bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic Predisposition to Colorectal Cancer
Authors: Durno Carol A. , Gallinger Steven 
Published: July 2006

ABSTRACTColorectal cancer is rare in childhood. The 2 best characterized familial syndromes, hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) and familial adenomatous polyposis (FAP), are autosomal dominant inherited disorders. HNPCC is relevant to pediatric gastroenterology practice because children and adolescents with underlying colorectal cancer can have germ‐line mutations of mismatch repair genes. Recent attention has focused on characterizing genetic predisposition to attenuated FAP in individuals who do not have germ‐line mutations in the APC gene. The identification of a second mechanistic explanation called MYH‐associated polyposis (MAP), which is an autosomal‐recessive condition, has important implications for both screening and management strategies. Hereditary colorectal cancer including HNPCC, FAP, attenuated FAP and MYH‐associated polyposis in children are the subject of this review.
Variable Degree of Liver Involvement in Siblings With PiZZ Alpha‐1‐Antitrypsin Deficiency‐related Liver Disease
Authors: Hinds R. , Hadchouel A. , Shanmugham N.P. , Al‐Hussaini A. , Chambers S. , Cheeseman P. , Mieli‐Vergani G. , Hadžić N. 
Published: July 2006

ABSTRACTPiZZ alpha‐1‐antitrypsin deficiency is the commonest genetic cause of chronic liver disease, but only 10‐15% of PiZZ individuals develop liver disease in childhood. Studies have demonstrated varying patterns of disease progression within siblings with the PiZZ phenotype. We retrospectively analysed the case‐notes of all patients diagnosed with PiZZ A1ATD between 1978‐2002 and compared the pattern of liver disease between affected siblings. We identified 29 families with more than 1 child with the PiZZ phenotype. Twenty‐one (72%) PiZZ siblings of the 29 probands had liver disease, which was concordant for severity in 6 (29%), while 8 (28%) had no liver involvement. Five of 7 children requiring liver transplantation had siblings with no persistent liver dysfunction. This study suggests that there is a variable degree of liver involvement in siblings with PiZZ A1ATD‐related liver disease and environmental and/or other genetic factors must be involved in determining disease severity.
Treatment of Nonorganic Recurrent Abdominal Pain
Authors: Duarte Marco Antônio , Penna Francisco José , Andrade Eugênio Marcos Goulart , Cancela Camila Silva Peres , Neto Joaquim Caetano Aguirre , Barbosa Terezinha Facury 
Published: July 2006

ABSTRACTObjectives:We evaluated the efficacy of cognitive‐behavioral family intervention in the treatment of crises of pain in children with nonorganic recurrent abdominal pain (RAP) and the thresholds of pain for 17 body surface areas in these children.Methods:A randomized clinical trial was undertaken with 32 children between the ages of 5.1 and 13.9 years with nonorganic RAP. A group of 15 patients, aged 9.9 ± 2.2 years (11 girls), received standard pediatric care and cognitive‐behavioral family intervention for treatment of pain crises. The control group of 17 children, aged 8.4 ± 2.0 years (11 girls), received only standard pediatric care. These procedures were undertaken by general pediatricians over 4 monthly sessions. An analog visual scale was used to measure the frequency and intensity of the pain crises per month and a mechanical pressure algometer for the measurement of pain threshold.Results:The median frequency of pain crises per month reported by patients at the 3 monthly cognitive‐behavioral family intervention sessions was 15, 5, 2 and 2, respectively. In contrast, the median frequency for pain crises per month reported by the control group was 12, 8, 10 and 8, respectively. The difference between the intervention group and the controls was statistically significant for frequency of pain at the second, third and fourth visits. There was no statistical difference for intensity of pain or for measured pain thresholds between the control and the intervention group.Conclusions:The cognitive‐behavioral family intervention reduced the frequency of pain crises of children with nonorganic RAP. This successful intervention was carried out by the intervention of general pediatricians.
Treatment of Faecal Impaction with Polyethelene Glycol Plus Electrolytes (PGE + E) Followed by a Double‐blind Comparison of PEG + E Versus Lactulose as Maintenance Therapy
Authors: Candy David C.A. , Edwards Diane , Geraint Mike 
Published: July 2006

ABSTRACTObjectives:To assess the efficacy of polyethylene glycol 3350 plus electrolytes (PEG + E; Movicol®) as oral monotherapy in the treatment of faecal impaction in children, and to compare PEG + E with lactulose as maintenance therapy in a randomised trial.Patients and Methods:An initial open‐label study of PEG + E in the inpatient treatment of faecal impaction (phase 1), followed by a randomised, double‐blind comparison between PEG + E and lactulose for maintenance treatment of constipation over a 3‐month period (phase 2) in children aged 2 to 11 years with a clinical diagnosis of faecal impaction.Results:Disimpaction on PEG + E was achieved in 58 (92%) of 63 of children (89% of 2‐4 year olds and 94% of 5‐11 year olds) without additional interventions. A maximum dose of 4 sachets (for 2‐4 year olds) or 6 sachets (for 5‐11 year olds) was required; median time to disimpaction was 6 days (range, 3‐7 days). Seven children (23%) reimpacted whilst taking lactulose, whereas no children reimpacted while taking PEG + E (P = 0.011). The total incidence rate of adverse events seen was higher in the lactulose group (83%) than in the PEG + E group (64%).Conclusions:PEG + E is safe and highly effective in the management of childhood constipation. It allows a single orally administered laxative to be used for disimpaction without recourse to invasive interventions. It is significantly more effective than lactulose as maintenance therapy, both in efficacy in treating constipation and efficacy in preventing the recurrence of faecal impaction.
Bifidobacterium Breve Enhances Transforming Growth Factor β1 Signaling by Regulating Smad7 Expression in Preterm Infants
Authors: Fujii Tohru , Ohtsuka Yoshikazu , Lee Tsubasa , Kudo Takahiro , Shoji Hiromichi , Sato Hiroaki , Nagata Satoru , Shimizu Toshiaki , Yamashiro Yuichiro 
Published: July 2006

ABSTRACTObjectives:Transforming growth factor (TGF) β1 displays a broad spectrum of activities in mucosal regulation, including induction of oral tolerance, potent anti‐inflammatory effects, mucosal IgA expression and effects on epithelial cell proliferation and differentiation. The present study examined the effect of probiotics on the immunologic system of preterm infants in relation to TGF‐β signaling.Methods:Subjects comprised 19 preterm infants divided into 2 groups: receiving Bifidobacterium breve supplementation (B. breve group) and without supplementation (controls). Blood samples were collected from both groups on days 0, 14 and 28 after birth. Serum cytokine levels were measured using enzyme‐linked immunosorbent assay, and expression levels of the TGF‐β signaling molecule, Smad, were examined using semiquantitative reverse transcriptase‐polymerase chain reaction.Results:Serum TGF‐β1 level was elevated on day 14 and remained elevated on day 28 in the B. breve group. Level of messenger RNA expression was enhanced for Smad3 and reduced for Smad7 (antagonistic Smad) after B. breve administration relative to levels in controls on day 28.Conclusions:These results demonstrated that the administration of B. breve to preterm infants can up‐regulate TGF‐β1 signaling and may possibly be beneficial in attenuating inflammatory and allergic reactions in these infants.
Nutritional Management of the Gluten‐free Diet in Young People with Celiac Disease in The Netherlands
Authors: Hopman Erica G.D. , le Cessie Saskia , von Blomberg B. Mary E. , Mearin M. Luisa 
Published: July 2006

ABSTRACTBackground:For young people with celiac disease, adherence to the gluten‐free diet may be difficult to achieve and gluten restriction may lead to insufficient nutrient intake and unbalanced food intake resulting in overweight. In The Netherlands, no nutritional information is available. Therefore, we evaluated the nutritional management and nutritional state in young celiac patients.Methods:The Dutch Celiac Society invited all its members aged 12 to 25 years to complete a food record and a questionnaire. Nutrient intakes were compared with the recommendations and the intake in the general population. Total immunoglobin A, endomysial antibody, tissue transglutaminase and IgA gliadin were determined, and height and weight were assessed.Results:Strict dietary compliance was reported by 75%. The fiber and iron intakes were significantly lower, and the saturated fat intake significantly higher than recommended but comparable with the general population. Most of the patients (61%) found the diet easy to follow. Regular medical controls were reported by 86% but regular dietary controls by only 7% of the patients. Mean and SD scores for height and body mass index were −0.3 ± 1.1 and −0.3 ± 0.8, respectively.Conclusions:The dietary compliance in this group is high, the nutritional state is adequate, but the nutrient intake is not. Better medical and dietary support is necessary to prevent long‐term complications and to achieve an ongoing satisfying management in this group of young patients with a chronic disorder.
Lectin‐reactive α‐Fetoprotein in Patients with Tyrosinemia Type I and Hepatocellular Carcinoma
Authors: Baumann Ulrich , Duhme Valeska , Auth Marcus K.H. , McKiernan Patrick J. , Holme Elisabeth 
Published: July 2006

ABSTRACTDespite the introduction of 2‐(2‐nitro‐4‐trifluormethyl‐benzoyl)‐1,3‐cyclohexandion into the treatment of hereditary tyrosinemia type I (HT1), patients remain at risk of developing hepatocellular carcinoma (HCC). Serial total α‐fetoprotein (AFP) levels are used to monitor the individual patient. Lectin‐reactive α‐fetoprotein (L3‐AFP) is an AFP isoform that is expressed by malignant liver tumors. We investigated whether the analysis of L3‐AFP could lead to earlier detection of HCC in HT1 compared with judgement based on total AFP alone. AFP electrophoresis using lectin‐containing agarose gel identifies L3‐AFP by the affinity of its specific carbohydrate chain to lectin. We report the retrospective analysis of sequential serum samples of 12 patients with HT1 and histologically proven HCC. AFP isoforms could be identified in all 12 patients. In 6 patients, the L3‐AFP increased before the total AFP. In 3 patients, the rise in L3‐AFP was parallel to the rise of total AFP; and in 3 patients, the L3‐AFP was raised after the total AFP or did not increase at all. We were able to identify 6 of 12 patients with an early increase in the new tumor marker. Lectin‐affinity electrophoresis may have a role in discriminating benign liver disease from HCC in HT1. We suggest the further evaluation of L3‐AFP in HT1.
Nutrition Support for Neurologically Impaired Children
Authors: Marchand Valerie , Motil Kathleen J. ,   NASPGHAN Committee on Nutrition
Published: July 2006

ABSTRACTUndernutrition, growth failure, overweight, micronutrient deficiencies, and osteopenia are nutritional comorbidities that affect the neurologically impaired child. Monitoring neurologically impaired children for nutritional comorbidities is an integral part of their care. Early involvement by a multidisciplinary team of physicians, nurses, dieticians, occupational and speech therapists, psychologists, and social workers is essential to prevent the adverse outcomes associated with feeding difficulties and poor nutritional status. Careful evaluation and monitoring of severely disabled children for nutritional problems are warranted because of the increased risk of nutrition‐related morbidity and mortality.
The Diagnostic Value of Serum Interleukins 6 and 8 in Children with Acute Gastroenteritis
Authors: Lin Chien‐Hung , Hsieh Chiea‐Chang , Chen Shu‐Jen , Wu Tzee‐Chung , Chung Ruey‐Lung , Tang Ren‐Bin 
Published: July 2006

ABSTRACTObjectives:Early identification of the pathogen causing acute gastroenteritis in children helps the physicians managing the disease and prevents unnecessary antibiotic treatment. C‐reactive protein (CRP), interleukin (IL) 6 and IL‐8 play a major role in immune responses and have been studied in a large number of infectious and noninfectious inflammatory diseases. The purpose of this study was to determine the serum IL‐6 and IL‐8 concentrations early in the course of acute gastroenteritis to see if these cytokines were useful diagnostic markers in differentiating viral from bacterial gastroenteritis.Methods:Interleukin 6, IL‐8 and CRP were measured in 18 patients with bacterial gastroenteritis, 21 patients with viral gastroenteritis and 17 healthy children.Results:Interleukin 6 and CRP concentrations in patients with bacterial gastroenteritis were significantly higher than those in patients with viral gastroenteritis and healthy controls (P < 0.001). IL‐8 concentrations in patients with viral and bacterial gastroenteritis were both increased and were not statistically different. IL‐6 and IL‐8 levels had diagnostic sensitivities of 79% and 50% and specificities of 86% and 67%, respectively. The combination of IL‐6 and CRP had a sensitivity of 94%, specificity of 71%, a positive predictive value of 74% and a negative predictive value of 93.75%.Conclusions:Serum IL‐6 may be a useful marker for early differentiation of viral and bacterial gastroenteritis in children, especially in combination with CRP.
Expression and Functional Analyses of the Plastid Lipid-Associated Protein CHRC Suggest Its Role in Chromoplastogenesis and Stress
Authors: Leitner-Dagan Yael , Ovadis Marianna , Shklarman Elena , Elad Yigal , Rav David Dalia , Vainstein Alexander 
Published: July 2006

Abstract
Chromoplastogenesis during flower development and fruit ripening involves the dramatic overaccumulation of carotenoids sequestered into structures containing lipids and proteins called plastid lipid-associated proteins (PAPs). CHRC, a cucumber (Cucumis sativus) PAP, has been suggested to be transcriptionally activated in carotenoid-accumulating flowers by gibberellin (GA). Mybys, a MYB-like trans-activator identified here, may represent a chromoplastogenesis-related factor: Its expression is flower specific and parallels that of ChrC during flower development; moreover, as revealed by stable ectopic and transient-expression assays, it specifically trans-activates ChrC promoter in flowers accumulating carotenoids and flavonoids. A detailed dissection of ChrC promoter revealed a GA-responsive element, gacCTCcaa, the mutation of which abolished ChrC activation by GA. This cis-element is different from the GARE motif and is involved in ChrC activation probably via negative regulation, similar to other GA-responsive systems. The GA responsiveness and MYBYS floral activation of the ChrC promoter do not overlap with respect to cis-elements. To study the functionality of CHRC, which is activated in vegetative tissues similar to other PAPs by various biotic and abiotic stresses, we employed a tomato (Lycopersicon esculentum) plant system and generated RNAi-transgenic lines with suppressed LeCHRC. Transgenic flowers accumulated approximately 30% less carotenoids per unit protein than controls, indicating an interrelationship between PAPs and flower-specific carotenoid accumulation in chromoplasts. Moreover, the transgenic LeCHRC-suppressed plants were significantly more susceptible to Botrytis cinerea infection, suggesting CHRC's involvement in plant protection under stress conditions and supporting the general, evolutionarily preserved role of PAPs.
Mutations in Arabidopsis Yellow Stripe-Like1 and Yellow Stripe-Like3 Reveal Their Roles in Metal Ion Homeostasis and Loading of Metal Ions in Seeds
Authors: Waters Brian M. , Chu Heng-Hsuan , DiDonato Raymond J. , Roberts Louis A. , Eisley Robynn B. , Lahner Brett , Salt David E. , Walker Elsbeth L. 
Published: July 2006

Abstract
Here, we describe two members of the Arabidopsis (Arabidopsis thaliana) Yellow Stripe-Like (YSL) family, AtYSL1 and AtYSL3. The YSL1 and YSL3 proteins are members of the oligopeptide transporter family and are predicted to be integral membrane proteins. YSL1 and YSL3 are similar to the maize (Zea mays) YS1 phytosiderophore transporter (ZmYS1) and the AtYSL2 iron (Fe)-nicotianamine transporter, and are predicted to transport metal-nicotianamine complexes into cells. YSL1 and YSL3 mRNAs are expressed in both root and shoot tissues, and both are regulated in response to the Fe status of the plant. β-Glucuronidase reporter expression, driven by YSL1 and YSL3 promoters, reveals expression patterns of the genes in roots, leaves, and flowers. Expression was highest in senescing rosette leaves and cauline leaves. Whereas the single mutants ysl1 and ysl3 had no visible phenotypes, the ysl1ysl3 double mutant exhibited Fe deficiency symptoms, such as interveinal chlorosis. Leaf Fe concentrations are decreased in the double mutant, whereas manganese, zinc, and especially copper concentrations are elevated. In seeds of double-mutant plants, the concentrations of Fe, zinc, and copper are low. Mobilization of metals from leaves during senescence is impaired in the double mutant. In addition, the double mutant has reduced fertility due to defective anther and embryo development. The proposed physiological roles for YSL1 and YSL3 are in delivery of metal micronutrients to and from vascular tissues.
Impaired Photosynthesis in Phosphatidylglycerol-Deficient Mutant of Cyanobacterium Anabaena sp. PCC7120 with a Disrupted Gene Encoding a Putative Phosphatidylglycerophosphatase
Authors: Wu Feng , Yang Zhenle , Kuang Tingyun 
Published: July 2006

Abstract
Phosphatidylglycerol (PG) is a ubiquitous phospholipid in thylakoid membranes of cyanobacteria and chloroplasts and plays an important role in the structure and function of photosynthetic membranes. The last step of the PG biosynthesis is dephosphorylation of phosphatidylglycerophosphate (PGP) catalyzed by PGP phosphatase. However, the gene-encoding PGP phosphatase has not been identified and cloned from cyanobacteria or higher plants. In this study, we constructed a PG-deficient mutant from cyanobacterium Anabaena sp. PCC7120 with a disrupted gene (alr1715, a gene for Alr1715 protein, GenBank accession no. BAB78081) encoding a putative PGP phosphatase. The obtained mutant showed an approximately 30% reduction in the cellular content of PG. Following the reduction in the PG content, the photoautotrophical growth of the mutant was restrained, and the cellular content of chlorophyll was decreased. The decreases in net photosynthetic and photosystem II (PSII) activities on a cell basis also occurred in this mutant. Simultaneously, the photochemical efficiency of PSII was considerably declined, and less excitation energy was transferred toward PSII. These findings demonstrate that the alr1715 gene of Anabaena sp. PCC7120 is involved in the biosynthesis of PG and essential for photosynthesis.
Overexpression of a Protein Phosphatase 2C from Beech Seeds in Arabidopsis Shows Phenotypes Related to Abscisic Acid Responses and Gibberellin Biosynthesis
Authors: Reyes David , Rodríguez Dolores , González-García Mary Paz , Lorenzo Oscar , Nicolás Gregorio , García-Martínez José Luis , Nicolás Carlos 
Published: July 2006

Abstract
A functional abscisic acid (ABA)-induced protein phosphatase type 2C (PP2C) was previously isolated from beech (Fagus sylvatica) seeds (FsPP2C2). Because transgenic work is not possible in beech, in this study we overexpressed this gene in Arabidopsis (Arabidopsis thaliana) to provide genetic evidence on FsPP2C2 function in seed dormancy and other plant responses. In contrast with other PP2Cs described so far, constitutive expression of FsPP2C2 in Arabidopsis, under the cauliflower mosaic virus 35S promoter, produced enhanced sensitivity to ABA and abiotic stress in seeds and vegetative tissues, dwarf phenotype, and delayed flowering, and all these effects were reversed by gibberellic acid application. The levels of active gibberellins (GAs) were reduced in 35S:FsPP2C2 plants, although transcript levels of AtGA20ox1 and AtGA3ox1 increased, probably as a result of negative feedback regulation, whereas the expression of GASA1 was induced by GAs. Additionally, FsPP2C2-overexpressing plants showed a strong induction of the Responsive to ABA 18 (RAB18) gene. Interestingly, FsPP2C2 contains two nuclear targeting sequences, and transient expression assays revealed that ABA directed this protein to the nucleus. Whereas other plant PP2Cs have been shown to act as negative regulators, our results support the hypothesis that FsPP2C2 is a positive regulator of ABA. Moreover, our results indicate the existence of potential cross-talk between ABA signaling and GA biosynthesis.
A Chromoplast-Specific Carotenoid Biosynthesis Pathway Is Revealed by Cloning of the Tomato white-flower Locus
Authors: Galpaz Navot , Ronen Gil , Khalfa Zehava , Zamir Dani , Hirschberg Joseph 
Published: July 2006

Abstract
Carotenoids and their oxygenated derivatives xanthophylls play essential roles in the pigmentation of flowers and fruits. Wild-type tomato (Solanum lycopersicum) flowers are intensely yellow due to accumulation of the xanthophylls neoxanthin and violaxanthin. To study the regulation of xanthophyll biosynthesis, we analyzed the mutant white-flower (wf). It was found that the recessive wf phenotype is caused by mutations in a flower-specific β-ring carotene hyroxylase gene (CrtR-b2). Two deletions and one exon-skipping mutation in different CrtR-b2 wf alleles abolish carotenoid biosynthesis in flowers but not leaves, where the homologous CrtR-b1 is constitutively expressed. A second β-carotene hydroxylase enzyme as well as flower- and fruit-specific geranylgeranyl diphosphate synthase, phytoene synthase, and lycopene β-cyclase together define a carotenoid biosynthesis pathway active in chromoplasts only, underscoring the crucial role of gene duplication in specialized plant metabolic pathways. We hypothesize that this pathway in tomato was initially selected during evolution to enhance flower coloration and only later recruited to enhance fruit pigmentation. The elimination of β-carotene hydroxylation in wf petals results in an 80% reduction in total carotenoid concentration, possibly caused by the inability of petals to store high concentrations of carotenoids other than xanthophylls and by degradation of β-carotene, which accumulates as a result of the wf mutation but is not due to altered expression of genes in the biosynthetic pathway.