bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly
Authors: Buxbaum Joseph D , Cai Guiqing , Nygren Gudrun , Chaste Pauline , Delorme Richard , Goldsmith Juliet , Råstam Maria , Silverman Jeremy M , Hollander Eric , Gillberg Christopher , Leboyer Marion , Betancur Catalina 
Published: November 2007

Abstract

Background
Sotos syndrome is an overgrowth syndrome characterized by macrocephaly, advanced bone age, characteristic facial features, and learning disabilities, caused by mutations or deletions of the NSD1 gene, located at 5q35. Sotos syndrome has been described in a number of patients with autism spectrum disorders, suggesting that NSD1 could be involved in other cases of autism and macrocephaly.

Methods
We screened the NSD1 gene for mutations and deletions in 88 patients with autism spectrum disorders and macrocephaly (head circumference 2 standard deviations or more above the mean). Mutation analysis was performed by direct sequencing of all exons and flanking regions. Dosage analysis of NSD1 was carried out using multiplex ligation-dependent probe amplification.

Results
We identified three missense variants (R604L, S822C and E1499G) in one patient each, but none is within a functional domain. In addition, segregation analysis showed that all variants were inherited from healthy parents and in two cases were also present in unaffected siblings, indicating that they are probably nonpathogenic. No partial or whole gene deletions/duplications were observed.

Conclusion
Our findings suggest that Sotos syndrome is a rare cause of autism spectrum disorders and that screening for NSD1 mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome.
Characterization of EvaGreen and the implication of its physicochemical properties for qPCR applications
Authors: Mao Fei , Leung Wai-Yee , Xin Xing 
Published: November 2007

Abstract

Background
EvaGreen (EG) is a newly developed DNA-binding dye that has recently been used in quantitative real-time PCR (qPCR), post-PCR DNA melt curve analysis and several other applications. However, very little is known about the physicochemical properties of the dye and their relevance to the applications, particularly to qPCR and post PCR DNA melt curve analysis. In this paper, we characterized EG along with a widely used qPCR dye, SYBR Green I (SG), for their DNA-binding properties and stability, and compared their performance in qPCR under a variety of conditions.

Results
This study systematically compared the DNA binding profiles of the two dyes under different conditions and had these findings: a) EG had a lower binding affinity for both double-stranded DNA (dsDNA) and single-stranded DNA (ssDNA) than SG; b) EG showed no apparent preference for either GC- or AT-rich sequence while SG had a slight preference for AT-rich sequence; c) both dyes showed substantially lower affinity toward ssDNA than toward dsDNA and even lower affinity toward shorter ssDNA fragments except that this trend was more pronounced for EG. Our results also demonstrated that EG was stable both under PCR condition and during routine storage and handling. In the comparative qPCR study, both EG and SG exhibited PCR interference when used at high dye concentration, as evident from delayed Ct and/or nonspecific product formation. The problem worsened when the chain extension time was shortened or when the amplicon size was relatively long (>500 bp). However, qPCR using EG tolerated a significantly higher dye concentration, thus permitting a more robust PCR signal as well as a sharper and stronger DNA melt peak. These differences in qPCR performance between the two dyes are believed to be attributable to their differences in DNA binding profiles.

Conclusion
These findings suggest that an ideal qPCR dye should possess several DNA-binding characteristics, including a "just right" affinity for dsDNA and low or no affinity for ssDNA and short DNA fragments. The favorable DNA-binding profile of EG, coupled with its good stability and instrument-compatibility, should make EG a promising dye for qPCR and related applications.
Biological variability dominates and influences analytical variance in HPLC-ECD studies of the human plasma metabolome
Authors: Shurubor Yevgeniya I , Matson Wayne R , Willett Walter C , Hankinson Susan E , Kristal Bruce S 
Published: November 2007

Abstract

Background
Biomarker-based assessments of biological samples are widespread in clinical, pre-clinical, and epidemiological investigations. We previously developed serum metabolomic profiles assessed by HPLC-separations coupled with coulometric array detection that can accurately identify ad libitum fed and caloric-restricted rats. These profiles are being adapted for human epidemiology studies, given the importance of energy balance in human disease.

Methods
Human plasma samples were biochemically analyzed using HPLC separations coupled with coulometric electrode array detection.

Results
We identified these markers/metabolites in human plasma, and then used them to determine which human samples represent blinded duplicates with 100% accuracy (N = 30 of 30). At least 47 of 61 metabolites tested were sufficiently stable for use even after 48 hours of exposure to shipping conditions. Stability of some metabolites differed between individuals (N = 10 at 0, 24, and 48 hours), suggesting the influence of some biological factors on parameters normally considered as analytical.

Conclusion
Overall analytical precision (mean median CV, ~9%) and total between-person variation (median CV, ~50–70%) appear well suited to enable use of metabolomics markers in human clinical trials and epidemiological studies, including studies of the effect of caloric intake and balance on long-term cancer risk.
Spore germination in Saccharomyces cerevisiae: global gene expression patterns and cell cycle landmarks
Authors: Joseph-Strauss Daphna , Zenvirth Drora , Simchen Giora , Barkai Naama 
Published: November 2007

Abstract
Background
Spore germination in the yeast Saccharomyces cerevisiae is a process in which non-dividing haploid spores re-enter the mitotic cell cycle and resume vegetative growth. To study the signals and pathways underlying spore germination we examined the global changes in gene expression and followed cell-cycle and germination markers during this process.

Results
We find that the germination process can be divided into two distinct stages. During the first stage, the induced spores respond only to glucose. The transcription program during this stage recapitulates the general transcription response of yeast cells to glucose. Only during the second phase are the cells able to sense and respond to other nutritional components in the environment. Components of the mitotic machinery are involved in spore germination but in a distinct pattern. In contrast to the mitotic cell cycle, growth-related events during germination are not coordinated with nuclear events and are separately regulated. Thus, genes that are co-induced during G1/S of the mitotic cell cycle, the dynamics of the septin Cdc10 and the kinetics of accumulation of the cyclin Clb2 all exhibit distinct patterns of regulation during spore germination, which allow the separation of cell growth from nuclear events.

Conclusion
Taken together, genome-wide expression profiling enables us to follow the progression of spore germination, thus dividing this process into two major stages, and to identify germination-specific regulation of components of the mitotic cell cycle machinery.
Prediction Model for Adult Height of Small for Gestational Age Children at the Start of Growth Hormone Treatment
Authors: de Ridder Maria A. J. , Stijnen Theo , Hokken-Koelega Anita C. S. 
Published: November 2007

Abstract
Context: GH treatment is approved for short children born small for gestational age (SGA). The optimal dose is not yet established.
Objective: Our objective was to develop a model for prediction of height at the onset of puberty and of adult height (AH).
Design and Setting: Two GH studies were performed in short SGA children.
Patients/Intervention: A total of 150 SGA children with height sd scores (SDS) less than −2, age 3 yr or older, no signs of catch-up growth, available height at the onset of puberty, and at least 1 yr of GH treatment before the onset of puberty were studied. In one study, patients were randomly assigned to either 0.033 or 0.067 mg/kg·d; in the other study all received 0.033 mg/kg·d. In 71 children, AH was reached.
Main Outcome Measures: Height SDS at the onset of puberty and AH SDS were calculated.
Results: Determinants positively related to height SDS at the onset of puberty were: height SDS at the start; target height SDS; and GH dose, whereas age at the start and female gender were negatively related. Positively related to AH SDS were: height SDS and chronological age − bone age at the start; target height SDS; and GH dose, whereas serum IGF binding protein (IGFBP)-3 SDS at the start was negatively related. There was a significant interaction between GH dose and IGFBP-3 SDS, indicating a smaller GH dose effect for higher levels of IGFBP-3. The final model explained 57% of the variance in height SDS at the onset of puberty and 41% of AH SDS.
Conclusions: The prediction model for height SDS at the onset of puberty and AH SDS of short SGA children treated with GH provides useful information about the expected long-term growth. Because GH dosage is one of the determinants, the model aids in determining the optimal GH dose for each child.
Smart Photoresponsive Polymer Systems Organized in Two Dimensions
Authors: Seki Takahiro 
Published: November 2007

Abstract
Light can be used as a precise stimulus by selecting suitable wavelengths, polarization directions, and intensity, allowing non-contact control. When photoresponsive (mostly photochromic) molecular units are combined with polymeric materials and liquid-crystalline materials, various types of smart photofunctions can be created. Smart functions involve photomechanical responses, photoalignment of anisotropic materials, orientational amplifications, photoinduced phase changes, photo-tuning of microphase separated structures in block copolymers, and so forth. This article reviews our research strategies, backgrounds, and topics to put forth smart functions in polymer systems organized in two dimensions. It is anticipated that light-driven smart film systems will find many versatile applications as promising future materials.
The Salami Maker Who Fought the Law
Authors: digregorio sarah 
Published: November 2007

Since the early 20th century, the Buzzio family has been making and selling traditional Piedmontese charcuterie and fresh sausages out of an unassuming Manhattan storefront. Marc Buzzio, whose father Ugo founded the business, provides all manner of salamis to famous chefs and neighborhood regulars alike. Buzzio works in small batches, crafting his product out of heritage pork, and curing it in his low-tech drying room, the same way it has been done for centuries.
But in the summer of 2002, disaster struck in the form of new USDA regulations for dry aged, ready-to-eat products. The regulations were written with industrial producers in mind, not mom-and-pop operations, and certainly not this beloved neighborhood store where dry-cured sausages have been made in the same careful way for nearly eighty years. This story chronicles the struggles of a small producer to adapt to regulations that are increasingly designed for mass-market food production.
Clinic-Community Partnerships: A Foundation for Providing Community Supports for Diabetes Care and Self-Management
Authors: Brownson Carol A. , O'Toole Mary L. , Shetty Gowri , Anwuri Victoria V. , Fisher Edwin B. 
Published: November 2007

In BriefAddressing complex challenges such as diabetes calls for a comprehensive approach in which health care organizations and communities work together for change. This article describes approaches and lessons learned from eight clinic-community demonstration projects funded through the Diabetes Initiative of the Robert Wood Johnson Foundation.
From DSME to DSMS: Developing Empowerment-Based Diabetes Self-Management Support
Authors: Funnell Martha Mitchell , Tang Tricia S. , Anderson Robert M. 
Published: November 2007

In BriefDiabetes education has changed a great deal in recent years. Diabetes self-management education (DSME) programs have become more patient-centered and theoretically based, and there is a greater emphasis on providing ongoing support to sustain the self-management gains made by patients as a result of education. Based on the frameworks of self-determination and autonomy support,empowerment has served as the philosophical basis for diabetes self-management education for more than 15 years. This article describes the evolution of empowerment-based programs from DSME to ongoing diabetes self-management support and provides practical strategies for educators to use in the development of these programs.
Classification Of Perinatal And Late Neonatal Deaths In Iceland
Authors: Georgsdóttir Ingibjörg , Geirsson Reynir Tómas , Jóhannsson Jóhann Heidar , Biering Gunnar , Snzdal Gunnlaugur 
Published: November 2007

A retrospective case record analysis of all perinatal and late neonatal deaths in Iceland in the periods 1976–80 and 1981–85 was done and the causes of death classified according to the extended Aberdeen classification. There was a significant (p<0.0001) reduction in number of deaths between the two periods with perinatal mortality rates declining from 10.6/1000 in 1976–80 to 6.8/1000 in 1981–85. In 1976–80 there were 81 (33%) antepartum, 37 (15%) intrapartum and 128 (52%) neonatal deaths compared to 61 (38%) antepartum, 13 (8%) intrapartum and 86 (54%) neonatal deaths in 1981–85.Fetal abnormality was the most common cause of death in both periods followed by the category Low birthweight in 1976–80. In 1981–85 increased morphological detection of infection in infants of very low birthweight by placental examination and autopsies lead to a shift from the category Low birthweight to Maternal Disease, the second most common cause in that period.To achieve lower perinatal mortality rates efforts should be directed towards lowering anteparturn losses near term and increasing survival of very low birthweight infants.
Antiphospholipid antibodies and risk of intrauterine late fetal death
Authors: Bocciolone Luca , Meroni Plerlulgl , Parazzini Fabio , Tincani Angela , Radici Enrico , Tarantini Michele , Rossi Edoardo , Bianchi Cosetta , Mezzanotte Carmela , D'angelo Armando 
Published: November 2007

Study objective. Goal of the study was to analyze the relationship between anticardiolipin antibodies lupus anticoagulant and the risk of intrauterine late fetal death. Design. A case‐control study was conducted in a network of general and teaching hospitals in northern Italy. Cases studied were 99 women (median age 27 years), without clinical evidence of systemic lupus erythematosus or other immunological disorders who had an ‘unexplained’ intrauterine fetal death at or after the 20 weeks of gestation. The control subjects tiere 85 women (median age 28 years) who gave birth at term (> 37 weeks gestation) to healthy infants on randomly selected days at the same hospitals where cases had been identified.Results. The presence of lupus anticoagulant was detected in four of the 99 cases (4%. 95% confidence interval 2% ‐15%) and none of the 85 controls. A total of 10 out of the 89 cases (11%. 95 confidence interval 6%‐23%). but none of the 79 controls for whom anticardiolipin antibodies value was available had elevated anticardiolipin antibodies; this difference was statistically significant (x2 = 9.38, p<0.01).
The selection criteria on an IVF program can remove the association between maternal age and implantation
Authors: Arthur Ian D. , Anthony Frederick W. , Masson Gordon M. , Thomas Eric J. 
Published: November 2007

Background. 1190 consecutive in vitro fertilization (IVF) treatment cycles from the Southampton University IBUPA Chalybeate unit, spanning a four year period, were studied retrospectively in order to assess the relationship between maternal age and implantation. Our aim was to evaluate the hypothesis that the number of transferred embryos can be determined by age alone.Method. The cases were allocated to two age groups, Group 1 was composed of patients of less than or equal to 35 years of age and Group 2 of patients greater than 35 years of age.Results. We found that the selection criteria used in our programme for abandoning treatment cycles led to significantly more older patients being excluded from oocyte collection (p< 0.001). The patients from both groups that progressed to oocyte collection and embryo transfer showed no significant difference in embryo implantation. The overall implantation rate (12.4%) and clinical pregnancy rate per embryo transfer (22.8%) were achieved by being able to transfer comparable numbers of embryos in both age groups and in spite of the younger age group having a significantly better quality of transferred embryos.Conclusion. Although advancing maternal age predisposes to a reduced chance of success from IVF treatment, maternal age alone was not a useful predictor of embryo implantation or endometrial receptivity in completed IVF treatment cycles.
Peritoneal mesotheliomas in Danish women:
Authors: Nielsen Anne M. , Olsen Jørgen H. , Madsen Per M. , Francis Dorthe , Almind Merete 
Published: November 2007

An unexpectedly large number of peritoneal mesotheliomas among women was reported to the Danish Cancer Registry during the years 1960 through 1985. In a case‐control study, we tested whether this was due to diagnostic misclassification or to direct exposure of the peritoneal membranes to talc during abdominal surgery. Tissue specimens were available from 96 reported peritoneal mesotheliomas; 35 cases (37%) were regarded as verified mesotheliomas, and 33 (34%) as possible mesotheliomas. Information on any intraabdominal surgery was obtained from the hospital records of these 68 cases and for 206 controls with a cancer of the uterined corpus or pancreas. No association was seen between peritoneal mesotheliomas and abdominal surgery performed more than 25 years prior to cancer diagnosis (odds ratio, 0.83; 95″ confidence interval, 0.35‐1.94).Conclusion. Misclassification of other cancers was the reason for the observed excess of peritoneal mesotheliomas.
Is fetal heart rate variability a good predictor of fetal outcome?
Authors: Samueloff Arnon , Langer Oded , Berkus Michael , Field Nancy , Xenakis Elly , Ridgway Louis 
Published: November 2007

Objective. The purpose of this study was to investigate, in a prospective manner, whether fetal heart rate (FHR) variability serves as a reliable single predictor of fetal outcome.Methods. We undertook a prospective study of 2,200 consecutive deliveries. Preterms < 37 weeks, twins, stillbirths and fetal malformations were excluded from the study. FHR tracings were analyzed for variability in every delivery. Three windows were evaluated: 1) early in labor (30 min); 2) in the active phase of labor − 1 h prior to complete cervical dilatation (30 min); and 3) throughout the second stage of delivery, in segments of 30 min. Using the tracings taken at admission and prior to delivery, FHR variability was scored according to five previously used evaluative methods, and was correlated to the following three fetal outcome parameters: a) arterial cord blood pH < 7.2, > 7.2; b) 5‐min Apgar > 6, < 7; and c) immediate outcome (‘good’ defined as newborn going home after 2‐5 days, with no neonatal intensive care unit (NICU) admission).Results. 1. The majority of cases with adverse fetal outcome exhibited good FHR variability (mean, 80%). 2. Low FHR variability is not common in newborns with adverse general outcome (mean, 11.5%). 3. The predictability of FHR variability (using the five most common scoring methods) for evaluating adverse fetal outcome revealed low sensitivity (mean, 20.3%) and low predictive value (mean, 11.6%).Conclusion. FHR variability by itself cannot serve as the only indicator of fetal wellbeing. The presence of low variability should alert the physician; however, good FHR variability should not be interpreted as reassuring.
Endometriosis in monozygotic twins
Authors: Moen Mette H. 
Published: November 2007

Objective. To study the reproductive and medical history of monozygotic twin sisters and mothers of patients with endometriosis.Material and methods. Among 515 patients with endometriosis, eight had a monozygotic twin sister all of whom had had a gynecological laparoscopy or laparotomy. In addition, five of their mothers had had a laparotomy. Details about these 13 relatives were obtained either from medical records (ten cases) or by unmistakable reports from the proband (three cases).Result. Six of the monozygotic twin sisters (75%) also had symptomatic endometriosis compared with 3.8% among other types of sisters (p < 0.0005). Three of the mothers (38%) had either endometriosis or adenomyosis.Conclusion. This study gives support to the assumption that endometriosis has a genetic trait.
Indications for cesarean section in singleton pregnancies in two Danish counties with different cesarean section rates
Authors: Sperling Lene S. , Henriksen Tine Brink , Ulrichsen Helle , Hedegård Morten , Møller Henrik , Hansen Villy , Øvusen Bjarni , Secher Niels Jørgen 
Published: November 2007

Objective. To compare the clinical indications for delivery by cesarean section (CS) in singleton pregnancies in two Danish counties with different CS rates, and to describe the relation between CS in the two counties and parity, mother's age, type of delivery department, gestational age at birth, and birthweight.Design. A population‐based, follow‐up study based on antecedent data.Setting. Two Danish counties, where women deliver in obstetric as well as surgical departments, with a CS rate of 8.3% and 15.2%, respectively.Subjects. All pregnant women in the two counties who delivered in 1989.Main outcome measures. Comparison of the rates of CS in the two counties carried out for five well‐defined clinical indications: Previous cesarean section, breech presentation, dystocia, fetal distress, and other.Secondary measures. Neonatal and maternal outcomes.Results. In the county with the higher frequency of CS, all indications for CS were used significantly more often, except from ‘fetal distress’ in primiparous women. In this county ‘breech presentation’ was the commonest indication among primiparous women, whereas ‘fetal distress’ was the most common in the county with the lower CS rate. For multiparous women the highest CS rates in both counties were found among women who had had a previous CS. The major difference between the two counties was the threefold greater risk of CS indicated by ‘dystocia’ among multiparous women in the county with the higher CS rate.Conclusion. The regional differences in CS could not be explained by differences between the two populations or by an increased rate of a single indication, but could be due to differences in obstetric practice or expectations or demands from the pregnant women.