bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency
Authors: Aeby A. , Sznajer Y. , Cavé H. , Rebuffat E. , Van Coster R. , Rigal O. , Van Bogaert P. 
Published: August 2007

SummaryThe cardiofaciocutaneous (CFC) syndrome is characterized by congenital heart defect, developmental delay, peculiar facial appearance with bitemporal constriction, prominent forehead, downslanting palpebral fissures, curly sparse hair and abnormalities of the skin. CFC syndrome phenotypically overlaps with Noonan and Costello syndromes. Mutations of several genes (PTPN11, HRAS, KRAS, BRAF, MEK1 and MEK2), involved in the mitogen‐activated protein kinase (MAPK) pathway, have been identified in CFC–Costello–Noonan patients. Coenzyme Q10 (CoQ10), a lipophilic molecule present in all cell membranes, functions as an electron carrier in the mitochondrial respiratory chain, where it transports electrons from complexes I and II to complex III. CoQ10 deficiency is a rare treatable mitochondrial disorder with various neurological (cerebellar ataxia, myopathy, epilepsy, mental retardation) and extraneurological (cardiomyopathy, nephropathy) signs that are responsive to CoQ10 supplementation. We report the case of a 4‐year‐old girl who presented a CFC syndrome, confirmed by the presence of a pathogenic R257Q BRAF gene mutation, together with a muscular CoQ10 deficiency. Her psychomotor development was severely impaired, hindered by muscular hypotonia and ataxia, both improving remarkably after CoQ10 treatment. This case suggests that there is a functional connection between the MAPK pathway and the mitochondria. This could be through the phosphorylation of a nuclear receptor essential for CoQ10 biosynthesis. Another hypothesis is that K‐Ras, one of the proteins composing the MAPK pathway, might be recruited into the mitochondria to promote apoptosis. This case highlights that CoQ10 might contribute to the pathogenesis of CFC syndrome.
The Influence of Cancer‐related Distress and Sense of Coherence on Anxiety and Depression in Patients with Hereditary Cancer
Authors: Siglen Elen , Bjorvatn Cathrine , Engebretsen Lars Fredrik , Berglund Gunilla , Natvig Gerd Karin 
Published: August 2007

AbstractThis study examines the association between Sense of Coherence and anxiety and depression amongst patients at risk of hereditary cancer receiving genetic counseling. When writing this article, 144 patients referred for genetic counseling due to a suspicion of hereditary cancer in the family were recruited for this multicentered longitudinal study on the psychosocial aspects of genetic counseling in Norway. A total of 96 (66%) patients responded to the follow‐up survey distributed 6 months after genetic counseling. This survey included the Sense of Coherence‐29 Scale, Impact of Event Scale, and Hospital Anxiety and Depression Scale. Multiple regression analyses were applied. Our results show association between cancer‐related distress and symptoms of anxiety and depression. Sense of Coherence is significantly associated with both anxiety and depression. The hypothesis of Sense of Coherence buffering cancer‐related distress and the possible impact of these findings for genetic counseling are discussed.
Assessment of Psychosocial Outcomes in Genetic Counseling Research: An Overview of Available Measurement Scales
Authors: Kasparian Nadine A. , Wakefield Claire E. , Meiser Bettina 
Published: August 2007

AbstractThe aim of the present paper was to describe and evaluate many of the measurement scales currently used in genetic counseling outcomes research. A team of three researchers reviewed the available literature and selected a variety of validated instruments suitable for measurement of genetic counseling outcomes. There are numerous scales to assess each of the following outcomes among counselees: satisfaction with genetic counseling; knowledge; decision‐making; psychological adjustment; coping; perceived personal control; perceptions of disease risk; and family communication about genetic risk. However, the strengths and limitations inherent to each instrument warrant careful consideration prior to implementation. In the genetic counseling context, scale selection should be undertaken with thought directed towards the characteristics of the research sample (e.g. levels of literacy, culture, medical condition), the practicalities of the research setting (e.g. available funding and resources, time restrictions, researcher expertise), the purpose of the research (i.e. the specific aspect of the genetic counseling experience to be studied), and the science underlying the scale (e.g. theoretical framework, psychometric properties).
Psychosocial Issues in Families Affected by Maple Syrup Urine Disease
Authors: Packman Wendy , Henderson Shelly L. , Mehta Indira , Ronen Rama , Danner Dean , Chesterman Beth , Packman Seymour 
Published: August 2007

AbstractThe primary aim of this study was to ascertain the psychosocial issues faced by families affected by maple syrup urine disease (MSUD). The psychosocial adjustment and quality of life of children with MSUD were also described. Participants included 55 families and their children (ages 5 to 18 years) and teachers. Measures included a MSUD Family Survey, the Behavior Assessment System for Children (BASC) and the Pediatric Quality of Life Inventory (PedsQL). Parents reported via the MSUD Family Survey that the greatest sources of stress were financial and emotional. Many parents reported difficulty interacting with the medical staff and with schools. On the BASC, half of the children fell within the average range in psychosocial adjustment, although there were elevations in scales measuring attention, hyperactivity, and learning problems. On the PedsQL, the mean quality of life scores were closer to children with cancer than to a healthy sample. Despite the emotional and financial burden, parents reported that MSUD has also had a positive influence on their lives, leading to a world‐view that is more compassionate and caring.
What I Wish I Knew Then…Reflections from Personal Experiences in Counseling about Down Syndrome
Authors: Brasington Campbell K. 
Published: August 2007

AbstractSharing the news about a newborn baby's diagnosis of Down syndrome with families is a scenario genetic counselors frequently face. Yet often we may feel uncomfortable or unsure how to best support families in this setting in a way that will foster competence and resilience. This commentary is a reflection of one genetic counselor's experiences in counseling about Down syndrome over the course of her career and how her thinking has transitioned from a medical based model of disability to a more individual and family‐focused model. Ideas and suggestions are offered that genetic counselors can incorporate into their practice.
A simple theism for a mixed world: response to Bradley
Authors: SWINBURNE RICHARD 
Published: August 2007

AbstractIn response to Michael Bradley, I summarize my account of the criteria by which the various data of natural theology increase the probability of theism and together make it probable. I explain the sense in which a simpler theory leaves less to be explained, justify my claim that God's perfect goodness is entailed by his other divine properties, and show that not merely is theism simpler than Bradley's ‘Epicurean hypothesis’, but that the ‘mixed’ data of natural theology are more to be expected given theism than given the ‘Epicurean hypothesis’.
THE MOON PYRAMID PROJECT AND THE TEOTIHUACAN STATE POLITY
Authors: Sugiyama Saburo , Cabrera Castro Rubén 
Published: August 2007

AbstractThe Moon Pyramid is the second largest monument at Teotihuacan and represents a key source of information regarding the state polity and its underlying ideology. It was little known archaeologically until now. Extensive excavations around the pyramid and tunnel operations within its nucleus have discovered an elaborate architectural sequence, including seven overlapping monumental constructions and five burial complexes of sacrificed individuals and sacred animals associated with rich offerings. The excavations in nearby structures and the three-dimensional mapping of the Moon Plaza complex provide valuable new data relevant to better understanding the ancient city, including its foundation and urbanization processes and the ideology of leadership that was materialized by successive monumental constructions.
THE SCRIBES WHO PAINTED THE MATRÍCULA DE TRIBUTOS AND THE CODEX MENDOZA
Authors: Rosado Juan José Batalla 
Published: August 2007

AbstractThis article presents an analysis of the tlacuiloque (scribes) who participated in the production of the Matrícula de Tributos and the Codex Mendoza. I show the relevance of palaeographic analysis for documents in which the writing system is logosyllabic or hieroglyphic and most of the information is iconographic. The Matrícula de Tributos is a pre-Columbian document that recorded the tribute paid to the Mexica empire by conquered towns. It was probably painted during the last decade of Moctezuma's II rulership, although some of its pages may have been produced earlier. Its production shows the work of at least six scribes. Its content was copied by a single artist around 1542 as the second part of the Codex Mendoza, a document created to be sent to the Spanish emperor. I provide evidence of the work of the six scribes in the pages preserved of the Matrícula. I also show that the scribe responsible for folios 6r–11v of the Matrícula painted the entire Codex Mendoza at least 20 years later. I demonstrate these interpretations through comparative analysis of some elements of the iconography and logosyllabic writing in the Matrícula and the Codex Mendoza.
THYROID HORMONE BINDING TO PUTATIVE NUCLEAR RECEPTORS IN HUMAN MONONUCLEAR BLOOD CELLS
Authors: Maberly GF , Eastman CJ , Smith HC , Waite K , Wilke TJ 
Published: August 2007

SummaryNuclear protein extracts from mononuclear cells in normal subjects, subjects with the clinical syndrome of thyroid hormone resistance and cultured B lymphocytes bound thyroxine (T4) (Ka; 1·3–3·5 × 109 m−1) and triiodothyronine (T3) (Ka; 1·2–3·9 × 109 m−1) with similar affinities. When an extra wash step was introduced, the maximum specific binding of T4 and T3 was reduced by 75% and binding was abolished by three washes. These data suggest binding is to a serum protein contaminant present in the mononuclear cell preparation.
HOST AGE DETERMINES THE EFFECTS OF HELMINTHIC PARASITE INFESTATION UPON EXPRESSION OF ALLERGIC REACTIVITY IN RATS
Authors: Turner KJ , Fisher EH , Holt PG 
Published: August 2007

SummaryComparisons were drawn between the effects of Nippostrongylus brasilensis infestation upon IgE synthesis and the in vivo expression of allergic reactions to ovalbumin OV) in weanling, juvenile and adult rats. Parameters examined included total and antigen (OV)‐specific IgE levels in serum and the relationship between serum levels of antigen‐specific IgE in individual parasitized rats and the magnitude of their subsequent reaction to intravenous or intradermal antigenic challenge. On the basis of parallel trials employing non‐infested age‐mulched controls, parasitized adult and juvenile animals manifested allergic reactivity to the full potential of their individual specific antibody levels. In contrast, the magnitude of allergic reactions in parasitized weanlings was markedly depressed below that expected from their IgE antibody scores. The most notable additional feature distinguishing parasitized weanling rats from infested animals of other ages was the presence in their serum of extremely high levels of ‘irrelevant’ IgE.
RESISTANCE OF ESTABLISHED ISLET ALLOGRAFTS TO REJECTION BY ANTIBODY AND COMPLEMENT
Authors: Agostino Michael , Prowse Stephen J , Lafferty Kevin J 
Published: August 2007

SummaryUsing preliminary in vitro culture in an oxygen‐rich atmosphere to facilitate survival of the graft, long term survival (> 100 days) of mouse pancreatic islet allografts was obtained subsequently in non‐immunosuppressed diabetic animals. When anti‐donor alloantiserum was transferred to these animals, the grafts were not rejected despite the fact that circulating cytotoxic antibody was demonstrated up to 7 days after injection of alloantiserum. Similarly, there was no graft rejection following the injection of anti‐donor alloantiserum and complement. These results show that cultured islet allografts are not susceptible to antibody and complement.
EFFECT OF DNA‐BINDING DRUGS ON THE ACTIVITY OF DNA METHYLASE FROM EHRLICH'S ASCITES TUMOUR CELLS
Authors: Tanaka M , Hibasami H , Nagai J , Ikeda T 
Published: August 2007

SummaryDNA methylase from Ehrlich's ascites tumour cells preferentially methylates DNA with high GC content. The methylase activity was not affected by the presence of the oligonucleotides, dCdG or dCdCdGdG, which are known to be part of the methyl‐acceptor sequence for mammalian DNA methylase. DNA from 5‐azacytidine‐treated ascites cells was a good methyl acceptor Actinomycin D, ethydium bromide and quinacrine inhibited the methylase activity. Distamycin A also inhibited the methylation of DNA from 5‐azacytidine‐treated ascites cells, but did not inhibit the methylation of (dG.dC)n. The inhibitory effect of all these drugs was overcome by increasing the DNA concentration. Non‐competitive type inhibition in regard to S‐adenosylmethionine was observed with all the DNA‐binding drugs.
NON‐SPECIFIC FACTORS CAN INDUCE s‐IgD ON THE INTERMEDIATE, “PRE‐PROGENITOR” B CELLS THAT GIVE ADOPTIVE PRIMARY RESPONSES
Authors: Shortman Ken , Wilson Anne , Baker Julie , Layton Judith 
Published: August 2007

SummaryThe intermediate or “pre‐progenitor” B‐cell subpopulation giving primary adoptive responses has been found by this laboratory to be s‐IgD−, whereas other laboratories have reported the progenitors of primary adoptive responses to be s‐IgD+. This difference appears to depend on the recent history of environmental stimuli received by the mice. Deliberate administration of a complex non‐specific stimulus, designed to mimic the effects of infection or certain types of experimental manipulation, shifted “pre‐progenitor” activity from the s‐IgD− compartment to the s‐IgD+ compartment within 24 h. Neither horse erythrocytes (HRC) nor lipopolysaccharide (LPS) alone produced a reproducible effect, but the combination of HRC with low doses of LPS produced a marked shift to s‐IgD+ activity. Some earlier experiments from this laboratory suggesting a striking effect with HRC alone probably resulted from suspension of HRC in saline contaminated by LPS‐like material. Priming with HRC alone, under conditions which did not induce s‐IgD, nevertheless stimulated the “pre‐progenitors” to enter cell cycle. Three conclusions are drawn: (1) The stimulus for induction of s‐IgD is not identical with the non‐specific stimulus which selectively induces cell division in this intermediate B‐cell subset; (2) the presence of IgD on the surface per se does not prevent the non‐specific activation of these cells into division; (3) the absence of s‐IgD is only a useful marker of the “pre‐progenitor” subset if the mice are maintained under specific pathogen‐free conditions and exogenous stimuli are controlled.
SKIN TESTS FOR COELIAC DISEASE EMPLOYING FRACTIONS OF A GLIADIN DIGEST
Authors: Cornell HJ , Burns E , Hill DJ 
Published: August 2007

SummaryGliadin sub‐fractions have been tested by intradermal injection in 19 adult patients with coeliac disease in remission and in 19 healthy adult controls. Fraction 3, obtained by SP Sephadex chromatography of a peptic‐tryptic digest of gliadin, produced strong reactions (areas of erythema greater than 1 cm2) in 13 of the patients.Weak or negative reactions to fraction 3 were produced in the remaining patients, including 2 patients who were currently on prednisolone therapy in addition to a gluten‐free diet. There was no correlation between time on a gluten‐free diet and severity of reaction in the patients not on prednisolone therapy. A strong reaction was observed with only one control and in the remaining controls all reactions were negative. Other fractions produced strong reactions in comparatively few patients. Skin tests using Fraction 3 could thus form part of the diagnosis for coeliac disease and could lead to a knowledge of the composition of the peptides which are important in the aetiology of this disease.
A MONOCLONAL ANTI‐IDIOTOPE ANTIBODY REACTING WITH A DETERMINANT OF THE CROSS‐REACTIVE IDIOTYPE ON ANTI‐p‐AZOBENZENEARSONATE ANTIBODIES OF A/J MICE
Authors: Morahan Grant 
Published: August 2007

SummaryA hybrid cell line, 14A1, was produced that secretes antibodies reading with a monoclonal A/J anti‐p‐azobenzenearsonate (ABA) antibody. 7.1.3, previously shown to have all of the determinants of the cross‐reactive idiotype (CRI) defined by rabbit anti‐idiotype sera. 14A1 was detected using a sensitive assay that is specific for antibodies against idiotypic, but not allotypic nor isotypic, determinants. This was confirmed by demonstrating that 14A1 antibodies bind 7.1.3 but not other A/J monoclonal antibodies of the same class or CRI− monoclonal anti‐ABA antibodies. The idiotypic determinant recognized by 14A1 is located at or near the hapten‐binding site of 7.1.3, as ABA‐conjugated tyrosine is capable of blocking this interaction. Rabbit anti‐CRI antibodies are prevented from binding to 7.1.3 by the addition of 14A1, demonstrating the spatial proximity of the 14A1 idiotope with determinant(s) of the CRI. All A/J anti‐ABA antibodies that have the 14A1 idiotope are also CRI−, while anti‐ABA antibodies from other strains of mice do not express this idiotope. Furthermore, antibodies from A/J mice immunologically suppressed for the CRI also fail to interact with 14A1 antibodies. These results have implications both for the nature of the CRI and for the regulation of the immune response by anti‐idiotype antibodies.
THE ISOLATION AND TRANSPLANTATION OF FOETAL MOUSE PROISLETS
Authors: Simeonovic Charmaine J , Lafffrty Kevin J 
Published: August 2007

SummaryA method is described for the isolation of ‘proislets’ from mouse foetal pancreas. Histologically, isolated proislets are composed of undifferentiated tissue which does not slain with aldehyde fuchsin. Following isotransplantation. proislets develop into well differentiated islets with β cell granulation. In addition, isografts consisting of proislets harvested from 8 foetal mouse pancreases have the functional capacity to reverse Streptozotocin‐induced diabetes. Proislets appear to represent foetal precursor islet tissue.
RABBIT ANTISERA TO CELL LINES RC2a AND U937: ANTIGENS EXPRESSED ON HUMAN LEUKAEMIC CELLS OF MYELOID, MONOCYTE AND T‐LYMPHOCYTE LINEAGE
Authors: Pilkington Glenn , Jacobs Diana , Mackenzie Susan , Bradley Ray , Hunter Steven , Jose David 
Published: August 2007

SummaryRabbit antisera have been produced to an acute myelomonocytic leukaemia (AMML)‐derived cell line (RC2a) and a histiocytic lymphoma derived cell line (U937) having macrophage characteristics. The antisera were screened by complement‐mediated cytotoxicity and immunofluorescence (cytofluorograph analysis) against separated leukaemic (122 patients plus 13 cell lines) and normal haematologic cell populations (60 preparations from 20 donors plus 10 B‐lymphoblastoid cell lines). The sera were absorbed with pooled B‐lymphoblastoid cell lines including the autologous B‐lymphoblastoid cell line to RC2a (CESS‐B) or alternatively with B‐CLL and T‐CLL cells. All leukaemic cell populations were confirmed using the markers SIg, E‐rosette receptor, cALL antigen, α‐naphthyl butyrate esterase and mydoperoxidase.Rabbit anti‐RC2a (Adherent cells) (RARC2a(Ad)) and rabbit anti‐U937 (RAU937) recognised antigens common to immature myeloid monocyte and T‐lymphocyte lineage but did not react by cytotoxicity, absorption or cytofluorographic analysis with cells of B‐lymphocyte lineage (B‐lymphoblastoid or B‐CLL) and reacted only occasionally with cALL patients' cells (includes pre B phenotype). These sera reacted with peripheral blood monocytes but not with other mature blood leucocytes. RAU937 reacted with a major mononuclear population from normal marrow and with more differentiated myeloid leukaemia cells. RARC2a(Ad) and RAU937 detected overlapping subgroups of myeloid leukaemia (AMoL, AMML, AML and CML) patients and Null‐ALL and T‐ALL patients. These subgroups are now being examined for prognostic significance.
The plateau outward current in canine ventricle, sensitive to 4‐aminopyridine, is a constitutive contributor to ventricular repolarization
Authors: Sridhar A , da Cunha D N Q , Lacombe V A , Zhou Q , Fox J J , Hamlin R L , Carnes C A 
Published: August 2007

Background and purpose:IKur (Ultra‐rapid delayed rectifier current) has μM sensitivity to 4‐aminopyridine (4‐AP) and is an important modulator of the plateau amplitude and action potential duration in canine atria. Kv1.5 encodes IKur and is present in both atria and ventricles in canines and humans. We hypothesized that a similar plateau outward current with μM sensitivity to 4‐AP is present in canine ventricle.Experimental approach:We used established voltage clamp protocols and used 4‐AP (50 and 100 μM) to measure a plateau outward current in normal canine myocytes isolated from the left ventricular mid‐myocardium.Key results:Action potential recordings in the presence of 4‐AP showed significant prolongation of action potential duration at 50 and 90% repolarization at 0.5 and 1 Hz (P<0.05), while no prolongation occurred at 2 Hz. Voltage clamp experiments revealed a rapidly activating current, similar to current characteristics of canine atrial IKur, in ∼70% of left ventricular myocytes. The IC50 of 4‐AP for this current was 24.2 μM. The concentration of 4‐AP used in our experiments resulted in selective blockade of an outward current that was not Ito or IKr. β‐Adrenergic stimulation with isoprenaline significantly increased the 4‐AP sensitive outward current density (P<0.05), suggesting a role for this current during increased sympathetic stimulation. In silico incorporation into a canine ventricular cell model revealed selective AP prolongation after current blockade.Conclusions and implications:Our results support the existence of a canine ventricular plateau outward current sensitive to micromolar 4‐AP and its constitutive role in ventricular repolarization.British Journal of Pharmacology (2007) 152, 870–879; doi:10.1038/sj.bjp.0707403; published online 13 August 2007