bluuebunny/crossref_metadata_2025_split huggingface dataset:
Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD)
Authors: Torniainen Suvi , Freddara Roberta , Routi Taina , Gijsbers Carolien , Catassi Carlo , Höglund Pia , Savilahti Erkki , Järvelä Irma 
Published: February 2009

Abstract

Background
Congenital lactase deficiency (CLD) is a severe gastrointestinal disorder of newborns. The diagnosis is challenging and based on clinical symptoms and low lactase activity in intestinal biopsy specimens. The disease is enriched in Finland but is also present in other parts of the world. Mutations encoding the lactase (LCT) gene have recently been shown to underlie CLD. The purpose of this study was to identify new mutations underlying CLD in patients with different ethnic origins, and to increase awareness of this disease so that the patients could be sought out and treated correctly.

Methods
Disaccharidase activities in intestinal biopsy specimens were assayed and the coding region of LCT was sequenced from five patients from Europe with clinical features compatible with CLD. In the analysis and prediction of mutations the following programs: ClustalW, Blosum62, PolyPhen, SIFT and Panther PSEC were used.

Results
Four novel mutations in the LCT gene were identified. A single nucleotide substitution leading to an amino acid change S688P in exon 7 and E1612X in exon 12 were present in a patient of Italian origin. Five base deletion V565fsX567 leading to a stop codon in exon 6 was found in one and a substitution R1587H in exon 12 from another Finnish patient. Both Finnish patients were heterozygous for the Finnish founder mutation Y1390X. The previously reported mutation G1363S was found in a homozygous state in two siblings of Turkish origin.

Conclusion
This is the first report of CLD mutations in patients living outside Finland. It seems that disease is more common than previously thought. All mutations in the LCT gene lead to a similar phenotype despite the location and/or type of mutation.
Gene expression profiling of alveolar soft-part sarcoma (ASPS)
Authors: Stockwin Luke H , Vistica David T , Kenney Susan , Schrump David S , Butcher Donna O , Raffeld Mark , Shoemaker Robert H 
Published: February 2009

Abstract

Background
Alveolar soft-part sarcoma (ASPS) is an extremely rare, highly vascular soft tissue sarcoma affecting predominantly adolescents and young adults. In an attempt to gain insight into the pathobiology of this enigmatic tumor, we performed the first genome-wide gene expression profiling study.

Methods
For seven patients with confirmed primary or metastatic ASPS, RNA samples were isolated immediately following surgery, reverse transcribed to cDNA and each sample hybridized to duplicate high-density human U133 plus 2.0 microarrays. Array data was then analyzed relative to arrays hybridized to universal RNA to generate an unbiased transcriptome. Subsequent gene ontology analysis was used to identify transcripts with therapeutic or diagnostic potential. A subset of the most interesting genes was then validated using quantitative RT-PCR and immunohistochemistry.

Results
Analysis of patient array data versus universal RNA identified elevated expression of transcripts related to angiogenesis (ANGPTL2, HIF-1 alpha, MDK, c-MET, VEGF, TIMP-2), cell proliferation (PRL, IGFBP1, NTSR2, PCSK1), metastasis (ADAM9, ECM1, POSTN) and steroid biosynthesis (CYP17A1 and STS). A number of muscle-restricted transcripts (ITGB1BP3/MIBP, MYF5, MYF6 and TRIM63) were also identified, strengthening the case for a muscle cell progenitor as the origin of disease. Transcript differentials were validated using real-time PCR and subsequent immunohistochemical analysis confirmed protein expression for several of the most interesting changes (MDK, c-MET, VEGF, POSTN, CYP17A1, ITGB1BP3/MIBP and TRIM63).

Conclusion
Results from this first comprehensive study of ASPS gene expression identifies several targets involved in angiogenesis, metastasis and myogenic differentiation. These efforts represent the first step towards defining the cellular origin, pathogenesis and effective treatment strategies for this atypical malignancy.
Lower extremity joint kinetics and lumbar curvature during squat and stoop lifting
Authors: Hwang Seonhong , Kim Youngeun , Kim Youngho 
Published: February 2009

Abstract

Background
In this study, kinematics and kinetics of the lower extremity joint and the lumbar lordosis during two different symmetrical lifting techniques(squat and stoop) were examined using the three-dimensional motion analysis.

Methods
Twenty-six young male volunteers were selected for the subjects in this study. While they lifted boxes weighing 5, 10 and 15 kg by both squat and stoop lifting techniques, their motions were captured and analyzed using the 3D motion analysis system which was synchronized with two forceplates and the electromyographic system. Joint kinematics was determined by the forty-three reflective markers which were attached on the anatomical locations based on the VICON Plug-in-Gait marker placement protocol. Joint kinetics was analyzed by using the inverse dynamics. Paired t-test and Kruskal-Wallis test was used to compare the differences of variables between two techniques, and among three different weights. Correlation coefficient was calculated to explain the role of lower limb joint motion in relation to the lumbar lordosis.

Results
There were not significant differences in maximum lumbar joint moments between two techniques. The hip and ankle contributed the most part of the support moment during squat lifting, and the knee flexion moment played an important role in stoop lifting. The hip, ankle and lumbar joints generated power and only the knee joint absorbed power in the squat lifting. The knee and ankle joints absorbed power, the hip and lumbar joints generated power in the stoop lifting. The bi-articular antagonist muscles' co-contraction around the knee joint during the squat lifting and the eccentric co-contraction of the gastrocnemius and the biceps femoris were found important for maintaining the straight leg during the stoop lifting. At the time of lordotic curvature appearance in the squat lifting, there were significant correlations in all three lower extremity joint moments with the lumbar joint. Differently, only the hip moment had significant correlation with the lumbar joint in the stoop lifting.

Conclusion
In conclusion, the knee extension which is prominent kinematics during the squat lifting was produced by the contributions of the kinetic factors from the hip and ankle joints(extensor moment and power generation) and the lumbar extension which is prominent kinematics during the stoop lifting could be produced by the contributions of the knee joint kinetic factors(flexor moment, power absorption, bi-articular muscle function).
Mapping of IgE-binding regions on recombinant Cyn d 1, a major allergen from Bermuda Grass Pollen (BGP)
Authors: Tiwari Ruby , Bhalla Prem L , Singh Mohan B 
Published: February 2009

Abstract

Background
Bermuda grass (Cynodon dactylon; subfamily Chloridoideae) is an important source of seasonal aeroallergens in warm tropical and sub-tropical areas worldwide. Improved approaches to diagnosis and therapy of allergic diseases require a thorough understanding of the structure and epitopes on the allergen molecule that are crucial for the antigen-antibody interaction. This study describes the localization of the human IgE-binding regions of the major group 1 pollen allergen Cyn d 1 from Bermuda grass.

Methods
A cDNA library was constructed from Bermuda grass pollen (BGP) using a Lambda gt11 expression vector. The gene encoding the Cyn d 1 allergen was isolated by screening the library with a mouse monoclonal antibody raised against grass group 1 allergen. In order to characterize the IgE epitopes on Cyn d 1, seven overlapping fragments and three deletion mutants were cloned and over-expressed in E. coli. The recombinant fragments and deletion mutants were evaluated for their comparative IgE reactivity with sera of non atopic individuals and grass pollen allergic patients by ELISA and a dot-blot assay.

Results
Analysis of IgE binding regions by overlapping fragments and deletion mutants identified two major allergenic regions corresponding to amino acids 120–170 and 224–244. Deletion of either or both regions led to a significant reduction in IgE binding, emphasizing the importance of the C-terminal region on Cyn d 1 in epitope-IgE interaction.

Conclusion
Anti-Cyn d 1 IgE antibodies from allergic human sera recognize two epitopes located at the C-terminal end of the molecule. These data will enable the design of improved diagnostic and therapeutic approaches for BGP hypersensitivity.
A child presenting with acute renal failure secondary to a high dose of indomethacin: a case report
Authors: González Felipe , López-Herce Jesús , Moraleda Cinta 
Published: February 2009

Abstract

Introduction
Acute renal failure caused by nonsteroidal anti-inflammatory drugs administered at therapeutic doses is generally mild, non-anuric and transitory. There are no publications on indomethacin toxicity secondary to high doses in children. The aim of this article is to describe acute renal failure secondary to a high dose of indomethacin in a child and to review an error in a supervised drug prescription and administration system.

Case presentation
Due to a medication error, a 20-day-old infant in the postoperative period of surgery for Fallot's tetralogy received a dose of 10 mg/kg of indomethacin, 50 to 100 times higher than the therapeutic dose. The child presented with acute, oligo-anuric renal failure requiring treatment with continuous venovenous renal replacement therapy, achieving complete recovery of renal function with no sequelae.

Conclusion
In order to reduce medication errors in critically ill children, it is necessary to develop a supervised drug prescription and administration system, with controls at various levels.
Electrical wire as a foreign body in a male urethra: a case report
Authors: Stravodimos Konstantinos G , Koritsiadis Georgios , Koutalellis Georgios 
Published: February 2009

Abstract

Introduction
Self-inflicted foreign bodies in the male urethra and urinary bladder are an emergency that urologists may rarely have to face. A case of an electrical wire inserted in the male urethra and coiled in the bladder is presented.

Case presentation
A 53-year-old male presented with the inability to void and bloody urethral discharge after having introduced an electrical wire in his urethra for masturbation 3 hours earlier. He had made several unsuccessful attempts to remove it.

Conclusion
The variety of these objects may be impressive and removal of the foreign body may be quite challenging requiring imagination and high-level surgical skills., In this case an electrical wire was used and the diagnostic as well as the therapeutic steps for its removal are presented.
Is psychiatric emergency service (PES) use increasing over time?
Authors: Paradis Michel , Woogh Carolyn , Marcotte Dany , Chaput Yves 
Published: February 2009

Abstract

Background
Several recent studies have reported a significant increase in medical emergency department (ED) use for reasons of mental health. The diagnostic profile of these patients however differs from that usually described for patients visiting the psychiatric emergency service (PES). Few studies have specifically focused upon long-term PES utilization rates. Those that do typically present data from the early 80s, suggesting that deinstitutionalization may be an important contributing factor to the increases found. The aim of this study was to assess PES use using a more recent time frame and, the effects of non-specific factors, such as population growth, on this use.

Methods
Visits per year at several different types of PESs were obtained; (a) for an 11-year period at a general hospital PES while the surrounding population remained stable, (b) at that same PES while the catchment area population doubled over a period of a few years, (c) for an 11-year period at two PESs without catchment areas while the surrounding population increased and (d-) for a 12-year period at a PES in a mental health facility while the surrounding population increased. Moderately conservative criteria were used to define either a trend or, a significant increase in utilization rates.

Results
Each site had an inherent, 7 to 15% yearly variability in the number of PES visits. Over time however, only those where the surrounding population increased (either by an increase in the catchment area size or a regional increase in the population census) showed a trend or, a significant increase in utilization rates. These increases however were modest and of the order of 12 to 19%.

Conclusion
Long observation periods are required in order to detect stable changes in PES utilization rates over time. As such, population growth may be but one of several factors underlying these increases. Organizational changes in mental health care delivery in the vicinity of the services that showed an increase could also have contributed. These latter would simply have redistributed (to the PES) the pre existing pool of mental health care patients, resulting in an increase that is more apparent than real.
Radiation produces differential changes in cytokine profiles in radiation lung fibrosis sensitive and resistant mice
Authors: Ao Xiaoping , Zhao Lujun , Davis Mary A , Lubman David M , Lawrence Theodore S , Kong Feng-Ming 
Published: February 2009

AbstractBackgroundRecent research has supported that a variety of cytokines play important roles during radiation-induced lung toxicity. The present study is designed to investigate the differences in early cytokine induction after radiation in sensitive (C57BL/6) and resistant mice (C3H).ResultsTwenty-two cytokines in the lung tissue homogenates, bronchial lavage (BAL) fluids, and serum from 3, 6, 12, 24 hrs to 1 week after 12 Gy whole lung irradiation were profiled using a microsphere-based multiplexed cytokine assay. The majority of cytokines had similar baseline levels in C57BL/6 and C3H mice, but differed significantly after radiation. Many, including granulocyte colony-stimulating factor (G-CSF), interleukin-6 (IL-6), and keratinocyte-derived chemokine (KC) were elevated significantly in specimens from both strains. They usually peaked at about 3–6 hrs in C57BL/6 and 6–12 hrs in C3H. At 6 hrs in lung tissue, G-CSF, IL-6, and KC increased 6, 8, and 11 fold in C57BL/6 mice, 4, 3, and 3 fold in the C3H mice, respectively. IL-6 was 10-fold higher at 6 hrs in the C57BL/6 BAL fluid than the C3H BAL fluid. MCP-1, IP-10, and IL-1α also showed some differences between strains in the lung tissue and/or serum. For the same cytokine and within the same strain of mice, there were significant linear correlations between lung tissue and BAL fluid levels (R2ranged 0.46–0.99) and between serum and tissue (R2ranged 0.56–0.98).ConclusionRadiation induced earlier and greater temporal changes in multiple cytokines in the pulmonary fibrosis sensitive mice. Positive correlation between serum and tissue levels suggests that blood may be used as a surrogate marker for tissue.
Characteristics of Epstein-Barr virus-associated gastric cancer: A study of 235 cases at a comprehensive cancer center in U.S.A
Authors: Truong Camtu D , Feng Wei , Li Wei , Khoury T , Li Q , Alrawi S , Yu Yingyan , Xie Keping , Yao James , Tan Dongfeng 
Published: February 2009

Abstract

Background
Epstein-Barr virus (EBV) has been shown to be associated with gastric cancer. However, inconsistent findings have been reported regarding the distribution of EBV infected cells (in normal gastric epithelium vs. intestinal metaplastic cells vs. in neoplastic cells) and the characteristics of EBV-associated gastric cancer. Lymph node positive EBV-associated gastric cancer has not been systematically studied. The aims of this study were to evaluate EBV-associated gastric cancer, to assess the distribution of EBV infected cells including all positive lymph nodes, and to define the characteristics of EBV-associated gastric cancer.

Design
The study included primary gastric cancer patients who underwent surgical resection with no preoperative treatment at M.D. Anderson Cancer Center between 1987 and 2006. Formalin-fixed paraffin-embedded tissue from these resection specimens were assessed for EBV by in situ hybridization, the gold standard for EBV detection in tissue. EBV status was analyzed along with clinicopathologic parameters including age, gender, tumor type, lymph node status, and pathologic stage of the tumor.

Results
Among 235 patients, 12 had intranuclear expression of EBV. EBV staining was seen only in tumor cells and no detectable EBV was observed in normal gastric mucosa, intestinal metaplasia or stromal cells. Eight of 12 patients with EBV-associated gastric cancer had regional lymph node metastasis. Of note, metastatic tumor cells in all of the involved lymph nodes of these 8 cases contained EBV. The epidemiologic data showed 11 of the 12 patients with EBV-associated gastric cancer were men, ranging in age from 54 to 78 years (mean age, 60 years; median age, 62.1 years). The age distribution for non-EBV associated gastric cancer patients ranged from 21 to 93 years (mean age, 67 years; median age, 66.4 years).

Conclusion
Our study demonstrated that EBV is present exclusively in gastric cancer cells. The detection of EBV in tumor cells in all of the lymph nodes involved with metastatic gastric carcinoma suggests simultaneous replication of EBV and tumor cells. The predominantly male gender and relatively younger age observed for the EBV-infected gastric cancer cases suggest an association between this disease and other factors, such as life style.
Dental root canal treatment complicated by foreign body ingestion: a case report
Authors: Dhandapani Ramyia G , Kumar Susim , O'Donnell Mark E , McNaboe Ted , Cranley Brian , Blake Geoff 
Published: February 2009

Abstract

Introduction
Most foreign bodies pass through the gastrointestinal tract uneventfully. The majority of the reported literature describes the management of ingested blunt objects. However, ingestion of sharp objects can still occur with a higher rate of perforation corresponding to treatment dilemmas.

Case Presentation
We report the conservative management of an inadvertently ingested sharp foreign body during a routine dental procedure and describe a management strategy for the treatment of both blunt and sharp foreign bodies.

Conclusion
Urgent endoscopic assessment and retrieval is indicated when there is a history of a recently ingested sharp foreign body or if clinical suspicion suggests that the object is located within the oesophagus. Conservative management is advocated if the object has passed through the pylorus with serial clinical assessments including daily radiographs. Surgical intervention is warranted in the presence of obstruction, perforation or peritonitis.
Campylobacter jejuni induces transcellular translocation of commensal bacteria via lipid rafts
Authors: Kalischuk Lisa D , Inglis G Douglas , Buret Andre G 
Published: February 2009

Abstract

Background

Campylobacter enteritis represents a risk factor for the development of inflammatory bowel disease (IBD) via unknown mechanisms. As IBD patients exhibit inflammatory responses to their commensal intestinal microflora, factors that induce translocation of commensal bacteria across the intestinal epithelium may contribute to IBD pathogenesis. This study sought to determine whether Campylobacter induces translocation of non-invasive intestinal bacteria, and characterize underlying mechanisms.

Methods
Mice were infected with C. jejuni and translocation of intestinal bacteria was assessed by quantitative bacterial culture of mesenteric lymph nodes (MLNs), liver, and spleen. To examine mechanisms of Campylobacter-induced bacterial translocation, transwell-grown T84 monolayers were inoculated with non-invasive Escherichia coli HB101 ± wild-type Campylobacter or invasion-defective mutants, and bacterial internalization and translocation were measured. Epithelial permeability was assessed by measuring flux of a 3 kDa dextran probe. The role of lipid rafts was assessed by cholesterol depletion and caveolin co-localization.

Results

C. jejuni 81–176 induced translocation of commensal intestinal bacteria to the MLNs, liver, and spleen of infected mice. In T84 monolayers, Campylobacter-induced internalization and translocation of E. coli occurred via a transcellular pathway, without increasing epithelial permeability, and was blocked by depletion of epithelial plasma membrane cholesterol. Invasion-defective mutants and Campylobacter-conditioned cell culture medium also induced E. coli translocation, indicating that C. jejuni does not directly 'shuttle' bacteria into enterocytes. In C. jejuni-treated monolayers, translocating E. coli associated with lipid rafts, and this phenomenon was blocked by cholesterol depletion.

Conclusion

Campylobacter, regardless of its own invasiveness, promotes the translocation of non-invasive bacteria across the intestinal epithelium via a lipid raft-mediated transcellular process.
Survey of physician knowledge regarding antiretroviral medications in hospitalized HIV‐infected patients
Authors: Arshad Saarah , Rothberg Michael , Rastegar Darius A , Spooner Linda M , Skiest Daniel 
Published: February 2009

BackgroundAntiretroviral prescribing errors are common among hospitalized patients. Inadequate medical knowledge is likely one of the factors leading to these errors. Our objective was to determine the proportion of hospital physicians with knowledge gaps about prescribing antiretroviral medications for hospitalized HIV‐infected patients and to correlate knowledge with length and type of medical training and experience.MethodsWe conducted an electronic survey comprising of ten clinical scenarios based on antiretroviral‐prescribing errors seen at two community teaching hospitals. It also contained demographic questions regarding length and type of medical training and antiretroviral prescribing experience. Three hundred and forty three physicians at both hospitals were asked to anonymously complete the survey between February 2007 and April 2007.ResultsOne hundred and fifty‐seven physicians (46%) completed at least one question. The mean percentage of correct responses was 33% for resident physicians, 37% for attending physicians, and 93% for Infectious Diseases or HIV (ID/HIV) specialist physicians. Higher scores were independently associated with ID/HIV specialty, number of outpatients seen per month and physician reported comfort level in managing HIV patients (P < .001).ConclusionNon‐ID/HIV physicians had uniformly poor knowledge of common antiretroviral medication regimens. Involvement of ID/HIV specialists in the prescribing of antiretrovirals in hospitalized patients might mitigate prescribing errors stemming from knowledge deficits.