bluuebunny/crossref_metadata_2025_split huggingface dataset:
A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non‐pathogenic euchromatic variant
Authors: Roos Andreas , Elbracht Miriam , Baudis Michael , Senderek Jan , Schönherr Nadine , Eggermann Thomas , Schüler Herdit M. 
Published: August 2008

AbstractChromosome 13 deletions are associated with widely varying phenotypes but the clinical picture nearly almost includes mental and growth retardation, craniofacial dysmorphisms, and/or malformations. Several attempts have been made to link monosomy 13q intervals with specific clinical features, but a genotype–phenotype correlation could not be delineated. We report on a woman with a normal phenotype and intelligence referred for chromosomal analysis because of recurrent abortions followed by reproductive loss. Conventional karyotyping revealed an interstitial deletion of chromosome 13q21. By SNP array analysis and FISH the deletion was shown to comprise nearly 10.7 Mb of euchromatic material. This region harbors several genes but an association with recurrent miscarriages has not yet been reported. This is the second report of a 13q21 deletion without psychomotoric retardation, dysmorphisms and malformations. Both cases indicate that this 13q21 deletion can be added to the growing list of euchromatic imbalances without obvious phenotypic abnormalities. © 2008 Wiley‐Liss, Inc.
Living with a child at risk for psychotic illness: The experience of parents coping with 22q11 deletion syndrome: An exploratory study
Authors: Hercher Laura , Bruenner Georgette 
Published: August 2008

AbstractPatients with 22q11 deletion syndrome (22q11DS) have a 25–30% risk of developing schizophrenia, as well as an increased risk for other psychiatric illnesses including bipolar and schizo‐affective disease. As a result, their families may be informed of a risk for psychotic illness years or even decades before the likely age of onset. We performed an exploratory study, surveying 41 caretakers of individuals with 22q11DS, and found that information about the association between 22q11DS and psychiatric disease was omitted at diagnosis a majority of the time and rarely addressed subsequently by pediatricians or other medical specialists, including medical geneticists. Families frequently received their information only from non‐medical sources, principally the Internet. Individuals with 22q11DS often have many medical issues, but a majority of parents indicated that the risk of psychotic illness was their greatest source of anxiety. Looking at how predictive information affects those who receive it is an important adjunct to the development of genetic testing; the experience of these families suggests that in order to use the information to improve outcomes or modify risk it is necessary to receive it in the context of ongoing support and access to resources. © 2008 Wiley‐Liss, Inc.
Application of metaphase HR‐CGH and targeted chromosomal microarray analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features
Authors: Nowakowska B. , Stankiewicz P. , Obersztyn E. , Ou Z. , Li J. , Chinault A.C. , Smyk M. , Borg K. , Mazurczak T. , Cheung S.W. , Bocian E. 
Published: August 2008

AbstractRecent advances in molecular cytogenetics enable identification of small chromosomal aberrations that are undetectable by routine chromosome banding in 5–20% of patients with mental retardation/developmental delay (MR/DD) and dysmorphism. The aim of this study was to compare the clinical usefulness of two molecular cytogenetic techniques, metaphase high‐resolution comparative genomic hybridization (HR‐CGH) and targeted array CGH, also known as Chromosomal Microarray Analysis (CMA). A total of 116 patients with unexplained mild to severe MR and other features suggestive of a chromosomal abnormality with apparently normal or balanced karyotypes were analyzed using HR‐CGH (43 patients) and/or CMA (91 patients). Metaphase HR‐CGH detected seven interstitial deletions (16.3%). Rare deletions of chromosomes 16 (16p11.2p12.1) and 8 (8q21.11q21.2) were identified. Targeted CMA revealed copy‐number changes in 19 of 91 patients (20.8%), among which 11 (11.8%) were clinically relevant, 6 (6.5%) were interpreted as polymorphic variants and 2 (2.1%) were of uncertain significance. The changes varied in size from 0.5 to 12.9 Mb. In summary, our results show that metaphase HR‐CGH and array CGH techniques have become important components in cytogenetic diagnostics, particularly for detecting cryptic constitutional chromosome imbalances in patients with MR, in whom the underlying genetic defect is unknown. Additionally, application of both methods together increased the detection rates of genomic imbalances in the tested groups. © 2008 Wiley‐Liss, Inc.
Extended follow‐up of the Finnish cartilage‐hair hypoplasia cohort confirms high incidence of non‐Hodgkin lymphoma and basal cell carcinoma
Authors: Taskinen Mervi , Ranki Annamari , Pukkala Eero , Jeskanen Leila , Kaitila Ilkka , Mäkitie Outi 
Published: August 2008

AbstractCartilage‐hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia with short stature, sparse hair and defective cell‐mediated immunity. It is caused by mutations in the RMRP (ribonuclease mitochondrial RNA processing) gene, encoding the RNA component of the ribonuclease complex RNase MRP. The aim of this study was to further elucidate the risk and spectrum of cancer in CHH. A cohort of 123 Finnish patients with CHH (51 males) was followed for malignancy through the Finnish Cancer Registry. The number of identified cancers was compared with expected numbers of cancer using population‐based data to obtain standardized incidence ratios (SIR). Hospital records were reviewed for clinical data related to the malignancies. During the follow‐up (2,365 person‐years; mean 19.2 years), 14 cases of cancer were diagnosed in the CHH cohort (expected number 2.0; SIR 7.0, CI 3.8–12). Non‐Hodgkin lymphoma was the most frequent cancer type (n = 9; SIR 90.2, CI 39.0–180) followed by squamous cell carcinoma (3), leukemia (1) and Hodgkin lymphoma (1). One tumor was not histologically classified. Nine of the 14 cancers were diagnosed in patients less than 45 years of age. In addition, ten patients had basal cell carcinoma of the skin (expected number 0.3; SIR 33.2, CI 16–61). Patients with CHH have significantly increased risk for developing non‐Hodgkin lymphoma or basal cell carcinoma at early age; the overall prognosis is poor. The underlying pathogenetic mechanisms remain to be elucidated in future studies. Careful follow‐up, extending beyond pediatric age, is warranted for early diagnosis of malignancies. © 2008 Wiley‐Liss, Inc.
The population‐based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US
Authors: Waller D.K. , Correa A. , Vo Tuan M. , Wang Y. , Hobbs C. , Langlois P.H. , Pearson K. , Romitti P.A. , Shaw G.M. , Hecht J.T. 
Published: August 2008

AbstractThere have been no large population‐based studies of the prevalence of achondroplasia and thanatophroic dysplasia in the United States. This study compared data from seven population‐based birth defects monitoring programs in the United States. We also present data on the association between older paternal age and these birth defects, which has been described in earlier studies. The prevalence of achondroplasia ranged from 0.36 to 0.60 per 10,000 livebirths (1/27,780–1/16,670 livebirths). The prevalence of thanatophoric dysplasia ranged from 0.21 to 0.30 per 10,000 livebirths (1/33,330–1/47,620 livebirths). In Texas, fathers that were 25–29, 30–34, 35–39, and ≥40 years of age had significantly increased rates of de novo achondroplasia among their offspring compared with younger fathers. The adjusted prevalence odds ratios were 2.8 (95% CI; 1.2, 6.7), 2.8 (95% CI; 1.0, 7.6), 4.9 (95% CI; 1.7, 14.3), and 5.0 (95% CI; 1.5, 16.1), respectively. Using the same age categories, the crude prevalence odds ratios for de novo cases of thanatophoric dysplasia in Texas were 5.8 (95% CI; 1.7, 9.8), 3.9 (95% CI; 1.1, 6.7), 6.1 (95% CI; 1.6, 10.6), and 10.2 (95% CI; 2.6, 17.8), respectively. These data suggest that thanatophoric dysplasia is one‐third to one‐half as frequent as achondroplasia. The differences in the prevalence of these conditions across monitoring programs were consistent with random fluctuation. Birth defects monitoring programs may be a good source of ascertainment for population‐based studies of achondroplasia and thanatophoric dysplasia, provided that diagnoses are confirmed by review of medical records. © 2008 Wiley‐Liss, Inc.
Choanal atresia associated with maternal hyperthyroidism treated with methimazole: A case–control study
Authors: Barbero Pablo , Valdez Rita , Rodríguez Hugo , Tiscornia Carlos , Mansilla Enrique , Allons Adriana , Coll Silvia , Liascovich Rosa 
Published: August 2008

AbstractThyrotoxicosis affects 0.2% of pregnant women and antithyroid drugs are the treatment of choice during pregnancy. Several case reports have suggested a relationship between the prenatal use of methimazole (MMI) and choanal atresia in the offspring. However, two epidemiological studies did not find an increased teratogenic risk for MMI. This multicenter case–control study compared the frequency of maternal hyperthyroidism treated with MMI during pregnancy, in children with choanal atresia (cases) and a control group randomly selected (three matched controls according to maternal age for each case). Mothers of cases (N = 61) and controls (N = 183) were interviewed for socio‐demographic questions, obstetrical and genetic history, and exposure during pregnancy to different agents; specifically detailed information regarding hyperthyroidism and MMI intake was obtained. Prenatal exposure to maternal hyperthyroidism treated with MMI was identified in 10/61 cases (16.4%) compared to 2/183 (1.1%) in the control group (OR = 17.75; CI95% = 3.49–121.40). Cases and controls did not differ in their parental degree of education, paternal occupation, twinning, maternal parity, and other exposures during pregnancy. Facial features in exposed cases showed some similarities. Our data suggest that prenatal exposure to maternal hyperthyroidism treated with MMI is associated with choanal atresia. In addition, based on our cases and a critical literature review, we propose that the mother's disease might be the causal factor and not the MMI treatment. © 2008 Wiley‐Liss, Inc.
Mechanical properties of green composites with polycaprolactone and wheat gluten
Authors: Finkenstadt V. L. , Mohamed A. A. , Biresaw G. , Willett J. L. 
Published: August 2008

AbstractWheat gluten (WG) was incorporated into polycaprolactone (PCL) (up to 50% w/w) as a filler to form a biodegradable polymer composite. A microscopic examination showed a well‐dispersed particle–matrix system. The composite was evaluated for its tensile properties. The tensile strength of the composite decreased linearly with increasing WG content from 20 (0% WG) to 6 MPa (50% WG). However, the reduction of the tensile strength did not fit the Nicolais–Narkis model, and this indicated that some adhesion between WG and PCL occurred. High elongation (>900%) was observed in PCL–WG composites with up to 20% WG; it decreased to 400% with 35% WG and finally to less than 100% with 40–50% WG. There was a particle‐induced transition at a calculated critical volume of 0.3 corresponding to 30% WG by weight with respect to PCL. © 2008 Wiley Periodicals, Inc. JAppl Polym Sci, 2008
Tree thinking for all biology: the problem with reading phylogenies as ladders of progress
Authors: Omland Kevin E. , Cook Lyn G. , Crisp Michael D. 
Published: August 2008

AbstractPhylogenies are increasingly prominent across all of biology, especially as DNA sequencing makes more and more trees available. However, their utility is compromised by widespread misconceptions about what phylogenies can tell us, and improved “tree thinking” is crucial. The most‐serious problem comes from reading trees as ladders from “left to right”—many biologists assume that species‐poor lineages that appear “early branching” or “basal” are ancestral—we call this the “primitive lineage fallacy”. This mistake causes misleading inferences about changes in individual characteristics and leads to misrepresentation of the evolutionary process. The problem can be rectified by considering that modern phylogenies of present‐day species and genes show relationships among evolutionary cousins. Emphasizing that these are extant entities in the 21st century will help correct inferences about ancestral characteristics, and will enable us to leave behind 19th century notions about the ladder of progress driving evolution. BioEssays 30:854–867, 2008. © 2008 Wiley Periodicals, Inc.
The birth of therapy with cultured cells
Authors: Green Howard 
Published: August 2008

AbstractLong ago, I set out to solve a problem, but something happened along the way: I was diverted by an unexpected observation. Thereafter, the direction of my research was guided at each stage by increasing familiarity with the experimental material and what could be done with it. The result was the birth of therapy with cultured keratinocytes. Subsequent developments soon led to the formation of the company Biosurface Technology (later taken over by the Genzyme Corporation), which provided autologous cultures for burn victims in many parts of the world. Further progress by others led to new therapeutic applications of cultured keratinocytes, such as treatment of an ocular disease and gene therapy. Unfortunately, there have developed serious regulatory problems that are a danger to future progress. As described in this brief history, the initial stages of development of cell therapy for the treatment of human disease were possible only because there was no restraint by committees or governmental regulations. BioEssays 30:897–903, 2008. © 2008 Wiley Periodicals, Inc.
Imaging new neurons in vivo: a pioneering tool to study the cellular biology of depression?
Authors: Römer Benedikt , Sartorius Alexander , Inta Dragos , Vollmayr Barbara , Gass Peter 
Published: August 2008

AbstractHippocampal neurogenesis has been implicated in the pathogenesis of and recovery from depression. However, most of the underlying studies were endpoint investigations in experimental animals yielding conflicting results, and it has been under debate to which extent these results could be transferred to human patients. Now, researchers have developed a powerful new tool to address these questions by a non‐invasive method in humans and animals in vivo, using magnetic resonance spectroscopy to detect a biomarker for proliferating progenitor cells that give rise to new neurons.1 This makes it possible to study the role of neural progenitor cells in a wide variety of human brain disorders. BioEssays 30:806–810, 2008. © 2008 Wiley Periodicals, Inc.
Ecoimmunology: is there any room for the neuroendocrine system?
Authors: Ottaviani Enzo , Malagoli Davide , Capri Miriam , Franceschi Claudio 
Published: August 2008

AbstractEcological Immunology assumes that immunological defenses must be minimized in terms of cost (energy expenditure). To reach this goal, a complex and still largely unexplored strategy has evolved to assure survival. From invertebrates to vertebrates, an integrated immune–neuroendocrine response appears to be crucial for the hierarchical redistribution of resources within the body according to the specific ecological demands. Thus, on the basis of experimental data on the intimate relationship between stress and immune responses that has been maintained during evolution, we argue that a broader perspective based on the integration of immune and neuroendocrine responses should be adopted to describe the comprehensive strategy that the body utilizes to adapt to dynamic environmental conditions. We discuss the hypothesis that a bow‐tie architecture might be suitable to describe the variety of immune–neuroendocrine inputs that continuously target cells and organs while, at the same time, fulfilling the basic requirement of minimizing the cost of immune–neuroendocrine responses. Bow‐tie architectures are able to convert a variety of stimuli (fan in) into a wide range of fine‐tuned responses (fan out) by passing through the integrating activity of a core (knot) constituted by a limited number of elements. Finally, we argue that the ecologically negotiated immune–neuroendocrine strategies may have deleterious effects in the post‐reproductive period of life when, at least in humans, chronic, low‐grade, systemic inflammation develops, in accordance with the antagonistic pleiotropy theory of aging. BioEssays 30:868–874, 2008. © 2008 Wiley Periodicals, Inc.
The control of size in animals: insights from selector genes
Authors: Crickmore Michael A. , Mann Richard S. 
Published: August 2008

AbstractHow size is controlled during animal development remains a fascinating problem despite decades of research. Here we review key concepts in size biology and develop our thesis that much can be learned by studying how different organ sizes are differentially scaled by homeotic selector genes. A common theme from initial studies using this approach is that morphogen pathways are modified in numerous ways by selector genes to effect size control. We integrate these results with other pathways known to regulate organ size in developing a comprehensive model for organ size control. ©2007 Wiley Periodicals, Inc BioEssays 30:843–853, 2008. © 2008 Wiley Periodicals, Inc.
Nucleic acid‐mediated inflammatory diseases
Authors: Rigby Rachel E. , Leitch Andrea , Jackson Andrew P. 
Published: August 2008

AbstractEnzymes that degrade nucleic acids are emerging as important players in the pathogenesis of inflammatory disease. This is exemplified by the recent identification of four genes that cause the childhood inflammatory disorder, Aicardi‐Goutières syndrome (AGS). This is an autosomal recessive neurological condition whose clinical and immunological features parallel those of congenital viral infection. The four AGS genes encode two nucleases: TREX1 and the hetero‐trimeric Ribonuclease H2 (RNase H2) complex. The biochemical activity of these enzymes was initially characterised 30 years ago but a role in neurological inflammation was entirely unanticipated until they were found to be mutated in AGS. This has led to a hypothesis that accumulation of intracellular nucleic acids occurs as a consequence of mutation in these enzymes and triggers an inflammatory response through activation of innate immune pattern recognition receptors. ©2007 Wiley Periodicals, Inc BioEssays 30:833–842, 2008. © 2008 Wiley Periodicals, Inc.
Probing Kinase Activities by Electrochemistry, Contact‐Angle Measurements, and Molecular‐Force Interactions
Authors: Wilner Ofer I. , Guidotti Claudio , Wieckowska Agnieszka , Gill Ron , Willner Itamar 
Published: August 2008

AbstractThree different methods to investigate the activity of a protein kinase (casein kinase, CK2) are described. The phosphorylation of the sequence‐specific peptide (1) by CK2 was monitored by electrochemical impedance spectroscopy (EIS). Phosphorylation of the peptide monolayer assembled on a Au electrode yields a negatively charged surface that electrostatically repels the negatively charged redox label [Fe(CN)6]3−/4−, thus increasing the interfacial electron‐transfer resistance. The phosphorylation process by CK2 is further amplified by the association of the anti‐phosphorylated peptide antibody to the monolayer. Binding of the antibody insulates the electrode surface, thus increasing the interfacial electron‐transfer resistance in the presence of the redox label. This method enabled the quantitative analysis of the concentration of CK2 with a detection limit of ten units. The second method employed involved contact‐angle measurements. Although the peptide 1‐functionalized electrode revealed a contact angle of 67.5°, phosphorylation of the peptide yielded a surface with enhanced hydrophilicity, 36.8°. The biocatalyzed cleavage of the phosphate units with alkaline phosphatase regenerates the hydrophobic peptide monolayer, contact angle 55.3°. The third method to characterize the CK2 system involved chemical force measurements between the phosphorylated peptide monolayer associated with the Au surface and a Au tip functionalized with the anti‐phosphorylated peptide antibody. Although no significant rupture forces existed between the modified tip and the 1‐functionalized surface (6±2 pN), significant rupture forces (multiples of 120±20 pN) were observed between the phosphorylated monolayer‐modified surface and the antibody‐functionalized tip. This rupture force is attributed to the dissociation of a simple binding event between the phosphorylated peptide and the fluorescent antibody (Fab) binding region.
Electrochemically Controlled Formation/Dissociation of Phosphonate‐Cavitand/Methylpyridinium Complexes
Authors: Gadenne Benoît , Semeraro Monica , Yebeutchou Roger M. , Tancini Francesca , Pirondini Laura , Dalcanale Enrico , Credi Alberto 
Published: August 2008

AbstractThe phosphorus‐bridged cavitand 1 self‐assembles very efficiently in CH2Cl2 with either the monopyridinium guest 2+ or the bispyridinium guest 32+. In the first case a 1:1 complex is obtained, whereas in the second case both 1:1 and 2:1 host–guest complexes are observed. The association between 1 and either one of the guests causes the quenching of the cavitand fluorescence; in the case of the adduct between 1 and 32+, the fluorescence of the latter is also quenched. Cavitand complexation is found to affect the reduction potential values of the electroactive guests. Voltammetric and spectroelectrochemical measurements show that upon one‐electron reduction both guests are released from the cavity of 1. Owing to the chemical reversibility of such redox processes, the supramolecular complexes can be re‐assembled upon removal of the extra electron from the guest. Systems of this kind are promising for the construction of switchable nanoscale devices and self‐assembling supramolecular materials, the structure and properties of which can be reversibly controlled by electrochemical stimuli.
Intracellular Uptake and Photodynamic Activity of Water‐Soluble [60]‐ and [70]Fullerenes Incorporated in Liposomes
Authors: Doi Yuki , Ikeda Atsushi , Akiyama Motofusa , Nagano Mai , Shigematsu Tamami , Ogawa Takuya , Takeya Tatsuo , Nagasaki Takeshi 
Published: August 2008

AbstractWater‐soluble fullerenes have attracted attention as promising compounds that have been used to forge new paths in the field of photo‐biochemistry. To prepare water‐soluble fullerenes, we employed lipid‐membrane‐incorporated fullerenes (LMICx; x=60 or 70) by using the fullerene exchange method from a γ‐cyclodextrin (γ‐CD) cavity to vesicles. LMIC60 have low toxicity in the dark and engender cell death by photoirradiation (λ>350 nm). Furthermore, the photodynamic activity of LMIC70 is 4.7‐fold that of LMIC60 for the same photon flux (λ>400 nm). One of the reasons for the higher phototoxicity of LMIC70 is the higher generation of singlet oxygen (1O2) in LMIC70 than in LMIC60. The difference between LMIC60 and LMIC70 is considered to be simply derived from the amount of light absorption in the 400–700 nm region that is suitable for photodynamic therapy (PDT). To the best of our knowledge, this is the first case in which biological activity of C70 and its derivatives toward HeLa cells has been assayed.