bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel missense mutation in the NYX gene associated with high myopia
Authors: Yip Shea Ping , Li Choi Chu , Yiu Wai Chi , Hung Wing Hong , Lam Wai Wa , Lai Man Chi , Ng Po Wah , Fung Wai Yan , Chu Patrick HW , Jiang Bo , Chan Henry HL , Yap Maurice KH 
Published: February 2013

AbstractPurposeMyopia is a complex eye disorder. The X‐linked form of complete congenital stationary night blindness (CSNB1A) is usually associated with moderate to high myopia, and is caused by mutations in the NYX gene. We explored if NYX mutations could be associated with high myopia, but not CSNB1A.MethodsThe coding regions of the NYX gene were sequenced for 204 Chinese males with high myopia (−8.00 dioptres or worse for both eyes). The frequencies of any sequence variations identified were determined in 200 Chinese males without myopia. Electro‐oculography, electroretinography and standard cone function tests were performed on a male high myope carrying a mutation.ResultsA missense mutation (c.529_530GC>AT or p.Ala177Met) was identified in one male subject with high myopia, but not in 200 male emmetropes. Neither was this variant found in any of the 529 male and 567 female subjects of various ethnic backgrounds whose genome sequences are documented in the 1000 Genomes Project database. The mutation was predicted to affect the protein function. From ocular electrophysiological tests, the proband was found to have normal rod function, but mildly abnormal cone function and inner retina function. He did not seem to suffer from CSNB1A.ConclusionsOne novel missense NYX mutation was identified in an adult male presented with high myopia, but without the major electrophysiological features normally associated with CSNB1A. NYX gene mutations may be considered as one of the rare genetic risk factors for high myopia without key features of CSNB1A.
Inheritance of resistance to Ascochyta rabiei in 15 chickpea germplasm accessions
Authors: Labdi Mohamed , Malhotra Rajinder S. , Benzohra Ibrahim E. , Imtiaz Muhammad 
Published: February 2013

AbstractInheritance of resistance to race 4 of Ascochyta rabiei was studied in fifteen chickpea accessions known internationally for Ascochyta blight (AB) resistance. Resistance in ILC 200, ILC 5921, ILC 6043 and ILC 6090 was governed by a single recessive gene. Resistance in ILC 202 and ILC 2956 was conferred by two recessive complementary genes. In the case of ILC 5586, resistance was controlled by two dominant complementary genes and in the case of ILC 2506, two recessive genes with epistasis interaction were responsible for resistance. Resistance in ILC 3279, ILC 3856 and ILC 4421 was controlled either by three recessive genes or two recessives duplicated genes and in ILC 72, ILC 182 and ILC 187 resistance was polygenic in nature. The study provided insights into the genetics of Ascochyta blight resistance, and these could be used in crossing programmes to develop durable resistance. While the virulence spectrum of the pathogen in a region plays a crucial role in the deployment of resistance, ILC72, ILC182, ILC200, ILC442 and ILC6090 could provide acceptable level of resistance if incorporated into commercial cultivars.
Differential response of cocoa (Theobroma cacao) families to field establishment stress
Authors: Padi Francis Kwame , Adu‐Gyamfi Paul , Akpertey Abraham , Arthur Alfred , Ofori Atta 
Published: February 2013

AbstractHigh seedling mortality during the establishment phase of cocoa has become a critical constraint to sustainable cocoa farming. The objective of this study was to develop varieties with higher seedling survival compared with cultivars currently recommended for planting in denuded regions. Thirty‐seven families composed into two sets of 18 (families from recommended clones) and 19 (families from recently introduced clones) were evaluated for field survival under full sunlight and dry weather conditions. Families differed significantly for vigour (increase in trunk cross‐sectional area, TCSA) and percentage of survived seedlings by the end of the dry weather conditions. Survival and vigour were significantly correlated in only one set of families. The contribution of general combining ability (GCA) to seedling survival was low to moderate. An Amelonado clone and clones from the Iquitos genetic group had negative GCA estimates for both increase in TCSA and survival. Clones of Scavina origin had the most positive contribution to survival. The key outcome of the study was that cocoa families with higher establishment success can be obtained from the currently available germplasm.
Therapeutic Patient Education in Atopic Dermatitis: Worldwide Experiences
Authors: Stalder Jean‐Francois , Bernier Claire , Ball Alan , De Raeve Linda , Gieler Uwe , Deleuran Mette , Marcoux Danielle , Eichenfield Lawrence F. , Lio Peter , Lewis‐Jones Sue , Gelmetti Carlo , Takaoka Roberto , Chiaverini Christine , Misery Laurent , Barbarot Sébastien ,   for the Oriented Patient‐Education Network in Dermatology (OPENED)
Published: February 2013

AbstractTherapeutic patient education (TPE) has proven effective in increasing treatment adherence and improving quality of life (QoL) for patients with numerous chronic diseases, especially atopic dermatitis (AD). This study was undertaken to identify worldwide TPE experiences in AD treatment. Experts from 23 hospitals, located in 11 countries, responded to a questionnaire on 10 major items. Patients in TPE programs were mainly children and adolescents with moderate to severe AD or markedly affected QoL. Individual and collective approaches were used. Depending on the center, the number of sessions varied from one to six (corresponding to 2 to 12 hours of education), and 20 to 200 patients were followed each year. Each center's education team comprised multidisciplinary professionals (e.g., doctors, nurses, psychologists). Evaluations were based on clinical assessment, QoL, a satisfaction index, or some combination of the three. When funding was obtained, it came from regional health authorities (France), insurance companies (Germany), donations (United States), or pharmaceutical firms (Japan, Italy). The role of patient associations was always highlighted, but their involvement in the TPE process varied from one country to another. Despite the nonexhaustive approach, our findings demonstrate the increasing interest in TPE for managing individuals with AD. In spite of the cultural and financial differences between countries, there is a consensus among experts to integrate education into the treatment of eczema.
Cutaneous Histologic Artifact Associated with the Use of a Needle‐Free Anesthesia Device for Skin Biopsy
Authors: Smith Jessica A. , Zhang Cathryn Z. , Rupani Reena , Lian Fangru 
Published: February 2013

AbstractA needle‐free system that delivers lidocaine to the dermis using pressurized gas is often used as an alternative anesthetic for venipuncture and intravenous catheterization in children. This case report illustrates the potential histologic artifacts that may arise when using a needleless device for a cutaneous punch biopsy. We suggest against using a needleless system for pediatric skin biopsies.
Agenesis of the Inferior Vena Cava in H Syndrome Due to a Novel SLC29A3 Mutation
Authors: Mutlu Gül Yesiltepe , Ramot Yuval , Babaoglu Kadir , Altun Gurkan , Zlotogorski Abraham , Molho‐Pessach Vered 
Published: February 2013

AbstractWe present a 10‐year‐old girl with typical clinical features of H syndrome. Complete agenesis of the inferior vena cava was found on echocardiography and radiologic studies. Mutation analysis of the SLC29A3 gene revealed a novel nonsense mutation. This unique case extends the clinical and mutation spectrum associated with H syndrome and underlines the importance of routine cardiac screening in this disorder.
An Unusual Case of Dermatitis Herpetiformis
Authors: Clark Kara , Powers Roxann , Kovach Rodney 
Published: February 2013

AbstractAn adolescent boy whose initial presentation consisted of an asymmetric, nonvesicular rash was eventually diagnosed with dermatitis herpetiformis (DH). Certain factors, including lesions limited to the genitals, an initial biopsy revealing nonspecific findings on microscopy studies, and the absence of characteristic direct immunofluorescence findings lessened initial clinical suspicions of DH over that of scabies infestation. Classic microscopic findings of DH were identified on repeat biopsy. Serologic studies revealed immunoglobulin A (IgA) endomysial and IgA tissue transglutaminase positivity. Response to dapsone proved dramatic. Histopathologic findings, serology, and response to treatment rather than classical clinical findings and direct immunofluorescence supported the diagnosis of DH in this case.
Dermoscopy for the Pediatric Dermatologist Part I: Dermoscopy of Pediatric Infectious and Inflammatory Skin Lesions and Hair Disorders
Authors: Haliasos Elena C. , Kerner Miryam , Jaimes‐Lopez Natalia , Rudnicka Lidia , Zalaudek Iris , Malvehy Josep , Hofmann‐Wellenhof Rainer , Braun Ralph P. , Marghoob Ashfaq A. 
Published: February 2013

AbstractThe dermoscope allows physicians to examine the macroscopic and microscopic primary morphology of skin lesions, identify subtle clinical clues, confirm naked‐eye clinical diagnoses, and monitor treatment progress while posing little threat to the young patient. This review summarizes important dermoscopic structures seen in infectious and inflammatory skin conditions and hair disorders in children. Scabies, pediculosis, phthiriasis, molluscum contagiosum, tinea nigra, and verrucae are well characterized dermoscopically by delta‐shaped structures, ovoid‐shaped nits, the crab louse, red corona, brown strands or spicules, and multiple densely packed papilla with a central black dot surrounded by a whitish halo, respectively. These dermoscopic structures will be discussed, focusing on the dermoscopic morphologies and dermoscopic sensitivity for diagnosis and its utility in monitoring treatment progress. Dermoscopy has also been shown to significantly improve the clinician's diagnostic and monitoring accuracy of inflammatory skin lesions such as psoriasis, which is characterized dermoscopically by uniformly distributed dotted blood vessels, and lichen planus, which is characterized by whitish lines on a purple to reddish background. Dermoscopy of the hair and scalp (trichoscopy) facilitates the differential diagnosis of hair diseases in children, including alopecia areata, trichotillomania, and tinea capitis. It can also assist in the diagnosis of multiple genetic hair shaft disorders, such as monilethrix, trichorrhexis invaginata, trichorrhexis nodosa, pili torti, and pili annulati.
Hypohidrotic Ectodermal Dysplasia, Osteopetrosis, Lymphedema, and Immunodeficiency in an Infant with Multiple Opportunistic Infections
Authors: Carlberg Valerie M. , Lofgren Sabra M. , Mann Julianne A. , Austin Jared P. , Nolt Dawn , Shereck Evan B. , Davila‐Saldana Blachy , Zonana Jonathan , Krol Alfons L. 
Published: February 2013

AbstractOsteopetrosis, lymphedema, hypohidrotic ectodermal dysplasia, and immunodeficiency (OL‐HED‐ID) is a rare X‐linked disorder with only three reported prior cases in the English‐language literature. We describe a case of OL‐HED‐ID in a male infant who initially presented with congenital lymphedema, leukocytosis, and thrombocytopenia of unknown etiology at 7 days of age. He subsequently developed gram‐negative sepsis and multiple opportunistic infections including high‐level cytomegalovirus viremia and Pneumocystis jiroveci pneumonia. The infant was noted to have mildly xerotic skin, fine sparse hair, and periorbital wrinkling, all features suggestive of ectodermal dysplasia. Skeletal imaging showed findings consistent with osteopetrosis, and immunologic investigation revealed hypogammaglobulinemia and mixed T‐ and B‐cell dysfunction. Genetic testing revealed a novel mutation in the nuclear factor kappa beta (NF‐KB) essential modulator (NEMO) gene, confirming the diagnosis of OL‐HED‐ID. Mutations in the NEMO gene have been reported in association with hypohidrotic ectodermal dysplasia with immunodeficiency (HED‐ID), OL‐HED‐ID, and incontinentia pigmenti. In this case, we report a novel mutation in the NEMO gene associated with OL‐HED‐ID. This article highlights the dermatologic manifestations of a rare disorder, OL‐HED‐ID, and underscores the importance of early recognition and prompt intervention to prevent life‐threatening infections.
Globally Engaged Nursing Education with Local Immigrant Populations
Authors: Riner Mary E. 
Published: February 2013

AbstractThis case study describes how a community health nursing practicum course was redesigned to increase undergraduate students' knowledge of and interactions with local immigrant populations. The goal of this tailored practicum is to develop students' sense of global engagement while remaining in the local community. The GENE framework is applied to course planning, delivery, and evaluation of the experience. The key components of the GENE framework are organizational mission/course goals, global health core content, program characteristics, learner characteristics, reflection, and transformational learning. The practicum design, learning objectives, and community partnership development served to create a co‐learning environment. Use of an experiential education philosophy allowed the practicum to evolve as students, faculty, agency staff, and community residents learned together over the practicum. Students developed a more complex understanding of health and social conditions of immigrant populations. They moved from a primarily mono‐ to an increasingly multicultural orientation. The GENE model was useful in offering a globally focused learning experience within a local community.
Ring‐Opening Photoreactions of 5‐Methylcytosine with 3‐Mercaptopropionic Acid and Other Thiols
Authors: Shetlar Martin D. , Chung Janet 
Published: February 2013

AbstractThe photoproducts from reaction of thymine with cysteine, an amino acid containing a sulfhydryl group, have been studied in detail, whereas results of less extensive studies have been reported for the uracil–cysteine system. However, products arising from corresponding reactions of cytosine and related compounds with compounds containing a sulfhydryl group have not been similarly studied. We report here the results of our study of the photoreaction of 5‐methylcytosine (5MeCyt), a minor base occurring in mammalian DNA, with 3‐mercaptopropionic acid (3MP), a model compound for cysteine. We found that this reaction proceeds at pH 7 to yield N‐(N'‐(2′‐carboxyethyl)thiocarbamoyl)‐3‐amino‐2‐methylacrylamidine (Ia) as a primary photoproduct. A secondary thermal product, identified as 3‐(2′‐carboxyethylthio)‐2‐methylacrylamidine (IIa), appears if photoreacted solution is allowed to stand for appreciable times prior to workup; this latter compound is formed via an intermediate product. Heating of purified Ia at 100°C or standing at lower temperatures produces 3‐amino‐2‐methylacrylamidine (IId); similarly, irradiation of Ia with UVB light in aqueous solution converts it into IId. Results from exploratory studies suggest that 5MeCyt similarly reacts with other thiols (2‐mercaptoethanol, 2‐mercaptoacetic acid) to form analogs of Ia and IIa. Other preliminary results suggest that 5‐methyl‐2′‐deoxycytidine and 1,5‐dimethylcytosine photoreact with 3MP to form compounds similar to Ia.
Using an Electronic Self‐Management Tool to Support Patients with Chronic Kidney Disease (CKD): A CKD Clinic Self‐Care Model
Authors: Ong Stephanie W. , Jassal Sarbjit V. , Porter Eveline , Logan Alexander G. , Miller Judith A. 
Published: February 2013

AbstractNew healthcare delivery models are needed to enhance the patient experience and improve quality of care for individuals with chronic conditions such as kidney disease. One potential avenue is to implement self‐management strategies. There is growing evidence that self‐management interventions help optimize various aspects of chronic disease management. With the increasing use of information technology (IT) in health care, chronic disease management programs are incorporating IT solutions to support patient self‐management practices. IT solutions have the ability to promote key principles of self‐management, namely education, empowerment, and collaboration. Positive clinical outcomes have been demonstrated for a number of chronic conditions when IT solutions were incorporated into self‐management programs. There is a paucity of evidence for self‐management in chronic kidney disease (CKD) patients. Furthermore, IT strategies have not been tested in this patient population to the same extent as other chronic conditions (e.g., diabetes, hypertension). Therefore, it is currently unknown if IT strategies will promote self‐management behaviors and lead to improvements in overall patient care. We designed and developed an IT solution called My KidneyCare Centre to support self‐management strategies for patients with CKD. In this review, we discuss the rationale and vision of incorporating an electronic self‐management tool to support the care of patients with CKD.
Bridging the Gap: Innovative Approaches to Continuing Education in Rural, Remote, and Isolated First Nation Communities
Authors: Scott Tracy , Menzies Cynthia , Chenard Glen , Spence Melissa 
Published: February 2013

AbstractAccess to education, communication, and support is essential for achieving and maintaining a skilled healthcare workforce. Delivering affordable and accessible continuing education for healthcare providers in rural, remote, and isolated First Nation communities is challenging due to barriers such as geography, isolation, costs, and staff shortages. The innovative use of technology, such as on‐line courses and webinars, will be presented as a highly effective approach to increase access to continuing education for healthcare providers in these settings. A case study will be presented demonstrating how a national, not‐for‐profit health care organization has partnered with healthcare providers in these communities to support care at the local level through various technology‐based knowledge exchange activities.
Prognostic factors and outcome of Epstein–Barr virus DNAemia in high‐risk recipients of allogeneic stem cell transplantation treated with preemptive rituximab
Authors: Patriarca F. , Medeot M. , Isola M. , Battista M.L. , Sperotto A. , Pipan C. , Toffoletti E. , Dozzo M. , Michelutti A. , Gregoraci G. , Geromin A. , Cerno M. , Savignano C. , Rinaldi C. , Barbone F. , Fanin R. 
Published: February 2013

AbstractAims and methodsThis study assessed incidence, predictive factors, and outcome of Epstein–Barr virus (EBV) DNAemia in 100 recipients of allogeneic hematopoietic stem cell transplant. A total of 68 patients received anti‐thymocyte globulin before unrelated grafts.ResultsCumulative incidence of high‐load EBV DNAemia defined by levels >10,000 copies/mL was 14% at 12 months. In multivariate analysis, a CD4+ T‐lymphocyte count >50 μL at day +30 was the only factor significantly associated with a reduced risk of high‐load EBV DNAemia. Thirteen of 16 patients with high viral loads were preemptively treated with rituximab and achieved EBV DNA negativity. Three patients had already developed post‐transplant lymphoproliferative disorder (PTLD) at the time of detection of high EBV DNA loads, and they obtained complete response after rituximab infusions and chemotherapy. Patients with high EBV DNA load had a significantly higher transplant‐related mortality (TRM) compared with patients with negative or low viral load (54% vs. 16%, P = 0.009) and a trend to lower overall survival (55% vs. 29%, P = 0.060).ConclusionWe conclude that CD4+ cell count at day +30 is a predictive factor for EBV DNAemia and may help identify patients requiring closer monitoring. Although only 3% of patients progressed to PTLD and were all successfully managed, EBV reactivation was associated with higher TRM, mainly because of infections.
Ascorbic acid improves membrane fragility and decreases haemolysis during red blood cell storage
Authors: Raval J. S. , Fontes J. , Banerjee U. , Yazer M. H. , Mank E. , Palmer A. F. 
Published: February 2013

SummaryBackgroundChanges that occur to red blood cells (RBCs) during routine blood bank storage include decreased deformability, increased haemolysis and oxidative damage. Oxidative injury to the RBC membrane and haemoglobin can affect changes in shape and deformability. Ascorbic acid (AA) is an antioxidant that maintains haemoglobin in a reduced state and minimises RBC oxidative injury. We hypothesised that AA would improve membrane fragility and decrease haemolysis during storage.MethodsWhole blood derived, AS‐5 preserved, pre‐storage leucoreduced RBC units were exposed to either AA or saline control solutions. Several rheological and biochemical parameters were measured serially during storage, including RBC membrane mechanical fragility, percent haemolysis and methaemoglobin levels.ResultsAA exposure significantly reduced mechanical fragility and haemolysis over the entire storage period. The highest two concentrations of AA affected the greatest reductions in mechanical fragility and percent haemolysis. Addition of AA to the RBCs did not significantly alter their biochemical parameters compared to control RBCs incubated with saline.ConclusionAA reduced RBC membrane fragility and decreased haemolysis during storage without adversely affecting other RBC biochemical parameters. The clinical significance of these findings needs to be determined.
The metabolic flux phenotype of heterotrophic Arabidopsis cells reveals a complex response to changes in nitrogen supply
Authors: Masakapalli Shyam K. , Kruger Nicholas J. , Ratcliffe R. George 
Published: February 2013

SummaryThe extent to which individual plants utilise nitrate and ammonium, the two principal nitrogen sources in the rhizosphere, is variable and many species require a balance between the two forms for optimal growth. The effects of nitrate and ammonium on gene expression, enzyme activity and metabolite composition have been documented extensively with the aim of understanding the way in which plant cells respond to the different forms of nitrogen, but ultimately the impact of these changes on the organisation and operation of the central metabolic network can only be addressed by analysing the fluxes supported by the network. Accordingly steady‐state metabolic flux analysis was used to define the metabolic phenotype of a heterotrophic Arabidopsis thaliana cell culture grown in Murashige and Skoog and ammonium‐free media, treatments that influenced growth and biomass composition. Fluxes through the central metabolic network were deduced from the redistribution of label into metabolic intermediates and end products observed when cells were labelled with [1‐13C]‐, [2‐13C]‐ or [13C6]glucose, in tandem with 14C‐measurements of the net accumulation of biomass. Analysis of the flux maps showed that: (i) flux through the oxidative pentose phosphate pathway varied independently of the reductant demand for biosynthesis, (ii) non‐plastidic processes made a significant and variable contribution to the provision of reducing power for the plastid, and (iii) the inclusion of ammonium in the growth medium increased cell maintenance costs, in agreement with the futile cycling model of ammonium toxicity. These conclusions highlight the complexity of the metabolic response to a change in nitrogen nutrition.