bluuebunny/crossref_metadata_2025_split huggingface dataset:
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
Authors: Marini Carla , Scheffer Ingrid E. , Nabbout Rima , Mei Davide , Cox Kathy , Dibbens Leanne M. , McMahon Jacinta M. , Iona Xenia , Carpintero Rochio Sanchez , Elia Maurizio , Cilio Maria Roberta , Specchio Nicola , Giordano Lucio , Striano Pasquale , Gennaro Elena , Cross J. Helen , Kivity Sara , Neufeld Miriam Y. , Afawi Zaid , Andermann Eva , Keene Daniel , Dulac Olivier , Zara Federico , Berkovic Samuel F. , Guerrini Renzo , Mulley John C. 
Published: March 2009

SummaryObjective:  We aimed to determine the type, frequency, and size of microchromosomal copy number variations (CNVs) affecting the neuronal sodium channel α 1 subunit gene (SCN1A) in Dravet syndrome (DS), other epileptic encephalopathies, and generalized epilepsy with febrile seizures plus (GEFS+).Methods:  Multiplex ligation‐dependent probe amplification (MLPA) was applied to detect SCN1A CNVs among 289 cases (126 DS, 97 GEFS+, and 66 with other phenotypes). CNVs extending beyond SCN1A were further characterized by comparative genome hybridization (array CGH).Results:  Novel SCN1A CNVs were found in 12.5% of DS patients where sequence‐based mutations had been excluded. We identified the first partial SCN1A duplications in two siblings with typical DS and in a patient with early‐onset symptomatic generalized epilepsy. In addition, a patient with DS had a partial SCN1A amplification of 5–6 copies. The remaining CNVs abnormalities were four partial and nine whole SCN1A deletions involving contiguous genes. Two CNVs (a partial SCN1A deletion and a duplication) were inherited from a parent, in whom there was mosaicism. Array CGH showed intragenic deletions of 90 kb and larger, with the largest of 9.3 Mb deleting 49 contiguous genes and extending beyond SCN1A.Discussion:  Duplication and amplification involving SCN1A are now added to molecular mechanisms of DS patients. Our findings showed that 12.5% of DS patients who are mutation negative have MLPA‐detected SCN1A CNVs with an overall frequency of about 2–3%. MLPA is the established second‐line testing strategy to reliably detect all CNVs of SCN1A from the megabase range down to one exon. Large CNVs extending outside SCN1A and involving contiguous genes can be precisely characterized by array CGH.
High‐risk pregnancy in rhesus monkeys (Macaca mulatta): a case of ectopic, abdominal pregnancy with birth of a live, term infant, and a case of gestational diabetes complicated by pre‐eclampsia
Authors: Krugner‐Higby Lisa , Luck Melissa , Hartley Deborah , Crispen Heather M. , Lubach Gabriele R. , Coe Christopher L. 
Published: March 2009

AbstractBackground  Cases of abdominal pregnancy, in the form of intra‐abdominal mummified fetuses, have been described in nonhuman primates. Gestational diabetes and pre‐eclampsia are common pregnancy complications in women.Methods  Two timed‐bred rhesus monkeys had high‐risk pregnancies, an abdominal pregnancy with delivery of a live term infant, and a case of gestational diabetes that later developed pre‐eclampsia.Results  The monkey that had abdominal pregnancy later died from septic peritonitis. The monkey had a colonic adenocarcinoma that may have allowed leakage of intestinal contents into the abdomen. Her infant was fostered to another female and survived. The monkey with gestational diabetes and pre‐eclampsia was treated with a regimen similar to that used in women, and a live infant was delivered at day 157 of gestation by Caesarian section.Conclusion  These cases underscore the value of timed‐breeding and the similarities between pregnancy complications in women and in nonhuman primates.
Delivery of a classical antihypertensive agent through the skin by chemical enhancers and iontophoresis
Authors: Nair Anroop , Reddy Chandrasekhar , Jacob Shery 
Published: March 2009

Background/purpose: Oral therapy with antihypertensive agents is generally associated with severe GI side effects and low patient compliance. Therefore, development of a method of drug delivery that maintains the proper drug level for a prolonged period without adverse effects is required. Thus, transdermal delivery has all the necessities that are required for delivery of classical antihypertensive agents. However, the different approaches to enhance the transport of atenolol through intact skin have not resulted in a remarkable improvement.Methods: The effect of the drug concentration and a binary system (water–ethanol) on the atenolol flux was investigated. Further, the effects of chemical enhancers (menthol, oleic acid, polyethylene glycol 400, sodium lauryl sulphate, di methyl formamide and N‐methyl‐2‐pyrrolidone) at different concentrations and their combined effects with iontophoresis were examined.Results: Among the binary systems, the highest flux was obtained when 75% v/v ethanol in water was used. Atenolol flux enhanced significantly (P<0.001) at the 5% w/v concentration among all the enhancers studied. It was also observed that the combination of iontophoresis with oleic acid (5% w/v) showed the maximum benefit with a steady‐state flux of 2.66 μmol/cm2/h.Conclusion: The combination of iontophoresis with permeation enhancers was found to be promising in delivering atenolol across the skin, and the highest permeation was attained when oleic acid was combined with iontophoresis. The in vitro flux value obtained (when oleic acid combined with iontophoresis) was 0.71 mg/cm2/h, which points to the fact that a therapeutically effective concentration can be attained with 1.2 cm2 of skin contact area.
The evaluation of whitening efficacy of cosmetic products using a human skin pigmentation spot model
Authors: Tian Y. , Hoshino T. , Chen C. J. , E Y. , Yabe S. , Liu W. 
Published: March 2009

Background: To establish a pigmentation spot model on human skin and to assess whitening efficacy for whitening products by this established pigmentation spot model.Methods: Twenty subjects between 20 and 45 years old with skin phototype III or IV were selected. Three consecutive daily UV exposures were performed on buttocks of the subjects as follows: Day 1=1 minimal erythema dose (MED), Day 2=0.5 MED and Day 3=0.5 MED. After the first UV exposure, a selected whitening product was applied to the subjects twice a day on UV exposure area. The application of the whitening product to subjects on the exposed areas was continued till Day 27. CM2500d chromameter, Maxmeter MX18 and visual evaluation were used to assess changes of skin color.Results: A pigmentation spot model after UV exposure was established. The measurement of the pigment spot showed that value declined abruptly at Day 3 and then slowly reached to a lowest point at Day 6. value of the pigment spot almost remained at the same level until Day 20, thereafter increased slowly. The value showed an abrupt increase at Day 3 and slowly reached to a maximal level at Day 6. The value slowly declined toward its baseline level. Likewise, the erythema index also increased significantly at Day 3, and reached to a maximal level at Day 6 and then slowly declined. However, , and erythema indices did not return to their baseline levels during the 27‐day period of this study. On the other hand, value started to increase from Day 3 and such increase was observed continuously to Day 27. Melanin index also showed a slow increase during the first 3 days. It started to increase rapidly from Day 3 and a to maximal level at Day 9 and maintain at a plateau till Day 27 (with an exception at Day 13). To assess the whitening product by this pigmentation spot model, ΔL, , and ΔM values were analyzed. It showed that absolute ΔL value and value of whitening products were lower than those values of the vehicle of the whitening product at each checkpoint, while ΔM value of the whitening product was lower only at Day 9 and Day 20, although no statistically significant differences was found. The visual results also strongly supported that the whitening product enhanced the decrease of pigmentation.Conclusion: This study showed that repeated UV exposure was able to induce a long extensive period of pigment formation. The resulted pigmentation spot was able to maintain at an elevated level till Day 20. Clinical subjective evaluations together with combined objective instrument measurements were still important to assess whitening and spot‐removing ability of a material due to the instrument limitation for color differentiations. This kind of pigmentation spot model can be used to assess whitening efficacy for whitening or spot‐removing products. In addition, the combinations of subjective and objective methods were able to serve as advisable references to assess the whitening efficacy of products.
The facial red fluorescence of ultraviolet photography: is this color due to Propionibacterium acnes or the unknown content of secreted sebum?
Authors: Youn Sang Woong , Kim Jun Hyung , Lee Jai Eun , Kim Sun Ok , Park Kyoung Chan 
Published: March 2009

Background/purpose: Red fluorescence of the face induced by ultraviolet light is thought to be due to Propionibacterium acnes. However, recently there are reports correlating this red fluorescence with the amount of facial sebum secretion. This study was performed to investigate the relationship between the areas of facial red fluorescence with culture results of P. acnes and the amount of sebum secretion.Methods: Nineteen patients with acne were included. P. acnes cultures were done on specimens obtained from areas with red fluorescence. In addition, the amount of facial sebum secretion and the skin surface pH (SSPH) were measured. Correlation analysis of these parameters and the culture results were performed with the image analysis data from the red fluorescence of the face.Results: P. acnes was cultured in 36.5% of cases. The correlation of the culture rate with the red fluorescence areas was not significant. After classifying the patients into high‐sebum and low‐sebum groups, there was a significant difference in the red fluorescence areas. In addition, the red fluorescence area correlated with the SSPH.Conclusions: The red fluorescence area showed a stronger correlation with sebum secretion than with the presence of P. acnes. This finding suggests that the red fluorescence is affected by sebum not just P. acnes.
Family‐Identified Barriers to Medication Reconciliation
Authors: Riley‐Lawless Kathy 
Published: March 2009

PURPOSE.  This study aims to discover family‐identified barriers to providing medication information, family ability to provide medication information, and family suggestions to improve the medication reconciliation process. DESIGN AND METHODS.  One hundred families with a child with a chronic condition on daily‐prescribed medication completed a 10‐question survey.RESULTS.  Families identified not knowing, forgetting, and ability to provide information as the main reasons for not bringing medication. Half of the families that did not bring medication could not provide complete information. Families wanted to be reminded multiple times in different ways.PRACTICE IMPLICATIONS.  Many families are unable to provide complete medication information.
The Effects of Gender on the Coping Outcomes of Young Children Following an Unanticipated Critical Care Hospitalization
Authors: Small Leigh , Mazurek Melnyk Bernadette , Sidora‐Arcoleo Kimberly 
Published: March 2009

PURPOSE.  A prior evaluation of the predictors of child coping outcomes following an unanticipated critical hospitalization revealed gender differences, which were explored in this study to examine patterns of behavioral change over time. DESIGN AND METHODS.  Data from 163 mother–child (2–7 years) dyads were extracted for this study. Measures of child coping obtained 3 and 6 months following hospitalization included the Behavioral Assessment System for Children and the Post‐Hospitalization Behavior Questionnaire. RESULTS.  Maladaptive behaviors in girls increased throughout the 6‐month posthospitalization period. Boys demonstrated a peak and then decline of those same behaviors. PRACTICE IMPLICATIONS.  Given this information, gender‐specific child coping information can be developed for parents, which may lead to improved child outcomes.
Thermal emission from the stellar-mass black hole binary XTE J1118+480 in the low/hard state
Authors: Reis R. C. , Miller J. M. , Fabian A. C. 
Published: March 2009

Abstract
We report on the detection of a thermal disc component from the stellar-mass black hole binary XTE J1118+480 in the canonical low/hard state. The presence of a thermal component with a temperature of approximately 0.21 keV in the Chandra spectra of XTE J1118+480 is found at more than the 14σ confidence level. Based on this evidence, we argue that the accretion disc in XTE J1118+480 is not truncated far from the central black hole in contrast with previous claims.
Retinoblastoma: An overview for advanced practice nurses
Authors: Canty Caroline Anne 
Published: March 2009

AbstractPurpose: To provide an overview of the current literature surrounding the detection and management of retinoblastoma as well as care for the long‐term survivor to serve as a guide for advanced practice nurses.Data sources: Comprehensive review of the literature on retinoblastoma including case studies, journal reviews, retrospective studies, and briefs.Conclusions: Retinoblastoma is a pediatric intraocular malignancy usually detected in the primary care setting. Typically asymptomatic, primary care providers will often identify the presence of retinoblastoma upon routine eye exam. Prompt diagnosis and commencement of treatment are paramount as delay in diagnosis leads to higher morbidity and mortality. Treatment options vary depending on the extent of disease.Implications for practice: Although current survival rates for retinoblastoma exceed 90%, individual visual outcome and survival are dependent upon early detection and prompt referral. In addition to research and education of survivors and families, advanced practice nurses play a key role in early detection and maintaining the current survival rate.
Nurse practitioner‐led multidisciplinary teams to improve chronic illness care: The unique strengths of nurse practitioners applied to shared medical appointments/group visits
Authors: Watts Sharon A. , Gee Julie , O’Day Mary Ellen , Schaub Kimberley , Lawrence Renee , Aron David , Kirsh Susan 
Published: March 2009

AbstractPurpose: To describe the roles of nurse practitioners (NPs) in a novel model of healthcare delivery for patients with chronic disease: shared medical appointments (SMAs)/group visits based on the chronic care model (CCM). To map the specific skills of NPs to the six elements of the CCM: self‐management, decision support, delivery system design, clinical information systems, community resources, and organizational support.Data sources: Case studies of three disease‐specific multidisciplinary SMAs (diabetes, heart failure, and hypertension) in which NPs played a leadership role.Conclusions: NPs have multiple roles in development, implementation, and sustainability of SMAs as quality improvement interventions. Although the specific skills of NPs map out all six elements of the CCM, in our context, they had the greatest role in self‐management, decision support, and delivery system design.Implications for practice: With the increasing numbers of patients with chronic illnesses, healthcare systems are increasingly challenged to provide necessary care and empower patients to participate in that care. NPs can play a key role in helping to meet these challenges.
Parental disconnect between perceived and actual weight status of children: A metasynthesis of the current research
Authors: Doolen Jessica , Alpert Patricia T. , Miller Sally K. 
Published: March 2009

AbstractPurpose: Obesity is one of the most common chronic diseases in childhood. Many studies offer a variety of explanations for the alarming increase in childhood obesity; however, none discuss why an apparent disconnect exists in parental perceptions of their child’s weight status. The purpose of this article was to review the current research literature on parental perceptions about their children’s weight.Data source: The articles included in this review were retrieved through a literature search using PubMed. Key words used to obtain relevant articles include childhood obesity, childhood overweight, and parental perception.Conclusions: Several studies looked at parental perceptions of childhood obesity generated from the United Kingdom, Australia, Italy, and the United States. Universally, parents were more likely to misperceive their child’s weight. This was especially true for parents who were themselves overweight.Implications for practice: If parents do not recognize their child as at risk for overweight or overweight, they cannot intervene to diminish the risk factors for pediatric obesity and its related complications. More research is needed to identify why this phenomenon occurs. Only then can effective interventions be initiated.
Family nurse practitioner clinical requirements: Is the best recommendation 500 hours?
Authors: Bray Christell O. , Olson Karen Koozer 
Published: March 2009

AbstractPurpose: The purpose of the article was to stimulate further dialog around the recommended number of clinical hours required for students in family nurse practitioner (FNP) programs.Data sources: Nursing literature was reviewed for research supporting the current clinical hour requirement. Both authors are faculty in FNP programs that provided experiential data for the article.Conclusions and implications for practice: There are no scientific data upon which to base the number of required clinical hour. Researchers need to identify what type and how many clinical hours are needed to prepare competent new FNP graduates.
Latent autoimmune diabetes of adulthood (LADA): An often misdiagnosed type of diabetes mellitus
Authors: Appel Susan J , Wadas Theresa M , Rosenthal Richard S , Ovalle Fernando 
Published: March 2009

AbstractPurpose: The purpose of this article is to raise awareness about a frequently misdiagnosed form of diabetes, latent autoimmune diabetes of adulthood (LADA), to describe its clinical and epidemiological characteristics, and to compare them to those of the more common and widely known types of diabetes, type 1 diabetes mellitus (DM) and type 2 DM.Data sources: A review of the pertinent literature describing the features of LADA from 2000–2007 is summarized.Conclusions: LADA is a rather common and often underrecognized form of diabetes whose clinical presentation falls somewhere between that of type 1 DM and type 2 DM. From a pathophysiological perspective, it is more closely related to type 1 DM, and some have even used the term type 1.5 diabetes to refer to it; however, it is most often misdiagnosed and treated as type 2 DM.Implications for practice: Nurse practitioners (NPs) should always consider alternate diagnoses when patients with newly or previously identified adult‐onset diabetes mellitus do not fit the traditional stereotype of type 2 DM (i.e., overweight with signs of insulin resistance and a significant family history of diabetes). Statistically, strong consideration must be given to the diagnosis of LADA, especially in those who are of normal weight, show little evidence of insulin resistance, and have hardly any family history of diabetes. Knowing the patient’s exact diabetes type can give the NP a much greater understanding of the natural history of the patient’s disease, the changes that may occur as the patient ages, and how to optimally manage their diabetes to minimize complications. Likewise, when a patient is correctly diagnosed, they can be empowered to manage their diabetes with the appropriate therapies.
Lack of association between the MTHFR (C677T) polymorphism and atopic disease
Authors: Thuesen Betina Heinsbaek , Husemoen Lise Lotte Nystrup , Fenger Mogens , Linneberg Allan 
Published: March 2009

AbstractBackground:  Impaired folate metabolism has been suggested as a potential risk factor for the development of asthma and atopic disease. However, there have been conflicting reports on the potential association between atopic disease and a common polymorphism of the methylene‐tetrahydrofolate reductase (MTHFR)‐gene, a well‐known marker of impaired folate metabolism.Objectives:  The aim of this study was to investigate the association between the MTHFR (C677T) polymorphism and different outcome variables of asthma and atopic disease.Methods:  This study was a population‐based study of 1189 participants aged 15–77 years living in Copenhagen, the Capital of Denmark. Examinations included measurements of specific IgE and skin prick tests against inhalant allergens, metacholine bronchial hyper‐reactivity, and serum eosinophilic cationic protein, and a self‐administered questionnaire about diagnoses and symptoms of allergy and asthma. In addition, participants were genotyped for the MTHFR (C677T) polymorphism.Results:  None of the examined outcomes were significantly associated with the MTHFR (C677T) polymorphism.Conclusions:  The results of this study using detailed objective markers of atopic disease do not support the hypothesis that impaired folate metabolism as reflected by the MTHFR genotype is involved in the development of atopic disease.Please cite this paper as: Thuesen BH, Husemoen LLN, Fenger M and Linneberg A. Lack of association between the MTHFR (C677T) polymorphism and atopic disease. The Clinical Respiratory Journal 2009; 3: 102–108.
Development and characterization of 15 polymorphic microsatellite loci isolated from Rafinesque's big‐eared bat, Corynorhinus rafinesquii
Authors: PIAGGIO ANTOINETTE J. , FIGUEROA JULIA A. , PERKINS SUSAN L. 
Published: March 2009

AbstractWe developed and characterized 15 microsatellite markers for Rafinesque's big‐eared bat, Corynorhinus rafinesquii. In a population from Tennessee, the number of alleles per locus ranged from three to 13 and observed heterozygosities were 0.35 to 0.97 per locus. These loci will provide appropriate variability for estimation of population connectivity, demographic parameters, and genetic diversity for this species of concern.
Evidence of a Functional B-Cell Immunodeficiency in Adults Who Experience Serogroup C Meningococcal Disease
Authors: Foster Rachel A. , Carlring Jennifer , McKendrick Michael W. , Lees Andrew , Borrow Ray , Read Robert C. , Heath Andrew W. 
Published: March 2009

ABSTRACTAfter adolescence, the incidence of meningococcal disease decreases with age as a result of the cumulative immunizing effect of repeated nasopharyngeal colonization. Nevertheless, some adults succumb to meningococcal disease, so we hypothesized that this is due to a subtle functional immunological defect. Peripheral blood lymphocytes derived from survivors of serogroup C meningococcal disease and from age- and sex-matched controls were incubated with a polyclonal B-cell activator containing anti-immunoglobulin D (α-δ-dex) employed to mimic antigen-specific stimuli encountered during immune responses to bacterial polysaccharides, with and without T-cell activation (using anti-CD3/anti-CD28). Subsequent proliferation and activation of T and B lymphocytes were measured. In patients, T-cell responses to polyclonal stimuli and the delivery of T-cell help to B cells were unimpaired. Levels of B-cell proliferation in response to α-δ-dex stimulation alone were low in all samples but were significantly lower in patients than in controls, and these differences were more pronounced with the addition of T-cell help. The data are consistent with the presence of a subtle immunodeficiency in adults who have exhibited susceptibility to meningococcal disease. This defect is manifested as an impaired B-cell response to T-cell-independent type 2 antigens analogous to bacterial capsular polysaccharide.