bluuebunny/crossref_metadata_2025_split huggingface dataset:
Manifestations and Evolution of Wilson Disease in Pediatric Patients Carrying ATP7B Mutation L708P
Authors: Peña‐Quintana Luis , García‐Luzardo María R. , García‐Villarreal Luis , Arias‐Santos María D. , Garay‐Sánchez Paloma , Santana Alfredo , González‐Santana Daniel , Ramos‐Varela Juan C. , Rial‐González Ramiro , Tugores Antonio 
Published: October 2011

ABSTRACTObjectives:The aim of the study was to characterize a group of 11 pediatric patients, ages 3 to 13 years, affected by Wilson disease (WD) in the island of Gran Canaria, Spain.Patients and Methods:Genetic, biochemical, and pathological features, together with their response to treatment and clinical evolution, have been analyzed for this group of patients.Results:Genetically, the group was rather homogeneous, with an extremely high prevalence of the L708P mutation (4 homozygotes and 5 heterozygotes). Despite being initially screened because of asymptomatic hypertransaminemia, all of the patients presented with some degree of liver damage that was never accompanied by any neurological manifestation. Hepatic damage was most severe in a compound heterozygote with a novel mutation, G1266W, affecting a motif in the ATP7B polypeptide that is greatly conserved in similar proteins among metazoans. Ceruloplasmin and copper serum levels, together with the determination of hepatic copper content, were found to be of great diagnostic value, whereas urine copper measurements were found to be much less conclusive. All of the patients responded well to treatment with D‐penicillamine with no documented adverse reactions.Conclusions:The patients in Gran Canaria constitute, overall, one of the largest groups of patients with WD with a high incidence of a single mutation, allowing us to define the early clinical symptoms and the evolution of the disease in patients carrying the ATP7B L708P mutant allele, and the study of WD in a genetically homogeneous background.
Widening Spectrum of Liver Angiosarcoma in Children
Authors: Ackermann Oanez , Fabre Monique , Franchi Stephanie , Pariente Daniele , Debray Dominique , Jacquemin Emmanuel , Gauthier Frederic , Bernard Olivier 
Published: October 2011

ABSTRACTObjectives:Liver hemangiomas are vascular tumors, which occur in the first months of life and carry risks of initial complications, but are considered to be benign histologically and to regress with time. Histologic studies suggest that a subtype, type 2 hemangioendothelioma, is akin to angiosarcoma and may have a severe long‐term prognosis. We report 5 girls with type 2 hemangioendothelioma of the liver.Methods and Results:Three children initially presented with classical infantile multinodular hemangioma, including cardiac and pulmonary complications and regression of tumors at age 1½ to 2½ years. All 3 experienced tumor relapse at ages 2½ to 3, leading to death at ages 2½ to 5. Tumor histology showed type 2 hemangioendothelioma. The other 2 children presented with liver tumors at ages 2 and 3 years. In 1, initial biopsy of a single tumor showed benign type 1 hemangioendothelioma, but surgical resection was followed by relapse in the remaining liver, lung metastases, and death. Whole tumor histology showed both type 1 and 2 lesions. In the other child, tumor biopsy showed type 2 lesions. She underwent liver transplantation and is alive without tumor recurrence 3 years later.Conclusions:Careful follow‐up is necessary to detect late recurrence in infants with multinodular liver hemangiomas. Vascular liver tumors occurring after infancy are likely to be malignant. The high risk of relapse in the remaining liver suggests that if no metastases are detected, liver transplantation is preferable to surgical tumor resection in both situations.
Toll‐like Receptor mRNA Expression in Liver Tissue From Patients With Biliary Atresia
Authors: Saito Takeshi , Hishiki Tomoro , Terui Keita , Mitsunaga Tetsuya , Terui Elena , Nakata Mitsuyuki , Yoshida Hideo 
Published: October 2011

ABSTRACTBackground and Aim:Inappropriate host immunological reactions against unknown ligands via the Toll‐like receptor (TLR) cascades may trigger progressive inflammatory biliary destruction that manifests as biliary atresia (BA) in newborns or infants. The aim of the study was to clarify the role of the innate immune system in the development of BA.Patients and Methods:Liver tissue was obtained from 49 patients with pediatric hepatobiliary diseases: 19 with BA, 21 with choledochal cysts, and 9 with other hepatobiliary diseases. BA samples obtained during the initial portoenterostomy and reoperation or liver transplantation (LT) were classified as early and late BA groups, respectively. Of the early BA group, those requiring LT were designated as the LT group, and the others were designated as the non‐LT group. The mRNA expression levels of TLRs 2, 3, 4, 7, and 8 were determined by real‐time quantitative reverse transcription‐polymerase chain reaction and were compared between groups. The correlation between TLR mRNA expression level and age at sampling was examined for each TLR in the patients with BA.Results:TLR8 mRNA, encoding the receptor for single‐stranded RNA, was significantly higher in the early BA group, compared with non‐BA groups (P = 0.008). Within the BA group, mRNA levels of TLRs 2 and 8 were significantly higher in the early group than in the late group (P = 0.02 and 0.006, respectively), despite there being no significant correlation between TLR mRNA expression and age at sampling, except for TLR7 (r = 0.77, P = 0.001). Compared with the non‐LT group, the LT group demonstrated significantly higher mRNA expression of TLRs 3 and 7 (P = 0.02 and 0.01, respectively).Conclusions:Innate immune responses may contribute to the initiation and progression of BA. Severe inflammation characteristic of BA around the time of the first operation may abate postoperatively, but determination of selected TLR mRNA expression levels in the liver at the time of Kasai portoenterostomy may assist in predicting the prognosis of patients with BA.
Bovine Lactoferrin Can Be Taken Up by the Human Intestinal Lactoferrin Receptor and Exert Bioactivities
Authors: Lönnerdal Bo , Jiang Rulan , Du Xiaou 
Published: October 2011

ABSTRACTObjective:Human lactoferrin (hLF), a major protein in human milk, has been shown to exert multiple biological activities. To achieve some of the benefits of breast‐fed infants, we investigated the feasibility of adding commercially available bovine LF (CbLF) to infant formula.Subjects and Methods:An intestinal enterocyte model (Caco‐2 cells) was used to compare the ability of bovine LF (bLF) purified by our laboratory and CbLF with hLF to resist digestion, bind to the receptor, and exert bioactivities, including cellular proliferation, differentiation, interleukin 18 secretion, and transforming growth factor‐β1 expression.Results:bLf and CbLF, which are partially iron (Fe)‐saturated, can bind additional Fe, partially resist digestion either dissolved in phosphate buffered saline or in the presence of infant formula at conditions similar to those of the infant gastrointestinal tract, and bind to Caco‐2 cells in a manner similar to hLF. bLF and CbLF, as well as bound Fe, also are internalized by Caco‐2 cells, as demonstrated by 125I and 59Fe labeling, albeit to somewhat less of an extent than hLF. CbLF promoted cell proliferation and differentiation to an extent similar to that of bLF and hLF, but these effects were not seen when the LF samples were saturated with Fe (holo‐LF). Native forms of hLF and bLF significantly increased expression of transforming growth factor‐β1, and holo‐forms of LFs stimulated interleukin 18 secretion significantly, with the highest results for CbLF.Conclusions:CbLF is biologically active and is likely to exert several of the bioactivities of hLF if added to infant formula.
Nutritional Strategy for Adolescents Undergoing Bariatric Surgery
Authors: Fullmer Michell A. , Abrams Stephanie H. , Hrovat Kathleen , Mooney Lori , Scheimann Ann O. , Hillman Jennifer B. , Suskind David L. 
Published: October 2011

ABSTRACTSurgical options for the treatment of adolescent obesity have been gaining popularity. Adolescent patients present a particular challenge to clinicians, secondary to age‐related issues, revolving around both mental and physical growth. These age‐related issues require a unique approach to nutritional intervention for adolescents undergoing bariatric surgery as opposed to standardized approaches for adults. Despite the increasing numbers of adolescents undergoing obesity surgery, evidence‐based nutritional guidelines have yet to be published. The goal of this document is to provide the clinician with recommendations on how to assess, educate, nourish, and monitor the adolescent who has undergone obesity surgery. A multidisciplinary panel composed of 3 pediatric gastroenterologists, 1 psychologist, and 3 registered dietitians from the Nutrition Committee for the North American Society of Pediatric Gastroenterology, Hepatology, and Nutrition and National Association of Children's Hospitals and Related Institutions, with experience in nutrition and adolescent weight loss surgery, reviewed the medical literature for evidence‐based practice for nutritional strategies for patients undergoing bariatric surgery. In addition to this group, an adolescent medicine physician was consulted for matters related to reproductive health. The present article presents a consensus of recommendations based on a review of the literature. In areas for which there was a lack of evidence to support the recommendations, best‐practice guidelines were used. The present article provides the clinician with an overview of the nutritional concerns for adolescent patients undergoing obesity surgery. These guidelines address the preoperative educational pathway, the postoperative diet progression, recognition of disordered eating, guidelines for female reproductive issues, and assistance for the adolescent in a school/college environment.
Caregiver Evaluation and Satisfaction With Autologous Bowel Reconstruction in Children With Short Bowel Syndrome
Authors: Edge Harriet , Hurrell Ruth , Bianchi Adrian , Carlson Gordon , Zaidi Taqi , Gozzini Sara , Khalil Basem A. , Morabito Antonino 
Published: October 2011

ABSTRACTBackground and Aims:Short bowel syndrome (SBS) describes the malabsorptive state seen following extensive bowel resection. Management aims to optimise nutritional intake, promote intestinal adaptation, and prevent the development of complications. Surgical options such as autologous gastrointestinal reconstruction (AGIR) attempt to restore enteral autonomy to the patient. Although the literature focuses on the objective measurements of success following AGIR techniques, subjective assessment of its effect on the quality of life (QoL) should also be sought. Because children with SBS are reliant on caregivers, caregivers' satisfaction with surgery and their perception of the effect of AGIR on their daily lives should be assessed. This is the first report of caregiver satisfaction following AGIR in children.Methods:All children with SBS who had AGIR between January 1999 and June 2010 were identified. A questionnaire was developed. Caregivers were asked to complete the questionnaire to rate their satisfaction with surgery and the pre‐ and postoperative daily care, medical needs, and subjective interpretation of QoL for their child. Data were analysed using SPSS version 18, using the Friedman nonparametric test and 2‐way analysis of variance by rank. Statistical significance was set at ≤0.05.Results:Thirty‐two children were identified. Seven assessments were done outside our centre (5 outside the UK) and were not included in the study. One patient moved to another city and was not contacted. Two children died. Twenty patients were contactable and were included in the present study. Parents were satisfied with the AGIR and saw improvements in their child's physical condition, bowel habit, and subjective interpretation of QoL postoperatively. Parents perceived significant improvements in the ease of caring and in aspects of their relationship with their child, including the quality of time spent, their enjoyment, and the level of their frustration with them.Conclusions:The present study found that AGIR improved the physical well‐being of the child and gave the impression of improvements on specific QoL aspects for both the child and the parents.
OsYSL6 Is Involved in the Detoxification of Excess Manganese in Rice
Authors: Sasaki Akimasa , Yamaji Naoki , Xia Jixing , Ma Jian Feng 
Published: October 2011

Abstract
Yellow Stripe-Like (YSL) proteins belong to the oligopeptide transporter family and have been implicated in metal transport and homeostasis in different plant species. Here, we functionally characterized a rice (Oryza sativa) YSL member, OsYSL6. Knockout of OsYSL6 resulted in decreased growth of both roots and shoots only in the high-manganese (Mn) condition. There was no difference in the concentration of total Mn and other essential metals between the wild-type rice and the knockout line, but the knockout line showed a higher Mn concentration in the leaf apoplastic solution and a lower Mn concentration in the symplastic solution than wild-type rice. OsYSL6 was constitutively expressed in both the shoots and roots, and the expression level was not affected by either deficiency or toxicity of various metals. Furthermore, the expression level increased with leaf age. Analysis with OsYSL6 promoter-green fluorescent protein transgenic rice revealed that OsYSL6 was expressed in all cells of both the roots and shoots. Heterogolous expression of OsYSL6 in yeast showed transport activity for the Mn-nicotianamine complex but not for the Mn-mugineic acid complex. Taken together, our results suggest that OsYSL6 is a Mn-nicotianamine transporter that is required for the detoxification of excess Mn in rice.
CD147‐targeting siRNA inhibits cell‐matrix adhesion of human malignant melanoma cells by phosphorylating focal adhesion kinase
Authors: NISHIBABA Rie , HIGASHI Yuko , SU Juan , FURUKAWA Tatsuhiko , KAWAI Kazuhiro , KANEKURA Takuro 
Published: October 2011

AbstractCD147/basigin, highly expressed on the surface of malignant tumor cells including malignant melanoma (MM) cells, plays a critical role in the invasiveness and metastasis of MM. Metastasis is an orchestrated process comprised of multiple steps including adhesion and invasion. Integrin, a major adhesion molecule, co‐localizes with CD147/basigin on the cell surface. Using the human MM cell line A375 that highly expresses CD147/basigin, we investigated whether CD147/basigin is involved in adhesion in association with integrin. CD147/basigin was knocked‐down using siRNA targeting CD147 to elucidate the role of CD147/basigin. Cell adhesion was evaluated by adhesion assay on matrix‐coated plates. The localization of integrin was inspected under a confocal microscope and the expression and phosphorylation of focal adhesion kinase (FAK), a downstream kinase of integrin, were examined by western blot analysis. Silencing of CD147/basigin in A375 cells by siRNA induced the phosphorylation of FAK at Y397. Integrin identified on the surface of parental cells was distributed in a speckled fashion in the cytoplasm of CD147 knockdown cells, resulting in morphological changes from a round to a polygonal shape with pseudopodial protrusions. Silencing of CD147/basigin in A375 cells clearly weakened their adhesiveness to collagen I and IV. Our results suggest that CD147/basigin regulates the adhesion of MM cells to extracellular matrices and of integrin β1 signaling via the phosphorylation of FAK.
Next‐generation sequencing and syntenic integration of flow‐sorted arms of wheat chromosome 4A exposes the chromosome structure and gene content
Authors: Hernandez Pilar , Martis Mihaela , Dorado Gabriel , Pfeifer Matthias , Gálvez Sergio , Schaaf Sebastian , Jouve Nicolás , Šimková Hana , Valárik Miroslav , Doležel Jaroslav , Mayer Klaus F.X. 
Published: October 2011

SummaryWheat is the third most important crop for human nutrition in the world. The availability of high‐resolution genetic and physical maps and ultimately a complete genome sequence holds great promise for breeding improved varieties to cope with increasing food demand under the conditions of changing global climate. However, the large size of the bread wheat (Triticum aestivum) genome (approximately 17 Gb/1C) and the triplication of genic sequence resulting from its hexaploid status have impeded genome sequencing of this important crop species. Here we describe the use of mitotic chromosome flow sorting to separately purify and then shotgun‐sequence a pair of telocentric chromosomes that together form chromosome 4A (856 Mb/1C) of wheat. The isolation of this much reduced template and the consequent avoidance of the problem of sequence duplication, in conjunction with synteny‐based comparisons with other grass genomes, have facilitated construction of an ordered gene map of chromosome 4A, embracing ≥85% of its total gene content, and have enabled precise localization of the various translocation and inversion breakpoints on chromosome 4A that differentiate it from its progenitor chromosome in the A genome diploid donor. The gene map of chromosome 4A, together with the emerging sequences of homoeologous wheat chromosome groups 4, 5 and 7, represent unique resources that will allow us to obtain new insights into the evolutionary dynamics between homoeologous chromosomes and syntenic chromosomal regions.
Health risks of using mothballs in Greater Accra, Ghana
Authors: Soghoian S. , Nyadedzor C. , Ed Nignpense B. , Clarke E. E. K. , Hoffman R. S. 
Published: October 2011

AbstractObjective  Internal use of ‘camphor’ is a potential public health concern in Accra. We sought to identify the toxins being sold as mothballs in Greater Accra and use this information to help educate both clinicians and the public.Methods  Mothballs are commonly sold by street and marketplace vendors in unmarked cling film‐wrapped packs. Fifteen small packs of mothballs were purchased from random vendors in three major markets and six roadside stands in Greater Accra. All samples were subjected to the float test; one sample was confirmed by gas chromatography/mass spectroscopy.Results  All samples sank in tap water but floated in a saturated salt solution, consistent with naphthalene. The analysed sample was identified as naphthalene.Conclusion  Naphthalene was most likely the primary ingredient in all the mothballs purchased for the study. Naphthalene is poorly soluble in water, and ‘camphor water’ is unlikely to cause harm. However, ideas about the efficacy of ‘camphor’ as a purification tool may lead to therapeutic misuse by analogy. A high prevalence of G6PD in the Ghanaian population may increase the risk of toxic haematologic effects from ingestion of mothballs. Mothballs known in Greater Accra as ‘camphor’ are likely to be predominantly naphthalene. A public awareness campaign about the health risks of mothball ingestion is planned.
Beyond cue reactivity: blunted brain responses to pleasant stimuli predict long‐term smoking abstinence
Authors: Versace Francesco , Lam Cho Y. , Engelmann Jeffrey M. , Robinson Jason D. , Minnix Jennifer A. , Brown Victoria L. , Cinciripini Paul M. 
Published: October 2011

ABSTRACTIdentifying addicts with higher risk of relapse would provide the opportunity to implement individualized interventions and increase cessation success rates. Unfortunately, the ability to predict the long‐term success of drug cessation treatments continues to elude researchers. We tested whether brain responses to emotional and cigarette‐related pictures were predictive of the ability to abstain from smoking. Smokers interested in quitting (n = 180) participated in a smoking cessation clinical trial. Before the initiation of any treatment, we recorded event‐related potentials (ERPs) evoked by emotional (both pleasant and unpleasant), neutral, and cigarette‐related images. Cluster analysis was used to assign smokers to two groups based on the amplitude of the late positive potential (LPP) to the experimental stimuli. While both groups showed enhanced responses to cigarette‐related cues, one group (n = 81) also showed blunted brain responses to intrinsically pleasant stimuli. Smokers in the latter group were significantly less likely to be abstinent at 10, 12 and 24 weeks after their quit date. In conclusion, using ERPs, a direct measure of brain activity, we found that smokers with blunted brain responses to intrinsically pleasant stimuli had lower rates of long‐term smoking abstinence. This response offers a new biomarker for identifying smokers at higher risk of relapse and for testing the efficacy of new interventions aimed at normalizing brain reward systems' responses to intrinsically pleasant stimuli.
Poor impulse control predicts inelastic demand for nicotine but not alcohol in rats
Authors: Diergaarde Leontien , van Mourik Yvar , Pattij Tommy , Schoffelmeer Anton N. M. , De Vries Taco J. 
Published: October 2011

ABSTRACTTobacco and alcohol dependence are characterized by continued use despite deleterious health, social and occupational consequences, implying that addicted individuals pay a high price for their use. In behavioral economic terms, such persistent consumption despite increased costs can be conceptualized as inelastic demand. Recent animal studies demonstrated that high‐impulsive individuals are more willing to work for nicotine or cocaine infusions than their low‐impulsive counterparts, indicating that this trait might be causally related to inelastic drug demand. By employing progressive ratio schedules of reinforcement combined with a behavioral economics approach of analysis, we determined whether trait impulsivity is associated with an insensitivity of nicotine or alcohol consumption to price increments. Rats were trained on a delayed discounting task, measuring impulsive choice. Hereafter, high‐ and low‐impulsive rats were selected and trained to nose poke for intravenous nicotine or oral alcohol. Upon stable self‐administration on a continuous reinforcement schedule, the price (i.e. response requirement) was increased. Demand curves, depicting the relationship between price and consumption, were produced using Hursh's exponential demand equation. Similar to human observations, nicotine and alcohol consumption in rats fitted this equation, thereby demonstrating the validity of our model. Moreover, high‐impulsive rats displayed inelastic nicotine demand, as their nicotine consumption was less sensitive to price increments as compared with that in low‐impulsive rats. Impulsive choice was not related to differences in alcohol demand elasticity. Our model seems well suited for studying nicotine and alcohol demand in rats and, as such, might contribute to our understanding of tobacco and alcohol dependence.