPE), dentin matrix protein 1 (DMP1), and dentin sialophosphoprotein (DSPP). To date, only mutations within dentin sialophosphoprotein have been associated with the pathogenesis of dentin diseases including DGI types‐II and ‐III and DD‐II. In this article, we overview the recent literature related to these dentin genetic diseases, their clinical features, and molecular pathogenesis. © 2006 Wiley‐Liss, Inc.
Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness‐associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss
Authors: Young Wie‐Yen , Zhao Lidong , Qian Yaping , Li Ronghua , Chen Jing , Yuan Huijun , Dai Pu , Zhai Suoqiang , Han Dongyi , Guan Min‐Xin 
Published: September 2006

AbstractWe report here on the clinical, genetic, and molecular characterization of three Han Chinese pedigrees with aminoglycoside‐induced and nonsyndromic hearing loss. Clinical evaluation revealed the variable phenotype of hearing loss including severity, age‐at‐onset, audiometric configuration in these subjects. Penetrances of hearing loss in BJ107, BJ108, and BJ109 pedigrees are 35%, 63%, and 67%, respectively. Mutational analysis of the complete mitochondrial genomes in these pedigrees showed the identical homoplasmic A1555G mutation and distinct sets of mitochondrial DNA (mtDNA) variants belonging to haplogroups N, F, and M, respectively. Of these variants, the A14693G mutation in the tRNAGlu, the T15908C mutation in the tRNAThr, and the T10454C mutation in the tRNAArg are of special interest as these mutations occur at positions which are highly evolutionarily conserved nucleotides of corresponding tRNAs. These homoplasmic mtDNA mutations were absent among 156 unrelated Chinese controls. The A14693G and T10454C mutations occur at the highly conserved bases of the TψC‐loop of tRNAGlu and tRNAArg, respectively. Furthermore, the T15908C mutation in the tRNAThr disrupts a highly conserved A‐U base‐pairing at the D‐stem of this tRNA. The alteration of structure of these tRNAs by these mtDNA mutations may lead to a failure in tRNA metabolism, thereby causing impairment of mitochondrial translation. Thus, mitochondrial dysfunctions, caused by the A1555G mutation, would be worsened by these mtDNA mutations. Therefore, these mtDNA mutations may have a potential modifier role in increasing the penetrance and expressivity of the deafness‐associated 12S rRNA A1555G mutation in those Chinese pedigrees. © 2006 Wiley‐Liss, Inc.
Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness
Authors: Feigenbaum Annette , Bai Ren‐Kui , Doherty Emily S. , Kwon Haeyoung , Tan Duanjun , Sloane Avril , Cutz Ernest , Robinson Brian H. , Wong Lee‐Jun C. 
Published: September 2006

AbstractPatients with mitochondrial disease usually manifest multisystemic dysfunction with a broad clinical spectrum. When the tests for common mitochondrial DNA (mtDNA) point mutations are negative and the mtDNA defects are still hypothesized, it is necessary to screen the entire mitochondrial genome for unknown mutations in order to confirm the diagnosis. We report an 8‐year‐old girl who had a long history of ragged‐red fiber myopathy, short stature, and deafness, who ultimately developed renal failure and fatal cardiac dysfunction. Respiratory chain enzyme analysis on muscle biopsy revealed deficiency in complexes I, II/III, and IV. Whole mitochondrial genome sequencing analysis was performed. Three novel changes: homoplasmic 15458T > C and 15519T > C in cytochrome b, and a near homoplasmic 5783G > A in tRNAcys, were found in the proband in various tissues. Her mother and asymptomatic sibling also carry the two homoplasmic mutations and the heteroplasmic 5783G > A mutation in blood, hair follicles, and buccal cells, at lower percentage. The 5783G > A mutation occurs at the T arm of tRNAcys, resulting in the disruption of the stem structure, which may reduce the stability of the tRNA. 15458T > C changes an amino acid serine to proline at a conserved α‐helix, which may force the helix to bend. These two mutations may have pathogenic significance. This case emphasizes the importance of pursuing more extensive mutational analysis of mtDNA in the absence of common mtDNA point mutations or large deletions, when there is a high suspicion of a mitochondrial disorder. © 2006 Wiley‐Liss, Inc.
Die supramolekulare Chemie organisch‐anorganischer Hybrid‐Nanomaterialien
Authors: Descalzo Ana B. , Martínez‐Máñez Ramón , Sancenón Félix , Hoffmann Katrin , Rurack Knut 
Published: September 2006

AbstractDie Entwicklung von Hybridmaterialien mit stark verbesserten Funktionen gelingt durch die Kombination geeigneter Nanomaterialien als Träger mit Motiven aus der supramolekularen Chemie. Diese “hetero‐supramolekularen” Konzepte bieten vielfältige Möglichkeiten, die Lücken zwischen der Molekülchemie, Materialwissenschaften und Nanotechnologie zu schließen. Im Hinblick auf funktionelle Aspekte wurden in jüngster Zeit wichtige Fortschritte erzielt, z. B. verbesserte Erkennungs‐ und Sensoreigenschaften durch die Anordnung von Molekülen auf vororganisierten Oberflächen, der reversible Aufbau von nanometergroßen Netzwerken und dreidimensionalen Strukturen oder biomimetische und gesteuerte chemische Prozesse in Hybrid‐Nanomaterialien, die als Grundlage für hoch spezialisierte Protokolle in dreidimensionalen Gerüststrukturen dienen können. Diese Ansätze ermöglichen eine Feinabstimmung der Eigenschaften von Nanomaterialien und eröffnen neue Perspektiven für die Anwendung supramolekularer Konzepte.
Photo‐induced iron‐catalyzed allylic amination of unfunctionalized olefins with nitroarenes
Authors: Srivastava Radhey S. 
Published: September 2006

AbstractPhotochemical reactions between unfuctionalized olefins and nitroarenes under CO pressure, catalyzed by [Cp*Fe(CO)2]2, form the corresponding allyl amines. The use of mechanistic probes containing 2‐nitrobiphenyl, 2,3‐dimethylbutadiene and pentafluoronitrobenzene suggest that neither aryl nitrene nor nitrosoarene is the active aminating agent in these transformations. Copyright © 2006 John Wiley & Sons, Ltd.
NMR Spectroscopic Observation of a Metal‐Free Acetylide Anion
Authors: Tanaka Yoshiyuki , Arakawa Makoto , Yamaguchi Yohei , Hori Chieko , Ueno Masahiro , Tanaka Takeyuki , Imahori Tatsushi , Kondo Yoshinori 
Published: September 2006

AbstractA metal‐free acetylide was observed by using NMR spectroscopy. Metal‐free acetylides are closely related to reactive intermediates (carbanions) in solution; therefore, they have been regarded as unobservable species. However, we generated this highly reactive and unstable species through the deprotonation of phenylacetylene by using the strong nonmetallic phosphazene base tBu‐P4. In the presence of tBu‐P4, the J coupling between the ethynyl carbon and hydrogen nuclei (1JC,H) of phenylacetylene disappeared; this indicates the deprotonation of the alkyne terminal. Furthermore, a large low‐field shift (approximately 90 ppm) of the alkyne carbon resonance was observed. We concluded that we have observed a metal‐free carbanion with a formal charge on an sp‐hybridized carbon atom for the first time.
Microwave‐Assisted Synthesis of a Superparamagnetic Surface‐Functionalized Porous Fe3O4/C Nanocomposite
Authors: Hu Xianluo , Yu Jimmy C. 
Published: September 2006

AbstractAn Fe3O4/C nanocomposite was synthesized in a microwave‐assisted hydrothermal reaction. This green wet‐chemical approach is simple, low‐cost, and ideal for large‐scale production. The resulting composite material was characterized by transmission electron microscopy, powder X‐ray diffraction, energy‐dispersive X‐ray spectroscopy, Brunauer–Emmett–Teller analysis, X‐ray photoelectron spectroscopy, vibrating sample magnetometry, and UV/Vis spectroscopy. The product possesses porous structures and exhibits superparamagnetic behavior. Interestingly, its functional groups were inherited from the starting materials. This hydrophilic and biocompatible nanocomposite may find applications in catalysis, separation, adsorption, and bionanotechnology.
Pharmacogenomics of cancer chemopreventive isothiocyanate compound sulforaphane in the intestinal polyps of ApcMin/+ mice
Authors: Khor Tin Oo , Hu Rong , Shen Guoxiang , Jeong Woo‐Sik , Hebbar Vidya , Chen Chi , Xu Changjiang , Nair Sujit , Reddy Bandaru , Chada Kiran , Kong Ah‐Ng Tony 
Published: September 2006

AbstractSulforaphane (SFN) is an isothiocyanate that is present in widely consumed vegetables. Previous studies have shown that SFN is effective in preventing carcinogenesis induced by carcinogens in rodents. Recently it was found that SFN could also suppress the growth of intestinal polyps in the ApcMin/+ mouse. In the present study, the acute effect of SFN on the gene expression profile in small intestinal polyps of ApcMin/+ mice using Affymetrix microarray was performed. SFN is a strong inducer for phase II drug metabolizing enzymes, which is believed to contribute to its chemopreventive properties. However, the results show that genes involved in apoptosis, cell growth and maintenance rather than the predicted phase II genes were modulated. The proapoptotic genes including MBD4, TNFR‐7 and TNF (ligand)‐11 were up‐regulated while pro‐survival genes including cyclin‐D2, integrin‐β1 and Wnt‐9A were down‐regulated. Interestingly, two genes potentially involved in colorectal carcinogenesis, 15‐LOX and COX‐2 were found to be increased and decreased, respectively. In conclusion, the results show, for the first time, that chemopreventive agents such as SFN regulate different set of genes involving apoptosis, cell growth/maintenance and inflammation in the small intestinal polyps of ApcMin/+ mice, which could contribute to the overall chemopreventive pharmacological effects. Copyright © 2006 John Wiley & Sons, Ltd.
Maternal severe migraine and risk of congenital limb deficiencies
Authors: Bánhidy Ferenc , Ács Nándor , Horváth‐Puhó Erzsébet , Czeizel Andrew E. 
Published: September 2006

AbstractBACKGROUND:Migraines occurs frequently during pregnancy; however, there are no published data on their possible teratogenic potential in a controlled epidemiological study. Therefore, we examined the risk of congenital abnormalities in infants born to women who had migraines and other headaches during pregnancy.METHODS:Between 1980 and 1996, the Hungarian Case‐Control Surveillance of Congenital Abnormalities evaluated 22,843 cases (newborns or fetuses) with congenital abnormalities, 38,151 control newborn infants without any abnormalities, and 834 malformed controls with Down syndrome.RESULTS:Migraines anytime during pregnancy occurred in 565 (2.5%) mothers of the case group compared with 713 (1.9%) mothers in the control group (crude prevalence odds ratio [POR], 1.3; 95% confidence interval [CI], 1.2–1.5) and 24 (2.9%) pregnant women in the malformed control group (crude POR, 0.9; 95% CI, 0.6–1.3) The mothers of 247 cases, 533 controls, and 21 malformed controls had severe migraines during the second and/or third months of pregnancy. There was only 1 congenital abnormality group: limb deficiencies, which had a higher rate of maternal migraines during the second and third months of pregnancy both at the comparison of cases and matched controls (adjusted POR, 2.5; 95% CI, 1.1–5.8) and of cases and malformed controls (adjusted POR, 1.7; 95% CI, 1.3–3.0). There was no association between other headaches and different congenital abnormalities at the comparison of cases and controls.CONCLUSIONS:Our data showed that maternal severe migraines during the second and/or third months of pregnancy were associated with an increased risk of congenital limb deficiencies. A similar association was not detected between congenital anomalies and other headaches during pregnancy. Our study was not based on a prior hypothesis; therefore, these data can be considered only as a signal that needs confirmation by independent data sets. Birth Defects Research (Part A), 2006. © 2006 Wiley‐Liss, Inc.
Quality and content of abstracts in papers reporting about drug exposures during pregnancy
Authors: Einarson Thomas R. , Lee Crystal , Smith Ryan , Manley Jennifer , Perstin Julia , Loniewska Margaret , Zahedi Payam , Abu‐Ghazalah Rashid , Einarson Adrienne 
Published: September 2006

AbstractBACKGROUND:Most clinicians read only the abstract of papers in scientific journals. Therefore, it is very important that abstracts contain as much information as possible, to summarize the data succinctly. Our objectives were to evaluate the quality of information in abstracts reporting human fetal outcomes following drug exposure during pregnancy.METHODS:We developed quality criteria based on previous work, modifying them for use with pregnancy outcomes. Quality scores were calculated as present/absent for all of the equally weighted criteria, then expressed as percentages (present/[present + absent]). We examined a random sample of 100 abstracts obtained through searches of MEDLINE, EMBASE, and the Web of Science databases from 1990 to 2005. Average quality scores were compared across designs (cohort, case‐control, meta‐analysis, and mixed design) Using Kruskal‐Wallis ANOVA and structured/unstructured formats using Student's t test.RESULTS:the overall average quality was 59.2% ± 14% (median, 61.5%; range, 15.4–83.3%). Quality was not significantly different across designs (P = .16) or between structured and unstructured abstracts (P = .44). Quality scores increased over time (Rho = 0.23, P = .02). Most frequently absent were baseline risk (94%), drug dose (91%), nonsignificant P values (72%), confounders (69%), significant P values (57%), and risk difference (48%).CONCLUSIONS:Abstracts provide insufficient information, particularly baseline risk values, for readers to make evidence‐based decisions regarding drug use during pregnancy. Efforts need to be made to improve the quality of abstracts and include critical information such as baseline risk. Birth Defects Research (Part A), 2006. © 2006 Wiley‐Liss, Inc.