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Sample records for hgps patients including

  1. Antisense-Based Progerin Downregulation in HGPS-Like Patients’ Cells

    Directory of Open Access Journals (Sweden)

    Karim Harhouri

    2016-07-01

    Full Text Available Progeroid laminopathies, including Hutchinson-Gilford Progeria Syndrome (HGPS, OMIM #176670, are premature and accelerated aging diseases caused by defects in nuclear A-type Lamins. Most HGPS patients carry a de novo point mutation within exon 11 of the LMNA gene encoding A-type Lamins. This mutation activates a cryptic splice site leading to the deletion of 50 amino acids at its carboxy-terminal domain, resulting in a truncated and permanently farnesylated Prelamin A called Prelamin A Δ50 or Progerin. Some patients carry other LMNA mutations affecting exon 11 splicing and are named “HGPS-like” patients. They also produce Progerin and/or other truncated Prelamin A isoforms (Δ35 and Δ90 at the transcriptional and/or protein level. The results we present show that morpholino antisense oligonucleotides (AON prevent pathogenic LMNA splicing, markedly reducing the accumulation of Progerin and/or other truncated Prelamin A isoforms (Prelamin A Δ35, Prelamin A Δ90 in HGPS-like patients’ cells. Finally, a patient affected with Mandibuloacral Dysplasia type B (MAD-B, carrying a homozygous mutation in ZMPSTE24, encoding an enzyme involved in Prelamin A maturation, leading to accumulation of wild type farnesylated Prelamin A, was also included in this study. These results provide preclinical proof of principle for the use of a personalized antisense approach in HGPS-like and MAD-B patients, who may therefore be eligible for inclusion in a therapeutic trial based on this approach, together with classical HGPS patients.

  2. Pluripotent stem cells to model Hutchinson-Gilford progeria syndrome (HGPS): Current trends and future perspectives for drug discovery.

    Science.gov (United States)

    Lo Cicero, Alessandra; Nissan, Xavier

    2015-11-01

    Progeria, or Hutchinson-Gilford progeria syndrome (HGPS), is a rare, fatal genetic disease characterized by an appearance of accelerated aging in children. This syndrome is typically caused by mutations in codon 608 (p.G608G) of the LMNA, leading to the production of a mutated form of lamin A precursor called progerin. In HGPS, progerin accumulates in cells causing progressive molecular defects, including nuclear shape abnormalities, chromatin disorganization, damage to DNA and delays in cell proliferation. Here we report how, over the past five years, pluripotent stem cells have provided new insights into the study of HGPS and opened new original therapeutic perspectives to treat the disease.

  3. Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford progeria syndrome (HGPS.

    Directory of Open Access Journals (Sweden)

    Martina Plasilova

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS is a genetic disorder displaying features reminiscent of premature senescence caused by germline mutations in the LMNA gene encoding lamin A and C, essential components of the nuclear lamina. By studying a family with homozygous LMNA mutation (K542N, we showed that HGPS can also be caused by mutations affecting both isoforms, lamin A and C. Here, we aimed to elucidate the molecular mechanisms underlying the pathogenesis in both, lamin A- (sporadic and lamin A and C-related (hereditary HGPS. For this, we performed detailed molecular studies on primary fibroblasts of hetero- and homozygous LMNA K542N mutation carriers, accompanied with clinical examinations related to the molecular findings. By assessing global gene expression we found substantial overlap in altered transcription profiles (13.7%; 90/657 in sporadic and hereditary HGPS, with 83.3% (75/90 concordant and 16.7% (15/90 discordant transcriptional changes. Among the concordant ones we observed down-regulation of TWIST2, whose inactivation in mice and humans leads to loss of subcutaneous fat and dermal appendages, and loss of expression in dermal fibroblasts and periadnexial cells from a LMNA(K542N/K542N patient further confirming its pivotal role in skin development. Among the discordant transcriptional profiles we identified two key mediators of vascular calcification and bone metabolism, ENPP1 and OPG, which offer a molecular explanation for the major phenotypic differences in vascular and bone disease in sporadic and hereditary HGPS. Finally, this study correlates reduced TWIST2 and OPG expression with increased osteocalcin levels, thereby linking altered bone remodeling to energy homeostasis in hereditary HGPS.

  4. Discordant Gene Expression Signatures and Related Phenotypic Differences in Lamin A- and A/C-Related Hutchinson-Gilford Progeria Syndrome (HGPS)

    Science.gov (United States)

    Plasilova, Martina; Chattopadhyay, Chandon; Ghosh, Apurba; Wenzel, Friedel; Demougin, Philippe; Noppen, Christoph; Schaub, Nathalie; Szinnai, Gabor; Terracciano, Luigi; Heinimann, Karl

    2011-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a genetic disorder displaying features reminiscent of premature senescence caused by germline mutations in the LMNA gene encoding lamin A and C, essential components of the nuclear lamina. By studying a family with homozygous LMNA mutation (K542N), we showed that HGPS can also be caused by mutations affecting both isoforms, lamin A and C. Here, we aimed to elucidate the molecular mechanisms underlying the pathogenesis in both, lamin A- (sporadic) and lamin A and C-related (hereditary) HGPS. For this, we performed detailed molecular studies on primary fibroblasts of hetero- and homozygous LMNA K542N mutation carriers, accompanied with clinical examinations related to the molecular findings. By assessing global gene expression we found substantial overlap in altered transcription profiles (13.7%; 90/657) in sporadic and hereditary HGPS, with 83.3% (75/90) concordant and 16.7% (15/90) discordant transcriptional changes. Among the concordant ones we observed down-regulation of TWIST2, whose inactivation in mice and humans leads to loss of subcutaneous fat and dermal appendages, and loss of expression in dermal fibroblasts and periadnexial cells from a LMNAK542N/K542N patient further confirming its pivotal role in skin development. Among the discordant transcriptional profiles we identified two key mediators of vascular calcification and bone metabolism, ENPP1 and OPG, which offer a molecular explanation for the major phenotypic differences in vascular and bone disease in sporadic and hereditary HGPS. Finally, this study correlates reduced TWIST2 and OPG expression with increased osteocalcin levels, thereby linking altered bone remodeling to energy homeostasis in hereditary HGPS. PMID:21738662

  5. A High Throughput Phenotypic Screening reveals compounds that counteract premature osteogenic differentiation of HGPS iPS-derived mesenchymal stem cells

    Science.gov (United States)

    Lo Cicero, Alessandra; Jaskowiak, Anne-Laure; Egesipe, Anne-Laure; Tournois, Johana; Brinon, Benjamin; Pitrez, Patricia R.; Ferreira, Lino; de Sandre-Giovannoli, Annachiara; Levy, Nicolas; Nissan, Xavier

    2016-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare fatal genetic disorder that causes systemic accelerated aging in children. Thanks to the pluripotency and self-renewal properties of induced pluripotent stem cells (iPSC), HGPS iPSC-based modeling opens up the possibility of access to different relevant cell types for pharmacological approaches. In this study, 2800 small molecules were explored using high-throughput screening, looking for compounds that could potentially reduce the alkaline phosphatase activity of HGPS mesenchymal stem cells (MSCs) committed into osteogenic differentiation. Results revealed seven compounds that normalized the osteogenic differentiation process and, among these, all-trans retinoic acid and 13-cis-retinoic acid, that also decreased progerin expression. This study highlights the potential of high-throughput drug screening using HGPS iPS-derived cells, in order to find therapeutic compounds for HGPS and, potentially, for other aging-related disorders. PMID:27739443

  6. Truncated prelamin A expression in HGPS-like patients: a transcriptional study

    NARCIS (Netherlands)

    Barthelemy, F.; Navarro, C; Fayek, R.; Silva, N.; Roll, P.; Sigaudy, S.; Oshima, J.; Bonne, G.; Papadopoulou-Legbelou, K.; Evangeliou, A.E.; Spilioti, M.; Lemerrer, M.; Wevers, R.A.; Morava, E.; Robaglia-Schlupp, A.; Levy, N.; Bartoli, M.; Sandre-Giovannoli, A. De

    2015-01-01

    Premature aging syndromes are rare genetic disorders mimicking clinical and molecular features of aging. A recently identified group of premature aging syndromes is linked to mutation of the LMNA gene encoding lamins A and C, and is associated with nuclear deformation and dysfunction. Hutchinson-Gil

  7. Truncated prelamin A expression in HGPS-like patients: a transcriptional study

    NARCIS (Netherlands)

    Barthelemy, F.; Navarro, C; Fayek, R.; Silva, N.; Roll, P.; Sigaudy, S.; Oshima, J.; Bonne, G.; Papadopoulou-Legbelou, K.; Evangeliou, A.E.; Spilioti, M.; Lemerrer, M.; Wevers, R.A.; Morava, E.; Robaglia-Schlupp, A.; Levy, N.; Bartoli, M.; Sandre-Giovannoli, A. De

    2015-01-01

    Premature aging syndromes are rare genetic disorders mimicking clinical and molecular features of aging. A recently identified group of premature aging syndromes is linked to mutation of the LMNA gene encoding lamins A and C, and is associated with nuclear deformation and dysfunction. Hutchinson-Gil

  8. Including patients’ perspectives in patient information leaflets: A polyocular approach

    DEFF Research Database (Denmark)

    Fage-Butler, Antoinette Mary

    2013-01-01

    Existing research reveals that patients’ perspectives are missing from mandatory patient information leaflets (PILs). At the same time, there is overwhelming consensus that they should be included in this genre, and a corresponding need for potential approaches to tackle this problem. This paper...

  9. Including patients’ perspectives in patient information leaflets: A polyocular approach

    DEFF Research Database (Denmark)

    Fage-Butler, Antoinette Mary

    2013-01-01

    asymmetries. The paper contributes theoretically in its innovative use of perspectivist theory in relation to text, and in identifying that the insights of polyocularity could valuably inform a new health communication paradigm, as current health communication paradigms do not fully recognize patients......Existing research reveals that patients’ perspectives are missing from mandatory patient information leaflets (PILs). At the same time, there is overwhelming consensus that they should be included in this genre, and a corresponding need for potential approaches to tackle this problem. This paper......’ perspectives. Apart from its theoretical contributions, the paper includes guidelines to support the production of PILs where patients’ perspectives are included. The guidelines are informed by practices that have characterised previous polyocular communication events, as well as research into how to maximize...

  10. Association of progerin-interactive partner proteins with lamina proteins:Mel18 is associated with emerin in HGPS%Progerin作用的伴侣蛋白和核纤层蛋白问的相互作用:在早老症中Mel18与emerin的相互作用

    Institute of Scientific and Technical Information of China (English)

    Wei-na JU; W. Ted BROWN; Nanbert ZHONG

    2009-01-01

    Objective :The Hutchinson-Gilford progeria syndrome (HGPS or progeria) is a childhood disorder with features of premature aging and is caused by mutations in the lamin A gene resulting in the production of an abnormal protein, termed progerin. To investigate the underlying pathogenic mecha-nism, we studied the nuclear co-localization and association of progerin interactive partner proteins (PIPPs) with lamina proteins. Methods:Both wild-type (WT) and progeria fibroblasts were studied by various methods including eonfocal microscopy, immunopreeipitation and Western blot. Results:All PIPPs discovered so-far co-localized with lamin A/C. In addition, the PIPPs were selectively associated with lamina proteins. An increased immunofluorescent staining signal was found for Mel18 in HGPS as com-pared to WT cells. An association of Me118 with emerin was observed in HGPS, but not in WT cells.Conclusion: Based on these findings, we propose that PIPPs, along with associated lamina proteins may form a pathogenic progerin-containing protein complex.

  11. Dental and craniofacial characteristics in a patient with Hutchinson-Gilford progeria syndrome.

    Science.gov (United States)

    Reichert, Christoph; Gölz, Lina; Götz, Werner; Wolf, Michael; Deschner, James; Jäger, Andreas

    2014-07-01

    The Hutchinson-Gilford progeria syndrome (HGPS) is an exceptionally rare medical disorder caused by mutations in the lamin A/C gene. Affected patients display typical features of premature aging. Beside general medical disorders, these patients have several specific features related to the craniofacial phenotype and the oral cavity. In this article, the dental and craniofacial characteristics of a 9-year-old girl with HGPS are presented. It is the first report addressing orthodontic tooth movement and microbiological features in a HGPS patient. We describe and discuss pathologic findings and provide a detailed histology of the teeth which had to be extracted during initial treatment.

  12. 21 CFR 870.2900 - Patient transducer and electrode cable (including connector).

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Patient transducer and electrode cable (including... § 870.2900 Patient transducer and electrode cable (including connector). (a) Identification. A patient transducer and electrode cable (including connector) is an electrical conductor used to transmit signals from...

  13. Cardiac electrical defects in progeroid mice and Hutchinson–Gilford progeria syndrome patients with nuclear lamina alterations

    Science.gov (United States)

    Rivera-Torres, José; Calvo, Conrado J.; Llach, Anna; Guzmán-Martínez, Gabriela; Caballero, Ricardo; González-Gómez, Cristina; Jiménez-Borreguero, Luis J.; Guadix, Juan A.; Osorio, Fernando G.; López-Otín, Carlos; Herraiz-Martínez, Adela; Cabello, Nuria; Vallmitjana, Alex; Benítez, Raul; Gordon, Leslie B.; Pérez-Pomares, José M.; Tamargo, Juan; Delpón, Eva; Hove-Madsen, Leif; Filgueiras-Rama, David; Andrés, Vicente

    2016-01-01

    Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disease caused by defective prelamin A processing, leading to nuclear lamina alterations, severe cardiovascular pathology, and premature death. Prelamin A alterations also occur in physiological aging. It remains unknown how defective prelamin A processing affects the cardiac rhythm. We show age-dependent cardiac repolarization abnormalities in HGPS patients that are also present in the Zmpste24−/− mouse model of HGPS. Challenge of Zmpste24−/− mice with the β-adrenergic agonist isoproterenol did not trigger ventricular arrhythmia but caused bradycardia-related premature ventricular complexes and slow-rate polymorphic ventricular rhythms during recovery. Patch-clamping in Zmpste24−/− cardiomyocytes revealed prolonged calcium-transient duration and reduced sarcoplasmic reticulum calcium loading and release, consistent with the absence of isoproterenol-induced ventricular arrhythmia. Zmpste24−/− progeroid mice also developed severe fibrosis-unrelated bradycardia and PQ interval and QRS complex prolongation. These conduction defects were accompanied by overt mislocalization of the gap junction protein connexin43 (Cx43). Remarkably, Cx43 mislocalization was also evident in autopsied left ventricle tissue from HGPS patients, suggesting intercellular connectivity alterations at late stages of the disease. The similarities between HGPS patients and progeroid mice reported here strongly suggest that defective cardiac repolarization and cardiomyocyte connectivity are important abnormalities in the HGPS pathogenesis that increase the risk of arrhythmia and premature death. PMID:27799555

  14. Blood purification in the critically ill patient. Prescription tailored to the indication (including the pediatric patient).

    Science.gov (United States)

    Sanchez-Izquierdo Riera, J A; Montoiro Allué, R; Tomasa Irriguible, T; Palencia Herrejón, E; Cota Delgado, F; Pérez Calvo, C

    2016-10-01

    We maintain a dynamic position on extracorporeal blood purification therapies (EBPT). Continuous therapies are of choice in the hemodynamically unstable patient. We recommend their early introduction in the course of the disease, and starting with a dose of 30-35mL/kg/h. Above all, however, daily re-evaluation is required of the hemodynamic and metabolic situation and water balance of our patients in order to allow dynamic dose adjustment. Some data suggest that continuous EBPT can favorably influence the clinical course of our patients, even in the absence of acute kidney injury. The potential usefulness of hemofiltration at doses higher than the conventional doses (continuous ultrafiltration >50mL/kg/h or pulses of at least 4h a day to more than 100dosesmL/kg/h) for achieving blood purification has also been commented. We review the possible indications of this technique, together with the peculiarities of implementing these therapies in children. Copyright © 2016 Elsevier España, S.L.U. y SEMICYUC. All rights reserved.

  15. Fever in trauma patients: evaluation of risk factors, including traumatic brain injury.

    Science.gov (United States)

    Bengualid, Victoria; Talari, Goutham; Rubin, David; Albaeni, Aiham; Ciubotaru, Ronald L; Berger, Judith

    2015-03-01

    The role of fever in trauma patients remains unclear. Fever occurs as a response to release of cytokines and prostaglandins by white blood cells. Many factors, including trauma, can trigger release of these factors. To determine whether (1) fever in the first 48 hours is related to a favorable outcome in trauma patients and (2) fever is more common in patients with head trauma. Retrospective study of trauma patients admitted to the intensive care unit for at least 2 days. Data were analyzed by using multivariate analysis. Of 162 patients studied, 40% had fever during the first 48 hours. Febrile patients had higher mortality rates than did afebrile patients. When adjusted for severity of injuries, fever did not correlate with mortality. Neither the incidence of fever in the first 48 hours after admission to the intensive care unit nor the number of days febrile in the unit differed between patients with and patients without head trauma (traumatic brain injury). About 70% of febrile patients did not have a source found for their fever. Febrile patients without an identified source of infection had lower peak white blood cell counts, lower maximum body temperature, and higher minimum platelet counts than did febrile patients who had an infectious source identified. The most common infection was pneumonia. No relationship was found between the presence of fever during the first 48 hours and mortality. Patients with traumatic brain injury did not have a higher incidence of fever than did patients without traumatic brain injury. About 30% of febrile patients had an identifiable source of infection. Further studies are needed to understand the origin and role of fever in trauma patients. ©2015 American Association of Critical-Care Nurses.

  16. Urticaria and Prodromal Symptoms Including Erythema Marginatum in Danish Patients with Hereditary Angioedema.

    Science.gov (United States)

    Rasmussen, Eva R; de Freitas, Priscila Valente; Bygum, Anette

    2016-03-01

    Erythema marginatum is a characteristic skin rash seen in patients with hereditary angioedema (HAE); however, it can be confused with urticaria, leading to delay in correct diagnosis. The aim of this study was to clarify how often erythema marginatum is misinterpreted as urticaria, potentially leading physicians to refrain from testing for HAE. Few studies have been published on urticaria and prodromal symptoms in HAE, thus the incidence of these parameters were also investigated. A total of 87 patients affiliated to the national HAE Centre were included. Retrospective and prospective data on skin eruptions and prodromal symptoms were collected. Fifty-six percent of 87 patients had a positive history of erythema marginatum. Half of the patients had experienced erythema marginatum being misinterpreted as urticaria. The most prevalent other prodromal symptoms were other skin symptoms, malaise, psychological changes, fatigue and gastrointestinal symptoms. HAE patients with erythema marginatum have a longer diagnostic delay, presumably caused by misinterpretation of the rash as urticaria.

  17. Urticaria and Prodromal Symptoms Including Erythema Marginatum in Danish Patients with Hereditary Angioedema

    DEFF Research Database (Denmark)

    Rasmussen, Eva R; Valente de Freitas, Priscila; Bygum, Anette

    2016-01-01

    Erythema marginatum is a characteristic skin rash seen in patients with hereditary angioedema (HAE); however, it can be confused with urticaria, leading to delay in correct diagnosis. The aim of this study was to clarify how often erythema marginatum is misinterpreted as urticaria, potentially...... leading physicians to refrain from testing for HAE. Few studies have been published on urticaria and prodromal symptoms in HAE, thus the incidence of these parameters were also investigated. A total of 87 patients affiliated to the national HAE Centre were included. Retrospective and prospective data...... on skin eruptions and prodromal symptoms were collected. Fifty-six percent of 87 patients had a positive history of erythema marginatum. Half of the patients had experienced erythema marginatum being misinterpreted as urticaria. The most prevalent other prodromal symptoms were other skin symptoms, malaise...

  18. Enhanced SRSF5 Protein Expression Reinforces Lamin A mRNA Production in HeLa Cells and Fibroblasts of Progeria Patients.

    Science.gov (United States)

    Vautrot, Valentin; Aigueperse, Christelle; Oillo-Blanloeil, Florence; Hupont, Sébastien; Stevenin, James; Branlant, Christiane; Behm-Ansmant, Isabelle

    2016-03-01

    The Hutchinson Gilford Progeria Syndrome (HGPS) is a rare genetic disease leading to accelerated aging. Three mutations of the LMNA gene leading to HGPS were identified. The more frequent ones, c.1824C>T and c.1822G>A, enhance the use of the intron 11 progerin 5'splice site (5'SS) instead of the LMNA 5'SS, leading to the production of the truncated dominant negative progerin. The less frequent c.1868C>G mutation creates a novel 5'SS (LAΔ35 5'SS), inducing the production of another truncated LMNA protein (LAΔ35). Our data show that the progerin 5'SS is used at low yield in the absence of HGPS mutation, whereas utilization of the LAΔ35 5'SS is dependent upon the presence of the c.1868C>G mutation. In the perspective to correct HGPS splicing defects, we investigated whether SR proteins can modify the relative yields of utilization of intron 11 5'SSs. By in cellulo and in vitro assays, we identified SRSF5 as a direct key regulator increasing the utilization of the LMNA 5'SS in the presence of the HGPS mutations. Enhanced SRSF5 expression in dermal fibroblasts of HGPS patients as well as PDGF-BB stimulation of these cells decreased the utilization of the progerin 5'SS, and improves nuclear morphology, opening new therapeutic perspectives for premature aging.

  19. Upper gastrointestinal bleeding: predictors of risk in a mixed patient group including variceal and nonvariceal haemorrhage.

    Science.gov (United States)

    Lahiff, Conor; Shields, William; Cretu, Ion; Mahmud, Nasir; McKiernan, Susan; Norris, Suzanne; Silke, Bernard; Reynolds, John V; O'Toole, Dermot

    2012-02-01

    Effective management of upper gastrointestinal bleeding (UGIB) relies on the application of clinical risk scores. The validation of risk scores has to date focused mainly on nonvariceal UGIB groups. We aimed to evaluate our clinical and endoscopic management of UGIB, and to validate existing risk scores for a mixed patient population with a high percentage of variceal bleeds. Analysis included UGIB patients presenting consecutively to a tertiary referral university hospital. All patients had been admitted by our emergency department and had undergone upper gastrointestinal endoscopy. Clinical, biochemical and endoscopic data were recorded. Clinical and complete Rockall and Blatchford risk scores were calculated for all patients and statistical analysis was carried out by a multiple logistical regression model. A total of 21% of patients had variceal bleeds. There was considerable heterogeneity between groups with the variceal group having more comorbidities (P=0.003), lower haemoglobin (P=0.003) and lower systolic blood pressure (P=0.013) at presentation. This translated to higher risk scores (Pbleeding or mortality. However, no patient with a Blatchford score of 0 had an adverse clinical outcome. Postendoscopic Rockall score can be used as a predictor of outcome for mixed UGIB groups. Although Blatchford score did not predict outcome in our study, at a 0 level it does appear to be a safe triage tool for pre-endoscopic identification of patients with variceal bleeds, even where there is no known history of liver disease.

  20. Developing new dental communication skills assessment tools by including patients and other stakeholders.

    Science.gov (United States)

    Wener, Mickey Emmons; Schönwetter, Dieter J; Mazurat, Nita

    2011-12-01

    Effectively using patients as teachers to provide authentic feedback is an underused strategy in dental education, but it has potential for integrating the teaching of therapeutic communication skills within the dental clinic setting. This study focuses on the absence of patient input into the design of instruments used to assess students' clinical communication skills and demonstrates how a holistic approach, with input from key stakeholders including patients, was used to produce two such instruments. The development of complementary communication assessment instruments, one for patient use and one for student use, took place in three phases. In Phase I the authors reviewed a sample of existing patient satisfaction surveys; in Phase II they captured input from stakeholders; and Phase III resulted in the generation of the patient communication assessment instrument and the student communication self-assessment instrument. This article highlights communication skill issues relevant to the education of oral health professionals and describes the rationale and process for the development of the first iteration of the patient assessment and student self-assessment clinical communication instruments.

  1. Report on 3 patients with 12p duplication including GRIN2B.

    Science.gov (United States)

    Poirsier, Celine; Landais, Emilie; Bednarek, Nathalie; Nobecourt, Jean-Marie; Khoury, Maroun; Schmidt, Pascal; Morville, Patrice; Gruson, Nadine; Clomes, Sandrine; Michel, Nicole; Riot, Anita; Manjeongean, Christelle; Gaillard, Dominique; Doco-Fenzy, Martine

    2014-04-01

    The duplication of the short arm (p) of chromosome 12 is a rare chromosomal abnormality, and most reported cases result from malsegregation of a balanced parental translocation associated with other chromosomal imbalances. Of the reported cases, only 15 involve a pure and complete 12p duplication and only 10 involve a pure and partial duplication overlapping the 12p12.3p13.1 region, including a single instance of an inherited duplication in two related individuals. Here, we report three new patients with a pure 12p duplication, detected by conventional cytogenetic studies and characterized by array-comparative genomic hybridization (array-CGH) and fluorescence in situ hybridization (FISH). The first patient was a child carrying a de novo inverted duplication of the short arm of chromosome 12. His phenotype was similar to that of the "trisomy 12p syndrome", characterized by developmental delays and craniofacial abnormalities including a high forehead, a short nose with anteverted nostrils and an everted lower lip. The second and third patients were a mother and son with a direct 12p12.3p13.1 duplication, exhibiting a milder phenotype characterized by moderate developmental delays, dysmorphic facial features, behavioral problems and obesity. The present data, including the rarity of the familial cases, should contribute to our knowledge of the genotype/phenotype correlation in trisomy 12p patients.

  2. Respiratory Considerations Including Airway and Ventilation Issues in Critical Care Obstetric Patients.

    Science.gov (United States)

    Ende, Holly; Varelmann, Dirk

    2016-12-01

    Critical care management of the obstetric patient can present unique challenges. Parturients who present with respiratory distress can suffer from a multitude of etiologies, and each diagnosis must be pursued as appropriate to the clinical picture. Normal physiologic changes of pregnancy may obscure the presentation and diagnosis, and irrelevant of the cause, pregnancy may complicate the management of hypoxic and hypercarbic respiratory failure in this patient population. In addition to these concerns, both anticipated and unanticipated difficult airway management, including difficulty ventilating and intubating, are more common during pregnancy and may be encountered during endotracheal tube placement. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. The Pathogenic Mechanisms and Therapeutic Strategies of Hutchinson-Gilford Progeria Syndrome%早老症(HGPS)的发病机制与治疗策略

    Institute of Scientific and Technical Information of China (English)

    曾涛; 刘新光; 周中军

    2007-01-01

    早老症(Hutchinson-Gilford Progeria Syndrome,HGPS)是一种早发而严重的过早老化性疾病.它是由于编码A/C型核纤层蛋白的LMNA基因发生点突变而引起.这个突变激活了基因11号外显子上一个隐蔽的剪接位点,产生了一种被截短了50个氨基酸的A型核纤层蛋白.然而,一个广泛分布于核膜上结构蛋白的突变,如何引起HGPS患者的早老表现,目前还不太清楚.最近研究发现,HGPS患者的细胞核结构与功能发生了各种异常,主要表现在:progerin蓄积与核变形、细胞核机械性质的改变、组蛋白修饰方式与外遗传控制的改变、基因表达调控异常、p53信号传导通路激活和基因组不稳定等方面.目前存在机械应激假说和基因表达失控假说两种假说解释HGPS的发病机制.对于HGPS患者,尚无有效的临床干预措施,但有学者提出了一些治疗策略,如应用法尼基化的抑制剂、反义寡核苷酸和RNA干扰方法.HGPS被认为是研究正常衰老机制的一个模型.对HGPS深入研究将有助于阐明A型核纤层蛋白和核膜的正常生理功能,及其在生理衰老和疾病中的作用.

  4. Pancytopenia, including macrocytic anemia, associated with leflunomide in a rheumatoid arthritis patient.

    Science.gov (United States)

    Toyokawa, Yasuhiko; Kingetsu, Isamu; Yasuda, Chiho; Yasuda, Jun; Yoshida, Ken; Kurosaka, Daitaro; Yamada, Akio

    2007-01-01

    A female rheumatoid arthritis patient was admitted for productive cough and general fatigue that had gradually developed after leflunomide therapy. Side effects including severe hypoxia, thrombocytopenia, lymphocytopenia, and macrocytic anemia with schistocytes (probably drug-induced megaloblastic anemia) were noted. Leflunomide-eliminating cholestyramine therapy successfully treated all conditions excluding severe hypoxia, which occurred owing to deteriorating interstitial pneumonia and complicated bacterial pneumonia following antibiotic treatment. This is a rare case of leflunomide-associated multiple hematopoietic impairments.

  5. Investigation of patients with atypical or severe hyperandrogenaemia including androgen-secreting ovarian teratoma.

    LENUS (Irish Health Repository)

    Dennedy, Michael Conall

    2012-02-01

    Approximately 7% of women of reproductive age manifest polycystic ovary syndrome (PCOS) and <0.5% have other causes of hyperandrogenism including congenital adrenal hyperplasia (CAH), androgen-secreting tumour of an ovary or an adrenal gland, Cushing\\'s syndrome or hyperthecosis. The presence of features atypical of PCOS should prompt more extensive evaluation than that usually undertaken. Features atypical of PCOS include the onset of symptoms outside the decade of 15-25 years, rapid progression of symptoms, the development of virilization and a serum testosterone concentration in excess of twice the upper limit of the reference range. Ethnic background, family history and specific clinical findings, e.g. Cushingoid appearance, may inform a focused investigation. Otherwise, patients should have measurement of 17-hydroxyprogesterone (17-OHP) under basal conditions ideally in the early morning, and if abnormal, they should have measurement of 17-OHP one hour after the administration of synthetic ACTH, 250 microg i.v., to screen for CAH, which is present in approximately 2% of hyperandrogenic patients. The overnight cortisol suppression test employing 1 mg dexamethasone at midnight is a sensitive test for Cushing\\'s syndrome. Coronal tomographic (CT) scanning of the adrenals and transvaginal ultrasonography of the ovaries are the investigations of choice when screening for tumours in these organs. Less frequently required is catheterization and sampling from both adrenal and ovarian veins, which is a technically demanding procedure with potential complications which may provide definitive diagnostic information not available from other investigations. Illustrative case reports highlight some complexities in the investigation of hyperandrogenic patients presenting with features atypical of PCOS and include only the ninth case report of an androgen-secreting ovarian teratoma.

  6. Antibody isotypes, including IgG subclasses, in Ecuadorian patients with pulmonary Paragonimiasis

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    Angel Guevara E.

    1995-08-01

    Full Text Available An ELISA test was developed to detect Paragonimus-specific antibodies, including IgG subclasses, using P. mexicanus crude water-soluble antigens. The test was standardized to detect antibodies in sera of Ecuadorian patients with pulmonary paragonimiasis and negative controls from the endemic area. The detected mean levels of IgG (0.753, SEM: 0.074 and IgM (0.303, SEM: 0.033 were significantly elevated (P<0.05. Within the IgG subclasses, IgG4 showed the highest detected mean level (0.365, SEM: 0.116 and the other three subclasses showed considerably lower mean levels (IgG1, 0.186 SEM: 0.06; IgG2, 0.046 SEM: 0.01; IgG3, 0.123 SEM: 0.047. The number of P. mexicanus eggs found in sputum of infected individuals showed a positive correlation with the level of antibodies detected for IgM, IgG and its subclasses (P<0.001. The relevance of these findings in Ecuadorian patients suffering from pulmonary paragonimiasis is discussed.

  7. [Baseline clinical characteristics and management of patients included in IBERICAN study].

    Science.gov (United States)

    Barrios, V; Escobar, C; Llisterri, J L; Rodríguez Roca, G; Badimón, J J; Vergara, J; Prieto, M Á; Serrano, A; Cinza, S; Murillo, C

    2015-01-01

    To determine the prevalence and incidence of cardiovascular risk factors and cardiovascular events in Spain, as well as the quality of the follow-up in clinical practice. In this study the baseline data of the first interim analysis of IBERICAN are shown (n=830). IBERICAN is a multicenter, longitudinal and observational population-based study of patients daily attended in primary care setting according to clinical practice in Spain. Subjects between 18 and 85 years daily attended in primary care setting are being included consecutively. Treatment of patients will be performed according only to clinical criteria of investigators. Blood pressure control was defined according to 2013 European guidelines of hypertension; LDL-cholesterol control was defined according to 2012 European guidelines of cardiovascular prevention; diabetes control was defined as HbA1ccardiovascular risk factors with a poor control. Copyright © 2014 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

  8. New treatment strategy including biological agents in patients with systemic lupus erythematosus.

    Science.gov (United States)

    Leszczyński, Piotr; Pawlak-Buś, Katarzyna

    2013-01-01

    Systemic lupus erythematosus (SLE) is a heterogeneous disease, in which B lymphocyte activation and chronic inflammation play the key role. Both the disease itself and its treatment cause damage to multiple organs and systems. So far, despite intensive treatment, disease remission has been achieved in few patients, and the ratio of organ complications has increased significantly. This is caused by a long‑term glucocorticoid therapy with a relatively rare use of immunosuppressive drugs. With a new treatment strategy and modern immunotherapy, it is possible to reduce the mortality rate, limit multiple‑organ damage, thereby significantly improving the quality of life and prognosis of patients with SLE. The "treat‑to‑target" strategy enables targeted treatment resulting in a long‑term symptom remission. It is based on an intensive immunosuppressive treatment with simultaneous reduction of glucocorticoid doses, and limiting their use solely to exacerbations in disease activity. The current idea for treatment is also the conscious use of the beneficial potential of background SLE treatment including antimalarial agents and standard immunosuppressive therapy. With the first biological agent approved for SLE treatment, the new age of therapy has dawned. Biologics offer new prospects and possibilities to induce clinical and immunological remission of SLE.

  9. Effectiveness of palliative care including physiotherapy in hiv patients a review of the literature

    Directory of Open Access Journals (Sweden)

    J. Uwimana

    2007-02-01

    Full Text Available It is estimated that 41 million people throughout the world are living with HIV/AIDS and of these 39 million are in sub-Saharan Africa(UNAIDS 2004.  The HIV/AIDS epidemic is devastating the African continent.In Africa poorly resourced health care infrastructure further impairs the quality of life in HIV sufferers. Palliative care is an approach that aims to improve the quality of life of people living with threatening diseases such as cancer and HIV/AIDS. This review aimed to determine the efficacy of palliative care. Complementary therapies such as Cognitive Behavioural Therapy, peer/counselling group therapy, massage  therapy, and exercise therapy constitute palliative care. Seventeen articles published in peer reviewed journals during the period 1990-2005 were reviewed. The findings of our review demonstrate that there are indications that palliative care can be effective in improving the quality of life in patients with life threatening diseases such HIV/AIDS. Research in this field is complicated by the heterogeneity of study samples, difficulty in patient recruitment, and death before the end of the intervention period. Future research in this area should aim to include larger study samples, using valid tools to assess quality of life and to employ qualitative methods in studies to assess the effectiveness of palliative care.

  10. Age influence on renalase and catecholamines concentration in hypertensive patients, including maintained dialysis

    Directory of Open Access Journals (Sweden)

    Zbroch E

    2016-10-01

    Full Text Available Edyta Zbroch, Dominika Musialowska, Ewa Koc-Zorawska, Jolanta Malyszko Second Department of Nephrology and Hypertension with Dialysis Centre, Medical University of Bialystok, Bialystok, Poland Background: Hypertension in elderly patients is one of the main problems in cardiovascular diseases. The sympathetic nervous system hyperactivity seen in older patients is a known risk factor for hypertension and other cardiovascular events as well as chronic kidney disease. Renalase, secreted by the kidney and circulated in blood, may regulate the sympathetic tone by catecholamine degradation and in this way has an impact on cardiovascular and renal complications.Objective: To assess the impact of age on renalase and catecholamine concentration in hypertensive patients, including those on dialyses and its possible relation to blood pressure control and cardiovascular disease.Methods: The study cohort of 211 patients was divided into two groups according to age below 65 years (range 19–64 and above 65 years (range 65–86. The older group represented 38% of the whole studied population and 75% of them were dialyzed. The two groups of different ages were also divided into dialysis and nondialysis subgroups. The serum renalase, dopamine, and norepinephrine concentration together with blood pressure value and echocardiography were assessed.Results: Patients aged 65 years and more had higher renalase (20.59 vs 13.14 µg/mL, P=0.02 and dopamine (41.71 vs 15.46 pg/mL, P<0.001 concentration as well as lower diastolic blood pressure (75.33 vs 85 mmHg, P=0.001, advanced abnormalities in echocardiography, and more often suffered from diabetes and coronary artery disease. The significant correlation between age and renalase (r=0.16; P=0.019, norepinephrine (r=0.179; P=0.013, and dopamine (r=0.21; P=0.003 was found in the whole study population. In the nondialysis subgroup, 44% had chronic kidney disease, mostly in the stage 2 (83%. There was a significantly higher

  11. [Bipolar disorder and quality of life: A cross-sectional study including 104 Tunisian patients].

    Science.gov (United States)

    Marrag, I; Hajji, K; Hadj Ammar, M; Zarrouk, L; Kachouri, R; Nasr, M

    2015-09-01

    Bipolar disorder affects many psychosocial and functional aspects, leading to a real social handicap and an alteration in quality of life. To evaluate bipolar patients' quality of life and to identify the risk factors responsible for a deterioration. Our cross-sectional study lasted for four months and included 104 bipolar patients treated at the psychiatry consultation of the university hospital in Mahdia. The data were collected through a questionnaire composed of 52 items exploring the general characteristics of subjects, the clinical and evolutional characteristics of bipolar disorder and providing information on the treatment. Quality of life was measured using the SF-36 (Short form) generic scale. A global average score was calculated and it was considered that quality of life was altered if the score was less than 66.7, according to the threshold value of Léan. Moreover, an average score was calculated for each dimension, thus permitting us to identify those most affected. We standardized initial average scores. The assessment of quality of life revealed a global average of 52.2 and an alteration in 78.8% of patients. The study of the dimensional average scores revealed that all dimensions were affected. The standardization also revealed deterioration in all dimensions, the mental component being particularly more affected than the physical component with respectively estimated scores of 31.7 and 40.5. The analytic approach concerned the relationship between qualitative and quantitative variables and the occurrence of an alteration in quality of life. For this effect, a bivariate study displayed a statistically significant correlation between the eight dimensions of the SF-36 and 8 variables. In order to take into account the relationships that link each variable to the others, and to avoid the bias of the bivariate study, a logistic regression analysis was performed. Only 4 variables with discriminating weight emerged from this analysis. According to the

  12. A multimethod investigation including direct observation of 3751 patient visits to 120 dental offices

    OpenAIRE

    Wotman, Stephen; Demko, Catherine A.; Victoroff, Kristin; Sudano, Joseph J; Lalumandier, James A

    2010-01-01

    This report defines verbal interactions between practitioners and patients as core activities of dental practice. Trained teams spent four days in 120 Ohio dental practices observing 3751 patient encounters with dentists and hygienists. Direct observation of practice characteristics, procedures performed, and how procedure and nonprocedure time was utilized during patient visits was recorded using a modified Davis Observation Code that classified patient contact time into 24 behavioral catego...

  13. A multimethod investigation including direct observation of 3751 patient visits to 120 dental offices

    Directory of Open Access Journals (Sweden)

    Stephen Wotman

    2010-05-01

    Full Text Available Stephen Wotman1, Catherine A Demko1, Kristin Victoroff1, Joseph J Sudano2, James A Lalumandier11Department of Community Dentistry, Case Western Reserve University, School of Dental Medicine, Cleveland, OH, USA; 2Center of Health Care Research and Policy, Case Western Reserve University, School of Medicine, Cleveland, OH, USAAbstract: This report defines verbal interactions between practitioners and patients as core activities of dental practice. Trained teams spent four days in 120 Ohio dental practices observing 3751 patient encounters with dentists and hygienists. Direct observation of practice characteristics, procedures performed, and how procedure and nonprocedure time was utilized during patient visits was recorded using a modified Davis Observation Code that classified patient contact time into 24 behavioral categories. Dentist, hygienist, and patient characteristics were gathered by questionnaire. The most common nonprocedure behaviors observed for dentists were chatting, evaluation feedback, history taking, and answering patient questions. Hygienists added preventive counseling. We distinguish between preventive procedures and counseling in actual dental offices that are members of a practice-based research network. Almost a third of the dentist’s and half of the hygienist’s patient contact time is utilized for nonprocedure behaviors during patient encounters. These interactions may be linked to patient and practitioner satisfaction and effectiveness of self-care instruction.Keywords: dental practice, dental practice core activities, direct observation of dental practice, Dental Davis Observation Code, dentist, hygienist patient behaviors

  14. Preoperative Serum Interleukin-6 Is a Potential Prognostic Factor for Colorectal Cancer, including Stage II Patients

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    Kazuyoshi Shiga

    2016-01-01

    Full Text Available Aims. To evaluate the prognostic significance of serum interleukin-6 (IL-6 in colorectal cancer (CRC. Patients and Methods. Preoperative serum IL-6 was measured in 233 CRC patients and 13 healthy controls. Relationships between IL-6 and various clinicopathological factors were evaluated, and the overall survival (OS and disease-free survival (DFS rates according to IL-6 status were calculated for all patients and according to disease stage. Results. The mean IL-6 level was 6.6 pg/mL in CRC patients and 2.6 pg/mL in healthy controls. Using a cutoff of 6.3 pg/mL, obtained using receiver operating characteristic curve analysis, 57 patients had a high IL-6 level. The mean value was higher for stage II disease than for stage III disease. IL-6 status correlated with C-reactive protein (CRP and carcinoembryonic antigen levels, obstruction, and pT4 disease. The OS differed according to the IL-6 status for all patients, whereas the DFS differed for all patients and for those with stage II disease. The Cox proportional hazards model showed that pT4 disease was an independent risk factor for recurrence in all CRC patients; IL-6, CRP, and pT4 were significant risk factors in stage II patients. Conclusions. The preoperative IL-6 level influences the risk of CRC recurrence.

  15. PET surveillance of patients with ewing sarcomas of the trunk. Must the lower legs be included?

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    Vrachimis, A.; Stegger, L.; Weckesser, M. [Klinik und Poliklinik fuer Nuklearmedizin, Univ. Muenster (Germany); Dirksen, U.; Juergens, H. [Klinik und Poliklinik fuer Kinder- und Jugendmedizin - Paediatrische Haematologie und Onkologie, Univ. Muenster (Germany); Wessling, J. [Inst. fuer Klinische Radiologie, Univ. Muenster (Germany); Wenning, C.; Schober, O. [Klinik und Poliklinik fuer Nuklearmedizin, Univ. Muenster (Germany); European Inst. of Molecular Imaging, Westfaelische Wilhelms Univ. Muenster (Germany); Franzius, C. [MR- und PET/CT-Zentrum Bremen Mitte, Bremen (Germany)

    2010-07-01

    Aim: FDG-PET(/CT) is frequently used in surveillance of Ewing sarcoma (ES) patients. Since ES and PNET (primitive neuroectodermal tumours) may cause peripheral metastases some centers routinely recommend whole body PET acquisition from head to toe what may necessitate repositioning of the patient and thus extending examination time. It is not clear yet whether inclusion of lower leg adds to the diagnostic accuracy of PET scanning, especially in primary tumors of the trunk. Patients, method: 40 patients with ES and PNET of the trunk who were referred for surveillance after primary therapy with complete remission, were evaluated retrospectively: 27 men, 13 women; mean age at diagnosis 16.3 (3-35) years. At the time of diagnosis 28 patients had localized and 12 metastatic disease. Almost all of the patients had undergone a combined chemotherapy with surgery or/and radiotherapy. 156 follow-up PET scans of the legs of these patients were evaluated retrospectively. Results: Only in three (1.9%) of 156 scans a pathologic FDG accumulation was attributed to metastatic disease of the lower extremities. In these cases the observation of metastatic disease in the legs did not alter therapy, since in all three cases a multifocal disease progression was observed. Conclusion: Scanning of the lower legs may be omitted during follow-up in patients in whom the primary tumor was located in the trunk and in whom no clinical signs pointing to metastases in the lower legs are present. This provides a sufficient diagnostic power and a shorter examination time, thus increasing patient comfort and scanner availability. (orig.)

  16. Clinical characteristics of Pneumocystis pneumonia in non-HIV patients and prognostic factors including microbiological genotypes

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    Ito Yutaka

    2011-03-01

    Full Text Available Abstract Background The number of patients with non-HIV Pneumocystis pneumonia (PCP is increasing with widespread immunosuppressive treatment. We investigated the clinical characteristics of non-HIV PCP and its association with microbiological genotypes. Methods Between January 2005 and March 2010, all patients in 2 university hospitals who had been diagnosed with PCP by PCR were enrolled in this study. Retrospective chart review of patients, microbiological genotypes, and association with 30-day mortality were examined. Results Of the 82 adult patients investigated, 50 patients (61% had inflammatory diseases, 17 (21% had solid malignancies, 12 (15% had hematological malignancies, and 6 (7% had received transplantations. All patients received immunosuppressive agents or antitumor chemotherapeutic drugs. Plasma (1→3 β-D-glucan levels were elevated in 80% of patients, and were significantly reduced after treatment in both survivors and non-survivors. However, β-D-glucan increased in 18% of survivors and was normal in only 33% after treatment. Concomitant invasive pulmonary aspergillosis was detected in 5 patients. Fifty-six respiratory samples were stored for genotyping. A dihydropteroate synthase mutation associated with trimethoprim-sulfamethoxazole resistance was found in only 1 of the 53 patients. The most prevalent genotype of mitochondrial large-subunit rRNA was genotype 1, followed by genotype 4. The most prevalent genotype of internal transcribed spacers of the nuclear rRNA operon was Eb, followed by Eg and Bi. Thirty-day mortality was 24%, in which logistic regression analysis revealed association with serum albumin and mechanical ventilation, but no association with genotypes. Conclusions In non-HIV PCP, poorer general and respiratory conditions at diagnosis were independent predictors of mortality. β-D-glucan may not be useful for monitoring the response to treatment, and genotypes were not associated with mortality.

  17. Treatment of Patients with Systemic Lupus Erythematosus including Nephritis with Chlorambucil

    Science.gov (United States)

    Snaith, M. L.; Holt, J. M.; Oliver, D. O.; Dunnill, M. S.; Halley, W.; Stephenson, A. C.

    1973-01-01

    Six female patients with systemic lupus erythematosus (S.L.E.) have been treated with chlorambucil. In five the decision was taken after failure by corticosteroids to control progressive renal disease in the face of unacceptable corticosteroid toxicity. After the introduction of chlorambucil renal function improved and all patients remain well six, six, five, three, and two-and-a-half years later, respectively. On renal biopsy five had focal proliferative glomerulonephritis. Repeat biopsy in two cases showed quantitative improvement. The sixth patient was treated with chlorambucil because of failure by corticosteroids to control peripheral vascular lesions and haemolysis and she remains well four years later. In four patients is it probable that amenorrhoea was related to chlorambucil treatment, but there were no other important side effects although one patient developed a degree of marrow depression during treatment. Chlorambucil may hold advantages over the immunosuppressive drugs normally recommended in this condition, azathioprine and cyclophosphamide, as it appears less liable to cause important marrow suppression and, unlike cyclophosphamide is not associated with alopecia and haemorrhagic cystitis. ImagesFIG. 3FIG. 5 PMID:4700007

  18. The relationship between patients' knowledge of diabetes therapeutic goals and self-management behaviour, including adherence.

    Science.gov (United States)

    Waheedi, Mohammad; Awad, Abdelmoneim; Hatoum, Hind T; Enlund, Hannes

    2017-02-01

    Background The Middle East region has one the highest prevalence rates of diabetes in the world. Little is known about the determinants of adherence and the role of knowledge in diabetes self-management within these populations. Objective To investigate the relationship between patients knowledge of diabetes therapeutic targets with adherence to self-care measures in a sample of patients with type 2 diabetes in Kuwait. Setting Primary care chronic care clinics within the Ministry of Health of Kuwait. Methods A cross sectional survey was carried out with 238 patients from six clinics. A multistage stratified clustered sampling method was used to first randomly select the clinics and the patients. Self-reported adherence to three behaviours: medication taking, diet and physical activity. Results Respondents were able to correctly report a mean (SD) of 1.6 (1.3) out of 5 of the pre-specified treatment targets. Optimal adherence to physical activity, diet and medications was reported in 25, 33 and 47 % of the study cohort, respectively. A structural equation model analysis showed better knowledge of therapeutic goals and own current levels translated into better adherence to medications, diet and physical activity. Conclusion Knowledge of therapeutic goals and own recent levels is associated with adherence to medications, diet, or physical activity in this Kuwaiti cohort of patients with diabetes. Low adherence to self-care management and poor overall knowledge of diabetes is a big challenge to successful diabetes care in Kuwait.

  19. Evaluation research studies essential to ensuring health information systems meet the needs of users, including patients.

    Science.gov (United States)

    Callen, Joanne

    2016-04-12

    Electronic health records and the Internet will continue to transform how information is accessed and shared. Users of health data such as health professionals, governments, policymakers, researchers and patients themselves need to be able to access the right information at the right time and be confident in the quality of that information, whether personal, aggregated or knowledge based. It is essential to evaluate information systems and applications that claim to improve information quality and access in order to provide evidence that they support healthcare delivery and improve patient outcomes.

  20. Urticaria and Prodromal Symptoms Including Erythema Marginatum in Danish Patients with Hereditary Angioedema

    DEFF Research Database (Denmark)

    Rasmussen, Eva R; Valente de Freitas, Priscila; Bygum, Anette

    2015-01-01

    Erythema marginatum is a characteristic skin rash seen in patients with hereditary angioedema (HAE); however, it can be confused with urticaria, leading to delay in correct diagnosis. The aim of this study was to clarify how often erythema marginatum is misinterpreted as urticaria, potentially...

  1. Management recommendations for invasive dental treatment in patients using oral antithrombotic medication, including novel oral anticoagulants

    NARCIS (Netherlands)

    van Diermen, D.E.; van der Waal, I.; Hoogstraten, J.

    2013-01-01

    Objective The aims were (1) to search the scientific literature from 2007 to 2012 for guidelines and new studies on the dental management of patients using oral antithrombotic medication; (2) to summarize the articles' evidence and recommendations; and (3) to propose an updated clinical practice gui

  2. A multimethod investigation including direct observation of 3751 patient visits to 120 dental offices

    OpenAIRE

    Stephen Wotman; Demko, Catherine A.; Kristin Victoroff; et al.

    2010-01-01

    Stephen Wotman1, Catherine A Demko1, Kristin Victoroff1, Joseph J Sudano2, James A Lalumandier11Department of Community Dentistry, Case Western Reserve University, School of Dental Medicine, Cleveland, OH, USA; 2Center of Health Care Research and Policy, Case Western Reserve University, School of Medicine, Cleveland, OH, USAAbstract: This report defines verbal interactions between practitioners and patients as core activities of dental practice. Trained teams spent four days in 120 Ohio denta...

  3. A Remarkable Improvement of Patients with Idiopathic Thrombocytopenic Purpura after appendectomy including Carcinoid tumor

    Directory of Open Access Journals (Sweden)

    Hamidreza Alizadeh-Otaghvar

    2011-09-01

    Full Text Available The assistance of chronic idiopathic thrombocytopenic purpura and appendiceal carcinoid tumor is so rare and has not been reported before .we present here in a 11 year old boy that is the known case of chronic idiopathic thrombocytopenic purpura (with the platelet count of 20000 when admitted. He reffered due to anorexia, pain and tenderness of right lower quadrant of abdomen and vomiting. He also had leukocytosis and abdominal free fluid in sonographic report. These findings suggested the diagnosis of acute appendicitis and the patient underwent appendectomy, after the operation, the platelet count became normal. The pathologic report of the specimen of the appendix was carcinoid tumor. Now the question is whether the appendiceal carcinoid tumor can be the reason of symptoms of chronic idiopathic.

  4. Disclosure-and-resolution programs that include generous compensation offers may prompt a complex patient response.

    Science.gov (United States)

    Murtagh, Lindsey; Gallagher, Thomas H; Andrew, Penny; Mello, Michelle M

    2012-12-01

    Under "disclosure-and-resolution" programs, health systems disclose adverse events to affected patients and their families; apologize; and, where appropriate, offer compensation. Early adopters of this approach have reported reduced liability costs, but the extent to which these results stem from effective disclosure and apology practices, versus compensation offers, is unknown. Using survey vignettes, we examined the effects of different compensation offers on individuals' responses to disclosures of medical errors compared to explanation and apology alone. Our results show that although two-thirds of these individuals desired compensation offers, increasing the offer amount did not improve key outcomes. Full-compensation offers did not decrease the likelihood of seeking legal advice and increased the likelihood that people perceived the disclosure and apology as motivated by providers' desire to avoid litigation. Hospitals, physicians, and malpractice insurers should consider this complex interplay as they implement similar initiatives. They may benefit from separating disclosure conversations and compensation offers and from excluding physicians from compensation discussions.

  5. Verrucous Oesophageal Carcinoma: Single Case Report and Case Series Including 15 Patients – Issues for Consideration of Therapeutic Strategies

    Science.gov (United States)

    Behrens, Angelika; Stolte, Manfred; Pech, Oliver; May, Andrea; Ell, Christian

    2014-01-01

    Background Verrucous carcinomas (VC) of the oesophagus are a rarity. Due to their histological resemblance to squamous cell carcinoma, the diagnostic and treatment standards applicable to the latter have so far also been applied to VC as a disease entity. Quite limited data are available including two case series of 5 or 11 patients. The present study reports on a single case treated by local endoscopic therapy and a series of 15 patients, 9 of whom received local endoscopic therapy. Methods The data for patients diagnosed with VC of the oesophagus who had been treated from January 1999 to May 2011 were analysed retrospectively. Results 15 patients with the diagnosis of oesophageal VC were included. The male-female ratio was 3:1. 9 of 11 pT1-VC patients presented with the cardinal symptom dysphagia or odynophagia. For the majority of the patients, the growth pattern is one of extensive superficial expansion showing a median length of 9 cm (range: 2-22 cm). Surprisingly, none of the VC patients showed lymph node or distant metastasis. 9 of 15 VC patients received local endoscopic therapy; 4 were treated with curative intent and 5 were treated palliatively. 3 patients underwent oesophageal resection, and definitive chemoradiotherapy was administered in a further 3 patients. One severe complication, consisting of a postoperative anastomotic insufficiency with a fatal outcome, occurred in this group of patients. Conclusion This is the largest published study describing patients diagnosed with VC of the oesophagus so far. The option of local endoscopic therapy and its results in 9 patients are reported for the first time. The superficial growth pattern of the tumour and the frequent absence of lymph node or distant metastasis suggest that endoscopic resection can be carried out as a diagnostic and/or therapeutic approach. Due to the rarity of this entity, the case numbers are unfortunately so limited that evidence-based recommendations are unlikely to become available

  6. Intensive combined modality therapy including low-dose TBI in high-risk Ewing's sarcoma patients

    Energy Technology Data Exchange (ETDEWEB)

    Kinsella, T.J.; Glaubiger, D.; Diesseroth, A.; Makuch, R.; Waller, B.; Pizzo, P.; Glatstein, E.

    1983-12-01

    Twenty-four high-risk Ewing's sarcoma patients were treated on an intensive combined modality protocol including low-dose fractionated total body irradiaiton (TBI) and autologous bone marrow infusion (ABMI). Twenty patients (83%) achieved a complete clinical response to the primary and/or metastatic sites following induction therapy. The median disease-free interval was 18 months, and nine patients remain disease-free with a follow-up of 22 to 72 months. Local failure as a manifestation of initial relapse occurred in only three patients (15%), each having synchronous distant failure. Eight patients failed initially with only distant metastases, usually within 1-2 years following a complete clinical response. Two patterns of granulocyte recovery following consolidative therapy (including TBI and ABMI) were recognized. The time to platelet recovery was different for the groups with early and late granulocyte recovery. Patients with late recovery did not tolerate maintenance chemotherapy. However, there was no difference in disease-free and overall survival, when comparing the groups with early and late granulocyte recovery. It is concluded that these high-risk Ewing's sarcoma patients remain a poor-prognosis group in spite of intensive combined modality therapy including low-dose TBI. The control of microscopic systemic disease remains the major challenge to improving the cure rate. A new combined modality protocol with high-dose 'therapeutic' TBI (800 rad/2 fractions) is being used and the protocol design is outlined.

  7. Whole body MRI, including diffusion-weighted imaging in follow-up of patients with testicular cancer.

    Science.gov (United States)

    Mosavi, Firas; Laurell, Anna; Ahlström, Håkan

    2015-11-01

    Whole body (WB) magnetic resonance imaging (MRI), including diffusion-weighted imaging (DWI) has become increasingly utilized in cancer imaging, yet the clinical utility of these techniques in follow-up of testicular cancer patients has not been evaluated. The purpose of this study was to evaluate the feasibility of WB MRI with continuous table movement (CTM) technique, including multistep DWI in follow-up of patients with testicular cancer. WB MRI including DWI was performed in follow-up of 71 consecutive patients (median age, 37 years; range 19-84) with histologically confirmed testicular cancer. WB MRI protocol included axial T1-Dixon and T2-BLADE sequences using CTM technique. Furthermore, multi-step DWI was performed using b-value 50 and 1000 s/mm(2). One criterion for feasibility was patient tolerance and satisfactory image quality. Another criterion was the accuracy in detection of any pathological mass, compared to standard of reference. Signal intensity in DWI was used for evaluation of residual mass activity. Clinical, laboratory and imaging follow-up were applied as standard of reference for the evaluation of WB MRI. WB MRI was tolerated in nearly all patients (69/71 patients, 97%) and the image quality was satisfactory. Metal artifacts deteriorated the image quality in six patients, but it did not influence the overall results. No case of clinical relapse was observed during the follow-up time. There was a good agreement between conventional WB MRI and standard of reference in all patients. Three patients showed residual masses and DWI signal was not restricted in these patients. Furthermore, DWI showed abnormally high signal intensity in a normal-sized retroperitoneal lymph node indicating metastasis. The subsequent (18)F-FDG PET/CT could verify the finding. WB MRI with CTM technique including multi-step DWI is feasible in follow-up of patients with testicular cancer. DWI may contribute to important added-value data to conventional MRI sequences

  8. Multistate Statistical Modeling: A Tool to Build a Lung Cancer Microsimulation Model That Includes Parameter Uncertainty and Patient Heterogeneity.

    Science.gov (United States)

    Bongers, Mathilda L; de Ruysscher, Dirk; Oberije, Cary; Lambin, Philippe; Uyl-de Groot, Carin A; Coupé, V M H

    2016-01-01

    With the shift toward individualized treatment, cost-effectiveness models need to incorporate patient and tumor characteristics that may be relevant to treatment planning. In this study, we used multistate statistical modeling to inform a microsimulation model for cost-effectiveness analysis of individualized radiotherapy in lung cancer. The model tracks clinical events over time and takes patient and tumor features into account. Four clinical states were included in the model: alive without progression, local recurrence, metastasis, and death. Individual patients were simulated by repeatedly sampling a patient profile, consisting of patient and tumor characteristics. The transitioning of patients between the health states is governed by personalized time-dependent hazard rates, which were obtained from multistate statistical modeling (MSSM). The model simulations for both the individualized and conventional radiotherapy strategies demonstrated internal and external validity. Therefore, MSSM is a useful technique for obtaining the correlated individualized transition rates that are required for the quantification of a microsimulation model. Moreover, we have used the hazard ratios, their 95% confidence intervals, and their covariance to quantify the parameter uncertainty of the model in a correlated way. The obtained model will be used to evaluate the cost-effectiveness of individualized radiotherapy treatment planning, including the uncertainty of input parameters. We discuss the model-building process and the strengths and weaknesses of using MSSM in a microsimulation model for individualized radiotherapy in lung cancer.

  9. Patients as team members: opportunities, challenges and paradoxes of including patients in multi-professional healthcare teams.

    Science.gov (United States)

    Martin, Graham P; Finn, Rachael

    2011-11-01

    Current healthcare policy emphasises the need for more collaborative, team-based approaches to providing care, and for a greater voice for service users in the management and delivery of care. Increasingly, policy encourages 'partnerships' between users and professionals so that users, too, effectively become team members. In examining this phenomenon, this paper draws on insights from the organisational-sociological literature on team work, which highlights the challenges of bringing together diverse professional groups, but which has not, to date, been applied in contexts where users, too, are included in teams. Using data from a qualitative study of five pilot cancer-genetics projects, in which service users were included in teams responsible for managing and developing new services, it highlights the difficulties involved in making teams of such heterogeneous members-and the paradoxes that arise when this task is achieved. It reveals how the tension between integration and specialisation of team members, highlighted in the literature on teams in general, is especially acute for service users, the distinctiveness of whose contribution is more fragile, and open to blurring. © 2011 The Authors. Sociology of Health & Illness © 2011 Foundation for the Sociology of Health & Illness/Blackwell Publishing Ltd.

  10. Patient experienced continuity of care in the psychiatric healthcare system-a study including immigrants, refugees and ethnic danes.

    Science.gov (United States)

    Jensen, Natasja Koitzsch; Johansen, Katrine Schepelern; Kastrup, Marianne; Krasnik, Allan; Norredam, Marie

    2014-09-17

    The purpose of this study was to investigate continuity of care in the psychiatric healthcare system from the perspective of patients, including vulnerable groups such as immigrants and refugees. The study is based on 19 narrative interviews conducted with 15 patients with diverse migration backgrounds (immigrants, descendents, refugees, and ethnic Danes). Patients were recruited from a community psychiatric centre situated in an area with a high proportion of immigrants and refugees. Data were analysed through the lens of a theoretical framework of continuity of care in psychiatry, developed in 2004 by Joyce et al., which encompasses four domains: accessibility, individualised care, relationship base and service delivery. Investigating continuity of care, we found issues of specific concern to immigrants and refugees, but also commonalities across the groups. For accessibility, areas pertinent to immigrants and refugees include lack of knowledge concerning mental illness and obligations towards children. In terms of individualised care, trauma, additional vulnerability, and taboo concerning mental illness were of specific concern. In the domain of service delivery, social services included assistance with immigration papers for immigrants and refugees. In the relationship base domain, no differences were identified. Implications for priority area: The treatment courses of patients in the psychiatric field are complex and diverse and the patient perspective of continuity of care provides important insight into the delivery of care. The study highlights the importance of person-centred care irrespective of migration background though it may be beneficial to have an awareness of areas that may be of more specific concern to immigrants and refugees. The study sheds light on concerns specific to immigrants and refugees in a framework of continuity of care, but also commonalities across the patient groups.

  11. Patient Experienced Continuity of Care in the Psychiatric Healthcare System—A Study Including Immigrants, Refugees and Ethnic Danes

    Directory of Open Access Journals (Sweden)

    Natasja Koitzsch Jensen

    2014-09-01

    Full Text Available Aim: The purpose of this study was to investigate continuity of care in the psychiatric healthcare system from the perspective of patients, including vulnerable groups such as immigrants and refugees. Method: The study is based on 19 narrative interviews conducted with 15 patients with diverse migration backgrounds (immigrants, descendents, refugees, and ethnic Danes. Patients were recruited from a community psychiatric centre situated in an area with a high proportion of immigrants and refugees. Data were analysed through the lens of a theoretical framework of continuity of care in psychiatry, developed in 2004 by Joyce et al., which encompasses four domains: accessibility, individualised care, relationship base and service delivery. Results: Investigating continuity of care, we found issues of specific concern to immigrants and refugees, but also commonalities across the groups. For accessibility, areas pertinent to immigrants and refugees include lack of knowledge concerning mental illness and obligations towards children. In terms of individualised care, trauma, additional vulnerability, and taboo concerning mental illness were of specific concern. In the domain of service delivery, social services included assistance with immigration papers for immigrants and refugees. In the relationship base domain, no differences were identified. Implications for priority area: The treatment courses of patients in the psychiatric field are complex and diverse and the patient perspective of continuity of care provides important insight into the delivery of care. The study highlights the importance of person-centred care irrespective of migration background though it may be beneficial to have an awareness of areas that may be of more specific concern to immigrants and refugees. Conclusions: The study sheds light on concerns specific to immigrants and refugees in a framework of continuity of care, but also commonalities across the patient groups.

  12. Metabolic syndrome and aerobic fitness in patients with first-episode schizophrenia, including a 1-year follow-up

    DEFF Research Database (Denmark)

    Nyboe, L.; Vestergaard, C. H.; Moeller, M. K.

    2015-01-01

    OBJECTIVE: To compare the prevalence of metabolic syndrome (MetS) and metabolic abnormalities in patients with first-episode schizophrenia (FES) with sex- and age-matched healthy controls; to investigate changes in MetS during 1year of treatment; and to investigate predictors of MetS. METHODS......: Patients with FES (N=99) and healthy controls (N=50) were included in the study. MetS was defined according to IDF based on waist circumference (WC), blood pressure (BP), triglycerides (TG), high-density lipoprotein (HDL), and fasting-glucose. Data on physical activity, aerobic fitness, smoking...

  13. Microdeletions Including FMR1 in Three Female Patients with Intellectual Disability – Further Delineation of the Phenotype and Expression Studies

    Science.gov (United States)

    Zink, A.M.; Wohlleber, E.; Engels, H.; Rødningen, O.K.; Ravn, K.; Heilmann, S.; Rehnitz, J.; Katzorke, N.; Kraus, C.; Blichfeldt, S.; Hoffmann, P.; Reutter, H.; Brockschmidt, F.F.; Kreiß-Nachtsheim, M.; Vogt, P.H.; Prescott, T.E.; Tümer, Z.; Lee, J.A.

    2014-01-01

    Fragile X syndrome (FXS) is one of the most common causes of intellectual disability/developmental delay (ID/DD), especially in males. It is caused most often by CGG trinucleotide repeat expansions, and less frequently by point mutations and partial or full deletions of the FMR1 gene. The wide clinical spectrum of affected females partly depends on their X-inactivation status. Only few female ID/DD patients with microdeletions including FMR1 have been reported. We describe 3 female patients with 3.5-, 4.2- and 9.2-Mb de novo microdeletions in Xq27.3-q28 containing FMR1. X-inactivation was random in all patients, yet they presented with ID/DD as well as speech delay, macrocephaly and other features attributable to FXS. No signs of autism were present. Here, we further delineate the clinical spectrum of female patients with microdeletions. FMR1 expression studies gave no evidence for an absolute threshold below which signs of FXS present. Since FMR1 expression is known to be highly variable between unrelated females, and since FMR1 mRNA levels have been suggested to be more similar among family members, we further explored the possibility of an intrafamilial effect. Interestingly, FMR1 mRNA levels in all 3 patients were significantly lower than in their respective mothers, which was shown to be specific for patients with microdeletions containing FMR1. PMID:24715853

  14. Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.

    Science.gov (United States)

    Saporta, Mario A; Dang, Vu; Volfson, Dmitri; Zou, Bende; Xie, Xinmin Simon; Adebola, Adijat; Liem, Ronald K; Shy, Michael; Dimos, John T

    2015-01-01

    Charcot-Marie-Tooth (CMT) disease is a group of inherited peripheral neuropathies associated with mutations or copy number variations in over 70 genes encoding proteins with fundamental roles in the development and function of Schwann cells and peripheral axons. Here, we used iPSC-derived cells to identify common pathophysiological mechanisms in axonal CMT. iPSC lines from patients with two distinct forms of axonal CMT (CMT2A and CMT2E) were differentiated into spinal cord motor neurons and used to study axonal structure and function and electrophysiological properties in vitro. iPSC-derived motor neurons exhibited gene and protein expression, ultrastructural and electrophysiological features of mature primary spinal cord motor neurons. Cytoskeletal abnormalities were found in neurons from a CMT2E (NEFL) patient and corroborated by a mouse model of the same NEFL point mutation. Abnormalities in mitochondrial trafficking were found in neurons derived from this patient, but were only mildly present in neurons from a CMT2A (MFN2) patient. Novel electrophysiological abnormalities, including reduced action potential threshold and abnormal channel current properties were observed in motor neurons derived from both of these patients. Human iPSC-derived motor neurons from axonal CMT patients replicated key pathophysiological features observed in other models of MFN2 and NEFL mutations, including abnormal cytoskeletal and mitochondrial dynamics. Electrophysiological abnormalities found in axonal CMT iPSC-derived human motor neurons suggest that these cells are hyperexcitable and have altered sodium and calcium channel kinetics. These findings may provide a new therapeutic target for this group of heterogeneous inherited neuropathies. Copyright © 2014 Elsevier Inc. All rights reserved.

  15. Implementing a benchmarking and feedback concept decreases postoperative pain after total knee arthroplasty: A prospective study including 256 patients

    Science.gov (United States)

    Benditz, A.; Drescher, J.; Greimel, F.; Zeman, F.; Grifka, J.; Meißner, W.; Völlner, F.

    2016-01-01

    Perioperative pain reduction, particularly during the first two days, is highly important for patients after total knee arthroplasty (TKA). Problems are not only caused by medical issues but by organization and hospital structure. The present study shows how the quality of pain management can be increased by implementing a standardized pain concept and simple, consistent benchmarking. All patients included into the study had undergone total knee arthroplasty. Outcome parameters were analyzed by means of a questionnaire on the first postoperative day. A multidisciplinary team implemented a regular procedure of data analyzes and external benchmarking by participating in a nationwide quality improvement project. At the beginning of the study, our hospital ranked 16th in terms of activity-related pain and 9th in patient satisfaction among 47 anonymized hospitals participating in the benchmarking project. At the end of the study, we had improved to 1st activity-related pain and to 2nd in patient satisfaction. Although benchmarking started and finished with the same standardized pain management concept, results were initially pure. Beside pharmacological treatment, interdisciplinary teamwork and benchmarking with direct feedback mechanisms are also very important for decreasing postoperative pain and for increasing patient satisfaction after TKA. PMID:27917911

  16. Arterial protocol including prophylactic distal perfusion catheter decreases limb ischemia complications in patients undergoing extracorporeal membrane oxygenation.

    Science.gov (United States)

    Lamb, Kathleen M; DiMuzio, Paul J; Johnson, Adam; Batista, Philip; Moudgill, Neil; McCullough, Megan; Eisenberg, Joshua A; Hirose, Hitoshi; Cavarocchi, Nicholas C

    2017-04-01

    Venoarterial extracorporeal membrane oxygenation (ECMO) is a salvage therapy in patients with severe cardiopulmonary failure. Owing to the large size of the cannulas inserted via the femoral vessels (≤24-F) required for adequate oxygenation, this procedure could result in significant limb ischemic complications (10%-70%). This study evaluates the results of a distal limb perfusion arterial protocol designed to reduce associated complications. We conducted a retrospective institutional review board-approved review of consecutive patients requiring ECMO via femoral cannulation (July 2010-January 2015). To prevent arterial ischemia, a distal perfusion catheter (DPC) was placed antegrade into the superficial femoral artery and connected to the ECMO circuit. Limb perfusion was monitored via near-infrared spectroscopy (NIRS) placed on both calves. Decannulation involved open repair, patch angioplasty, and femoral thrombectomy as needed. A total of 91 patients were placed on ECMO via femoral arterial cannula (16-F to 24-F) for a mean duration of 9 days (range, 1-40 days). A percutaneous DPC was inserted prophylactically at the time of cannulation in 55 of 91 patients, without subsequent ischemia. Of the remaining 36 patients without initial DPC placement, 12 (33% without DPC) developed ipsilateral limb ischemia related to arterial insufficiency, as detected by NIRS and clinical findings. In these patients, the placement of a DPC (n = 7) with or without a fasciotomy, or with a fasciotomy alone (n = 4), resulted in limb salvage; only one patient required subsequent amputation. After decannulation (n = 7), no patients had further evidence of limb ischemia. Risk factors for the development of limb ischemia identified by categorical analysis included lack of DPC at time of cannulation and ECMO cannula size of less than 20-Fr. There was a trend toward younger patient age. Overall ECMO survival rate was 42%, whereas survival in patients with limb ischemia was only 25

  17. Whitening efficacy of plant extracts including Hippophae rhamnoides and Cassia fistula extracts on the skin of Asian patients with melasma

    Science.gov (United States)

    Akhtar, Naveed; Hussain, Irshad; Abbas, Khwaja Asad; Rasul, Akhtar

    2013-01-01

    Introduction Melasma/hyperpigmentation and solar damage of the skin remains a difficult problem to treat. Various types of whitening agents are used to treat hyperpigmentation. A change has been observed recently to use plant extracts as skin whitening agents. Aim To compare the effectiveness of emulsion formulations containing plant extracts that include catechins/polyphenols and placebo without plant extracts, on patients with melasma. Material and methods Two groups of 25 patients each (aged 21–35 years), who reported to the outpatient department of BV Hospital and Personal clinic of a dermatologist, were included in the study. Volunteers applied the formulations with plant extracts and placebo to one side of the cheek. Prior to the study, signed consent was obtained from each patient. The tyrosinase inhibitory activity of the extracts and formulations was tested in vitro. The pigment density of patients was evaluated biometrologically using Mexameter® and subjectively using a visual survey before and after treatment of 12 weeks. The approval of the Institutional Ethics Committee of Faculty of Pharmacy, the Islamia University of Bahawalpur was obtained before the study. One-way ANOVA and Kruskal-Wallis tests were used in the statistical analysis. Results A significant decrease in the level of melanin was determined in all 50 patients who used a plant extract containing catechin (p ≤ 0.05). The difference between pre- and post-treatment levels of melanin was statistically significant (p = 0.05). Formulations prepared with plant extracts containing catechin were found effective on melasma, compared to the placebo. Conclusions Formulations containing plant extracts that are not yet being used widespread commercially on melasma could be an effective alternative treatment of melasma. PMID:24278079

  18. In vitro pathological modelling using patient-specific induced pluripotent stem cells: the case of progeria.

    Science.gov (United States)

    Nissan, Xavier; Blondel, Sophie; Peschanski, Marc

    2011-12-01

    Progeria, also known as HGPS (Hutchinson-Gilford progeria syndrome), is a rare fatal genetic disease characterized by an appearance of accelerated aging in children. This syndrome is typically caused by mutations in codon 608 (C1804T) of the gene encoding lamins A and C, LMNA, leading to the production of a truncated form of the protein called progerin. Owing to their unique potential to self-renew and to differentiate into any cell types of the organism, pluripotent stem cells offer a unique tool to study molecular and cellular mechanisms related to this global and systemic disease. Recent studies have exploited this potential by generating human induced pluripotent stem cells from HGPS patients' fibroblasts displaying several phenotypic defects characteristic of HGPS such as nuclear abnormalities, progerin expression, altered DNA-repair mechanisms and premature senescence. Altogether, these findings provide new insights on the use of pluripotent stem cells for pathological modelling and may open original therapeutic perspectives for diseases that lack pre-clinical in vitro human models, such as HGPS.

  19. CHARACTERISTICS OF PATIENTS WITH CEREBRAL STROKE OR TRANSIENT ISCHEMIC ATTACK, INCLUDED INTO THE LIS-2 REGISTER (LYUBERTSY STUDY OF MORTALITY IN PATIENTS AFTER STROKE

    Directory of Open Access Journals (Sweden)

    S. Yu. Martsevich

    2015-01-01

    Full Text Available Aim. To provide final data on the three-year period of the inclusion of patients; to give most accurate "portrait" of patients hospitalized with a brain stroke within the framework of the LIS-2 register (Lyubertsy study of mortality in patients after stroke.Material and methods. All patients (n=960 admitted to the Lyubertsy district hospital №2 with stroke for the period from 01.2009 to 12.2011 were included into the study.Results. Men accounted for 37.5%, women - 62.5%, mean age was 71.1±9.8 years. The history of hypertension was present in 833 patients (86.8%, atrial fibrillation in 252 (26.8% patients, 199 (20.7% patients had previously undergone stroke. In-hospital mortality was 21.6% (207 patients had died; mean age 72.9±9.8 years. Low frequency of the antihypertensive therapy (34.5%, lipid-lowering therapy (0.7%, antiplatelet agents (5.7%, anticoagulation therapy prescription in patients with atrial fibrillation was detected.Conclusion. Insufficient assignment of drugs with a proven effect on the prognosis in patients with risk factors prior to the development of the reference stroke draws attention. High incidence of recurrent strokes indicates an underactive secondary prevention.

  20. Emergence of Lamivudine-Resistant HBV during Antiretroviral Therapy Including Lamivudine for Patients Coinfected with HIV and HBV in China.

    Directory of Open Access Journals (Sweden)

    Lijun Gu

    Full Text Available In China, HIV-1-infected patients typically receive antiretroviral therapy (ART that includes lamivudine (3TC as a reverse-transcriptase inhibitor (RTI (ART-3TC. Previous studies from certain developed countries have shown that, in ART-3TC, 3TC-resistant HBV progressively emerges at an annual rate of 15-20% in patients coinfected with HIV-1 and HBV. This scenario in China warrants investigation because >10% of all HIV-infected patients in China are HBV carriers. We measured the occurrence of 3TC-resistant HBV during ART-3TC for HIV-HBV coinfection and also tested the effect of tenofovir disoproxil fumarate (TDF used as an additional RTI (ART-3TC/TDF in a cohort study in China. We obtained 200 plasma samples collected from 50 Chinese patients coinfected with HIV-1 and HBV (positive for hepatitis B surface antigen and examined them for the prevalence of 3TC-resistant HBV by directly sequencing PCR products that covered the HBV reverse-transcriptase gene. We divided the patients into ART-3TC and ART-3TC/TDF groups and compared the efficacy of treatment and incidence of drug-resistance mutation between the groups. HIV RNA and HBV DNA loads drastically decreased in both ART-3TC and ART-3TC/TDF groups. In the ART-3TC group, HBV breakthrough or insufficient suppression of HBV DNA loads was observed in 20% (10/50 of the patients after 96-week treatment, and 8 of these patients harbored 3TC-resistant mutants. By contrast, neither HBV breakthrough nor treatment failure was recorded in the ART-3TC/TDF group. All of the 3TC-resistant HBV mutants emerged from the cases in which HBV DNA loads were high at baseline. Our results clearly demonstrated that ART-3TC is associated with the emergence of 3TC-resistant HBV in patients coinfected with HIV-1 and HBV and that ART-3TC/TDF reduces HBV DNA loads to an undetectable level. These findings support the use of TDF-based treatment regimens for patients coinfected with HIV-1 and HBV.

  1. Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies

    DEFF Research Database (Denmark)

    Zink, A M; Wohlleber, E; Engels, H;

    2014-01-01

    Fragile X syndrome (FXS) is one of the most common causes of intellectual disability/developmental delay (ID/DD), especially in males. It is caused most often by CGG trinucleotide repeat expansions, and less frequently by point mutations and partial or full deletions of the FMR1 gene. The wide...... clinical spectrum of affected females partly depends on their X-inactivation status. Only few female ID/DD patients with microdeletions including FMR1 have been reported. We describe 3 female patients with 3.5-, 4.2- and 9.2-Mb de novo microdeletions in Xq27.3-q28 containing FMR1. X-inactivation was random...... in all patients, yet they presented with ID/DD as well as speech delay, macrocephaly and other features attributable to FXS. No signs of autism were present. Here, we further delineate the clinical spectrum of female patients with microdeletions. FMR1 expression studies gave no evidence for an absolute...

  2. Effect of yoga practices on pulmonary function tests including transfer factor of lung for carbon monoxide (TLCO) in asthma patients.

    Science.gov (United States)

    Singh, Savita; Soni, Ritu; Singh, K P; Tandon, O P

    2012-01-01

    Prana is the energy, when the self-energizing force embraces the body with extension and expansion and control, it is pranayama. It may affect the milieu at the bronchioles and the alveoli particularly at the alveolo-capillary membrane to facilitate diffusion and transport of gases. It may also increase oxygenation at tissue level. Aim of our study is to compare pulmonary functions and diffusion capacity in patients of bronchial asthma before and after yogic intervention of 2 months. Sixty stable asthmatic-patients were randomized into two groups i.e group 1 (Yoga training group) and group 2 (control group). Each group included thirty patients. Lung functions were recorded on all patients at baseline, and then after two months. Group 1 subjects showed a statistically significant improvement (Pyoga practice. Quality of life also increased significantly. It was concluded that pranayama & yoga breathing and stretching postures are used to increase respiratory stamina, relax the chest muscles, expand the lungs, raise energy levels, and calm the body.

  3. Do ICF core sets for low back pain include patients' self-reported activity limitations because of back problems?

    Science.gov (United States)

    Lygren, Hildegunn; Strand, Liv Inger; Anderson, Bodil; Magnussen, Liv Heide

    2014-06-01

    The aim of this study was to investigate content validity of the International Classification of Functioning, Disability and Health (ICF) Core Sets for low back pain (LBP), by examining whether common activities reported as difficult to perform are included in the Core Sets. A cross-sectional design was used. Ninety-eight patients with long-lasting back pain (>3 months) between 18 and 65 years of age were consecutively recruited from a Multidisciplinary Outpatient Spine Clinic. Difficulties with daily life and work task activities because of back pain were examined by asking the patients two questions: 1) can you specify activities that are difficult to perform because of your back pain? and 2) are there specific work tasks that you are unable to do because of your back pain? Two raters independently classified the written responses according to the ICF Core Sets' component Activities and Participation. Activities and work tasks were linked to 15 of 29 categories (52%) in the Comprehensive Core Set, and 9 of 12 (75%) in the Brief Core Set, and the initial agreement between the two raters in coding the answers according to the Core Sets was (83%, k = 0.80) and (93%, k = 0.9), respectively, before consensus was reached. The Comprehensive Core Set for LBP to a large degree contains daily life and work-related activities frequently reported as difficult to perform by patients with long-lasting LBP. The categories, however, are very broad and do not provide specified descriptions of the most frequently reported activity limitations such as sitting, standing and walking. The Brief Core Set does not include categories for frequently reported activities such as pulling/pushing and leisure/recreation activities. ICF Core Sets for LBP seem suitable for obtaining a gross overview of the patients' functional limitations, but do not give sufficient information from a therapeutic point of view. © 2013 John Wiley & Sons, Ltd.

  4. Esophageal atresia with tracheoesophageal fistula in a patient with 7q35-36.3 deletion including SHH gene.

    Science.gov (United States)

    Busa, Tiffany; Panait, Nicoleta; Chaumoitre, Kathia; Philip, Nicole; Missirian, Chantal

    2016-10-01

    Terminal 7q deletion is rarely reported in the literature. Holoprosencephaly and sacral dysgenesis are found in association with this deletion, due to haploinsufficiency of SHH and HLBX9 genes respectively. We report on a 2-year-old boy with 7q35-36.3 deletion encompassing SHH identified by oligonucleotide array comparative genomic hybridization. In addition to other frequent features, the patient presented with esophageal atresia and tracheoeosophageal fistula diagnosed at birth. This case, together with two others previously described, one presenting with esophageal atresia, the other with congenital esophageal stenosis, confirms the possible association between congenital esophageal malformations and 7q terminal deletion including SHH.

  5. Use of the mTOR inhibitor everolimus in a patient with multiple manifestations of tuberous sclerosis complex including epilepsy

    Directory of Open Access Journals (Sweden)

    James W. Wheless

    2015-01-01

    Full Text Available Tuberous sclerosis complex (TSC is a genetic disease in which overactivation of mechanistic target of rapamycin (mTOR signaling leads to the growth of benign hamartomas in multiple organs, including the brain, and is associated with a high rate of epilepsy and neurological deficits. The mTOR inhibitor everolimus has been used in the treatment of subependymal giant cell astrocytomas and renal angiomyolipomas in patients with TSC. This article describes the case of a 13-year-old girl with TSC-associated epilepsy with refractory generalized seizures who initiated treatment with everolimus and experienced subsequent improvement in several TSC manifestations, including a reduction in seizure frequency from clusters of two or three daily to one every 2 to 4 weeks after 1.5 years of treatment.

  6. Clinical Immunology Review Series: an approach to the patient with recurrent orogenital ulceration, including Behçet's syndrome.

    LENUS (Irish Health Repository)

    Keogan, M T

    2009-04-01

    Patients presenting with recurrent orogenital ulcers may have complex aphthosis, Behçet\\'s disease, secondary complex aphthosis (e.g. Reiter\\'s syndrome, Crohn\\'s disease, cyclical neutropenia) or non-aphthous disease (including bullous disorders, erythema multiforme, erosive lichen planus). Behçet\\'s syndrome is a multi-system vasculitis of unknown aetiology for which there is no diagnostic test. Diagnosis is based on agreed clinical criteria that require recurrent oral ulcers and two of the following: recurrent genital ulcers, ocular inflammation, defined skin lesions and pathergy. The condition can present with a variety of symptoms, hence a high index of suspicion is necessary. The most common presentation is with recurrent mouth ulcers, often with genital ulcers; however, it may take some years before diagnostic criteria are met. All patients with idiopathic orogenital ulcers should be kept under review, with periodic focused assessment to detect evolution into Behçet\\'s disease. There is often a delay of several years between patients fulfilling diagnostic criteria and a diagnosis being made, which may contribute to the morbidity of this condition. Despite considerable research effort, the aetiology and pathogenesis of this condition remains enigmatic.

  7. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.

    Science.gov (United States)

    Denora, Paola S; Schlesinger, David; Casali, Carlo; Kok, Fernando; Tessa, Alessandra; Boukhris, Amir; Azzedine, Hamid; Dotti, Maria Teresa; Bruno, Claudio; Truchetto, Jeremy; Biancheri, Roberta; Fedirko, Estelle; Di Rocco, Maja; Bueno, Clarissa; Malandrini, Alessandro; Battini, Roberta; Sickl, Elisabeth; de Leva, Maria Fulvia; Boespflug-Tanguy, Odile; Silvestri, Gabriella; Simonati, Alessandro; Said, Edith; Ferbert, Andreas; Criscuolo, Chiara; Heinimann, Karl; Modoni, Anna; Weber, Peter; Palmeri, Silvia; Plasilova, Martina; Pauri, Flavia; Cassandrini, Denise; Battisti, Carla; Pini, Antonella; Tosetti, Michela; Hauser, Erwin; Masciullo, Marcella; Di Fabio, Roberto; Piccolo, Francesca; Denis, Elodie; Cioni, Giovanni; Massa, Roberto; Della Giustina, Elvio; Calabrese, Olga; Melone, Marina A B; De Michele, Giuseppe; Federico, Antonio; Bertini, Enrico; Durr, Alexandra; Brockmann, Knut; van der Knaap, Marjo S; Zatz, Mayana; Filla, Alessandro; Brice, Alexis; Stevanin, Giovanni; Santorelli, Filippo M

    2009-03-01

    Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families from the Mediterranean basin. We recently showed that ARHSP-TCC is commonly associated with mutations in SPG11/KIAA1840 on chromosome 15q. We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i.e., Italy), and establish whether there is one or more common mutation. In 25 index cases we identified 32 mutations; 22 are novel, including 9 nonsense, 3 small deletions, 4 insertions, 1 in/del, 1 small duplication, 1 missense, 2 splice-site, and for the first time a large genomic rearrangement. This brings the total number of SPG11 mutated patients in the SPATAX collection to 111 cases in 44 families and in 17 isolated cases, from 16 Countries, all assessed using homogeneous clinical criteria. While expanding the spectrum of mutations in SPG11, this larger series also corroborated the notion that even within apparently homogeneous population a molecular diagnosis cannot be achieved without full gene sequencing.

  8. Multi-Modal Imaging Including Optical Coherence Tomography Angiography in Patients With Posterior Multifocal Placoid Pigment Epitheliopathy.

    Science.gov (United States)

    Werner, Jens Ulrich; Enders, Christian; Lang, Gerhard Klaus; Lang, Gabriele Elisabeth

    2017-09-01

    New imaging methods provide novel insights into the pathogenesis of acute posterior multifocal placoid pigment epitheliopathy (APMPPE). Four patients (eight eyes) in acute, subacute, and late phases of the disease were analyzed with multi-modal imaging methods including optical coherence tomography angiography (OCTA), structural OCT, fundus photography, and fundus autofluorescence. One patient was observed during the entire disease course. In acute and subacute phases of the disease, an early blockage in fluorescein angiography was found. OCTA showed perfusion defects in choriocapillaris and choroid slabs. During the course of disease, perfusion deficits observed in OCTA imaging resolved first in the choroid and then in the choriocapillaris slab. Multi-modal imaging including OCTA supports the thesis that the underlying pathology of APMPPE is an inflammatory impairment of the choroidal circulation with secondary damage to the outer retina. OCTA might be able to replace fluorescein and indocyanine angiography in the diagnostic work-up of APMPPE. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:727-733.]. Copyright 2017, SLACK Incorporated.

  9. [Baseline characteristics and changes in treatment after a period of optimization of the patients included in the study EFICAR].

    Science.gov (United States)

    Gómez-Marcos, Manuel A; Agudo-Conde, Cristina; Torcal, Jesús; Echevarria, Pilar; Domingo, Mar; Arietaleanizbeascoa, María; Sanz-Guinea, Aitor; de la Torre, Maria M; Ramírez, Jose I; García-Ortiz, Luis

    2016-03-01

    To describe the baseline date and drugs therapy changes during treatment optimization in patients with heart failure with depressed systolic function included in the EFICAR study. Multicenter randomized clinical trial. Seven Health Centers. 150 patients (ICFSD) age 68±10 years, 77% male. Sociodemographic variables, comorbidities (Charlson index), functional capacity and quality of life. Drug therapy optimization was performed. The main etiology was ischemic heart disease (45%), with 89% in functional class II. The Charlson index was 2.03±1.05. The ejection fraction mean was 37%±8, 19% with ejection fraction <30%. With the stress test 6.3±1.6 mean was reached, with the 6 minutes test 446±78 meters and the chair test 13.7±4.4 seconds. The overall quality of life with ejection fraction was 22.8±18.7 and with the Short Form-36 Health Survey, physical health 43.3±8.4 and mental health 50.1±10.6. After optimizing the treatment, the percentage of patients on drugs therapy and the dose of angiotensin converting enzyme inhibitors, angiotensin II receptor antagonists and beta-blockers were not changed. The majority of the subjects are in functional class II, with functional capacity and quality of life decreased and comorbidity index high. A protocolized drug therapy adjustment did not increase the dose or number of patients with effective drugs for heart failure with depressed systolic function. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

  10. Effect of yoga regimen on lung functions including diffusion capacity in coronary artery disease patients: A randomized controlled study.

    Science.gov (United States)

    Yadav, Asha; Singh, Savita; Singh, Kp; Pai, Preeti

    2015-01-01

    Lung functions are found to be impaired in coronary artery disease (CAD), congestive heart failure, left ventricular dysfunction, and after cardiac surgery. Diffusion capacity progressively worsens as the severity of CAD increases due to reduction in lung tissue participating in gas exchange. Pranayama breathing exercises and yogic postures may play an impressive role in improving cardio-respiratory efficiency and facilitating gas diffusion at the alveolo-capillary membrane. This study was done to see the effect of yoga regimen on lung functions particularly diffusion capacity in CAD patients. A total of 80 stable CAD patients below 65 years of age of both sexes were selected and randomized into two groups of 40 each. Group I CAD patients were given yoga regimen for 3 months which consisted of yogic postures, pranayama breathing exercises, dietary modification, and holistic teaching along with their conventional medicine while Group II CAD patients were put only on conventional medicine. Lung functions including diffusion capacity were recorded thrice in both the groups: 0 day as baseline, 22(nd) day and on 90(th) day by using computerized MS medisoft Cardio-respiratory Instrument, HYP'AIR Compact model of cardio-respiratory testing machine was manufactured by P K Morgan, India. The recorded parameters were statistically analyzed by repeated measures ANOVA followed by Tukey's test in both the groups. Cardiovascular parameters were also compared before and after intervention in both the groups. Statistically significant improvements were seen in slow vital capacity, forced vital capacity, peak expiratory flow rate, maximum voluntary ventilation, and diffusion factor/ transfer factor of lung for carbon monoxide after 3 months of yoga regimen in Group I. Forced expiratory volume in 1(st) sec (FEV1), and FEV1 % also showed a trend toward improvement although not statistically significant. HR, SBP and DBP also showed significant improvement in Group-I patients who

  11. In vitro activity of ceftazidime/avibactam against Gram-negative pathogens isolated from pneumonia in hospitalised patients, including ventilated patients.

    Science.gov (United States)

    Flamm, Robert K; Nichols, Wright W; Sader, Helio S; Farrell, David J; Jones, Ronald N

    2016-03-01

    The activities of the novel β-lactam/non-β-lactam β-lactamase inhibitor combination ceftazidime/avibactam and comparators were evaluated against isolates from pneumonia in hospitalised patients including ventilated patients (PHP, pneumonia not designated as VABP; VABP, pneumonia in ventilated patients). Isolates were from the European-Mediterranean region (EuM), China and the USA collected in the SENTRY Antimicrobial Surveillance Program between 2009 and 2011 inclusive. A total of 2393 organisms from PHP were from the EuM, 888 from China and 3213 from the USA; from VABP patients there were 918, 97 and 692 organisms collected, respectively. Among Enterobacteriaceae from PHP, ceftazidime/avibactam MIC90 values against Escherichia coli ranged from 0.25-0.5mg/L and Klebsiella spp. MIC90 values were 0.5mg/L in each region. Among VABP isolates, MIC90 values for ceftazidime/avibactam against E. coli were 0.25mg/L; for Klebsiella spp. from VABP patients, MIC90 values were similar to those obtained against PHP isolates. The MIC of ceftazidime/avibactam was ≤8mg/L against 92-96% of Pseudomonas aeruginosa isolated from PHP patients. Isolates of P. aeruginosa from VABP patients were of lower susceptibility to all antibacterial agents (e.g. depending on region, meropenem susceptibilities were 51.2-69.4% in contrast to 68.3-76.7% among PHP patients). However, ceftazidime/avibactam inhibited 79.2-95.4% of VABP isolates at an MIC of ≤8mg/L. Acinetobacter spp. were resistant to many agents and only rates of susceptibility to colistin were >90% across all regions both for PHP and VABP isolates. Ceftazidime/avibactam was generally active against a high proportion of isolates resistant to ceftazidime from PHP and VAPB patients.

  12. Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

    Science.gov (United States)

    Nava, C; Lamari, F; Héron, D; Mignot, C; Rastetter, A; Keren, B; Cohen, D; Faudet, A; Bouteiller, D; Gilleron, M; Jacquette, A; Whalen, S; Afenjar, A; Périsse, D; Laurent, C; Dupuits, C; Gautier, C; Gérard, M; Huguet, G; Caillet, S; Leheup, B; Leboyer, M; Gillberg, C; Delorme, R; Bourgeron, T; Brice, A; Depienne, C

    2012-01-01

    The striking excess of affected males in autism spectrum disorders (ASD) suggests that genes located on chromosome X contribute to the etiology of these disorders. To identify new X-linked genes associated with ASD, we analyzed the entire chromosome X exome by next-generation sequencing in 12 unrelated families with two affected males. Thirty-six possibly deleterious variants in 33 candidate genes were found, including PHF8 and HUWE1, previously implicated in intellectual disability (ID). A nonsense mutation in TMLHE, which encodes the ɛ-N-trimethyllysine hydroxylase catalyzing the first step of carnitine biosynthesis, was identified in two brothers with autism and ID. By screening the TMLHE coding sequence in 501 male patients with ASD, we identified two additional missense substitutions not found in controls and not reported in databases. Functional analyses confirmed that the mutations were associated with a loss-of-function and led to an increase in trimethyllysine, the precursor of carnitine biosynthesis, in the plasma of patients. This study supports the hypothesis that rare variants on the X chromosome are involved in the etiology of ASD and contribute to the sex-ratio disequilibrium. PMID:23092983

  13. Anticoagulation Stability Depends on CHADS2 Score and Hepatorenal Function in Warfarin-treated Patients, Including Those with Atrial Fibrillation

    Science.gov (United States)

    Odashiro, Keita; Fukata, Mitsuhiro; Arita, Takeshi; Maruyama, Toru; Akashi, Koichi

    2017-01-01

    Aim: Although warfarin remains important despite the widespread use of nonvitamin K antagonist oral anticoagulants (NOACs), to date, the reality of warfarin use in the “NOACs era” is unclear. This multicenter observational study aimed to clarify the key factors contributing to warfarin treatment stability. Methods: The practical use of warfarin, stability of warfarin therapy, and factors contributing to this stability were investigated in community-based hospitals through a real-world study. Clinical data were retrospectively extracted from the medical records of warfarin-treated Japanese patients (age, 71.3 ± 5.5 years) with atrial fibrillation (AF), prosthetic heart valve, or other concerns requiring anticoagulation. Treatment stability was considered as time in therapeutic range of international normalized ratio of prothrombin time (TTR: %). The factors contributing to TTR were investigated, including CHADS2 score components. Results: Mean CHADS2 score was highest (1.38 ± 0.88, p antiplatelet agents did not correlate with the low TTR. Conclusions: This retrospective study demonstrated that the CHADS2 score component accumulation and hepatorenal dysfunction are factors significantly contributing to the low TTR, which is indicative of poor warfarin treatment stability, in patients such as those with AF. PMID:27319745

  14. Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.

    Science.gov (United States)

    Nava, C; Lamari, F; Héron, D; Mignot, C; Rastetter, A; Keren, B; Cohen, D; Faudet, A; Bouteiller, D; Gilleron, M; Jacquette, A; Whalen, S; Afenjar, A; Périsse, D; Laurent, C; Dupuits, C; Gautier, C; Gérard, M; Huguet, G; Caillet, S; Leheup, B; Leboyer, M; Gillberg, C; Delorme, R; Bourgeron, T; Brice, A; Depienne, C

    2012-10-23

    The striking excess of affected males in autism spectrum disorders (ASD) suggests that genes located on chromosome X contribute to the etiology of these disorders. To identify new X-linked genes associated with ASD, we analyzed the entire chromosome X exome by next-generation sequencing in 12 unrelated families with two affected males. Thirty-six possibly deleterious variants in 33 candidate genes were found, including PHF8 and HUWE1, previously implicated in intellectual disability (ID). A nonsense mutation in TMLHE, which encodes the ɛ-N-trimethyllysine hydroxylase catalyzing the first step of carnitine biosynthesis, was identified in two brothers with autism and ID. By screening the TMLHE coding sequence in 501 male patients with ASD, we identified two additional missense substitutions not found in controls and not reported in databases. Functional analyses confirmed that the mutations were associated with a loss-of-function and led to an increase in trimethyllysine, the precursor of carnitine biosynthesis, in the plasma of patients. This study supports the hypothesis that rare variants on the X chromosome are involved in the etiology of ASD and contribute to the sex-ratio disequilibrium.

  15. Patients with neuromyelitis optica have a more severe disease than patients with relapsingremitting multiple sclerosis, including higher risk of dying of a demyelinating disease

    Directory of Open Access Journals (Sweden)

    Denis Bernardi Bichuetti

    2013-05-01

    Full Text Available Although neuromyelitis optica (NMO is known to be a more severe disease than relapsing-remitting multiple sclerosis (RRMS, few studies comparing both conditions in a single center have been done. Methods: Comparison of our previously published cohort of 41 NMO patients with 177 RRMS patients followed in the same center, from 1994 to 2007. Results: Mean age of onset was 32.6 for NMO and 30.2 for RRMS (p=0.2062 with mean disease duration of 7.4 years for NMO and 10.3 years for RRMS. Patients with NMO had a higher annualized relapse rate (1.0 versus 0.8, p=0.0013 and progression index (0.9 versus 0.6, p≪0.0001, with more patients reaching expanded disability status scale (EDSS 6.0 (39 versus 17%, p=0.0036. The odds ratio for reaching EDSS 6.0 and being deceased due to NMO in comparison to RRMS were, respectively, 3.14 and 12.15. Conclusion: Patients with NMO have a more severe disease than patients with RRMS, including higher risk of dying of a demyelinating disease.

  16. Abnormal distribution of AQP5 in labial salivary glands is associated with poor saliva secretion in patients with Sjögren's syndrome including neuromyelitis optica complicated patients.

    Science.gov (United States)

    Yoshimura, Shunsuke; Nakamura, Hideki; Horai, Yoshiro; Nakajima, Hideki; Shiraishi, Hirokazu; Hayashi, Tomayoshi; Takahashi, Toshiyuki; Kawakami, Atsushi

    2016-01-01

    To investigate whether aquaporins (AQPs) are involved in salivary gland dysfunction in patients with neuromyelitis optica (NMO) complicated with Sjögren's syndrome (SS). Eight primary SS (pSS) patients, four NMO spectrum disorder (NMOsd) patients complicated with SS (NMOsd-SS), and three control subjects were enrolled. Immunohistochemistry of labial salivary glands (LSGs) was performed to determine the expressions of AQP4, AQP5, and tumor necrosis factor-alpha (TNF-α). In vitro expression of AQP5 was examined by Western blotting in cultured primary salivary gland epithelial cells (SGECs). No expression of AQP4 was shown in all LSGs. AQP5 was clearly expressed in the all acini, but the predominant localization of AQP5 in the apical side was diminished in the patients with pSS or NMOsd-SS compared with the controls and tended to be even lower in NMOsd-SS than pSS. The abnormal localization of AQP5 was associated with poor saliva secretion. No difference was found in TNF-α expression in the LSGs between patients with pSS and NMOsd-SS. AQP5 expression of SGECs in vitro was not changed by TNF-α or interleukin-10. Our results suggest that AQP5 but not AQP4 contributes to salivary secretion in patients with SS including those with NMO complicated with SS.

  17. Economic analysis including long-term risks and costs of alternative diagnostic strategies to evaluate patients with chest pain

    Science.gov (United States)

    Bedetti, Gigliola; Pasanisi, Emilio Maria; Pizzi, Carmine; Turchetti, Giuseppe; Loré, Cosimo

    2008-01-01

    Background Diagnosis costs for cardiovascular disease waste a large amount of healthcare resources. The aim of the study is to evaluate the clinical and economic outcomes of alternative diagnostic strategies in low risk chest pain patients. Methods We evaluated direct and indirect downstream costs of 6 strategies: coronary angiography (CA) after positive troponin I or T (cTn-I or cTnT) (strategy 1); after positive exercise electrocardiography (ex-ECG) (strategy 2); after positive exercise echocardiography (ex-Echo) (strategy 3); after positive pharmacologic stress echocardiography (PhSE) (strategy 4); after positive myocardial exercise stress single-photon emission computed tomography with technetium Tc 99m sestamibi (ex-SPECT-Tc) (strategy 5) and direct CA (strategy 6). Results The predictive accuracy in correctly identifying the patients was 83,1% for cTn-I, 87% for cTn-T, 85,1% for ex-ECG, 93,4% for ex-Echo, 98,5% for PhSE, 89,4% for ex-SPECT-Tc and 18,7% for CA. The cost per patient correctly identified results $2.051 for cTn-I, $2.086 for cTn-T, $1.890 for ex-ECG, $803 for ex-Echo, $533 for PhSE, $1.521 for ex-SPECT-Tc ($1.634 including cost of extra risk of cancer) and $29.673 for CA ($29.999 including cost of extra risk of cancer). The average relative cost-effectiveness of cardiac imaging compared with the PhSE equal to 1 (as a cost comparator), the relative cost of ex-Echo is 1.5×, of a ex-SPECT-Tc is 3.1×, of a ex-ECG is 3.5×, of cTnI is ×3.8, of cTnT is ×3.9 and of a CA is 56.3×. Conclusion Stress echocardiography based strategies are cost-effective versus alternative imaging strategies and the risk and cost of radiation exposure is void. PMID:18510723

  18. Economic analysis including long-term risks and costs of alternative diagnostic strategies to evaluate patients with chest pain

    Directory of Open Access Journals (Sweden)

    Pizzi Carmine

    2008-05-01

    Full Text Available Abstract Background Diagnosis costs for cardiovascular disease waste a large amount of healthcare resources. The aim of the study is to evaluate the clinical and economic outcomes of alternative diagnostic strategies in low risk chest pain patients. Methods We evaluated direct and indirect downstream costs of 6 strategies: coronary angiography (CA after positive troponin I or T (cTn-I or cTnT (strategy 1; after positive exercise electrocardiography (ex-ECG (strategy 2; after positive exercise echocardiography (ex-Echo (strategy 3; after positive pharmacologic stress echocardiography (PhSE (strategy 4; after positive myocardial exercise stress single-photon emission computed tomography with technetium Tc 99m sestamibi (ex-SPECT-Tc (strategy 5 and direct CA (strategy 6. Results The predictive accuracy in correctly identifying the patients was 83,1% for cTn-I, 87% for cTn-T, 85,1% for ex-ECG, 93,4% for ex-Echo, 98,5% for PhSE, 89,4% for ex-SPECT-Tc and 18,7% for CA. The cost per patient correctly identified results $2.051 for cTn-I, $2.086 for cTn-T, $1.890 for ex-ECG, $803 for ex-Echo, $533 for PhSE, $1.521 for ex-SPECT-Tc ($1.634 including cost of extra risk of cancer and $29.673 for CA ($29.999 including cost of extra risk of cancer. The average relative cost-effectiveness of cardiac imaging compared with the PhSE equal to 1 (as a cost comparator, the relative cost of ex-Echo is 1.5×, of a ex-SPECT-Tc is 3.1×, of a ex-ECG is 3.5×, of cTnI is ×3.8, of cTnT is ×3.9 and of a CA is 56.3×. Conclusion Stress echocardiography based strategies are cost-effective versus alternative imaging strategies and the risk and cost of radiation exposure is void.

  19. Population structure and characterization of viridans group streptococci (VGS) including Streptococcus pneumoniae isolated from adult patients with cystic fibrosis (CF).

    Science.gov (United States)

    Maeda, Yasunori; Elborn, J Stuart; Parkins, Michael D; Reihill, James; Goldsmith, Colin E; Coulter, Wilson A; Mason, Charlene; Millar, B Cherie; Dooley, James S G; Lowery, Colm J; Ennis, Madeleine; Rendall, Jacqueline C; Moore, John E

    2011-03-01

    A study was undertaken to examine the population structure of viridans group streptococci (VGS) in the sputum of adult patients with cystic fibrosis (CF). Freshly expectorated sputa (n=58) from 45 adult CF patients were examined by selective conventional culture on Mitis-Salivarius agar and yielded 190 isolates of VGS. Sequence analyses of the rpnB and 16-23S rRNA ITS genes identified these isolates to belong to 12 species of VGS and included S. anginosus, S. australis, S. cristatus, S. gordonii, S. infantis, S. mitis, S. mutans, S. oralis, S. parasanguinis, S. pneumoniae, S. salivarius and S. sanguinis. The most frequently VGS organism isolated was S. salivarius (47/190; 24.7%), followed by S. mitis (36/190; 19%), S. sanguinis (25/190; 13.2%), S. oralis (20/190; 11.0%), S. pneumoniae (19/190; 10.0%), S. parasanguinis (16/190; 8.4%), S. infantis (11/190; 5.8%), S. gordonii (7/190; 3.7%), S. anginosus (4/190; 2.1%), S. cristatus (2/190; 1.1%), S. australis (1/190; 0.5%), S. mutans (1/190; 0.5%) and S. agalactiae (1/190; 0.5%). All, but four, patients harboured at least one VGS species, which ranged from one to five streptococcal species, with a mean of 2.85 species per patient. There was no clonality at the subspecies level employing ERIC RAPD PCR. Antibiotic susceptibility was determined by Minimum Inhibitory Concentration (MIC) testing against penicillin, erythromycin and ciprofloxacin. Overall, resistance to penicillin with all VGS was 73/190 (38.4%) and 167/190 (87.9%) for erythromycin. With regard to ciprofloxacin, 27/190 (14.2%) were fully resistant, whilst a further 21/190 (11.1%) showed intermediate resistance, which equated to approximately three quarters (74.7%) of isolates being fully sensitive to this agent. In addition, as a comparator control population, we examined antibiotic susceptibility, as above, in a non-CF population comprising 12 individuals (50 VGS isolates), who were not receiving chronic antibiotics. In comparison, 8% and 38% of VGS

  20. Psychological factors, including alexithymia, in the prediction of cardiovascular risk in HIV infected patients: results of a cohort study.

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    Giustino Parruti

    Full Text Available BACKGROUND: Psychological factors are known predictors of cardiovascular disease in many clinical settings, but data are lacking for HIV infection. We carried out a prospective cohort study to evaluate potential psychological predictors of preclinical and clinical vascular disease in HIV patients. METHODOLOGY/PRINCIPAL FINDINGS: HIV patients were consecutively enrolled. Demographics, viral and immune parameters and traditional cardiovascular predictors were considered; Intima-Media Thickness (c-IMT, continuous measure and Carotid Plaques (CPs, focal thickening ≥1.5 mm were investigated by B-mode ultrasonography; depressive symptoms by the Beck Depression Inventory (BDI-II, Type D personality (Distressed Personality or Type D by the DS14, alexithymia by the Toronto Alexithymia Scale (TAS-20. Vascular outcomes included transient ischemic attacks or stroke, acute coronary syndrome, myocardial or other organ infarction. We enrolled 232 HIV subjects, 73.9% males, aged 44.5±9.9 y, 38.2% with AIDS diagnosis, 18.3% untreated. Mean Nadir CD4 T-cell counts were 237.5±186.2/mmc. Of them, 224 (96.5% attended IMT measurements; 201 (86.6% attended both IMT assessment and psychological profiling. Mean follow-up was 782±308 days. Fifty-nine patients (29.4% had CPs at baseline. Nineteen patients (9.5% had ≥1 vascular event; 12 (6.0% died due to such events (n = 4 or any cause. At baseline cross-sectional multivariate analysis, increasing age, total cholesterol, current smoking and Alexithymia score≥50 were significantly associated with both increased cIMT (linear regression and CPs (logistic regression. At follow-up analysis, log-rank tests and Cox's regression revealed that only older age (p = 0.001, current smoking (p = 0.019 and alexithymia score≥50 (p = 0.013 were independently associated with vascular events. CONCLUSIONS/SIGNIFICANCE: In HIV-infected subjects, the Alexithymic trait emerges as a strong predictor of increased IMT, presence of CPs

  1. Characterization of Patients With Lupus Nephritis Included in a Large Cohort From the Spanish Society of Rheumatology Registry of Patients With Systemic Lupus Erythematosus (RELESSER).

    Science.gov (United States)

    Galindo-Izquierdo, María; Rodriguez-Almaraz, Esther; Pego-Reigosa, José M; López-Longo, Francisco J; Calvo-Alén, Jaime; Olivé, Alejandro; Fernández-Nebro, Antonio; Martinez-Taboada, Víctor; Vela-Casasempere, Paloma; Freire, Mercedes; Narváez, Francisco J; Rosas, José; Ibáñez-Barceló, Mónica; Uriarte, Esther; Tomero, Eva; Zea, Antonio; Horcada, Loreto; Torrente, Vicenç; Castellvi, Iván; Calvet, Joan; Menor-Almagro, Raúl; Zamorano, María A Aguirre; Raya, Enrique; Díez-Álvarez, Elvira; Vázquez-Rodríguez, Tomás; García de la Peña, Paloma; Movasat, Atusa; Andreu, José L; Richi, Patricia; Marras, Carlos; Montilla-Morales, Carlos; Hernández-Cruz, Blanca; Marenco de la Fuente, José L; Gantes, María; Úcar, Eduardo; Alegre-Sancho, Juan J; Manero, Javier; Ibáñez-Ruán, Jesús; Rodríguez-Gómez, Manuel; Quevedo, Víctor; Hernández-Beriaín, José; Silva-Fernández, Lucía; Alonso, Fernando; Pérez, Sabina; Rúa-Figueroa, Iñigo

    2016-03-01

    The aim of the study was to profile those patients included in the RELESSER registry with histologically proven renal involvement in order to better understand the current state of lupus nephritis (LN) in Spain. RELESSER-TRANS is a multicenter cross-sectional registry with an analytical component. Information was collected from the medical records of patients with systemic lupus erythematosus who were followed at participating rheumatology units. A total of 359 variables including demographic data, clinical manifestations, disease activity, severity, comorbidities, LN outcome, treatments, and mortality were recorded. Only patients with a histological confirmation of LN were included. We performed a descriptive analysis, chi-square or Student's t tests according to the type of variable and its relationship with LN. Odds ratio and confidence intervals were calculated by using simple logistic regression. LN was histologically confirmed in 1092/3575 patients (30.5%). Most patients were female (85.7%), Caucasian (90.2%), and the mean age at LN diagnosis was 28.4 ± 12.7 years. The risk for LN development was higher in men (M/F:47.85/30.91%, P kidney transplant in 45% of such cases. The older the patient, the greater was the likelihood of complete response (P < 0.001). Recurrences were associated with persistent lupus activity at the time of the last visit (P < 0.001) and with ESRD (P < 0.001). Thrombotic microangiopathy was a risk factor for ESRD (P = 0.04), as for the necessity of dialysis (P = 0.01) or renal transplantation (P = 0.03). LN itself was a poor prognostic risk factor of mortality (OR 2.4 [1.81-3.22], P < 0.001). Patients receiving antimalarials had a significantly lower risk of developing LN (P < 0.001) and ESRD (P < 0.001), and responded better to specific treatments for LN (P = 0.014). More than two-thirds of the patients with LN from a wide European cohort achieved a complete response to treatment. The

  2. La dieta del paciente renal: ¿Se puede incluir pescado? Renal patient's diet: Can fish be included?

    Directory of Open Access Journals (Sweden)

    M. I. Castro González

    2012-10-01

    underlying pathologies. Objective: To analyze ten fish species to identify those that, because of their low phosphorus content, high biological value protein and elevated n-3 fatty acids EPA and DHA, could be included in renal patient's diet. Materials and methods: The following fish species (Litte tunny, Red drum, Spotted eagleray, Escolar, Swordfish, Big-scale pomfret, Cortez flounder, Largemouth blackbass, Periche mojarra, Florida Pompano were analyzed according to the AOAC and Keller techniques to determine their protein, phosphorus, sodium, potassium, cholesterol, vitamins D3 and E, and n-3 EPA+DHA content. These results were used to calculate relations between nutrients. Results: The protein in the analyzed species ranged from 16.5 g/100 g of fillet (Largemouth black bass to 27.2 g/100 g (Red drum; the lowest phosphorus value was 28.6 mg/100 g (Periche mojarra and the highest 216.3 mg/100 g (Spotted eagle ray. 80% of the fish presented > 100 mg EPA + DHA in 100 g of fillet. By its Phosphorus/gProtein ratio, Escolar and Swordfish could not be included in the renal diet; Little tunny, Escolar, Big-scale pomfret, Largemouth black-bass, Periche mojarra and Florida Pompano presented a lower Phosphorus/EPA + DHA ratio. Conclusions: Florida pompano is the most recommended specie for renal patients, due to its optimal nutrient relations. However, all analyzed species, except Escolar and Swordfish, could be included in renal diets.

  3. Phase 2 study of the JAK kinase inhibitor ruxolitinib in patients with refractory leukemias, including postmyeloproliferative neoplasm acute myeloid leukemia

    Science.gov (United States)

    Eghtedar, Alireza; Verstovsek, Srdan; Estrov, Zeev; Burger, Jan; Cortes, Jorge; Bivins, Carol; Faderl, Stefan; Ferrajoli, Alessandra; Borthakur, Gautam; George, Solly; Scherle, Peggy A.; Newton, Robert C.; Kantarjian, Hagop M.

    2012-01-01

    We conducted a phase 2 study of ruxolitinib in patients with relapsed/refractory leukemias. Patients with acceptable performance status (0-2), adequate organ function, and no active infection, received ruxolitinib 25 mg orally twice a day for 4 weeks (1 cycle). Response was assessed after every 2 cycles of treatment, and patients who completed 2 cycles were allowed to continue treatment until disease progression. Dose escalation to 50 mg twice daily was permitted in patients demonstrating a benefit. Thirty-eight patients, with a median age of 69 years (range, 45-88), were treated. The median number of prior therapies was 2 (range, 1-6). Twelve patients had JAK2V617F mutation. Patients received a median of 2 cycles of therapy (range, 1-22). Three of 18 patients with postmyeloproliferative neoplasm (MPN) acute myeloid leukemia (AML) showed a significant response; 2 achieved complete remission (CR) and one achieved a CR with insufficient recovery of blood counts (CRi). The responding patients with palpable spleens also had significant reductions in spleen size. Overall, ruxolitinib was very well tolerated with only 4 patients having grade 3 or higher toxicity. Ruxolitinib has modest antileukemic activity as a single agent, particularly in patients with post-MPN AML. The study was registered at www.clinicaltrials.gov as NCT00674479. PMID:22422826

  4. Phase 2 study of the JAK kinase inhibitor ruxolitinib in patients with refractory leukemias, including postmyeloproliferative neoplasm acute myeloid leukemia.

    Science.gov (United States)

    Eghtedar, Alireza; Verstovsek, Srdan; Estrov, Zeev; Burger, Jan; Cortes, Jorge; Bivins, Carol; Faderl, Stefan; Ferrajoli, Alessandra; Borthakur, Gautam; George, Solly; Scherle, Peggy A; Newton, Robert C; Kantarjian, Hagop M; Ravandi, Farhad

    2012-05-17

    We conducted a phase 2 study of ruxolitinib in patients with relapsed/refractory leukemias. Patients with acceptable performance status (0-2), adequate organ function, and no active infection, received ruxolitinib 25 mg orally twice a day for 4 weeks (1 cycle). Response was assessed after every 2 cycles of treatment, and patients who completed 2 cycles were allowed to continue treatment until disease progression. Dose escalation to 50 mg twice daily was permitted in patients demonstrating a benefit. Thirty-eight patients, with a median age of 69 years (range, 45-88), were treated. The median number of prior therapies was 2 (range, 1-6). Twelve patients had JAK2V617F mutation. Patients received a median of 2 cycles of therapy (range, 1-22). Three of 18 patients with postmyeloproliferative neoplasm (MPN) acute myeloid leukemia (AML) showed a significant response; 2 achieved complete remission (CR) and one achieved a CR with insufficient recovery of blood counts (CRi). The responding patients with palpable spleens also had significant reductions in spleen size. Overall, ruxolitinib was very well tolerated with only 4 patients having grade 3 or higher toxicity. Ruxolitinib has modest antileukemic activity as a single agent, particularly in patients with post-MPN AML. The study was registered at www.clinicaltrials.gov as NCT00674479.

  5. [Influence of combined rehabilitation treatment including novel non-pharmacological technologies on immune system of patients with seronegetive spondylarthritis].

    Science.gov (United States)

    Barnatskiĭ, V V; Grigor'eva, V D; Pershin, S B; Derevnina, N A; Gontar', E B

    2005-01-01

    The immune system was studied in 90 patients with seronegative spondylarthritis (SNSA). Of them, 60 patients had ankylosing spondylarthritis (30 patients with central and 30 patients with peripheral forms) and 30 patients with reactive arthritis. SNSA patients were found to have secondary immunodeficiency. Cellular immunity was characterized by a decreased count of T mu (helper cells), an increased count of T gamma (cytotoxic/suppressors) and suppressed functional activity of lymphocytes, humoral immunity--by a high concentration of circulating immune complexes in an increased concentration of serum immunoglobulins. Integral assessment of the changes in the immune system and clinical data in SNSA patients leads to the conclusion that water radon baths and decimetric wave therapy reach the highest efficacy in ankylosing spondylarthritis while water radon baths and low frequency ultrasound--in reactive arthritis, a complex of water radon baths and ultraphonophoresis of hydrocortisone--in ankylosing spondylarthritis and reactive arthritis.

  6. Self-management interventions including action plans for exacerbations versus usual care in patients with chronic obstructive pulmonary disease.

    Science.gov (United States)

    Lenferink, Anke; Brusse-Keizer, Marjolein; van der Valk, Paul Dlpm; Frith, Peter A; Zwerink, Marlies; Monninkhof, Evelyn M; van der Palen, Job; Effing, Tanja W

    2017-08-04

    Chronic Obstructive Pulmonary Disease (COPD) self-management interventions should be structured but personalised and often multi-component, with goals of motivating, engaging and supporting the patients to positively adapt their behaviour(s) and develop skills to better manage disease. Exacerbation action plans are considered to be a key component of COPD self-management interventions. Studies assessing these interventions show contradictory results. In this Cochrane Review, we compared the effectiveness of COPD self-management interventions that include action plans for acute exacerbations of COPD (AECOPD) with usual care. To evaluate the efficacy of COPD-specific self-management interventions that include an action plan for exacerbations of COPD compared with usual care in terms of health-related quality of life, respiratory-related hospital admissions and other health outcomes. We searched the Cochrane Airways Group Specialised Register of trials, trials registries, and the reference lists of included studies to May 2016. We included randomised controlled trials evaluating a self-management intervention for people with COPD published since 1995. To be eligible for inclusion, the self-management intervention included a written action plan for AECOPD and an iterative process between participant and healthcare provider(s) in which feedback was provided. We excluded disease management programmes classified as pulmonary rehabilitation or exercise classes offered in a hospital, at a rehabilitation centre, or in a community-based setting to avoid overlap with pulmonary rehabilitation as much as possible. Two review authors independently assessed trial quality and extracted data. We resolved disagreements by reaching consensus or by involving a third review author. Study authors were contacted to obtain additional information and missing outcome data where possible. When appropriate, study results were pooled using a random-effects modelling meta-analysis. The primary

  7. Comparison of treatment outcome in metastatic colorectal cancer patients included in a clinical trial versus daily practice in The Netherlands

    NARCIS (Netherlands)

    Mol, L.; Koopman, M.; Gils, C.W. van; Ottevanger, P.B.; Punt, C.J.A.

    2013-01-01

    Abstract The external validity of trial results is a matter of debate, and no strong evidence is available to support whether a trial may have a positive or a negative effect on the outcome of patients. Methods. We compared the results of stage IV colorectal cancer patients treated within a large

  8. Molecular pathology of haemophilia B: identification of five novel mutations including a LINE 1 insertion in Indian patients.

    NARCIS (Netherlands)

    Mukherjee, S.; Mukhopadhyay, A.; Banerjee, D.; Chandak, G.R.; Ray, K.

    2004-01-01

    Heterogeneous mutations in factor IX (FIX) gene cause haemophilia B and a large number of mutations have been characterized. However, reports on gene defects among Indian haemophilia B patients are rare despite a high estimate of such patients in the country. We report identification of 22 independe

  9. Cold antibody autoimmune hemolytic anemia and lymphoproliferative disorders: a retrospective study of 20 patients including clinical, hematological, and molecular findings.

    Science.gov (United States)

    Arthold, Cathrin; Skrabs, Cathrin; Mitterbauer-Hohendanner, Gerlinde; Thalhammer, Renate; Simonitsch-Klupp, Ingrid; Panzer, Simon; Valent, Peter; Lechner, Klaus; Jäger, Ulrich; Sillaber, Christian

    2014-06-01

    A total of 20 patients with cold antibody hemolytic anemia were evaluated in a retrospective study of them, 15 had a monoclonal gammopathy of unknown significance (MGUS): 14 with MGUS of immunoglobulin M (IgM) subtype and 1 with immunoglobulin G subtype. One patient had smoldering Waldenström's macroglobulinemia, but four patients had no monoclonal protein and no evidence of lymphoma. However, in three of these patients, we were able to demonstrate a (mono-)clonal rearrangement of their immunoglobulin heavy and/or light chains. Of the 20 patients, 5 had IgHV34 nucleotide sequence indicating that the antibody was directed against the "I" antigen. Two patients exhibited a progressive increase of IgM over time, however without increasing hemolytic activity. Moreover, in two patients with long-term follow-up, we were able to correlate recurrent hemolytic activity with low environmental temperatures. Among four patients treated with rituximab, all four responded to treatment. However, treatment effect was only transient in all of them.

  10. Varied autopsy findings in five treated patients with Gaucher disease and parkinsonism include the absence of Gaucher cells.

    Science.gov (United States)

    Monestime, Gianina; Borger, Daniel K; Kim, Jenny; Lopez, Grisel; Allgaeuer, Michael; Jain, Dhanpat; Vortmeyer, Alexander; Wang, Hao-Wei; Sidransky, Ellen

    2016-05-01

    Enzyme replacement therapy is standard of care for patients with Gaucher disease, as it significantly improves skeletal, visceral, and hematological symptoms. Few pathological studies have documented the extent of pathological findings in treated patients. Autopsy findings in five treated patients, who ultimately developed parkinsonism, ranged from the complete absence of Gaucher pathology to extensive involvement of multiple tissues, without correlation to age, genotype, spleen status, or dose/duration of therapy. Additional autopsies may elucidate modifiers and biomarkers contributing to disease burden and response to therapy.

  11. Bleeding after initiation of multiple antithrombotic drugs, including triple therapy, in atrial fibrillation patients following myocardial infarction and coronary intervention

    DEFF Research Database (Denmark)

    Lamberts, Morten; Olesen, Jonas Bjerring; Ruwald, Martin Huth;

    2012-01-01

    Uncertainty remains over optimal antithrombotic treatment of patients with atrial fibrillation presenting with myocardial infarction and/or undergoing percutaneous coronary intervention. We investigated the risk and time frame for bleeding following myocardial infarction/percutaneous coronary int...

  12. Is There a Need for Including Spiritual Care in Interdisciplinary Rehabilitation of Chronic Pain Patients? Investigating an Innovative Strategy

    NARCIS (Netherlands)

    Garschagen, A.; Steegers, M.A.H.; Bergen, A.H. van; Jochijms, J.A.; Skrabanja, T.L.M.; Vrijhoef, H.J.; Smeets, R.J.E.M.; Vissers, K.C.P.

    2015-01-01

    OBJECTIVE: Chronic noncancer pain influences patient's quality of life and their ability to cope. Pain relieving medication and other specific treatments commonly integrated in biopsychosocial rehabilitation demonstrate modest benefits in pain relief and improved functioning of individuals. Spiritua

  13. Effect of yoga regimen on lung functions including diffusion capacity in coronary artery disease patients: A randomized controlled study

    Directory of Open Access Journals (Sweden)

    Asha Yadav

    2015-01-01

    Conclusions: Yoga regimen was found to improve lung functions and diffusion capacity in CAD patients besides improving cardiovascular functions. Thus, it can be used as a complimentary or adjunct therapy along with the conventional medicine for their treatment and rehabilitation.

  14. Outcome of different post-orchiectomy management for stage I seminoma: Japanese multi-institutional study including 425 patients

    Science.gov (United States)

    Kamba, Tomomi; Kamoto, Toshiyuki; Okubo, Kazutoshi; Teramukai, Satoshi; Kakehi, Yoshiyuki; Matsuda, Tadashi; Ogawa, Osamu

    2010-01-01

    Objectives: To clarify the contemporary clinical outcome of stage I seminoma and to provide information on treatment options to patients. Methods: A retrospective analysis of 425 patients who underwent orchiectomy for stage I seminoma between 1985 and 2006 at 25 hospitals in Japan. Relapse-free survival rates were calculated using the Kaplan–Meier method and clinicopathological factors associated with relapse were examined by univariate and multivariate analyses using the Cox proportional hazards model. Results: A total of 30 out of 425 patients had relapsed. Relapse-free survival rates at 10 years were 79, 94 and 94% in the surveillance, chemotherapy and radiotherapy groups, respectively. Post-orchiectomy management and rete testis invasion were identified as independent predictive factors associated with relapse. Rete testis invasion remained to be an independent predictive factor, even if the cases with relapses in the contralateral testis were censored. Only one patient, who relapsed after adjuvant radiotherapy, died of the disease. Overall survival at 10 years was 100, 100 and 99% in the surveillance, chemotherapy and radiotherapy groups, respectively. More than half of the patients were lost to follow up within 5 years. Conclusions: The outcome of Japanese patients with stage I seminoma is similar to previously published Western reports. Surveillance policy is becoming a popular option in Japan, although the relapse rate in patients opting for surveillance policy is higher than those opting for adjuvant chemotherapy or radiotherapy. Rete testis invasion is an independent predictive factor associated with relapse regardless of the post-orchiectomy management. Long-term follow up is mandatory for detection of late relapse. PMID:20955354

  15. Outcomes of cardiopulmonary resuscitation and predictors of survival in patients undergoing coronary angiography including percutaneous coronary interventions.

    Science.gov (United States)

    Sprung, Juraj; Ritter, Matthew J; Rihal, Charanjit S; Warner, Mary E; Wilson, Gregory A; Williams, Brent A; Stevens, Susanna R; Schroeder, Darrell R; Bourke, Denis L; Warner, David O

    2006-01-01

    We studied the outcome of cardiopulmonary resuscitation (CPR) in patients undergoing coronary angiography (CA) and/or percutaneous coronary interventions (PCI). Of 51,985 CA and PCI patients treated between January 1, 1990, and December 31, 2000, 114 required CPR. Records were reviewed for relationships between patient characteristics and various procedures and short-term survival. Long-term survival was compared with that of a matched cohort of patients who did not have an arrest during catheterization and a matched cohort from the general Minnesota population. Over the 11-year period, the overall incidence of CPR was 21.9 per 10,000 procedures. This rate decreased from 33.9 per 10,000 before 1995 to 13.1 per 10,000 after 1995. Overall survival to hospital discharge after CPR was 56.1%. Survival to discharge was less frequent with a history of congestive heart failure, previous coronary artery bypass graft surgery, hemodynamic instability during the procedure, and with prolonged or emergent catheterizations. Pulseless electrical activity (versus asystole or ventricular fibrillation) indicated very poor short-term survival. Interestingly, short-term survival was not related to the extent of coronary artery disease. Long-term survival of patients who survived cardiac arrest was comparable to that of those who did not have arrest during catheterization. In conclusion, the incidence of periprocedural CPR during diagnostic or interventional coronary procedures decreased after 1995. Patients who received CPR in the cardiac catheterization lab have a remarkably frequent survival to hospital discharge rate. Long-term survival of these patients is only minimally reduced.

  16. Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome).

    Science.gov (United States)

    Orrell, R W; Amrolia, P J; Heald, A; Cleland, P G; Owen, J S; Morgan-Hughes, J A; Harding, A E; Marsden, C D

    1995-03-01

    We describe an example of a variant of Hallervorden-Spatz disease, characterized by hypoprebeta-lipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome), in an 18-year-old woman who presented with longstanding intellectual subnormality, night blindness, and a 2-year history of orobuccolingual dystonia causing dysarthria and dysphagia. Investigation showed acanthocytosis and hypoprebetalipoproteinemia, and electroretinograms were typical of tapetoretinal degeneration. T2-weighted MRI showed decreased signal intensity in the pallidal nuclei with central hyperintensity, constituting the "eye-of-the-tiger" sign. The patient's sister and mother have a similar lipid disorder but no retinal or neurologic disease. We also report two patients with clinical and radiologic features similar to those of the patient with HARP syndrome but who had normal lipid studies. These various combinations of components of HARP syndrome may be caused by several distinct genetic diseases or may represent variable manifestations of a contiguous gene defect.

  17. Quality assessment of delineation and dose planning of early breast cancer patients included in the randomized Skagen Trial 1

    DEFF Research Database (Denmark)

    Francolini, Giulio; Thomsen, Mette S; Yates, Esben S

    2017-01-01

    Background and purpose: To report on a Quality assessment (QA) of Skagen Trial 1, exploring hypofractionation for breast cancer patients with indication for regional nodal radiotherapy. Material and methods: Deviations from protocol regarding target volume delineations and dose parameters (Dmin, ...... coverage in most patients. Inter-observer variability in contouring was low. Dose parameters were in harmony with protocol regardless original or GS segmentation.......Background and purpose: To report on a Quality assessment (QA) of Skagen Trial 1, exploring hypofractionation for breast cancer patients with indication for regional nodal radiotherapy. Material and methods: Deviations from protocol regarding target volume delineations and dose parameters (Dmin......, Dmax, D98%, D95% and D2%) from randomly selected dose plans were assessed. Target volume delineation according to ESTRO guidelines was obtained through atlas based automated segmentation and centrally approved as gold standard (GS). Dice similarity scores (DSC) with original delineations were measured...

  18. Recommendations for the Use of Ultrasound and Magnetic Resonance in Patients With Spondyloarthritis, Including Psoriatic Arthritis, and Patients With Juvenile Idiopathic Arthritis.

    Science.gov (United States)

    Uson, Jacqueline; Loza, Estibaliz; Möller, Ingrid; Acebes, Carlos; Andreu, Jose Luis; Batlle, Enrique; Bueno, Ángel; Collado, Paz; Fernández-Gallardo, Juan Manuel; González, Carlos; Jiménez Palop, Mercedes; Lisbona, María Pilar; Macarrón, Pilar; Maymó, Joan; Narváez, Jose Antonio; Navarro-Compán, Victoria; Sanz, Jesús; Rosario, M Piedad; Vicente, Esther; Naredo, Esperanza

    2016-10-27

    To develop evidence-based recommendations on the use of ultrasound (US) and magnetic resonance imaging in patients with spondyloarthritis, including psoriatic arthritis, and juvenile idiopathic arthritis. Recommendations were generated following a nominal group technique. A panel of experts (15 rheumatologists and 3 radiologists) was established in the first panel meeting to define the scope and purpose of the consensus document, as well as chapters, potential recommendations and systematic literature reviews (we used and updated those from previous EULAR documents). A first draft of recommendations and text was generated. Then, an electronic Delphi process (2 rounds) was carried out. Recommendations were voted from 1 (total disagreement) to 10 (total agreement). We defined agreement if at least 70% of participants voted≥7. The level of evidence and grade or recommendation was assessed using the Oxford Centre for Evidence Based Medicine levels of evidence. The full text was circulated and reviewed by the panel. The consensus was coordinated by an expert methodologist. A total of 12 recommendations were proposed for each disease. They include, along with explanations of the validity of US and magnetic resonance imaging regarding inflammation and damage detection, diagnosis, prediction (structural damage progression, flare, treatment response, etc.), monitoring and the use of US guided injections/biopsies. These recommendations will help clinicians use US and magnetic resonance imaging in patients with spondyloarthritis and juvenile idiopathic arthritis. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  19. Status of glucose metabolism including insulin resistance and beta cell function in overtly iron loaded Thalassemia patients

    Directory of Open Access Journals (Sweden)

    A Pan

    2015-06-01

    Full Text Available BACKGROUND Abnormality of glucose metabolism is a frequent complication in Thalassemia patients. Both insulin deficiency and insulin resistance has been proposed in its pathogenesis. Some form of abnormality in glucose metabolism is expected at an earlier age in these patients in developing countries like India and Nepal where iron overload is excessive due to lack of chelation therapy. MATERIALS AND METHODS Fasting serum glucose and fasting serum insulin (FSI were measured in 40 beta-thalassemia major patients, 40 Ebeta- thalassemia patients and 40 controls, all aged between 5 and 12 years. 2 hours after an appropriate dose of oral glucose feed (Children ingested 1.75 g/kg body weight maximum 75 gram dissolved in 250 to 300 ml water blood samples were drawn again to measure post prandial serum glucose. Iron overload was assessed by measuring liver size, spleen size, total amount of packed cells transfused and serum ferritin. Insulin resistance (IR, insulin sensitivity (%S and beta cell functions (%B were derived from the measured laboratory parameters using the latest version of Homeostatic Model Assessment (HOMA calculator software. RESULTS No one had impaired glucose metabolism or diabetes mellitus beta-thalassemia major patients showed evidence of insulin resistance in the form of significantly higher fasting serum insulin (p value 0.002, IR (p value 0.003, %B (p value 0.017 and significantly lower %S (0.002 when compared with controls. FSI showed positive correlation with total amount of packed cells received (r=0.372, p=0.018, serum ferritin (r=0.345, p=0.029 and spleen size (r=0.427, p=0.006. Similarly, IR also showed positive correlation with total amount of packed cells received (r=0.388, p=0.013, serum ferritin (r=0.336, p=0.034 and spleen size (r=0.425, p=0.005. %S showed negative correlation with all these parameters. %B didn’t show any statistically significant correlation with these parameters.Ebeta- thalassemia patients didn

  20. Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.

    Science.gov (United States)

    Hruskova, Lucie; Fijalkowski, Igor; Van Hul, Wim; Marik, Ivo; Mortier, Geert; Martasek, Pavel; Mazura, Ivan

    2016-09-01

    Osteogenesis imperfecta (OI), also called brittle bone disease, is a clinically and genetically heterogeneous disorder characterized by decreased bone density. Autosomal dominant forms result from mutations in either the COL1A1 (collagen type I alpha-1 chain) or COL1A2 (collagen type I alpha-2 chain) genes encoding the type I collagen. The aim of this study was to identify mutations and allelic variants of the COL1A1 gene in patients with osteogenesis imperfecta (OI). Molecular genetic analysis of the COL1A1 gene was performed in a cohort of 34 patients with OI. The DNA samples were analysed by PCR and Sanger sequencing. DNA changes in coding sequences of the gene were compared with Type 1 Collagen Mutation Database. Genetic variants resulting in either quantitatively or structurally defective protein production were found in 6 unrelated patients. Four identified mutations are connected to decreased protein production (Tyr47X, Arg131X, Arg415X, Gln1341X), 2 result in amino acid substitution (Cys61Phe, Pro1186Ala) and the last affects splicing (c.1057-1G>T). Further, one silent mutation (Gly794Gly) was detected. No protein analysis was performed. Of the 8 identified mutations, 5 were novel and have not been reported before. Only one causes substitution of glycine located within the Gly-X-Y triplets in the triple helical domain. Two mutations are located in major ligand binding regions (MLBR) which are important for bone strength and flexibility. Although the genotype-phenotype correlation is still unclear, our findings should contribute to elucidating this relationship in patients diagnosed with OI.

  1. Thyroid profiles in a patient with resistance to thyroid hormone and episodes of thyrotoxicosis, including repeated painless thyroiditis.

    Science.gov (United States)

    Taniyama, Matsuo; Otsuka, Fumiko; Tozaki, Teruaki; Ban, Yoshiyuki

    2013-07-01

    Thyrotoxic disease can be difficult to recognize in patients with resistance to thyroid hormone (RTH) because the clinical symptoms of thyrotoxicosis cannot be observed, and thyrotropin (TSH) may not be suppressed because of hormone resistance. Painless thyroiditis is a relatively common cause of thyrotoxicosis, but its occurrence in RTH has not been reported. We assessed the thyroid profile in a patient with RTH and episodes of thyrotoxicosis who experienced repeated painless thyroiditis. A 44-year-old Japanese woman with RTH, which was confirmed by the presence of a P453A mutation in the thyroid hormone receptor β (TRβ) gene, showed a slight elevation of the basal levels of thyroid hormones, which indicated that her pituitary RTH was mild. She experienced a slight exacerbation of hyperthyroxinemia concomitant with TSH suppression. A diagnosis of painless thyroiditis was made because of the absence of TSH receptor antibodies, low Tc-99m pertechnetate uptake by the thyroid gland, and transient suppression followed by a slight elevation of TSH following the elevation of thyroid hormones. The patient's complaints of general malaise and occasional palpitations did not change throughout the course of painless thyroiditis. Three years later, painless thyroiditis occurred again without any deterioration of the clinical manifestations. Mild pituitary RTH can be overcome by slight exacerbation of hyperthyroxinemia during mild thyrotoxicosis. When pituitary resistance is severe and TSH is not suppressed, thyrotoxicosis may be overlooked.

  2. Psychiatric comorbidity in patients with chronic daily headache and migraine: a selective overview including personality traits and suicide risk.

    Science.gov (United States)

    Pompili, Maurizio; Di Cosimo, Daniela; Innamorati, Marco; Lester, David; Tatarelli, Roberto; Martelletti, Paolo

    2009-08-01

    Studies on the prevalence and impact of psychiatric disorders among headache patients have yielded findings that have clarified the relationship between migraine and major affective disorders, anxiety, illicit drug abuse, nicotine dependence, and suicide attempts. Studies in both clinical and community-based settings have demonstrated an association between migraine and a number of specific psychiatric disorders. In large-scale population-based studies, persons with migraine are from 2.2 to 4.0 times more likely to have depression. In longitudinal studies, the evidence supports a bidirectional relationship between migraine and depression, with each disorder increasing the risk of the other disorder. Although a strong association has been demonstrated consistently for migraine and major depression, especially for migraine with aura, there has been less systematic research on the links between migraine and bipolar disorder. This review will focus on the way in which psychiatric disorders decrease the quality of life and result in a worse prognosis, chronicity of the disease, and a worse response to treatment. Short-term pharmaceutical care intervention improves the patients' mental health, but it does not significantly change the number and severity of headaches. The increase in self-efficacy and mental health associated with pharmaceutical care may be instrumental in improving the long-term pharmacotherapy of patients with migraine and headache.

  3. Hutchinson-Gilford progeria syndrome as a model for vascular aging.

    Science.gov (United States)

    Brassard, Jonathan A; Fekete, Natalie; Garnier, Alain; Hoesli, Corinne A

    2016-02-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disorder caused by a de novo genetic mutation that leads to the accumulation of a splicing isoform of lamin A termed progerin. Progerin expression alters the organization of the nuclear lamina and chromatin. The life expectancy of HGPS patients is severely reduced due to critical cardiovascular defects. Progerin also accumulates in an age-dependent manner in the vascular cells of adults that do not carry genetic mutations associated with HGPS. The molecular mechanisms that lead to vascular dysfunction in HGPS may therefore also play a role in vascular aging. The vascular phenotypic and molecular changes observed in HGPS are strikingly similar to those seen with age, including increased senescence, altered mechanotransduction and stem cell exhaustion. This article discusses the similarities and differences between age-dependent and HGPS-related vascular aging to highlight the relevance of HGPS as a model for vascular aging. Induced pluripotent stem cells derived from HGPS patients are suggested as an attractive model to study vascular aging in order to develop novel approaches to treat cardiovascular disease.

  4. Do we need to establish guidelines for patients with neuromodulation implantable devices, including spinal cord stimulators undergoing nonspinal surgeries?

    Directory of Open Access Journals (Sweden)

    Ramsis F Ghaly

    2016-01-01

    Full Text Available Background: Spinal cord stimulation is currently approved to treat chronic intractable pain of the trunk and limbs. However, such implantable electronic devices are vulnerable to external electrical currents and magnetic fields. Within the hospitals and modern operating rooms (ORs, there is an abundance of electrical devices and other types of equipment that could interfere with such devices. Despite the increasing number of patients with neuromodulation implantable devices, there are no written guidelines available or consensus of cautions for such patients undergoing unrelated surgery. Case Descriptions: A 60-year-old female with a permanent St. Jude′s spinal cord stimulator (SCS presented for open total abdominal hysterectomy. Both the anesthesia and gynecology staffs were aware of the device presence, but were unaware of any precautions regarding intraoperative management. The device was found to be nonmagnetic resonance imaging compatible, and bipolar cautery was used instead of monopolar cautery. A 59-year-old female with a 9-year-old permanent Medtronic SCS, presented for right total hip arthroplasty. The device was switched off prior to entering the OR, bipolar cautery was used, and grounding pads were placed away from her battery site. In each case, the manufacturer′s representative was contacted preoperative. Both surgeries proceeded uneventfully. Conclusions: The Food and Drug Administration safety information manual warns about the use of diathermy, concomitant implanted stimulation devices, lithotripsy, external defibrillation, radiation therapy, ultrasonic scanning, and high-output ultrasound, all of which can lead to permanent implant damage if not turned off prior to undertaking procedures. Lack of uniform guidelines makes intraoperative management, as well as remote anesthesia care of patients with previously implanted SCSs unsafe.

  5. Impact of a multifaceted educational intervention including serious games to improve the management of invasive candidiasis in critically ill patients.

    Science.gov (United States)

    Ferrer, R; Zaragoza, R; Llinares, P; Maseda, E; Rodríguez, A; Quindós, G

    Infections caused by Candida species are common in critically ill patients and contribute to significant morbidity and mortality. The EPICO Project (Epico 1 and Epico 2.0 studies) recently used a Delphi approach to elaborate guidelines for the diagnosis and treatment of this condition in critically ill adult patients. We aimed to evaluate the impact of a multifaceted educational intervention based on the Epico 1 and Epico 2.0 recommendations. Specialists anonymously responded to two online surveys before and after a multifaceted educational intervention consisting of 60-min educational sessions, the distribution of slide kits and pocket guides with the recommendations, and an interactive virtual case presented at a teleconference and available for online consultation. A total of 74 Spanish hospitals. Specialists of the Intensive Care Units in the participating hospitals. Specialist knowledge and reported practices evaluated using a survey. The McNemar test was used to compare the responses in the pre- and post-intervention surveys. A total of 255 and 248 specialists completed both surveys, in both periods, respectively. The pre-intervention surveys showed many specialists to be unaware of the best approach for managing invasive candidiasis. After both educational interventions, specialist knowledge and reported practices were found to be more in line with nearly all the recommendations of the Epico 1 and Epico 2.0 guidelines, except as regards de-escalation from echinocandins to fluconazole in Candida glabrata infections (p=0.055), and the duration of antifungal treatment in both candidemia and peritoneal candidiasis. This multifaceted educational intervention based on the Epico Project recommendations improved specialist knowledge of the management of invasive candidiasis in critically ill patients. Copyright © 2016 Elsevier España, S.L.U. y SEMICYUC. All rights reserved.

  6. Molecular basis of antithrombin deficiency in four Japanese patients with antithrombin gene abnormalities including two novel mutations.

    Science.gov (United States)

    Kyotani, Mayu; Okumura, Kaoru; Takagi, Akira; Murate, Takashi; Yamamoto, Koji; Matsushita, Tadashi; Sugimura, Motoi; Kanayama, Naohiro; Kobayashi, Takao; Saito, Hidehiko; Kojima, Tetsuhito

    2007-08-01

    We analyzed the antithrombin (AT) gene in four unrelated Japanese patients with an AT deficiency, and individually identified four distinct mutations in the heterozygous state. There were two novel mutations, 2417delT leading to a frameshift with a premature termination at amino acid -3 (FS-3Stop) and C2640T resulting in a missense mutation (Ala59Val). Previously reported mutations, T5342C (Ser116Pro) and T72C (Met-32Thr), were also found in the other two patients. To understand the molecular basis responsible for the AT deficiency in these patients, in vitro expression experiments were performed using HEK293 cells transfected with either wild type or respective mutant AT expression vector. We found that -3Stop-AT and -32Thr-AT were not secreted into the culture media, whereas 116Pro-AT and 59Val-AT were secreted normally. We further studied the heparin cofactor activity and the binding to heparin of each recombinant AT molecule. Ser116Pro mutation significantly impaired the binding affinity to heparin resulting in a reduced heparin cofactor activity. In contrast, we found that Ala59Val mutant AT unexpectedly showed a normal affinity to heparin, but severely impaired the heparin cofactor activity. Our findings suggested that FS-3Stop and Met-32Thr mutations are responsible for type I AT deficiency, whereas Ser116Pro and Ala59Val mutations contribute to type II AT deficiency, confirming that there were diverse molecular mechanisms of AT deficiency depend upon discrete AT gene abnormalities as reported previously.

  7. High-quality conforming hexahedral meshes of patient-specific abdominal aortic aneurysms including their intraluminal thrombi.

    Science.gov (United States)

    Tarjuelo-Gutierrez, J; Rodriguez-Vila, B; Pierce, D M; Fastl, T E; Verbrugghe, P; Fourneau, I; Maleux, G; Herijgers, P; Holzapfel, G A; Gomez, E J

    2014-02-01

    In order to perform finite element (FE) analyses of patient-specific abdominal aortic aneurysms, geometries derived from medical images must be meshed with suitable elements. We propose a semi-automatic method for generating conforming hexahedral meshes directly from contours segmented from medical images. Magnetic resonance images are generated using a protocol developed to give the abdominal aorta high contrast against the surrounding soft tissue. These data allow us to distinguish between the different structures of interest. We build novel quadrilateral meshes for each surface of the sectioned geometry and generate conforming hexahedral meshes by combining the quadrilateral meshes. The three-layered morphology of both the arterial wall and thrombus is incorporated using parameters determined from experiments. We demonstrate the quality of our patient-specific meshes using the element Scaled Jacobian. The method efficiently generates high-quality elements suitable for FE analysis, even in the bifurcation region of the aorta into the iliac arteries. For example, hexahedral meshes of up to 125,000 elements are generated in less than 130 s, with 94.8 % of elements well suited for FE analysis. We provide novel input for simulations by independently meshing both the arterial wall and intraluminal thrombus of the aneurysm, and their respective layered morphologies.

  8. Variant mannose-binding lectin alleles are not associated with susceptibility to or outcome of invasive pneumococcal infection in randomly included patients

    DEFF Research Database (Denmark)

    Kronborg, Gitte; Madsen, Hans O; Pedersen, Svend S;

    2002-01-01

    for pneumococcal infections. To assess the influence of MBL genotypes on the course and outcome of invasive pneumococcal disease, clinical data for 141 adult patients were collected prospectively and their genotypes were determined. All patients included had positive blood cultures for Streptococcus pneumoniae...

  9. Treatment approach, delivery, and follow-up evaluation for cardiac rhythm disease management patients receiving radiation therapy: retrospective physician surveys including chart reviews at numerous centers.

    Science.gov (United States)

    Gossman, Michael S; Wilkinson, Jeffrey D; Mallick, Avishek

    2014-01-01

    In a 2-part study, we first examined the results of 71 surveyed physicians who provided responses on how they address the management of patients who maintained either a pacemaker or a defibrillator during radiation treatment. Second, a case review study is presented involving 112 medical records reviewed at 18 institutions to determine whether there was a change in the radiation prescription for the treatment of the target cancer, the method of radiation delivery, or the method of radiation image acquisition. Statistics are provided to illustrate the level of administrative policy; the level of communication between radiation oncologists and heart specialists; American Joint Committee on Cancer (AJCC) staging and classification; National Comprehensive Cancer Network (NCCN) guidelines; tumor site; patient׳s sex; patient׳s age; device type; manufacturer; live monitoring; and the reported decisions for planning, delivery, and imaging. This survey revealed that 37% of patient treatments were considered for some sort of change in this regard, whereas 59% of patients were treated without regard to these alternatives when available. Only 3% of all patients were identified with an observable change in the functionality of the device or patient status in comparison with 96% of patients with normal behavior and operating devices. Documented changes in the patient׳s medical record included 1 device exhibiting failure at 0.3-Gy dose, 1 device exhibiting increased sensor rate during dose delivery, 1 patient having an irregular heartbeat leading to device reprogramming, and 1 patient complained of twinging in the chest wall that resulted in a respiratory arrest. Although policies and procedures should directly involve the qualified medical physicist for technical supervision, their sufficient involvement was typically not requested by most respondents. No treatment options were denied to any patient based on AJCC staging, classification, or NCCN practice standards.

  10. Including limitations in news coverage of cancer research: effects of news hedging on fatalism, medical skepticism, patient trust, and backlash.

    Science.gov (United States)

    Jensen, Jakob D; Carcioppolo, Nick; King, Andy J; Bernat, Jennifer K; Davis, LaShara; Yale, Robert; Smith, Jessica

    2011-05-01

    Past research has demonstrated that news coverage of cancer research, and scientific research generally, rarely contains discourse-based hedging, including caveats, limitations, and uncertainties. In a multiple message experiment (k = 4 news stories, N = 1082), the authors examined whether hedging shaped the perceptions of news consumers. The results revealed that participants were significantly less fatalistic about cancer (p = .039) and marginally less prone to nutritional backlash (p = .056) after exposure to hedged articles. Participants exposed to articles mentioning a second researcher (unaffiliated with the present study) exhibited greater trust in medical professions (p = .001). The findings provide additional support for the inclusion of discourse-based hedging in cancer news coverage and suggest that news consumers will use scientific uncertainty in illness representations.

  11. Intensive lifestyle intervention including high-intensity interval training program improves insulin resistance and fasting plasma glucose in obese patients.

    Science.gov (United States)

    Marquis-Gravel, Guillaume; Hayami, Douglas; Juneau, Martin; Nigam, Anil; Guilbeault, Valérie; Latour, Élise; Gayda, Mathieu

    2015-01-01

    To analyze the effects of a long-term intensive lifestyle intervention including high-intensity interval training (HIIT) and Mediterranean diet (MedD) counseling on glycemic control parameters, insulin resistance and β-cell function in obese subjects. The glycemic control parameters (fasting plasma glucose, glycated hemoglobin), insulin resistance, and β-cell function of 72 obese subjects (54 women; mean age = 53 ± 9 years) were assessed at baseline and upon completion of a 9-month intensive lifestyle intervention program conducted at the cardiovascular prevention and rehabilitation center of the Montreal Heart Institute, from 2009 to 2012. The program included 2-3 weekly supervised exercise training sessions (HIIT and resistance exercise), combined to MedD counseling. Fasting plasma glucose (FPG) (mmol/L) (before: 5.5 ± 0.9; after: 5.2 ± 0.6; P fasting insulin (pmol/L) (before: 98 ± 57; after: 82 ± 43; P = 0.003), and insulin resistance, as assessed by the HOMA-IR score (before: 3.6 ± 2.5; after: 2.8 ± 1.6; P = 0.0008) significantly improved, but not HbA1c (%) (before: 5.72 ± 0.55; after: 5.69 ± 0.39; P = 0.448), nor β-cell function (HOMA-β, %) (before: 149 ± 78; after: 144 ± 75; P = 0.58). Following a 9-month intensive lifestyle intervention combining HIIT and MedD counseling, obese subjects experienced significant improvements of FPG and insulin resistance. This is the first study to expose the effects of a long-term program combining HIIT and MedD on glycemic control parameters among obese subjects.

  12. A patient with refractory shock induced by several factors, including obstruction because of a posterior mediastinal hematoma.

    Science.gov (United States)

    Obinata, Mariko; Ishikawa, Kouhei; Osaka, Hiromichi; Mishima, Kentaro; Omori, Kazuhiko; Oode, Yasumasa; Yanagawa, Youichi

    2015-06-01

    A 44-year-old man who drove a motorcycle experienced a collision with the side of another motorcycle. Because he had sustained a high-energy injury to the spinal cord, he was transferred to our hospital. His circulation was unstable, and received tracheal intubation in addition to thoracostomy for the hemothorax. Whole-body computed tomography (CT) revealed multiple fractures, right hemopneumothorax with pulmonary contusion, and minor liver injury. After infusing 5000 mL of lactated Ringer's solution and 10 units of blood, his circulation remained unstable. On a repeat CT examination, the left atrium was found to be compressed by a posterior mediastinal hematoma induced by the fracture of the thoracic spine, and a diagnosis of shock induced by multiple factors, including hemorrhagic, neurogenic, and obstructive mechanisms, was made. After obtaining stable circulation and respirations, internal fixation of the extremities and extubation were performed on the 12th hospital day. Chest CT performed on the 27th day showed the disappearance of compression of the left atrium by the hematoma.

  13. A Clinical Evaluation of Postamputation Phenomena Including Phantom Limb Pain after Lower Limb Amputation in Dysvascular Patients.

    Science.gov (United States)

    Richardson, Cliff; Crawford, Kath; Milnes, Karen; Bouch, Elizabeth; Kulkarni, Jai

    2015-08-01

    To explore the effects of phantom phenomena on a group of dysvascular lower limb amputees. This was a cross-sectional study of dysvascular lower limb amputees. A modified version of the phantom phenomena questionnaire was used to measure the prevalence of phantom phenomena and the effects of those phenomena on daily life. Eighty-nine amputees were recruited. The majority were inpatients (72%) and male (72%). Most had pain before amputation (83%). Sixty-three percent had phantom limb pain. No associations were found between phantom limb pain and preamputation pain (p = .397). Phantom limb pain was present immediately on waking from amputation in 23%. Phantom limb pain is highly fluctuant. It is more likely that phantom limb pain was present with more time passed since amputation (p = .002). Outpatients with unhealed wounds were less likely to have phantom limb pain (p = .007). The effects of postamputation phenomena include sleep loss and social restrictions. These results challenge the belief that phantom limb pain reduces over time as more outpatients reported phantom limb pain than inpatients. Preamputation pain is not linked to the presence of phantom limb pain. The fluctuant nature of phantom limb pain makes its treatment complex. Some may wish intensity to reduce, whereas others may prefer to reduce the number of episodes or duration of each episode instead. More research is needed to clarify the needs of amputees in relation to the postamputation phenomena.

  14. Outcome of Triple Antiplatelet Therapy Including Cilostazol in Elderly Patients with ST-Elevation Myocardial Infarction who Underwent Primary Percutaneous Coronary Intervention: Results from the INTERSTELLAR Registry.

    Science.gov (United States)

    Jang, Ho-Jun; Park, Sang-Don; Park, Hyun Woo; Suh, Jon; Oh, Pyung Chun; Moon, Jeonggeun; Lee, Kyounghoon; Kang, Woong Chol; Kwon, Sung Woo; Kim, Tae-Hoon

    2017-06-01

    Compared with dual antiplatelet therapy including aspirin and clopidogrel, triple antiplatelet therapy including cilostazol has a mortality benefit in patients with ST-segment elevation myocardial infarction. However, whether the mortality benefit persists in elderly patients is not clear. From 2007 to 2014, 1278 patients with ST-segment elevation myocardial infarction who underwent primary percutaneous coronary intervention were retrospectively analyzed. The patients were divided into four groups by age (antiplatelet strategy (triple or dual antiplatelet therapy). We compared the mortality rates between the triple and dual antiplatelet therapy groups. There were 1052 (male, 85%; mean age, 56.3 ± 10.4 years) patients in the young group and 241 (male, 52.7%; mean age, 80.3 ± 4.5 years) patients in the elderly group. In the young and elderly groups, 220 (20.9%) and 28 (12.3%) patients were treated with triple antiplatelet therapy. During a 1-year follow-up period, 80 patients died (4.2% in the young group vs. 15.5% in the elderly group). Kaplan-Meier survival analysis revealed that triple antiplatelet therapy was associated with a lower mortality rate in the young group (log-rank, p = 0.005). Although there were more angiographic high-risk patients in the elderly group, similar mortality rates were reported (log-rank, p = 0.803) without increased bleeding rates (1 vs. 3.6% in the elderly group, p = 0.217). Triple antiplatelet therapy might be a better antiplatelet regimen than dual antiplatelet therapy for patients with ST-segment elevation myocardial infarction. Although this benefit was strong in patients aged <75 years, no definite increase in major bleeding was seen for elderly patients (aged ≥75 years).

  15. Nutritional status and feeding-tube placement in patients with locally advanced hypopharyngeal cancer included in an induction chemotherapy-based larynx preservation program.

    Science.gov (United States)

    Bozec, Alexandre; Benezery, Karen; Chamorey, Emmanuel; Ettaiche, Marc; Vandersteen, Clair; Dassonville, Olivier; Poissonnet, Gilles; Riss, Jean-Christophe; Hannoun-Lévi, Jean-Michel; Chand, Marie-Eve; Leysalle, Axel; Saada, Esma; Sudaka, Anne; Haudebourg, Juliette; Hebert, Christophe; Falewee, Marie-Noelle; Demard, François; Santini, José; Peyrade, Frédéric

    2016-09-01

    The objective of the study is to evaluate the nutritional status and determine its impact on clinical outcomes in patients with locally advanced hypopharyngeal cancer included in an induction chemotherapy (ICT)-based larynx preservation program without prophylactic feeding-tube placement. All patients with locally advanced (T3/4, N0-3, M0) hypopharyngeal squamous cell carcinoma, technically suitable for total pharyngolaryngectomy, treated by docetaxel, cisplatin and 5-fluorouracil (TPF)-ICT for larynx preservation at our institution between 2004 and 2013, were included in this retrospective study. Patients' nutritional status was closely monitored. Enteral nutrition was used if and when a patient was unable to sustain per-oral nutrition and hydration. The impact of nutritional status on clinical outcomes was investigated in univariate and multivariate analysis. A total of 53 patients (42 men and 11 women, mean age = 58.6 ± 8.2 years) were included in this study. Six (11.3 %) patients had lost more than 10 % of their usual body weight before therapy. Compared with patients' usual weight, the mean maximum patient weight loss during therapeutic management was 8.7 ± 4.5 kg. Enteral nutrition was required in 17 patients (32 %). We found no influence of the tested nutritional status-related factors on response to ICT, toxicity of ICT, overall, cause-specific and recurrence-free survival, and on post-therapeutic swallowing outcome. Maximum weight loss was significantly associated with a higher risk of enteral tube feeding during therapy (p = 0.03) and of complications (grade ≥3, p = 0.006) during RT. Without prophylactic feeding-tube placement, approximately one-third of the patients required enteral nutrition. There was no significant impact of nutritional status on oncologic or functional outcomes.

  16. Adverse effects of isolation: a prospective matched cohort study including 90 direct interviews of hospitalized patients in a French University Hospital.

    Science.gov (United States)

    Guilley-Lerondeau, B; Bourigault, C; Guille des Buttes, A-C; Birgand, G; Lepelletier, D

    2017-01-01

    Isolation precautions in patients with multi-drug resistant bacteria or other communicable infectious agents can be associated with adverse effects. The aim of this study was to assess satisfaction and psychological impact of patients hospitalized with isolation precautions in comparison with controls. An observational prospective cohort study was performed in five different medical and surgical departments in a 3,000-bed university hospital in Western France between March and July 2012. Different scales were used to assess patient satisfaction (qualitative scale) and anxiety (Spielberger scale), including 30 patients with isolation precautions and 60 matched patients without isolation precautions over 45-hour interviews. Cases were significantly less satisfied than controls for healthcare workers (HCW) assistance in activities of daily life (p patients with isolation precautions were not satisfied about the quality of the information related to their infectious status control measures. The median score [range] of anxiety significantly was higher in patients with isolation precautions (52 [20-56] vs 31 [23-73], p patient satisfaction according to the availability and relationship with HCW. Professionals should be aware of adverse effects of isolation and inform patients more actively with regard to their infectious status and precautions.

  17. Long-term pain relief with optimized medical treatment including antioxidants and step-up interventional therapy in patients with chronic pancreatitis.

    Science.gov (United States)

    Shalimar; Midha, Shallu; Hasan, Ajmal; Dhingra, Rajan; Garg, Pramod Kumar

    2017-01-01

    Abdominal pain is difficult to treat in patients with chronic pancreatitis (CP). Medical therapy including antioxidants has been shown to relieve pain of CP in the short-term. Our aim was to study the long-term results of optimized medical and interventional therapy for pain relief in patients with CP with a step-up approach. All consecutive patients with CP were included prospectively in the study. They were treated medically with a well-balanced diet, pancreatic enzymes, and antioxidants (9000 IU beta-carotene, 0.54 g vitamin C, 270 IU vitamin E, 600 µg organic selenium, and 2 g methionine). Endoscopic therapy and/or surgery were offered if medical therapy failed. Pain relief was the primary outcome measure. A total of 313 patients (mean age 26.16 ± 12.17; 244 males) with CP were included; 288 (92%) patients had abdominal pain. The etiology of CP was idiopathic in 224 (71.6%) and alcohol in 82 (26.2%). At 1-year follow-up, significant pain relief was achieved in 84.7% of patients: 52.1% with medical therapy, 16.7% with endoscopic therapy, 7.6% with surgery, and 8.3% spontaneously. The mean pain score decreased from 6.36 ± 1.92 to 1.62 ± 2.10 (P < 0.001). Of the 288 patients, 261, 218, 112, and 51 patients were followed up for 3, 5, 10, and 15 years, respectively; 54.0%, 57.3%, 60.7%, and 68.8% of them became pain free at those follow-up periods. Significant pain relief is achieved in the majority of patients with optimized medical and interventional treatment. © 2016 Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.

  18. Treatment approach, delivery, and follow-up evaluation for cardiac rhythm disease management patients receiving radiation therapy: Retrospective physician surveys including chart reviews at numerous centers

    Energy Technology Data Exchange (ETDEWEB)

    Gossman, Michael S., E-mail: MGossman@TSRCC.com [Regulation Directive Medical Physics, Russell, KY (United States); Wilkinson, Jeffrey D. [Medtronic, Inc., Mounds View, MN (United States); Mallick, Avishek [Department of Mathematics, Marshall University, Huntington, WV (United States)

    2014-01-01

    In a 2-part study, we first examined the results of 71 surveyed physicians who provided responses on how they address the management of patients who maintained either a pacemaker or a defibrillator during radiation treatment. Second, a case review study is presented involving 112 medical records reviewed at 18 institutions to determine whether there was a change in the radiation prescription for the treatment of the target cancer, the method of radiation delivery, or the method of radiation image acquisition. Statistics are provided to illustrate the level of administrative policy; the level of communication between radiation oncologists and heart specialists; American Joint Committee on Cancer (AJCC) staging and classification; National Comprehensive Cancer Network (NCCN) guidelines; tumor site; patient's sex; patient's age; device type; manufacturer; live monitoring; and the reported decisions for planning, delivery, and imaging. This survey revealed that 37% of patient treatments were considered for some sort of change in this regard, whereas 59% of patients were treated without regard to these alternatives when available. Only 3% of all patients were identified with an observable change in the functionality of the device or patient status in comparison with 96% of patients with normal behavior and operating devices. Documented changes in the patient's medical record included 1 device exhibiting failure at 0.3-Gy dose, 1 device exhibiting increased sensor rate during dose delivery, 1 patient having an irregular heartbeat leading to device reprogramming, and 1 patient complained of twinging in the chest wall that resulted in a respiratory arrest. Although policies and procedures should directly involve the qualified medical physicist for technical supervision, their sufficient involvement was typically not requested by most respondents. No treatment options were denied to any patient based on AJCC staging, classification, or NCCN practice standards.

  19. Incidence of primary hypothyroidism in patients exposed to therapeutic external beam radiation, where radiation portals include a part or whole of the thyroid gland

    Directory of Open Access Journals (Sweden)

    B A Laway

    2012-01-01

    Full Text Available Introduction: Hypothyroidism is a known consequence of external-beam radiotherapy to the neck encompassing a part or whole of the thyroid gland. In this non-randomized prospective study, we have tried to evaluate the response of the thyroid gland to radiation by assessing thyroid function before irradiation and at regular intervals after irradiation. Aims and Objectives: The aim of this study were to assess in the cancer patients, who were exposed to the therapeutic external beam radiation, where radiation portals include a part or whole of the thyroid gland: the incidence of primary hypothyroidism, the time required to become hypothyroid, any relation between the total dose for the development of hypothyroidism, and whether there are any patient or treatment-related factors that are predictive for the development of hypothyroidism, including the use of concurrent chemotherapy. Materials and Methods: This non-randomized, prospective study was conducted for a period of 2 years in which thyroid function was assessed in 59 patients (cases of head and neck cancer, breast cancer, lymphoma patients and other malignancies, who had received radiotherapy to the neck region. 59 euthyroid healthy patients (controls were also taken, who had not received the neck irradiation. These patients/controls were assessed periodically for 2 years. Results: The incidence of hypothyroidism after external beam radiation therapy (EBRT to neck where radiation portals include part or whole of the thyroid gland was 16.94%, seven cases had subclinical hypothyroidism (11.86% and three cases had clinical hypothyroidism (5.08%. Mean time for development of hypothyroidism was 4.5 months. There was no effect of age, gender, primary tumor site, radiation dose and chemotherapy, whether neoadjuvant or concurrent with the development of hypothyroidism. Conclusion: In summary, we found that thyroid dysfunction is a prevalent, yet easily treatable source of morbidity in patients

  20. Altered functional connectivity links in neuroleptic-naïve and neuroleptic-treated patients with schizophrenia, and their relation to symptoms including volition

    Directory of Open Access Journals (Sweden)

    Weidan Pu

    2014-01-01

    Full Text Available In order to analyze functional connectivity in untreated and treated patients with schizophrenia, resting-state fMRI data were obtained for whole-brain functional connectivity analysis from 22 first-episode neuroleptic-naïve schizophrenia (NNS, 61 first-episode neuroleptic-treated schizophrenia (NTS patients, and 60 healthy controls (HC. Reductions were found in untreated and treated patients in the functional connectivity between the posterior cingulate gyrus and precuneus, and this was correlated with the reduction in volition from the Positive and Negative Symptoms Scale (PANSS, that is in the willful initiation, sustenance, and control of thoughts, behavior, movements, and speech, and with the general and negative symptoms. In addition in both patient groups interhemispheric functional connectivity was weaker between the orbitofrontal cortex, amygdala and temporal pole. These functional connectivity changes and the related symptoms were not treated by the neuroleptics. Differences between the patient groups were that there were more strong functional connectivity links in the NNS patients (including in hippocampal, frontal, and striatal circuits than in the NTS patients. These findings with a whole brain analysis in untreated and treated patients with schizophrenia provide evidence on some of the brain regions implicated in the volitional, other general, and negative symptoms, of schizophrenia that are not treated by neuroleptics so have implications for the development of other treatments; and provide evidence on some brain systems in which neuroleptics do alter the functional connectivity.

  1. Can we expand active surveillance criteria to include biopsy Gleason 3+4 prostate cancer? A multi-institutional study of 2,323 patients

    NARCIS (Netherlands)

    Ploussard, G.; Isbarn, H.; Briganti, A.; Sooriakumaran, P.; Surcel, C.I.; Salomon, L.; Freschi, M.; Mirvald, C.; Poel, H.G. van der; Jenkins, A.; Ost, P.; Oort, I.M. van; Yossepowitch, O.; Giannarini, G.; Bergh, R.C. van den

    2015-01-01

    OBJECTIVE: To test the expandability of active surveillance (AS) to Gleason score 3+4 cancers by assessing the unfavorable disease risk in a large multi-institutional cohort. MATERIALS AND METHODS: We performed a retrospective analysis including 2,323 patients with localized Gleason score 3+4 prosta

  2. Using patient reported outcome measures in health services: A qualitative study on including people with low literacy skills and learning disabilities

    Directory of Open Access Journals (Sweden)

    Jahagirdar Deepa

    2012-11-01

    Full Text Available Abstract Background Patient reported outcome measures (PROMs are self-report measures of health status increasingly promoted for use in healthcare quality improvement. However people with low literacy skills or learning disabilities may find PROMs hard to complete. Our study investigated stakeholder views on the accessibility and use of PROMs to develop suggestions for more inclusive practice. Methods Taking PROMs recommended for chronic obstructive pulmonary disease (COPD as an example, we conducted 8 interviews with people with low literacy skills and/or learning disabilities, and 4 focus groups with 20 health professionals and people with COPD. Discussions covered the format and delivery of PROMs using the EQ-5D and St George Respiratory Questionnaire as prompts. Thematic framework analysis focused on three main themes: Accessibility, Ease of Use, and Contextual factors. Results Accessibility included issues concerning the questionnaire format, and suggestions for improvement included larger font sizes and more white space. Ease of Use included discussion about PROMs’ administration. While health professionals suggested PROMs could be completed in waiting rooms, patients preferred settings with more privacy and where they could access help from people they know. Contextual Factors included other challenges and wider issues associated with completing PROMs. While health professionals highlighted difficulties created by the system in managing patients with low literacy/learning disabilities, patient participants stressed that understanding the purpose of PROMs was important to reduce intimidation. Conclusions Adjusting PROMs’ format, giving an explicit choice of where patients can complete them, and clearly conveying PROMs’ purpose and benefit to patients may help to prevent inequality when using PROMs in health services.

  3. Implications of Public Reporting of Risk-Adjusted Mortality Following Percutaneous Coronary Intervention: Misperceptions and Potential Consequences for High-Risk Patients Including Nonsurgical Patients.

    Science.gov (United States)

    Gupta, Anuj; Yeh, Robert W; Tamis-Holland, Jacqueline E; Patel, Shalin H; Guyton, Robert A; Klein, Lloyd W; Rab, Tanveer; Kirtane, Ajay J

    2016-10-24

    Assessment of clinical outcomes such as 30-day mortality following coronary revascularization procedures has historically been used to spur quality improvement programs. Public reporting of risk-adjusted outcomes is already mandated in several states, and proposals to further expand public reporting have been put forward as a means of increasing transparency and potentially incentivizing high quality care. However, for public reporting of outcomes to be considered a useful surrogate of procedural quality of care, several prerequisites must be met. First, the reporting measure must be truly representative of the quality of the procedure itself, rather than be dominated by other underlying factors, such as the overall level of illness of a patient. Second, to foster comparisons among physicians and institutions, the metric requires accurate ascertainment of and adjustment for differences in patient risk profiles. This is particularly relevant for high-risk clinical patient scenarios. Finally, the potential deleterious consequences of public reporting of a quality metric should be considered prior to expanding the use of public reporting more broadly. In this viewpoint, the authors review in particular the characterization of high-risk patients currently treated by percutaneous coronary interventional procedures, assessing the adequacy of clinical risk models used in this population. They then expand upon the limitations of 30-day mortality as a quality metric for percutaneous coronary intervention, addressing the strengths and limitations of this metric, as well as offering suggestions to enhance its future use in public reporting. Copyright © 2016 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  4. Effect of progerin on the accumulation of oxidized proteins in fibroblasts from Hutchinson Gilford progeria patients.

    Science.gov (United States)

    Viteri, Gabriela; Chung, Youn Wook; Stadtman, Earl R

    2010-01-01

    The mutation responsible for Hutchinson Gilford Progeria Syndrome (HGPS) causes abnormal nuclear morphology. Previous studies show that free radicals and reactive oxygen species play major roles in the etiology and/or progression of neurodegenerative diseases and aging. This study compares oxidative stress responses between progeric and normal fibroblasts. Our data revealed higher ROS levels in HGPS cells compared to age-matched controls. In response to oxidative challenge, progeric cells showed increased mRNA levels for mitochondrial superoxide dismutase (SOD) and SOD protein content. However, this did not prevent a drop in the ATP content of progeria fibroblasts. Previous studies have shown that declines in human fibroblast ATP levels interfere with programmed cell death and promote necrotic inflammation. Notably, in our investigations the ATP content of progeria fibroblasts was only approximately 50% of that found in healthy controls. Furthermore, HGPS fibroblast analysis revealed a decrease in total caspase-like proteasome activity and in the levels of two active proteolytic complex subunits (beta(5) and beta(7)). A number of studies indicate that the molecular mechanisms causing accelerated aging in progeric patients also occur in healthy cells of older individuals. Thus, the results of this study may also help explain some of the cellular changes that accompany normal aging.

  5. Incidence of cardioembolic stroke including paradoxical brain embolism in patients with acute ischemic stroke before and after the Great East Japan Earthquake.

    Science.gov (United States)

    Itabashi, Ryo; Furui, Eisuke; Sato, Shoichiro; Yazawa, Yukako; Kawata, Kenta; Mori, Etsuro

    2014-01-01

    The incidence of heart disease or deep vein thrombosis (DVT) reportedly increased after the Great East Japan Earthquake. We hypothesized that the incidence of cardioembolic stroke (CES) including paradoxical brain embolism (PBE) among patients with acute stroke would increase after the earthquake due to cessation of antithrombotic therapy or the increase in heart disease and DVT associated with the evacuation. The aim of this study is to evaluate the changes in the prevalence of DVT and the incidence of CES including PBE in acute ischemic stroke before and after the earthquake. We retrospectively studied 1,044 consecutive ischemic stroke patients (73.1 ± 12.5 years old, male 61.5%) who were admitted to a comprehensive stroke center (from January 2010 through March 2012) located in the earthquake disaster area within 7 days after stroke onset. The prevalence of DVT and the incidence of CES including PBE were compared before and after the earthquake of 11 March 2011. The median of the initial National Institutes of Health Stroke Scale (NIHSS) scores was 4 (interquartile range: 1-8). Two hundred and eighty-two patients (27.0% of those surveyed) were diagnosed with CES. After adjustment for sex, age, NIHSS score, and patient's residential address, the proportion of CES patients was significantly increased after the earthquake (odds ratio, OR 1.61, 95% confidence interval, 95% CI: 1.20-2.17). Eighty-nine patients (8.5% of those surveyed) had DVT. Compared with 2010 findings, the prevalence of DVT was significantly increased in the fourth quarter of 2011 and the first quarter of 2012 (OR 1.85, 95% CI: 1.05-3.24). Nineteen (1.8% of those surveyed) were diagnosed with PBE. The proportion of PBE patients was also significantly increased in the second half of 2011 (OR 3.69, 95% CI: 1.28-12.1). The incidence of CES was significantly increased after the earthquake, compared with the period before the earthquake. We encountered more PBE in the period from 3 to 9 months after

  6. A retrospective classification of diagnoses in terms of DSM-5 for patients included in randomized controlled trials of Ginkgo biloba extract EGb 761(®).

    Science.gov (United States)

    Hoerr, Robert; Zaudig, Michael

    2016-04-01

    When the early trials of Ginkgo biloba extract EGb 761(®) were conducted, different terms were used to denote ageing-associated neurocognitive disorders. With the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), a taxonomy covering dementia and pre-dementia stages of such disorders became available. DSM-5 diagnostic criteria for neurocognitive disorders (NCDs) were applied to patients with any type of ageing-associated cognitive impairment, including dementia, enrolled in randomized controlled clinical trials of EGb 761(®), taking into account the reported inclusion and exclusion criteria and patient characteristics at baseline. For 23 of 31 trials (74 %), the inclusion diagnoses could be classified as NCD in accordance with DSM-5. Thirteen trials enrolled patients with major NCD, four trials enrolled patients with mild NCD and six trials enrolled patients with NCD, who could not be classified unambiguously as having mild or major NCD. Although various terms were formerly used for neurocognitive disorders, the patients enrolled in the majority of clinical trials with EGb 761(®) could be classified retrospectively using modern DSM-5 diagnostic criteria.

  7. Ketamine Infusion Therapy as an Alternative Pain Control Strategy in Patients with Multi-Trauma including Rib Fracture; Case Report and Literature Review.

    Science.gov (United States)

    Losing, Ashley K; Jones, Justin M; Keric, Adis; Briggs, Steven E; Leedahl, David D

    2016-07-01

    Ketamine is a promising alternative agent for pain control that offers benefit to traditional strategies, particularly in the setting of rib fracture. Current pharmacologic therapies have clear adverse effects, and other options may be invasive, cost prohibitive, or marginally effective. We describe three consecutive patients with traumatic injuries including rib fracture for which a ketamine infusion was utilized as part of their pain control strategy.  For each patient, use of a ketamine infusion trended toward reduced opioid requirements with stable pain scores. One patient experienced a dissociative adverse effect prompting decrease and discontinuation of ketamine. No pulmonary complications in the form of emergent intubation or new diagnosis of pneumonia were observed. We believe the addition of ketamine infusion to be a valid alternative strategy for managing pain associated with rib fracture.

  8. Can consistent benchmarking within a standardized pain management concept decrease postoperative pain after total hip arthroplasty? A prospective cohort study including 367 patients

    Science.gov (United States)

    Benditz, Achim; Greimel, Felix; Auer, Patrick; Zeman, Florian; Göttermann, Antje; Grifka, Joachim; Meissner, Winfried; von Kunow, Frederik

    2016-01-01

    Background The number of total hip replacement surgeries has steadily increased over recent years. Reduction in postoperative pain increases patient satisfaction and enables better mobilization. Thus, pain management needs to be continuously improved. Problems are often caused not only by medical issues but also by organization and hospital structure. The present study shows how the quality of pain management can be increased by implementing a standardized pain concept and simple, consistent, benchmarking. Methods All patients included in the study had undergone total hip arthroplasty (THA). Outcome parameters were analyzed 24 hours after surgery by means of the questionnaires from the German-wide project “Quality Improvement in Postoperative Pain Management” (QUIPS). A pain nurse interviewed patients and continuously assessed outcome quality parameters. A multidisciplinary team of anesthetists, orthopedic surgeons, and nurses implemented a regular procedure of data analysis and internal benchmarking. The health care team was informed of any results, and suggested improvements. Every staff member involved in pain management participated in educational lessons, and a special pain nurse was trained in each ward. Results From 2014 to 2015, 367 patients were included. The mean maximal pain score 24 hours after surgery was 4.0 (±3.0) on an 11-point numeric rating scale, and patient satisfaction was 9.0 (±1.2). Over time, the maximum pain score decreased (mean 3.0, ±2.0), whereas patient satisfaction significantly increased (mean 9.8, ±0.4; pteamwork and flexibility in adapting processes seem to be highly important for successful pain management. PMID:28031727

  9. ASSESSMENT OF THE CHANGES IN BLOOD PRESSURE CIRCADIAN PROFILE AND VARIABILITY IN PATIENTS WITH CHRONIC HEART FAILURE AND ARTERIAL HYPERTENSION DURING COMBINED THERAPY INCLUDING IVABRADINE

    Directory of Open Access Journals (Sweden)

    M. V. Surovtseva

    2015-12-01

    Full Text Available Aim. To assess the changes in blood pressure (BP circadian profile and variability in patients with chronic heart failure (CHF of ischemic etiology and arterial hypertension (HT due to the complex therapy including ivabradine. Material and methods. Patients (n=90 with CHF class II–III NYHA associated with stable angina II-III class and HT were examined. The patients were randomized into 3 groups depending on received drugs: perindopril and ivabradine - group 1; perindopril, bisoprolol and ivabradine - group 2; perindopril and bisoprolol - group 3. The duration of therapy was 6 months. Ambulatory BP monitoring (ABPM was assessed at baseline and after treatment. Results. More significant reduction in average 24-hours systolic BP was found in groups 1 and 2 compared to group 3 (Δ%: -19.4±0,4; -21.1±0.4 and -11.8±0.6, respectively as well as diastolic BP (Δ%: -10.6±0.6; -12.9±0.4 and -4,3±0.3, respectively and other ABPM indicators. Improvement of BP circadian rhythm was found due to increase in the number of «Dipper» patients (p=0.016. More significant reduction in average daily and night systolic and diastolic BP (p=0.001, as well as daily and night BP variability (p=0.001 was also found in patients of group 2 compared to these of group 1. Conclusion. Moderate antihypertensive effect (in respect of both diastolic and systolic BP was shown when ivabradine was included into the complex therapy of patients with ischemic CHF and HT. The effect was more pronounced when ivabradine was combined with perindopril and bisoprolol. This was accompanied by reduction in high BP daily variability and improvement of the BP circadian rhythm. 

  10. ASSESSMENT OF THE CHANGES IN BLOOD PRESSURE CIRCADIAN PROFILE AND VARIABILITY IN PATIENTS WITH CHRONIC HEART FAILURE AND ARTERIAL HYPERTENSION DURING COMBINED THERAPY INCLUDING IVABRADINE

    Directory of Open Access Journals (Sweden)

    M. V. Surovtseva

    2012-01-01

    Full Text Available Aim. To assess the changes in blood pressure (BP circadian profile and variability in patients with chronic heart failure (CHF of ischemic etiology and arterial hypertension (HT due to the complex therapy including ivabradine. Material and methods. Patients (n=90 with CHF class II–III NYHA associated with stable angina II-III class and HT were examined. The patients were randomized into 3 groups depending on received drugs: perindopril and ivabradine - group 1; perindopril, bisoprolol and ivabradine - group 2; perindopril and bisoprolol - group 3. The duration of therapy was 6 months. Ambulatory BP monitoring (ABPM was assessed at baseline and after treatment. Results. More significant reduction in average 24-hours systolic BP was found in groups 1 and 2 compared to group 3 (Δ%: -19.4±0,4; -21.1±0.4 and -11.8±0.6, respectively as well as diastolic BP (Δ%: -10.6±0.6; -12.9±0.4 and -4,3±0.3, respectively and other ABPM indicators. Improvement of BP circadian rhythm was found due to increase in the number of «Dipper» patients (p=0.016. More significant reduction in average daily and night systolic and diastolic BP (p=0.001, as well as daily and night BP variability (p=0.001 was also found in patients of group 2 compared to these of group 1. Conclusion. Moderate antihypertensive effect (in respect of both diastolic and systolic BP was shown when ivabradine was included into the complex therapy of patients with ischemic CHF and HT. The effect was more pronounced when ivabradine was combined with perindopril and bisoprolol. This was accompanied by reduction in high BP daily variability and improvement of the BP circadian rhythm. 

  11. Acute dengue virus 2 infection in Gabonese patients is associated with an early innate immune response, including strong interferon alpha production

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    Nkoghe Dieudonné

    2010-12-01

    Full Text Available Abstract Background Dengue is now a leading cause of morbidity and mortality throughout the tropics. We conducted the first ex vivo study of dengue fever (DF in African patients infected during the first Gabonese dengue virus 2 (DENV-2 outbreak in 2007, in order to investigate cytokine production, including the antiviral cytokine IFN-α, reported to be a potent inhibitor of DENV replication in vitro. Methods Levels of 50 cytokines, chemokines and growth factors were measured in plasma from 36 patients with DENV-2 infection, and in uninfected controls, using Luminex multiplex technology. The results were interpreted according to the day of sampling after symptom onset. PBMC from six patients were also studied for T lymphocyte cell surface marker expression by flow cytometry. Results Acute DENV-2 infection elicited high levels of several pro-inflammatory cytokines (IL-6 and IL-17, chemokines (MIF, RANTES, IP-10 and MCP-1 and growth factors (G-CSF, GM-CSF and VEGF-A. We also observed high levels of IFN-α for the first time in adult DF patients, and CD4+ and CD8+ T cell activation at symptom onset. Conclusion Acute DENV-2 infection in African patients elicits a strong innate response involving IFN-α production, as well as an adaptive immune response.

  12. [Efficacy of treatment-and-prophylactic diets including soya-based food in elderly patients with atherogenic dislipidemia and glucose intolerance].

    Science.gov (United States)

    Shatylo, V B; Korkushko, O V; Borovs'kyĭ, V R; Anisimova, Iu M; Tarasenko, O B; Ivanova, A O

    2007-01-01

    47 elderly patients aged 60-74 with stable exertional angina of I-II functional classes and 2a type dislipidemia have been observed. The authors studied the efficacy of hypocholesteremic diet (HD) including soya-based food in comparison with the use of HD without soya-based food. Patients of the main group were prescribed HD, soya-based food (29 g of soya protein per day) and medications of a based therapy during four weeks. Patients of the control group were given HD and medications of a based therapy during the same period. The use of HD with soya-based food decreased considerably frequency and duration of exertional angina attack, increased the tolerance to physical activity resulted in more considerable decrease in concentration of blood serum common cholesterin and cholesterin of low density lipoprotein in comparison with indices of patients of the control group. Soya-based food together with HD in patients with disturbed tolerance to glucose normalized the tolerance test to glucose.

  13. Comparison the effect of two ways of tube feeding including bolus and continuous infusion on gastric residual volume and diarrhea in patients hospitalized in Intensive Care Unit

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    Shahriari M

    2015-05-01

    Full Text Available Background and Objective: Proper nutritional support is one of the important caring aspects in patients who were hospitalized in Intensive Care Unit. Although the several studies have been done concerning the selection of proper nutrition method for patients, but there is no agreement on this issue. The aim of current study was the compare the effect of two ways of tube feeding including bolus and continuous infusion on gastric residual volume and diarrhea in patients hospitalized in Intensive Care Unit.  Materials and Method: The current clinical trial was conducted on patients who were hospitalized in intensive care unit in Alzahra hospital in Isfahan, 2013. Fifty patients were selected through convenient sampling and were randomly assigned into two groups of 25 people of intervention and control. Nutrition was done through infusion pump in intervention group and by bolus in control group. Gastric residual volume and diarrhea was assessed each four hours for four days. Data were gathered through checklist and were analyzed by SPSS18 using descriptive and inferential statistics including independent T-test, Fisher's exact test and repeated measures ANOVA.  Results: The results showed that the mean of gastric residual volume in control group was more than the intervention group on the third day (p=0.04. Also, the mean of gastric residual volume did not show significant difference at different times in intervention group, but the mean of gastric residual volume was significantly increased in control group at different times (p=0.04. Fisher's exact test showed no significant difference between two groups concerning the diarrhea frequency.  Conclusion: In nutritional support with continuous infusion method, gastric residual volume was not increased and gastric emptying rate was not diminished. Therefore, this method can be used as an appropriate nutritional support in intensive care unit.

  14. The impact of a multifaceted intervention including sepsis electronic alert system and sepsis response team on the outcomes of patients with sepsis and septic shock.

    Science.gov (United States)

    Arabi, Yaseen M; Al-Dorzi, Hasan M; Alamry, Ahmed; Hijazi, Ra'ed; Alsolamy, Sami; Al Salamah, Majid; Tamim, Hani M; Al-Qahtani, Saad; Al-Dawood, Abdulaziz; Marini, Abdellatif M; Al Ehnidi, Fatimah H; Mundekkadan, Shihab; Matroud, Amal; Mohamed, Mohamed S; Taher, Saadi

    2017-12-01

    Compliance with the clinical practice guidelines of sepsis management has been low. The objective of our study was to describe the results of implementing a multifaceted intervention including an electronic alert (e-alert) with a sepsis response team (SRT) on the outcome of patients with sepsis and septic shock presenting to the emergency department. This was a pre-post two-phased implementation study that consisted of a pre-intervention phase (January 01, 2011-September 24, 2012), intervention phase I (multifaceted intervention including e-alert, from September 25, 2012-March 03, 2013) and intervention phase II when SRT was added (March 04, 2013-October 30, 2013) in a 900-bed tertiary-care academic hospital. We recorded baseline characteristics and processes of care in adult patients presenting with sepsis or septic shock. The primary outcome measures were hospital mortality. Secondary outcomes were the need for mechanical ventilation and length of stay in the intensive unit and in the hospital. After implementing the multifaceted intervention including e-alert and SRT, cases were identified with less severe clinical and laboratory abnormalities and the processes of care improved. When adjusted to propensity score, the interventions were associated with reduction in hospital mortality [for intervention phase II compared to pre-intervention: adjusted odds ratio (aOR) 0.71, 95% CI 0.58-0.85, p = 0.003], reduction in the need for mechanical ventilation (aOR 0.45, 95% CI 0.37-0.55, p < 0.0001) and reduction in ICU LOS and hospital LOS for all patients as well as ICU LOS for survivors. Implementing a multifaceted intervention including sepsis e-alert with SRT was associated with earlier identification of sepsis, increase in compliance with sepsis resuscitation bundle and reduction in the need for mechanical ventilation and reduction in hospital mortality and LOS.

  15. Evaluation of false-positive results on Tc myocardial scintigraphy in patients with coronary artery bypass grafting including left internal thoracic artery-left anterior descending artery grafting

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    Hashimoto, Koichi; Shibata, Takahiro [Jikei Univ., Tokyo (Japan). School of Medicine; Imai, Kamon

    2000-11-01

    Stress myocardial scintigraphy in patients who have undergone coronary artery bypass grafting (CABG) frequently shows false-positive results. To investigate the reason for these false-positive results, two different stress tests-adenosine triphosphate (ATP) stress testing and ergometer exercise testing, and Tc-tetrofosmin myocardial scintigraphy were performed with a 1-day stress/rest protocol. The subjects were 6 patients with a history of myocardial infarction (MI) and 14 patients with a history of angina pectoris (AP) who had undergone CABG that included left internal thoracic artery-left anterior descending artery grafting. Graft patency was confirmed with coronary angiography. Short-axis images were reconstructed with single photon emission tomography. The severity of perfusion defects on short-axis images was evaluated quantitatively with a normal database as severity score, and the difference in severity score between stress and rest was defined as fill-in. Fill-in on the ATP stress test was 3.1{+-}7.0 in the AP group and 16.3{+-}13.2 in the MI group (p<0.01). Fill-in on the exercise stress test was 2.7{+-}8.3 in the AP group and 34.8{+-}20.6 in the MI group (p<0.01). In the MI group, fill-in on the exercise stress test was significantly greater than that on the ATP stress test (p<0.05). The exercise time and the amount of exercise stress in patients with MI were significantly greater than those in patients with AP. In conclusion, coronary flow reserve may play a role in false positive-finding on myocardial perfusion scintigraphy in patients who have undergone CABG. (author)

  16. Living conditions, including life style, in primary-care patients with nonacute, nonspecific spinal pain compared with a population-based sample: a cross-sectional study

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    Odd Lindell

    2010-11-01

    Full Text Available Odd Lindell, Sven-Erik Johansson, Lars-Erik Strender1Center for Family and Community Medicine, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Huddinge, SwedenBackground: Nonspecific spinal pain (NSP, comprising back and/or neck pain, is one of the leading disorders behind long-term sick-listing, including disability pensions. Early interventions to prevent long-term sick-listing require the identification of patients at risk. The aim of this study was to compare living conditions associated with long-term sick-listing for NSP in patients with nonacute NSP, with a nonpatient population-based sample. Nonacute NSP is pain that leads to full-time sick-listing>3 weeks.Methods: One hundred and twenty-five patients with nonacute NSP, 2000–2004, were included in a randomized controlled trial in Stockholm County with the objective of comparing cognitive–behavioral rehabilitation with traditional primary care. For these patients, a cross-sectional study was carried out with baseline data. Living conditions were compared between the patients and 338 nonpatients by logistic regression. The conditions from univariate analyses were included in a multivariate analysis. The nonsignificant variables were excluded sequentially to yield a model comprising only the significant factors (P <0.05. The results are shown as odds ratios (OR with 95% confidence intervals.Results: In the univariate analyses, 13 of the 18 living conditions had higher odds for the patients with a dominance of physical work strains and Indication of alcohol over-consumption, odds ratio (OR 14.8 (95% confidence interval [CI] 3.2–67.6. Five conditions qualified for the multivariate model: High physical workload, OR 13.7 (CI 5.9–32.2; Hectic work tempo, OR 8.4 (CI 2.5–28.3; Blue-collar job, OR 4.5 (CI 1.8–11.4; Obesity, OR 3.5 (CI 1.2–10.2; and Low education, OR 2.7 (CI 1.1–6.8.Conclusions: As most of the living conditions have previously been

  17. Can consistent benchmarking within a standardized pain management concept decrease postoperative pain after total hip arthroplasty? A prospective cohort study including 367 patients

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    Benditz A

    2016-12-01

    Full Text Available Achim Benditz,1 Felix Greimel,1 Patrick Auer,2 Florian Zeman,3 Antje Göttermann,4 Joachim Grifka,1 Winfried Meissner,4 Frederik von Kunow1 1Department of Orthopedics, University Medical Center Regensburg, 2Clinic for anesthesia, Asklepios Klinikum Bad Abbach, Bad Abbach, 3Centre for Clinical Studies, University Medical Center Regensburg, Regensburg, 4Department of Anesthesiology and Intensive Care, Jena University Hospital, Jena, Germany Background: The number of total hip replacement surgeries has steadily increased over recent years. Reduction in postoperative pain increases patient satisfaction and enables better mobilization. Thus, pain management needs to be continuously improved. Problems are often caused not only by medical issues but also by organization and hospital structure. The present study shows how the quality of pain management can be increased by implementing a standardized pain concept and simple, consistent, benchmarking.Methods: All patients included in the study had undergone total hip arthroplasty (THA. Outcome parameters were analyzed 24 hours after surgery by means of the questionnaires from the German-wide project “Quality Improvement in Postoperative Pain Management” (QUIPS. A pain nurse interviewed patients and continuously assessed outcome quality parameters. A multidisciplinary team of anesthetists, orthopedic surgeons, and nurses implemented a regular procedure of data analysis and internal benchmarking. The health care team was informed of any results, and suggested improvements. Every staff member involved in pain management participated in educational lessons, and a special pain nurse was trained in each ward.Results: From 2014 to 2015, 367 patients were included. The mean maximal pain score 24 hours after surgery was 4.0 (±3.0 on an 11-point numeric rating scale, and patient satisfaction was 9.0 (±1.2. Over time, the maximum pain score decreased (mean 3.0, ±2.0, whereas patient satisfaction

  18. Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities.

    Science.gov (United States)

    Frost, Amy R; Böhm, Sabrina V; Sewduth, Raj N; Josifova, Dragana; Ogilvie, Caroline Mackie; Izatt, Louise; Roberts, Roland G

    2010-07-01

    Dystroglycan is a protein which binds directly to two proteins defective in muscular dystrophies (dystrophin and laminin alpha2) and whose own aberrant post-translational modification is the common aetiological route of neuromuscular diseases associated with mutations in genes encoding at least six other proteins (POMT1, POMT2, POMGnT1, LARGE, FKTN and FKRP). It is surprising, therefore, that to our knowledge no mutations of the human dystroglycan gene itself have yet been reported. In this study, we describe a patient with a heterozygous de novo deletion of a approximately 2-Mb region of chromosome 3, which includes the dystroglycan gene (DAG1). The patient is a 16-year-old female with learning difficulties, white matter abnormalities, elevated serum creatine kinase, oral-motor dyspraxia and facial hypotonia but minimal clinically significant involvement of other muscles. As these symptoms are a subset of those observed in disorders of dystroglycan glycosylation (muscle-eye-brain disease and Warker-Warburg syndrome), we assess the likely contribution to her phenotype of her heterogosity for a null mutation of DAG1. We also show that the transcriptional compensation observed in the Dag1(+/-) mouse is not observed in the patient. Although we cannot show that haploinsufficiency of DAG1 is the sole cause of this patient's myopathy and white matter changes, this case serves to constrain our ideas of the severity of the phenotypic consequences of heterozygosity for null DAG1 mutations.

  19. Quality of referral: What information should be included in a request for diagnostic imaging when a patient is referred to a clinical radiologist?

    Science.gov (United States)

    G Pitman, Alexander

    2017-06-01

    Referral to a clinical radiologist is the prime means of communication between the referrer and the radiologist. Current Australian and New Zealand government regulations do not prescribe what clinical information should be included in a referral. This work presents a qualitative compilation of clinical radiologist opinion, relevant professional recommendations, governmental regulatory positions and prior work on diagnostic error to synthesise recommendations on what clinical information should be included in a referral. Recommended requirements on what clinical information should be included in a referral to a clinical radiologist are as follows: an unambiguous referral; identity of the patient; identity of the referrer; and sufficient clinical detail to justify performance of the diagnostic imaging examination and to confirm appropriate choice of the examination and modality. Recommended guideline on the content of clinical detail clarifies when the information provided in a referral meets these requirements. High-quality information provided in a referral allows the clinical radiologist to ensure that exposure of patients to medical radiation is justified. It also minimises the incidence of perceptual and interpretational diagnostic error. Recommended requirements and guideline on the clinical detail to be provided in a referral to a clinical radiologist have been formulated for professional debate and adoption. © 2017 The Royal Australian and New Zealand College of Radiologists.

  20. Identification of chronic heart failure patients with a high 12-month mortality risk using biomarkers including plasma C-terminal pro-endothelin-1.

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    Ewa A Jankowska

    Full Text Available OBJECTIVES: We hypothesised that assessment of plasma C-terminal pro-endothelin-1 (CT-proET-1, a stable endothelin-1 precursor fragment, is of prognostic value in patients with chronic heart failure (CHF, beyond other prognosticators, including N-terminal pro-B-type natriuretic peptide (NT-proBNP. METHODS: We examined 491 patients with systolic CHF (age: 63±11 years, 91% men, New York Heart Association [NYHA] class [I/II/III/IV]: 9%/45%/38%/8%, 69% ischemic etiology. Plasma CT-proET-1 was detected using a chemiluminescence immunoassay. RESULTS: Increasing CT-proET-1 was a predictor of increased cardiovascular mortality at 12-months of follow-up (standardized hazard ratio 1.42, 95% confidence interval [CI] 1.04-1.95, p = 0.03 after adjusting for NT-proBNP, left ventricular ejection fraction (LVEF, age, creatinine, NYHA class. In receiver operating characteristic curve analysis, areas under curve for 12-month follow-up were similar for CT-proET-1 and NT-proBNP (p = 0.40. Both NT-proBNP and CT-proET-1 added prognostic value to a base model that included LVEF, age, creatinine, and NYHA class. Adding CT-proET-1 to the base model had stronger prognostic power (p<0.01 than adding NT-proBNP (p<0.01. Adding CT-proET-1 to NT-proBNP in this model yielded further prognostic information (p = 0.02. CONCLUSIONS: Plasma CT-proET-1 constitutes a novel predictor of increased 12-month cardiovascular mortality in patients with CHF. High CT-proET-1 together with high NT-proBNP enable to identify patients with CHF and particularly unfavourable outcomes.

  1. Influence of Alpha-1 Glycoprotein Acid Concentrations and Variants on Atazanavir Pharmacokinetics in HIV-Infected Patients Included in the ANRS 107 Trial▿

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    Barrail-Tran, A.; Mentré, F.; Cosson, C.; Piketty, C.; Chazallon, C.; Gérard, L.; Girard, P. M.; Taburet, A. M.

    2010-01-01

    Atazanavir is an HIV-1 protease inhibitor with high protein binding in human plasma. The objectives were first to determine the in vitro binding characteristics of atazanavir and second to evaluate whether plasma protein binding to albumin and alpha-1 glycoprotein acid (AAG) influences the pharmacokinetics of atazanavir in HIV-infected patients. For the in vitro study, atazanavir protein binding characteristics were determined in AAG- and albumin-containing purified solutions. Atazanavir was found to bind AAG on a high-affinity saturable site (association constant, 4.61 × 105 liters/mol) and albumin on a low-affinity nonsaturable site. For the in vivo study, blood samples from 51 patients included in trial ANRS 107—Puzzle 2 were drawn prior to drug intake at week 6. For 10 patients included in the pharmacokinetic substudy, five additional blood samples were collected during one dosing interval at week 6. Atazanavir concentrations were assayed by liquid chromatography-tandem mass spectrometry (LC-MS/MS). Albumin concentrations, AAG concentrations, and phenotypes were also measured in these patients. Concentrations of atazanavir were modeled using a population approach. A one-compartment model with first-order absorption and elimination best described atazanavir pharmacokinetics. Atazanavir pharmacokinetic parameters and their interindividual variabilities were as follows: absorption rate constant (ka), 0.73 h−1 (139.3%); apparent clearance (CL/F), 13.3 liters/h (26.7%); and apparent volume of distribution (V/F), 79.7 liters (27.0%). Atazanavir CL/F decreased significantly when alanine aminotransferase and/or AAG levels increased (P < 0.01). The ORM1*S phenotype also significantly increased atazanavir V/F (P < 0.05). These in vivo results indicate that atazanavir pharmacokinetics is moderately influenced by its protein binding, especially to AAG, without expected clinical consequences. PMID:19995932

  2. Influence of alpha-1 glycoprotein acid concentrations and variants on atazanavir pharmacokinetics in HIV-infected patients included in the ANRS 107 trial.

    Science.gov (United States)

    Barrail-Tran, A; Mentré, F; Cosson, C; Piketty, C; Chazallon, C; Gérard, L; Girard, P M; Taburet, A M

    2010-02-01

    Atazanavir is an HIV-1 protease inhibitor with high protein binding in human plasma. The objectives were first to determine the in vitro binding characteristics of atazanavir and second to evaluate whether plasma protein binding to albumin and alpha-1 glycoprotein acid (AAG) influences the pharmacokinetics of atazanavir in HIV-infected patients. For the in vitro study, atazanavir protein binding characteristics were determined in AAG- and albumin-containing purified solutions. Atazanavir was found to bind AAG on a high-affinity saturable site (association constant, 4.61x10(5) liters/mol) and albumin on a low-affinity nonsaturable site. For the in vivo study, blood samples from 51 patients included in trial ANRS 107--Puzzle 2 were drawn prior to drug intake at week 6. For 10 patients included in the pharmacokinetic substudy, five additional blood samples were collected during one dosing interval at week 6. Atazanavir concentrations were assayed by liquid chromatography-tandem mass spectrometry (LC-MS/MS). Albumin concentrations, AAG concentrations, and phenotypes were also measured in these patients. Concentrations of atazanavir were modeled using a population approach. A one-compartment model with first-order absorption and elimination best described atazanavir pharmacokinetics. Atazanavir pharmacokinetic parameters and their interindividual variabilities were as follows: absorption rate constant (ka), 0.73 h(-1) (139.3%); apparent clearance (CL/F), 13.3 liters/h (26.7%); and apparent volume of distribution (V/F), 79.7 liters (27.0%). Atazanavir CL/F decreased significantly when alanine aminotransferase and/or AAG levels increased (P<0.01). The ORM1*S phenotype also significantly increased atazanavir V/F (P<0.05). These in vivo results indicate that atazanavir pharmacokinetics is moderately influenced by its protein binding, especially to AAG, without expected clinical consequences.

  3. [Return to work of the cardiac patient: work fitness evaluation in Occupational Medicine Division including an Occupational Cardiology Unit and Work-Physiology Lab in Bergamo].

    Science.gov (United States)

    Borleri, D; Seghizzi, P; Manfredini, F; Mosconi, G

    2012-01-01

    Cardiovascular disease in working age still represent a major cause of morbidity and account for a number of fitness to work certificates expressing several limitations and prescriptions. To present the medical assessment conducted in an Occupational Medicine Division including an Occupational Cardiology Unit and work-physiology lab. It is described the history and the structure of the Occupational Cardiology Unit. Our almost forty years long-lasting experience allow us to point out the precious contribution of the Occupational Cardiology Unit to the Occupational Medicine Division, due to a highly specialised and qualified assessment of cardiac patients.

  4. Clinical profile of 266 Filipino patients with rheumatoid arthritis included in the rheumatoid arthritis database and registry (RADAR) of the Philippine General Hospital.

    Science.gov (United States)

    Penserga, Ester G; Natividad, Therese Aileen L; Salido, Evelyn S

    2015-05-01

    To describe Filipino patients with rheumatoid arthritis (RA) entered in the Rheumatoid arthritis database and registry (RADAR) of the Philippine General Hospital. Cases entered to RADAR from 2010-2012 were included. All fulfilled the 1987 American College of Rheumatology criteria for classification of RA. Included cases gave written infomed consent. Data extracted were demographics, clinical presentation, laboratory tests, treatment and disease course. Means and proportions were used for population characteristics. Two hundred and sixty-six cases were included. Mean age was 44 years, with 9 : 1 female preponderance and mean diagnosis time of 5 years. There was symmetrical polyarthritis with high tender and swollen joint count and mean Disease Activity Score of 28 joints, erythrocyte sedimentation rate of 5.27 (3.39, 8.13). Rheumatoid factor was positive in 2/3 of cases. Hypertension, tuberculosis and diabetes were important co-morbidities. Treatment included prednisone, non-steroidal anti-inflammatory drugs and methotrexate. At 12 months of treatment, evaluable cases (arthritis unit whose disease characteristics are similar to what is reported worldwide. This cohort differs from most studies in having a high female to male ratio, a long delay in diagnosis, and high attrition rate. Mean methotrexate dose was low and there was less access to biologic disease-modifying anti-rheumatic drugs. © 2014 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.

  5. A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features.

    Science.gov (United States)

    Miya, Kazushi; Shimojima, Keiko; Sugawara, Midori; Shimada, Shino; Tsuri, Hiroyuki; Harai-Tanaka, Tomomi; Nakaoka, Sachiko; Kanegane, Hirokazu; Miyawaki, Toshio; Yamamoto, Toshiyuki

    2012-09-10

    The contiguous gene syndrome involving 8p11.2 is recognized as a combined phenotype of both Kallmann syndrome and hereditary spherocytosis, because the genes responsible for these 2 clinical entities, the fibroblast growth factor receptor 1 (FGFR1) and ankyrin 1 (ANK1) genes, respectively, are located in this region within a distance of 3.2Mb. We identified a 3.7Mb deletion of 8p11.2 in a 19-month-old female patient with hereditary spherocytosis. The identified deletion included ANK1, but not FGFR1, which is consistent with the absence of any phenotype or laboratory findings of Kallmann syndrome. Compared with the previous studies, the deletion identified in this study was located on the proximal end of 8p, indicating a pure interstitial deletion of 8p11.21. This patient exhibited mild developmental delay and distinctive facial findings in addition to hereditary spherocytosis. Thus, some of the genes included in the deleted region would be related to these symptoms.

  6. [Relationship between CD4(+) T lymphocyte cell count and the prognosis (including the healing of the incision wound) of HIV/AIDS patients who had undergone surgical operation].

    Science.gov (United States)

    Yang, Di; Zhao, Hongxin; Gao, Guiju; Wei, Kai; Zhang, Li; Han, Ning; Xiao, Jiang; Li, Xin; Wang, Fang; Liang, Hongyuan; Zhang, Wei; Wu, Liang

    2014-12-01

    To explore the relationship between CD4(+) T lymphocyte cell count and prognosis as well as healing of the surgical incision in HIV/AIDS patients who had received operation. Data were collected and analysed retrospectively from 234 HIV/AIDS patients hospitalized at the Beijing Ditan hospital who underwent operation between January 2008 and December 2012. Following factors were taken into consideration that including:age, gender, time and where that anti-HIV(+) was diagnosed, CD4(+)T lymphocyte cell count at the time of operation, part of the body that being operated, typology of incision, different levels of healing on the surgical incision, infection at the incision site, post-operative complications and the prognosis, etc. Wilcoxon rank sum test, χ(2) test, Kruskal-Wallis H test and Spearman rank correlation were used for statistical analysis to compare the different levels on healing of the incision in relation to the different CD4(+)T lymphocyte cell counts. Rates of level A healing under different CD4(+)T cell counts were also compared. 1) Among the 234 patients including 125 males and 109 females, the average age was 36.17±11.56 years old. Time after discovery of anti-HIV(+)was between 0 and 204 months. The medium CD4(+)T cell count was 388.5 cell/µl; 23.93% of the patients having CD4(+)T lymphocyte cell counts as different organs affected at the time of operation, due to 48 different kinds of illness. 21.37% of the operations belonged to class I incision, 49.57% was class II incision and 29.06% was class III incision. 86.32% of the incisions resulted in level A healing, 12.51% resulted in level B and 1.71% in level C. 4.27% of the patients developed post-operative complications. Differences between level A healing and level B or C healing in terms of CD4(+)T lymphocyte cell count were not significant (P > 0.05). There was no statistically significant difference on the CD4(+) T lymphocyte count in patients with or without postoperative complications

  7. Predictive value of VEGF gene polymorphisms for metastatic colorectal cancer patients receiving first-line treatment including fluorouracil, irinotecan, and bevacizumab.

    Science.gov (United States)

    Formica, Vincenzo; Palmirotta, Raffaele; Del Monte, Girolamo; Savonarola, Annalisa; Ludovici, Giorgia; De Marchis, Maria Laura; Grenga, Italia; Schirru, Michele; Guadagni, Fiorella; Roselli, Mario

    2011-02-01

    The aim of this study is to evaluate the influence of germline vascular endothelial growth factor (VEGF) gene polymorphisms (VGPs) on the efficacy of the anti-VEGF antibody bevacizumab (Bev) in metastatic colorectal cancer (MCRC) patients. Forty MCRC patients eligible for a first-line therapy were enrolled in this prospective trial and treated with FOLinate/Fluorouracil/Irinotecan (FOLFIRI) + Bev (male/female = 22:18, age (median) = 61 years). Eight VGPs within the promoter/5'UTR region were evaluated in patient blood samples. Primary endpoint was association between VGPs and median progression-free survival (mPFS). Overall radiological response rate (ORR), overall survival (OS), and toxicity were assessed as secondary outcomes. VGPs -2578, -1512, -1451, -1411, and -460 were in complete linkage disequilibrium and therefore analyzed as haplotype (two variants: Haplo1: A-18 bp insertion-T-4G-C and Haplo2: C-18 bp deletion-C-5G-T, respectively). Seventeen patients Haplo2/Haplo2 had significantly shorter mPFS compared to 23 patients Haplo1/Haplo1 or Haplo1/Haplo2 (mPFS, 9 vs. 15.4 months, respectively, p = 0.02; hazard ratio (HR), 2.64). Also, VGPs -152 (G/G vs. G/A + A/A) and -1154 (G/G vs. G/A + A/A) were significantly associated with PFS (mPFS, 8.9 vs. 15.4 months, p = 0.007; HR, 3.53 and 9.8 vs. 16 months, p = 0.03, HR, 2.32, respectively). In the multivariate analysis including also biochemical variables known to influence prognosis, VGP -1154 retained an independent predictive value for mPFS (G/G over G/A + A/A = HR, 4.43; p = 0.02). With regard to ORR, only VGP -634 was significantly associated with response (G/G vs. G/C + C/C = 64% vs. 14%, p = 0.03). No significant influence on OS and toxicity by the investigated VGPs was observed. Although these data need to be confirmed in larger trials, investigation of germline VGPs may help identify patients who are more sensitive to anti-VEGF agents.

  8. A long-term, complex, unitary appraisal regarding neurorestorative, including neurorehabilitative, outcomes in patients treated with Cerebrolysin®, following traumatic brain injury

    Directory of Open Access Journals (Sweden)

    Daia CO

    2014-06-01

    Full Text Available Cristina O Daia,1,2 Monica Haras,1,2 Tiberiu Spircu,1 Aurelian Anghelescu,1,2 Liliana Onose,3 Alexandru Vlad Ciurea,1,2 Anca Sanda Mihaescu,2 Gelu Onose1,21Carol Davila University of Medicine and Pharmacy, Bucharest, Romania; 2Bagdasar-Arseni Teaching Emergency Hospital, Bucharest, Romania; 3Metrorex – The Medical Service, Bucharest, RomaniaBackground: Neuroprotection is a modern therapeutic concept that has some useful outcomes discussed in the literature, including for traumatic brain injury (TBI.Scope and study design: This was a retrospective case-control study that was approved by the bioethics commission of the Bagdasar-Arseni Teaching Emergency Hospital, Bucharest, Romania. The aim of the study was to comparatively assess neurorestorative, including neurorehabilitative, outcomes obtained with or without Cerebrolysin®.Materials and methods: Nineteen cases treated with Cerebrolysin versus 28 who did not receive this drug were included in this study. All cases had a subacute or post-acute status after TBI and were hospitalized (only at their first admission between January 2005 and December 2010 in the hospital's NeuroRehabilitation Clinic Division. Epidemiological, clinical, paraclinical, and functional parameters were evaluated, using the: Functional Independence Measure (FIMTM, Glasgow Outcome Score (GOS, and Modified Rankin Scale.Results: Patients in the Cerebrolysin group had, on average, higher (although not statistically significant FIM evolution values (36.53 than the control group (29.64 (P=0.174, 95% confidence interval: -8.0 to 21.8. The effect size assessed on the GOS was 2.1%. Additionally, the mean FIM value at admission of the Cerebrolysin group (45.79 was lower than that of controls (61.50; P=0.076.Discussion and conclusion: The clinical/functional evolution, comparatively evaluated in the studied inpatients, and taking into account the small sample and effect sizes – including for GOS – suggest that Cerebrolysin

  9. Treatment discontinuations with new oral agents for long-term anticoagulation: insights from a meta-analysis of 18 randomized trials including 101,801 patients.

    Science.gov (United States)

    Chatterjee, Saurav; Sardar, Partha; Giri, Jay S; Ghosh, Joydeep; Mukherjee, Debabrata

    2014-07-01

    To systematically examine discontinuation rates with new US Food and Drug Administration-approved oral anticoagulants (NOACs) in patients with various indications for long-term anticoagulation. Poor adherence to medications is considered a potential and frequent cause of treatment failure. We searched the PubMed, Cochrane Central Register of Controlled Trials, EMBASE, EBSCO, Web of Science, and CINAHL databases for articles published from January 1, 2001, through September 15, 2013. The following Medical Subject Heading terms and/or keywords were used for our database searches: rivaroxaban, dabigatran, apixaban, new oral anticoagulants, oral thrombin inhibitors, and oral factor Xa inhibitors. Articles in English that focused on randomized controlled trials (RCTs) comparing NOACs (apixaban, dabigatran, and rivaroxaban) with conventional therapy or placebo were abstracted. Independent extraction of relevant data was performed by 2 authors. The primary end point of interest was discontinuation due to all causes. Other end points of interest were discontinuation due to adverse events, consent withdrawal, and nonadherence. Eighteen RCTs including a total of 101,801 patients were included for analysis. Total study drug discontinuation rates were not statistically different with NOACs in comparison to pharmacologically active comparators for treatment of venous thromboembolism/pulmonary embolism (risk ratio [RR], 0.91; 95% CI, 0.74-1.13; P=.40) and for NOACs in comparison to warfarin and aspirin for prevention of stroke in patients with atrial fibrillation (RR, 1.01; 95% CI, 0.87-1.17; P=.92). In contrast, in acute coronary syndromes, total study drug discontinuation with NOACs was significantly higher than with placebo (RR, 1.40; 95% CI, 1.07-1.83; P=.01). Overall discontinuations were comparable to those with active comparators. Study drug discontinuations with NOACs were not significantly different from those with conventional drugs in treatment of venous

  10. Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: case report.

    Science.gov (United States)

    Kraoua, Lilia; Chaabouni, Myriam; Ewers, Elisabeth; Chelly, Imen; Ouertani, Ines; Ben Jemaa, Lamia; Maazoul, Faouzi; Liehr, Thomas; Chaabouni, Habiba

    2011-01-01

    Derivatives of chromosome 15, often referred to as inv dup(15), represent the most common supernumerary marker chromosome (SMC). SMC(15)s can be classified into two major groups according to their length: small SMC(15) and large ones. Depending on the amount of euchromatin, the carriers may either present with a normal phenotype or with a recognizable syndrome. Here we describe a patient with severe mental retardation, epilepsy, dysmorphic features and pigmentary dysplasia. His karyotype was 47,XY,+mar[41]/46,XY[9]. Chromosomal fluorescence in situ hybridization (FISH) showed the SMC to be originating from chromosome 15, dicentric and containing four copies of the Prader-Willi/Angelman Syndrome Critical Region (PWACR), including the OCA2 gene. Molecular studies indicated that it is maternally derived. This report supports the previous observations assuming that severity of phenotype in patients with SMC(15) depends on the dosage of the PWACR and that skin pigmentation is correlated to OCA2 gene copy number. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  11. Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2.

    Science.gov (United States)

    Knops, Noël B B; Bos, Krista K; Kerstjens, Mieke; van Dael, Karin; Vos, Yvonne J

    2008-07-15

    We report on an infant boy with congenital hydrocephalus due to L1 syndrome and polyuria due to diabetes insipidus. We initially believed his excessive urine loss was from central diabetes insipidus and that the cerebral malformation caused a secondary insufficient pituitary vasopressin release. However, he failed to respond to treatment with a vasopressin analogue, which pointed to nephrogenic diabetes insipidus (NDI). L1 syndrome and X-linked NDI are distinct clinical disorders caused by mutations in the L1CAM and AVPR2 genes, respectively, located in adjacent positions in Xq28. In this boy we found a deletion of 61,577 basepairs encompassing the entire L1CAM and AVPR2 genes and extending into intron 7 of the ARHGAP4 gene. To our knowledge this is the first description of a patient with a deletion of these three genes. He is the second patient to be described with L1 syndrome and NDI. During follow-up he manifested complications from the hydrocephalus and NDI including global developmental delay and growth failure with low IGF-1 and hypothyroidism.

  12. Comparative analysis of length of stay, hospitalization costs, opioid use, and discharge status among spine surgery patients with postoperative pain management including intravenous versus oral acetaminophen.

    Science.gov (United States)

    Hansen, Ryan N; Pham, An T; Böing, Elaine A; Lovelace, Belinda; Wan, George J; Miller, Timothy E

    2017-05-01

    Recovery from spine surgery is oriented toward restoring functional health outcomes while reducing resource use. Optimal pain management is a key to reaching these objectives. We compared outcomes of spine surgery patients who received standard pain management including intravenous (IV) acetaminophen (APAP) vs. oral APAP. We performed a retrospective analysis of the Premier database (January 2012 to September 2015) comparing spine surgery patients who received pain management with IV APAP to those who received oral APAP, with no exclusions based on additional pain management. We performed multivariable logistic regression for the discharge and all cause 30-day readmission to the same hospital outcomes and instrumental variable regressions using the quarterly rate of IV APAP use for all hospitalizations by hospital as the instrument in two-stage least squares regressions for length of stay (LOS), hospitalization costs, and average daily morphine equivalent dose (MED) outcomes. Models adjusted for age, gender, race, admission type, 3M All Patient Refined Diagnosis Related Group severity of illness and risk of mortality, hospital size, and indicators for whether the hospital was an academic center and whether it was urban or rural. We identified 112,586 spine surgery patients with 51,835 (46%) having received IV APAP. Subjects averaged 57 and 59 years of age respectively in the IV APAP and oral APAP cohorts and were predominantly non-Hispanic Caucasians and female. In our adjusted models, IV APAP was associated with 0.68 days shorter LOS (95% CI: -0.76 to -0.59, p < .0001), $1175 lower hospitalization costs (95% CI: -$1611 to -$739, p < .0001), 13 mg lower average daily MED (95% CI: -14 mg to -12 mg, p < .0001), 34% lower risk of discharge to a skilled nursing facility (95% CI: 0.63 to 0.69, p < .0001), and 13% less risk of 30-day readmission (95% CI: 0.73 to 1.03). Compared to oral APAP, managing post-spine-surgery pain with IV APAP is

  13. Whole-body-MR imaging including DWIBS in the work-up of patients with head and neck squamous cell carcinoma: A feasibility study

    Energy Technology Data Exchange (ETDEWEB)

    Noij, Daniel P., E-mail: d.noij@vumc.nl [Department of Radiology and Nuclear Medicine, VU University Medical Center, De Boelelaan 1117, PO Box 7057, 1007 MB Amsterdam (Netherlands); Boerhout, Els J., E-mail: e.boerhout@vumc.nl [Department of Radiology and Nuclear Medicine, VU University Medical Center, De Boelelaan 1117, PO Box 7057, 1007 MB Amsterdam (Netherlands); Pieters-van den Bos, Indra C., E-mail: i.pieters@vumc.nl [Department of Radiology and Nuclear Medicine, VU University Medical Center, De Boelelaan 1117, PO Box 7057, 1007 MB Amsterdam (Netherlands); Comans, Emile F., E-mail: efi.comans@vumc.nl [Department of Radiology and Nuclear Medicine, VU University Medical Center, De Boelelaan 1117, PO Box 7057, 1007 MB Amsterdam (Netherlands); Oprea-Lager, Daniela, E-mail: d.oprea-lager@vumc.nl [Department of Radiology and Nuclear Medicine, VU University Medical Center, De Boelelaan 1117, PO Box 7057, 1007 MB Amsterdam (Netherlands); Reinhard, Rinze, E-mail: r.reinhard@vumc.nl [Department of Radiology and Nuclear Medicine, VU University Medical Center, De Boelelaan 1117, PO Box 7057, 1007 MB Amsterdam (Netherlands); Hoekstra, Otto S., E-mail: os.hoekstra@vumc.nl [Department of Radiology and Nuclear Medicine, VU University Medical Center, De Boelelaan 1117, PO Box 7057, 1007 MB Amsterdam (Netherlands); Bree, Remco de, E-mail: r.debree@vumc.nl [Department Otolaryngology/Head and Neck Surgery, VU University Medical Center, De Boelelaan 1117, PO Box 7057, 1007 MB Amsterdam (Netherlands); Graaf, Pim de, E-mail: p.degraaf@vumc.nl [Department of Radiology and Nuclear Medicine, VU University Medical Center, De Boelelaan 1117, PO Box 7057, 1007 MB Amsterdam (Netherlands); Castelijns, Jonas A., E-mail: j.castelijns@vumc.nl [Department of Radiology and Nuclear Medicine, VU University Medical Center, De Boelelaan 1117, PO Box 7057, 1007 MB Amsterdam (Netherlands)

    2014-07-15

    Objectives: To assess the feasibility of whole-body magnetic resonance imaging (WB-MRI) including diffusion-weighted whole-body imaging with background-body-signal-suppression (DWIBS) for the evaluation of distant malignancies in head and neck squamous cell carcinoma (HNSCC); and to compare WB-MRI findings with {sup 18}F-fluorodeoxyglucose positron emission tomography/computed tomography ({sup 18}F-FDG-PET/CT) and chest-CT. Methods: Thirty-three patients with high risk for metastatic spread (26 males; range 48–79 years, mean age 63 ± 7.9 years (mean ± standard deviation) years) were prospectively included with a follow-up of six months. WB-MRI protocol included short-TI inversion recovery and T1-weighted sequences in the coronal plane and half-fourier acquisition single-shot turbo spin-echo T2 and contrast-enhanced-T1-weighted sequences in the axial plane. Axial DWIBS was reformatted in the coronal plane. Interobserver variability was assessed using weighted kappa and the proportion specific agreement (PA). Results: Two second primary tumors and one metastasis were detected on WB-MRI. WB-MRI yielded seven clinically indeterminate lesions which did not progress at follow-up. The metastasis and one second primary tumor were found when combining {sup 18}F-FDG-PET/CT and chest-CT findings. Interobserver variability for WB-MRI was κ = 0.91 with PA ranging from 0.82 to 1.00. For {sup 18}F-FDG-PET/CT κ could not be calculated due to a constant variable in the table and PA ranged from 0.40 to 0.99. Conclusions: Our WB-MRI protocol with DWIBS is feasible in the work-up of HNSCC patients for detection and characterization of distant pathology. WB-MRI can be complementary to {sup 18}F-FDG-PET/CT, especially in the detection of non {sup 18}F-FDG avid second primary tumors.

  14. Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

    Science.gov (United States)

    Ramocki, Melissa B; Bartnik, Magdalena; Szafranski, Przemyslaw; Kołodziejska, Katarzyna E; Xia, Zhilian; Bravo, Jaclyn; Miller, G Steve; Rodriguez, Diana L; Williams, Charles A; Bader, Patricia I; Szczepanik, Elżbieta; Mazurczak, Tomasz; Antczak-Marach, Dorota; Coldwell, James G; Akman, Cigdem I; McAlmon, Karen; Cohen, Melinda P; McGrath, James; Roeder, Elizabeth; Mueller, Jennifer; Kang, Sung-Hae L; Bacino, Carlos A; Patel, Ankita; Bocian, Ewa; Shaw, Chad A; Cheung, Sau Wai; Mazurczak, Tadeusz; Stankiewicz, Paweł

    2010-12-10

    We report 26 individuals from ten unrelated families who exhibit variable expression and/or incomplete penetrance of epilepsy, learning difficulties, intellectual disabilities, and/or neurobehavioral abnormalities as a result of a heterozygous microdeletion distally adjacent to the Williams-Beuren syndrome region on chromosome 7q11.23. In six families with a common recurrent ∼1.2 Mb deletion that includes the Huntingtin-interacting protein 1 (HIP1) and tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma (YWHAG) genes and that is flanked by large complex low-copy repeats, we identified sites for nonallelic homologous recombination in two patients. There were no cases of this ∼1.2 Mb distal 7q11.23 deletion copy number variant identified in over 20,000 control samples surveyed. Three individuals with smaller, nonrecurrent deletions (∼180-500 kb) that include HIP1 but not YWHAG suggest that deletion of HIP1 is sufficient to cause neurological disease. Mice with targeted mutation in the Hip1 gene (Hip1⁻(/)⁻) develop a neurological phenotype characterized by failure to thrive, tremor, and gait ataxia. Overall, our data characterize a neurodevelopmental and epilepsy syndrome that is likely caused by recurrent and nonrecurrent deletions, including HIP1. These data do not exclude the possibility that YWHAG loss of function is also sufficient to cause neurological phenotypes. Based on the current knowledge of Hip1 protein function and its proposed role in AMPA and NMDA ionotropic glutamate receptor trafficking, we believe that HIP1 haploinsufficiency in humans will be amenable to rational drug design for improved seizure control and cognitive and behavioral function.

  15. Tumor-specific hypermethylation of epigenetic biomarkers, including SFRP1, predicts for poorer survival in patients from the TCGA Kidney Renal Clear Cell Carcinoma (KIRC project.

    Directory of Open Access Journals (Sweden)

    Christopher J Ricketts

    Full Text Available The recent publication of the TCGA Kidney Renal Clear Cell Carcinoma (KIRC project has provided an immense wealth and breadth of data providing an invaluable tool for confirmation and expansion upon previous observations in a large data set containing multiple data types including DNA methylation, somatic mutation, and clinical information. In clear cell renal cell carcinoma (CCRCC many genes have been demonstrated to be epigenetically inactivated by promoter hypermethylated and in a small number of cases to be associated with clinical outcome. This study created two cohorts based on the Illumina BeadChip array used to confirm the frequency of tumor-specific hypermethylation of these published hypermethylated genes, assess the impact of somatic mutation or chromosomal loss and provide the most comprehensive assessment to date of the association of this hypermethylation with patient survival. Hypermethylation of the Fibrillin 2 (FBN2 gene was the most consistent epigenetic biomarker for CCRCC across both cohorts in 40.2% or 52.5% of tumors respectively. Hypermethylation of the secreted frizzled-related protein 1 (SFRP1 gene and the basonuclin 1 (BNC1 gene were both statistically associated with poorer survival in both cohorts (SFRP1 - p = <0.0001 or 0.0010 and BNC1 - p = <0.0001 or 0.0380 and represented better independent markers of survival than tumor stage, grade or dimension in one cohort and tumor stage or dimension in the other cohort. Loss of the SFRP1 protein can potentially activate the WNT pathway and this analysis highlighted hypermethylation of several other WNT pathway regulating genes and demonstrated a poorer survival outcome for patients with somatic mutation of these genes. The success of demethylating drugs in hematological malignances and the current trials in solid tumors suggest that the identification of clinically relevant hypermethylated genes combined with therapeutic advances may improve the effectiveness and

  16. Andalusian Registry for Familial Adenomatous Polyposis: Analysis of patients included Registro Andaluz de la Poliposis Adenomatosa Familiar: Análisis de los pacientes incluidos

    Directory of Open Access Journals (Sweden)

    M. Garzón Benavides

    2010-11-01

    Full Text Available Objective: To evaluate the phenotype and genotype characteristic of patients included in the Andalusian Registry for familial adenomatous polyposis, the genotype/phenotype correlation and the impact of Registry in the frequency of colorectal cancer of registered. Material and methods: A descriptive study of 77 patients with FAP belonging to 33 families, included in a centralized database visited by the physicians of the hospitals taking part in the present study, on prior signing of confidentiality letters. All genetic studies were carried out in the Immunology Service of our institution. Results: We have included in our study 77 patients of 33 families; 31 probands with a mean age of 32 years (13-51 and 46 relatives at risk with a mean age of 21.8 years (6-55. Genetic study informed in 68/77 with positive result in 92.6%. Ten probands showed colorectal cancer (CRC at the time of diagnosis (32.2%. Only two affected relatives showed CRC at diagnosis (4.3%, a statistically significant difference (p Objetivos: Valorar las características fenotípicas y genotípicas de los pacientes incluidos en el Registro Andaluz de la poliposis adenomatosa familiar, la relación genotipo/fenotipo y el impacto del Registro en la frecuencia de cáncer colorrectal de los familiares registrados. Material y métodos: Estudio descriptivo de 77 pacientes con PAF, pertenecientes a 33 familias, incluidos en una base de datos centralizada a la que tienen acceso los responsables de los hospitales participantes, previa firma de cartas de confidencialidad. Todos los estudios genéticos se realizan en el Servicio de Inmunología de nuestro Hospital. Resultados: 77 pacientes registrados (50,6% varones: 31 probandos, edad media: 32 años (13-51 y 46 familiares afectos, edad media 21,8 años (6-55. Estudio genético informado en 68/77 con resultado positivo en 92,6%. Cáncer colorrectal al diagnóstico en diez probandos (32,2% y 2 familiares afectos (4,3%, diferencia estad

  17. THE INFLUENCE OF COMBINATION NON-MEDICAL TREATMENT INCLUDING FUNCTIONAL PROGRAMMED ELECTRICAL STIMULATION ON THE CLINICAL AND INSTRUMENTAL PARAMETERS IN PATIENTS WITH CEREBRAL PALSY WITH SPASTIC DIPLEGIA

    Directory of Open Access Journals (Sweden)

    V. V. Eliseev

    2015-01-01

    Full Text Available Background: Cerebral palsy is the leading cause of physical disability in pediatric  age. The search for new methods and improvement of old rehabil- itation techniques is ongoing, due to low efficacy of the latter. Aim: To assess the efficacy of a func- tional programmed electrical muscle stimulation as a part  of combination treatment of patients with cerebral palsy in the form of spastic diplegia. Materials and methods: We analyzed the results of treatment of 71 children with cerebral palsy and spastic diplegia, who had  been  randomized  into two groups  depending on the type of treatment. In  the  first group,  the  patients  (n = 38 received a course of functional programmed electric stim- ulation  in combination with  other  non-medical treatment  methods.  The  second   group   (n = 33 underwent a usual  course  of electrical  stimula- tion in combination with non-medical  treatment, similar to that  in the first group. The third group (control   included   41   children   without    cere- bral palsy. Clinical and  instrumental parameters were  assessed  in all study  participants. Results: After the course of combination treatment in the group  1, the  tonus  of m. gastrocnemius was de- creased significantly by 41%, that of the posterior group  of femur muscles by 43%, adductor group of femur muscles by 36%. In the group  2, the re- spective parameters decreased by 24, 21 and 21%. Muscle power  endurance was  increased  signifi- cantly in patients of both groups: that of long back extensors by 12.5 and 6.2 sec, of m. rectus abdomi- nis by 10.6 sec and 5.2 sec, of gluteal muscles by 9.3 and 4.6 sec, of m. quadriceps  by 19.8 and 7.2 sec, of m. anterior  tibialis by 12.1 and 4.6 sec, respec- tively. After the  treatment, the  active movement volume in the large joints of lower extremities  in the group 1 patients  improved as follows: by 15.6° in hip joints, by 11.1° in knee joints and by

  18. An Upregulation in the Expression of Vanilloid Transient Potential Channels 2 Enhances Hypotonicity-Induced Cytosolic Ca2+ Rise in Human Induced Pluripotent Stem Cell Model of Hutchinson Gillford Progeria

    Science.gov (United States)

    Ho, Jenny Chung-Yee; Siu, Chung-Wah; Cheung, Sin-Ying; Tang, Nelson L.; Yu, Shan; Tse, Hung-Fat; Yao, Xiaoqiang

    2014-01-01

    Hutchinson-Gillford Progeria Syndrome (HGPS) is a fatal genetic disorder characterized by premature aging in multiple organs including the skin, musculoskeletal and cardiovascular systems. It is believed that an increased mechanosensitivity of HGPS cells is a causative factor for vascular cell death and vascular diseases in HGPS patients. However, the exact mechanism is unknown. Transient receptor potential (TRP) channels are cationic channels that can act as cellular sensors for mechanical stimuli. The aim of this present study was to examine the expression and functional role of TRP channels in human induced pluripotent stem cell-derived endothelial cells (iPSC-ECs) from the patients with HGPS. The mRNA and protein expression of TRP channels in HGPS and control (IMR90) iPSC-ECs were examined by semi-quantitative RT-PCRs and immunoblots, respectively. Hypotonicity-induced cytosolic Ca2+ ([Ca2+]i) rise in iPSC-ECs was measured by confocal microscopy. RT-PCRs and immunoblots showed higher expressional levels of TRPV2 in iPSC-ECs from HGPS patients than those from normal individuals. In functional studies, hypotonicity induced a transient [Ca2+]i rise in iPSC-ECs from normal individuals but a sustained [Ca2+]i elevation in iPSC-ECs from HGPS patients. A nonselective TRPV inhibitor, ruthenium red (RuR, 20 µM), and a specific TRPV2 channel inhibitor, tranilast (100 µM), abolished the sustained phase of hypotonicity-induced [Ca2+]i rise in iPSC-ECs from HGPS patients, and also markedly attenuated the transient phase of the [Ca2+]i rise in these cells. Importantly, a short 10 min hypotonicity treatment caused a substantial increase in caspase 8 activity in iPSC-ECs from HGPS patients but not in cells from normal individuals. Tranilast could also inhibit the hypotonicity-induced increase in caspase 8 activity. Taken together, our data suggest that an up-regulation in TRPV2 expression causes a sustained [Ca2+]i elevation in HGPS-iPSC-ECs under hypotonicity, consequently

  19. An upregulation in the expression of vanilloid transient potential channels 2 enhances hypotonicity-induced cytosolic Ca²⁺ rise in human induced pluripotent stem cell model of Hutchinson-Gillford Progeria.

    Directory of Open Access Journals (Sweden)

    Chun-Yin Lo

    Full Text Available Hutchinson-Gillford Progeria Syndrome (HGPS is a fatal genetic disorder characterized by premature aging in multiple organs including the skin, musculoskeletal and cardiovascular systems. It is believed that an increased mechanosensitivity of HGPS cells is a causative factor for vascular cell death and vascular diseases in HGPS patients. However, the exact mechanism is unknown. Transient receptor potential (TRP channels are cationic channels that can act as cellular sensors for mechanical stimuli. The aim of this present study was to examine the expression and functional role of TRP channels in human induced pluripotent stem cell-derived endothelial cells (iPSC-ECs from the patients with HGPS. The mRNA and protein expression of TRP channels in HGPS and control (IMR90 iPSC-ECs were examined by semi-quantitative RT-PCRs and immunoblots, respectively. Hypotonicity-induced cytosolic Ca²⁺ ([Ca²⁺](i rise in iPSC-ECs was measured by confocal microscopy. RT-PCRs and immunoblots showed higher expressional levels of TRPV2 in iPSC-ECs from HGPS patients than those from normal individuals. In functional studies, hypotonicity induced a transient [Ca²⁺](i rise in iPSC-ECs from normal individuals but a sustained [Ca²⁺](i elevation in iPSC-ECs from HGPS patients. A nonselective TRPV inhibitor, ruthenium red (RuR, 20 µM, and a specific TRPV2 channel inhibitor, tranilast (100 µM, abolished the sustained phase of hypotonicity-induced [Ca²⁺](i rise in iPSC-ECs from HGPS patients, and also markedly attenuated the transient phase of the [Ca²⁺](i rise in these cells. Importantly, a short 10 min hypotonicity treatment caused a substantial increase in caspase 8 activity in iPSC-ECs from HGPS patients but not in cells from normal individuals. Tranilast could also inhibit the hypotonicity-induced increase in caspase 8 activity. Taken together, our data suggest that an up-regulation in TRPV2 expression causes a sustained [Ca²⁺](i elevation in HGPS

  20. An upregulation in the expression of vanilloid transient potential channels 2 enhances hypotonicity-induced cytosolic Ca²⁺ rise in human induced pluripotent stem cell model of Hutchinson-Gillford Progeria.

    Science.gov (United States)

    Lo, Chun-Yin; Tjong, Yung-Wui; Ho, Jenny Chung-Yee; Siu, Chung-Wah; Cheung, Sin-Ying; Tang, Nelson L; Yu, Shan; Tse, Hung-Fat; Yao, Xiaoqiang

    2014-01-01

    Hutchinson-Gillford Progeria Syndrome (HGPS) is a fatal genetic disorder characterized by premature aging in multiple organs including the skin, musculoskeletal and cardiovascular systems. It is believed that an increased mechanosensitivity of HGPS cells is a causative factor for vascular cell death and vascular diseases in HGPS patients. However, the exact mechanism is unknown. Transient receptor potential (TRP) channels are cationic channels that can act as cellular sensors for mechanical stimuli. The aim of this present study was to examine the expression and functional role of TRP channels in human induced pluripotent stem cell-derived endothelial cells (iPSC-ECs) from the patients with HGPS. The mRNA and protein expression of TRP channels in HGPS and control (IMR90) iPSC-ECs were examined by semi-quantitative RT-PCRs and immunoblots, respectively. Hypotonicity-induced cytosolic Ca²⁺ ([Ca²⁺](i)) rise in iPSC-ECs was measured by confocal microscopy. RT-PCRs and immunoblots showed higher expressional levels of TRPV2 in iPSC-ECs from HGPS patients than those from normal individuals. In functional studies, hypotonicity induced a transient [Ca²⁺](i) rise in iPSC-ECs from normal individuals but a sustained [Ca²⁺](i) elevation in iPSC-ECs from HGPS patients. A nonselective TRPV inhibitor, ruthenium red (RuR, 20 µM), and a specific TRPV2 channel inhibitor, tranilast (100 µM), abolished the sustained phase of hypotonicity-induced [Ca²⁺](i) rise in iPSC-ECs from HGPS patients, and also markedly attenuated the transient phase of the [Ca²⁺](i) rise in these cells. Importantly, a short 10 min hypotonicity treatment caused a substantial increase in caspase 8 activity in iPSC-ECs from HGPS patients but not in cells from normal individuals. Tranilast could also inhibit the hypotonicity-induced increase in caspase 8 activity. Taken together, our data suggest that an up-regulation in TRPV2 expression causes a sustained [Ca²⁺](i) elevation in HGPS

  1. Patient-related predictors of implant failure after primary total hip replacement in the initial, short- and long-terms. A nationwide Danish follow-up study including 36,984 patients

    DEFF Research Database (Denmark)

    Johnsen, S.P.; Sørensen, H.T.; Lucht, Ulf

    2006-01-01

    We examined the association between patient-related factors and the risk of initial, short- and long-term implant failure after primary total hip replacement. We used data from the Danish Hip Arthroplasty Registry between 1 January 1995 and 31 December 2002, which gave us a total of 36 984 patients....... Separate analyses were carried out for three follow-up periods: 0 to 30 days, 31 days to six months (short term), and six months to 8.6 years after primary total hip replacement (long term). The outcome measure was defined as time to failure, which included re-operation with open surgery for any reason...

  2. Molecular analysis of hepatitis B virus (HBV in an HIV co-infected patient with reactivation of occult HBV infection following discontinuation of lamivudine-including antiretroviral therapy

    Directory of Open Access Journals (Sweden)

    Costantini Andrea

    2011-11-01

    Full Text Available Abstract Background Occult hepatitis B virus (HBV infection (OBI is characterized by HBV DNA persistence even though the pattern of serological markers indicates an otherwise resolved HBV infection. Although OBI is usually clinically silent, immunocompromised patients may experience reactivation of the liver disease. Case presentation We report the case of an individual with human immunodeficiency virus (HIV infection and anti-HBV core antibody positivity, who experienced severe HBV reactivation after discontinuation of lamivudine-including antiretroviral therapy (ART. HBV sequencing analysis showed a hepatitis B surface antigen escape mutant whose presence in an earlier sample excluded reinfection. Molecular sequencing showed some differences between two isolates collected at a 9-year interval, indicating HBV evolution. Resumption of ART containing an emtricitabine/tenofovir combination allowed control of plasma HBV DNA, which fell to undetectable levels. Conclusion This case stresses the ability of HBV to evolve continuously, even during occult infection, and the effectiveness of ART in controlling OBI reactivation in HIV-infected individuals.

  3. In a patient with biclonal Waldenstrom macroglobulinemia only one clone expands in three-dimensional culture and includes putative cancer stem cells.

    Science.gov (United States)

    Kirshner, Julia; Thulien, Kyle J; Kriangkum, Jitra; Motz, Sarah; Belch, Andrew R; Pilarski, Linda M

    2011-02-01

    A small percentage of cases of Waldenstrom macroglobulinemia (WM) present with biclonality, defined here as the rearrangement of two distinct VDJ gene segments. Here we investigated the expansion of two clones from a patient with WM expressing molecularly detectable clonotypic gene rearrangements, one V(H)3 and one V(H)4. Biclonality was determined in blood and bone marrow mononuclear cells using real-time quantitative PCR (RQ-PCR). V(H)4 expressing cells but not V(H)3 expressing cells underwent clonal expansion in 3-D culture of reconstructed WM bone marrow. After 3-D culture, secondary culture in a colony forming unit assay, and RQ-PCR, only the V(H)4 clone was shown to harbor a subpopulation with characteristics of cancer stem cells, including proliferative quiescence, self-regeneration, and the ability to generate clonotypic progeny, suggesting that the V(H)4, but not the V(H)3, clone is clinically significant. Enrichment of potential WM stem cells in 3-D cultures holds promise for monitoring their response to treatment and for testing new therapies.

  4. Sera from patients with anti-GBM nephritis including goodpasture syndrome show heterogenous reactivity to recombinant NC1 domain of type IV collagen alpha chains.

    Science.gov (United States)

    Dehan, P; Weber, M; Zhang, X; Reeders, S T; Foidart, J M; Tryggvason, K

    1996-11-01

    Goodpasture (GP) syndrome is defined by the clinical association of pulmonary haemorrhage with rapidly progressive glomerulonephritis. The disease is caused by pathogenic autoantibodies directed against type IV collagen, which is a major structural component of glomerular basement membranes (GBM). The non-collagenous domains (NC1) of all six human type IV collagen alpha chains was produced in E. coli as recombinant fusion proteins with glutathione-S transferase. Sera from 10 patients with different types of anti-GBM nephritis, including GP syndrome, were tested for reactivity with the six proteins using immunoblotting of denatured and reduced proteins and ELISA without reduction. All 10 sera reacted with the alpha 3 (IV) collagen chain by immunoblotting and ELISA. One serum also recognized the alpha 2(IV), alpha 4(IV), alpha 5(IV) and alpha 6(IV) chains by immunoblotting. ELISA measurements revealed reactivity of several other sera with alpha 2(IV), alpha 4(IV) or alpha 6(IV) but not with alpha 5(IV) collagen chains. No reactivity was observed with the alpha 1(IV) chain. Autoantibodies in anti-GBM nephritis may not be directed only against the alpha 3(IV) collagen chain and they frequently recognize conformational epitopes.

  5. Lamin A-dependent nuclear defects in human aging.

    Science.gov (United States)

    Scaffidi, Paola; Misteli, Tom

    2006-05-19

    Mutations in the nuclear structural protein lamin A cause the premature aging syndrome Hutchinson-Gilford progeria (HGPS). Whether lamin A plays any role in normal aging is unknown. We show that the same molecular mechanism responsible for HGPS is active in healthy cells. Cell nuclei from old individuals acquire defects similar to those of HGPS patient cells, including changes in histone modifications and increased DNA damage. Age-related nuclear defects are caused by sporadic use, in healthy individuals, of the same cryptic splice site in lamin A whose constitutive activation causes HGPS. Inhibition of this splice site reverses the nuclear defects associated with aging. These observations implicate lamin A in physiological aging.

  6. Risk of second non-breast cancer among patients treated with and without postoperative radiotherapy for primary breast cancer: A systematic review and meta-analysis of population-based studies including 522,739 patients

    DEFF Research Database (Denmark)

    Grantzau, Trine; Overgaard, Jens

    2016-01-01

    -irradiated women. Irradiated patients had an overall increased risk of second non-breast cancer, with a SIR of 1.23 (95% confidence interval [CI] 1.12-1.36). For non-irradiated patients the SIR was 1.08 (95% CI, 1.03-1.13). For irradiated patients the incidence of second cancers including the lung, esophagus......, thyroid and connective tissues progressively increased over time, peaking at 10-15years following breast cancer diagnosis. Summary estimates at ⩾15years after breast cancer irradiation were 1.91 for lung, 2.71 for esophagus, 3.15 for thyroid and 6.54 at ⩾10years for second sarcomas. Non......-irradiated patients had no increased risk of second lung or esophagus cancer, neither overall nor over time. For non-irradiated patients' risk of second thyroid cancer (SIR 1.21) and sarcomas (SIR 1.42) were increased overall, but with no remaining risk ⩾10 after breast cancer. CONCLUSION: Radiotherapy for breast...

  7. Incremental Blood Pressure-Lowering Effect of Titrating Amlodipine for the Treatment of Hypertension in Patients Including Those Aged ≥55 Years.

    Science.gov (United States)

    Jeffers, Barrett W; Bhambri, Rahul; Robbins, Jeffery

    2015-01-01

    Small reductions in blood pressure reduce the risk of cardiovascular events. Here, we report 2 post hoc pooled analyses assessing the antihypertensive effect of amlodipine in patients who had not responded to 5 mg and were uptitrated to 10 mg. The first analysis assessed subgroups of patients aged either younger than 55 years or 55 years or older and the second analysis pooled all patients irrespective of age. Of 706 patients in the age-related analysis, a statistically significant decrease in blood pressure from baseline was observed {for younger than 55 years [N = 253]: systolic blood pressure = -12.8 [standard error (SE) = 0.90] mm Hg, diastolic blood pressure = -8.0 [SE = 0.55] mm Hg; for 55 years or older [N = 453]: systolic blood pressure = -12.1 [SE = 0.66] mm Hg, diastolic blood pressure = -6.7 [SE = 0.39] mm Hg; all P 55 and 55 years or older, respectively, achieved their blood pressure goals. Adverse events were experienced by 62 (24.5%) patients aged younger than 55 years and 136 (30.0%) patients aged 55 years or older. Similar efficacy and safety results were seen in the all patient pooled analysis. Titration of amlodipine from 5 mg to 10 mg significantly decreased blood pressure in older hypertensive patients, which is clinically relevant because increased age is associated with hypertension and cardiovascular events.

  8. Do elevated serum IgM levels have to be included in probable diagnosis criteria of patients with ataxia-telangiectasia?

    Science.gov (United States)

    Azarsiz, E; Karaca, N E; Gunaydin, N C; Gulez, N; Ozturk, C; Aksu, G; Genel, F; Kutukculer, N

    2014-01-01

    Ataxia-telangiectasia (AT) is a rare multisystem, neurodegenerative genetic disorder that is characterised by progressive neurological abnormalities, oculocutaneous telangiectasias and immunodeficiency. Delay in diagnosis or misdiagnosis is probable due to its wide clinical heterogeneity in infancy. Recurrent sinopulmonary infections are often the only presenting symptom and usually patients have decreased immunoglobulins. A total 10% of patients who present with decreased serum immunoglobulin G and A and with normal or elevated immunoglobulin M levels are often misdiagnosed as hyperimmunoglobulin M syndrome. Definitive diagnosis is made if a patient with progressive cerebellar ataxia has a disease causing mutation on the ATM gene. Ataxia-telangiectasia guideline of the European Society for Immunodeficiencies defines the probable diagnosis criteria. We evaluated twenty ataxia-telangiectasia patients (mean age 13.8±4.1 years) retrospectively who were followed-up for a mean of 38.6±27.0 months. Twelve patients had a family history of consanguinity. A total of 80% patients suffered from various infections. Neoplasms occurred in three of them. Patients showed immunological abnormalities as low IgG (45%), low IgA (65%) and elevated IgM (60%) levels. CD3+CD4+ T lymphocyte frequency was low in 45% patients. The mean AFP concentration at the diagnosis was 191.9±140.1 ng/mL and the raised IgM values did not show any statistically significant relationship with high AFP concentrations. Frequency of the elevated IgM concentrations in (60%) patients raises the concerns about thinking this finding has to be accepted as a probable diagnosis criterium.

  9. Pharmacokinetics of digoxin cross-reacting substances in patients with acute yellow Oleander (Thevetia peruviana) poisoning, including the effect of activated charcoal.

    Science.gov (United States)

    Roberts, Darren M; Southcott, Emma; Potter, Julia M; Roberts, Michael S; Eddleston, Michael; Buckley, Nick A

    2006-12-01

    Intentional self-poisonings with seeds from the yellow oleander tree (Thevetia peruviana) are widely reported. Activated charcoal has been suggested to benefit patients with yellow oleander poisoning by reducing absorption and/or facilitating elimination. Two recent randomized controlled trials (RCTs) assessing the efficacy of activated charcoal yielded conflicting outcomes in terms of mortality. The effect of activated charcoal on the pharmacokinetics of Thevetia cardenolides has not been assessed. This information may be useful for determining whether further studies are necessary. Serial blood samples were obtained from patients enrolled in an RCT assessing the relative efficacy of single-dose and multiple-dose activated charcoal (SDAC and MDAC, respectively) compared with no activated charcoal (NoAC). The concentration of Thevetia cardenolides was estimated with a digoxin immunoassay. The effect of activated charcoal on cardenolide pharmacokinetics was compared between treatment groups by determining the area under the curve for each patient in the 24 hours following admission, the 24-hour mean residence time, and regression lines obtained from serial concentration points, adjusted for exposure. Erratic and prolonged absorption patterns were noted in each patient group. The apparent terminal half-life was highly variable, with a median time of 42.9 hours. There was a reduction in 24-hour mean residence time and in the apparent terminal half-life estimated from linear regression in patients administered activated charcoal, versus the control group (NoAC). This effect was approximately equal in patients administered MDAC or SDAC. Activated charcoal appears to favorably influence the pharmacokinetic profile of Thevetia cardenolides in patients with acute self-poisoning and may have clinical benefits. Given the conflicting clinical outcomes noted in previous RCTs, these mechanistic data support the need for further studies to determine whether a particular subgroup

  10. P-Wave Dispersion in Patients with Constrictive Pericarditis of Non-Ischemic Etiology Including Tubercoulous and Non-Tuberculous Subjects: A Pilot Study

    Directory of Open Access Journals (Sweden)

    Gholam Reza Rezaian

    2014-09-01

    Full Text Available Background: Although P-wave dispersion has proven to be a reliable electrocardiographic predictor of Atrial Fibrillation (AF in many clinical settings, its significance in patients with Constrictive Pericarditis (CP of non-ischemic origin is to be reported.. Objectives: This study aimed to find out whether p-wave dispersion is prolonged in patients with documented CP of non-ischemic origin.. Patients and Methods: This study was conducted on twenty patients with CP, 16 males and 4 females, with the mean age of 39.0 ± 20.5 years and 20 age- and sex-matched healthy subjects. All the Electrocardiograms (ECGs were scanned and the P-wave parameters were measured electronically after × 400% magnification.. Results: Our main finding was a significantly prolonged maximum P-wave duration (P = 0.018 and P-wave dispersion (P = 0.049 in the patients with CP compared to the control group. These parameters, however, did not have any correlation with the patients’ age and disease duration.. Conclusions: Since AF is common in patients with CP of any etiology and may have a negative impact on their outcome, detection of individuals susceptible to development of AF could be of great clinical value..

  11. p53 Expression in Pretreatment Specimen Predicts Response to Neoadjuvant Chemotherapy Including Anthracycline and Taxane in Patients with Primary Breast Cancer.

    Directory of Open Access Journals (Sweden)

    Shien,Tadahiko

    2013-06-01

    Full Text Available While clinical and pathologic responses are important prognostic parameters, biological markers from core needle biopsy (CNB are needed to predict neoadjuvant chemotherapy (NAC response, to individualize treatment, and to achieve maximal efficacy. We retrospectively evaluated the cases of 183 patients with primary breast cancer who underwent surgery after NAC (anthracycline and taxane at the National Cancer Center Hospital (NCCH. We analyzed EGFR, HER2, and p53 expression and common clinicopathological features from the CNB and surgical specimens of these patients. These biological markers were compared between sensitive patients (pathological complete response;pCR and insensitive patients (clinical no change;cNC and clinical progressinve disease;cPD. In a comparison between the 9 (5% sensitive patients and 30 (16% insensitive patients, overexpression of p53 but not overexpression of either HER2 or EGFR was associated with a good response to NAC. p53 (p=0.045 and histological grade 3 (p=0.011 were important and significant predictors of the response to NAC. The correspondence rates for histological type, histological grade 3, ER, PgR, HER2, p53, and EGFR in insensitive patients between CNB and surgical specimens were 70%, 73%, 67%, 70%, 80%, 93%, and 73%. The pathologic response was significantly associated with p53 expression and histological grade 3. The correspondence rate of p53 expression between CNB and surgical specimens was higher than that of other factors. We conclude that the level of p53 expression in the CNB was an effective and reliable predictor of treatment response to NAC.

  12. Stereotactic body radiation therapy for patients with recurrent pancreatic adenocarcinoma at the abdominal lymph nodes or postoperative stump including pancreatic stump and other stump

    Directory of Open Access Journals (Sweden)

    Zeng XL

    2016-06-01

    Full Text Available Xian-Liang Zeng,* Huan-Huan Wang,* Mao-Bin Meng, Zhi-Qiang Wu, Yong-Chun Song, Hong-Qing Zhuang, Dong Qian, Feng-Tong Li, Lu-Jun Zhao, Zhi-Yong Yuan, Ping Wang Department of Radiation Oncology, Tianjin’s Clinical Research Center for Cancer and Key Laboratory of Cancer Prevention and Therapy, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin, People’s Republic of China *These authors contributed equally to this work Background and aim: The aim of this study is to evaluate the efficacy and safety of stereotactic body radiation therapy (SBRT using CyberKnife in the treatment of patients with recurrent pancreatic adenocarcinoma at the abdominal lymph node or stump after surgery. Patients and methods: Between October 1, 2006 and May 1, 2015, patients with recurrent pancreatic adenocarcinoma at the abdominal lymph node or stump after surgery were enrolled and treated with SBRT at our hospital. The primary end point was local control rate after SBRT. Secondary end points were overall survival, time to symptom alleviation, and toxicity, assessed using the Common Terminology Criteria for Adverse Events version 4.0. Results: Twenty-four patients with 24 lesions (17 abdominal lymph nodes and seven stumps were treated with SBRT, of which five patients presented with abdominal lymph nodes and synchronous metastases in the liver and lung. The 6-, 12-, and 24-month actuarial local control rates were 95.2%, 83.8%, and 62.1%, respectively. For the entire cohort, the median overall survival from diagnosis and SBRT was 28.9 and 12.2 months, respectively. Symptom alleviation was observed in eleven of 14 patients (78.6% within a median of 8 days (range, 1–14 days after SBRT. Nine patients (37.5% experienced Common Terminology Criteria for Adverse Events version 4.0 grade 1–2 acute toxicities; one patient experienced grade 3 acute toxicity due to thrombocytopenia. Conclusion: SBRT is a safe and

  13. Association between TSH-Receptor Autoimmunity, Hyperthyroidism, Goitre, and Orbitopathy in 208 Patients Included in the Remission Induction and Sustenance in Graves’ Disease Study

    Directory of Open Access Journals (Sweden)

    Peter Laurberg

    2014-01-01

    Full Text Available Background. Graves’ disease may have a number of clinical manifestations with varying degrees of activity that may not always run in parallel. Objectives. To study associations between serum levels of TSH-receptor autoantibodies and the three main manifestations of Graves’ disease (hyperthyroidism, goiter, and presence of orbitopathy at the time of diagnosis of hyperthyroidism. Methods. We describe a cohort of 208 patients with newly diagnosed Graves’ hyperthyroidism. Patients were enrolled in a multiphase study of antithyroid drug therapy of Graves’ hyperthyroidism, entitled “Remission Induction and Sustenance in Graves’ Disease (RISG.” Patients were systematically tested for degree of biochemical hyperthyroidism, enlarged thyroid volume by ultrasonography, and the presence of orbitopathy. Results. Positive correlations were found between the levels of TSH-receptor autoantibodies in serum and the three manifestations of Graves’ disease: severeness of hyperthyroidism, presence of enlarged thyroid, and presence of orbitopathy, as well as between the different types of manifestations. Only around half of patients had enlarged thyroid gland at the time of diagnosis of hyperthyroidism, whereas 25–30% had orbitopathy. Conclusions. A positive but rather weak correlation was found between TSH-receptor antibodies in serum and the major clinical manifestation of Graves’ disease. Only half of the patients had an enlarged thyroid gland at the time of diagnosis.

  14. Radiation doses to patients in computed tomography including a ready reckoner for dose estimation; Patientdoser vid datortomografi med lathund foer beraekning av effektiv dos

    Energy Technology Data Exchange (ETDEWEB)

    Szendroe, G.; Axelsson, B.; Leitz, W.

    1995-11-01

    The radiation burden from CT-examinations is still growing in most countries and has reached a considerable part of the total from medical diagnostic x-ray procedures. Efforts for avoiding excess radiation doses are therefore especially well motivated within this field. A survey of CT-examination techniques practised in Sweden showed that standard settings for the exposure variables are used for the vast majority of examinations. Virtually no adjustments to the patient`s differences in anatomy have been performed - even for infants and children on average the same settings have been used. The adjustment of the exposure variables to the individual anatomy offers a large potential of dose savings. Amongst the imaging parameters, a change of the radiation dose will primarily influence the noise. As a starting point it is assumed that, irrespective of the patient`s anatomy, the same level of noise can be accepted for a certain diagnostic task. To a large extent the noise level is determined by the number of photons that are registered in the detector. Hence, for different patient size and anatomy, the exposure should be adjusted so that the same transmitted photon fluence is achieved. An appendix with a ready reckoner for dose estimation for CT-scanners used in Sweden is attached. 7 refs, 5 figs, 8 tabs.

  15. [Effect of complex therapy including ATP-long on left ventricular diastolic function in patients with ischemic heart disease at rest and under isometric load].

    Science.gov (United States)

    Amosova, E N; Bereza, N V; Potapkova, I V

    2002-01-01

    The study comprised 34 patients with ischemic heart disease (IHD) stable functional class I-II extertional angina with impaired relaxation type diastolic dysfunction of the left ventricle. Instituted in all patients before and after the combined treatment involving the use of ATP-Long (group I) or ATP solution injectable i.m. (group II) was dopplercardiometry in rest and at the peak of isometric load. The course of ATP treatments administration was ten days in duration. The use in a combined treatment IHD patients of ATP-Long, a new metabolic-action type drug preparation of Ukraine, permits improving parameters of the diastole temporal patterns, as evidenced by results of the studies made.

  16. Endoscopy in patients on antiplatelet or anticoagulant therapy, including direct oral anticoagulants: British Society of Gastroenterology (BSG) and European Society of Gastrointestinal Endoscopy (ESGE) guidelines

    Science.gov (United States)

    Veitch, Andrew M; Vanbiervliet, Geoffroy; Gershlick, Anthony H; Boustiere, Christian; Baglin, Trevor P; Smith, Lesley-Ann; Radaelli, Franco; Knight, Evelyn; Gralnek, Ian M; Hassan, Cesare; Dumonceau, Jean-Marc

    2016-01-01

    The risk of endoscopy in patients on antithrombotics depends on the risks of procedural haemorrhage versus thrombosis due to discontinuation of therapy. P2Y12 receptor antagonists (clopidogrel, prasugrel, ticagrelor) For low-risk endoscopic procedures we recommend continuing P2Y12 receptor antagonists as single or dual antiplatelet therapy (low quality evidence, strong recommendation); For high-risk endoscopic procedures in patients at low thrombotic risk, we recommend discontinuing P2Y12 receptor antagonists five days before the procedure (moderate quality evidence, strong recommendation). In patients on dual antiplatelet therapy, we suggest continuing aspirin (low quality evidence, weak recommendation). For high-risk endoscopic procedures in patients at high thrombotic risk, we recommend continuing aspirin and liaising with a cardiologist about the risk/benefit of discontinuation of P2Y12 receptor antagonists (high quality evidence, strong recommendation). Warfarin The advice for warfarin is fundamentally unchanged from British Society of Gastroenterology (BSG) 2008 guidance. Direct Oral Anticoagulants (DOAC) For low-risk endoscopic procedures we suggest omitting the morning dose of DOAC on the day of the procedure (very low quality evidence, weak recommendation); For high-risk endoscopic procedures, we recommend that the last dose of DOAC be taken ≥48 h before the procedure (very low quality evidence, strong recommendation). For patients on dabigatran with CrCl (or estimated glomerular filtration rate, eGFR) of 30–50 mL/min we recommend that the last dose of DOAC be taken 72 h before the procedure (very low quality evidence, strong recommendation). In any patient with rapidly deteriorating renal function a haematologist should be consulted (low quality evidence, strong recommendation). PMID:26873868

  17. Health-Related Quality of Life in Locally Advanced Cervical Cancer Patients After Definitive Chemoradiation Therapy Including Image Guided Adaptive Brachytherapy: An Analysis From the EMBRACE Study

    DEFF Research Database (Denmark)

    Kirchheiner, Kathrin; Pötter, Richard; Tanderup, Kari

    2016-01-01

    Purpose This study analyzed functioning and symptom scores for longitudinal quality of life (QoL) from patients with locally advanced cervical cancer who underwent definitive chemoradiation therapy with image guided adaptive brachytherapy in the EMBRACE study. Methods and Materials In total, 744 ...

  18. Implementation and Evaluation of a Wiki Involving Multiple Stakeholders Including Patients in the Promotion of Best Practices in Trauma Care: The WikiTrauma Interrupted Time Series Protocol

    NARCIS (Netherlands)

    Archambault, P.M.; Turgeon, A.F.; Witteman, H.O.; Lauzier, F.; Moore, L.; Lamontagne, F.; Horsley, T.; Gagnon, M.P.; Droit, A.; Weiss, M.; Tremblay, S.; Lachaine, J.; Sage, N. Le; Emond, M.; Berthelot, S.; Plaisance, A.; Lapointe, J.; Razek, T.; Belt, T.H. van de; Brand, K; Berube, M.; Clement, J.; Iii, F.J. Grajales; Eysenbach, G.; Kuziemsky, C.; Friedman, D.; Lang, E.; Muscedere, J.; Rizoli, S.; Roberts, D.J.; Scales, D.C.; Sinuff, T.; Stelfox, H.T.; Gagnon, I.; Chabot, C.; Grenier, R.; Legare, F.

    2015-01-01

    BACKGROUND: Trauma is the most common cause of mortality among people between the ages of 1 and 45 years, costing Canadians 19.8 billion dollars a year (2004 data), yet half of all patients with major traumatic injuries do not receive evidence-based care, and significant regional variation in the qu

  19. A new staging system for locally advanced (pT3-4) renal cell carcinoma: a multicenter European study including 2,000 patients.

    NARCIS (Netherlands)

    Ficarra, V.; Galfano, A.; Guille, F.; Schips, L.; Tostain, J.; Mejean, A.; Lang, H.; Mulders, P.F.A.; Taille, A. De La; Chautard, D.; Descotes, J.L.; Cindolo, L.; Novara, G.; Rioux-Leclercq, N.; Zattoni, F.; Artibani, W.; Patard, J.J.

    2007-01-01

    PURPOSE: We provide an adequate prognostic stratification for locally advanced renal cell carcinoma and propose a new TNM classification. MATERIALS AND METHODS: We analyzed clinical and pathological data on a large series of patients undergoing radical nephrectomy for pT3-4 renal cell carcinoma at 1

  20. Implementation and Evaluation of a Wiki Involving Multiple Stakeholders Including Patients in the Promotion of Best Practices in Trauma Care: The WikiTrauma Interrupted Time Series Protocol

    NARCIS (Netherlands)

    Archambault, P.M.; Turgeon, A.F.; Witteman, H.O.; Lauzier, F.; Moore, L.; Lamontagne, F.; Horsley, T.; Gagnon, M.P.; Droit, A.; Weiss, M.; Tremblay, S.; Lachaine, J.; Sage, N. Le; Emond, M.; Berthelot, S.; Plaisance, A.; Lapointe, J.; Razek, T.; Belt, T.H. van de; Brand, K; Berube, M.; Clement, J.; Iii, F.J. Grajales; Eysenbach, G.; Kuziemsky, C.; Friedman, D.; Lang, E.; Muscedere, J.; Rizoli, S.; Roberts, D.J.; Scales, D.C.; Sinuff, T.; Stelfox, H.T.; Gagnon, I.; Chabot, C.; Grenier, R.; Legare, F.

    2015-01-01

    BACKGROUND: Trauma is the most common cause of mortality among people between the ages of 1 and 45 years, costing Canadians 19.8 billion dollars a year (2004 data), yet half of all patients with major traumatic injuries do not receive evidence-based care, and significant regional variation in the

  1. Guideline-recommended therapy, including beta-blocker utilization, in patients with chronic heart failure: results from a Canadian community hospital heart function clinic

    Directory of Open Access Journals (Sweden)

    Heffernan M

    2016-06-01

    Full Text Available Michael Heffernan Division of Cardiology, Oakville Trafalgar Memorial Hospital, Oakville, ON, Canada Abstract: A comprehensive analysis of beta-blocker utilization and other guideline-recommended therapies for the treatment of chronic heart failure in a Canadian community hospital heart function clinic has not been undertaken and was, therefore, the focus of this study. The proportion of patients who would be potential candidates for ivabridine and sacubitril–valsartan therapy as a result of fulfilling the criteria for enrollment in either the Systolic Heart failure treatment with the If inhibitor ivabradine Trial (SHIFT study (left-ventricular ejection fraction [LVEF] >35%, sinus rhythm, New York Heart Association II–IV or the Prospective Comparison of angiotensin receptor-neprilysin inhibitor (ARNI with angiotensin-converting enzyme inhibitor (ACEI to determine impact on global Mortality and Morbidity in Heart Failure (PARADIGM-HF study (LVEF <40%, New York Heart Association II–IV, glomerular filtration rate >30 mL/min, was also assessed. A retrospective cross-sectional analysis was carried out in all 371 patients treated in this community heart function clinic for at least a 12-month period. The patients were elderly (mean age 74±13.3 years and predominately male (61.5% with symptomatic (82.5% moderate left-ventricular dysfunction (LVEF 45.4%±15.6%. A substantial proportion of the patients also had a diagnosis of atrial fibrillation (52.8%. The total use of beta blockers exceeded 87%, while 100% of patients without a documented contraindication or intolerance to a beta blocker received therapy. Adherence to other guideline-recommended pharmacotherapies specifically for heart failure with reduced left ventricular ejection was high: 86.1% of the eligible patients were treated with an ACEI/angiotensin receptor blocker and 61.9% received a mineralcorticoid receptor antagonist. We determined that 13.7% of the complement of this heart

  2. Treatment outcome and prognostic factor analysis in transplant-eligible Chinese myeloma patients receiving bortezomib-based induction regimens including the staged approach, PAD or VTD

    Directory of Open Access Journals (Sweden)

    Chim Chor

    2012-06-01

    Full Text Available Abstract Background We have reported promising outcomes using a staged approach, in which bortezomib/thalidomide/dexamethasone was used only in 14 patients with suboptimal response to VAD (vincristine/adriamycin/dexamethasone before autologous stem cell transplantation (ASCT. Here we compared the outcomes of the staged approach with frontline PAD (bortezomib/doxorubicin/dexamethasone or VTD (bortezomib/thalidomide/dexamethasone induction, and analysed prognostic factors for outcome. Patients and methods Ninety-one transplant-eligible Chinese patients received three induction regimens prior to ASCT [staged approach (N = 25, PAD (N = 31, VTD (N = 35]. and received thalidomide maintenance for 2 years post-ASCT. Results 43 (47.3% patients had International Staging System (ISS III disease. By an intention-to-treat analysis, the overall CR/nCR rate were 37.4% post-induction, and 62.6% post-ASCT. Five-year overall (OS and event-free (EFS survivals were 66% and 45.1%. There was no difference of the post-induction CR/nCR rate, EFS or OS between patients induced by these three regimens. Moreover, ISS III disease did not affect CR/nCR rates. Multivariate analysis showed that ISS and post-ASCT CR/nCR impacted OS while ISS and post-induction CR/nCR impacted EFS. Conclusions These three induction regimens produced comparable and favorable outcomes in myeloma. The unfavorable outcome of ISS stage III persisted despite upfront/early use of bortezomib. CR/nCR predicted favorable survivals.

  3. Pentane and other volatile organic compounds, including carboxylic acids, in the exhaled breath of patients with Crohn's disease and ulcerative colitis.

    Science.gov (United States)

    Dryahina, Kseniya; Smith, David; Bortlík, Martin; Machková, Naděžda; Lukáš, Milan; Spanel, Patrik

    2017-08-07

    A study has been carried out of the volatile organic compounds (VOCs) in the exhaled breath of patients suffering from inflammatory bowel disease (IBD), comprising 136 with Crohn's disease (CD) and 51 with ulcerative colitis (UC), together with a cohort of 14 healthy persons as controls. Breath samples were collected by requesting the patients to inflate Nalophan bags which were then quantitatively analysed using selected ion flow tube mass spectrometry, SIFT-MS. Initially, the focus was on n-pentane that had previously been quantified in single exhalations by on line to SIFT-MS for smaller cohorts of IBD patients. It was seen that the median concentration of pentane was elevated in the bag breath samples of the IBD patients compared to those of the healthy controls, in accordance with the previous study. However, the absolute median pentane concentrations in the bag samples were about a factor of two lower than those in the directly analysed single exhalations, well illustrating the dilution of VOCs in samples of breath collected into bags. Accounting for this dilution effect, the concentrations of the common breath VOCs ethanol, propanol, acetone and isoprene were largely as expected for healthy controls. The concentrations of the much less frequently measured hydrogen sulphide, acetic acid, propanoic acid and butanoic acid were seen to be more widely spread in the exhaled breath of the IBD patients compared to those for the healthy controls. The relative concentrations of pentane and these other VOCs weakly correlate with simple clinical activity indices. It is speculated that, potentially, hydrogen sulphide and these carboxylic acids could be exhaled breath biomarker of intestinal bacterial overgrowth, which could assist therapeutic intervention and thus alleviate the symptoms of IBD. © 2017 IOP Publishing Ltd.

  4. Usability of a novel disposable autoinjector device for ixekizumab: results from a qualitative study and an open-label clinical trial, including patient-reported experience

    Science.gov (United States)

    Callis Duffin, Kristina; Bukhalo, Michael; Bobonich, Margaret A; Shrom, David; Zhao, Fangyi; Kershner, James R; Gill, Anne; Pangallo, Beth; Shuler, Catherine L; Bagel, Jerry

    2016-01-01

    Background Most biologic therapies for psoriasis are delivered via subcutaneous injection. Ixekizumab, an anti-interleukin 17A monoclonal antibody approved for patients with moderate-to-severe plaque psoriasis, is delivered subcutaneously via prefilled syringe or autoinjector. Here we report the results of an ixekizumab autoinjector usability study as well as the patient-reported experience with the autoinjector in a clinical trial. Methods The usability study enrolled 49 subjects (patients with a range of autoimmune conditions or their caregivers). Subjects were randomized to a trained or untrained group and were evaluated for their ability to perform an injection successfully when provided the device and the instructions for use. In the clinical trial, 102 subjects (patients with psoriasis or their caregivers) used the autoinjector to deliver injections of ixekizumab (80 mg every 2 weeks after a starting dose of 160 mg). At weeks 0, 4, and 8, subjects completed the subcutaneous administration assessment questionnaire, which assesses the ease of use and confidence with using an injection device. Results In the usability study, all subjects in the untrained arm performed successful injections, while two subjects in the trained arm had an injection failure. These incidences were not consistent with any pattern of issues with the device or the instructions for use. In the clinical trial, there were two injection failures of 674 total self-injections performed over 12 weeks. At the first use of the device, 95% of subjects either agreed or strongly agreed that the device was “overall easy to use”, and they felt “confident the dose was complete” according to the subcutaneous administration assessment questionnaire. Conclusion The ixekizumab autoinjector was used successfully by patients and caregivers with or without training. Subjects using the autoinjector in a clinical trial felt it was easy to use and felt confident while using it. PMID:27785115

  5. MODIFIED DISEASE-ACTIVITY SCORES THAT INCLUDE 28-JOINT COUNTS - DEVELOPMENT AND VALIDATION IN A PROSPECTIVE LONGITUDINAL-STUDY OF PATIENTS WITH RHEUMATOID-ARTHRITIS

    NARCIS (Netherlands)

    PREVOO, MLL; VANTHOF, MA; KUPER, HH; VANLEEUWEN, MA; VANDEPUTTE, LBA; VANRIEL, PLCM

    1995-01-01

    Objective. The development and validation of Modified Disease Activity Scores (DAS) the include different 28-joint counts. Methods. These scores were developed by canonical discriminant analyses and validated for criterion, correlational, and construct validity. The influence of disease duration on

  6. Voxel-based evidence of perfusion normalization in glioblastoma patients included in a phase I-II trial of radiotherapy/tipifarnib combination.

    Science.gov (United States)

    Ken, Soléakhéna; Deviers, Alexandra; Filleron, Thomas; Catalaa, Isabelle; Lotterie, Jean-Albert; Khalifa, Jonathan; Lubrano, Vincent; Berry, Isabelle; Péran, Patrice; Celsis, Pierre; Moyal, Elizabeth Cohen-Jonathan; Laprie, Anne

    2015-09-01

    We previously showed that the farnesyl transferase inihibitor, Tipifarnib induced vascularization normalization, oxygenation and radiosensitization in a pre-clinical glioblastoma (GBM) model. The aim of this study was to assess by dynamic-susceptibility-contrast MRI (DSC-MRI) the effect of radiotherapy (RT) and Tipifarnib combination on tumor perfusion in GBM patients. Eighteen patients with newly diagnosed GBM, enrolled in a phase I-II clinical trial associating RT with Tipifarnib, underwent anatomical MR imaging and DSC-MRI before (M0) and two months after treatment (M2). Anatomic volumes of interest (VOIs) were delineated according to contrast-enhanced and hyper-intense signal areas on T1-Gd and T2 images, respectively. Perfusion variations between M0 and M2 were assessed with median relative cerebral blood volume (rCBV) inside these VOIs. Another voxel by voxel analysis of CBV values classified 405,117 tumor voxels into High_, Normal_ and Low_CBVTUMOR according to the distribution of CBV in the contralateral normal tissue. These three categories of CBVTUMOR voxels were color-coded over anatomical MRI. Variations of median rCBV were significantly different for two groups of patients (P  1) and rCBV increased when initial rCBV was color-coded voxels provided additional spatial and quantitative information about tumor perfusion: Group_rCBV_M0 > 1 presented a significant decrease of High_CBVTUMOR volume (P = 0.015) simultaneously with a significant increase of Normal_CBVTUMOR volume (P = 0.009) after treatment. Group_rCBV_M0 perfusion evolution in GBM patients treated with RT combined to Tipifarnib; showing variations in favour of tumor perfusion normalization in agreement with our pre-clinical results of vascular normalization.

  7. Pain in patients with multiple sclerosis: a complex assessment including quantitative and qualitative measurements provides for a disease-related biopsychosocial pain model

    Directory of Open Access Journals (Sweden)

    Michalski D

    2011-08-01

    Full Text Available Dominik Michalski1,*, Stefanie Liebig1,*, Eva Thomae1,2, Andreas Hinz3, Florian Then Bergh1,21Department of Neurology, 2Translational Centre for Regenerative Medicine (TRM, 3Department of Medical Psychology and Medical Sociology, University of Leipzig, Leipzig, Germany *These authors contributed equallyBackground: Pain of various causes is a common phenomenon in patients with Multiple Sclerosis (MS. A biopsychosocial perspective has proven a useful theoretical construct in other chronic pain conditions and was also started in MS. To support such an approach, we aimed to investigate pain in MS with special emphasis on separating quantitative and qualitative aspects, and its interrelation to behavioral and physical aspects.Materials and methods: Pain intensity (NRS and quality (SES were measured in 38 consecutive outpatients with MS (mean age, 42.0 ± 11.5 years, 82% women. Pain-related behavior (FSR, health care utilization, bodily complaints (GBB-24 and fatigue (WEIMuS were assessed by questionnaires, and MS-related neurological impairment by a standardized neurological examination (EDSS.Results: Mean pain intensity was 4.0 (range, 0–10 and mean EDSS 3.7 (range, 0–8 in the overall sample. Currently present pain was reported by 81.6% of all patients. Disease duration and EDSS did not differ between patients with and without pain and were not correlated to quality or intensity of pain. Patients with pain had significantly higher scores of musculoskeletal complaints, but equal scores of exhaustion, gastrointestinal and cardiovascular complaints. Pain intensity correlated only with physical aspects, whereas quality of pain was additionally associated with increased avoidance, resignation and cognitive fatigue.Conclusion: As in other conditions, pain in MS must be assessed in a multidimensional way. Further research should be devoted to adapt existing models to a MS-specific model of pain.Keywords: pain intensity, quality of pain, pain

  8. Efficacy and safety of indacaterol 150 and 300 µg in chronic obstructive pulmonary disease patients from six Asian areas including Japan: a 12-week, placebo-controlled study.

    Science.gov (United States)

    Kinoshita, Masaharu; Lee, Sang Haak; Hang, Liang-Wen; Ichinose, Masakazu; Hosoe, Motoi; Okino, Naoko; Prasad, Niyati; Kramer, Benjamin; Fukuchi, Yoshinosuke

    2012-02-01

    The efficacy and safety of indacaterol, a novel inhaled once daily ultra long-acting β(2) -agonist was evaluated in COPD patients in six Asian countries/areas. This study was primarily designed to obtain the regulatory approval of indacaterol in Japan. Moderate-to-severe COPD patients were randomized to indacaterol 150 µg, indacaterol 300 µg or placebo once daily. Efficacy variables: trough FEV(1) (average of 23 h 10 min and 23 h 45 min post-dose values), health status (St. George's Respiratory Questionnaire) and transition dyspnoea index at week 12. Safety/tolerability was evaluated. A total of 347 patients were randomized (96.5% male, mean (SD) age 66.7 (8.38) years, post-bronchodilator FEV(1) % predicted: 53.7 (12.50)); 88.8% completed. The least squares means (LSM) trough FEV(1) at week 12 for indacaterol 150 µg, indacaterol 300 µg and placebo were 1.34 L, 1.37 L and 1.17 L, respectively, with differences versus placebo exceeding the prespecified minimal clinically important difference of 0.12 L (0.17 L and 0.20 L for indacaterol 150 µg and 300 µg, respectively, both P indacaterol doses versus placebo (differences of 1.30 and 1.26, P indacaterol doses provided statistically significant (P ≤ 0.005) and clinically meaningful (≥4 units) improvements in LSM St. George's Respiratory Questionnaire total score versus placebo (differences: -4.8 and -5.7 units). Adverse events for indacaterol (49.1%, both doses) were lower than placebo (59.0%) and were mostly mild/moderate in severity; no deaths were reported. Indacaterol provided clinically significant bronchodilation and improvements in dyspnoea and health status in Asian COPD patients. © 2011 Novartis Pharma AG (Basel, Switzerland).

  9. Disease-related and psychosocial factors associated with depressive symptoms in patients with systemic sclerosis, including fear of progression and appearance self-esteem.

    Science.gov (United States)

    Kwakkenbos, Linda; van Lankveld, Wim G J M; Vonk, Madelon C; Becker, Eni S; van den Hoogen, Frank H J; van den Ende, Cornelia H M

    2012-03-01

    The prevalence of depressive symptoms is high in patients with systemic sclerosis (SSc, scleroderma). This study was conducted to determine which disease-related and psychosocial factors are associated with depressive symptoms, independent of sociodemographic factors. In total, 215 patients with SSc completed questionnaires on sociodemographics, physical functioning (HAQ-DI), pain (VAS), fatigue (CIS), psychosocial characteristics (CISS, ICQ, PRQ, ASE, FoP-Q-SF) and depressive symptoms (CES-D). Disease characteristics (disease duration, disease subtype, modified Rodnan Skin Score) were collected. Hierarchical linear regression analyses were conducted to assess associations with depressive symptoms. The mean CES-D score was 12.9 (SD=9.7) and the prevalence of patients scoring>= 16 and>=19 were 32.1% and 25.1%, respectively. The variance explained by sociodemographics and disease characteristics was negligible (R(2)≤.09). Fatigue and pain were independently associated with depressive symptoms (R(2) change=.35). After adding psychological factors (R(2) change=.21), satisfaction with social support, emotion-focused coping and helplessness were also significantly associated with depressive symptoms. Higher fear of progression was associated with more depressive symptoms (P≤.01), and appearance self-esteem showed a marginally significant association (P=.08). Depressive symptoms were common in the present sample of patients with SSc and were independently associated with pain, fatigue, social support, emotion-focused coping, helplessness and fear of progression. Results suggest that, in addition to assessment of disease characteristics, attention should be given also to psychosocial factors found to be associated with depressive symptoms. For the development and trialling of psychological interventions, fear of progression could be an important target. Copyright © 2011 Elsevier Inc. All rights reserved.

  10. [Pathogenetic ground of including reamberin and cycloferon combination into the therapy program for patients with severe cases of acute tonsillitis of a mixed viral/bacterial etiology].

    Science.gov (United States)

    Frolov, V M; Peresadin, N A; Tereshin, V A; Chkhetiani, R B; Kruglova, O V

    2012-03-01

    The increase of severe cases of acute tonsillitis (AT) is presently marked. Severe cases of AT disturb immune and metabolic homoeostasis initiating the development of disease. Therapy optimization is required to select the best treatment. In patients with severe cases of AT of mixed viral/bacterial etiology before the treatment it is revealed the increase of general activity of lactatedehydrigenase (LDH) and increase of the level of cathode "anaerobic" factions LDH4+5 and the decline of concentration ATP in the blood. There was a compensatory rise of level of ADP and АМP. The substantial decline of serum interferon (CIF) activity and diminishing maintenance of α-interferon (α-IFN) and γ-interferon (γ-IFN) in the blood of the patients, that testified to oppressing of interferonogenesis. Treatment of severe cases of AT of mixed viral/bacterial etiology of modern detoxic preparation reamberin and immunoactive preparation cycloferon combination positively influences the studied laboratory indexes. The improvement of power metabolism is marked, that was characterized by normalization of level adenine nucleotides (ATP, АDP, АМP) and general activity of LDH and its izoenzimes spectrum. At the same time the increase of CIF level is set, maintenances α-IFN and γ-IFN in the blood, that testified to the improvement of interferonogenesis. The results demonstrate the therapeutic potential of reamberin and cycloferon combination for treatment of patients with AT of mixed viral/bacterial etiology.

  11. Proteome profiles of HDL particles of patients with chronic heart failure are associated with immune response and also include bacteria proteins.

    Science.gov (United States)

    Oberbach, Andreas; Adams, Volker; Schlichting, Nadine; Heinrich, Marco; Kullnick, Yvonne; Lehmann, Stefanie; Lehmann, Sven; Feder, Stefan; Correia, Joao Carlos; Mohr, Friedrich-Wilhelm; Völker, Uwe; Jehmlich, Nico

    2016-01-30

    Besides modulation of reverse cholesterol transport, high density lipoprotein (HDL) is able to modulate vascular function by stimulating endothelial nitric oxide synthase. Recently, it could be documented that this function of HDL was significantly impaired in patients with chronic heart failure (CHF). We investigated alterations in the HDL proteome in CHF patients. Therefore, HDL was isolated from 5 controls (HDLhealthy) and 5 CHF patients of NYHA-class IIIb (HDLCHF). Proteome analysis of HDL particles was performed by two-dimensional liquid chromatography-mass spectrometry (SCX/RP LC-MS/MS). In total, we identified 494 distinct proteins, of which 107 proteins were commonly found in both groups (HDLCHF and HDLhealthy) indicating a high inter-subject variability across HDL particles. Several important proteins (e.g. ITGA2, APBA1 or A2M) varied in level. Functional analysis revealed regulated pathways. A minor proportion of bacteria-derived proteins were also identified in the HDL-particles. The extension of the list of HDL-associated proteins allows besides their mere description new insights into alterations in HDL function in diseases. In addition, the detection of bacterial proteins bound to HDL will broaden our view of HDL not only as a cholesterol carrier but also as a carrier of proteins.

  12. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

    Science.gov (United States)

    Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary-Alice; Atkin, Joan; Babovic-Vuksanovic, Dusica; Barnett, Christopher P; Crenshaw, Melissa; Bartholomew, Dennis W; Basel, Lina; Bellus, Gary; Ben-Shachar, Shay; Bialer, Martin G; Bick, David; Blumberg, Bruce; Cortes, Fanny; David, Karen L; Destree, Anne; Duat-Rodriguez, Anna; Earl, Dawn; Escobar, Luis; Eswara, Marthanda; Ezquieta, Begona; Frayling, Ian M; Frydman, Moshe; Gardner, Kathy; Gripp, Karen W; Hernández-Chico, Concepcion; Heyrman, Kurt; Ibrahim, Jennifer; Janssens, Sandra; Keena, Beth A; Llano-Rivas, Isabel; Leppig, Kathy; McDonald, Marie; Misra, Vinod K; Mulbury, Jennifer; Narayanan, Vinodh; Orenstein, Naama; Galvin-Parton, Patricia; Pedro, Helio; Pivnick, Eniko K; Powell, Cynthia M; Randolph, Linda; Raskin, Salmo; Rosell, Jordi; Rubin, Karol; Seashore, Margretta; Schaaf, Christian P; Scheuerle, Angela; Schultz, Meredith; Schorry, Elizabeth; Schnur, Rhonda; Siqveland, Elizabeth; Tkachuk, Amanda; Tonsgard, James; Upadhyaya, Meena; Verma, Ishwar C; Wallace, Stephanie; Williams, Charles; Zackai, Elaine; Zonana, Jonathan; Lazaro, Conxi; Claes, Kathleen; Korf, Bruce; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine

    2015-11-01

    Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype-phenotype correlations is challenging because of the wide range clinical variability, the progressive nature of the disorder, and extreme diversity of the mutational spectrum. We report 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809. Patients presented with multiple café-au-lait macules (CALM) with or without freckling and Lisch nodules, but no externally visible plexiform neurofibromas or clear cutaneous neurofibromas were found. About 25% of the individuals had Noonan-like features. Pulmonic stenosis and short stature were significantly more prevalent compared with classic cohorts (P NF1-patient showed two different somatic NF1 mutations, p.Arg1809Cys and a multi-exon deletion, providing genetic evidence that p.Arg1809Cys is a loss-of-function mutation in the melanocytes and causes a pigmentary phenotype. Constitutional missense mutations at p.Arg1809 affect 1.23% of unrelated NF1 probands in the UAB cohort, therefore this specific NF1 genotype-phenotype correlation will affect counseling and management of a significant number of patients.

  13. Usability of a novel disposable autoinjector device for ixekizumab: results from a qualitative study and an open-label clinical trial, including patient-reported experience

    Directory of Open Access Journals (Sweden)

    Callis Duffin K

    2016-10-01

    Full Text Available Kristina Callis Duffin,1 Michael Bukhalo,2 Margaret A Bobonich,3 David Shrom,4 Fangyi Zhao,4 James R Kershner,4 Anne Gill,4 Beth Pangallo,4 Catherine L Shuler,4 Jerry Bagel5 1Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT, 2Arlington Dermatology, Arlington Heights, IL, 3CWRU Schools of Medicine and Nursing, Case Western Reserve University Cleveland, OH, 4Lilly Research Labs, Eli Lilly and Company, Lilly Corporate Center, Indianapolis, IN, 5Psoriasis Treatment Center of Central New Jersey, East Windsor, NJ, USA Background: Most biologic therapies for psoriasis are delivered via subcutaneous injection. Ixekizumab, an anti-interleukin 17A monoclonal antibody approved for patients with moderate-to-severe plaque psoriasis, is delivered subcutaneously via prefilled syringe or autoinjector. Here we report the results of an ixekizumab autoinjector usability study as well as the patient-reported experience with the autoinjector in a clinical trial. Methods: The usability study enrolled 49 subjects (patients with a range of autoimmune conditions or their caregivers. Subjects were randomized to a trained or untrained group and were evaluated for their ability to perform an injection successfully when provided the device and the instructions for use. In the clinical trial, 102 subjects (patients with psoriasis or their caregivers used the autoinjector to deliver injections of ixekizumab (80 mg every 2 weeks after a starting dose of 160 mg. At weeks 0, 4, and 8, subjects completed the subcutaneous administration assessment questionnaire, which assesses the ease of use and confidence with using an injection device. Results: In the usability study, all subjects in the untrained arm performed successful injections, while two subjects in the trained arm had an injection failure. These incidences were not consistent with any pattern of issues with the device or the instructions for use. In the clinical trial, there were two

  14. Parenteral nutrition including an omega-3 fatty-acid-containing lipid emulsion for intensive care patients in China: a pharmacoeconomic analysis

    Directory of Open Access Journals (Sweden)

    Feng Y

    2017-09-01

    Full Text Available Yufei Feng,1 Chao Li,1 Tian Zhang,1 Lorenzo Pradelli2 1Department of Pharmacy, Beijing Hospital, National Center of Gerontology, Beijing, People’s Republic of China; 2AdRes Health Economics and Outcomes Research, Piazza Carlo Emanuele II, Torino, Italy Background/objectives: Parenteral nutrition (PN incorporating omega-3 fatty-acid-enriched lipid emulsions has been shown to be cost effective in Western populations. A pharmacoeconomic evaluation was performed within the Chinese intensive care unit (ICU setting. This assessed whether the additional acquisition cost of PN with omega-3 fatty-acid-enriched lipid emulsion (SMOFlipid vs standard PN was offset by improved clinical outcomes that can reduce subsequent costs. Materials and methods: A pharmacoeconomic discrete event simulation model was developed, based on an update to efficacy data from a previous international meta-analysis, with China-specific clinical and economic input parameters. Sensitivity analyses were undertaken to assess the effects of uncertainty around input parameters. Results: The model predicted that PN with an omega-3 fatty-acid-enriched lipid emulsion was more effective and less costly than PN with standard lipid emulsions for Chinese ICU patients, as follows: reduced length of overall hospital length of stay (19.48 vs 21.35 days, respectively, reduced length of ICU stay (5.03 vs 6.18 days, respectively, and prevention of 35.6% of nosocomial infections leading to a lower total cost per patient (¥47 189 [US $6937] vs ¥54 783 [US $8053], respectively. Additional treatment costs were offset by savings in overall hospital and ICU stay cost, and antibiotic cost, resulting in a mean cost saving of ¥7594 (US $1116 per patient. Sensitivity analyses confirmed the robustness of these findings. Conclusions: PN enriched with an omega-3 fatty-acid-containing lipid emulsion vs standard PN may be effective in reducing length of hospital and ICU stay and infectious complications in

  15. Vitamin D receptor signaling improves Hutchinson-Gilford progeria syndrome cellular phenotypes.

    Science.gov (United States)

    Kreienkamp, Ray; Croke, Monica; Neumann, Martin A; Bedia-Diaz, Gonzalo; Graziano, Simona; Dusso, Adriana; Dorsett, Dale; Carlberg, Carsten; Gonzalo, Susana

    2016-05-24

    Hutchinson-Gilford Progeria Syndrome (HGPS) is a devastating incurable premature aging disease caused by accumulation of progerin, a toxic lamin A mutant protein. HGPS patient-derived cells exhibit nuclear morphological abnormalities, altered signaling pathways, genomic instability, and premature senescence. Here we uncover new molecular mechanisms contributing to cellular decline in progeria. We demonstrate that HGPS cells reduce expression of vitamin D receptor (VDR) and DNA repair factors BRCA1 and 53BP1 with progerin accumulation, and that reconstituting VDR signaling via 1α,25-dihydroxyvitamin D3 (1,25D) treatment improves HGPS phenotypes, including nuclear morphological abnormalities, DNA repair defects, and premature senescence. Importantly, we discovered that the 1,25D/VDR axis regulates LMNA gene expression, as well as expression of DNA repair factors. 1,25D dramatically reduces progerin production in HGPS cells, while stabilizing BRCA1 and 53BP1, two key factors for genome integrity. Vitamin D/VDR axis emerges as a new target for treatment of HGPS and potentially other lamin-related diseases exhibiting VDR deficiency and genomic instability. Because progerin expression increases with age, maintaining vitamin D/VDR signaling could keep the levels of progerin in check during physiological aging.

  16. Transgene silencing of the Hutchinson-Gilford progeria syndrome mutation results in a reversible bone phenotype, whereas resveratrol treatment does not show overall beneficial effects.

    Science.gov (United States)

    Strandgren, Charlotte; Nasser, Hasina Abdul; McKenna, Tomás; Koskela, Antti; Tuukkanen, Juha; Ohlsson, Claes; Rozell, Björn; Eriksson, Maria

    2015-08-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder that is most commonly caused by a de novo point mutation in exon 11 of the LMNA gene, c.1824C>T, which results in an increased production of a truncated form of lamin A known as progerin. In this study, we used a mouse model to study the possibility of recovering from HGPS bone disease upon silencing of the HGPS mutation, and the potential benefits from treatment with resveratrol. We show that complete silencing of the transgenic expression of progerin normalized bone morphology and mineralization already after 7 weeks. The improvements included lower frequencies of rib fractures and callus formation, an increased number of osteocytes in remodeled bone, and normalized dentinogenesis. The beneficial effects from resveratrol treatment were less significant and to a large extent similar to mice treated with sucrose alone. However, the reversal of the dental phenotype of overgrown and laterally displaced lower incisors in HGPS mice could be attributed to resveratrol. Our results indicate that the HGPS bone defects were reversible upon suppressed transgenic expression and suggest that treatments targeting aberrant progerin splicing give hope to patients who are affected by HGPS.

  17. Detection of Bartonella henselae DNA in clinical samples including peripheral blood of immune competent and immune compromised patients by three nested amplifications

    Directory of Open Access Journals (Sweden)

    Karina Hatamoto Kawasato

    2013-02-01

    Full Text Available Bacteria of the genus Bartonella are emerging pathogens detected in lymph node biopsies and aspirates probably caused by increased concentration of bacteria. Twenty-three samples of 18 patients with clinical, laboratory and/or epidemiological data suggesting bartonellosis were subjected to three nested amplifications targeting a fragment of the 60-kDa heat shock protein (HSP, the internal transcribed spacer 16S-23S rRNA (ITS and the cell division (FtsZ of Bartonella henselae, in order to improve detection in clinical samples. In the first amplification 01, 04 and 05 samples, were positive by HSP (4.3%, FtsZ (17.4% and ITS (21.7%, respectively. After the second round six positive samples were identified by nested-HSP (26%, eight by nested-ITS (34.8% and 18 by nested-FtsZ (78.2%, corresponding to 10 peripheral blood samples, five lymph node biopsies, two skin biopsies and one lymph node aspirate. The nested-FtsZ was more sensitive than nested-HSP and nested-ITS (p < 0.0001, enabling the detection of Bartonella henselae DNA in 15 of 18 patients (83.3%. In this study, three nested-PCR that should be specific for Bartonella henselae amplification were developed, but only the nested-FtsZ did not amplify DNA from Bartonella quintana. We conclude that nested amplifications increased detection of B. henselae DNA, and that the nested-FtsZ was the most sensitive and the only specific to B. henselae in different biological samples. As all samples detected by nested-HSP and nested-ITS, were also by nested-FtsZ, we infer that in our series infections were caused by Bartonella henselae. The high number of positive blood samples draws attention to the use of this biological material in the investigation of bartonellosis, regardless of the immune status of patients. This fact is important in the case of critically ill patients and young children to avoid more invasive procedures such as lymph nodes biopsies and aspirates.

  18. Comparative efficacy and safety of the left versus right radial approach for percutaneous coronary procedures: a meta-analysis including 6870 patients.

    Science.gov (United States)

    Xia, S L; Zhang, X B; Zhou, J S; Gao, X

    2015-08-01

    The radial approach is widely used in the treatment of patients with coronary artery disease. We conducted a meta-analysis of published results on the efficacy and safety of the left and right radial approaches in patients undergoing percutaneous coronary procedures. A systematic search of reference databases was conducted, and data from 14 randomized controlled trials involving 6870 participants were analyzed. The left radial approach was associated with significant reductions in fluoroscopy time [standardized mean difference (SMD)=-0.14, 95% confidence interval (CI)=-0.19 to -0.09; Pprocedural failure of the left and the right radial approaches [risk ratios (RR)=0.98; 95%CI=0.77-1.25; P=0.88] or procedural time (SMD=-0.05, 95%CI=0.17-0.06; P=0.38). Tortuosity of the subclavian artery (RR=0.27, 95%CI=0.14-0.50; Pright radial approach. A greater number of catheters were used with the left than with the right radial approach (SMD=0.25, 95%CI=0.04-0.46; P=0.02). We conclude that the left radial approach is as safe as the right radial approach, and that the left radial approach should be recommended for use in percutaneous coronary procedures, especially in percutaneous coronary angiograms.

  19. Real-world Experience with Sofosbuvir-based Regimens for Chronic Hepatitis C, Including Patients with Factors Previously Associated with Inferior Treatment Response.

    Science.gov (United States)

    Wu, Christina J; Roytman, Marina M; Hong, Leena K; Huddleston, Leslie; Trujillo, Ruby; Cheung, Alvin; Poerzgen, Peter; Tsai, Naoky C S

    2015-09-01

    The introduction of sofosbuvir, a direct acting antiviral, has revolutionized the treatment of chronic hepatitis C virus (HCV). Phase 3 clinical trials have demonstrated the efficacy, simplicity, and tolerability of sofosbuvir-based regimens and report high rates of sustained virological response (SVR) rates. The purpose of this study was to assess whether clinical trial findings translate into a real-world setting, particularly with treatment of chronic HCV in our diverse, multiethnic population of Hawai'i. Retrospective analysis was performed for 113 patients with genotype 1-6 HCV infection being treated at the Queen's Liver Center between January 2014 and March 2015. SVR rates for our cohort were slightly lower than the rates published by the clinical trials. Data analysis also suggested that most baseline characteristics previously associated with inferior response might not be as significant for sofosbuvir-based regimens; in our cohort, male gender was the only factor significantly related to increased risk of virologic relapse. Pacific Islanders also had higher rate of relapse compared to other ethnic groups, but the small number of patients treated in this subgroup make it difficult to validate this finding. While newer all-oral treatment regimens have been introduced since this study, we highlight the importance of comparing real-world versus clinical trial results for new treatments, and provide data analyses for treatment of chronic HCV in Hawai'i.

  20. Pseudomonas aeruginosa isolates from dental unit waterlines can be divided in two distinct groups, including one displaying phenotypes similar to isolates from cystic fibrosis patients

    Directory of Open Access Journals (Sweden)

    Myriam eOuellet

    2015-01-01

    Full Text Available Pseudomonas aeruginosa displays broad genetic diversity, giving it an astonishing capacity to adapt to a variety of environments and to infect a wide range of hosts. While many P. aeruginosa isolates of various origins have been analyzed, isolates from cystic fibrosis patients have received the most attention. Less is known about the genetic and phenotypic diversity of P. aeruginosa isolates that colonize other environments where flourishing biofilms can be found. In the present study, 29 P. aeruginosa isolates from dental unit waterlines and cystic fibrosis patients were collected and their genetic and phenotypes profiles were compared to determine whether environmental and clinical isolates are related. The isolates were first classified using the random amplified polymorphic DNA (RAPD method. This made it possible to distribute the isolates into one clinical cluster and two environmental clusters. The isolates in the environmental cluster that were genetically closer to the clinical cluster also displayed phenotypes similar to the clinical isolates. The isolates from the second environmental cluster displayed opposite phenotypes, particularly an increased capacity to form biofilms. The isolates in this cluster were also the only ones harboring genes that encoded specific epimerases involved in the synthesis of lipopolysaccharides, which could explain their increased ability to form biofilms. In conclusion, the isolates from the dental unit waterlines could be distributed into two clusters, with some of the environmental isolates resembled the clinical isolates.

  1. Partial duplication of 18q including a distal critical region for Edwards Syndrome in a patient with normal phenotype and oligoasthenospermia: case report.

    Science.gov (United States)

    Quiroga, R; Monfort, S; Oltra, S; Ferrer-Bolufer, I; Roselló, M; Mayo, S; Martinez, F; Orellana, C

    2011-01-01

    Several authors have attempted to construct a phenotype map for duplications of different portions of chromosome 18 to identify a possible critical region (CR) for Edwards Syndrome. Partial duplications of 18q have been reported in the literature involving the distal CR in patients with some clinical features of Edwards Syndrome. Here, we describe a phenotypically normal male with a large duplication on chromosome 18 that involves the proposed distal CR. The lack of clinical features is remarkable, except for pathological semen analysis, which suggests that terminal 17.4 Mb of 18q do not contain the Edwards Syndrome CR. Alternatively, unknown modifier factors or undetected somatic mosaicism might cause incomplete penetrance of this duplication.

  2. The effects of assertive community treatment including integrated dual diagnosis treatment on nuisance acts and crimes in dual-diagnosis patients.

    Science.gov (United States)

    Staring, A B P; Blaauw, E; Mulder, C L

    2012-04-01

    We investigated whether Assertive Community Treatment (ACT) combined with Integrated Dual Diagnosis Treatment (IDDT) is associated with a decrease in nuisance acts and crime convictions in dual-diagnosis repeated offenders. Forty-three patients were monitored from 21 months before until 12 months after the start of ACT-IDDT, using police data and the Health of the Nation Outcome Scales (HoNOS). Results show that while nuisance acts and convictions increased in the 21 months before the start of ACT-IDDT, nuisance acts decreased and convictions stabilized during the next 12 months. The decrease in nuisance acts was associated with a decrease in substance abuse.

  3. Comparative efficacy and safety of the left versus right radial approach for percutaneous coronary procedures: a meta-analysis including 6870 patients

    Directory of Open Access Journals (Sweden)

    S.L. Xia

    2015-08-01

    Full Text Available The radial approach is widely used in the treatment of patients with coronary artery disease. We conducted a meta-analysis of published results on the efficacy and safety of the left and right radial approaches in patients undergoing percutaneous coronary procedures. A systematic search of reference databases was conducted, and data from 14 randomized controlled trials involving 6870 participants were analyzed. The left radial approach was associated with significant reductions in fluoroscopy time [standardized mean difference (SMD=-0.14, 95% confidence interval (CI=-0.19 to -0.09; P<0.00001] and contrast volume (SMD=-0.07, 95%CI=-0.12 to -0.02; P=0.009. There were no significant differences in rate of procedural failure of the left and the right radial approaches [risk ratios (RR=0.98; 95%CI=0.77-1.25; P=0.88] or procedural time (SMD=-0.05, 95%CI=0.17-0.06; P=0.38. Tortuosity of the subclavian artery (RR=0.27, 95%CI=0.14-0.50; P<0.0001 was reported more frequently with the right radial approach. A greater number of catheters were used with the left than with the right radial approach (SMD=0.25, 95%CI=0.04-0.46; P=0.02. We conclude that the left radial approach is as safe as the right radial approach, and that the left radial approach should be recommended for use in percutaneous coronary procedures, especially in percutaneous coronary angiograms.

  4. Association between functional performance and executive cognitive functions in an elderly population including patients with low ankle–brachial index

    Directory of Open Access Journals (Sweden)

    Ferreira NV

    2015-05-01

    Full Text Available Naomi Vidal Ferreira,1 Paulo Jannuzzi Cunha,2 Danielle Irigoyen da Costa,3 Fernando dos Santos,1 Fernando Oliveira Costa,1 Fernanda Consolim-Colombo,4 Maria Cláudia Irigoyen1 1Heart Institute, Medical School, Universidade de São Paulo, São Paulo, SP, Brazil; 2Neuroimaging in Psychiatry Laboratory, Department of Psychiatry, Medical School, Universidade de São Paulo, São Paulo, SP, Brazil; 3Rio Grande do Sul Cardiology Institute, Fundação Universitária de Cardiologia, Porto Alegre, RS, Brazil; 4Medical School, Universidade Nove de Julho, São Paulo, SP, Brazil Introduction: Peripheral arterial disease, as measured by the ankle–brachial index (ABI, is prevalent among the elderly, and is associated with functional performance, assessed by the 6-minute walk test (6MWT. Executive cognitive function (ECF impairments are also prevalent in this population, but no existing study has investigated the association between ECF and functional performance in an elderly population including individuals with low ABI.Aim: To investigate the association between functional performance, as measured by the 6MWT, and loss in ECF, in an elderly sample including individuals with low ABI.Method: The ABI group was formed by 26 elderly individuals with low ABI (mean ABI: 0.63±0.19, and the control group was formed by 40 elderly individuals with normal ABI (mean ABI: 1.08±0.07. We analyzed functional performance using the 6MWT, global cognition using the Mini-Mental State Examination (MMSE, and ECF using the Digit Span for assessing attention span and working memory, the Stroop Color Word Test (SCWT for assessing information processing speed and inhibitory control/impulsivity, and the Controlled Oral Word Association Test (COWAT for assessing semantic verbal fluency and phonemic verbal fluency. We also used a factor analysis on all of the ECF tests (global ECF.Results: Before adjustment, the ABI group performed worse on global cognition, attention span, working

  5. Effects of lifestyle changes including specific dietary intervention and physical activity in the management of patients with chronic hepatitis C--a randomized trial.

    Science.gov (United States)

    Rusu, Emilia; Jinga, Mariana; Enache, Georgiana; Rusu, Florin; Dragomir, Andreea Diana; Ancuta, Ioan; Draguţ, Ramona; Parpala, Cristina; Nan, Raluca; Sima, Irina; Ateia, Simona; Stoica, Victor; Cheţa, Dan Mircea; Radulian, Gabriela

    2013-08-14

    In patients with chronic hepatitis C (CHC), obesity is involved in the pathogenesis of insulin resistance, fatty liver disease and progression of fibrosis. The objective of this study was to compare a normoglucidic low-calorie diet (NGLCD) with a low-fat diet (LFD) among participants with CHC. Aimed to measure the impact of dietary changes in reduction of insulin resistance, obesity but also in steatosis and fibrosis. Randomized, controlled trial in three medical centers with assessments at baseline, 6 months and 12 months. Participants were patients over 35 years with chronic hepatitis C (n = 120) with BMI over 25 kg/m². We evaluated the effects of NGLCD vs. LFD in weight management and metabolic improvement. The primary endpoint was to measure the impact of dietary changes through nutritional intervention in reversibility of insulin resistance, obesity, steatosis, and fibrosis. We performed anthropometric measurements, fasting glucose profile, serum lipids, liver profile, blood count at baseline, 6 and 12 months. Steatosis was evaluated using ultrasonographic criteria. Liver fibrosis was non-invasively assessed. After 6 and 12 months of intervention, both groups had a significant decrease in caloric consumption. At 6 months, weight loss was greater in the NGLCD group (-5.02 ± 3.43 kg vs. -4.1 ± 2.6 kg; p = 0.002) compared to the LFD group. At 1-year, however, weight loss was similar in both groups (-3.9 ± 3.3 kg vs. -3.1 ± 2.6 kg; p = 0.139). At 12 months, fasting plasma glucose, fasting plasma insulin, and HOMA-IR had significant improvements in both groups. With both diets aspartate aminotransferase (AST), alanine aminotransferase (ALT), gamma-glutamyl transpeptidase (GGT) decreased with significant differences; also there were significant improvements in AST/ALT ratio, Forns fibrosis index. The two diets were associated with reduction of both the prevalence and the severity of steatosis (all p lifestyle intervention (specific

  6. Real-time monitoring of radiofrequency ablation of liver tumors using thermal-dose calculation by MR temperature imaging: initial results in nine patients, including follow-up

    Energy Technology Data Exchange (ETDEWEB)

    Lepetit-Coiffe, Matthieu; Quesson, Bruno; Moonen, Chrit T.W. [Universite Victor Segalen Bordeaux 2, Laboratoire Imagerie Moleculaire et Fonctionnelle: de la physiologie a la therapie CNRS UMR 5231, Bordeaux Cedex (France); Laumonier, Herve; Trillaud, Herve [Universite Victor Segalen Bordeaux 2, Laboratoire Imagerie Moleculaire et Fonctionnelle: de la physiologie a la therapie CNRS UMR 5231, Bordeaux Cedex (France); Service de Radiologie, Hopital Saint-Andre, CHU Bordeaux, Bordeaux (France); Seror, Olivier [Universite Victor Segalen Bordeaux 2, Laboratoire Imagerie Moleculaire et Fonctionnelle: de la physiologie a la therapie CNRS UMR 5231, Bordeaux Cedex (France); Service de Radiologie, Hopital Jean Verdier, Bondy (France); Sesay, Musa-Bahazid [Service d' Anesthesie Reanimation III, Hopital Pellegrin, CHU Bordeaux, Bordeaux (France); Grenier, Nicolas [Universite Victor Segalen Bordeaux 2, Laboratoire Imagerie Moleculaire et Fonctionnelle: de la physiologie a la therapie CNRS UMR 5231, Bordeaux Cedex (France); Service d' Imagerie Diagnostique et Therapeutique de l' Adulte, Hopital Pellegrin, CHU Bordeaux, Bordeaux (France)

    2010-01-15

    To assess the practical feasibility and effectiveness of real-time magnetic resonance (MR) temperature monitoring for the radiofrequency (RF) ablation of liver tumours in a clinical setting, nine patients (aged 49-87 years, five men and four women) with one malignant tumour (14-50 mm, eight hepatocellular carcinomas and one colorectal metastasis), were treated by 12-min RF ablation using a 1.5-T closed magnet for real-time temperature monitoring. The clinical monopolar RF device was filtered at 64 MHz to avoid electromagnetic interference. Real-time computation of thermal-dose (TD) maps, based on Sapareto and Dewey's equation, was studied to determine its ability to provide a clear end-point of the RF procedure. Absence of local recurrence on follow-up MR images obtained 45 days after the RF ablation was used to assess the apoptotic and necrotic prediction obtained by real-time TD maps. Seven out of nine tumours were completely ablated according to the real-time TD maps. Compared with 45-day follow-up MR images, TD maps accurately predicted two primary treatment failures, but were not relevant in the later progression of one case of secondary local tumour. The real-time TD concept is a feasible and promising monitoring method for the RF ablation of liver tumours. (orig.)

  7. Wide tangential fields including the internal mammary lymph nodes in patients with left-sided breast cancer. Influence of respiratory-controlled radiotherapy (4D-CT) on cardiac exposure

    Energy Technology Data Exchange (ETDEWEB)

    Stranzl, Heidi; Zurl, Brigitte; Langsenlehner, Tanja; Kapp, Karin S. [University Medical School, Graz (Austria). Dept. of Therapeutic Radiotherapy and Oncology

    2009-03-15

    Purpose: To evaluate the impact of wide-tangent fields including the internal mammary chain during deep inspiration breath-hold (DIBH) radiotherapy in patients with left-sided breast cancer on cardiac exposure. Patients and Methods: Eleven patients with left-sided breast cancer were irradiated postoperatively and underwent CT scans during free breathing and DIBH. For scientific interest only, treatment plans were calculated consisting of wide tangents including the ipsilateral mammary lymph nodes using both, the free breathing and respiratory-controlled CT scan. The resulting dose-volume histograms were compared for irradiated volumes and doses to organs at risk. Results: The mean patient age was 51 years (range: 37-65 years). Radiotherapy using wide tangents with DIBH as compared to free breathing led to a significantly lower cardiac exposure. Mean irradiated heart volumes ({>=} 20 Gy) were 14 cm{sup 3} (range: 0-51.3 cm{sup 3}) versus 35 cm{sup 3} (range: 2.1-78.7 cm{sup 3}; p = 0.01). For eight patients, DIBH reduced irradiated relative lung volume, while in three patients, the lung volume slightly increased. Conclusion: Radiation exposure of organs at risk can significantly be reduced for breast cancer patients using the DIBH technique. If radiotherapy of the internal mammary lymph nodes is considered necessary, DIBH may be the preferable technique. (orig.)

  8. Optical modulator including grapene

    Energy Technology Data Exchange (ETDEWEB)

    Liu, Ming; Yin, Xiaobo; Zhang, Xiang

    2016-06-07

    The present invention provides for a one or more layer graphene optical modulator. In a first exemplary embodiment the optical modulator includes an optical waveguide, a nanoscale oxide spacer adjacent to a working region of the waveguide, and a monolayer graphene sheet adjacent to the spacer. In a second exemplary embodiment, the optical modulator includes at least one pair of active media, where the pair includes an oxide spacer, a first monolayer graphene sheet adjacent to a first side of the spacer, and a second monolayer graphene sheet adjacent to a second side of the spacer, and at least one optical waveguide adjacent to the pair.

  9. Visual Impairment, Including Blindness

    Science.gov (United States)

    ... Who Knows What? Survey Item Bank Search for: Visual Impairment, Including Blindness Links updated, April 2017 En ... doesn’t wear his glasses. Back to top Visual Impairments in Children Vision is one of our ...

  10. The formation and design of the 'Acute Admission Database'- a database including a prospective, observational cohort of 6279 patients triaged in the emergency department in a larger Danish hospital

    Directory of Open Access Journals (Sweden)

    Barfod Charlotte

    2012-04-01

    Full Text Available Abstract Background Management and care of the acutely ill patient has improved over the last years due to introduction of systematic assessment and accelerated treatment protocols. We have, however, sparse knowledge of the association between patient status at admission to hospital and patient outcome. A likely explanation is the difficulty in retrieving all relevant information from one database. The objective of this article was 1 to describe the formation and design of the 'Acute Admission Database', and 2 to characterize the cohort included. Methods All adult patients triaged at the Emergency Department at Hillerød Hospital and admitted either to the observationary unit or to a general ward in-hospital were prospectively included during a period of 22 weeks. The triage system used was a Danish adaptation of the Swedish triage system, ADAPT. Data from 3 different data sources was merged using a unique identifier, the Central Personal Registry number; 1 Data from patient admission; time and date, vital signs, presenting complaint and triage category, 2 Blood sample results taken at admission, including a venous acid-base status, and 3 Outcome measures, e.g. length of stay, admission to Intensive Care Unit, and mortality within 7 and 28 days after admission. Results In primary triage, patients were categorized as red (4.4%, orange (25.2%, yellow (38.7% and green (31.7%. Abnormal vital signs were present at admission in 25% of the patients, most often temperature (10.5%, saturation of peripheral oxygen (9.2%, Glasgow Coma Score (6.6% and respiratory rate (4.8%. A venous acid-base status was obtained in 43% of all patients. The majority (78% had a pH within the normal range (7.35-7.45, 15% had acidosis (pH 7.45. Median length of stay was 2 days (range 1-123. The proportion of patients admitted to Intensive Care Unit was 1.6% (95% CI 1.2-2.0, 1.8% (95% CI 1.5-2.2 died within 7 days, and 4.2% (95% CI 3.7-4.7 died within 28 days after admission

  11. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions

    DEFF Research Database (Denmark)

    Kirchhoff, Maria; Bisgaard, Anne-Marie; Bryndorf, Thue;

    2007-01-01

    -Beuren, Prader-Willi, Angelman, Miller-Dieker, Smith-Magenis, and 22q11-deletion syndromes). Patients were initially referred for HR-CGH analysis and MRS-MLPA was performed retrospectively. MRS-MLPA analysis revealed imbalances in 15/258 patients (5.8%). Ten deletions were identified, including deletions of 1p36......, 5q35 (Sotos syndrome), 7q11 (Williams-Beuren syndrome), 17p11 (Smith-Magenis syndrome), 15q11 (Angelman syndrome) and 22q11. Duplications were detected in 5q35, 7q11, 17p13, 17p11 and 22q11. We reviewed another 170 patients referred specifically for MRS-MLPA analysis. Eighty of these patients were...

  12. Analytic device including nanostructures

    KAUST Repository

    Di Fabrizio, Enzo M.

    2015-07-02

    A device for detecting an analyte in a sample comprising: an array including a plurality of pixels, each pixel including a nanochain comprising: a first nanostructure, a second nanostructure, and a third nanostructure, wherein size of the first nanostructure is larger than that of the second nanostructure, and size of the second nanostructure is larger than that of the third nanostructure, and wherein the first nanostructure, the second nanostructure, and the third nanostructure are positioned on a substrate such that when the nanochain is excited by an energy, an optical field between the second nanostructure and the third nanostructure is stronger than an optical field between the first nanostructure and the second nanostructure, wherein the array is configured to receive a sample; and a detector arranged to collect spectral data from a plurality of pixels of the array.

  13. TRICARE; Changes included in the John Warner National Defense Authorization Act for Fiscal Year 2007; authorization of anesthesia and other costs for dental care for children and certain other patients. Final rule.

    Science.gov (United States)

    2007-09-25

    This final rule implements section 702 of the John Warner National Defense Authorization Act for Fiscal Year 2007, Public Law 109-364. The rule provides coverage of contracted medical care with respect to dental care beyond that care required as a necessary adjunct to medical or surgical treatment. The entitlement of institutional and anesthesia services is authorized in conjunction with non-covered dental treatment for patients with developmental, mental, or physical disabilities or for pediatric patients age 5 or under. This final rule does not eliminate any contracted medical care that is currently covered for spouses and children. The entitlement of anesthesia services includes general anesthesia services only. Institutional services include institutional benefits associated with both hospital and in-out surgery settings. Patients with developmental, mental, or physical disabilities are those patients with conditions that prohibit dental treatment in a safe and effective manner. Therefore, it is medically or psychologically necessary for these patients to require general anesthesia for dental treatment.

  14. Strategy that includes serial noninvasive leg tests for diagnosis of thromboembolic disease in patients with suspected acute pulmonary embolism based on data from PIOPED. Prospective Investigation of Pulmonary Embolism Diagnosis.

    Science.gov (United States)

    Stein, P D; Hull, R D; Pineo, G

    1995-10-23

    % to 66%) if only a single noninvasive leg test were performed, and further reduced to 193 (29%) of 662 (95% CI, 26% to 33%) if serial noninvasive leg tests were used where appropriate. A noninvasive strategy that includes VQ scans, single noninvasive leg tests, and serial noninvasive leg tests would permit a diagnosis of thromboembolic disease or a safe exclusion of thromboembolic disease in 71% of patients with suspected acute pulmonary embolism.

  15. Development of a modified prognostic index of patients with aggressive adult T-cell leukemia-lymphoma aged 70 years or younger: a possible risk-adapted management strategies including allogeneic transplantation.

    Science.gov (United States)

    Fuji, Shigeo; Yamaguchi, Takuhiro; Inoue, Yoshitaka; Utsunomiya, Atae; Moriuchi, Yukiyoshi; Uchimaru, Kaoru; Owatari, Satsuki; Miyagi, Takashi; Taguchi, Jun; Choi, Ilseung; Otsuka, Eiichi; Nakachi, Sawako; Yamamoto, Hisashi; Kurosawa, Saiko; Tobinai, Kensei; Fukuda, Takahiro

    2017-03-24

    Adult T-cell leukemia-lymphoma is a distinct type of peripheral T-cell lymphoma caused by human T-cell lymphotropic virus type I. Although allogeneic stem cell transplantation after chemotherapy is a recommended treatment option for patients with aggressive adult T-cell leukemia-lymphoma, there is no consensus about indications for allogeneic stem cell transplantation because there is no established risk stratification system for transplant eligible patients. We conducted a nationwide survey of patients with aggressive adult T-cell leukemia-lymphoma to construct a new large database that includes 1,792 patients aged 70 years or younger with aggressive adult T-cell leukemia-lymphoma who were diagnosed between 2000 and 2013 and received intensive first-line chemotherapy. We randomly divided patients into two groups (training and validation sets). Acute type, poor performance status, high soluble interleukin-2 receptor level (> 5,000 U/mL), high adjusted calcium level (≥ 12 mg/dL), and high C-reactive protein level (≥ 2.5 mg/dL) were independent adverse prognostic factors using the training set. We used these five variables to divide patients into three risk groups. In the validation set, medial overall survival was 626 days, 322 days, and 197 days for the low-, intermediate-, and high-risk groups, respectively. In the intermediate- and high-risk groups, transplanted recipients had significantly better overall survival than non-transplanted patients. We developed a new promising risk stratification system to identify patients aged 70 years or younger with aggressive adult T-cell leukemia-lymphoma who may benefit from upfront allogeneic stem cell transplantation. Prospective studies are warranted to confirm the benefit of this treatment strategy.

  16. Incidence of Brain Metastases on Follow-up (18)F-FDG PET/CT Scans of Non-Small Cell Lung Cancer Patients: Should We Include the Brain?

    Science.gov (United States)

    Nia, Emily S; Garland, Linda L; Eshghi, Naghmehossadat; Nia, Benjamin B; Avery, Ryan J; Kuo, Phillip H

    2017-09-01

    The brain is the most common site of distant metastasis from lung cancer. Thus, MRI of the brain at initial staging is routinely performed, but if this examination is negative a follow-up examination is often not performed. This study evaluates the incidence of asymptomatic brain metastases in non-small cell lung cancer patients detected on follow-up (18)F-FDG PET/CT scans. Methods: In this Institutional Review Board-approved retrospective review, all vertex to thigh (18)F-FDG PET/CT scans in patients with all subtypes of lung cancer from August 2014 to August 2016 were reviewed. A total of 1,175 (18)F-FDG PET/CT examinations in 363 patients were reviewed. Exclusion criteria included brain metastases on initial staging, histologic subtype of small-cell lung cancer, and no follow-up (18)F-FDG PET/CT examinations. After our exclusion criteria were applied, a total of 809 follow-up (18)F-FDG PET/CT scans in 227 patients were included in the final analysis. The original report of each (18)F-FDG PET/CT study was reviewed for the finding of brain metastasis. The finding of a new brain metastasis prompted a brain MRI, which was reviewed to determine the accuracy of the (18)F-FDG PET/CT. Results: Five of 227 patients with 809 follow-up (18)F-FDG PET/CT scans reviewed were found to have incidental brain metastases. The mean age of the patients with incidental brain metastasis was 68 y (range, 60-77 y). The mean time from initial diagnosis to time of detection of incidental brain metastasis was 36 mo (range, 15-66 mo). When MRI was used as the gold standard, our false-positive rate was zero. Conclusion: By including the entire head during follow-up (18)F-FDG PET/CT scans of patients with non-small cell lung cancer, brain metastases can be detected earlier while still asymptomatic. But, given the additional scan time, radiation, and low incidence of new brain metastases in asymptomatic patients, the cost-to-benefit ratio should be weighed by each institution. © 2017 by the

  17. Association of nutrition parameters including bioelectrical impedance and systemic inflammatory response with quality of life and prognosis in patients with advanced non-small-cell lung cancer: a prospective study.

    Science.gov (United States)

    Sánchez-Lara, Karla; Turcott, Jenny G; Juárez, Eva; Guevara, Patricia; Núñez-Valencia, Carolina; Oñate-Ocaña, Luis F; Flores, Diana; Arrieta, Oscar

    2012-01-01

    Early identification and treatment of nutritional deficiencies can lead to improved outcomes in the quality of life (QoL) and survival of patients with nonsmall cell lung cancer (NSCLC). Noninvasive techniques are needed to evaluate changes in body composition as part of determining nutritional status. The aim of the study was to evaluate the association of nutritional parameters in health-related quality of life (HRQL) and survival in patients with advanced NSCLC. Chemotherapy-naïve patients with advanced NSCLC with good performance status Eastern Cooperative Oncology Group (ECOG) 0-2 were included prospectively in the study. We evaluated inflammatory parameters such as C-reactive protein, platelet/lymphocyte index, neutrophil/lymphocyte index, serum interleukin (IL)-6, and tumor necrosis factor-α, and nutritional variables such as body mass index (BMI) and serum albumin levels. Bioelectrical impedance analysis including phase angle was obtained before cisplatin-based chemotherapy was started. HRQL was assessed by application of the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (QLQ)-C30 and QLQ-LC13 instruments at baseline. Overall survival (OS) was calculated with the Kaplan-Meier method and analyzed with log-rank and Cox proportional hazard models. One hundred nineteen patients were included. Mean BMI was 24.8 ± 4.5 kg/m(2), average weight loss of patients was 8.4%, and median phase angle was 5.8°. Malnutrition measured by subjective global assessment (SGA), weight loss >10%, BMI >20 was associated with lower HRQL scales. Patients with ECOG 2, high content serum IL-6, lower phase angle, and malnutrition parameters showed lower OS; however, after multivariate analysis, only ECOG 2 [Hazard ratio (HR), 2.7; 95% confidence interval (95% CI), 1.5-4.7; P = 0.001], phase angle ≤5.8° (HR = 3.02; 95% CI: 1.2-7.11; P = 0.011), and SGA (HR = 2.7; 95% CI, 1.31-5.5; P = 0.005) were associated with poor survival. Patients

  18. Clinical and radiographic features of Hutchinson-Gilford progeria syndrome: A case report.

    Science.gov (United States)

    Alves, Daniel Berretta; Silva, Juliana Melo; Menezes, Tatiany Oliveira; Cavaleiro, Rosely Santos; Tuji, Fabrício Mesquita; Lopes, Marcio Ajudarte; Zaia, Alexandre Augusto; Coletta, Ricardo Della

    2014-03-16

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare dysmorphic syndrome characterized by several features of premature aging with clinical involvement of the skin, bones, and cardiovascular system. HGPS has an estimated incidence of one in four million to one in eight million births. The main clinical features of HGPS include short stature, craniofacial dimorphism, alopecia, bone fragility, and cardiovascular disorders. The most frequent cause of death is myocardial infarction at a mean age of 13 years old. Dental manifestations include delayed development and eruption of teeth, discoloration, crowding and rotation of teeth, and displaced teeth. Cone beam computed tomography images revealed the absence of the sphenoid, frontal, and maxillary sinus, flattening of the condyles and glenoid fossa, and bilateral hypoplasia of the mandibular condyles. The disease is caused by mutations in lamin A/C (LMNA). Here, we present a case report of an 11-year-old boy with classical features of HGPS, which was caused by a de novo germ-line mutation (C1824T, G608G) in exon 11 of the LMNA gene. Some uncommon HGPS-associated features in our patient, such as alterations in the facial sinuses and hypoplasia of the condyles, contributed to the expansion of the phenotypic spectrum of this syndrome from a dentomaxillofacial perspective.

  19. Hip pathology in Hutchinson-Gilford progeria syndrome: a report of two children.

    Science.gov (United States)

    Akhbari, Pouya; Jha, Shilpa; James, Kyle D; Hinves, Barry L; Buchanan, Jamie A F

    2012-11-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder. The estimated incidence is one in 4 million births. Orthopaedic manifestations include abnormality of the hips occurring early in the disease process. Severe coxa valga can be apparent by the age of 2 years. We report two cases of HGPS, one in a 7-year-old girl with avascular necrosis of the left hip and the second in a 13-year-old girl with recurrent traumatic hip dislocations. We demonstrate the pathoanatomical changes in the hip with HGPS using a combination of imaging modalities including radiographic, computed tomographic and MRI scans. These include coxa magna, coxa valga and acetabular dysplasia. We also comment on how these would affect the surgical management of this high-risk group of patients.

  20. Less invasive corrective surgery using oblique lateral interbody fusion (OLIF) including L5-S1 fusion for severe lumbar kyphoscoliosis due to L4 compression fracture in a patient with Parkinson's disease: a case report.

    Science.gov (United States)

    Wakita, Hiromasa; Shiga, Yasuhiro; Ohtori, Seiji; Kubota, Go; Inage, Kazuhide; Sainoh, Takeshi; Sato, Jun; Fujimoto, Kazuki; Yamauchi, Kazuyo; Nakamura, Junichi; Takahashi, Kazuhisa; Toyone, Tomoaki; Aoki, Yasuchika; Inoue, Gen; Miyagi, Masayuki; Orita, Sumihisa

    2015-04-07

    Corrective surgery for kyphoscoliosis patients tend to be highly invasive due to osteotomy. The present case introduce less invasive corrective surgery using anterior oblique lateral interbody fusion (OLIF) technique. An 80-year-old Japanese man with a history of Parkinson's disease presented to our hospital because of severe kyphoscoliosis and gait disturbance. Considering the postsurgical complications due to osteotomy, we performed an anterior-posterior combined corrective fusion surgery: OLIF of Lumbar (L) 2-3, L3-4, and L4-5 (Medtronic Sofamor Danek, Memphis, TN, USA) followed by L5-Sacral (S) 1 anterior lumbar fusion via the OLIF approach using an anterior intervertebral cage, and posterior L3-4 and L4-5 facetectomy and posterior fusion using percutaneous pedicle screws from Thoracic (T) 10 to S1 with a T-9 hook system. The surgery was performed in a less invasive manner with no osteotomy, and it improved the sagittal alignments with moderate restoration, which improved the patient's posture and gait disturbance. The patient showed transient muscle weakness of proximal lower extremity contralateral side to the surgical site, which fully recovered by physical rehabilitation 3 months after the surgery. The surgical corrective procedure using the minimally invasive OLIF method including L5-S1 fusion showed a great advantage in treating degenerative kyphoscoliosis in a Parkinson's disease patient in its less-invasive approac.

  1. A double-blind, randomized trial, including frequent patient–physician contacts and Ramadan-focused advice, assessing vildagliptin and gliclazide in patients with type 2 diabetes fasting during Ramadan: the STEADFAST study

    Directory of Open Access Journals (Sweden)

    Hassanein M

    2014-05-01

    Full Text Available Mohamed Hassanein,1 Khalifa Abdallah,2 Anja Schweizer31Betsi Cadwaladr University Health Board, Wales, United Kingdom; 2Clinical Research Center, Alexandria University Hospital, Alexandria, Egypt; 3Global Medical Affairs, Novartis Pharma AG, Basel, SwitzerlandBackground: Several observational studies were conducted with vildagliptin in patients with type 2 diabetes mellitus (T2DM fasting during Ramadan, showing significantly lower incidences of hypoglycemia with vildagliptin versus sulfonylureas, including gliclazide. It was of interest to complement the existing real-life evidence with data from a randomized, double-blind, clinical trial.Clinical Trials Identifier: NCT01758380.Methods: This multiregional, double-blind study randomized 557 patients with T2DM (mean glycated hemoglobin [HbA1c], 6.9%, previously treated with metformin and any sulfonylurea to receive either vildagliptin (50 mg twice daily or gliclazide plus metformin. The study included four office visits (three pre-Ramadan and multiple telephone contacts, as well as Ramadan-focused advice. Hypoglycemic events were assessed during Ramadan; HbA1c and weight were analyzed before and after Ramadan.Results: The proportion of patients reporting confirmed (<3.9 mmol/L and/or severe hypoglycemic events during Ramadan was 3.0% with vildagliptin and 7.0% with gliclazide (P=0.039; one-sided test, and this was 6.0% and 8.7%, respectively, for any hypoglycemic events (P=0.173. The adjusted mean change pre- to post-Ramadan in HbA1c was 0.05%±0.04% with vildagliptin and -0.03%±0.04% with gliclazide, from baselines of 6.84% and 6.79%, respectively (P=0.165. In both groups, the adjusted mean decrease in weight was -1.1±0.2 kg (P=0.987. Overall safety was similar between the treatments.Conclusion: In line with the results from previous observational studies, vildagliptin was shown in this interventional study to be an effective, safe, and well-tolerated treatment in patients with T2DM fasting

  2. Innovative gastric endoscopic muscle biopsy to identify all cell types, including myenteric neurons and interstitial cells of Cajal in patients with idiopathic gastroparesis: a feasibility study (with video).

    Science.gov (United States)

    Rajan, Elizabeth; Gostout, Christopher J; Wong Kee Song, Louis M; Szarka, Lawrence A; Kashyap, Purna C; Smyrk, Thomas C; Bingener, Juliane; Deters, Jodie L; Knipschield, Mary A; Bernard, Cheryl E; Farrugia, Gianrico

    2016-09-01

    The pathophysiology of some GI neuromuscular diseases remains largely unknown. This is in part due to the inability to obtain ample deep gastric wall biopsies that include the intermuscular layer of the muscularis propria (MP) to evaluate the enteric nervous system, interstitial cells of Cajal (ICCs), and related cells. We report on a novel technique for gastric endoscopic muscle biopsy (gEMB). Patients with idiopathic gastroparesis were prospectively enrolled in a feasibility study by using a novel "no hole" gEMB. Main outcome measures were technical success, adverse events, and histologic confirmation of the intermuscular layer, including myenteric neurons and ICC. The gEMB was a double resection clip-assist technique. A site was identified on the anterior wall of the gastric body as recommended by the International Working Group on histologic techniques. EMR was performed to unroof and expose the underlying MP. The exposed MP was then retracted into the cap of an over-the-scope clip. The clip was deployed, and the pseudopolyp of MP created was resected. This resulted in a no-hole gEMB. Three patients with idiopathic gastroparesis underwent gEMB. Patients had severe delayed gastric emptying with a mean (± standard deviation [SD]) of 49 ± 16.8% of retained gastric contents at 4 hours. They had no history of gastric or small-bowel surgery and did not use steroids or other immunosuppressive drugs. The gEMB procedure was successfully performed, with no procedural adverse events. Postprocedural abdominal pain was controlled with nonsteroidal anti-inflammatory agents and opioid analgesics. Mean length of resected MP was 10.3 ± 1.5 mm. Mean procedure time was 25.7 ± 6 minutes. Hematoxylin and eosin (H&E) staining of tissue samples confirmed the presence of both inner circular and outer longitudinal muscle, as well as the intermuscular layer. H&E staining showed reduced myenteric ganglia in 1 patient. In 2 patients, specialized immunohistochemistry was performed

  3. A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures.

    Science.gov (United States)

    Smyk, Marta; Roeder, Elizabeth; Cheung, Sau Wai; Szafranski, Przemyslaw; Stankiewicz, Paweł

    2015-08-01

    Defects of long-range regulatory elements of dosage-sensitive genes represent an under-recognized mechanism underlying genetic diseases. Haploinsufficiency of SOX9, the gene essential for development of testes and differentiation of chondrocytes, results in campomelic dysplasia, a skeletal malformation syndrome often associated with sex reversal. Chromosomal rearrangements with breakpoints mapping up to 1.6 Mb up- and downstream to SOX9, and disrupting its distant cis-regulatory elements, have been described in patients with milder forms of campomelic dysplasia, Pierre Robin sequence, and sex reversal. We present an ∼1.58 Mb deletion mapping ∼1.28 Mb upstream to SOX9 that encompasses its putative long-range cis-regulatory element(s) and MAP2K6 in a patient with Pierre Robin sequence and osteopenia with multiple fractures. Low bone mass panel testing using massively parallel sequencing of 23 nuclear genes, including COL1A1 and COL1A2 was negative. Based on the previous mouse model of Map2k6, suggesting that Sox9 is likely a downstream target of the p38 MAPK pathway, and our previous chromosome conformation capture-on-chip (4C) data showing potential interactions between SOX9 promoter and MAP2K6, we hypothesize that deletion of MAP2K6 might have affected SOX9 expression and contributed to our patient's phenotype.

  4. Clinicopathological features of aggressive B-cell lymphomas including B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell and Burkitt lymphomas: a study of 44 patients from Argentina.

    Science.gov (United States)

    Bürgesser, María Virginia; Gualco, Gabriela; Diller, Ana; Natkunam, Yasodha; Bacchi, Carlos E

    2013-06-01

    Aggressive B-cell lymphomas incorporate a wide spectrum of lymphomas that pose challenges in diagnosis as well as treatment. We evaluated the clinicopathological features of 44 patients with aggressive B-cell lymphomas which were classified into 3 groups based on the World Health Organization 2008 classification as follows: including 30 cases of diffuse large B-cell lymphoma (DLBCL), 8 cases of Burkitt lymphoma (BL) and 6 cases of B-cell lymphoma, unclassifiable, with features intermediate between Burkitt lymphoma and diffuse large B-cell lymphoma (BCLU). Male predominance was observed in BL and BCLU groups and the mean age varied from 29 years in BL, 61 years in DLBCL and 70 years in BCLU. Patients with BCLU presented at more advanced stages and had a higher international prognostic index. By immunohistochemistry, they shared characteristics of both BL (including more frequent expression of SOX11) and DLBCL. FISH analyses showed three cases with more than one rearrangement: one MYC/BCL2 and two BCL2/BCL6, in addition to which one case with BCL2/IGH translocation and another with MYC rearrangement were also detected. The mean follow-up survival time of BCLU was 6.6 months, which was significantly shorter in comparison to DLBCL (31 months) and BL (30 months), respectively. The importance of recognizing this BCLU group relies on its different clinical course, poor prognosis and shorter survival than DLBCL and BL. An accurate diagnosis is critical for risk stratification and to improve therapeutic approaches and outcomes.

  5. Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.

    Science.gov (United States)

    Garavelli, Livia; Piemontese, Maria Rosaria; Cavazza, Alberto; Rosato, Simonetta; Wischmeijer, Anita; Gelmini, Chiara; Albertini, Enrico; Albertini, Giuseppe; Forzano, Francesca; Franchi, Fabrizia; Carella, Massimo; Zelante, Leopoldo; Superti-Furga, Andrea

    2013-11-01

    Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant condition mainly characterized by the development of mandibular keratocysts which often have their onset during the second decade of life and/or multiple basal cell carcinoma (BCC) normally arising during the third decade. Cardiac and ovarian fibromas can be found. Patients with NBCCS develop the childhood brain malignancy medulloblastoma (now often called primitive neuro-ectodermal tumor [PNET]) in 5% of cases. The risk of other malignant neoplasms is not clearly increased, although lymphoma and meningioma can occur in this condition. Wilms tumor has been mentioned in the literature four times. We describe a patient with a 10.9 Mb 9q22.3 deletion spanning 9q22.2 through 9q31.1 that includes the entire codifying sequence of the gene PTCH1, with Wilms tumor, multiple neoplasms (lung, liver, mesenteric, gastric and renal leiomyomas, lung typical carcinoid tumor, adenomatoid tumor of the pleura) and a severe clinical presentation. We propose including leiomyomas among minor criteria of the NBCCS.

  6. Suicides and Suicide Attempts during Long-Term Treatment with Antidepressants: A Meta-Analysis of 29 Placebo-Controlled Studies Including 6,934 Patients with Major Depressive Disorder.

    Science.gov (United States)

    Braun, Cora; Bschor, Tom; Franklin, Jeremy; Baethge, Christopher

    It is unclear whether antidepressants can prevent suicides or suicide attempts, particularly during long-term use. We carried out a comprehensive review of long-term studies of antidepressants (relapse prevention). Sources were obtained from 5 review articles and by searches of MEDLINE, PubMed Central and a hand search of bibliographies. We meta-analyzed placebo-controlled antidepressant RCTs of at least 3 months' duration and calculated suicide and suicide attempt incidence rates, incidence rate ratios and Peto odds ratios (ORs). Out of 807 studies screened 29 were included, covering 6,934 patients (5,529 patient-years). In total, 1.45 suicides and 2.76 suicide attempts per 1,000 patient-years were reported. Seven out of 8 suicides and 13 out of 14 suicide attempts occurred in antidepressant arms, resulting in incidence rate ratios of 5.03 (0.78-114.1; p = 0.102) for suicides and of 9.02 (1.58-193.6; p = 0.007) for suicide attempts. Peto ORs were 2.6 (0.6-11.2; nonsignificant) and 3.4 (1.1-11.0; p = 0.04), respectively. Dropouts due to unknown reasons were similar in the antidepressant and placebo arms (9.6 vs. 9.9%). The majority of suicides and suicide attempts originated from 1 study, accounting for a fifth of all patient-years in this meta-analysis. Leaving out this study resulted in a nonsignificant incidence rate ratio for suicide attempts of 3.83 (0.53-91.01). Therapists should be aware of the lack of proof from RCTs that antidepressants prevent suicides and suicide attempts. We cannot conclude with certainty whether antidepressants increase the risk for suicide or suicide attempts. Researchers must report all suicides and suicide attempts in RCTs. © 2016 S. Karger AG, Basel.

  7. Pacientes afectos de neoplasia de cabeza-cuello con nutrición enteral domiciliaria por sonda Head and neck cancer patients included at home enteral nutrition by tube

    Directory of Open Access Journals (Sweden)

    I. Cots Seignot

    2009-10-01

    Full Text Available Objetivo: Conocer las características y la evolución de los pacientes diagnosticados de neoplasia de cabeza y cuello (NCC que precisaron recibir tratamiento de radioterapia y que fueron atendidos en un programa de nutrición enteral por sonda a domicilio (NESD. Análisis del peso en función de administrar la nutrición enteral antes o después del inicio de la radioterapia. Material y métodos: Estudio observacional de pacientes con NCC incluidos en el programa de NESD de nuestro hospital durante 2 años. Variables analizadas: sexo, edad, índice de masa corporal (IMC, índice de Karnofsky (IK, motivo del inicio de soporte nutricional, tipo de sonda para la administración de la nutrición, tipo de fórmula nutricional y aporte calórico prescrito, necesidad de cambio de vía y días de NESD. Resultados: Se incluyeron 62 pacientes (77,4% varones y 22,6% hembras con una edad media de 64 años ± 10,1 (rango entre 39 y 90. La disfagia fue el motivo principal de colocación de sonda en estos pacientes. Predominio de sonda nasogástrica (67,7%. La fórmula más utilizada fue la polimérica hipercalórica con un aporte calórico de 1.629 ± 267,09 kcal/día. Globalmente, se observó una pérdida de peso en todos los pacientes durante el período de estudio. Sin embargo, aquellos en los que se inició la NESD antes de la radioterapia el IMC no disminuyó. Conclusión: Los pacientes que iniciaron nutrición por sonda con anterioridad al tratamiento oncológico no perdieron peso durante el periodo de estudio.Objective: To know characteristics and the patients' evolution with head and neck cancer who received radiotherapy treatment and they were included at a home enteral nutrition (HEN by feeding tube programme. To analyse the weight evolution according to the start of HEN before or after radiotherapy. Methods: Observational study of tube feeding patients with head and neck cancer who were included in HEN programme in our hospital for two years

  8. Screening items to be included in patient-reported outcome instrument for liver cirrhosis%肝硬化患者报告结局量表条目的筛选

    Institute of Scientific and Technical Information of China (English)

    赵芬; 杨圆圆; 杨晶; 张知良; 刘近春; 张岩波

    2016-01-01

    目的:根据美国食品与药品管理局(FDA)所规定的患者报告结局(PRO)量表的制作原则与流程,开发肝硬化患者报告的临床结局评价量表。方法通过文献查阅、患者访谈及参照国内外有关量表,收集和提取肝硬化患者的重要信息,构建概念框架,进而形成条目池。再经由患者认知测试、患者评价及专家评审,完善条目池,形成最初的量表。用此量表分别在山西省不同地区的不同级别的8所医院进行小规模的预调查,回收问卷后,应用经典测量理论、项目反应理论(IRT)共7种方法对条目进行筛选,将其结果与专业知识结合后删除不符合要求的条目,形成初始量表。最后使用初始量表在上述8所医院开展大规模的正式调查,用与预调查相同的方法对条目进行第二次筛选,形成终选量表。结果终选量表含有50个条目,分为生理、心理、社会、治疗4个领域,共计13个维度。结论形成的终选量表基本符合理论框架,筛选出的条目能够较好地反映肝硬化患者生命质量的内涵。%Objective To develop a patient-reported outcome (PRO) instrument for patients with liver cirrhosis based on principles and procedure stipulated by the US Food and Drug Administration (FDA). Methods Review of literature, patient interviews and reference to relevant domestic and international scales were conducted. Important data were collected and extracted from patients with cirrhosis. Thereby we built up a conceptual framework that finally formed the item pool. Through patient cognitive tests, patient evaluation and expert assessment, the item pool was re-fined and subsequently an earliest version of scale was developed. This scale was used in small preliminary question-naire surveys in eight hospitals of different levels at several parts of Shanxi Province. After the questionnaires were re-trieved, seven methods including the

  9. A multifactorial approach including tumoural epidermal growth factor receptor, p53, thymidylate synthase and dihydropyrimidine dehydrogenase to predict treatment outcome in head and neck cancer patients receiving 5-fluorouracil

    OpenAIRE

    Etienne, M. C.; Pivot, X; Formento, J. L.; Bensadoun, R J; Formento, P.; Dassonville, O; Francoual, M.; Poissonnet, G.; Fontana, X; Schneider, M.; Demard, F.; Milano, G

    1999-01-01

    The prognostic value of tumoural epidermal growth factor receptor (EGFR), p53, thymidylate synthase (TS) and dihydropyrimidine dehydrogenase (DPD) was analysed on 82 advanced head and neck cancer patients (71 men, 11 women; mean age 59). Induction treatment was cisplatin–5-FU ± folinic acid (61 patients, Chem group) or concomitant cisplatin–5-FU–radiotherapy (21 patients, RChem group). EGFR (binding assay), p53 protein (Sangtec immunoluminometric assay), TS and DPD activities (radioenzymatic ...

  10. An ER activity profile including ER, PR, Bcl-2 and IGF-IR may have potential as selection criterion for letrozole or tamoxifen treatment of patients with advanced breast cancer

    DEFF Research Database (Denmark)

    Henriksen, Katrine L; Rasmussen, Birgitte B; Lykkesfeldt, Anne E

    2009-01-01

    microarrays from formalin fixed paraffin embedded primary tumor material from a subgroup of patients (9.4%), who have participated in the international, randomized, phase III clinical trial PO25 comparing letrozole with tamoxifen in 907 patients with advanced breast cancer. The expression levels of ER...

  11. Efficacy of melflufen, a peptidase targeted therapy, and dexamethasone in an ongoing open-label phase 2a study in patients with relapsed and relapsed-refractory multiple myeloma (RRMM) including an initial report on progression free survival

    DEFF Research Database (Denmark)

    Voorhees, P. M.; Magarotto, V.; Sonneveld, P.

    2015-01-01

    %) and constipation and epistaxis (13%). Treatment-related Grade 3 or 4 AEs were reported in 27 patients (87%). Those occurring in >5% of patients were thrombocytopenia (68%), neutropenia (55%), anemia (42%), leukopenia (32%) and febrile neutropenia, fatigue, pyrexia, asthenia and hyperglycemia each occurred in 6...

  12. Differences in postoperative morbidity rates, including infection and dry socket, and differences in the healing process after mandibular third molar surgery in patients receiving 1-day or 3-day prophylaxis with lenampicillin.

    Science.gov (United States)

    Yoshii, Takashi; Hamamoto, Yoshihiko; Muraoka, Shigetada; Furudoi, Shungo; Komori, Takahide

    2002-03-01

    The aim of this study was to examine the effect of antibiotic prophylaxis for mandibular third molar surgery from the viewpoint of the duration of administration. A comparative study was conducted on postoperative infection, dry socket, and the healing process in 178 healthy patients receiving 1-day or 3-day prophylaxis with lenampicillin (LAPC; 1.5 g/day). Postoperative infection developed in only 1 (1.1%) of the 91 patients in the 3-day group, while there was no patient with infection in the 87 patients in the 1-day group. Dry socket developed in 8.0% of the 87 patients in the 1-day group and in 7.7% of the 91 patients in the 3-day group. However, the incidence of these complications, in relation to the degree of impaction of the molars, did not significantly differ between the 1-day and 3-day groups. Scores indicating clinical symptoms for the 7 days after surgery also reflected no significant difference between the groups, irrespective of the degree of impaction. These results suggest that 1-day therapy with LAPC in our regimen may at least be recommended as a prophylaxis for mandibular third molar surgery in medically healthy patients.

  13. Hepatitis C-Induced Hepatitis Flare in a Patient with Non-Hodgkin B-Cell Lymphoma Treated by Rituximab Including Chemotherapy (Rituximab, Cyclophosphamide, Hydroxydaunorubicin, Oncovin - Vincristine, Prednisolone Regimen

    Directory of Open Access Journals (Sweden)

    Asim Ulcay

    2014-06-01

    Full Text Available Hepatitis virus infections can lead to more critical outcomes such as severe hepatic dysfunction, failure and fulminancy in immunosuppressive patients compared to immunocompetent individuals. It is globally accepted that reactivation of both Hepatitis B virus [HBV ] and Hepatitis C virus [HCV] occurs after chemotherapy and antibody treatments of malignant diseases or solid organ/ bone marrow transplant in recipient patients. Especially among B-cell Non Hodgkin Lymphoma [NHL] patients, according to various studies, the seroprevelance of HCV is higher than that of the general population. On the other hand the role of HCV in the pathogenesis and etiology of NHL has been suggested. Today, cytotoxic drugs, corticosteroids, rituximab and hepatotoxic regimens are administered to NHL patients. Specifically, it has been emphasized that the utilization of rituximab [Anti CD20 antibody ] regiments for B-cell NHL patients may result with flares in HCV patients conspicuously. Here, we report the case of an acute flare up due to HCV infection in a patient who underwent a 4 month course of rituximab containing chemotherapy against a B cell NHL [CD20+ ] disease and a dramatic recovery from HCV infection at the end. [Dis Mol Med 2014; 2(3.000: 51-54

  14. Accelerated aging syndromes, are they relevant to normal human aging?

    Science.gov (United States)

    Dreesen, Oliver; Stewart, Colin L

    2011-09-01

    Hutchinson-Gilford Progeria (HGPS) and Werner syndromes are diseases that clinically resemble some aspects of accelerated aging. HGPS is caused by mutations in theLMNA gene resulting in post-translational processing defects that trigger Progeria in children. Werner syndrome, arising from mutations in the WRN helicase gene, causes premature aging in young adults. What are the molecular mechanism(s) underlying these disorders and what aspects of the diseases resemble physiological human aging? Much of what we know stems from the study of patient derived fibroblasts with both mutations resulting in increased DNA damage, primarily at telomeres. However, in vivo patients with Werner's develop arteriosclerosis, among other pathologies. In HGPS patients, including iPS derived cells from HGPS patients, as well as some mouse models for Progeria, vascular smooth muscle (VSM) appears to be among the most severely affected tissues. Defective Lamin processing, associated with DNA damage, is present in VSM from old individuals, indicating processing defects may be a factor in normal aging. Whether persistent DNA damage, particularly at telomeres, is the root cause for these pathologies remains to be established, since not all progeroid Lmna mutations result in DNA damage and genome instability.

  15. Efficacy of melflufen, a peptidase targeted therapy, and dexamethasone in an ongoing open-label phase 2a study in patients with relapsed and relapsed-refractory multiple myeloma (RRMM) including an initial report on progression free survival

    DEFF Research Database (Denmark)

    Voorhees, P. M.; Magarotto, V.; Sonneveld, P.;

    2015-01-01

    in >10% of patients, regardless of relationship to study drug were thrombocytopenia (94%), anemia (84%), neutropenia (61%), leukopenia (42%), pyrexia (36%), asthenia (32%), fatigue and nausea (26%), bone pain (19%), cough, diarrhea, dyspnea, mucosal inflammation and upper respiratory infection (16...

  16. Comparison of the Performance of the TPTest, Tubex, Typhidot and Widal Immunodiagnostic Assays and Blood Cultures in Detecting Patients with Typhoid Fever in Bangladesh, Including Using a Bayesian Latent Class Modeling Approach.

    Science.gov (United States)

    Islam, Kamrul; Sayeed, Md Abu; Hossen, Emran; Khanam, Farhana; Charles, Richelle C; Andrews, Jason; Ryan, Edward T; Qadri, Firdausi

    2016-04-01

    There is an urgent need for an improved diagnostic assay for typhoid fever. In this current study, we compared the recently developed TPTest (Typhoid and Paratyphoid Test) with the Widal test, blood culture, and two commonly used commercially available kits, Tubex and Typhidot. For analysis, we categorized 92 Bangladeshi patients with suspected enteric fever into four groups: S. Typhi bacteremic patients (n = 28); patients with a fourfold change in Widal test from day 0 to convalescent period (n = 7); patients with Widal titer ≥1:320 (n = 13) at either acute or convalescent stage of disease; and patients suspected with enteric fever, but with a negative blood culture and Widal titer (n = 44). We also tested healthy endemic zone controls (n = 20) and Bangladeshi patients with other febrile illnesses (n = 15). Sample size was based on convenience to facilitate preliminary analysis. Of 28 S. Typhi bacteremic patients, 28 (100%), 21 (75%) and 18 (64%) patients were positive by TPTest, Tubex and Typhidot, respectively. In healthy endemic zone controls, the TPTest method was negative in all, whereas Tubex and Typhidot were positive in 3 (15%) and 5 (25%), respectively. We then estimated sensitivity and specificity of all diagnostic tests using Bayesian latent class modeling. The sensitivity of TPTest, Tubex and Typhidot were estimated at 96.0% (95% CI: 87.1%-99.8%), 60.2% (95% CI: 49.3%-71.2%), and 59.6% (95% CI: 50.1%-69.3%), respectively. Specificity was estimated at 96.6% (90.7%-99.2%) for TPTest, 89.9% (79.6%-96.8%) for Tubex, and 80.0% (67.7%-89.7%) for Typhidot. These results suggest that the TPTest is highly sensitive and specific in diagnosing individuals with typhoid fever in a typhoid endemic setting, outperforming currently available and commonly used alternatives.

  17. A cross-sectional pilot study of antibiotic resistance in Propionibacterium acnes strains in Indian acne patients using 16s-RNA polymerase chain reaction: A comparison among treatment modalities including antibiotics, benzoyl peroxide, and isotretinoin

    Directory of Open Access Journals (Sweden)

    Kabir Sardana

    2016-01-01

    Full Text Available Background: Antibiotic resistance is a worldwide problem in acne patients due to regional prescription practices, patient compliance, and genomic variability in Propionibacterium acnes, though the effect of treatment on the resistance has not been comprehensively analyzed. Aims: Our primary objective was to assess the level of antibiotic resistance in the Indian patients and to assess whether there was a difference in the resistance across common treatment groups. Subjects and Methods: A cross-sectional, institutional based study was undertaken and three groups of patients were analyzed, treatment naοve, those on antibiotics and patients on benzoyl peroxide (BPO and/isotretinoin. The follicular content was sampled and the culture was verified with 16S rRNA polymerase chain reaction, genomic sequencing, and pulsed-field gel electrophoresis. Minimum inhibitory concentration (MIC assessment was done for erythromycin (ERY, azithromycin (AZI, clindamycin (CL, tetracycline (TET, doxycycline (DOX, minocycline (MINO, and levofloxacin (LEVO. The four groups of patients were compared for any difference in the resistant strains. Results: Of the 52 P. acnes strains isolated (80 patients, high resistance was observed to AZI (100%, ERY (98%, CL (90.4%, DOX (44.2%, and TETs (30.8%. Low resistance was observed to MINO (1.9% and LEVO (9.6%. Statistical difference was seen in the resistance between CL and TETs; DOX/LEVO and DOX/MINO (P < 0.001. High MIC90 (≥256 μg/ml was seen with CL, macrolides, and TETs; moreover, low MIC90 was observed to DOX (16 μg/ml, MINO (8 μg/ml, and LEVO (4 μg/ml. Though the treatment group with isotretinoin/BPO had the least number of resistant strains there was no statistical difference in the antibiotic resistance among the various groups of patients. Conclusions: High resistance was seen among the P. acnes strains to macrolides-lincosamides (AZI and CL while MINO and LEVO resistance was low.

  18. Cross-sectional Pilot Study of Antibiotic Resistance in Propionibacterium Acnes Strains in Indian Acne Patients Using 16S-RNA Polymerase Chain Reaction: A Comparison Among Treatment Modalities Including Antibiotics, Benzoyl Peroxide, and Isotretinoin

    Science.gov (United States)

    Sardana, Kabir; Gupta, Tanvi; Kumar, Bipul; Gautam, Hemant K; Garg, Vijay K

    2016-01-01

    Background: Antibiotic resistance is a worldwide problem in acne patients due to regional prescription practices, patient compliance, and genomic variability in Propionibacterium acnes, though the effect of treatment on the resistance has not been comprehensively analyzed. Aims: Our primary objective was to assess the level of antibiotic resistance in the Indian patients and to assess whether there was a difference in the resistance across common treatment groups. Subjects and Methods: A cross-sectional, institutional based study was undertaken and three groups of patients were analyzed, treatment naïve, those on antibiotics and patients on benzoyl peroxide (BPO) and/isotretinoin. The follicular content was sampled and the culture was verified with 16S rRNA polymerase chain reaction, genomic sequencing, and pulsed-field gel electrophoresis. Minimum inhibitory concentration (MIC) assessment was done for erythromycin (ERY), azithromycin (AZI), clindamycin (CL), tetracycline (TET), doxycycline (DOX), minocycline (MINO), and levofloxacin (LEVO). The four groups of patients were compared for any difference in the resistant strains. Results: Of the 52 P. acnes strains isolated (80 patients), high resistance was observed to AZI (100%), ERY (98%), CL (90.4%), DOX (44.2%), and TETs (30.8%). Low resistance was observed to MINO (1.9%) and LEVO (9.6%). Statistical difference was seen in the resistance between CL and TETs; DOX/LEVO and DOX/MINO (P < 0.001). High MIC90 (≥256 μg/ml) was seen with CL, macrolides, and TETs; moreover, low MIC90 was observed to DOX (16 μg/ml), MINO (8 μg/ml), and LEVO (4 μg/ml). Though the treatment group with isotretinoin/BPO had the least number of resistant strains there was no statistical difference in the antibiotic resistance among the various groups of patients. Conclusions: High resistance was seen among the P. acnes strains to macrolides-lincosamides (AZI and CL) while MINO and LEVO resistance was low. PMID:26955094

  19. Dermatologic surgery on the chest wall in patients with a cardiac surgery history: a review of material that may be encountered intraoperatively, including potential complications and suggestions for proceeding safely

    Directory of Open Access Journals (Sweden)

    Elizabeth Foley Bucher, MD

    2016-03-01

    Results & Conclusion: Dermatologic surgeons should particularly be aware that temporary epicardial pacing wires and pacemaker leads are not uncommonly abandoned in the chest wall of many patients. All patients with a cardiac surgery history should be questioned about possible retained wires. If wire material is encountered intraoperatively, immediately stop the procedure and do not attempt further manipulation of the wire until suggested steps are taken to ascertain the wire type.

  20. The formation and design of 'The Acute Admission Database'- a database including a prospective, observational cohort of 6279 patients triaged in the Emergency Department in a larger Danish hospital

    DEFF Research Database (Denmark)

    Barfod, Charlotte; Lauritzen, Marlene Mp; Danker, Jakob K

    2012-01-01

    to Intensive Care Unit, and mortality within 7 and 28 days after admission. RESULTS: In primary triage, patients were categorized as red (4.4%), orange (25.2%), yellow (38.7%) and green (31.7%). Abnormal vital signs were present at admission in 25% of the patients, most often temperature (10.5%), saturation......ABSTRACT: BACKGROUND: Management and care of the acutely ill patient have improved over the last years due to introduction of systematic assessment and accelerated treatment protocols. We have, however, sparse knowledge of the association between patient status at admission to hospital and patient...... (range 1-123). The proportion of patients admitted to Intensive Care Unit was 1.6% (95% CI 1.2-2.0), 1.8% (95% CI 1.5-2.2) died within 7 days, and 4.2% (95% CI 3.7-4.7) died within 28 days after admission. CONCLUSIONS: Despite challenges of data registration, we succeeded in creating a database...

  1. The Additive Value of Femoral Ultrasound for Subclinical Atherosclerosis Assessment in a Single Center Cohort of 962 Adults, Including High Risk Patients with Rheumatoid Arthritis, Human Immunodeficiency Virus Infection and Type 2 Diabetes Mellitus.

    Directory of Open Access Journals (Sweden)

    Athanasios D Protogerou

    Full Text Available Presence of femoral atheromatic plaques, an emerging cardiovascular disease (CVD biomarker additional to carotid plaques, is poorly investigated in conditions associating with accelerated atherosclerosis such as Rheumatoid Arthritis (RA, Human Immunodeficiency Virus (HIV infection and Type 2 Diabetes Mellitus (T2DM.To assess the frequency of femoral/carotid subclinical atheromatosis phenotypes in RA, HIV and T2DM and search for each disease-specific probability of either femoral and/or carotid subclinical atheromatosis, we examined by ultrasound a single-center cohort of CVD-free individuals comprised of consecutive non-diabetic patients with RA (n=226 and HIV (n=133, T2DM patients (n=109 and non-diabetic individuals with suspected/known hypertension (n=494 who served as reference group.Subclinical atheromatosis--defined as local plaque presence in at least on arterial bed--was diagnosed in 50% of the overall population. Among them, femoral plaques only were found in 25% of either RA or HIV patients, as well as in 16% of T2DM patients and 35% of reference subjects. After adjusting for all classical CVD risk factors, RA and HIV patients had comparable probability to reference group of having femoral plaques, but higher probability (1.75; 1.17-2.63 (odds ratio; 95% confidence intervals, 2.04; 1.14-3.64, respectively of having carotid plaques, whereas T2DM patients had higher probability to have femoral and carotid plaques, albeit, due to their pronounced dyslipidemic profile.RA and HIV accelerate predominantly carotid than femoral. A "two windows" carotid/femoral, rather than carotid alone ultrasound, screening improves substantially subclinical atheromatosis detection in patients at high CVD risk.

  2. Triple malignancy in a single patient including a cervical carcinoma, a basal cell carcinoma of the skin and a neuroendocrine carcinoma from an unknown primary site: A case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Ismaili Nabil

    2011-09-01

    Full Text Available Abstract Introduction The occurrence of multiple primary cancers is rare. Only a few cases and patient reviews of an association of triple malignancy have been reported. Case presentation We report here a case of a 78-year-old Moroccan woman presenting initially with a synchronous double malignancy, the first in her cervix and the second in her skin. Our patient was treated with radiation therapy for both tumors and remained in good control for 17 years, when she developed a metastatic disease from a neuroendocrine carcinoma of an unknown primary site. Conclusions Although the association of multiple primary cancers can be considered a rare occurrence, improving survival in cancer patients has made this situation more frequent.

  3. Hutchinson-Gilford progeria syndrome through the lens of transcription.

    Science.gov (United States)

    Prokocimer, Miron; Barkan, Rachel; Gruenbaum, Yosef

    2013-08-01

    Lamins are nuclear intermediate filaments. In addition to their structural roles, they are implicated in basic nuclear functions such as chromatin organization, DNA replication, transcription, DNA repair, and cell-cycle progression. Mutations in human LMNA gene cause several diseases termed laminopathies. One of the laminopathic diseases is Hutchinson-Gilford progeria syndrome (HGPS), which is caused by a spontaneous mutation and characterized by premature aging. HGPS phenotypes share certain similarities with several apparently comparable medical conditions, such as aging and atherosclerosis, with the conspicuous absence of neuronal degeneration and cancer rarity during the short lifespan of the patients. Cell lines from HGPS patients are characterized by multiple nuclear defects, which include abnormal morphology, altered histone modification patterns, and increased DNA damage. These cell lines provide insight into the molecular pathways including senescence that require lamins A and B1. Here, we review recent data on HGPS phenotypes through the lens of transcriptional deregulation caused by lack of functional lamin A, progerin accumulation, and lamin B1 silencing.

  4. Is It Time to Include CT “Reverse Halo Sign” and qPCR Targeting Mucorales in Serum to EORTC-MSG Criteria for the Diagnosis of Pulmonary Mucormycosis in Leukemia Patients?

    Science.gov (United States)

    Caillot, Denis; Valot, Stéphane; Lafon, Ingrid; Basmaciyan, Louise; Chretien, Marie Lorraine; Sautour, Marc; Million, Laurence; Legouge, Caroline; Payssot, Alexandre; Dalle, Frédéric

    2016-01-01

    In 23 leukemia patients with proven (n = 17) or possible (n = 6) pulmonary mucormycosis (PM), the presence of reversed halo sign on computed tomography was strongly associated with the positivity of quantitative polymerase chain reaction assays targeting Mucorales in the serum, confirming the value of these two tools for the diagnosis of PM in this setting. PMID:28101518

  5. Comparing changes in haematologic parameters occurring in patients included in randomized controlled trials of artesunate-amodiaquine vs single and combination treatments of uncomplicated falciparum in sub-Saharan Africa

    Directory of Open Access Journals (Sweden)

    Zwang Julien

    2012-01-01

    Full Text Available Abstract Background Artesunate-amodiaquine (AS&AQ is a widely used artemisinin combination therapy (ACT for falciparum malaria. A comprehensive appreciation of its effects on haematology vs other anti-malarials is needed in view of potential safety liabilities. Methods Individual-patient data analysis conducted on a database from seven randomized controlled trials conducted in sub-Saharan African comparing AS&AQ to reference treatments in uncomplicated falciparum malaria patients of all ages. Haematologic values (white cells total and neutrophil counts, haemoglobin/haematocrit, platelets were analysed as both continuous and categorical variables for their occurrence, (severity grade 1-4 and changes during follow-up. Risks and trends were calculated using multivariate logistic random effect models. Results 4,502 patients (72% p = 0.001. Multivariate analysis showed that the risk of anaemia, thrombocytopaenia, and leucopaenia decreased with follow-up time, while neutropaenia increased; the risk of anaemia and thrombocytopaenia increased with higher baseline parasitaemia and parasitological reappearance. White cells total count was not a good surrogate for neutropaenia. No systematic significant difference between treatments was detected. Older patients were at lower risks. Conclusion The effects of AS&AQ on haematologic parameters were not different from those of other anti-malarial treatments used in sub-Saharan Africa. This analysis provides the basis for a broader evaluation of haematology following anti-malarial treatment. Continuing monitoring of haematologic safety on larger databases is required.

  6. Musculoskeletal ultrasound including definitions for ultrasonographic pathology

    DEFF Research Database (Denmark)

    Wakefield, RJ; Balint, PV; Szkudlarek, Marcin

    2005-01-01

    Ultrasound (US) has great potential as an outcome in rheumatoid arthritis trials for detecting bone erosions, synovitis, tendon disease, and enthesopathy. It has a number of distinct advantages over magnetic resonance imaging, including good patient tolerability and ability to scan multiple joint...

  7. Multiple Vascular Accidents Including Rupture of a Sinus of Valsalva Aneurysm, a Minor Ischemic Stroke and Intracranial Arterial Anomaly in a Patient with Systemic Congenital Abnormalities: A Case Report

    Directory of Open Access Journals (Sweden)

    Masataka Nakajima

    2013-11-01

    Full Text Available A 39-year-old man with a history of rupture of a sinus of Valsalva aneurysm experienced an ischemic stroke. Although the patient presented left-sided hemiparesis for a week, no abnormal signals were indicated on diffusion-weighted imaging with repeated magnetic resonance scans. Carotid ultrasound and cerebral angiography were conducted, and they revealed hypoplasty of the left internal carotid artery with a low-lying carotid bifurcation at the level of the C6 vertebra. In addition, he was diagnosed with intellectual disabilities, evaluated by the Wechsler Adult Intelligence Scale-III, and congenital velopharyngeal insufficiency. We herein present the first report of a patient with cardio-cerebrovascular abnormalities, intellectual disabilities, and an otorhinolaryngological abnormality.

  8. Impact of integrated upper limb spasticity management including botulinum toxin A on patient-centred goal attainment:rationale and protocol for an international, prospective, longitudinal cohort study (ULIS III)

    OpenAIRE

    Turner-Stokes, Lynne Frances; Ashford, Stephen; Jacinto, Jorge; Maisonobe, Pascal; Balcaitiene, Jovita; Fheodoroff, Klemens

    2016-01-01

    OBJECTIVES: Describe the rationale and protocol for the Upper Limb International Spasticity (ULIS)-III study, which aims to evaluate the impact of integrated spasticity management, involving multiple botulinum toxin A (BoNT-A) injection cycles and concomitant therapies, on patient-centred goal attainment. Outline novel outcome assessment methods for ULIS-III and report initial evaluation data from goal setting in early stages of the study.DESIGN: Large international longitudinal cohort study ...

  9. Obesity Is an Independent Predictor of Poor Survival in Metastatic Breast Cancer: Retrospective Analysis of a Patient Cohort Whose Treatment Included High-Dose Chemotherapy and Autologous Stem Cell Support

    Directory of Open Access Journals (Sweden)

    A. von Drygalski

    2011-01-01

    Full Text Available The purpose of the study was to identify predictors of long-term survival in metastatic breast cancer (MBC. A cohort of 96 patients, who received high-dose chemotherapy with autologous stem cell support (HD-ASCT as part of their treatment, was analyzed. Percent long-term survival at 10 years was 24.5% (CI 17.2–34.9% when metastasis was diagnosed and 14.4% (CI 8.7–23.9% when MBC was diagnosed. Survival was impacted significantly by body mass index (BMI. Median overall survival from initial diagnosis or from time of metastasis for patients with BMIs ≤30 and >30 (obese was 7.1 (CI 4.4–8.7 and 3.2 years (2.41–6.75, respectively, or 3.2 or 2.3 years (all =0.02. Also, obesity was the only independent patient-related predictor of time to metastasis and of survival. While obesity is linked with poor outcomes in earlier stages of breast cancer, this has not been previously reported for MBC.

  10. Dermatologic surgery on the chest wall in patients with a cardiac surgery history: a review of material that may be encountered intraoperatively, including potential complications and suggestions for proceeding safely.

    Science.gov (United States)

    Bucher, Elizabeth Foley; Kim, Andrew; Givan, Jason; Maloney, Mary E

    2016-03-01

    Thoracic surgical procedures and the use of cardiac devices such as pacemakers are becoming increasingly prevalent in the population. As such, dermatologists may have a greater likelihood of encountering previously implanted or abandoned surgical material in the course of dermatologic surgery on the chest wall. A basic understanding of the wire types and the tunneling paths utilized in such procedures is important in accurately anticipating the presence of these wires to effectively manage any chance encounters. We present a review on temporary epicardial pacing wires, temporary transvenous pacing wires, pacemaker leads, and surgical steel sutures in the context of dermatologic surgery. A literature review was performed on frequently used wire material in patients with a history of cardiac surgery as well as related dermatologic complications from these materials. Dermatologic surgeons should particularly be aware that temporary epicardial pacing wires and pacemaker leads are not uncommonly abandoned in the chest wall of many patients. All patients with a cardiac surgery history should be questioned about possible retained wires. If wire material is encountered intraoperatively, immediately stop the procedure and do not attempt further manipulation of the wire until suggested steps are taken to ascertain the wire type.

  11. Pitavastatin and Atorvastatin double-blind randomized comPArative study among hiGh-risk patients, including thOse with Type 2 diabetes mellitus, in Taiwan (PAPAGO-T Study.

    Directory of Open Access Journals (Sweden)

    Ping-Yen Liu

    Full Text Available BACKGROUND: Evidence about the efficacy and safety of statin treatment in high-risk patients with hypercholesterolemia is available for some populations, but not for ethnic Chinese. To test the hypothesis that treatment with pitavastatin (2 mg/day is not inferior to treatment with atorvastatin (10 mg/day for reducing low-density lipoprotein cholesterol (LDL-C, a 12-week multicenter collaborative randomized parallel-group comparative study of high-risk ethnic Chinese patients with hypercholesterolemia was conducted in Taiwan. In addition, the effects on other lipid parameters, inflammatory markers, insulin-resistance-associated biomarkers and safety were evaluated. METHODS AND RESULTS: Between July 2011 and April 2012, 251 patients were screened, 225 (mean age: 58.7 ± 8.6; women 38.2% [86/225] were randomized and treated with pitavastatin (n = 112 or atorvastatin (n = 113 for 12 weeks. Baseline characteristics in both groups were similar, but after 12 weeks of treatment, LDL-C levels were significantly lower: pitavastatin group = -35.0 ± 14.1% and atorvastatin group = -38.4 ± 12.8% (both: p < 0.001. For the subgroup with diabetes mellitus (DM (n = 125, LDL-C levels (-37.1 ± 12.9% vs. -38.0 ± 13.1%, p = 0.62 were similarly lowered after either pitavastatin (n = 63 or atorvastatin (n = 62 treatment. Triglycerides, non-high density lipoprotein cholesterol, and apoprotein B were similarly and significantly lower in both treatment groups. In non-lipid profiles, HOMA-IR and insulin levels were higher to a similar degree in both statin groups. Hemoglobin A1C was significantly (p = 0.001 higher in the atorvastatin group but not in the pitavastatin group. Both statins were well tolerated, and both groups had a similar low incidence of treatment-emergent adverse events. CONCLUSION: Both pitavastatin (2 mg/day and atorvastatin (10 mg/day were well tolerated, lowered LDL-C, and improved the lipid profile to a comparable degree in high-risk Taiwanese

  12. Multiple biomarkers including cardiac troponins T and I measured by high-sensitivity assays, as predictors of long-term mortality in patients with chronic renal failure who underwent dialysis.

    Science.gov (United States)

    Hickman, Peter E; McGill, Darryl; Potter, Julia M; Koerbin, Gus; Apple, Fred S; Talaulikar, Girish

    2015-06-01

    There is a high cardiac mortality in patients on long-term renal dialysis. No studies have reported long-term outcomes relating to both high-sensitivity cardiac troponin T (hs-cTnT) and high-sensitivity cardiac troponin I (hs-cTnI) in these patients. Patients who underwent long-term dialysis at the Canberra Hospital had blood samples collected for both cardiac and other biomarkers. Samples were stored at -80°C until analysis. Mortality data were collected at 5 years, and univariate and multivariate analyses were performed to identify which biomarkers were predictive of mortality at 5 years. After multivariate analysis, albumin, C-reactive protein (CRP), and hs-cTnT remained independently predictive of all-cause mortality, with hs-cTnT having the highest hazard ratio. If hs-cTnT was excluded from the analysis, then hs-cTnI was independently predictive of mortality. For hs-cTnT, for both genders, the ninety-ninth percentile, derived from a population with subjects with subclinical disease excluded, served as an excellent partition between survivors and nonsurvivors. Receiver-operating characteristic curve analysis for hs-cTnT had area under the curve of 0.798 and for hs-cTnI of 0.774. Kaplan-Meier curves for the aggregation of albumin, CRP, and hs-cTnT showed a stronger predictive power with receiver-operating characteristic area under the curve of 0.805. The addition of echocardiographic data in an analysis of all patients who had an echocardiogram for clinical reasons (n = 105) did not alter the final observations in this subgroup. In conclusion, hs-cTnT retains a superior predictive power in a dialysis-dependent population for identifying those at risk for death and when aggregated with albumin and CRP also has substantial additive value for identifying mortality risk in a renal-dialysis population.

  13. Musculoskeletal ultrasound including definitions for ultrasonographic pathology

    DEFF Research Database (Denmark)

    Wakefield, RJ; Balint, PV; Szkudlarek, Marcin

    2005-01-01

    Ultrasound (US) has great potential as an outcome in rheumatoid arthritis trials for detecting bone erosions, synovitis, tendon disease, and enthesopathy. It has a number of distinct advantages over magnetic resonance imaging, including good patient tolerability and ability to scan multiple joints...... pathologies. This article presents the first report from the OMERACT ultrasound special interest group, which has compared US against the criteria of the OMERACT filter. Also proposed for the first time are consensus US definitions for common pathological lesions seen in patients with inflammatory arthritis....

  14. Theory including future not excluded

    DEFF Research Database (Denmark)

    Nagao, K.; Nielsen, H.B.

    2013-01-01

    We study a complex action theory (CAT) whose path runs over not only past but also future. We show that, if we regard a matrix element defined in terms of the future state at time T and the past state at time TA as an expectation value in the CAT, then we are allowed to have the Heisenberg equation......, Ehrenfest's theorem, and the conserved probability current density. In addition,we showthat the expectation value at the present time t of a future-included theory for large T - t and large t - T corresponds to that of a future-not-included theory with a proper inner product for large t - T. Hence, the CAT...

  15. Biodiversity conservation including uncharismatic species

    DEFF Research Database (Denmark)

    Muñoz, Joaquin

    2007-01-01

    Recent papers mention ideas on the topics of biodiversity conservation strategies and priorities (Redford et al. 2003; Lamoreux et al. 2006; Rodrı´guez et al. 2006), the current status of biodiversity (Loreau et al. 2006), the obligations of conservation biologists regarding management policies...... (Chapron 2006; Schwartz 2006), and the main threats to biodiversity (including invasive species) (Bawa 2006). I suggest, however, that these articles do not really deal with biodiversity. Rather, they all focus on a few obviously charismatic groups (mammals, birds, some plants, fishes, human culture...

  16. FLUXNET2015 Dataset: Batteries included

    Science.gov (United States)

    Pastorello, G.; Papale, D.; Agarwal, D.; Trotta, C.; Chu, H.; Canfora, E.; Torn, M. S.; Baldocchi, D. D.

    2016-12-01

    The synthesis datasets have become one of the signature products of the FLUXNET global network. They are composed from contributions of individual site teams to regional networks, being then compiled into uniform data products - now used in a wide variety of research efforts: from plant-scale microbiology to global-scale climate change. The FLUXNET Marconi Dataset in 2000 was the first in the series, followed by the FLUXNET LaThuile Dataset in 2007, with significant additions of data products and coverage, solidifying the adoption of the datasets as a research tool. The FLUXNET2015 Dataset counts with another round of substantial improvements, including extended quality control processes and checks, use of downscaled reanalysis data for filling long gaps in micrometeorological variables, multiple methods for USTAR threshold estimation and flux partitioning, and uncertainty estimates - all of which accompanied by auxiliary flags. This "batteries included" approach provides a lot of information for someone who wants to explore the data (and the processing methods) in detail. This inevitably leads to a large number of data variables. Although dealing with all these variables might seem overwhelming at first, especially to someone looking at eddy covariance data for the first time, there is method to our madness. In this work we describe the data products and variables that are part of the FLUXNET2015 Dataset, and the rationale behind the organization of the dataset, covering the simplified version (labeled SUBSET), the complete version (labeled FULLSET), and the auxiliary products in the dataset.

  17. Molecular insights into the premature aging disease progeria.

    Science.gov (United States)

    Vidak, Sandra; Foisner, Roland

    2016-04-01

    Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare premature aging disease presenting many features resembling the normal aging process. HGPS patients die before the age of 20 years due to cardiovascular problems and heart failure. HGPS is linked to mutations in the LMNA gene encoding the intermediate filament protein lamin A. Lamin A is a major component of the nuclear lamina, a scaffold structure at the nuclear envelope that defines mechanochemical properties of the nucleus and is involved in chromatin organization and epigenetic regulation. Lamin A is also present in the nuclear interior where it fulfills lamina-independent functions in cell signaling and gene regulation. The most common LMNA mutation linked to HGPS leads to mis-splicing of the LMNA mRNA and produces a mutant lamin A protein called progerin that tightly associates with the inner nuclear membrane and affects the dynamic properties of lamins. Progerin expression impairs many important cellular processes providing insight into potential disease mechanisms. These include changes in mechanosignaling, altered chromatin organization and impaired genome stability, and changes in signaling pathways, leading to impaired regulation of adult stem cells, defective extracellular matrix production and premature cell senescence. In this review, we discuss these pathways and their potential contribution to the disease pathologies as well as therapeutic approaches used in preclinical and clinical tests.

  18. Physician Rating Websites: What Aspects Are Important to Identify a Good Doctor, and Are Patients Capable of Assessing Them? A Mixed-Methods Approach Including Physicians’ and Health Care Consumers’ Perspectives

    Science.gov (United States)

    Schulz, Peter J

    2017-01-01

    Background Physician rating websites (PRWs) offer health care consumers the opportunity to evaluate their doctor anonymously. However, physicians’ professional training and experience create a vast knowledge gap in medical matters between physicians and patients. This raises ethical concerns about the relevance and significance of health care consumers’ evaluation of physicians’ performance. Objective To identify the aspects physician rating websites should offer for evaluation, this study investigated the aspects of physicians and their practice relevant for identifying a good doctor, and whether health care consumers are capable of evaluating these aspects. Methods In a first step, a Delphi study with physicians from 4 specializations was conducted, testing various indicators to identify a good physician. These indicators were theoretically derived from Donabedian, who classifies quality in health care into pillars of structure, process, and outcome. In a second step, a cross-sectional survey with health care consumers in Switzerland (N=211) was launched based on the indicators developed in the Delphi study. Participants were asked to rate the importance of these indicators to identify a good physician and whether they would feel capable to evaluate those aspects after the first visit to a physician. All indicators were ordered into a 4×4 grid based on evaluation and importance, as judged by the physicians and health care consumers. Agreement between the physicians and health care consumers was calculated applying Holsti’s method. Results In the majority of aspects, physicians and health care consumers agreed on what facets of care were important and not important to identify a good physician and whether patients were able to evaluate them, yielding a level of agreement of 74.3%. The two parties agreed that the infrastructure, staff, organization, and interpersonal skills are both important for a good physician and can be evaluated by health care

  19. Physician Rating Websites: What Aspects Are Important to Identify a Good Doctor, and Are Patients Capable of Assessing Them? A Mixed-Methods Approach Including Physicians' and Health Care Consumers' Perspectives.

    Science.gov (United States)

    Rothenfluh, Fabia; Schulz, Peter J

    2017-05-01

    Physician rating websites (PRWs) offer health care consumers the opportunity to evaluate their doctor anonymously. However, physicians' professional training and experience create a vast knowledge gap in medical matters between physicians and patients. This raises ethical concerns about the relevance and significance of health care consumers' evaluation of physicians' performance. To identify the aspects physician rating websites should offer for evaluation, this study investigated the aspects of physicians and their practice relevant for identifying a good doctor, and whether health care consumers are capable of evaluating these aspects. In a first step, a Delphi study with physicians from 4 specializations was conducted, testing various indicators to identify a good physician. These indicators were theoretically derived from Donabedian, who classifies quality in health care into pillars of structure, process, and outcome. In a second step, a cross-sectional survey with health care consumers in Switzerland (N=211) was launched based on the indicators developed in the Delphi study. Participants were asked to rate the importance of these indicators to identify a good physician and whether they would feel capable to evaluate those aspects after the first visit to a physician. All indicators were ordered into a 4×4 grid based on evaluation and importance, as judged by the physicians and health care consumers. Agreement between the physicians and health care consumers was calculated applying Holsti's method. In the majority of aspects, physicians and health care consumers agreed on what facets of care were important and not important to identify a good physician and whether patients were able to evaluate them, yielding a level of agreement of 74.3%. The two parties agreed that the infrastructure, staff, organization, and interpersonal skills are both important for a good physician and can be evaluated by health care consumers. Technical skills of a doctor and outcomes

  20. Families classification including multiopposition asteroids

    Science.gov (United States)

    Milani, Andrea; Spoto, Federica; Knežević, Zoran; Novaković, Bojan; Tsirvoulis, Georgios

    2016-01-01

    In this paper we present the results of our new classification of asteroid families, upgraded by using catalog with > 500,000 asteroids. We discuss the outcome of the most recent update of the family list and of their membership. We found enough evidence to perform 9 mergers of the previously independent families. By introducing an improved method of estimation of the expected family growth in the less populous regions (e.g. at high inclination) we were able to reliably decide on rejection of one tiny group as a probable statistical fluke. Thus we reduced our current list to 115 families. We also present newly determined ages for 6 families, including complex 135 and 221, improving also our understanding of the dynamical vs. collisional families relationship. We conclude with some recommendations for the future work and for the family name problem.

  1. Patients with neuromyelitis optica have a more severe disease than patients with relapsingremitting multiple sclerosis, including higher risk of dying of a demyelinating disease Pacientes com neuromielite óptica apresentam doença mais incapacitante que pacientes com esclerose múltipla, incluindo maior chance de falecerem de uma doença desmielinizante

    Directory of Open Access Journals (Sweden)

    Denis Bernardi Bichuetti

    2013-05-01

    Full Text Available Although neuromyelitis optica (NMO is known to be a more severe disease than relapsing-remitting multiple sclerosis (RRMS, few studies comparing both conditions in a single center have been done. Methods: Comparison of our previously published cohort of 41 NMO patients with 177 RRMS patients followed in the same center, from 1994 to 2007. Results: Mean age of onset was 32.6 for NMO and 30.2 for RRMS (p=0.2062 with mean disease duration of 7.4 years for NMO and 10.3 years for RRMS. Patients with NMO had a higher annualized relapse rate (1.0 versus 0.8, p=0.0013 and progression index (0.9 versus 0.6, p≪0.0001, with more patients reaching expanded disability status scale (EDSS 6.0 (39 versus 17%, p=0.0036. The odds ratio for reaching EDSS 6.0 and being deceased due to NMO in comparison to RRMS were, respectively, 3.14 and 12.15. Conclusion: Patients with NMO have a more severe disease than patients with RRMS, including higher risk of dying of a demyelinating disease.Embora a neuromielite óptica (NMO seja reconhecida como mais grave que a esclerose múltipla remitente recorrente (EMRR, existem poucos estudos comparando as duas doenças em um único centro. Métodos: Comparação de nossa coorte publicada de 41 pacientes com NMO com 177 pacientes com EMRR seguidos no mesmo centro, de 1994 a 2007. Resultados: A média de idade inicial foi de 32,6 anos em NMO e 30,2 anos em EMRR (p=0,2062, com tempo médio de doença de 7,4 anos para NMO e 10,3 anos EMRR. Pacientes com NMO apresentaram maior taxa anualizada de surtos (1,0 versus 0,8, p=0,0013 e índice de progressão (0,9 versus 0,6, p≪0,0001, com mais pacientes atingindo EDSS 6,0 (39 versus 17%, p=0,0036. Os riscos relativos de se alcançar 6,0 EDSS e falecer em decorrência de NMO em comparação com EMRR, foram, respectivamente, 3,14 e 12,15. Conclusão: Pacientes com NMO têm uma doença mais grave do que os pacientes com EMRR, incluindo maior risco de morrer de uma doença desmielinizante.

  2. Including Magnetostriction in Micromagnetic Models

    Science.gov (United States)

    Conbhuí, Pádraig Ó.; Williams, Wyn; Fabian, Karl; Nagy, Lesleis

    2016-04-01

    The magnetic anomalies that identify crustal spreading are predominantly recorded by basalts formed at the mid-ocean ridges, whose magnetic signals are dominated by iron-titanium-oxides (Fe3-xTixO4), so called "titanomagnetites", of which the Fe2.4Ti0.6O4 (TM60) phase is the most common. With sufficient quantities of titanium present, these minerals exhibit strong magnetostriction. To date, models of these grains in the pseudo-single domain (PSD) range have failed to accurately account for this effect. In particular, a popular analytic treatment provided by Kittel (1949) for describing the magnetostrictive energy as an effective increase of the anisotropy constant can produce unphysical strains for non-uniform magnetizations. I will present a rigorous approach based on work by Brown (1966) and by Kroner (1958) for including magnetostriction in micromagnetic codes which is suitable for modelling hysteresis loops and finding remanent states in the PSD regime. Preliminary results suggest the more rigorously defined micromagnetic models exhibit higher coercivities and extended single domain ranges when compared to more simplistic approaches.

  3. A prospective randomized trial: a comparison of the analgesic effect and toxicity of 153Sm radioisotope treatment in monotherapy and combined therapy including local external beam radiotherapy (EBRT) among metastatic castrate resistance prostate cancer (mCRPC) patients with painful bone metastases.

    Science.gov (United States)

    Baczyk, M; Milecki, P; Pisarek, M; Gut, P; Antczak, A; Hrab, M

    2013-01-01

    Bone metastases in prostate cancer constitute the most frequent cause of systemic failure in treatment, which results in numerous complications and finally leads to patient's death. Pain is one of the first and most important clinical symptoms of bone metastases and can be found among more than 80% of patients. Therefore, the most analgetic effective and simultaneously the least toxic treatment is an important point of therapeutic management in this group of patients. The aim of this prospective clinical trial was a comparison of analgetic effectiveness and toxicity of monotherapy with 153Sm isotope to combined therapy (153Sm + EBRT) among patients diagnosed with multiple painful bone metastases due to CRPC (mCRPC). 177 patients with mCRPC were included into the prospective randomised clinical trial in which 89 patients were assigned to the 153Sm isotope monotherapy, while 88 patients were assigned to the combined therapy including 153Sm isotope therapy and EBRT. All patients were diagnosed (bone scan and X-ray or/and CT or/and MRI) with painful bone metastases (bone pain intensity >= 6 according to VAS classification). The following additional inclusion criteria were established: histologically confirmed adenocarcinoma of prostate, multifocal bone metastases, no prior chemotherapy or palliative radiotherapy to bone. All patients signed informed consent.The combination of the isotope therapy with EBRT was more effective analgetic treatment than isotope therapy alone. The highest pain decline was noticed in the first weeks after treatment termination. In the whole group, a total or partial analgesic effect was observed among 154 (87%) patients while among 23 (13%) patients there was a lack of analgesic effect or even pain intensification. The results of this clinical trial demonstrated that for patients with multiple mCRPC it is recommended to combine the 153Sm isotope therapy with local EBRT because of a greater analgetic effect. It is important to note that

  4. Naïve adult stem cells from patients with Hutchinson-Gilford progeria syndrome express low levels of progerin in vivo

    Science.gov (United States)

    Wenzel, Vera; Roedl, Daniela; Gabriel, Diana; Gordon, Leslie B.; Herlyn, Meenhard; Schneider, Reinhard; Ring, Johannes; Djabali, Karima

    2012-01-01

    Summary Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670) is a rare disorder characterized by segmental accelerated aging and early death from coronary artery disease or stroke. Nearly 90% of HGPS sufferers carry a G608G mutation within exon 11 of LMNA, producing a truncated form of prelamin A, referred to as “progerin”. Here, we report the isolation of naïve multipotent skin-derived precursor (SKP) cells from dermal fibroblast cultures from HGPS donors. These cells form spheres and express the neural crest marker, nestin, in addition to the multipotent markers, OCT4, Sox2, Nanog and TG30; these cells can self-renew and differentiate into smooth muscle cells (SMCs) and fibroblasts. The SMCs derived from the HGPS-SKPs accumulate nuclear progerin with increasing passages. A subset of the HGPS-naïve SKPs express progerin in vitro and in situ in HGPS skin sections. This is the first in vivo evidence that progerin is produced in adult stem cells, and implies that this protein could induce stem cells exhaustion as a mechanism contributing to aging. Our study provides a basis on which to explore therapeutic applications for HGPS stem cells and opens avenues for investigating the pathogenesis of other genetic diseases. PMID:23213444

  5. Naïve adult stem cells from patients with Hutchinson-Gilford progeria syndrome express low levels of progerin in vivo

    Directory of Open Access Journals (Sweden)

    Vera Wenzel

    2012-04-01

    Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670 is a rare disorder characterized by segmental accelerated aging and early death from coronary artery disease or stroke. Nearly 90% of HGPS sufferers carry a G608G mutation within exon 11 of LMNA, producing a truncated form of prelamin A, referred to as “progerin”. Here, we report the isolation of naïve multipotent skin-derived precursor (SKP cells from dermal fibroblast cultures from HGPS donors. These cells form spheres and express the neural crest marker, nestin, in addition to the multipotent markers, OCT4, Sox2, Nanog and TG30; these cells can self-renew and differentiate into smooth muscle cells (SMCs and fibroblasts. The SMCs derived from the HGPS-SKPs accumulate nuclear progerin with increasing passages. A subset of the HGPS-naïve SKPs express progerin in vitro and in situ in HGPS skin sections. This is the first in vivo evidence that progerin is produced in adult stem cells, and implies that this protein could induce stem cells exhaustion as a mechanism contributing to aging. Our study provides a basis on which to explore therapeutic applications for HGPS stem cells and opens avenues for investigating the pathogenesis of other genetic diseases.

  6. Opioid dependence treatment, including buprenorphine/naloxone.

    Science.gov (United States)

    Raisch, Dennis W; Fye, Carol L; Boardman, Kathy D; Sather, Mike R

    2002-02-01

    To review opioid dependence (OD) and its treatment. Pharmacologic treatments, including the use of buprenorphine/naloxone, are presented. Pharmaceutical care functions for outpatient OD treatment are discussed. Primary and review articles were identified by MEDLINE and HEALTHSTAR searches (from 1966 to November 2000) and through secondary sources. Tertiary sources were also reviewed regarding general concepts of OD and its treatment. Relevant articles were reviewed after identification from published abstracts. Articles were selected based on the objectives for this article. Studies of the treatment of OD with buprenorphine were selected based on the topic (pharmacology, pharmacokinetics, adverse reactions) and study design (randomized, controlled clinical trials in patients with OD with active/placebo comparisons and/or comparisons of active OD treatments). Articles regarding pharmacists' activities in the treatment and prevention of OD were reviewed for the pharmaceutical care section. OD is considered a medical disorder with costly adverse health outcomes. Although methadone maintenance treatment (MMT) is cost-effective for OD, only about 12% of individuals with OD receive this treatment. Psychological and pharmacologic modalities are used to treat OD, but patients often relapse. Drug therapy includes alpha 2-agonists for withdrawal symptoms, detoxification regimens with or without opioids, opioid antagonists, and opioid replacement including methadone, levomethadyl acetate, and buprenorphine. The Drug Addiction Treatment Act of 1999 allows for office-based opioid replacement therapies. Sublingual buprenorphine with naloxone can be used in this milieu. Buprenorphine with naloxone is currently under new drug application review with the Food and Drug Administration. Clinical research shows buprenorphine to be equal in effectiveness to methadone, but safer in overdose due to its ceiling effect on respiratory depression. It has lower abuse potential and fewer

  7. Deliverable 6.2 - Software: upgraded MC simulation tools capable of simulating a complete in-beam ET experiment, from the beam to the detected events. Report with the description of one (or few) reference clinical case(s), including the complete patient model and beam characteristics

    CERN Document Server

    The ENVISION Collaboration

    2014-01-01

    Deliverable 6.2 - Software: upgraded MC simulation tools capable of simulating a complete in-beam ET experiment, from the beam to the detected events. Report with the description of one (or few) reference clinical case(s), including the complete patient model and beam characteristics

  8. Sulforaphane enhances progerin clearance in Hutchinson–Gilford progeria fibroblasts

    Science.gov (United States)

    Gabriel, Diana; Roedl, Daniela; Gordon, Leslie B; Djabali, Karima

    2015-01-01

    Hutchinson–Gilford progeria syndrome (HGPS, OMIM 176670) is a rare multisystem childhood premature aging disorder linked to mutations in the LMNA gene. The most common HGPS mutation is found at position G608G within exon 11 of the LMNA gene. This mutation results in the deletion of 50 amino acids at the carboxyl-terminal tail of prelamin A, and the truncated protein is called progerin. Progerin only undergoes a subset of the normal post-translational modifications and remains permanently farnesylated. Several attempts to rescue the normal cellular phenotype with farnesyltransferase inhibitors (FTIs) and other compounds have resulted in partial cellular recovery. Using proteomics, we report here that progerin induces changes in the composition of the HGPS nuclear proteome, including alterations to several components of the protein degradation pathways. Consequently, proteasome activity and autophagy are impaired in HGPS cells. To restore protein clearance in HGPS cells, we treated HGPS cultures with sulforaphane (SFN), an antioxidant derived from cruciferous vegetables. We determined that SFN stimulates proteasome activity and autophagy in normal and HGPS fibroblast cultures. Specifically, SFN enhances progerin clearance by autophagy and reverses the phenotypic changes that are the hallmarks of HGPS. Therefore, SFN is a promising therapeutic avenue for children with HGPS. PMID:25510262

  9. Sulforaphane enhances progerin clearance in Hutchinson-Gilford progeria fibroblasts.

    Science.gov (United States)

    Gabriel, Diana; Roedl, Daniela; Gordon, Leslie B; Djabali, Karima

    2015-02-01

    Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670) is a rare multisystem childhood premature aging disorder linked to mutations in the LMNA gene. The most common HGPS mutation is found at position G608G within exon 11 of the LMNA gene. This mutation results in the deletion of 50 amino acids at the carboxyl-terminal tail of prelamin A, and the truncated protein is called progerin. Progerin only undergoes a subset of the normal post-translational modifications and remains permanently farnesylated. Several attempts to rescue the normal cellular phenotype with farnesyltransferase inhibitors (FTIs) and other compounds have resulted in partial cellular recovery. Using proteomics, we report here that progerin induces changes in the composition of the HGPS nuclear proteome, including alterations to several components of the protein degradation pathways. Consequently, proteasome activity and autophagy are impaired in HGPS cells. To restore protein clearance in HGPS cells, we treated HGPS cultures with sulforaphane (SFN), an antioxidant derived from cruciferous vegetables. We determined that SFN stimulates proteasome activity and autophagy in normal and HGPS fibroblast cultures. Specifically, SFN enhances progerin clearance by autophagy and reverses the phenotypic changes that are the hallmarks of HGPS. Therefore, SFN is a promising therapeutic avenue for children with HGPS.

  10. Patients

    African Journals Online (AJOL)

    Items 1 - 7 ... Results: The mean age for patient group is 65.6 years while for controls it is 30.3 years. ... result in large number of population in old ages ... Originally the American Urological Asso- .... age distribution and study results in this study.

  11. Estimation of vessel age and early diagnose of atherosclerosis in progeria syndrome by using echo-tracking.

    Science.gov (United States)

    Várady, E; Feher, E; Levai, A; Battyany, I

    2010-01-01

    The stiffness of the arteries normally increases with age. Radiofrequency echo-tracking is a non-invasive ultrasound method which is able to detect the stiffness of the arteries, represented by the beta stiffness index. The estimation of biological age of vessels is possible on the basis of the normal age-group specific beta stiffness values. The beta stiffness index becomes higher in early stages of atherosclerosis as well, before any visible morphological changes. Hutchinson-Gilford progeria syndrome (HGPS) is rare genetic disorder resulting in accelerated aging including appearance of progressive atherosclerosis at an early age which determines the quality and term of life of these patients. Determination of vascular age and early diagnosis of atherosclerosis seems crucial. According to our knowledge, the estimation of vascular age detected with radiofrequency echo-tracking in HGPS patients, in contrast to the normal age-specific beta stiffness values, has not been published yet.

  12. General Information about Plasma Cell Neoplasms (Including Multiple Myeloma)

    Science.gov (United States)

    ... Cell Neoplasms Treatment Research Plasma Cell Neoplasms (Including Multiple Myeloma) Treatment (PDQ®)–Patient Version General Information About Plasma ... the throat can make it hard to swallow. Multiple myeloma In multiple myeloma , abnormal plasma cells ( myeloma cells ) ...

  13. Stages of Plasma Cell Neoplasms (Including Multiple Myeloma)

    Science.gov (United States)

    ... Cell Neoplasms Treatment Research Plasma Cell Neoplasms (Including Multiple Myeloma) Treatment (PDQ®)–Patient Version General Information About Plasma ... the throat can make it hard to swallow. Multiple myeloma In multiple myeloma , abnormal plasma cells ( myeloma cells ) ...

  14. Treatment Options for Plasma Cell Neoplasms (Including Multiple Myeloma)

    Science.gov (United States)

    ... Cell Neoplasms Treatment Research Plasma Cell Neoplasms (Including Multiple Myeloma) Treatment (PDQ®)–Patient Version General Information About Plasma ... the throat can make it hard to swallow. Multiple myeloma In multiple myeloma , abnormal plasma cells ( myeloma cells ) ...

  15. Treatment Option Overview (Plasma Cell Neoplasms Including Multiple Myeloma)

    Science.gov (United States)

    ... Cell Neoplasms Treatment Research Plasma Cell Neoplasms (Including Multiple Myeloma) Treatment (PDQ®)–Patient Version General Information About Plasma ... the throat can make it hard to swallow. Multiple myeloma In multiple myeloma , abnormal plasma cells ( myeloma cells ) ...

  16. Imaging of axial spondyloarthritis including ankylosing spondylitis.

    Science.gov (United States)

    Braun, J; Baraliakos, X

    2011-03-01

    New bone formation of the vertebral column is pathognomonic for ankylosing spondylitis (AS), while acute and/or chronic changes in the sacroiliac joints are relevant for diagnosis. The 'gold standard' for assessment of structural changes in AS are conventional radiographs, while MRI is useful to assess inflammation. Recent MRI studies have shown that the lower half of the thoracic spine is most commonly affected in AS. Scoring tools for spinal inflammation such as the ASspiMRI-a have been proposed, successfully used in large clinical trials and compared in a multireader experiment; none was finally preferred by OMERACT. Quantification of structural spinal AS changes is performed by the modified Stokes AS Spine Score (mSASSS), which evaluates lateral cervical and lumbar radiographs. Two years was identified as the shortest possible follow-up time based on the reliability and sensitivity to change of the mSASSS. A potential disadvantage of the mSASSS is that the thoracic spine is not included. Recent data based on the mSASSS have suggested that tumour necrosis factor blockers do not inhibit radiographic progression in AS. Since the mean radiographic change is reported to be less than 1 syndesmophyte over 2 years, the sensitivity to change of the mSASSS has been questioned. However, in one study where continuous non-steroidal anti-inflammatory drugs use was compared with on-demand use, a difference between these two methods of drug intake was reported. The face and construct validity of the mSASSS has been criticised because a score of ´1´ contains a mixture of osteodestructive (erosions) and osteoproliferative changes (squaring and sclerosis). A new scoring system, the RASSS, which concentrates only on bone formation and which includes the lower part of the thoracic spine is currently being evaluated. The relationship between inflammation and new bone formation in AS has recently been investigated. Low sclerostin and DKK-1 serum levels, both inhibitors of bone

  17. Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson–Gilford progeria syndrome

    Science.gov (United States)

    Gordon, Leslie B.; Kleinman, Monica E.; Miller, David T.; Neuberg, Donna S.; Giobbie-Hurder, Anita; Gerhard-Herman, Marie; Smoot, Leslie B.; Gordon, Catherine M.; Cleveland, Robert; Snyder, Brian D.; Fligor, Brian; Bishop, W. Robert; Statkevich, Paul; Regen, Amy; Sonis, Andrew; Riley, Susan; Ploski, Christine; Correia, Annette; Quinn, Nicolle; Ullrich, Nicole J.; Nazarian, Ara; Liang, Marilyn G.; Huh, Susanna Y.; Schwartzman, Armin; Kieran, Mark W.

    2012-01-01

    Hutchinson–Gilford progeria syndrome (HGPS) is an extremely rare, fatal, segmental premature aging syndrome caused by a mutation in LMNA that produces the farnesylated aberrant lamin A protein, progerin. This multisystem disorder causes failure to thrive and accelerated atherosclerosis leading to early death. Farnesyltransferase inhibitors have ameliorated disease phenotypes in preclinical studies. Twenty-five patients with HGPS received the farnesyltransferase inhibitor lonafarnib for a minimum of 2 y. Primary outcome success was predefined as a 50% increase over pretherapy in estimated annual rate of weight gain, or change from pretherapy weight loss to statistically significant on-study weight gain. Nine patients experienced a ≥50% increase, six experienced a ≥50% decrease, and 10 remained stable with respect to rate of weight gain. Secondary outcomes included decreases in arterial pulse wave velocity and carotid artery echodensity and increases in skeletal rigidity and sensorineural hearing within patient subgroups. All patients improved in one or more of these outcomes. Results from this clinical treatment trial for children with HGPS provide preliminary evidence that lonafarnib may improve vascular stiffness, bone structure, and audiological status. PMID:23012407

  18. Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome.

    Science.gov (United States)

    Gordon, Leslie B; Kleinman, Monica E; Miller, David T; Neuberg, Donna S; Giobbie-Hurder, Anita; Gerhard-Herman, Marie; Smoot, Leslie B; Gordon, Catherine M; Cleveland, Robert; Snyder, Brian D; Fligor, Brian; Bishop, W Robert; Statkevich, Paul; Regen, Amy; Sonis, Andrew; Riley, Susan; Ploski, Christine; Correia, Annette; Quinn, Nicolle; Ullrich, Nicole J; Nazarian, Ara; Liang, Marilyn G; Huh, Susanna Y; Schwartzman, Armin; Kieran, Mark W

    2012-10-09

    Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare, fatal, segmental premature aging syndrome caused by a mutation in LMNA that produces the farnesylated aberrant lamin A protein, progerin. This multisystem disorder causes failure to thrive and accelerated atherosclerosis leading to early death. Farnesyltransferase inhibitors have ameliorated disease phenotypes in preclinical studies. Twenty-five patients with HGPS received the farnesyltransferase inhibitor lonafarnib for a minimum of 2 y. Primary outcome success was predefined as a 50% increase over pretherapy in estimated annual rate of weight gain, or change from pretherapy weight loss to statistically significant on-study weight gain. Nine patients experienced a ≥50% increase, six experienced a ≥50% decrease, and 10 remained stable with respect to rate of weight gain. Secondary outcomes included decreases in arterial pulse wave velocity and carotid artery echodensity and increases in skeletal rigidity and sensorineural hearing within patient subgroups. All patients improved in one or more of these outcomes. Results from this clinical treatment trial for children with HGPS provide preliminary evidence that lonafarnib may improve vascular stiffness, bone structure, and audiological status.

  19. Speeding up the clock: The past, present and future of progeria.

    Science.gov (United States)

    Swahari, Vijay; Nakamura, Ayumi

    2016-01-01

    Progeria is a devastating disorder in which patients exhibit signs of premature aging. The most well-known progeroid syndromes include Hutchinson-Gilford Progeria Syndrome (HGPS) and Werner Syndrome (WS). While HGPS and WS are rare, they often result in severe age-associated complications starting in the early developmental period or after the pubertal growth spurt during adolescence, respectively. In addition, patients with HGPS ultimately die of diseases normally seen in the elderly population, with stroke and myocardial infarction as the leading causes of death. Many WS patients develop similar cardiovascular complications but also have an increased predisposition to developing multiple rare malignancies. These premature aging disorders, as well as animal and cell culture models that recapitulate these diseases, have provided insight into the genetics and cellular pathways that underlie these human conditions and have also uncovered possible mechanisms behind normal aging. Here we discuss the history, the types of progeria, and the various pathophysiological mechanisms that drive these diseases. We also address recent medical advances and treatment modalities for patients with progeria.

  20. Craniofacial abnormalities in Hutchinson-Gilford progeria syndrome.

    Science.gov (United States)

    Ullrich, N J; Silvera, V M; Campbell, S E; Gordon, L B

    2012-09-01

    HGPS is a rare syndrome of segmental premature aging. Our goal was to expand the scope of structural bone and soft-tissue craniofacial abnormalities in HGPS through CT or MR imaging. Using The Progeria Research Foundation Medical and Research Database, 98 imaging studies on 25 patients, birth to 14.1 years of age, were comprehensively reviewed. Eight newly identified abnormalities involving the calvaria, skull base, and soft tissues of the face and orbits were present with prevalences between 43% and 100%. These included J-shaped sellas, a mottled appearance and increased vascular markings of the calvaria, abnormally configured mandibular condyles, hypoplastic articular eminences, small zygomatic arches, prominent parotid glands, and optic nerve kinking. This expanded craniofacial characterization helps link disease features and improves our ability to evaluate how underlying genetic and cellular abnormalities culminate in a disease phenotype.

  1. Haemophilus influenzae Disease (Including Hib) Symptoms

    Science.gov (United States)

    ... Search The CDC Cancel Submit Search The CDC Haemophilus influenzae Disease (Including Hib) Note: Javascript is disabled or ... and Symptoms Recommend on Facebook Tweet Share Compartir Haemophilus influenzae , including Hib, disease causes different symptoms depending on ...

  2. Article Including Environmental Barrier Coating System

    Science.gov (United States)

    Lee, Kang N. (Inventor)

    2015-01-01

    An enhanced environmental barrier coating for a silicon containing substrate. The enhanced barrier coating may include a bond coat doped with at least one of an alkali metal oxide and an alkali earth metal oxide. The enhanced barrier coating may include a composite mullite bond coat including BSAS and another distinct second phase oxide applied over said surface.

  3. Static, Lightweight Includes Resolution for PHP

    NARCIS (Netherlands)

    Hills, M.A.; Klint, P.; Vinju, J.J.

    2014-01-01

    Dynamic languages include a number of features that are challenging to model properly in static analysis tools. In PHP, one of these features is the include expression, where an arbitrary expression provides the path of the file to include at runtime. In this paper we present two complementary analy

  4. A Framework for Including Family Health Spillovers in Economic Evaluation.

    Science.gov (United States)

    Al-Janabi, Hareth; van Exel, Job; Brouwer, Werner; Coast, Joanna

    2016-02-01

    Health care interventions may affect the health of patients' family networks. It has been suggested that these "health spillovers" should be included in economic evaluation, but there is not a systematic method for doing this. In this article, we develop a framework for including health spillovers in economic evaluation. We focus on extra-welfarist economic evaluations where the objective is to maximize health benefits from a health care budget (the "health care perspective"). Our framework involves adapting the conventional cost-effectiveness decision rule to include 2 multiplier effects to internalize the spillover effects. These multiplier effects express the ratio of total health effects (for patients and their family networks) to patient health effects. One multiplier effect is specified for health benefit generated from providing a new intervention, one for health benefit displaced by funding this intervention. We show that using multiplier effects to internalize health spillovers could change the optimal funding decisions and generate additional health benefits to society.

  5. An inherited LMNA gene mutation in atypical Progeria syndrome.

    Science.gov (United States)

    Doubaj, Yassamine; De Sandre-Giovannoli, Annachiara; Vera, Esteves-Vieira; Navarro, Claire Laure; Elalaoui, Siham Chafai; Tajir, Mariam; Lévy, Nicolas; Sefiani, Abdelaziz

    2012-11-01

    Hutchinson-Gilford Progeria syndrome (HGPS) is a rare genetic disorder, characterized by several clinical features that begin in early childhood, recalling an accelerated aging process. The diagnosis of HGPS is based on the recognition of common clinical features and detection of the recurrent heterozygous c.1824C>T (p.Gly608Gly) mutation within exon 11 in the Lamin A/C encoding gene (LMNA). Besides "typical HGPS," several "atypical progeria" syndromes (APS) have been described, in a clinical spectrum ranging from mandibuloacral dysplasia to atypical Werner syndrome. These patients's clinical features include progeroid manifestations, such as short stature, prominent nose, premature graying of hair, partial alopecia, skin atrophy, lipodystrophy, skeletal anomalies, such as mandibular hypoplasia and acroosteolyses, and in some cases severe atherosclerosis with metabolic complications. APS are due in several cases to de novo heterozygous LMNA mutations other than the p.Gly608Gly, or due to homozygous BAFN1 mutations in Nestor-Guillermo Progeria syndrome (NGPS). We report here and discuss the observation of a non-consanguineous Moroccan patient presenting with atypical progeria. The molecular studies showed the heterozygous mutation c.412G>A (p.Glu138Lys) of the LMNA gene. This mutation, previously reported as a de novo mutation, was inherited from the apparently healthy father who showed a somatic cell mosaicism.

  6. LMNA mutations in progeroid syndromes.

    Science.gov (United States)

    Huang, Shurong; Kennedy, Brian K; Oshima, Junko

    2005-01-01

    Segmental progeroid syndromes are disorders in which affected individuals. present various features that suggest accelerated ageing. The two best-known examples are Hutchinson-Gilford progeria syndrome (HGPS, 'Progeria of childhood') and Werner syndrome (WS, 'Progeria of the adult'). A novel, recurrent de novo mutation in the LMNA gene, responsible for the majority of HGPS cases, results in an in-frame deletion of 50 amino acids, including endoproteolytic sites required for processing of prelamin A to mature lamin A protein. Another mutation results in a 35 amino acid in-frame deletion with a milder HGPS phenotype. WRN, the gene responsible for the majority of WS cases, encodes a multifunctional nuclear protein with exonuclease and helicase activities and may participate in optimizing DNA repair/recombination. A subset of WS patients do not show mutations at the WRN locus (atypical WS), but show heterozygous amino acid substitutions in the heptad repeat region of lamin A. Structural analysis suggests that mutations in atypical WS may interfere with protein-protein interactions. When compared to WRN-mutant WS, LMNA-mutant atypical WS patients appear to show earlier onset and possibly more severe ageing-related symptoms.

  7. Comparação dos fatores de risco para amputações maiores e menores em pacientes diabéticos de um Programa de Saúde da Família Comparison of risk factors for major and minor amputation in diabetic patients included in a Family Health Program

    Directory of Open Access Journals (Sweden)

    Elvira Cancio Assumpção

    2009-06-01

    Full Text Available CONTEXTO: Dentre as maiores causas de internamento hospitalar em pacientes com diabetes melito tipos 1 e 2 estão as complicações do pé diabético, principalmente pelas sequelas, muitas vezes incapacitantes, destacando-se as amputações de membros inferiores. A insuficiência vascular periférica ocorre mais precocemente nesses pacientes. A coexistência de neuropatia, isquemia e imunodeficiência favorece o desenvolvimento de infecções nos membros inferiores, que, se não tratadas adequadamente, podem levar a amputações e até à morte. OBJETIVOS: Comparar os fatores de risco para amputações maiores e menores em pacientes diabéticos de um Programa de Saúde da Família do CAIC Virgem dos Pobres III, em Maceió, AL. MÉTODOS: Foram examinados 93 pacientes com o diagnóstico de diabetes melito, sendo avaliada a realização ou não de amputações de membros inferiores. As variáveis analisadas foram: sexo, idade, tipo do diabetes, pressão arterial, amputação prévia (se maior ou menor, alterações dermatológicas, alterações de pulsos arteriais pedioso e tibial posterior, deformidades e neuropatia, e foram classificadas de acordo com a classificação de Wagner e de Texas. RESULTADOS: Todos os pacientes eram diabéticos tipo 2. Verificou-se que 4,30% dos pacientes evoluíram para amputação de membros inferiores. Não se observou variação significativa da hipertensão, deformidades e neuropatia em relação ao grupo de pacientes que foram amputados. Entretanto, a ausência de detecção dos pulsos distais dos membros inferiores revelou-se bastante significativa com relação ao desfecho de amputação. CONCLUSÃO: Deve-se proporcionar aos diabéticos um atendimento ambulatorial adequado para que seja possível prevenir ou minimizar tais complicações.BACKGROUND: The main causes of hospital admission in patients with type 1 and 2 diabetes mellitus include diabetic foot complications, which may result in particularly disabling

  8. Hutchinson-Gilford Progeria Syndrome

    Directory of Open Access Journals (Sweden)

    Gopal G

    2014-08-01

    Full Text Available Hutchinson-Gilford Progeria syndrome (HGPS is a rare pediatric genetic syndrome associated with a characteristic aged appearance very early in life, generally leading to death in the second decade of life. Apart from premature aging, the other notable characteristics of children with HGPS include extreme short stature, prominent superficial veins, poor weight gain, alopecia, as well as various skeletal and cardiovascular pathologies associated with advanced age. The pattern of inheritance of HGPS is uncertain, though both autosomal dominant and autosomal recessive modes have been described. Recent genetic studies have demonstrated mutations in the LMNA gene in children with HGPS. In this article, we report a 16 years old girl who had the phenotypic features of HGPS and was later confirmed to have LMNA mutation by genetic analysis.

  9. 42 CFR 410.100 - Included services.

    Science.gov (United States)

    2010-10-01

    ... the patient and the physical therapist, occupational therapist, or speech-language pathologist, as... potential, except when the assessment is related solely to vocational rehabilitation. (d) Speech-language pathology services. These are services for the diagnosis and treatment of speech and language disorders...

  10. Permanent farnesylation of lamin A mutants linked to progeria impairs its phosphorylation at serine 22 during interphase.

    Science.gov (United States)

    Moiseeva, Olga; Lopes-Paciencia, Stéphane; Huot, Geneviève; Lessard, Frédéric; Ferbeyre, Gerardo

    2016-02-01

    Mutants of lamin A cause diseases including the Hutchinson-Gilford progeria syndrome (HGPS) characterized by premature aging. Lamin A undergoes a series of processing reactions, including farnesylation and proteolytic cleavage of the farnesylated C-terminal domain. The role of cleavage is unknown but mutations that affect this reaction lead to progeria. Here we show that interphase serine 22 phosphorylation of endogenous mutant lamin A (progerin) is defective in cells from HGPS patients. This defect can be mimicked by expressing progerin in human cells and prevented by inhibition of farnesylation. Furthermore, serine 22 phosphorylation of non-farnesylated progerin was enhanced by a mutation that disrupts lamin A head to tail interactions. The phosphorylation of lamin A or non-farnesylated progerin was associated to the formation of spherical intranuclear lamin A droplets that accumulate protein kinases of the CDK family capable of phosphorylating lamin A at serine 22. CDK inhibitors compromised the turnover of progerin, accelerated senescence of HGPS cells and reversed the effects of FTI on progerin levels. We discuss a model of progeria where faulty serine 22 phosphorylation compromises phase separation of lamin A polymers, leading to accumulation of functionally impaired lamin A structures.

  11. Lung Disease Including Asthma and Adult Vaccination

    Science.gov (United States)

    ... Healthcare Professionals Lung Disease including Asthma and Adult Vaccination Language: English Español (Spanish) Recommend on Facebook Tweet ... more about health insurance options. Learn about adult vaccination and other health conditions Asplenia Diabetes Heart Disease, ...

  12. Births and deaths including fetal deaths

    Data.gov (United States)

    U.S. Department of Health & Human Services — Access to a variety of United States birth and death files including fetal deaths: Birth Files, 1968-2009; 1995-2005; Fetal death file, 1982-2005; Mortality files,...

  13. 28 CFR 20.32 - Includable offenses.

    Science.gov (United States)

    2010-07-01

    ...., drunkenness, vagrancy, disturbing the peace, curfew violation, loitering, false fire alarm, non-specific charges of suspicion or investigation, and traffic violations (except data will be included on arrests...

  14. Including risk in the balanced scorecard

    African Journals Online (AJOL)

    kirstam

    iiSouthern African Business Review Special Edition Accounting Research 2015. Including risk in the .... customer, internal business process and learning and growth perspectives comprise ...... Boston: Harvard Business School Press. Kaplan ...

  15. Including Indigenous Minorities in Decision-Making

    DEFF Research Database (Denmark)

    Pristed Nielsen, Helene

    Based on theories of public sphere participation and deliberative democracy, this book presents empirical results from a study of experiences with including Aboriginal and Maori groups in political decision-making in respectively Western Australia and New Zealand......Based on theories of public sphere participation and deliberative democracy, this book presents empirical results from a study of experiences with including Aboriginal and Maori groups in political decision-making in respectively Western Australia and New Zealand...

  16. Drugs (including oxygen) in severe COPD.

    Science.gov (United States)

    Albert, P; Calverley, P M A

    2008-05-01

    Access to comprehensive guidelines on the management of chronic obstructive pulmonary disease (COPD) is now available, and several treatment goals of therapy have been identified from these guidelines, which have since been studied in clinical trials. Drug therapy is a key component of an individual patient's management plan, particularly in more severe disease. During the past few years, a number of new drug treatments have become available, although these are not always appropriately prescribed; this is particularly the case for oxygen. For patients with a history of exacerbations, there is good evidence for the use of inhaled long-acting anticholinergic agents or combined inhaled steroids and long-acting beta-agonists. Evidence for prophylactic antibiotics and antioxidant agents is lacking. Nutritional and calorie supplementation have not been shown to improve exercise capacity. Statins may improve outcomes in COPD, but prospective trials are needed to confirm this. The evidence for the use of long-term oxygen therapy in hypoxaemic patients is robust. Ambulatory oxygen improves exercise capacity, but whether it is used appropriately is in doubt. Overall, short burst oxygen therapy does not offer a benefit and therefore cannot be recommended.

  17. Recent developments in superconducting materials including ceramics

    Energy Technology Data Exchange (ETDEWEB)

    Tachikawa, Kyoji

    1987-06-01

    This report describes the history of superconduction starting in 1911, when the superconducting phenomenon was first observed in murcury, until the recent discovery of superconducting materials with high critical temperatures. After outlining the BCS theory, basic characteristics are discussed including the critical temperature, magnetic field and current density to be reached for realizing the superconducting state. Various techniques for practical superconducting materials are discussed, including methods for producing extra fine multiconductor wires from such superconducting alloys as Nb-Ti, intermetallic Nb/sub 3/Sn compound and V/sub 3/Ga, as well as methods for producing wires of Nb/sub 3/Al, Nb/sub 3/(Al, Ge) and Nb/sub 3/Ge such as continuous melt quenching, electron beam irradiation, laser beam irradiation and chemical evaporation. Characteristics of superconducting ceramics are described, along with their applications including superconducting magnets and superconducting elements. (15 figs, 1 tab, 19 refs)

  18. Electric Power Monthly, August 1990. [Glossary included

    Energy Technology Data Exchange (ETDEWEB)

    1990-11-29

    The Electric Power Monthly (EPM) presents monthly summaries of electric utility statistics at the national, Census division, and State level. The purpose of this publication is to provide energy decisionmakers with accurate and timely information that may be used in forming various perspectives on electric issues that lie ahead. Data includes generation by energy source (coal, oil, gas, hydroelectric, and nuclear); generation by region; consumption of fossil fuels for power generation; sales of electric power, cost data; and unusual occurrences. A glossary is included.

  19. Electrochemical cell structure including an ionomeric barrier

    Energy Technology Data Exchange (ETDEWEB)

    Lambert, Timothy N.; Hibbs, Michael

    2017-06-20

    An apparatus includes an electrochemical half-cell comprising: an electrolyte, an anode; and an ionomeric barrier positioned between the electrolyte and the anode. The anode may comprise a multi-electron vanadium phosphorous alloy, such as VP.sub.x, wherein x is 1-5. The electrochemical half-cell is configured to oxidize the vanadium and phosphorous alloy to release electrons. A method of mitigating corrosion in an electrochemical cell includes disposing an ionomeric barrier in a path of electrolyte or ion flow to an anode and mitigating anion accumulation on the surface of the anode.

  20. Musculoskeletal ultrasound including definitions for ultrasonographic pathology

    DEFF Research Database (Denmark)

    Wakefield, RJ; Balint, PV; Szkudlarek, Marcin

    2005-01-01

    in a short period of time. However, there are scarce data regarding its validity, reproducibility, and responsiveness to change, making interpretation and comparison of studies difficult. In particular, there are limited data describing standardized scanning methodology and standardized definitions of US...... pathologies. This article presents the first report from the OMERACT ultrasound special interest group, which has compared US against the criteria of the OMERACT filter. Also proposed for the first time are consensus US definitions for common pathological lesions seen in patients with inflammatory arthritis....

  1. Initial cutaneous manifestations of Hutchinson-Gilford progeria syndrome.

    Science.gov (United States)

    Rork, Jillian F; Huang, Jennifer T; Gordon, Leslie B; Kleinman, Monica; Kieran, Mark W; Liang, Marilyn G

    2014-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare, uniformly fatal, premature aging disease with distinct dermatologic features. We sought to identify and describe the initial skin and hair findings as potential diagnostic signs of the disease. We performed a chart review of the structured initial intake histories of 39 individuals with HGPS enrolled in clinical trials from 2007 to 2010 at Boston Children's Hospital, limited to cutaneous history from birth to 24 months. Medical photographs were provided through the clinical trials and the Progeria Research Foundation Medical and Research Database at Brown University Center for Gerontology and Healthcare Research. All 39 patients reported skin and hair abnormalities within the first 24 months of life. Pathologies included sclerodermoid change, prominent superficial veins, dyspigmentation, and alopecia. The mean age of presentation for each finding was <12 months. The most frequently reported skin feature was sclerodermoid change, which commonly involved the abdomen and bilateral lower extremities. Prominent superficial vasculature manifested as circumoral cyanosis and pronounced veins on the scalp and body. Hypo- and hyperpigmentation were observed over areas of sclerodermoid change. Scalp alopecia progressed in a distinct pattern, with preservation of the hair over the midscalp and vertex areas for the longest period of time. HGPS has distinct cutaneous manifestations during the first 2 years of life that may be the first signs of disease. Awareness of these findings could expedite diagnosis.

  2. LMNA-Associated Cardiocutaneous Progeria: a Novel Autosomal Dominant Premature Aging Syndrome with Late Onset

    Science.gov (United States)

    Kane, Megan S.; Lindsay, Mark E.; Judge, Daniel P.; Barrowman, Jemima; Rhys, Colette Ap; Simonson, Lisa; Dietz, Harry C.; Michaelis, Susan

    2013-01-01

    Hutchinson-Gilford Progeria Syndrome (HGPS) is a well-characterized premature aging disorder caused by mutations in LMNA, the gene encoding the nuclear scaffold proteins lamin A and C. In HGPS and related progerias, processing of prelamin A is blocked at a critical step mediated by the zinc metalloprotease ZMPSTE24. Emerging evidence indicates that LMNA-linked progerias can be grouped into two classes: 1) the processing-deficient, early onset “typical” progerias (e.g. HGPS), and 2) the processing-proficient “atypical” progeria syndromes (APS) that are later in onset. Here we describe a novel progeria syndrome with prominent cutaneous and cardiovascular manifestations belonging to the second class. We suggest the name LMNA-associated cardiocutaneous progeria syndrome (LCPS) for this disorder. Affected patients are normal at birth but undergo progressive cutaneous changes in childhood and die in middle age of cardiovascular complications, including accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. In addition, the proband demonstrated cancer susceptibility, a phenotype rarely described for LMNA-based progeria disorders. The LMNA mutation that causes LCPS is a heterozygous missense mutation resulting in an amino acid substitution (D300G) in the coiled-coil domain of lamin A/C. In skin fibroblasts isolated from the proband, the processing and levels of lamin A and C are normal. However, nuclear morphology is aberrant and rescued by treatment with farnesyltransferase inhibitors (FTIs), as is also the case for HGPS and other laminopathies. Our findings advance knowledge of human LMNA progeria syndromes, and raise the possibility that typical and atypical progerias may converge upon a common mechanism to cause premature aging disease. PMID:23666920

  3. LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset.

    Science.gov (United States)

    Kane, Megan S; Lindsay, Mark E; Judge, Daniel P; Barrowman, Jemima; Ap Rhys, Colette; Simonson, Lisa; Dietz, Harry C; Michaelis, Susan

    2013-07-01

    Hutchinson-Gilford Progeria Syndrome (HGPS) is a premature aging disorder caused by mutations in LMNA, which encodes the nuclear scaffold proteins lamin A and C. In HGPS and related progerias, processing of prelamin A is blocked at a critical step mediated by the zinc metalloprotease ZMPSTE24. LMNA-linked progerias can be grouped into two classes: (1) the processing-deficient, early onset "typical" progerias (e.g., HGPS), and (2) the processing-proficient "atypical" progeria syndromes (APS) that are later in onset. Here we describe a previously unrecognized progeria syndrome with prominent cutaneous and cardiovascular manifestations belonging to the second class. We suggest the name LMNA-associated cardiocutaneous progeria syndrome (LCPS) for this disorder. Affected patients are normal at birth but undergo progressive cutaneous changes in childhood and die in middle age of cardiovascular complications, including accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. In addition, the proband demonstrated cancer susceptibility, a phenotype rarely described for LMNA-based progeria disorders. The LMNA mutation that caused LCPS in this family is a heterozygous c.899A>G (p.D300G) mutation predicted to alter the coiled-coil domain of lamin A/C. In skin fibroblasts isolated from the proband, the processing and levels of lamin A and C are normal. However, nuclear morphology is aberrant and rescued by treatment with farnesyltransferase inhibitors, as is also the case for HGPS and other laminopathies. Our findings advance knowledge of human LMNA progeria syndromes, and raise the possibility that typical and atypical progerias may converge upon a common mechanism to cause premature aging disease.

  4. The Case for Strategies that Include Men

    African Journals Online (AJOL)

    The Case for Strategies that Include Men. Denise M Roth and .... one set of approaches advocated using medical cri- teria to identify and ... planning, offering services for the prevention and ..... are equipped with the basic minimum needed to respond to ..... Lane SD Television minidramas: social marketing and evaluation in ...

  5. An acoustic finite element including viscothermal effects

    NARCIS (Netherlands)

    Nijhof, M.J.J.; Wijnant, Y.H.; Boer, de A.

    2007-01-01

    In acoustics it is generally assumed that viscous- en thermal boundary layer effects play a minor role in the propagation of sound waves. Hence, these effects are neglected in the basic set of equations describing the sound field. However, for geometries that include small confinements of air or thi

  6. 47 CFR 65.820 - Included items.

    Science.gov (United States)

    2010-10-01

    ... 47 Telecommunication 3 2010-10-01 2010-10-01 false Included items. 65.820 Section 65.820 Telecommunication FEDERAL COMMUNICATIONS COMMISSION (CONTINUED) COMMON CARRIER SERVICES (CONTINUED) INTERSTATE RATE...) Cash working capital. The average amount of investor-supplied capital needed to provide funds for...

  7. Nuclear Chemistry: Include It in Your Curriculum.

    Science.gov (United States)

    Atwood, Charles H.; Sheline, R. K.

    1989-01-01

    Some of the topics that might be included in a nuclear chemistry section are explored. Offers radioactivity, closed shells in nuclei, energy of nuclear processes, nuclear reactions, and fission and fusion as topics of interest. Provided are ideas and examples for each. (MVL)

  8. Including the Excluded: One School for All.

    Science.gov (United States)

    EFA 2000 Bulletin, 1998

    1998-01-01

    This issue of "EFA 2000" focuses on the theme of inclusive education, i.e., including children with disabilities in general education classrooms. The cover story discusses a 1995 UNESCO survey of 63 countries that showed that integration of children with disabilities in regular schools is a declared policy in almost every country.…

  9. SKIRT: Stellar Kinematics Including Radiative Transfer

    Science.gov (United States)

    Baes, Maarten; Dejonghe, Herwig; Davies, Jonathan

    2011-09-01

    SKIRT is a radiative transfer code based on the Monte Carlo technique. The name SKIRT, acronym for Stellar Kinematics Including Radiative Transfer, reflects the original motivation for its creation: it has been developed to study the effects of dust absorption and scattering on the observed kinematics of dusty galaxies. In a second stage, the SKIRT code was extended with a module to self-consistently calculate the dust emission spectrum under the assumption of local thermal equilibrium. This LTE version of SKIRT has been used to model the dust extinction and emission of various types of galaxies, as well as circumstellar discs and clumpy tori around active galactic nuclei. A new, extended version of SKIRT code can perform efficient 3D radiative transfer calculations including a self-consistent calculation of the dust temperature distribution and the associated FIR/submm emission with a full incorporation of the emission of transiently heated grains and PAH molecules.

  10. Rotor assembly including superconducting magnetic coil

    Energy Technology Data Exchange (ETDEWEB)

    Snitchler, Gregory L. (Shrewsbury, MA); Gamble, Bruce B. (Wellesley, MA); Voccio, John P. (Somerville, MA)

    2003-01-01

    Superconducting coils and methods of manufacture include a superconductor tape wound concentrically about and disposed along an axis of the coil to define an opening having a dimension which gradually decreases, in the direction along the axis, from a first end to a second end of the coil. Each turn of the superconductor tape has a broad surface maintained substantially parallel to the axis of the coil.

  11. Electric power monthly, September 1990. [Glossary included

    Energy Technology Data Exchange (ETDEWEB)

    1990-12-17

    The purpose of this report is to provide energy decision makers with accurate and timely information that may be used in forming various perspectives on electric issues. The power plants considered include coal, petroleum, natural gas, hydroelectric, and nuclear power plants. Data are presented for power generation, fuel consumption, fuel receipts and cost, sales of electricity, and unusual occurrences at power plants. Data are compared at the national, Census division, and state levels. 4 figs., 52 tabs. (CK)

  12. HIV/AIDS手术切口愈合与CD4+T淋巴细胞计数的关系%Relationship between CD4+T lymphocyte cell count and the prognosis (including the healing of the incision wound) of HIV/AIDS patients who had undergone surgical operation

    Institute of Scientific and Technical Information of China (English)

    杨涤; 赵红心; 郜桂菊; 魏凯; 张俐; 韩宁; 肖江; 李鑫; 王芳

    2014-01-01

    Objective To explore the relationship between CD4+T lymphocyte cell count and prognosis as well as healing of the surgical incision in HIV/AIDS patients who had received operation.Methods Data were collected and analysed retrospectively from 234 HIV/AIDS patients hospitalized at the Beijing Ditan hospital who underwent operation between January 2008 and December 2012.Following factors were taken into consideration that including:age,gender,time and where that anti-HIV(+) was diagnosed,CD4+T lymphocyte cell count at the time of operation,part of the body that being operated,typology of incision,different levels of healing on the surgical incision,infection at the incision site,post-operative complications and the prognosis,etc.Wilcoxon rank sum test,x2 test,Kruskal-Wallis H test and Spearman rank correlation were used for statistical analysis to compare the different levels on healing of the incision in relation to the different CD4+T lymphocyte cell counts.Rates of level A healing under different CD4+T cell counts were also compared.Results 1)Among the 234 patients including 125 males and 109 females,the average age was 36.17 ± 11.56 years old.Time after discovery of anti-HIV(+) was between 0 and 204 months.The medium CD4+T cell count was 388.5 cell/μl; 23.93% of the patients having CD4+T lymphocyte cell counts as < 200 cell/μl.2)7.26% of the operations were emergent.There were 23 different organs affected at the time of operation,due to 48 different kinds of illness.21.37% of the operations belonged to class Ⅰ incision,49.57% was class l incision and 29.06% was class Ⅲ incision.86.32% of the incisions resulted in level A healing,12.51% resulted in level B and 1.71% in level C.4.27% of the patients developed post-operative complications.Differences between level A healing and level B or C healing in terms of CD4+T lymphocyte cell count were not significant (P>0.05).There was no statistically significant difference on the CD4 +T

  13. Drug delivery device including electrolytic pump

    KAUST Repository

    Foulds, Ian G.

    2016-03-31

    Systems and methods are provided for a drug delivery device and use of the device for drug delivery. In various aspects, the drug delivery device combines a “solid drug in reservoir” (SDR) system with an electrolytic pump. In various aspects an improved electrolytic pump is provided including, in particular, an improved electrolytic pump for use with a drug delivery device, for example an implantable drug delivery device. A catalytic reformer can be incorporated in a periodically pulsed electrolytic pump to provide stable pumping performance and reduced actuation cycle.

  14. Inlet Guide Vane Wakes Including Rotor Effects

    Science.gov (United States)

    Johnston, R. T.; Fleeter, S.

    2001-02-01

    Fundamental experiments are described directed at the investigation of forcing functions generated by an inlet guide vane (IGV) row, including interactions with the downstream rotor, for application to turbomachine forced response design systems. The experiments are performed in a high-speed research fan facility comprised of an IGV row upstream of a rotor. IGV-rotor axial spacing is variable, with the IGV row able to be indexed circumferentially, thereby allowing measurements to be made across several IGV wakes. With an IGV relative Mach number of 0.29, measurements include the IGV wake pressure and velocity fields for three IGV-rotor axial spacings. The decay characteristics of the IGV wakes are compared to the Majjigi and Gliebe empirical correlations. After Fourier decomposition, a vortical-potential gust splitting analysis is implemented to determine the vortical and potential harmonic wake gust forcing functions both upstream and downstream of the rotor. Higher harmonics of the vortical gust component of the IGV wakes are found to decay at a uniform rate due to viscous diffusion.

  15. Including supplementary elements in a compositional biplot

    Science.gov (United States)

    Daunis-i-Estadella, J.; Thió-Henestrosa, S.; Mateu-Figueras, G.

    2011-05-01

    The biplot is a widely and powerful methodology used with multidimensional data sets to describe and display the relationships between observations and variables in an easy way. Compositional data are vectors with positive components, whose sum is constant because they represent a relative contribution of different parts to a whole; due to this property standard biplots cannot be performed with compositional data, instead of a previous transformation of the data is performed. In this paper, we extend the compositional biplot defined by Aitchison and Greenacre (2002), in order to include in the display supplementary elements which are not used in the definition of the compositional biplot. Different types of supplementary elements are considered: supplementary parts of the composition, supplementary continuous variables external to the composition, supplementary categorical variables and supplementary observations. The projection of supplementary parts of the composition is done by means of the equivalence of clr and lr biplots. The other supplementary projections are done by classical methodology. An application example with a real geological data is included.

  16. Including subjectivity in the teaching of Psychopathology

    Directory of Open Access Journals (Sweden)

    Octavio Domont de Serpa Junior

    2007-01-01

    Full Text Available Current psychopathology studies have often been presented in their descriptive dimension. This perspective is important for teaching because it helps the students to recognize and identify the symptomatology of each psychopathology case. However, subjectivity, the experience of suffering and interpersonal aspects are all lost in this perspective. Coming from another psychopathology tradition - existential anthropology - this paper presents practical psychopathology teaching experience which considers such dimensions as being relevant to the understanding of mental suffering. The features and limitations of such traditions are briefly reviewed to support this teaching experience. Two new modalities of practical teaching, used in the discipline of "Special Psychopathology I" offered by the Department of Psychiatry and Forensic Medicine at the medical school of the Federal University of Rio de Janeiro for students of psychology, will be presented according to descriptive case study methodology. With these activities we also expect to change the practice of teaching. Traditionally, interviewing of in-patients by a large group of students who observe passively what is happening is the center of this kind of education. We intend to develop a model of teaching which is closer to the proposal of the Brazilian Psychiatric Reform which views mental illness as a complex phenomenon, always involving the relationship that the subject establishes with the world.

  17. Rehabilitation of a triple amputee including a hip disarticulation.

    Science.gov (United States)

    Shin, J C; Park, C I; Kim, Y C; Jang, S H; Bang, I K; Shin, J S

    1998-12-01

    A multiple amputee more severe than a triple amputee is uncommon. There have been no reports on the rehabilitation outcome of a triple amputee, including hip disarticulation and transtibial amputation. The authors report the rehabilitation of a patient with left hip disarticulation, right trans-tibial amputation, and left trans-humeral amputation due to a train accident. He has successfully completed the rehabilitation programme and has become independent in prosthetic ambulation, activities of daily living, and driving.

  18. Critical point anomalies include expansion shock waves

    Energy Technology Data Exchange (ETDEWEB)

    Nannan, N. R., E-mail: ryan.nannan@uvs.edu [Mechanical Engineering Discipline, Anton de Kom University of Suriname, Leysweg 86, PO Box 9212, Paramaribo, Suriname and Process and Energy Department, Delft University of Technology, Leeghwaterstraat 44, 2628 CA Delft (Netherlands); Guardone, A., E-mail: alberto.guardone@polimi.it [Department of Aerospace Science and Technology, Politecnico di Milano, Via La Masa 34, 20156 Milano (Italy); Colonna, P., E-mail: p.colonna@tudelft.nl [Propulsion and Power, Delft University of Technology, Kluyverweg 1, 2629 HS Delft (Netherlands)

    2014-02-15

    From first-principle fluid dynamics, complemented by a rigorous state equation accounting for critical anomalies, we discovered that expansion shock waves may occur in the vicinity of the liquid-vapor critical point in the two-phase region. Due to universality of near-critical thermodynamics, the result is valid for any common pure fluid in which molecular interactions are only short-range, namely, for so-called 3-dimensional Ising-like systems, and under the assumption of thermodynamic equilibrium. In addition to rarefaction shock waves, diverse non-classical effects are admissible, including composite compressive shock-fan-shock waves, due to the change of sign of the fundamental derivative of gasdynamics.

  19. Reconnection experiments including 3D magnetic nulls

    Science.gov (United States)

    Le, A.; Egedal, J.; Vrublevskis, A.

    2010-11-01

    A rich collection of magnetic reconnection scenarios is possible in three dimensions depending on the topological and geometric structure of the magnetic field [1]. In recent experiments at the Versatile Toroidal Facility (VTF) three-dimensional effects were essential even in nearly axisymmetric plasmas with a non-vanishing toroidal field [2]. To explore reconnection in 3D geometries including magnetic null points, a new adjustable set of coils will be installed in the vacuum chamber of VTF. The range of vacuum magnetic field topologies attainable in VTF will be explored numerically. Plasma reconnection experiments will be run in these configurations, and measurements will be presented if available. [4pt] [1] CE Parnell, et al., (2009) ``Three-Dimensional Magnetic Reconnection, in Magnetic Coupling between the Interior and the Atmosphere of the Sun,'' eds. S.S. Hasan and R.J. Rutten, Springer-Verlag, Heidelberg, Berlin. [0ex] [2] Katz, N. et al., (2010) Phys. Rev. Lett. 104, 255004.

  20. Thermovoltaic semiconductor device including a plasma filter

    Science.gov (United States)

    Baldasaro, Paul F.

    1999-01-01

    A thermovoltaic energy conversion device and related method for converting thermal energy into an electrical potential. An interference filter is provided on a semiconductor thermovoltaic cell to pre-filter black body radiation. The semiconductor thermovoltaic cell includes a P/N junction supported on a substrate which converts incident thermal energy below the semiconductor junction band gap into electrical potential. The semiconductor substrate is doped to provide a plasma filter which reflects back energy having a wavelength which is above the band gap and which is ineffectively filtered by the interference filter, through the P/N junction to the source of radiation thereby avoiding parasitic absorption of the unusable portion of the thermal radiation energy.

  1. CLIC expands to include the Southern Hemisphere

    CERN Multimedia

    Roberto Cantoni

    2010-01-01

    Australia has recently joined the CLIC collaboration: the enlargement will bring new expertise and resources to the project, and is especially welcome in the wake of CERN budget redistributions following the recent adoption of the Medium Term Plan.   The countries involved in CLIC collaboration With the signing of a Memorandum of Understanding on 26 August 2010, the ACAS network (Australian Collaboration for Accelerator Science) became the 40th member of in the multilateral CLIC collaboration making Australia the 22nd country to join the collaboration. “The new MoU was signed by the ACAS network, which includes the Australian Synchrotron and the University of Melbourne”, explains Jean-Pierre Delahaye, CLIC Study Leader. “Thanks to their expertise, the Australian institutes will contribute greatly to the CLIC damping rings and the two-beam test modules." Institutes from any country wishing to join the CLIC collaboration are invited to assume responsibility o...

  2. CERN Technical Training: LABVIEW courses include RADE

    CERN Multimedia

    HR Department

    2009-01-01

    The contents of the "LabView Basic I" and "LabView Intermediate II" courses have recently been changed to include, respectively, an introduction to and expert training in the Rapid Application Development Environment (RADE). RADE is a LabView-based application developed at CERN to integrate LabView in the accelerator and experiment control infrastructure. It is a suitable solution to developing expert tools, machine development analysis and independent test facilities. The course names have also been changed to "LabVIEW Basics I with RADE Introduction" and "LabVIEW Intermediate II with Advanced RADE Application". " LabVIEW Basics I with RADE Introduction" is designed for: Users preparing to develop applications using LabVIEW, or NI Developer Suite; users and technical managers evaluating LabVIEW or NI Developer Suite in purchasing decisions; users pursuing the Certified LabVIEW Developer certification. The course pr...

  3. CERN Technical Training: LABVIEW courses include RADE

    CERN Multimedia

    HR Department

    2009-01-01

    The contents of "LabView Basic I" and "LabView Intermediate II" trainings have been recently changed to include, respectively, an introduction and an expert training on the Rapid Application Development Environment (RADE). RADE is a LabView-based application developed at CERN to integrate LabView in the accelerator and experiment control infrastructure. It is a suitable solution to develop expert tools, machine development analysis and independent test facilities. The course names have also been changed to "LabVIEW Basics I with RADE Introduction" and "LabVIEW Intermediate II with Advanced RADE Application". " LabVIEW Basics I with RADE Introduction" is designed for: Users preparing to develop applications using LabVIEW, or NI Developer Suite; users and technical managers evaluating LabVIEW or NI Developer Suite in purchasing decisions; users pursuing the Certified LabVIEW Developer certification. The course prepare...

  4. CERN Technical Training: LABVIEW courses include RADE

    CERN Multimedia

    HR Department

    2009-01-01

    The contents of the "LabView Basic I" and "LabView Intermediate II" courses have recently been changed to include, respectively, an introduction to and expert training in the Rapid Application Development Environment (RADE). RADE is a LabView-based application developed at CERN to integrate LabView in the accelerator and experiment control infrastructure. It is a suitable solution to developing expert tools, machine development analysis and independent test facilities. The course names have also been changed to "LabVIEW Basics I with RADE Introduction" and "LabVIEW Intermediate II with Advanced RADE Application". " LabVIEW Basics I with RADE Introduction" is designed for: Users preparing to develop applications using LabVIEW, or NI Developer Suite; users and technical managers evaluating LabVIEW or NI Developer Suite in purchasing decisions; users pursuing the Certified LabVIEW Developer certification. The course prepares participants to develop test and measurement, da...

  5. Should Broca's area include Brodmann area 47?

    Science.gov (United States)

    Ardila, Alfredo; Bernal, Byron; Rosselli, Monica

    2017-02-01

    Understanding brain organization of speech production has been a principal goal of neuroscience. Historically, brain speech production has been associated with so-called Broca’s area (Brodmann area –BA- 44 and 45), however, modern neuroimaging developments suggest speech production is associated with networks rather than with areas. The purpose of this paper was to analyze the connectivity of BA47 ( pars orbitalis) in relation to language . A meta-analysis was conducted to assess the language network in which BA47 is involved. The Brainmap database was used. Twenty papers corresponding to 29 experimental conditions with a total of 373 subjects were included. Our results suggest that BA47 participates in a “frontal language production system” (or extended Broca’s system). The BA47  connectivity found is also concordant with a minor role in language semantics. BA47 plays a central role in the language production system.

  6. ACCREDITATION FOR TECHNICAL ABILITIES INCLUDING COMPUTER SKILLS

    Directory of Open Access Journals (Sweden)

    Halit Hami OZ

    2013-01-01

    Full Text Available Sector Skills are defined by state-sponsored, employer-led organizations that cover specific economic sectors in the European Union and other countries in the world to reduce skills gaps and shortages, improve productivity, boost the skills of their sector workforces and improve learning supply. The accreditation and registration systems used by professional bodies raise the profile of the profession. In many countries including the European Union, professional associations are beginning to accept practice-based accreditation, generally as an alternative to their mainstream systems. Besides studying the certain agencies in the European Union for assessing/accreditating practical abilities , Accreditation for practical abilities of Information Communication Technology and Business Management/Language domains developed by Accreditation Council for Practical abilities are also studied in detail as an example to establish a similar agency in Turkey.

  7. AMS at the ANU including biomedical applications

    Energy Technology Data Exchange (ETDEWEB)

    Fifield, L.K.; Allan, G.L.; Cresswell, R.G.; Ophel, T.R. [Australian National Univ., Canberra, ACT (Australia); King, S.J.; Day, J.P. [Manchester Univ. (United Kingdom). Dept. of Chemistry

    1993-12-31

    An extensive accelerator mass spectrometry program has been conducted on the 14UD accelerator at the Australian National University since 1986. In the two years since the previous conference, the research program has expanded significantly to include biomedical applications of {sup 26}Al and studies of landform evolution using isotopes produced in situ in surface rocks by cosmic ray bombardment. The system is now used for the measurement of {sup 10}Be, {sup 14}C, {sup 26}Al, {sup 36}Cl, {sup 59}Ni and {sup 129}I, and research is being undertaken in hydrology, environmental geochemistry, archaeology and biomedicine. On the technical side, a new test system has permitted the successful off-line development of a high-intensity ion source. A new injection line to the 14UD has been established and the new source is now in position and providing beams to the accelerator. 4 refs.

  8. Models of bovine babesiosis including juvenile cattle.

    Science.gov (United States)

    Saad-Roy, C M; Shuai, Zhisheng; van den Driessche, P

    2015-03-01

    Bovine Babesiosis in cattle is caused by the transmission of protozoa of Babesia spp. by ticks as vectors. Juvenile cattle (Babesiosis, rarely show symptoms, and acquire immunity upon recovery. Susceptibility to the disease varies between breeds of cattle. Models of the dynamics of Bovine Babesiosis transmitted by the cattle tick that include these factors are formulated as systems of ordinary differential equations. Basic reproduction numbers are calculated, and it is proved that if these numbers are below the threshold value of one, then Bovine Babesiosis dies out. However, above the threshold number of one, the disease may approach an endemic state. In this case, control measures are suggested by determining target reproduction numbers. The percentage of a particular population (for example, the adult bovine population) needed to be controlled to eradicate the disease is evaluated numerically using Columbia data from the literature.

  9. DEVELOPMENT OF WATER CIRCULATION MODEL INCLUDING IRRIGATION

    Science.gov (United States)

    Kotsuki, Shunji; Tanaka, Kenji; Kojiri, Toshiharu; Hamaguchi, Toshio

    It is well known that since agricultural water withdrawal has much affect on water circulation system, accurate analysis of river discharge or water balance are difficult with less regard for it. In this study, water circulation model composed of land surface model and distributed runoff model is proposed at 10km 10km resolution. In this model, irrigation water, which is estimated with land surface model, is introduced to river discharge analysis. The model is applied to the Chao Phraya River in Thailand, and reproduced seasonal water balance. Additionally, the discharge on dry season simulated with the model is improved as a result of including irrigation. Since the model, which is basically developed from global data sets, simulated seasonal change of river discharge, it can be suggested that our model has university to other river basins.

  10. The surgery of peripheral nerves (including tumors)

    DEFF Research Database (Denmark)

    Fugleholm, Kåre

    2013-01-01

    Surgical pathology of the peripheral nervous system includes traumatic injury, entrapment syndromes, and tumors. The recent significant advances in the understanding of the pathophysiology and cellular biology of peripheral nerve degeneration and regeneration has yet to be translated into improved...... surgical techniques and better outcome after peripheral nerve injury. Decision making in peripheral nerve surgery continues to be a complex challenge, where the mechanism of injury, repeated clinical evaluation, neuroradiological and neurophysiological examination, and detailed knowledge of the peripheral...... nervous system response to injury are prerequisite to obtain the best possible outcome. Surgery continues to be the primary treatment modality for peripheral nerve tumors and advances in adjuvant oncological treatment has improved outcome after malignant peripheral nerve tumors. The present chapter...

  11. CERN Technical Training: LABVIEW courses include RADE

    CERN Multimedia

    HR Department

    2009-01-01

    The contents of the "LabView Basic I" and "LabView Intermediate II" courses have recently been changed to include, respectively, an introduction to and expert training in the Rapid Application Development Environment (RADE). RADE is a LabView-based application developed at CERN to integrate LabView in the accelerator and experiment control infrastructure. It is a suitable solution to developing expert tools, machine development analysis and independent test facilities. The course names have also been changed to "LabVIEW Basics I with RADE Introduction" and "LabVIEW Intermediate II with Advanced RADE Application". " LabVIEW Basics I with RADE Introduction" is designed for: Users preparing to develop applications using LabVIEW, or NI Developer Suite; users and technical managers evaluating LabVIEW or NI Developer Suite in purchasing decisions; users pursuing the Certified LabVIEW Developer certification. The course pr...

  12. [Prevention of dementia (including Alzheimer's disease)].

    Science.gov (United States)

    Kornhuber, H H

    2004-05-01

    Prevention of dementia: Life expectancy still increases linearly, and the elderly part of the European population grows rapidly in relation to the young. Dementia, however, grows even more rapidly, because it increases exponentially after age 65; it will become a great burden if nothing is done. The discussion so far is concentrated on treatment, whereas prevention is neglected. The therapy of dementia, however, has limited effect. Contrary to a widespread opinion prevention is possible. Genetic factors alone dominate the fate of cognition only in about 3 % of the cases. Besides age, lifestyle and the vascular risk factors exercise a great influence. High blood pressure carries a fourfold risk, diabetes more than doubles the risk both of the vascular and of the Alzheimer type; combined even more. Especially cerebral microangiopathy is strongly associated with Alzheimer's dementia, it triggers the vicious circle which leads to amyloid deposition. The importance of the circulation is underestimated, because most of the microvascular cerebral lesions are not perceived by the patient. All the risk factors for Alzheimer's disease after age 65 are also vascular risk factors especially for microangiopathy: Apo-E4, oestrogen deficiency, insulin resistance, diabetes, arterial hypertension, high cholesterol, old age and increased plasma homocystin which is often caused by alcohol consumption even in moderate doses. A healthy life style with daily outdoor activity and a Mediterranean diet not only reduces the risk of dementia, but also of coronary death and cancer. Cognitively stimulating activity protects even more than physical activity against dementia; the basis for this is acquired in youth by education. Therapy with statins is advisable if atherosclerosis cannot be reasonably counteracted by physical activity and diet.

  13. Engine lubrication circuit including two pumps

    Science.gov (United States)

    Lane, William H.

    2006-10-03

    A lubrication pump coupled to the engine is sized such that the it can supply the engine with a predetermined flow volume as soon as the engine reaches a peak torque engine speed. In engines that operate predominately at speeds above the peak torque engine speed, the lubrication pump is often producing lubrication fluid in excess of the predetermined flow volume that is bypassed back to a lubrication fluid source. This arguably results in wasted power. In order to more efficiently lubricate an engine, a lubrication circuit includes a lubrication pump and a variable delivery pump. The lubrication pump is operably coupled to the engine, and the variable delivery pump is in communication with a pump output controller that is operable to vary a lubrication fluid output from the variable delivery pump as a function of at least one of engine speed and lubrication flow volume or system pressure. Thus, the lubrication pump can be sized to produce the predetermined flow volume at a speed range at which the engine predominately operates while the variable delivery pump can supplement lubrication fluid delivery from the lubrication pump at engine speeds below the predominant engine speed range.

  14. Full Boltzmann equations for leptogenesis including scattering

    CERN Document Server

    Hahn-Woernle, F; Wong, Y Y Y

    2009-01-01

    We study the evolution of a cosmological baryon asymmetry produced via leptogenesis by means of the full classical Boltzmann equations, without the assumption of kinetic equilibrium and including all quantum statistical factors. Beginning with the full mode equations we derive the usual equations of motion for the right-handed neutrino number density and integrated lepton asymmetry, and show explicitly the impact of each assumption on these quantities. For the first time, we investigate also the effects of scattering of the right-handed neutrino with the top quark to leading order in the Yukawa couplings by means of the full Boltzmann equations. We find that in our full Boltzmann treatment the final lepton asymmetry can be suppressed by as much as a factor of 1.5 in the weak wash-out regime (K1), the full Boltzmann treatment and the integrated approach give nearly identical final lepton asymmetries (within 10 % of each other at K>3). Finally, we show that the opposing effects of quantum statistics on decays/i...

  15. Extending Newtonian Dynamics to Include Stochastic Processes

    Science.gov (United States)

    Zak, Michail

    2009-01-01

    A paper presents further results of continuing research reported in several previous NASA Tech Briefs articles, the two most recent being Stochastic Representations of Chaos Using Terminal Attractors (NPO-41519), [Vol. 30, No. 5 (May 2006), page 57] and Physical Principle for Generation of Randomness (NPO-43822) [Vol. 33, No. 5 (May 2009), page 56]. This research focuses upon a mathematical formalism for describing post-instability motions of a dynamical system characterized by exponential divergences of trajectories leading to chaos (including turbulence as a form of chaos). The formalism involves fictitious control forces that couple the equations of motion of the system with a Liouville equation that describes the evolution of the probability density of errors in initial conditions. These stabilizing forces create a powerful terminal attractor in probability space that corresponds to occurrence of a target trajectory with probability one. The effect in configuration space (ordinary three-dimensional space as commonly perceived) is to suppress exponential divergences of neighboring trajectories without affecting the target trajectory. As a result, the post-instability motion is represented by a set of functions describing the evolution of such statistical quantities as expectations and higher moments, and this representation is stable.

  16. Odontogenic fibroma, including amyloid and ossifying variants.

    Science.gov (United States)

    Eversole, Lewis R

    2011-12-01

    Sixty-five cases of odontogenic fibroma (OdonF) are herein presented having been segregated into peripheral, extra bony tumors (n = 40) and tumors arising in bone or centrally (n = 25). All cases were characterized microscopically by a fibrous proliferation that varied within and between cases in cellularity and collagen fibril diameter, with intermixed odontogenic epithelial islands and cords. All central lesions presented as well demarcated radiolucencies and resorption of contiguous tooth roots was a common finding. These intraosseous lesions were of the WHO type; the so-called nonWHO type was excluded as all lesions with this diagnosis were devoid of an epithelial component and could be reclassified as other soft tissue fibrogenic tumors. Neither the central tumors nor the peripheral lesions recurred following enucleation/curettage, with a mean follow-up of 4 and 3.4 years respectively. Three distinct microscopic variations were encountered in this series: (1) two cases of OdonF with giant cell reaction, (2) two instances of OdonF with ossifying fibroma; and (3) four instances of OdonF with odontogenic ameloblast-associated protein (ODAM), an amyloid-like protein found deposited adjacent to epithelial cords plus CD1a+/S-100+ Langerhans dendritic cells entwined around the epithelial element. A single instance of the odontogenic fibroma-like hamartoma/enamel hypoplasia syndrome has been included in this series.

  17. Locomotive Assignment Optimization Including Train Delays

    Directory of Open Access Journals (Sweden)

    Sandra Kasalica

    2013-10-01

    Full Text Available Intention– Cyclic locomotive assignment planning is a specific type of organization of locomotive usage, and in fact, it means putting the complete workload to a closed chain, which is repeated periodically. The concept of cyclic locomotive assignment planning type organization in the area of train traction has proven in practice as the best one, but as it is made for in-advance defined timetable and without considering the stochastic nature of the timetable realization process, it leads to incompatibility in using locomotives. Methodology – Methodology defined in this paper contains: research of train delays on the Serbian Railways and Montenegrin Railways networks, analysis of the real system organization of locomotive usage in conditions of train delays, theoretical thesis of solving the problem of optimal cyclic locomotive assignment planning in conditions of train delays, designing of a model with algorithms, preparing the software package, testing the model and program with results, as well as the conclusions drawn from the complete research project. Results– The optimization model of cyclic locomotive assignment planning during the process of making timetable including train delays has been defined. Conclusion –The obtained results have shown as expected, that the larger delays of trains required a larger number of locomotives. However, by using this model it is possible to optimize the required number of locomotives, taking into account the real time delays of trains.

  18. An Integrated Biochemistry Laboratory, Including Molecular Modeling

    Science.gov (United States)

    Hall, Adele J. Wolfson Mona L.; Branham, Thomas R.

    1996-11-01

    The dilemma of designing an advanced undergraduate laboratory lies in the desire to teach and reinforce basic principles and techniques while at the same time exposing students to the excitement of research. We report here on a one-semester, project-based biochemistry laboratory that combines the best features of a cookbook approach (high success rate, achievement of defined goals) with those of an investigative, discovery-based approach (student involvement in the experimental design, excitement of real research). Individual modules may be selected and combined to meet the needs of different courses and different institutions. The central theme of this lab is protein purification and design. This laboratory accompanies the first semester of biochemistry (Structure and Function of Macromolecules, a course taken mainly by junior and senior chemistry and biological chemistry majors). The protein chosen as the object of study is the enzyme lysozyme, which is utilized in all projects. It is suitable for a student lab because it is easily and inexpensively obtained from egg white and is extremely stable, and its high isoelectric point (pI = 11) allows for efficient separation from other proteins by ion-exchange chromatography. Furthermore, a literature search conducted by the resourceful student reveals a wealth of information, since lysozyme has been the subject of numerous studies. It was the first enzyme whose structure was determined by crystallography (1). Hendrickson et al. (2) have previously described an intensive one-month laboratory course centered around lysozyme, although their emphasis is on protein stability rather than purification and engineering. Lysozyme continues to be the focus of much exciting new work on protein folding and dynamics, structure and activity (3 - 5). This lab course includes the following features: (i) reinforcement of basic techniques, such as preparation of buffers, simple enzyme kinetics, and absorption spectroscopy; (ii

  19. Cytokine expression of microscopic colitis including interleukin-17.

    Science.gov (United States)

    Park, Eun-Kyoung; Park, Young Sook; Park, Dae Rim; Jung, Sung Ae; Han, Dong Soo; Jang, Byung Ik; Kim, Young Ho; Kim, Won Ho; Jo, Yun Ju; Lee, Ki Ho; Lee, Won Mi; Kim, Eun Kyung; Koo, Hae Soo

    2015-05-23

    Microscopic colitis is characterized by chronic watery diarrhea with specific pathological changes that can be diagnosed by microscopic examination. We performed immunohistochemical analysis of proinflammatory cytokines to investigate the pathogenic mechanism of microscopic colitis. This study consisted of six patients with lymphocytic colitis, six patients with collagenous colitis, and six patients with functional diarrhea but normal pathology. We performed an immunohistochemical analysis of the colonic mucosal biopsies to assess the expression of cyclo-oxygenase-2, interleukin-17, nuclear factor-κB, interferon-γ, inducible nitric oxide synthase, and tumor necrosis factor-α. We compared the quantity score of immunohistochemical staining among the groups. The microscopic colitis group showed significantly higher expression of cyclo-oxygenase-2, interleukin-17, nuclear factor-κB, and interferon-γ compared with the control group. Cytokine expression was similar between collagenous colitis and lymphocytic colitis. However, the expression of cyclo-oxygenase-2 was higher in collagenous colitis. Proinflammatory cytokines, including interleukin-17 and interferon-γ, are highly expressed in microscopic colitis. The expression of cyclo-oxygenase-2 was higher in collagenous colitis than in lymphocytic colitis. This study is the first on interleukin-17 expression in microscopic colitis patients.

  20. Extradural hematoma surgery in a child with Hutchinson-Gilford progeria syndrome: Perioperative concerns.

    Science.gov (United States)

    Hansda, Upendra; Agarwal, Jyotsna; Patra, Chitralekha; Ganjoo, Pragati

    2013-05-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a very rare genetic disorder characterized by premature ageing, severe growth failure, and very early onset atherosclerosis. Psychologically and emotionally child-like, these patients suffer from physiological changes of old age. Early and progressive atherosclerosis of intra-cranial vessels in HGPS patients, along with a thin skin and fragile vessels, make these patients susceptible to intra-cranial hematomas following relatively trivial injuries and to severe intra-cranial disease. Anesthetizing HGPS patients for surgery can be challenging due to the presence of a possible difficult airway, multi-system derangements, and associated skin, bone and joint disease. We report here one such child with HGPS who underwent craniotomy and evacuation of an extradural hematoma that developed after minor head trauma. Securing his airway during surgery was difficult.

  1. Extradural hematoma surgery in a child with Hutchinson–Gilford progeria syndrome: Perioperative concerns

    Science.gov (United States)

    Hansda, Upendra; Agarwal, Jyotsna; Patra, Chitralekha; Ganjoo, Pragati

    2013-01-01

    Hutchinson–Gilford progeria syndrome (HGPS) is a very rare genetic disorder characterized by premature ageing, severe growth failure, and very early onset atherosclerosis. Psychologically and emotionally child-like, these patients suffer from physiological changes of old age. Early and progressive atherosclerosis of intra-cranial vessels in HGPS patients, along with a thin skin and fragile vessels, make these patients susceptible to intra-cranial hematomas following relatively trivial injuries and to severe intra-cranial disease. Anesthetizing HGPS patients for surgery can be challenging due to the presence of a possible difficult airway, multi-system derangements, and associated skin, bone and joint disease. We report here one such child with HGPS who underwent craniotomy and evacuation of an extradural hematoma that developed after minor head trauma. Securing his airway during surgery was difficult. PMID:24082942

  2. Extradural hematoma surgery in a child with Hutchinson-Gilford progeria syndrome: Perioperative concerns

    Directory of Open Access Journals (Sweden)

    Upendra Hansda

    2013-01-01

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS is a very rare genetic disorder characterized by premature ageing, severe growth failure, and very early onset atherosclerosis. Psychologically and emotionally child-like, these patients suffer from physiological changes of old age. Early and progressive atherosclerosis of intra-cranial vessels in HGPS patients, along with a thin skin and fragile vessels, make these patients susceptible to intra-cranial hematomas following relatively trivial injuries and to severe intra-cranial disease. Anesthetizing HGPS patients for surgery can be challenging due to the presence of a possible difficult airway, multi-system derangements, and associated skin, bone and joint disease. We report here one such child with HGPS who underwent craniotomy and evacuation of an extradural hematoma that developed after minor head trauma. Securing his airway during surgery was difficult.

  3. Age-Dependent Loss of MMP-3 in Hutchinson–Gilford Progeria Syndrome

    Science.gov (United States)

    Harten, Ingrid A.; Zahr, Rima S.; Lemire, Joan M.; Machan, Jason T.; Moses, Marsha A.; Doiron, Robert J.; Curatolo, Adam S.; Rothman, Frank G.; Wight, Thomas N.; Toole, Bryan P.

    2011-01-01

    Hutchinson–Gilford progeria syndrome (HGPS) is a rare, progressive segmental premature aging disease that includes scleroderma-like skin, progressive joint contracture, and atherosclerosis. Affected individuals die prematurely of heart attacks or strokes. Extracellular matrix dysregulation is implicated as a factor in disease progression. We analyzed messenger RNA and protein levels for matrix metalloproteinases (MMPs)-2,-3, and -9 in HGPS primary human dermal fibroblasts using real-time polymerase chain reaction, enzyme-linked immunosorbent assay, and gelatin zymography. MMP-3 messenger RNA and protein levels decreased significantly with increasing donor age in HGPS fibroblasts but not in controls. MMP-2 messenger RNA also showed a donor age–dependent decrease in HGPS fibroblasts, but levels of secreted protein were unchanged. MMP-9 was similar in HGPS and control cultures. The decreased MMP-3 may represent a shift in the inherent extracellular matrix–degrading proteolytic balance in favor of matrix deposition in HGPS. This metalloproteinase has the potential to serve as a biomarker of therapeutic efficacy when assessing treatments for HGPS. PMID:21852285

  4. Epigenetic involvement in Hutchinson-Gilford progeria syndrome: a mini-review.

    Science.gov (United States)

    Arancio, Walter; Pizzolanti, Giuseppe; Genovese, Swonild I; Pitrone, Maria; Giordano, Carla

    2014-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare human genetic disease that leads to a severe premature ageing phenotype, caused by mutations in the LMNA gene. The LMNA gene codes for lamin-A and lamin-C proteins, which are structural components of the nuclear lamina. HGPS is usually caused by a de novo C1824T mutation that leads to the accumulation of a dominant negative form of lamin-A called progerin. Progerin also accumulates physiologically in normal ageing cells as a rare splicing form of lamin-A transcripts. From this perspective, HGPS cells seem to be good candidates for the study of the physiological mechanisms of ageing. Progerin accumulation leads to faster cellular senescence, stem cell depletion and the progeroid phenotype. Tissues of mesodermic origin are especially affected by HGPS. HGPS patients usually have a bad quality of life and, with current treatments, their life expectancy does not exceed their second decade at best. Though progerin can be expressed in almost any tissue, when death occurs, it is usually due to cardiovascular complications. In HGPS, severe epigenetic alterations have been reported. Histone-covalent modifications are radically different from control specimens, with the tendency to lose the bipartition into euchromatin and heterochromatin. This is reflected in an altered spatial compartmentalization and conformation of chromatin within the nucleus. Moreover, it seems that microRNAs and microRNA biosynthesis might play a role in HGPS. Exemplary in this connection is the suggested protective effect of miR-9 on the central nervous system of affected individuals. This mini-review will report on the state of the art of HGPS epigenetics, and there will be a discussion of how epigenetic alterations in HGPS cells can alter the cellular metabolism and lead to the systemic syndrome.

  5. Vaccination of stage III/IV melanoma patients with long NY-ESO-1 peptide and CpG-B elicits robust CD8+ and CD4+ T-cell responses with multiple specificities including a novel DR7-restricted epitope

    Science.gov (United States)

    Baumgaertner, P.; Costa Nunes, C.; Cachot, A.; Maby-El Hajjami, H.; Cagnon, L.; Braun, M.; Derré, L.; Rivals, J.-P.; Rimoldi, D.; Gnjatic, S.; Abed Maillard, S.; Marcos Mondéjar, P.; Protti, M. P.; Romano, E.; Michielin, O.; Romero, P.; Speiser, D. E.; Jandus, C.

    2016-01-01

    ABSTRACT Long synthetic peptides and CpG-containing oligodeoxynucleotides are promising components for cancer vaccines. In this phase I trial, 19 patients received a mean of 8 (range 1–12) monthly vaccines s.c. composed of the long synthetic NY-ESO-179–108 peptide and CpG-B (PF-3512676), emulsified in Montanide ISA-51. In 18/18 evaluable patients, vaccination induced antigen-specific CD8+ and CD4+ T-cell and antibody responses, starting early after initiation of immunotherapy and lasting at least one year. The T-cells responded antigen-specifically, with strong secretion of IFNγ and TNFα, irrespective of patients' HLAs. The most immunogenic regions of the vaccine peptide were NY-ESO-189–102 for CD8+ and NY-ESO-183–99 for CD4+ T-cells. We discovered a novel and highly immunogenic epitope (HLA-DR7/NY-ESO-187–99); 7/7 HLA-DR7+ patients generated strong CD4+ T-cell responses, as detected directly ex vivo with fluorescent multimers. Thus, vaccination with the long synthetic NY-ESO-179–108 peptide combined with the strong immune adjuvant CpG-B induced integrated, robust and functional CD8+ and CD4+ T-cell responses in melanoma patients, supporting the further development of this immunotherapeutic approach. PMID:27853637

  6. Vaccination of stage III/IV melanoma patients with long NY-ESO-1 peptide and CpG-B elicits robust CD8(+) and CD4(+) T-cell responses with multiple specificities including a novel DR7-restricted epitope.

    Science.gov (United States)

    Baumgaertner, P; Costa Nunes, C; Cachot, A; Maby-El Hajjami, H; Cagnon, L; Braun, M; Derré, L; Rivals, J-P; Rimoldi, D; Gnjatic, S; Abed Maillard, S; Marcos Mondéjar, P; Protti, M P; Romano, E; Michielin, O; Romero, P; Speiser, D E; Jandus, C

    2016-01-01

    Long synthetic peptides and CpG-containing oligodeoxynucleotides are promising components for cancer vaccines. In this phase I trial, 19 patients received a mean of 8 (range 1-12) monthly vaccines s.c. composed of the long synthetic NY-ESO-179-108 peptide and CpG-B (PF-3512676), emulsified in Montanide ISA-51. In 18/18 evaluable patients, vaccination induced antigen-specific CD8(+) and CD4(+) T-cell and antibody responses, starting early after initiation of immunotherapy and lasting at least one year. The T-cells responded antigen-specifically, with strong secretion of IFNγ and TNFα, irrespective of patients' HLAs. The most immunogenic regions of the vaccine peptide were NY-ESO-189-102 for CD8(+) and NY-ESO-183-99 for CD4(+) T-cells. We discovered a novel and highly immunogenic epitope (HLA-DR7/NY-ESO-187-99); 7/7 HLA-DR7(+) patients generated strong CD4(+) T-cell responses, as detected directly ex vivo with fluorescent multimers. Thus, vaccination with the long synthetic NY-ESO-179-108 peptide combined with the strong immune adjuvant CpG-B induced integrated, robust and functional CD8(+) and CD4(+) T-cell responses in melanoma patients, supporting the further development of this immunotherapeutic approach.

  7. Ionic liquids, electrolyte solutions including the ionic liquids, and energy storage devices including the ionic liquids

    Energy Technology Data Exchange (ETDEWEB)

    Gering, Kevin L.; Harrup, Mason K.; Rollins, Harry W.

    2015-12-08

    An ionic liquid including a phosphazene compound that has a plurality of phosphorus-nitrogen units and at least one pendant group bonded to each phosphorus atom of the plurality of phosphorus-nitrogen units. One pendant group of the at least one pendant group comprises a positively charged pendant group. Additional embodiments of ionic liquids are disclosed, as are electrolyte solutions and energy storage devices including the embodiments of the ionic liquid.

  8. Perfil dos pacientes com hipertensão arterial incluídos em uma coorte com HIV/AIDS em Pernambuco, Brasil Profile of patients with hypertension included in a cohort with HIV/AIDS in the state of Pernambuco, Brazil

    Directory of Open Access Journals (Sweden)

    Evanizio Roque de Arruda Júnior

    2010-10-01

    Full Text Available FUNDAMENTO: Hipertensão arterial sistêmica (HAS é fator de risco modificável, cujo controle pode reduzir doença cardiovascular nos pacientes com vírus da imunodeficiência adquirida (HIV. OBJETIVO: Estimar a prevalência de HAS e descrever as características dos pacientes com HAS e pré-hipertensão infectados pelo HIV/AIDS. MÉTODOS: Estudo seccional alinhado a uma coorte de pacientes com HIV/AIDS. Considerou-se hipertensão em níveis > 140/90 mmHg ou uso de anti-hipertensivos e pré-hipertensão em níveis > 120/80 mmHg. RESULTADOS: Dos 958 pacientes, 388 (40,5% eram normotensos, 325 (33,9% pré-hipertensos e 245 (25,6% hipertensos. Desses 245 pacientes, 172 (70,2% sabiam ser hipertensos e 36 (14,8% apresentavam pressão arterial controlada. Tiveram diagnóstico de HAS após o diagnóstico do HIV 62 pacientes (54,4%. Lipodistrofia ocorreu em 95 (46,1% dos pacientes, já sobrepeso/obesidade em 129 (52,7%. Utilização de antirretrovirais ocorreu em 184 (85,9%, 89 (41,6% com inibidores de protease (IP e 95 (44,4% sem IP. Utilizavam antivirais > 24 meses 74,7%. Idade, antecedentes familiares de hipertensão, circunferência abdominal, índice de massa corporal e triglicerídeos foram maiores entre pacientes hipertensos. Tempo de infecção pelo HIV, contagem de linfócitos CD4, carga viral, tempo e tipo de esquema antirretroviral foram semelhantes nos hipertensos e pré-hipertensos. CONCLUSÃO: A elevada frequência de hipertensos não controlados e de riscos cardiovasculares nos infectados pelo HIV apontam a necessidade de medidas preventivas e terapêuticas contra HAS nesse grupo.BACKGROUND: Hypertension (HBP is modifiable risk factor, whose control may reduce cardiovascular disease in patients with human immunodeficiency virus (HIV. OBJECTIVE: To estimate the prevalence of hypertension and describe the characteristics of patients with hypertension infected by HIV/AIDS. METHODS: A cross-sectional study aligned to a cohort of patients

  9. Investigation into the human premature ageing disease, Hutchinson Gilford Progeria syndrome, using hTERT immortalised fibroblasts

    OpenAIRE

    Worthington, Gemma Louise

    2016-01-01

    This thesis was submitted for the award of Doctor of Philosophy and was awarded by Brunel University London Hutchinson Gilford Progeria syndrome (HGPS) is a rare premature ageing disease affecting children. 80% of “classic” HGPS patients share the same mutation in the LMNA gene that gives rise to characteristics similar to normal human ageing and they usually die in their teens from heart attacks or strokes. Cells taken from progeria patients have a short replicative lifespan in culture an...

  10. Relación entre el estado nutricional y el riesgo de presentar úlceras por presión en pacientes incluidos en el programa de atención domiciliaria = Relationship between nutritional status and the risk of having pressure ulcers in patients included in a home care program

    NARCIS (Netherlands)

    Sancho, A.; Albiol, R.; Mach Casellas, N.

    2012-01-01

    Objective: The objective of the present study was to evaluate the relationship between the nutritional status and the risk of pressure ulcers (PU) in patients within home care programs (ATDOM). We also evaluated the relationship between the level of cognitive impairment, physical dependence, underly

  11. Relación entre el estado nutricional y el riesgo de presentar úlceras por presión en pacientes incluidos en el programa de atención domiciliaria = Relationship between nutritional status and the risk of having pressure ulcers in patients included in a home care program

    NARCIS (Netherlands)

    Sancho, A.; Albiol, R.; Mach Casellas, N.

    2012-01-01

    Objective: The objective of the present study was to evaluate the relationship between the nutritional status and the risk of pressure ulcers (PU) in patients within home care programs (ATDOM). We also evaluated the relationship between the level of cognitive impairment, physical dependence, underly

  12. Relación entre el estado nutricional y el riesgo de presentar úlceras por presión en pacientes incluidos en el programa de atención domiciliaria = Relationship between nutritional status and the risk of having pressure ulcers in patients included in a home care program

    NARCIS (Netherlands)

    Sancho, A.; Albiol, R.; Mach Casellas, N.

    2012-01-01

    Objective: The objective of the present study was to evaluate the relationship between the nutritional status and the risk of pressure ulcers (PU) in patients within home care programs (ATDOM). We also evaluated the relationship between the level of cognitive impairment, physical dependence,

  13. Correspondence between future-included and future-not-included theories

    CERN Document Server

    Nagao, Keiichi

    2013-01-01

    We briefly review the correspondence principle proposed in our previous paper, which claims that if we regard a matrix element defined in terms of the future state at time $T_B$ and the past state at time $T_A$ as an expectation value in the complex action theory whose path runs over not only past but also future, the expectation value at the present time $t$ of a future-included theory for large $T_B-t$ and large $t-T_A$ corresponds to that of a future-not-included theory with a proper inner product for large $t-T_A$. This correspondence principle suggests that the future-included theory is not excluded phenomenologically.

  14. DNA repair defects and genome instability in Hutchinson-Gilford Progeria Syndrome.

    Science.gov (United States)

    Gonzalo, Susana; Kreienkamp, Ray

    2015-06-01

    The integrity of the nuclear lamina has emerged as an important factor in the maintenance of genome stability. In particular, mutations in the LMNA gene, encoding A-type lamins (lamin A/C), alter nuclear morphology and function, and cause genomic instability. LMNA gene mutations are associated with a variety of degenerative diseases and devastating premature aging syndromes such as Hutchinson-Gilford Progeria Syndrome (HGPS) and Restrictive Dermopathy (RD). HGPS is a severe laminopathy, with patients dying in their teens from myocardial infarction or stroke. HGPS patient-derived cells exhibit nuclear shape abnormalities, changes in epigenetic regulation and gene expression, telomere shortening, genome instability, and premature senescence. This review highlights recent advances in identifying molecular mechanisms that contribute to the pathophysiology of HGPS, with a special emphasis on DNA repair defects and genome instability.

  15. Electrolyte solutions including a phosphoranimine compound, and energy storage devices including same

    Energy Technology Data Exchange (ETDEWEB)

    Klaehn, John R.; Dufek, Eric J.; Rollins, Harry W.; Harrup, Mason K.; Gering, Kevin L.

    2017-09-12

    An electrolyte solution comprising at least one phosphoranimine compound and a metal salt. The at least one phosphoranimine compound comprises a compound of the chemical structure ##STR00001## where X is an organosilyl group or a tert-butyl group and each of R.sup.1, R.sup.2, and R.sup.3 is independently selected from the group consisting of an alkyl group, an aryl group, an alkoxy group, or an aryloxy group. An energy storage device including the electrolyte solution is also disclosed.

  16. The curious case of ageing

    OpenAIRE

    Dilip Gude; Aslam Abbas; MAW Zubair

    2013-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare hereditary disease characterized by multisystem involvement. Although the patients may sport normal intelligence, the disease takes a considerable toll both physically and psychologically resulting in a debilitating state. It may also be compounded by catastrophic/fatal events of accelerated atherosclerosis such as stroke and myocardial infarction. We discuss our experience with HGPS and review the literature.

  17. The curious case of ageing

    Directory of Open Access Journals (Sweden)

    Dilip Gude

    2013-01-01

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS is an extremely rare hereditary disease characterized by multisystem involvement. Although the patients may sport normal intelligence, the disease takes a considerable toll both physically and psychologically resulting in a debilitating state. It may also be compounded by catastrophic/fatal events of accelerated atherosclerosis such as stroke and myocardial infarction. We discuss our experience with HGPS and review the literature.

  18. Understanding type 2 diabetes: including the family member's perspective.

    LENUS (Irish Health Repository)

    White, Patricia

    2012-02-01

    PURPOSE: The purpose of this study was to examine the relationship between psychological and social factors and diabetes outcomes in people with type 2 diabetes and their family members. METHODS: A total of 153 patients with type 2 diabetes were assessed at a diabetes outpatient clinic and postal questionnaires were sent to nominated family members. The measures examined were diabetes knowledge, social support, well-being, and illness perceptions. RESULTS: When compared with those with diabetes, family members reported lower positive well-being and lower levels of satisfaction with support. They also perceived diabetes as a more cyclical illness, which was controlled more by treatment than by the individual. Family members also reported that the person with diabetes was more emotionally distressed and knew more about diabetes than the patient had actually reported himself or herself. There were no differences between the family members of those in good or poor glycaemic control. CONCLUSIONS: This study reinforces the importance of understanding social context and illness beliefs in diabetes management. It also highlights the potential for including family members in discussions and education about diabetes management.

  19. Genome-wide redistribution of BRD4 binding sites in transformation resistant cells

    Directory of Open Access Journals (Sweden)

    Han Si

    2015-03-01

    Full Text Available Hutchinson–Gilford progeria syndrome (HGPS patients do not develop cancer despite a significant accumulation of DNA damage in their cells. We have recently reported that HGPS cells are refractory to experimental oncogenic transformation and we identified the bromodomain-containing 4 protein (BRD4 as a mediator of the transformation resistance. ChIP-sequencing experiments revealed distinct genome-wide binding patterns for BRD4 in HGPS cells when compared to control wild type cells. Here we provide a detailed description of the ChIP-seq dataset (NCBI GEO accession number GSE61325, the specific and common BRD4 binding sites between HGPS and control cells, and the data analysis procedure associated with the publication by Fernandez et al., 2014 in Cell Reports 9, 248-260 [1].

  20. Increased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging.

    Science.gov (United States)

    Rodriguez, Sofia; Coppedè, Fabio; Sagelius, Hanna; Eriksson, Maria

    2009-07-01

    Most cases of the segmental progeroid syndrome, Hutchinson-Gilford progeria syndrome (HGPS), are caused by a de novo dominant mutation within a single codon of the LMNA gene. This mutation leads to the increased usage of an internal splice site that generates an alternative lamin A transcript with an internal deletion of 150 nucleotides, called lamin A Delta 150. The LMNA gene encodes two major proteins of the inner nuclear lamina, lamins A and C, but not much is known about their expression levels. Determination of the overall expression levels of the LMNA gene transcripts is an important step to further the understanding of the HGPS. In this study, we have performed absolute quantification of the lamins A, C and A Delta 150 transcripts in primary dermal fibroblasts from HGPS patients and unaffected age-matched and parent controls. We show that the lamin A Delta 150 transcript is present in unaffected controls but its expression is >160-fold lower than that in samples from HGPS patients. Analysis of transcript expression during in vitro aging shows that although the levels of lamin A and lamin C transcripts remain unchanged, the lamin A Delta 150 transcript increases in late passage cells from HGPS patients and parental controls. This study provides a new method for LMNA transcript analysis and insights into the expression of the LMNA gene in HGPS and normal cells.

  1. Risk Factors for Breast Cancer, Including Occupational Exposures

    Directory of Open Access Journals (Sweden)

    Elisabete Weiderpass

    2011-03-01

    Full Text Available The knowledge on the etiology of breast cancer has advanced substantially in recent years, and several etiological factors are now firmly established. However, very few new discoveries have been made in relation to occupational risk factors. The International Agency for Research on Cancer has evaluated over 900 different exposures or agents to-date to determine whether they are carcinogenic to humans. These evaluations are published as a series of Monographs (www.iarc.fr. For breast cancer the following substances have been classified as “carcinogenic to humans” (Group 1: alcoholic beverages, exposure to diethylstilbestrol, estrogen-progestogen contraceptives, estrogen-progestogen hormone replacement therapy and exposure to X-radiation and gamma-radiation (in special populations such as atomic bomb survivors, medical patients, and in-utero exposure. Ethylene oxide is also classified as a Group 1 carcinogen, although the evidence for carcinogenicity in epidemiologic studies, and specifically for the human breast, is limited. The classification “probably carcinogenic to humans” (Group 2A includes estrogen hormone replacement therapy, tobacco smoking, and shift work involving circadian disruption, including work as a flight attendant. If the association between shift work and breast cancer, the most common female cancer, is confirmed, shift work could become the leading cause of occupational cancer in women.

  2. Risk factors for breast cancer, including occupational exposures.

    Science.gov (United States)

    Weiderpass, Elisabete; Meo, Margrethe; Vainio, Harri

    2011-03-01

    The knowledge on the etiology of breast cancer has advanced substantially in recent years, and several etiological factors are now firmly established. However, very few new discoveries have been made in relation to occupational risk factors. The International Agency for Research on Cancer has evaluated over 900 different exposures or agents to-date to determine whether they are carcinogenic to humans. These evaluations are published as a series of Monographs (www.iarc.fr). For breast cancer the following substances have been classified as "carcinogenic to humans" (Group 1): alcoholic beverages, exposure to diethylstilbestrol, estrogen-progestogen contraceptives, estrogen-progestogen hormone replacement therapy and exposure to X-radiation and gamma-radiation (in special populations such as atomic bomb survivors, medical patients, and in-utero exposure). Ethylene oxide is also classified as a Group 1 carcinogen, although the evidence for carcinogenicity in epidemiologic studies, and specifically for the human breast, is limited. The classification "probably carcinogenic to humans" (Group 2A) includes estrogen hormone replacement therapy, tobacco smoking, and shift work involving circadian disruption, including work as a flight attendant. If the association between shift work and breast cancer, the most common female cancer, is confirmed, shift work could become the leading cause of occupational cancer in women.

  3. Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

    Science.gov (United States)

    McVeigh, Terri P; Banka, Siddharth; Reardon, William

    2015-10-01

    Kabuki syndrome is a rare genetic malformation syndrome that is characterized by distinct facies, structural defects and intellectual disability. Kabuki syndrome may be caused by mutations in one of two histone methyltransferase genes: KMT2D and KDM6A. We describe a male child of nonconsanguineous Irish parents presenting with multiple malformations, including bilateral extreme microphthalmia; cleft palate; congenital diaphragmatic hernia; duplex kidney; as well as facial features of Kabuki syndrome, including interrupted eyebrows and lower lid ectropion. A de-novo germline mutation in KMT2D was identified. Whole-exome sequencing failed to reveal mutations in any of the known microphthalmia/anopthalmia genes. We also identified four other patients with Kabuki syndrome and microphthalmia. We postulate that Kabuki syndrome may produce this type of ocular phenotype as a result of extensive interaction between KMT2D, WAR complex proteins and PAXIP1. Children presenting with microphthalmia/anophthalmia should be examined closely for other signs of Kabuki syndrome, especially at an age where the facial gestalt might be less readily appreciable.

  4. Early Course in Obstetrics Increases Likelihood of Practice Including Obstetrics.

    Science.gov (United States)

    Pearson, Jennifer; Westra, Ruth

    2016-10-01

    The Department of Family Medicine and Community Health Duluth has offered the Obstetrical Longitudinal Course (OBLC) as an elective for first-year medical students since 1999. The objective of the OBLC Impact Survey was to assess the effectiveness of the course over the past 15 years. A Qualtrics survey was emailed to participants enrolled in the course from 1999-2014. Data was compiled for the respondent group as a whole as well as four cohorts based on current level of training/practice. Cross-tabulations with Fisher's exact test were applied and odds ratios calculated for factors affecting likelihood of eventual practice including obstetrics. Participation in the OBLC was successful in increasing exposure, awareness, and comfort in caring for obstetrical patients and feeling more prepared for the OB-GYN Clerkship. A total of 50.5% of course participants felt the OBLC influenced their choice of specialty. For participants who are currently physicians, 51% are practicing family medicine with obstetrics or OB-GYN. Of the cohort of family physicians, 65.2% made the decision whether to include obstetrics in practice during medical school. Odds ratios show the likelihood of practicing obstetrics is higher when participants have completed the OBLC and also are practicing in a rural community. Early exposure to obstetrics, as provided by the OBLC, appears to increase the likelihood of including obstetrics in practice, especially if eventual practice is in a rural community. This course may be a tool to help create a pipeline for future rural family physicians providing obstetrical care.

  5. Hutchinson-Gilford progeria syndrome

    OpenAIRE

    Amar Singh Bhukya; Bellum Siva Nagi Reddy

    2015-01-01

    Hutchinson-Gilford Progeria syndrome (HGPS) is a rare pediatric genetic syndrome associated with a characteristic aged appearance very early in life, generally leading to death in the second decade of life. Apart from premature aging, the other notable characteristics of children with HGPS include extreme short stature, prominent superficial veins, poor weight gain, alopecia, as well as various skeletal and cardiovascular pathologies associated with advanced age. The pattern of inheritance of...

  6. Dysarthria spasm in patients with cerebral infarction including functional electrical stimulation com-bined the clinical effect of early intervention analysis%功能性电刺激联合电针早期干预对痉挛型构音障碍脑梗死患者的临床效果分析

    Institute of Scientific and Technical Information of China (English)

    鄢圣娟

    2014-01-01

    目的:探讨采用功能性电刺激联合电针早期干预对痉挛型构音障碍脑梗死患者的临床疗效。方法将132例痉挛型构音障碍脑梗死患者随机均分为两组,均给予灯盏细辛注射液静脉滴注加常规药物治疗,对照组患者在此基础上行电针治疗,研究组患者在对照组基础上行功能性电刺激联合电针治疗,比较两组临床疗效。结果治疗前两组患者MBI、NIHSS评分差异无显著性(P>0.05),治疗后MBI评分较治疗前提高,NIHSS评分较治疗前降低(P=0.000),治疗后研究组患者MBI评分高于对照组,NIHSS评分较对照组低,差异有显著性(t=6.617,P=0.000;t=2.724,P=0.007);两组治疗后Frenchay构音障碍等级较治疗前明显改善,研究组患者Frenchay构音障碍评定等级改善程度优于对照组,差异有显著性(Z=-2.235,P=0.025)。结论功能性电刺激联合电针早期干预治疗痉挛型构音障碍脑梗死具有疗效好,不良反应少等特点。%Objective To study the spastic dysarthria patients with cerebral infarction using functional electrical stimulation (FES) in combination with electric acupuncture (EA) the clinical curative effect of early intervention. Method 132 cases of cerebral infarction were spastic dysarthria patients were randomly divided into two groups, all give lamps asarum injection intravenous drip and regular medication, the control group on the basis of uplink cupping treatment, team based uplink functional electrical stimulation combined cupping treatment in the control group, compared two groups of clinical curative effect. Result The two groups before treatment MBI, NIHSS score difference has no statistical signiifcance (P>0.05), after treatment MBI scores was improved, the NIHSS score was lower (P=0.000), the team MBI scores higher than the control group after treatment, NIHSS score was lower than those of control group, the difference was

  7. Percepção da doença arterial obstrutiva periférica por pacientes classe I ou II de Fontaine de um Programa de Saúde da Família Perception of the peripheral arterial occlusive disease in Fontaine class I or II patients included in a Family Health Program

    Directory of Open Access Journals (Sweden)

    Juliana Nogueira Diniz

    2010-09-01

    Full Text Available CONTEXTO: A doença arterial obstrutiva periférica (DAOP se destaca por deteriorar a qualidade de vida dos pacientes, quando associada a elevado risco de eventos cardiovasculares e cerebrovasculares. O diagnóstico clínico é sensível e específico, por meio do índice tornozelo-braquial (ITB, que, se precocemente detectado, otimiza o controle dos fatores de risco. OBJETIVO: Avaliar a percepção da DAOP em pacientes classe I ou II de Fontaine assistidos pela Estratégia de Saúde da Família em Pará de Minas (MG, analisando características socioeconômicas e determinantes da qualidade de vida. MÉTODOS: Após cálculo amostral estratificado por gênero e idade, um questionário elaborado para o estudo foi respondido por 123 indivíduos com diagnóstico de DAOP classe I ou II de Fontaine. Para as associações, utilizaram-se testes do c² e exato de Fisher (pBACKGROUND: The peripheral arterial occlusive disease (PAOD is characterized by the deterioration in the quality of life of patients when associated with high risk of cardiovascular or cerebrovascular events. The clinical diagnosis is sensitive and specific, by means of the Ankle Brachial Pressure Index (ABPI, and, when there is early detection, the control of risk factors is optimized. OBJECTIVE: To assess the perception of PAOD in Fontaine class I or II patients by means of the Family Health Strategy in Pará de Minas (MG, Brazil, through an analysis of the socioeconomic characteristics and life quality determinants. METHODS: After the sample calculation, stratified by genre and age, a questionnaire elaborated for the purposes of this study was applied to 123 individuals who were diagnosed with Fontaine class I or II PAOD. Aiming at the associations, the c² and Fisher's exact tests were used (p<0.05. RESULTS: Among the participants who answered to the questionnaire, 96 (78% were women and had low schooling. An association between intermittent claudication, the most common symptom

  8. Mechanisms controlling the smooth muscle cell death in progeria via down-regulation of poly(ADP-ribose) polymerase 1.

    Science.gov (United States)

    Zhang, Haoyue; Xiong, Zheng-Mei; Cao, Kan

    2014-06-03

    Hutchinson-Gilford progeria syndrome (HGPS) is a severe human premature aging disorder caused by a lamin A mutant named progerin. Death occurs at a mean age of 13 y from cardiovascular problems. Previous studies revealed loss of vascular smooth muscle cells (SMCs) in the media of large arteries in a patient with HGPS and two mouse models, suggesting a causal connection between the SMC loss and cardiovascular malfunction. However, the mechanisms of how progerin leads to massive SMC loss are unknown. In this study, using SMCs differentiated from HGPS induced pluripotent stem cells, we show that HGPS SMCs exhibit a profound proliferative defect, which is primarily caused by caspase-independent cell death. Importantly, progerin accumulation stimulates a powerful suppression of PARP1 and consequently triggers an activation of the error-prone nonhomologous end joining response. As a result, most HGPS SMCs exhibit prolonged mitosis and die of mitotic catastrophe. This study demonstrates a critical role of PARP1 in mediating SMC loss in patients with HGPS and elucidates a molecular pathway underlying the progressive SMC loss in progeria.

  9. Signaling pathway activation drift during aging: Hutchinson-Gilford Progeria Syndrome fibroblasts are comparable to normal middle-age and old-age cells.

    Science.gov (United States)

    Aliper, Alexander M; Csoka, Antonei Benjamin; Buzdin, Anton; Jetka, Tomasz; Roumiantsev, Sergey; Moskalev, Alexy; Zhavoronkov, Alex

    2015-01-01

    For the past several decades, research in understanding the molecular basis of human aging has progressed significantly with the analysis of premature aging syndromes. Progerin, an altered form of lamin A, has been identified as the cause of premature aging in Hutchinson-Gilford Progeria Syndrome (HGPS), and may be a contributing causative factor in normal aging. However, the question of whether HGPS actually recapitulates the normal aging process at the cellular and organismal level, or simply mimics the aging phenotype is widely debated. In the present study we analyzed publicly available microarray datasets for fibroblasts undergoing cellular aging in culture, as well as fibroblasts derived from young, middle-age, and old-age individuals, and patients with HGPS. Using GeroScope pathway analysis and drug discovery platform we analyzed the activation states of 65 major cellular signaling pathways. Our analysis reveals that signaling pathway activation states in cells derived from chronologically young patients with HGPS strongly resemble cells taken from normal middle-aged and old individuals. This clearly indicates that HGPS may truly represent accelerated aging, rather than being just a simulacrum. Our data also points to potential pathways that could be targeted to develop drugs and drug combinations for both HGPS and normal aging.

  10. Detection of Bartonella henselae DNA in clinical samples including peripheral blood of immune competent and immune compromised patients by three nested amplifications Detecção de DNA de Bartonella henselae em amostras clínicas, incluindo sangue periférico, de pacientes imunocompetentes e imunodeprimidos por meio de três amplificações duplas

    Directory of Open Access Journals (Sweden)

    Karina Hatamoto Kawasato

    2013-02-01

    Full Text Available Bacteria of the genus Bartonella are emerging pathogens detected in lymph node biopsies and aspirates probably caused by increased concentration of bacteria. Twenty-three samples of 18 patients with clinical, laboratory and/or epidemiological data suggesting bartonellosis were subjected to three nested amplifications targeting a fragment of the 60-kDa heat shock protein (HSP, the internal transcribed spacer 16S-23S rRNA (ITS and the cell division (FtsZ of Bartonella henselae, in order to improve detection in clinical samples. In the first amplification 01, 04 and 05 samples, were positive by HSP (4.3%, FtsZ (17.4% and ITS (21.7%, respectively. After the second round six positive samples were identified by nested-HSP (26%, eight by nested-ITS (34.8% and 18 by nested-FtsZ (78.2%, corresponding to 10 peripheral blood samples, five lymph node biopsies, two skin biopsies and one lymph node aspirate. The nested-FtsZ was more sensitive than nested-HSP and nested-ITS (p Bactérias do gênero Bartonella constituem patógenos emergentes detectados em biópsias de linfonodos e secreções de gânglios provavelmente devido a maior concentração de bactérias. Vinte e três amostras de 18 pacientes com dados clínicos, laboratoriais e/ou epidemiológicos sugestivos de bartonelose foram submetidas a três amplificações duplas para a detecção de fragmento da proteína de choque térmico de 60-kDa (HSP, do espaçador interno 16S-23S rRNA (ITS e da proteína de divisão celular (FtsZ de Bartonella henselae, para melhorar a detecção em amostras clínicas. Na primeira amplificação, uma, quatro e cinco amostras, respectivamente, foram positivas pelo HSP (4,3%, FtsZ (17,4% e pelo ITS (21,7%. Com a segunda amplificação foram identificadas seis amostras positivas pelo nested-HSP (26%, oito pelo nested-ITS (34,8% e 18 pelo nested- FtsZ (78,2%, correspondentes a 10 amostras de sangue periférico, cinco biópsias de linfonodos, duas biópsias de pele e um

  11. Targeted therapy of ovarian cancer including immune check point inhibitor.

    Science.gov (United States)

    Kim, Jin Young; Cho, Chi Heum; Song, Hong Suk

    2017-08-22

    Epithelial ovarian cancer is the eighth most common cause of cancer-related deaths in women because most patients present with advanced stage disease at the time of diagnosis. Although cytoreductive surgery and platinum-based chemotherapy remain the gold standards of treatment, the recurrence rate of ovarian cancer remains high. Attempts to improve this standard two-drug chemotherapy by adding a third cytotoxic drug have failed to affect either progression-free survival or overall survival and have resulted in an increase in toxic side effects. Some anti-angiogenic agents, poly(ADP-ribose) polymerase, and immune checkpoint inhibitors have shown efficacy in early stages of development for the treatment of epithelial ovarian cancer. As demonstrated in recent clinical trials, the use of bevacizumab, cediranib, pazopanib, olaparib, and rucaparib, either alone or in combination with conventional cytotoxic agents, improves progression-free survival. Trials on immune checkpoint inhibitors such as nivolumab have revealed prolonged responses in a small set of ovarian cancer cases but require further exploration. In this review, we discuss the role of targeted therapies against ovarian cancer, including the use of immune checkpoint inhibitors.

  12. Low levels of the reverse transactivator fail to induce target transgene expression in vascular smooth muscle cells.

    Directory of Open Access Journals (Sweden)

    Nikenza Viceconte

    Full Text Available Hutchinson-Gilford progeria syndrome (HGPS is a genetic disease with multiple features that are suggestive of premature aging. Most patients with HGPS carry a mutation on one of their copies of the LMNA gene. The LMNA gene encodes the lamin A and lamin C proteins, which are the major proteins of the nuclear lamina. The organs of the cardiovascular system are amongst those that are most severely affected in HGPS, undergoing a progressive depletion of vascular smooth muscle cells, and most children with HGPS die in their early teens from cardio-vascular disease and other complications from atherosclerosis. In this study, we developed a transgenic mouse model based on the tet-ON system to increase the understanding of the molecular mechanisms leading to the most lethal aspect of HGPS. To induce the expression of the most common HGPS mutation, LMNA c.1824C>T; p.G608G, in the vascular smooth muscle cells of the aortic arch and thoracic aorta, we used the previously described reverse tetracycline-controlled transactivator, sm22α-rtTA. However, the expression of the reverse sm22α-transactivator was barely detectable in the arteries, and this low level of expression was not sufficient to induce the expression of the target human lamin A minigene. The results from this study are important because they suggest caution during the use of previously functional transgenic animal models and emphasize the importance of assessing transgene expression over time.

  13. Phenotype-Dependent Coexpression Gene Clusters: Application to Normal and Premature Ageing.

    Science.gov (United States)

    Wang, Kun; Das, Avinash; Xiong, Zheng-Mei; Cao, Kan; Hannenhalli, Sridhar

    2015-01-01

    Hutchinson Gilford progeria syndrome (HGPS) is a rare genetic disease with symptoms of aging at a very early age. Its molecular basis is not entirely clear, although profound gene expression changes have been reported, and there are some known and other presumed overlaps with normal aging process. Identification of genes with agingor HGPS-associated expression changes is thus an important problem. However, standard regression approaches are currently unsuitable for this task due to limited sample sizes, thus motivating development of alternative approaches. Here, we report a novel iterative multiple regression approach that leverages co-expressed gene clusters to identify gene clusters whose expression co-varies with age and/or HGPS. We have applied our approach to novel RNA-seq profiles in fibroblast cell cultures at three different cellular ages, both from HGPS patients and normal samples. After establishing the robustness of our approach, we perform a comparative investigation of biological processes underlying normal aging and HGPS. Our results recapitulate previously known processes underlying aging as well as suggest numerous unique processes underlying aging and HGPS. The approach could also be useful in detecting phenotype-dependent co-expression gene clusters in other contexts with limited sample sizes.

  14. Hutchinson-Gilford progeria syndrome, cardiovascular disease and oxidative stress.

    Science.gov (United States)

    Trigueros-Motos, Laia; Gonzalez, Jose M; Rivera, Jose; Andres, Vicente

    2011-06-01

    Hutchinson-Gilford Progeria Syndrome (HGPS), a rare human disease characterized by premature aging, is mainly caused by the abnormal accumulation of progerin, a mutant form of the mammalian nuclear envelope component lamin A. HGPS patients exhibit vascular alterations and die at an average age of 13 years, predominantly from myocardial infarction or stroke. Animal models of HGPS have been a valuable tool in the study of the pathological processes implicated in the origin of this disease and its associated cardiovascular alterations. Some of the molecular mechanisms of HGPS might be relevant to the process of normal aging, since progerin is detected in cells from normal elderly humans. Conversely, processes linked to normal aging, such as the increase in oxidative stress, might be relevant to the pathogenic mechanisms of HGPS. In this review, we discuss recent advances in the understanding of the molecular mechanisms underlying the cardiovascular alterations associated with HGPS, the potential role of oxidative stress, and therapeutic approaches for the treatment of this devastating disease.

  15. Metformin Alleviates Aging Cellular Phenotypes in Hutchinson-Gilford Progeria Syndrome Dermal Fibroblasts.

    Science.gov (United States)

    Park, Seul-Ki; Shin, Ok Sarah

    2017-02-13

    Metformin is a popular antidiabetic biguanide, which has been considered as a candidate drug for cancer treatment and aging prevention. Hutchinson-Gilford progeria syndrome (HGPS) is a devastating disease characterized by premature aging and severe age-associated complications leading to death. The effects of metformin on HGPS dermal fibroblasts remain largely undefined. In this study, we investigated whether metformin could exert a beneficial effect on nuclear abnormalities and delay senescence in fibroblasts derived from HGPS patients. Metformin treatment partially restored normal nuclear phenotypes, delayed senescence, activated the phosphorylation of AMP-activated protein kinase, and decreased reactive oxygen species formation in HGPS dermal fibroblasts. Interestingly, metformin reduced the number of phosphorylated histone variant H2AX-positive DNA damage foci and suppressed progerin protein expression, compared to the control. Furthermore, metformin-supplemented aged mice showed higher splenocyte proliferation and mRNA expression of the antioxidant enzyme, superoxide dismutase 2 than the control mice. Collectively, our results show that metformin treatment alleviates the nuclear defects and premature aging phenotypes in HGPS fibroblasts. Thus, metformin can be considered a promising therapeutic approach for life extension in HGPS. This article is protected by copyright. All rights reserved.

  16. Genome-scale expression profiling of Hutchinson-Gilford progeria syndrome reveals widespread transcriptional misregulation leading to mesodermal/mesenchymal defects and accelerated atherosclerosis.

    Science.gov (United States)

    Csoka, Antonei B; English, Sangeeta B; Simkevich, Carl P; Ginzinger, David G; Butte, Atul J; Schatten, Gerald P; Rothman, Frank G; Sedivy, John M

    2004-08-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disease with widespread phenotypic features resembling premature aging. HGPS was recently shown to be caused by dominant mutations in the LMNA gene, resulting in the in-frame deletion of 50 amino acids near the carboxyl terminus of the encoded lamin A protein. Children with this disease typically succumb to myocardial infarction or stroke caused by severe atherosclerosis at an average age of 13 years. To elucidate further the molecular pathogenesis of this disease, we compared the gene expression patterns of three HGPS fibroblast cell strains heterozygous for the LMNA mutation with three normal, age-matched cell strains. We defined a set of 361 genes (1.1% of the approximately 33,000 genes analysed) that showed at least a 2-fold, statistically significant change. The most prominent categories encode transcription factors and extracellular matrix proteins, many of which are known to function in the tissues severely affected in HGPS. The most affected gene, MEOX2/GAX, is a homeobox transcription factor implicated as a negative regulator of mesodermal tissue proliferation. Thus, at the gene expression level, HGPS shows the hallmarks of a developmental disorder affecting mesodermal and mesenchymal cell lineages. The identification of a large number of genes implicated in atherosclerosis is especially valuable, because it provides clues to pathological processes that can now be investigated in HGPS patients or animal models.

  17. Combination DMARD therapy including corticosteroids in early rheumatoid arthritis.

    Science.gov (United States)

    Möttönen, T T; Hannonen, P J; Boers, M

    1999-01-01

    A number of reports indicating the growing acceptance of simultaneous therapy with multiple disease-modifying anti-rheumatic drugs (DMARDs), as well as the use of more aggressive treatment measures in the early phases of disease to combat rheumatoid arthritis (RA), have appeared during the last decade. However, only a few randomized controlled clinical trials have been conducted on the use of DMARD combinations in early RA. We review these trials in this article. In two separate one-year studies combination therapy with sulphasalazine (SSZ) and methotrexate (MTX) seemed to offer no benefits compared to either drug used as monotherapy. On the other hand, the DMARD combinations so far proven to be superior to single DMARDs have initially also included a corticosteroid component. In the COBRA study (Combinatietherapie Bij Reumatoide Artritis) the combination of SSZ (2 gm/day), MTX (7.5 mg/week for 40 weeks), and prednisolone (Prd) (initially 60 mg/day, tapered in 6 weekly steps to 7.5 mg/day and stopped after 28 weeks) compared to SSZ alone (2 gm/day) resulted in significantly better clinical outcomes at week 28. Although the difference in clinical response between the treatment arms was lost at week 58, the progression of joint damage remained statistically significantly slower at week 80 in the patients initially assigned to the combination therapy. Furthermore, in the FIN-RACo trial (Finnish Rheumatoid Arthritis Combination Therapy Trial), therapy using a "tailored-steps" strategy with SSZ (1-2 gm/day), MTX (7.5-1.5 mg/week), hydroxychloroquine (300 mg/day), and Prd (up to 10 mg/day) yielded a significantly increased remission rate and less peripheral joint damage at two years than the single DMARD treatment strategy (initially SSZ 2 gm/day), with or without Prd. Adverse effects in both study arms were comparable. Two additional preliminary reports (in abstract form) suggest that intensive local therapy in the form of intra-articular injections added to single or

  18. Combined chemotherapy including platinum derivatives for medulloblastoma. The usefulness as maintenance chemotherapy

    Energy Technology Data Exchange (ETDEWEB)

    Sasaki, Hikaru; Otani, Mitsuhiro; Yoshida, Kazunari; Kagami, Hiroshi; Shimazaki, Kenji; Toya, Shigeo; Kawase, Takeshi [Keio Univ., Tokyo (Japan). School of Medicine

    1997-02-01

    The authors reviewed 24 cerebellar medulloblastoma patients treated at Keio University to determine usefulness of combined chemotherapy including platinum derivatives (cisplatin, carboplatin) as the induction and maintenance treatment. All patients underwent radical surgery and craniospinal irradiation. Ten received adjuvant chemotherapy other than platinum derivatives (mainly with nitrosourea compounds), five were treated by induction and maintenance chemotherapy including platinum derivatives, and nine patients did not undergo chemotherapy. The progression-free survival rate of patients treated with platinum derivatives was better than that of patients treated with other modes of chemotherapy and also that of patients who did not receive chemotherapy. The results were especially good in the case of four patients treated with maintenance chemotherapy consisting of carboplatin and etoposide, two of whom had been free from relapse beyond the risk period of Collins. The occurrences of toxicity in maintenance chemotherapy with carboplatin and etoposide were limited to transient leucopenia. The present study indicates combined chemotherapy including platinum derivatives benefits patients with medulloblastoma, and could be useful, especially as maintenance treatment. (author)

  19. Cytokine Expression of Microscopic Colitis Including Interleukin-17

    OpenAIRE

    Park, Eunkyoung; Park, Young Sook; Park, Dae Rim; Jung, Sung Ae; Han, Dong Soo; Jang, Byung Ik; Kim, Young Ho; Kim, Won Ho; Jo, Yun Ju; Lee, Ki Ho; Lee, Won Mi; Kim, Eun Kyung; Koo, Hae Soo

    2014-01-01

    Background/Aims Microscopic colitis is characterized by chronic watery diarrhea with specific pathological changes that can be diagnosed by microscopic examination. We performed immunohistochemical analysis of proinflammatory cytokines to investigate the pathogenic mechanism of microscopic colitis. Methods This study consisted of six patients with lymphocytic colitis, six patients with collagenous colitis, and six patients with functional diarrhea but normal pathology. We performed an immunoh...

  20. A Remarkable Improvement of Patients with Idiopathic Thrombocytopenic Purpura after appendectomy including Carcinoid tumor

    OpenAIRE

    Hamidreza Alizadeh-Otaghvar; Saeedeh Firoozbakht; Sahar Montazeri; Samaneh Khazraie; Marjan Bani Ahmad; Maryam Hajiloo

    2011-01-01

    The assistance of chronic idiopathic thrombocytopenic purpura and appendiceal carcinoid tumor is so rare and has not been reported before .we present here in a 11 year old boy that is the known case of chronic idiopathic thrombocytopenic purpura (with the platelet count of 20000 when admitted). He reffered due to anorexia, pain and tenderness of right lower quadrant of abdomen and vomiting. He also had leukocytosis and abdominal free fluid in sonographic report. These findings suggested the d...

  1. Study of Three Cases of Hutchinson - Gilford Progeria Syndrome in A Guangxi Han Family:Analysis of Mitochondrial DNA D-loop Region Mutations%广西汉族早老症家系三例病例研究--线粒体 DNAD -环区突变分析

    Institute of Scientific and Technical Information of China (English)

    李福记; 方玲; 胡启平; 袁志刚; 舒伟; 吴华裕; 韩焕钦; 陈凤平; 覃霞; 吕宇; 林有坤; 舒艳; 张伟峰

    2015-01-01

    before they turned 7 years old,and no age -related mutation accumulation was found in patients of different age stages. This may lead to a conclusion that mtDNA mutation is not a major reason for the accelerated aging of the three HGPS patients in this family.

  2. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy

    NARCIS (Netherlands)

    Stamberger, H.; Nikanorova, M.; Willemsen, M.H.; Accorsi, P.; Angriman, M.; Baier, H.; Benkel-Herrenbrueck, I.; Benoit, V.; Budetta, M.; Caliebe, A.; Cantalupo, G.; Capovilla, G.; Casara, G.; Courage, C.; Deprez, M.; Destree, A.; Dilena, R.; Erasmus, C.E.; Fannemel, M.; Fjaer, R.; Giordano, L.; Helbig, K.L.; Heyne, H.O.; Klepper, J.; Kluger, G.J.; Lederer, D.; Lodi, M.; Maier, O.; Merkenschlager, A.; Michelberger, N.; Minetti, C.; Muhle, H.; Phalin, J.; Ramsey, K.; Romeo, A.; Schallner, J.; Schanze, I.; Shinawi, M.; Sleegers, K.; Sterbova, K.; Syrbe, S.; Traverso, M.; Tzschach, A.; Uldall, P.; Coster, R. van; Verhelst, H.; Viri, M.; Winter, S.; Wolff, M.; Zenker, M.; Zoccante, L.; Jonghe, P. De; Helbig, I.; Striano, P.; Lemke, J.R.; Moller, R.S.; Weckhuysen, S.

    2016-01-01

    OBJECTIVE: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and previously reported patients. METHODS: We recruited newly diagnosed patients with STXBP1 mutations through an international network o

  3. Multidisciplinary treatment including chemoradiotherapy for advanced esophageal cancer

    Energy Technology Data Exchange (ETDEWEB)

    Kobayashi, Kenji; Fukuda, Kazuhiro; Kikkawa, Nobuteru; Kobayashi, Tetsurou; Yagyu, Toshio; Hasuike, Yasunori; Mishima, Hideyuki; Shin, Eisei [Osaka National Hospital (Japan)

    1997-03-01

    Over 3 years, concurrent chemoradiotherapy was performed in 16 patients with advanced esophageal cancer (clinical Stage IV) and suspected noncurative resection. The subjects were {>=}A3 or N3, or were stage IV with distant metastasis on preoperative diagnosis. Two courses of 5FU and CDDP were given with concurrent radiotherapy. The predominant side effects were nausea, vomiting and anorexia. Mild or moderate leukopenia also occurred. The response was complete remission (CR) in two patients, partial remission (PR) in eight, minor response (MR) in two, no change (NC) in two and progressive disease (PD) in two. The overall response rate was 62.5%. Esophagectomy was performed in four patients (histological stage II in one, stage III in one, and stage IV in two). Two of 4 resected patients are alive (33.8 months), while the other died of unrelated causes. One of the 6 non-resected PR patients has survived for 18 months, but all other patients died of cancer within nine months of starting treatment. The survival rate of 16 patients undergoing chemoradiotherapy was 16.7% at one and two years. Thus, chemoradiotherapy may improve the prognosis of advanced esophageal cancer with suspected noncurative resection by increasing the response rate and the curative resection rate. (author)

  4. Linear scleroderma en coup de sabre including abnormal dental development

    DEFF Research Database (Denmark)

    Hørberg, M; Lauesen, S R; Daugaard-Jensen, J

    2015-01-01

    diagnostics and treatment. The SCS skin lesion affected the left side of her hairline over the forehead and nose, involving the left orbit proceeding towards the left oral region. Dental clinical/radiographic examination revealed malformed left maxillary incisors with short roots and lack of eruption. FOLLOW......-UP: The patient has been regularly controlled and treated since she was first diagnosed. A surgical and orthodontic treatment was performed to ensure optimal occlusion, space and alveolar bone development. The present age of the patient is 14 years and 10 months. CONCLUSION: This case demonstrated a patient...

  5. Should Relational Aggression Be Included in DSM-V?

    Science.gov (United States)

    Keenan, Kate; Coyne, Claire; Lahey, Benjamin B.

    2008-01-01

    The study examines whether relational aggression should be included in DSM-V disruptive behavior disorders. The results conclude that some additional information is gathered from assessing relational aggression but not enough to be included in DSM-V.

  6. Haemophilus influenzae Disease (Including Hib) Diagnosis and Treatment

    Science.gov (United States)

    ... Search The CDC Cancel Submit Search The CDC Haemophilus influenzae Disease (Including Hib) Note: Javascript is disabled or ... Compartir On this Page Diagnosis Treatment Complications Diagnosis Haemophilus influenzae , including Hib, disease is usually diagnosed with one ...

  7. Should Relational Aggression Be Included in DSM-V?

    Science.gov (United States)

    Keenan, Kate; Coyne, Claire; Lahey, Benjamin B.

    2008-01-01

    The study examines whether relational aggression should be included in DSM-V disruptive behavior disorders. The results conclude that some additional information is gathered from assessing relational aggression but not enough to be included in DSM-V.

  8. Partially ionized plasmas including the third symposium on uranium plasmas

    Energy Technology Data Exchange (ETDEWEB)

    Krishnan, M. [ed.

    1976-09-01

    Separate abstracts are included for 28 papers on electrically generated plasmas, fission generated plasmas, nuclear pumped lasers, gaseous fuel reactor research, and applications. Five papers have been previously abstracted and included in ERA.

  9. Faults of Europe including Turkey (flt4_2l)

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — This coverage includes arcs that describe faults found in the surface outcrops of bedrock of Europe including Turkey (Albania, Andorra, Austria, Belgium, Bosnia and...

  10. Review of EGFR TKIs in metastatic NSCLC, including ongoing trials

    Directory of Open Access Journals (Sweden)

    Barbara eMelosky

    2014-09-01

    Full Text Available Recent clinical trials have demonstrated the efficacy of epidermal growth factor receptor (EGFR tyrosine kinase inhibitors (TKI in the treatment of patients with advanced metastatic non-small cell lung cancer. Most of these recent trials were conducted in patients with EGFR mutation-positive tumours. As our knowledge of the EGFR mutation and its resistant pathways develops, the complexity of the situation expands. This article briefly reviews the pivotal trials leading to approval of EGFR TKIs in the first-line setting for patients with EGFR mutation-positive non-small cell lung carcinomas. It discusses the historical use of EGFR TKIs after the first line setting in unselected patients and briefly describes ongoing trials.

  11. Acupuncture Alleviated the Nonmotor Symptoms of Parkinson’s Disease including Pain, Depression, and Autonomic Symptoms

    OpenAIRE

    Chifumi Iseki; Taiga Furuta; Masao Suzuki; Shingo Koyama; Keiji Suzuki; Tomoko Suzuki; Akiyo Kaneko; Tadamichi Mitsuma

    2014-01-01

    A woman started to feel intractable pain on her lower legs when she was 76. At the age of 78, she was diagnosed as having Parkinson’s disease (PD). The leg pain was suspected to be a symptom of PD after eliminating other causes. The patient also suffered from nonmotor symptoms, depression, anxiety, hot flashes, and paroxysmal sweating. Though the patient had received pharmacotherapy including levodopa for 5 years, she still suffered from the nonmotor symptoms and was referred to our departmen...

  12. TUMOR NECROSIS FACTOR-α INHIBITORS IN THE TREATMENT OF AXIAL SPONDYLOARTHRITIS, INCLUDING ANKYLOSING SPONDYLITIS

    Directory of Open Access Journals (Sweden)

    S. A. Lapshina

    2016-01-01

    Full Text Available The paper provides guidelines for the use of tumor necrosis factor-α  (TNF-α inhibitors in the treatment of patients with axial spondyloarthritis  (axSpA, including ankylosing spondylitis. It gives data on the efficacy of TNF-α inhibitors in patients with non-radiographic axSpA. By using international and Russian guidelines, the authors lay down indications for this therapy and criteria for evaluation of its efficiency and safety.

  13. Submental Intubation Including Extubation: Airway Complications of Maxillomandibular Fixation

    Directory of Open Access Journals (Sweden)

    Santosh Kumar Yadav

    2012-01-01

    Full Text Available Hernandez first described the submental route for endotracheal intubation in 1986 as an alternative airway maneuver for maxillofacial procedures. Since that time, several case studies have been performed demonstrating the efficacy of the submental approach. This method was recently implemented in the case of a patient with altered nasal anatomy who sustained a mandibular fracture necessitating maxillomandibular fixation. Unlike most of the cases described in the literature, this patient’s operative course was confounded by the need to extubate through the submental tunnel. The patient tolerated the procedure well and was able to avoid other forms of surgical airway.

  14. Patient empowerment

    DEFF Research Database (Denmark)

    Eskildsen, Nanna Bjerg; Joergensen, Clara Ruebner; Thomsen, Thora Grothe

    2017-01-01

    assessing empowerment from the user perspective. The aim of this review was to identify questionnaires and subscales measuring empowerment and manifestations of empowerment among cancer patients. MATERIALS AND METHODS: We conducted a systematic search of the PubMed, PsycINFO and CINAHL databases......BACKGROUND: There is an increased attention to and demand for patient empowerment in cancer treatment and follow-up programs. Patient empowerment has been defined as feeling in control of or having mastery in relation to cancer and cancer care. This calls for properly developed questionnaires....... Empowerment and multiple search terms associated with empowerment were included. We included peer-reviewed articles published in English, which described questionnaires measuring empowerment or manifestations of empowerment in a cancer setting. In addition, the questionnaire had to be a patient...

  15. 20 CFR 404.1312 - World War II service included.

    Science.gov (United States)

    2010-04-01

    ... 20 Employees' Benefits 2 2010-04-01 2010-04-01 false World War II service included. 404.1312... DISABILITY INSURANCE (1950- ) Wage Credits for Veterans and Members of the Uniformed Services World War II Veterans § 404.1312 World War II service included. Your service was in the active service of the...

  16. 31 CFR 103.51 - Dollars as including foreign currency.

    Science.gov (United States)

    2010-07-01

    ... 31 Money and Finance: Treasury 1 2010-07-01 2010-07-01 false Dollars as including foreign currency... RECORDKEEPING AND REPORTING OF CURRENCY AND FOREIGN TRANSACTIONS General Provisions § 103.51 Dollars as including foreign currency. Wherever in this part an amount is stated in dollars, it shall be deemed to...

  17. 26 CFR 1.1013-1 - Property included in inventory.

    Science.gov (United States)

    2010-04-01

    ... 26 Internal Revenue 11 2010-04-01 2010-04-01 true Property included in inventory. 1.1013-1 Section... inventory. The basis of property required to be included in inventory is the last inventory value of such property in the hands of the taxpayer. The requirements with respect to the valuation of an inventory...

  18. 7 CFR 1437.303 - Aquaculture, including ornamental fish.

    Science.gov (United States)

    2010-01-01

    ... 7 Agriculture 10 2010-01-01 2010-01-01 false Aquaculture, including ornamental fish. 1437.303... ASSISTANCE PROGRAM Determining Coverage Using Value § 1437.303 Aquaculture, including ornamental fish. (a) Aquaculture is a value loss crop and is compensable only in accord with restrictions set in this...

  19. 25 CFR 20.403 - What do protective services include?

    Science.gov (United States)

    2010-04-01

    .../services, including Child Protection, and/or establishing Multi-Disciplinary Teams. (b) Must include, where... circumstances and abilities and the extent to which the account holder needs assistance in managing his or her financial affairs; and (2) Managing supervised IIM accounts of children and adults (in conjunction with...

  20. Solar Energy Education. Reader, Part II. Sun story. [Includes glossary

    Energy Technology Data Exchange (ETDEWEB)

    1981-05-01

    Magazine articles which focus on the subject of solar energy are presented. The booklet prepared is the second of a four part series of the Solar Energy Reader. Excerpts from the magazines include the history of solar energy, mythology and tales, and selected poetry on the sun. A glossary of energy related terms is included. (BCS)

  1. Making Way and Making Sense: Including Newcomers in Interaction

    Science.gov (United States)

    Pillet-Shore, Danielle

    2010-01-01

    In our everyday interactions as they unfold in real time, how do we do including? This article examines a specific set of interactional moments when the potential to be included (or not) recurs: when a newcomer arrives to some social scene where two or more already-present persons are actively engaged in some activity and that newcomer displays…

  2. Including All Children in Standards-Based Physical Education.

    Science.gov (United States)

    Johnson, Lynn V.; Kasser, Susan L.; Nichols, Beverly A.

    2002-01-01

    Discusses the inclusion of students with and without disabilities in physical education as the movement toward standards-based education progresses, examining whether standards should be applied to all students, obstacles to including all students, ways to include all students, and the importance of standards for teachers. An example of inclusive…

  3. Including Students with Disabilities. ERIC Mini-Bib EB14.

    Science.gov (United States)

    Sorenson, Barbara R., Comp.

    This annotated bibliography lists 19 publications to help educators more effectively include students with disabilities in general education classrooms. The publications, including books, journal articles, videotapes, and reports, are dated from 1993 through 1999, and most are available through the ERIC (Educational Resources Information Center)…

  4. Microfluidic devices and methods including porous polymer monoliths

    Science.gov (United States)

    Hatch, Anson V; Sommer, Gregory J; Singh, Anup K; Wang, Ying-Chih; Abhyankar, Vinay V

    2014-04-22

    Microfluidic devices and methods including porous polymer monoliths are described. Polymerization techniques may be used to generate porous polymer monoliths having pores defined by a liquid component of a fluid mixture. The fluid mixture may contain iniferters and the resulting porous polymer monolith may include surfaces terminated with iniferter species. Capture molecules may then be grafted to the monolith pores.

  5. The accumulation of un-repairable DNA damage in laminopathy progeria fibroblasts is caused by ROS generation and is prevented by treatment with N-acetyl cysteine.

    Science.gov (United States)

    Richards, Shane A; Muter, Joanne; Ritchie, Pamela; Lattanzi, Giovanna; Hutchison, Christopher J

    2011-10-15

    Fibroblasts from patients with the severe laminopathy diseases, restrictive dermopathy (RD) and Hutchinson Gilford progeria syndrome (HGPS), are characterized by poor growth in culture, the presence of abnormally shaped nuclei and the accumulation of DNA double-strand breaks (DSB). Here we show that the accumulation of DSB and poor growth of the fibroblasts but not the presence of abnormally shaped nuclei are caused by elevated levels of reactive oxygen species (ROS) and greater sensitivity to oxidative stress. Basal levels of ROS and sensitivity to H(2)O(2) were compared in fibroblasts from normal, RD and HGPS individuals using fluorescence activated cell sorting-based assays. Basal levels of ROS and stimulated levels of ROS were both 5-fold higher in the progeria fibroblasts. Elevated levels of ROS were correlated with lower proliferation indices but not with the presence of abnormally shaped nuclei. DSB induced by etoposide were repaired efficiently in normal, RD and HGPS fibroblasts. In contrast, DSB induced by ROS were repaired efficiently in normal fibroblasts, but in RD and HGPS fibroblasts many ROS-induced DSB were un-repairable. The accumulation of ROS-induced DSB appeared to cause the poor growth of RD and HGPS fibroblasts, since culture in the presence of the ROS scavenger N-acetyl cysteine (NAC) reduced the basal levels of DSB, eliminated un-repairable ROS-induced DSB and greatly improved population-doubling times. Our findings suggest that un-repaired ROS-induced DSB contribute significantly to the RD and HGPS phenotypes and that inclusion of NAC in a combinatorial therapy might prove beneficial to HGPS patients.

  6. Prognostic factors of infantile spasms: role of treatment options including a ketogenic diet.

    Science.gov (United States)

    Lee, Jeehun; Lee, Jun Hwa; Yu, Hee Jun; Lee, Munhyang

    2013-09-01

    The aim of this study was to provide additional evidences on prognostic factors for infantile spasms and the possible role of a ketogenic diet. A retrospective analysis was performed for patients with infantile spasms who had been followed up for more than 6months between January 2000 and July 2012 at Samsung Medical Center (Seoul, Republic of Korea). We analyzed the association between possible prognostic factors and seizure/developmental outcomes. Sixty-nine patients were included in this study and their mean follow-up duration was 52.5 (9-147) months. In the patients who had been followed up for more than 2years, 53.6% (n=30/57) remained seizure-free at the last visit. Sixty patients (86.9%) showed developmental delay at last follow-up. Forty-two patients (60.9%) became spasm-free with one or two antiepileptic drugs, one patient with epilepsy surgery for a tumor, and seven patients with a ketogenic diet after the failure of two or more antiepileptic drugs. The etiology and age of seizure onset were the significant prognostic factors. In this study, about 60% of the patients became spasm-free with vigabatrin and topiramate. Ketogenic diet increased the rate by 10% in the remaining antiepileptic drug resistant patients. However, 86.9% of the patients showed developmental delay, mostly a severe degree. Early diagnosis and prompt application of treatment options such as antiepileptic drugs, a ketogenic diet or epilepsy surgery can improve outcomes in patients with infantile spasms. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  7. Electric drive systems including smoothing capacitor cooling devices and systems

    Energy Technology Data Exchange (ETDEWEB)

    Dede, Ercan Mehmet; Zhou, Feng

    2017-02-28

    An electric drive system includes a smoothing capacitor including at least one terminal, a bus bar electrically coupled to the at least one terminal, a thermoelectric device including a first side and a second side positioned opposite the first side, where the first side is thermally coupled to at least one of the at least one terminal and the bus bar, and a cooling element thermally coupled to the second side of the thermoelectric device, where the cooling element dissipates heat from the thermoelectric device.

  8. Thermal swing reactor including a multi-flight auger

    Energy Technology Data Exchange (ETDEWEB)

    Ermanoski, Ivan

    2017-03-07

    A thermal swing reactor including a multi-flight auger and methods for solar thermochemical reactions are disclosed. The reactor includes a multi-flight auger having different helix portions having different pitch. Embodiments of reactors include at least two distinct reactor portions between which there is at least a pressure differential. In embodiments, reactive particles are exchanged between portions during a reaction cycle to thermally reduce the particles at first conditions and oxidize the particles at second conditions to produce chemical work from heat.

  9. High performance, durable polymers including poly(phenylene)

    Energy Technology Data Exchange (ETDEWEB)

    Fujimoto, Cy; Pratt, Harry; Anderson, Travis Mark

    2017-02-28

    The present invention relates to functionalized polymers including a poly(phenylene) structure. In some embodiments, the polymers and copolymers of the invention include a highly localized concentration of acidic moieties, which facilitate proton transport and conduction through networks formed from these polymers. In addition, the polymers can include functional moieties, such as electron-withdrawing moieties, to protect the polymeric backbone, thereby extending its durability. Such enhanced proton transport and durability can be beneficial for any high performance platform that employs proton exchange polymeric membranes, such as in fuel cells or flow batteries.

  10. Outcome following kyphoplasty or vertebral body stenting with special regard to associated complications including their treatment strategy

    DEFF Research Database (Denmark)

    Lehmann, C.; Strohm, P.; Knöller, S.

    2011-01-01

    were included. The mean age at the time of operation was 74 years, 76 % were women and 24 % were men. 51 patients with 60 vertebral body fractures out of 128 patients with 147 vertebral body fractures took part in the survey. 17 patients declined participation, 60 patients were not available...... of vertebral fractures should be analyzed before an operation to possibly avoid a secondary intervention....

  11. Should spinocerebellar ataxias be included in the differential diagnosis for Huntington's diseases-like syndromes?

    Science.gov (United States)

    Pedroso, José Luiz; de Freitas, Maria Eliza Thomaz; Albuquerque, Marcus Vinicius Cristino; Saraiva-Pereira, Maria Luiza; Jardim, Laura Bannach; Barsottini, Orlando G P

    2014-12-15

    In this article, we describe three patients with different spinocerebellar ataxia (SCA) subtypes presenting with unusual movement disorders predominantly characterized by choreoathetosis, which, together with their autosomal dominant pattern of inheritance, resembled the Huntington-like syndromes. From a large SCA cohort, we have observed chorea in 1/35 SCA2, 1/112 SCA3/MJD, and 1/30 SCA7 patients. Twenty-eight patients with SCA1, 11 patients with SCA6, and 3 patients with SCA10 were also evaluated, and none of them presented chorea. We provide a brief report of the three cases, with a video demonstrating chorea. Although a debate regarding the frequency of chorea in SCA patients is a fact, its occurrence, together with the autosomal dominant pattern of inheritance, clearly imposes SCA in the differentials of Huntington-like syndromes. There is some debate about what to include in a list of Huntington-like disorders, with several review articles about Huntington-like syndromes not including SCA in the differential diagnosis, except for SCA17. We believe that SCAs-at least SCA1, SCA2, SCA3/MJD, SCA7 and DRPLA-should be thought in the diagnostic workout of at least the atypical cases, such as those presented in this report.

  12. Chronic Obstructive Pulmonary Disease (COPD) Includes: Chronic Bronchitis and Emphysema

    Science.gov (United States)

    ... Home Chronic Obstructive Pulmonary Disease (COPD) Includes: Chronic Bronchitis and Emphysema Recommend on Facebook Tweet Share Compartir ... U.S. Morbidity Number of adults with diagnosed chronic bronchitis in the past year: 9.3 million Percent ...

  13. Post-Polio Health International including International Ventilator Users Network

    Science.gov (United States)

    ... Place Explore the past, the present and help build a promising future for the world’s polio survivors. ... Polio Health International (PHI) Including International Ventilator Users Network 4207 Lindell Blvd., #110, Saint Louis, MO 63108- ...

  14. Should LSP Dictionaries also Include Professional Jargon and Slang?

    African Journals Online (AJOL)

    tional slang, as popular names for items of nomenclature, and also as trade names. ... and animals), in chemistry (the periodical system of elements, or the IUPAC .... includes new coinages from business journals and journalists' jargon which.

  15. When Should Zero Be Included on a Scale Showing Magnitude?

    Science.gov (United States)

    Kozak, Marcin

    2011-01-01

    This article addresses an important problem of graphing quantitative data: should one include zero on the scale showing magnitude? Based on a real time series example, the problem is discussed and some recommendations are proposed.

  16. Diabetes Nutrition: Including Sweets in Your Meal Plan

    Science.gov (United States)

    ... and stick to a healthy meal plan. Artificial sweeteners Examples of artificial sweeteners include: Acesulfame potassium (Sunett, ... can cause diarrhea in some people. Naturally derived sweeteners Naturally derived sweeteners, stevia (Truvia, PureVia) and agave ...

  17. Strategies to include sexual orientation and gender identity in health ...

    African Journals Online (AJOL)

    2015-05-04

    May 4, 2015 ... abuse, and are at higher risk for sexually transmitted diseases, including. HIV.[2] Because of mistrust in the ... [5,6] In countries where legislation penalises .... HIV/ STI risks. Discuss health prevention needs of transgender men.

  18. Good Security Practices for Electronic Commerce, Including Electronic Data Interchange

    Science.gov (United States)

    1993-12-01

    FROM - TO) xx-xx-2002 to xx-xx-2002 4. TITLE AND SUBTITLE Good Security Practices for Electronic Commerce , Including Electronic Data Interchange...Report 12/1/1993 4. TITLE AND SUBTITLE Good Security Practices for Electronic Commerce , Including Electronic Data Interchange 5. FUNDING NUMBERS 6...Maximum 200 Words) Electronic commerce (EC) is the use of documents in electronic form, rather than paper, for carrying out functions of business or

  19. p.Pro4Arg mutation in LMNA gene: a new atypical progeria phenotype without metabolism abnormalities.

    Science.gov (United States)

    Guo, Hong; Luo, Na; Hao, Fei; Bai, Yun

    2014-08-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a typical presenile disorder, with mutation in the LMNA gene. Besides HGPS, mutations in LMNA gene have also been reported in atypical progeroid syndrome (APS). The objective of the study was to investigate the phenotype and molecular basis of APS in a Chinese family. LMNA gene mutations were also reviewed to identify the phenotypic and pathogenic differences among APS. Two siblings in a non-consanguineous Chinese family with atypical progeria were reported. The clinical features were observed, including presenile manifestations such as bird-like facial appearance, generalized lipodystrophy involving the extremities and mottled hyperpigmentation on the trunk and extremities. A heterozygous mutation c.11C>G (p.Pro4Arg) of the LMNA gene was detected in the two patients. 28 different variants of the LMNA gene have been reported in APS families, spreading over almost all the 12 exons of the LMNA gene with some hot-spot regions. This is the first detailed description of an APS family without metabolism abnormalities. APS patients share most of the clinical features, but there may be some distinct features in different ethnic groups.

  20. Early diagnostic markers of sepsis after oesophagectomy (including thromboelastography

    Directory of Open Access Journals (Sweden)

    Durila Miroslav

    2012-06-01

    Full Text Available Abstract Background Early diagnosis of sepsis and its differentiation from the noninfective SIRS is very important in order that treatment can be initiated in a timely and appropriate way. In this study we investigated standard haematological and biochemical parameters and thromboelastography (TEG in patients who had undergone surgical resection of the oesophagus to find out if changes in any of these parameters could help in early differentiation between SIRS and sepsis development. Methods We enrolled 43 patients (aged 41–74 years of whom 38 were evaluable. Blood samples were obtained on the morning of surgery and then at 24-hour intervals for the next 6 days. Samples were analysed for procalcitonin (PCT, C-reactive protein (CRP, interleukin-6 (IL- 6, aspartate transaminase (AST, alanine transaminase (ALT , lactate, white blood count (WBC, D-dimers, antithrombin (AT, international normalised ratio (INR, activated partial thromboplastin time (APTT and parameters of TEG. Results Significant differences between patients who developed sepsis during this period (9 patients and SIRS were found in ALT on Day 1, in AST on Days 1–4, in PCT on Days 2–6; in CRP on Days 3–6; in IL-6 on Days 2–5; in leucocytes on Days 2, 3 and 6; and in D-dimers on Days 2 and 4. Significance values ranged from p  Conclusions Sequential measurements of ALT, AST, PCT and IL-6 during the early postoperative period can be used for early differentiation of sepsis and postoperative SIRS after oesophagectomy. Among the coagulation parameters measured, only D-dimer concentrations appeared to be helpful in this process. TEG does not seem to be a useful early predictor of sepsis development; however it can be used to differentiate sepsis and SIRS from Day 5 after surgery.

  1. Transient neuropsychological abnormalities (including Gerstmann's syndrome) during cortical stimulation.

    Science.gov (United States)

    Morris, H H; Lüders, H; Lesser, R P; Dinner, D S; Hahn, J

    1984-07-01

    A patient with intractable partial seizures was intensively studied before surgical removal of the epileptogenic focus. A subdural electrode array was surgically placed over the left temporoparietal cortex to better localize the epileptogenic focus and localize cortical function. In addition to speech and sensory findings, acalculia, agraphia, right-left confusion, and finger agnosia were transiently produced by electrical stimulation in the perisylvian area. These findings and their relationship to the controversy surrounding Gerstmann's syndrome are discussed.

  2. Genotypic and phenotypic nevirapine resistance correlates with virological failure during salvage therapy including abacavir and nevirapine

    DEFF Research Database (Denmark)

    Jørgensen, L B; Katzenstein, T L; Gerstoft, J;

    2000-01-01

    OBJECTIVE: To study the development of resistance during 8 weeks of salvage therapy with abacavir and nevirapine in combination with other reverse transcriptase inhibitors (RTIs) and protease inhibitors (PIs). METHODS: Samples obtained at baseline and after 8 weeks of therapy from 16 heavily...... and after 2, 4 and 8 weeks of therapy. RESULTS: The majority of patients was genotypically and phenotypically resistant to lamivudine, abacavir, zidovudine and PIs, whereas 50% of the patients showed resistance to nevirapine at baseline in at least one of the methods used. After 8 weeks of salvage therapy...... higher transient reduction in viral load was observed in patients with nevirapine-sensitive HIV at baseline compared to patients with resistant HIV at baseline. CONCLUSION: The transient effect of salvage therapy including abacavir and nevirapine was due to the effect of nevirapine. The lack of effect...

  3. Multimodality therapy including radiotherapy and chemotherapy improves event-free survival in stage C esthesioneuroblastoma

    Energy Technology Data Exchange (ETDEWEB)

    Eich, H.T.; Staar, S.; Mueller, R.P. [Dept. of Radiotherapy, Univ. of Cologne (Germany); Hero, B.; Berthold, F. [Dept. of Pediatric Oncology, Children' s Hospital, Univ. of Cologne (Germany); Micke, O. [Dept. of Radiotherapy, Univ. of Muenster (Germany); Seegenschmiedt, H. [Dept. of Radiotherapy, Alfried Krupp Hospital, Essen (Germany); Mattke, A. [Children' s Hospital, Olgaspital, Stuttgart (Germany)

    2003-04-01

    Background: To evaluate the efficacy of multimodality therapy in patients with esthesioneuroblastoma (ENB). Patients and Methods: From 01/1979 through 08/2001, 47 patients with ENB (20 men, 27 women, age 5-81 years), were registered from 18 oncologic centers. There were 14 tumors stage B and 33 stage C according to the Kadish classification. Initial treatment included surgery alone in seven patients, radiotherapy (RT) with or without chemotherapy (CTX) in twelve, surgery plus postoperative RT in 15, and multimodality therapy (surgery plus pre- or postoperative CTX plus postoperative RT) in 13. Results: The 5-year overall survival (OS) for the whole group was 64 {+-} 8% and the 5-year event-free survival (EFS) 50 {+-} 8%. Patients with multimodality treatment had a significantly better 5-year EFS (74 {+-} 13%) compared to the other patients (41 {+-} 9%; p = 0.05), while the 5-year OS was not significantly different between the treatment groups (p = 0.39). For patients with Kadish stage C, multimodality therapy (n = 11) resulted in superior 5-year EFS (72 {+-} 14% vs 17 {+-} 9%; p = 0.01). These patients tended to have an improved OS (69 {+-} 15% vs 47 {+-} 12%; p = 0.19) compared to the other treatment groups. None of the patients with multimodality treatment had a metastatic relapse. Conclusion: Multimodality treatment (surgery plus pre- or postoperative CTX plus postoperative RT) appears to be highly efficient in preventing local and systemic relapse in patients with advanced ENB. Timing and optimal agents of CTX need to be further evaluated. (orig.)

  4. Nomogram including pretherapeutic parameters for prediction of survival after SIRT of hepatic metastases from colorectal cancer

    Energy Technology Data Exchange (ETDEWEB)

    Fendler, Wolfgang Peter [Ludwig-Maximilians-University of Munich, Department of Nuclear Medicine, Munich (Germany); Klinik und Poliklinik fuer Nuklearmedizin, Munich (Germany); Ilhan, Harun [Ludwig-Maximilians-University of Munich, Department of Nuclear Medicine, Munich (Germany); Paprottka, Philipp M. [Ludwig-Maximilians-University of Munich, Department of Clinical Radiology, Munich (Germany); Jakobs, Tobias F. [Hospital Barmherzige Brueder, Department of Diagnostic and Interventional Radiology, Munich (Germany); Heinemann, Volker [Ludwig-Maximilians-University of Munich, Department of Internal Medicine III, Munich (Germany); Ludwig-Maximilians-University of Munich, Comprehensive Cancer Center, Munich (Germany); Bartenstein, Peter; Haug, Alexander R. [Ludwig-Maximilians-University of Munich, Department of Nuclear Medicine, Munich (Germany); Ludwig-Maximilians-University of Munich, Comprehensive Cancer Center, Munich (Germany); Khalaf, Feras [University Hospital Bonn, Department of Nuclear Medicine, Bonn (Germany); Ezziddin, Samer [Saarland University Medical Center, Department of Nuclear Medicine, Homburg (Germany); Hacker, Marcus [Vienna General Hospital, Department of Nuclear Medicine, Vienna (Austria)

    2015-09-15

    Pre-therapeutic prediction of outcome is important for clinicians and patients in determining whether selective internal radiation therapy (SIRT) is indicated for hepatic metastases of colorectal cancer (CRC). Pre-therapeutic characteristics of 100 patients with colorectal liver metastases (CRLM) treated by radioembolization were analyzed to develop a nomogram for predicting survival. Prognostic factors were selected by univariate Cox regression analysis and subsequent tested by multivariate analysis for predicting patient survival. The nomogram was validated with reference to an external patient cohort (n = 25) from the Bonn University Department of Nuclear Medicine. Of the 13 parameters tested, four were independently associated with reduced patient survival in multivariate analysis. These parameters included no liver surgery before SIRT (HR:1.81, p = 0.014), CEA serum level ≥ 150 ng/ml (HR:2.08, p = 0.001), transaminase toxicity level ≥2.5 x upper limit of normal (HR:2.82, p = 0.001), and summed computed tomography (CT) size of the largest two liver lesions ≥10 cm (HR:2.31, p < 0.001). The area under the receiver-operating characteristic curve for our prediction model was 0.83 for the external patient cohort, indicating superior performance of our multivariate model compared to a model ignoring covariates. The nomogram developed in our study entailing four pre-therapeutic parameters gives good prediction of patient survival post SIRT. (orig.)

  5. A sonic boom propagation model including mean flow atmospheric effects

    Science.gov (United States)

    Salamone, Joe; Sparrow, Victor W.

    2012-09-01

    This paper presents a time domain formulation of nonlinear lossy propagation in onedimension that also includes the effects of non-collinear mean flow in the acoustic medium. The model equation utilized is an augmented Burgers equation that includes the effects of nonlinearity, geometric spreading, atmospheric stratification, and also absorption and dispersion due to thermoviscous and molecular relaxation effects. All elements of the propagation are implemented in the time domain and the effects of non-collinear mean flow are accounted for in each term of the model equation. Previous authors have presented methods limited to showing the effects of wind on ray tracing and/or using an effective speed of sound in their model equation. The present work includes the effects of mean flow for all terms included in the augmented Burgers equation with all of the calculations performed in the time-domain. The capability to include the effects of mean flow in the acoustic medium allows one to make predictions more representative of real-world atmospheric conditions. Examples are presented for nonlinear propagation of N-waves and shaped sonic booms. [Work supported by Gulfstream Aerospace Corporation.

  6. Ceramic substrate including thin film multilayer surface conductor

    Science.gov (United States)

    Wolf, Joseph Ambrose; Peterson, Kenneth A.

    2017-05-09

    A ceramic substrate comprises a plurality of ceramic sheets, a plurality of inner conductive layers, a plurality of vias, and an upper conductive layer. The ceramic sheets are stacked one on top of another and include a top ceramic sheet. The inner conductive layers include electrically conductive material that forms electrically conductive features on an upper surface of each ceramic sheet excluding the top ceramic sheet. The vias are formed in each of the ceramic sheets with each via being filled with electrically conductive material. The upper conductive layer includes electrically conductive material that forms electrically conductive features on an upper surface of the top ceramic sheet. The upper conductive layer is constructed from a stack of four sublayers. A first sublayer is formed from titanium. A second sublayer is formed from copper. A third sublayer is formed from platinum. A fourth sublayer is formed from gold.

  7. Classical mechanics including an introduction to the theory of elasticity

    CERN Document Server

    Hentschke, Reinhard

    2017-01-01

    This textbook teaches classical mechanics as one of the foundations of physics. It describes the mechanical stability and motion in physical systems ranging from the molecular to the galactic scale. Aside from the standard topics of mechanics in the physics curriculum, this book includes an introduction to the theory of elasticity and its use in selected modern engineering applications, e.g. dynamic mechanical analysis of viscoelastic materials. The text also covers many aspects of numerical mechanics, ranging from the solution of ordinary differential equations, including molecular dynamics simulation of many particle systems, to the finite element method. Attendant Mathematica programs or parts thereof are provided in conjunction with selected examples. Numerous links allow the reader to connect to related subjects and research topics. Among others this includes statistical mechanics (separate chapter), quantum mechanics, space flight, galactic dynamics, friction, and vibration spectroscopy. An introductory...

  8. Internet addiction neuroscientific approaches and therapeutical implications including smartphone addiction

    CERN Document Server

    Reuter, Martin

    2017-01-01

    The second edition of this successful book provides further and in-depth insight into theoretical models dealing with Internet addiction, as well as includes new therapeutical approaches. The editors also broach the emerging topic of smartphone addiction. This book combines a scholarly introduction with state-of-the-art research in the characterization of Internet addiction. It is intended for a broad audience including scientists, students and practitioners. The first part of the book contains an introduction to Internet addiction and their pathogenesis. The second part of the book is dedicated to an in-depth review of neuroscientific findings which cover studies using a variety of biological techniques including brain imaging and molecular genetics. The third part of the book focuses on therapeutic interventions for Internet addiction. The fourth part of the present book is an extension to the first edition and deals with a new emerging potential disorder related to Internet addiction – smartphone addicti...

  9. Including information technology project management in the nursing informatics curriculum.

    Science.gov (United States)

    Sockolow, Paulina; Bowles, Kathryn H

    2008-01-01

    Project management is a critical skill for nurse informaticists who are in prominent roles developing and implementing clinical information systems. It should be included in the nursing informatics curriculum, as evidenced by its inclusion in informatics competencies and surveys of important skills for informaticists. The University of Pennsylvania School of Nursing includes project management in two of the four courses in the master's level informatics minor. Course content includes the phases of the project management process; the iterative unified process methodology; and related systems analysis and project management skills. During the introductory course, students learn about the project plan, requirements development, project feasibility, and executive summary documents. In the capstone course, students apply the system development life cycle and project management skills during precepted informatics projects. During this in situ experience, students learn, the preceptors benefit, and the institution better prepares its students for the real world.

  10. Pediatric deformity treatment update, including 3D correction concepts%Pediatric deformity treatment update,including 3D correction concepts

    Institute of Scientific and Technical Information of China (English)

    Randal R. Betz; Patrick J. Cahill; Joshua M. Pahys; Amer F. Samdani

    2011-01-01

    The purpose of this article is to highlight some of the new developments in the treatment of adolescent idiopathic scoliosis,including 3D correction of deformity,posterior and minimally invasive surgery,and fusionless strategies.

  11. Solar Energy Education. Renewable energy: a background text. [Includes glossary

    Energy Technology Data Exchange (ETDEWEB)

    1985-01-01

    Some of the most common forms of renewable energy are presented in this textbook for students. The topics include solar energy, wind power hydroelectric power, biomass ocean thermal energy, and tidal and geothermal energy. The main emphasis of the text is on the sun and the solar energy that it yields. Discussions on the sun's composition and the relationship between the earth, sun and atmosphere are provided. Insolation, active and passive solar systems, and solar collectors are the subtopics included under solar energy. (BCS)

  12. Seismic Response of Wind Turbines: Time Domain Simulations Including SSI

    OpenAIRE

    Amdal, Åse Marit Wist

    2014-01-01

    In this study, a numerical model of a 5MW offshore wind turbine on a monopile foundation was created in order to calculate the dynamic response of the structure including soil-structure interaction. The main focus was to develop a reliable numerical model of the coupled system - including the tower, monopile foundation and the surrounding soil. The wind turbine was subjected to earthquake load in the time-domain. The global response of the wind turbine was compared for the two prevalent meth...

  13. Methods of producing adsorption media including a metal oxide

    Science.gov (United States)

    Mann, Nicholas R; Tranter, Troy J

    2014-03-04

    Methods of producing a metal oxide are disclosed. The method comprises dissolving a metal salt in a reaction solvent to form a metal salt/reaction solvent solution. The metal salt is converted to a metal oxide and a caustic solution is added to the metal oxide/reaction solvent solution to adjust the pH of the metal oxide/reaction solvent solution to less than approximately 7.0. The metal oxide is precipitated and recovered. A method of producing adsorption media including the metal oxide is also disclosed, as is a precursor of an active component including particles of a metal oxide.

  14. Tunable cavity resonator including a plurality of MEMS beams

    Energy Technology Data Exchange (ETDEWEB)

    Peroulis, Dimitrios; Fruehling, Adam; Small, Joshua Azariah; Liu, Xiaoguang; Irshad, Wasim; Arif, Muhammad Shoaib

    2015-10-20

    A tunable cavity resonator includes a substrate, a cap structure, and a tuning assembly. The cap structure extends from the substrate, and at least one of the substrate and the cap structure defines a resonator cavity. The tuning assembly is positioned at least partially within the resonator cavity. The tuning assembly includes a plurality of fixed-fixed MEMS beams configured for controllable movement relative to the substrate between an activated position and a deactivated position in order to tune a resonant frequency of the tunable cavity resonator.

  15. Six-dimensional beam-beam kick including coupled motion

    Directory of Open Access Journals (Sweden)

    L. H. A. Leunissen

    2000-12-01

    Full Text Available The six-dimensional beam-beam interaction as developed in 1992 by Hirata, Moshammer, and Ruggiero has been extended to include linear coupled motion and an arbitrary crossing plane. The technique of symplectic mapping in the six-dimensional phase space, called synchrobeam mapping, is applied to investigate the beam-beam kick within a solenoid. A linear beam-beam model including coupling is discussed in detail, also in the framework of a six-dimensional symplectic dispersion formalism.

  16. The Future of Constitutionally Required Lesser Included Offenses

    Directory of Open Access Journals (Sweden)

    Michael H. Hoffheimer

    2006-04-01

    Full Text Available For over a generation courts have recognized that failing to instruct juries on lesser included offenses results in wrongful convictions. In Beck v. Alabama, the Supreme Court held that in capital cases juries must be instructed on the option of returning convictions of non-capital lesser included offenses. The Court explained that this right prevents juries from being forced to make all-or-nothing choices between guilt and innocence in cases where serious crimes have been committed and pressures to convict of some crime are great.

  17. Molecular profiling, including TERT promoter mutations, of acral lentiginous melanomas.

    Science.gov (United States)

    Vazquez, Vinicius de Lima; Vicente, Anna L; Carloni, Adriana; Berardinelli, Gustavo; Soares, Paula; Scapulatempo, Cristovam; Martinho, Olga; Reis, Rui M

    2016-04-01

    Acral lentiginous melanoma (ALM) is the less common subtype with singular characterization. TERT (human telomerase reverse transcriptase) promoter mutations have being described as recurrent in melanomas and infrequent in ALM, but their real incidence and clinical relevance is unclear. The objectives of this study were to describe the prevalence of TERT promoter mutations in ALM, and correlate with the molecular profile of other drive genes and clinical features. Sixty-one samples from 48 patients with ALM were analyzed. After DNA isolation, the mutation profiles of the hotspot region of BRAF, NRAS, KIT, PDGFRA, and TERT genes were determined by PCR amplification followed by direct Sanger sequencing. KIT, PDGFRA, and VEGFR2 gene amplification was performed by quantitative PCR. Clinical information such as survival, clinical stage, and Breslow tumor classification were obtained from medical records. TERT promoter mutations were found in 9.3% of the cases, BRAF in 10.3%, NRAS in 7.5%, KIT in 20.7%, and PDGFRA in 14.8% of ALM. None of the cases showed KIT, PDGFRA, or VEGFR2 gene amplification. We found an association between KIT mutations and advanced Clark level (IV and V, P=0.043) and TERT promoter mutations with low mitotic index. No other significant associations were observed between mutation profile and patients' clinical features nor survival rates. Oncogenic TERT promoter mutations are present in a fraction of ALMs. No relevant associations were found between TERT mutation status and clinical/molecular features nor survival. Mutations of KIT and PDGFRA are the most common genetic alterations, and they can be therapeutic targets for these patients.

  18. When users cannot be included in inclusive design

    DEFF Research Database (Denmark)

    Herriott, Richard

    2012-01-01

    elides the differences in methods that are available and appropriate to designers in the respective fields. The demands required by strategies such as co-creation, focus groups, cultural probes and even simple interviewing can be above the capacities of the users of AT. Yet the impairments of ill...... and disabled users make the need for useability and pleasurability even more important since alternative products are comparatively few. This paper examines the workarounds two teams of designers have used to reduce the demands placed on emphysema patients and elderly users during inclusive design processes...

  19. Patient safety

    African Journals Online (AJOL)

    406 CME Nov/Dec 2012 Vol. 30 No. 11 ... The message remains the same: around 10% of all patients ... error rates in healthcare in South Africa, no real data exist. ... so as technology progresses. The medical .... top priority and they will include it in planning and .... Reason J. Managing the risks of organisational accidents.

  20. Should Listening and Speaking be included in a Language Test?

    Institute of Scientific and Technical Information of China (English)

    李宗文

    2013-01-01

      Language test is widely used in our daily life for various purposes, while a lot of language tests fail to include listening or speaking for one reason or another. The question that whether this type of test is still valid enough to serve test purposes and have a positive washback for English learning has come up.

  1. Synaptic channel model including effects of spike width variation

    OpenAIRE

    2015-01-01

    Synaptic Channel Model Including Effects of Spike Width Variation Hamideh Ramezani Next-generation and Wireless Communications Laboratory (NWCL) Department of Electrical and Electronics Engineering Koc University, Istanbul, Turkey Ozgur B. Akan Next-generation and Wireless Communications Laboratory (NWCL) Department of Electrical and Electronics Engineering Koc University, Istanbul, Turkey ABSTRACT An accu...

  2. Truck Drivers And Risk Of STDs Including HIV

    Directory of Open Access Journals (Sweden)

    Bansal R.K

    1995-01-01

    Full Text Available Research Question: Whether long distance truck drivers are at a higher risk of contracting and transmitting STDs including HIV? Objectives: i To study the degree of knowledge of HIV and AIDS among long- distance truck drivers. ii Assess their sexual behaviour including condom use. iii Explore their prevailing social influences and substance abuse patterns. iv Explore their treatment seeking bahaviour as regards STDs. v Deduce their risk of contracting and transmitting STDs including HIV. Study Design: Cross- sectional interview. Setting: Transport Nagar, Indore (M.P Participants: 210 senior drivers (First drivers and 210 junior drivers (Second drivers. Study Variables: Extra-Marital sexual intercourse, condom usage, past and present history of STDs, treatment and counseling, substance abuse, social â€" cultural milieu. Outcome Variables: Risk of contraction of STDs. Statistical Analysis: Univariate analysis. Results: 94% of the drivers were totally ignorant about AIDS. 82.9% and 43.8 % of the senior and junior drivers had a history of extra- marital sex and of these only 2 regularly used condoms. 13.8% and 3.3 % of the senior and junior drivers had a past or present history suggestive of STD infection. Alcohol and Opium were regularly used by them. Conclusion: The studied drivers are at a high risk of contracting and transmitting STDs including HIV.

  3. A Reactive Behavior Agent: Including Emotions into a Video Game

    Directory of Open Access Journals (Sweden)

    A. L. Laureano-Cruces

    2012-10-01

    Full Text Available Why we have emotions and how they influence human behavior are two questions we constantly ask ourselves.According to researchers in the field, there are two kinds of information that the person receives to make a decision.This information is integrated to generate a whole. One comes from ourselves it is proprioceptive and refers toemotions; the other one is external, it comes from the environment. Thus, emotions are immersed in different areas ofa person’s life, including social, functional, and cognitive aspects. It has an important role in the decision-makingprocess. It is on this last point that this paper focuses its approach, which consists of including a cognitive structure ofemotions in a reactive behavior in order to enrich behavior, including the information generated through internalevaluation of the external physical stimuli. Our work is based on the OCC theory (named after the name of its authors:Ortony, Collins and Clore. This theory proposes that a decision-making process is affected through differentperspectives: a goals and events, b agents and their actions, and c objects and their capacity for attraction. Thecase study is situated within a scenario that represents an approach that seeks to include a module of emotions withinthe design of the architecture of a videogame.

  4. The Subjectivities of "Included" Students with Disabilities in Schools

    Science.gov (United States)

    Whitburn, Ben

    2017-01-01

    The contextual precept of this paper is to re-theorise inclusive education beyond technical rational solutions to the "problem" of disability. Drawing on Foucauldian and critical disability theories, I make the case for the analysis of inclusive schooling through the lens of students' "included" subjectivities--notwithstanding…

  5. Restructuring the Public School Curriculum To Include Parenting Education Classes.

    Science.gov (United States)

    Tyree, Carolyn L.; And Others

    Although the current educational climate stresses a back-to-basics approach, there is nonetheless overwhelming evidence of a need for an appropriately structured parenting education program in the public school curriculum. Reasons for this need include the large number of teenage pregnancies and abortions. These lead teens to miss high school…

  6. Understanding heat transfer in 2D channel flows including recirculation

    NARCIS (Netherlands)

    Dirkse, M.H.; Loon, van W.K.P.; Stigter, J.D.; Bot, G.P.A.

    2007-01-01

    Inviscid, irrotational two-dimensional flows can be modelled using the Schwarz¿Christoffel integral. Although bounded flows including boundary layer separation and recirculation are not irrotational, a model is presented that uses the Schwarz¿Christoffel integral to model these flows. The model sepa

  7. Interviewing Objects: Including Educational Technologies as Qualitative Research Participants

    Science.gov (United States)

    Adams, Catherine A.; Thompson, Terrie Lynn

    2011-01-01

    This article argues the importance of including significant technologies-in-use as key qualitative research participants when studying today's digitally enhanced learning environments. We gather a set of eight heuristics to assist qualitative researchers in "interviewing" technologies-in-use (or other relevant objects), drawing on concrete…

  8. Mixture including hydrogen and hydrocarbon having pressure-temperature stability

    Science.gov (United States)

    Mao, Wendy L. (Inventor); Mao, Ho-Kwang (Inventor)

    2009-01-01

    The invention relates to a method of storing hydrogen that employs a mixture of hydrogen and a hydrocarbon that can both be used as fuel. In one embodiment, the method involves maintaining a mixture including hydrogen and a hydrocarbon in the solid state at ambient pressure and a temperature in excess of about 10 K.

  9. Unsteady panel method for complex configurations including wake modeling

    CSIR Research Space (South Africa)

    Van Zyl, Lourens H

    2008-01-01

    Full Text Available implementations of the DLM are however not very versatile in terms of geometries that can be modeled. The ZONA6 code offers a versatile surface panel body model including a separated wake model, but uses a pressure panel method for lifting surfaces. This paper...

  10. Visual Impairments, "Including Blindness." NICHCY Disability Fact Sheet #13

    Science.gov (United States)

    National Dissemination Center for Children with Disabilities, 2012

    2012-01-01

    Vision is one of the five senses. Being able to see gives tremendous access to learning about the world around--people's faces and the subtleties of expression, what different things look like and how big they are, and the physical environments, including approaching hazards. When a child has a visual impairment, it is cause for immediate…

  11. Interviewing Objects: Including Educational Technologies as Qualitative Research Participants

    Science.gov (United States)

    Adams, Catherine A.; Thompson, Terrie Lynn

    2011-01-01

    This article argues the importance of including significant technologies-in-use as key qualitative research participants when studying today's digitally enhanced learning environments. We gather a set of eight heuristics to assist qualitative researchers in "interviewing" technologies-in-use (or other relevant objects), drawing on concrete…

  12. Modeling Electric Double-Layers Including Chemical Reaction Effects

    DEFF Research Database (Denmark)

    Paz-Garcia, Juan Manuel; Johannesson, Björn; Ottosen, Lisbeth M.

    2014-01-01

    A physicochemical and numerical model for the transient formation of an electric double-layer between an electrolyte and a chemically-active flat surface is presented, based on a finite elements integration of the nonlinear Nernst-Planck-Poisson model including chemical reactions. The model works...

  13. 10 CFR 905.11 - What must an IRP include?

    Science.gov (United States)

    2010-01-01

    ... data (such as service area, geographical characteristics, customer mix, historical loads, projected... consumer. (iii) Considerations that may be used to develop potential options include cost, market potential... customer must make the load forecasting data available to Western upon request. (6) Measurement...

  14. Assessing the Doctoral Thesis When It Includes Published Work

    Science.gov (United States)

    Sharmini, Sharon; Spronken-Smith, Rachel; Golding, Clinton; Harland, Tony

    2015-01-01

    In this article we explore how examiners assess a thesis that includes published work. An online survey was used to gather data on approaches to assessing publication-based theses (PBTs). The respondents were 62 supervisors who had experience examining PBTs across a range of disciplines at a research-intensive university in New Zealand. Nearly…

  15. 20 CFR 220.114 - Evaluation of symptoms, including pain.

    Science.gov (United States)

    2010-04-01

    ... a determination as to the intensity, persistence, or functionally limiting effects of the claimant's... 20 Employees' Benefits 1 2010-04-01 2010-04-01 false Evaluation of symptoms, including pain. 220.114 Section 220.114 Employees' Benefits RAILROAD RETIREMENT BOARD REGULATIONS UNDER THE...

  16. 34 CFR 429.20 - What must an application include?

    Science.gov (United States)

    2010-07-01

    ... 34 Education 3 2010-07-01 2010-07-01 false What must an application include? 429.20 Section 429.20 Education Regulations of the Offices of the Department of Education (Continued) OFFICE OF VOCATIONAL AND ADULT EDUCATION, DEPARTMENT OF EDUCATION BILINGUAL VOCATIONAL MATERIALS, METHODS, AND TECHNIQUES...

  17. 14 CFR 25.1181 - Designated fire zones; regions included.

    Science.gov (United States)

    2010-01-01

    ... 14 Aeronautics and Space 1 2010-01-01 2010-01-01 false Designated fire zones; regions included. 25.1181 Section 25.1181 Aeronautics and Space FEDERAL AVIATION ADMINISTRATION, DEPARTMENT OF... accessory section; (4) Any auxiliary power unit compartment; (5) Any fuel-burning heater and other...

  18. 14 CFR 29.1181 - Designated fire zones: regions included.

    Science.gov (United States)

    2010-01-01

    ... 14 Aeronautics and Space 1 2010-01-01 2010-01-01 false Designated fire zones: regions included. 29.1181 Section 29.1181 Aeronautics and Space FEDERAL AVIATION ADMINISTRATION, DEPARTMENT OF...; (5) Any fuel-burning heater and other combustion equipment installation described in § 29.859; (6...

  19. 14 CFR 23.1181 - Designated fire zones; regions included.

    Science.gov (United States)

    2010-01-01

    ... 14 Aeronautics and Space 1 2010-01-01 2010-01-01 false Designated fire zones; regions included. 23.1181 Section 23.1181 Aeronautics and Space FEDERAL AVIATION ADMINISTRATION, DEPARTMENT OF..., turbine, and tailpipe sections. (c) Any auxiliary power unit compartment; and (d) Any fuel-burning heater...

  20. The International Project 1992 Update Including "Microfilming Projects Abroad."

    Science.gov (United States)

    Rutimann, Hans

    1993-01-01

    Describes microfilming projects in 30 countries collected from questionnaire responses. Additional topics discussed include cooperative programs for preservation and access; an overview of national programs; mass deacidification; new technologies, such as digital preservation; microfilming projects abroad; and future priorities. (Contains 10…

  1. Thick Plate Homogenization of Sandwich Panels Including Folded Cellular Cores

    OpenAIRE

    LEBEE, Arthur; Sab, Karam

    2011-01-01

    In the present work, we provide the Bending-Gradient homogenization scheme and apply it to a sandwich panel including the chevron pattern. It turns out that the shear forces stiffness of the sandwich panel is strongly influenced by a skin distortion phenomenon which cannot be neglected in conventional design.

  2. The Instructional Improvement Questionnaire [Including Supporting and Technical Data].

    Science.gov (United States)

    Pohlmann, John T.; Elmore, Patricia B.

    The Instructional Improvement Questionnaire (IIQ) is a student rating form designed to provide evaluative feedback to instructors about their teaching. The IIQ was first developed at Southern Illinois University at Carbondale in 1969 and revised in 1972. The documents included here describe the development of the IIQ and research associated with…

  3. 30 CFR 250.211 - What must the EP include?

    Science.gov (United States)

    2010-07-01

    ... 30 Mineral Resources 2 2010-07-01 2010-07-01 false What must the EP include? 250.211 Section 250.211 Mineral Resources MINERALS MANAGEMENT SERVICE, DEPARTMENT OF THE INTERIOR OFFSHORE OIL AND GAS AND... exploration drilling, well test flaring, installing a well protection structure, and temporary...

  4. Smart Antenna Skins, including Conformal Array, MMICs and Applications

    NARCIS (Netherlands)

    Bogaart, F.L.M. van den

    2000-01-01

    Low-cost technologies are presented for future space-borne and airborne SAR systems. These technologies include state-of-the art highly integrated circuits to miniaturise front-end, solutions to lower-cost interconnection technologies, new beamforming aspects and new architectures. The MMICs address

  5. Including History in the Study of Psychological and Political Power

    Science.gov (United States)

    Reich, Stephanie M.; Pinkard, Tracy; Davidson, Heather

    2008-01-01

    Isaac Prilleltensky's (2003) concept of psychopolitical validity stresses the need to consider both the political and the psychological nature of power in the study of wellness, oppression, and liberation. The authors advocate that psychopolitical validity would be strengthened if it included an explicit appreciation of historical context. The…

  6. Smart Antenna Skins, including Conformal Array, MMICs and Applications

    NARCIS (Netherlands)

    Bogaart, F.L.M. van den

    2000-01-01

    Low-cost technologies are presented for future space-borne and airborne SAR systems. These technologies include state-of-the art highly integrated circuits to miniaturise front-end, solutions to lower-cost interconnection technologies, new beamforming aspects and new architectures. The MMICs address

  7. Including History in the Study of Psychological and Political Power

    Science.gov (United States)

    Reich, Stephanie M.; Pinkard, Tracy; Davidson, Heather

    2008-01-01

    Isaac Prilleltensky's (2003) concept of psychopolitical validity stresses the need to consider both the political and the psychological nature of power in the study of wellness, oppression, and liberation. The authors advocate that psychopolitical validity would be strengthened if it included an explicit appreciation of historical context. The…

  8. /facet: A Generic Facet Browser Including Temporal and Spatial Visualization

    NARCIS (Netherlands)

    Hildebrand, M.

    2007-01-01

    A generic facet browser including temporal and spatial visualization. The existing MultimediaN Eculture demo is updated in two ways: improved visualization of the semantic timeline and added a natural language sentence generator for cluster headers. Relation search interface is also implemente

  9. 31 CFR 306.87 - Partnerships (including nominee partnerships).

    Science.gov (United States)

    2010-07-01

    ... 31 Money and Finance: Treasury 2 2010-07-01 2010-07-01 false Partnerships (including nominee partnerships). 306.87 Section 306.87 Money and Finance: Treasury Regulations Relating to Money and Finance (Continued) FISCAL SERVICE, DEPARTMENT OF THE TREASURY BUREAU OF THE PUBLIC DEBT GENERAL...

  10. Computer aided design of reentrant coaxial filters including coaxial excitation

    NARCIS (Netherlands)

    Boria, V.; Gerini, G.; Guglielmi, M.

    1999-01-01

    An advanced EM based CAD tool is used for the detailed characterisation of a family of reentrant coaxial waveguide filters. The EM analysis includes the effects of tuning screws and of the input/output coaxial excitation. The software is essentially used as an efficient replacement for the tradition

  11. Methodological challenges when doing research that includes ethnic minorities

    DEFF Research Database (Denmark)

    Morville, Anne-Le; Erlandsson, Lena-Karin

    2016-01-01

    minorities are included. Method: A thorough literature search yielded 21 articles obtained from the scientific databases PubMed, Cinahl, Web of Science and PsychInfo. Analysis followed Arksey and O’Malley’s framework for scoping reviews, applying content analysis. Results: The results showed methodological...

  12. Including expectant fathers in antenatal education programmes in Istanbul, Turkey.

    Science.gov (United States)

    Turan, J M; Nalbant, H; Bulut, A; Sahip, Y

    2001-11-01

    In this article we present the results of three studies investigating methods for including men in antenatal education in Istanbul, Turkey. Participants were first-time expectant parents living in low and middle-income areas. After a formative study on the roles of various family members in health during the period surrounding a first birth, an antenatal-clinic-based education programme for women and for couples was carried out as a randomised, controlled study. Based on the results, separate community-based antenatal education programmes for expectant mothers and expectant fathers were tested. There was demand among many pregnant women and some of their husbands for including expectant fathers in antenatal education. In the short term, these programmes seemed to have positive effects on women and men's reproductive health knowledge, attitudes and behaviours. In the clinic-based programme the positive effects of including men were mainly in the area of post-partum family planning, while in the community-based programme positive effects among men were also seen in the areas of infant health, infant feeding and spousal communication and support. Free antenatal education should be made available to all expectant mothers and when possible, men should be included, either together with their wives or in a culture such as that of Turkey, in separate groups.

  13. Including CAD/CAM dentistry in a dental school curriculum.

    Science.gov (United States)

    Browning, William D; Reifeis, Paul; Willis, Lisa; Kirkup, Michele L

    2013-01-01

    Shaping a clinical curriculum that is appropriate for novice dentists, is based on high-quality evidence of efficacy, yet reflects current practices is challenging. CAD/CAM units have been available to dentists since the late '80s. Recent improvements in the software, hardware and the clinical performance of available all-ceramic blocks have keyed a surge in interest. Based on a careful review of the systems available and, equally importantly, a review of the research regarding the longevity of reinforced glass ceramics, IUSD decided to add training on the use of the E4D CAD/CAM system to the curriculum. Students now receive lectures, preclinical hands-on training and clinical experience in fabricating all-ceramic restorations. At present any student who is interested in providing an all-ceramic restoration for his/her patient can do so using our CAD/CAM system. In a little less than one year our undergraduate dental students have provided 125 all-ceramic crowns to their patients. Clinical faculty have been impressed with the marginal fit and esthetics of the crowns. Finally, with students designing, milling, sintering and staining the restorations the CAD/CAM systems has reduced lab costs significantly.

  14. Should desperate volunteers be included in randomised controlled trials?

    Science.gov (United States)

    Allmark, P; Mason, S

    2006-09-01

    Randomised controlled trials (RCTs) sometimes recruit participants who are desperate to receive the experimental treatment. This paper defends the practice against three arguments that suggest it is unethical first, desperate volunteers are not in equipoise. Second clinicians, entering patients onto trials are disavowing their therapeutic obligation to deliver the best treatment; they are following trial protocols rather than delivering individualised care. Research is not treatment; its ethical justification is different. Consent is crucial. Third, desperate volunteers do not give proper consent: effectively, they are coerced. This paper responds by advocating a notion of equipoise based on expert knowledge and widely shared values. Where such collective, expert equipoise exists there is a prima facie case for an RCT. Next the paper argues that trial entry does not involve clinicians disavowing their therapeutic obligation; individualised care based on insufficient evidence is not in patients best interest. Finally, it argues that where equipoise exists it is acceptable to limit access to experimental agents; desperate volunteers are not coerced because their desperation does not translate into a right to receive what they desire.

  15. Assessment of diagnostic skills in specialist examinations should include lessons learnt from misdiagnosis.

    Directory of Open Access Journals (Sweden)

    Ehud Zamir

    Full Text Available BACKGROUND: Poor authenticity in high stake clinical exams adversely effects validity. We propose including known misleading diagnostic factors and contextual biases in the assessment of diagnostic skills amongst advanced specialty trainees. We hypothesise that this strategy offers a more realistic and critical assessment of diagnostic skill than strategies in which candidates are presented with directive, bias free information, allowing for assumptions which cannot be made in real life. METHODS: Eleven patient based practice clinical exam stations were presented to nine advanced ophthalmology trainees. Four patients had a history of misdiagnosis or near misdiagnosis of key ophthalmic findings, presumed to result from identifiable biases and misleading information. In those four stations, candidates were presented with authentic, file based information and were asked authentic questions, similar to those with which the patients presented. If the candidates were unsuccessful in identifying key findings, the questions were converted into directive questions about the same key findings (i.e. "examine the patient's eyelids, what is your diagnosis?", and the candidates re-assessed the patient and re-answered. RESULTS: Ninety-eight doctor-patient encounters took place. Of those, 35 encounters were analysed for the purpose of this study. In 63% of those encounters, key findings were missed when the question included authentic biases or misleading background information, but rephrasing the question to a directive exam format led to their correct identification (Fail converted to pass. Key findings were detected despite contextual biases or misleading background information in only 23% of encounters. In 14% the findings were missed with either question phrasing. CONCLUSIONS: Presentation authentic questions provide a more realistic and less forgiving measure of diagnostic skills than directive exam questions. Given the prevalence of diagnostic errors and

  16. Ranking hospitals according to acute myocardial infarction mortality: should transfers be included?

    Science.gov (United States)

    Kosseim, Mylène; Mayo, Nancy E; Scott, Susan; Hanley, James A; Brophy, James; Gagnon, Bruno; Pilote, Louise

    2006-07-01

    The objective of this population-based observational cohort study was to estimate the extent to which the inclusion/exclusion of transferred patients with acute myocardial infarction (AMI) impacts on hospital performance rankings. The authors studied 91,633 adult patients admitted to 116 acute care hospitals in Quebec, Canada, with a primary diagnosis of AMI between 1992 and 1999. Hospital performance ranks, based on 30-day AMI mortality rates, were estimated with hierarchical models and compared using 3 different methods for handling transferred patients (exclude all transfers; include transfers and assign outcome to the referring hospital; include transfers and assign outcome to the receiving hospital). The explanatory variable of interest was the hospital to which the patient's outcome was attributed. Using the 3 methods, 4 hospitals were ranked "best performers" once, and 1 hospital ranked among the best in 2 of the 3 analyses performed. Nine hospitals were ranked "worst performers" at least once (4 of which ranked among the "worst" once only, 2 ranked among the "worst" twice, and 3 were consistently ranked "worst performers" in all analyses). There was significant variation in mortality rates among hospitals, and the difference in the rates between the highest and lowest ranking hospitals exceeded the clinically relevant benchmark of 1%. Performance evaluation studies that compare hospital mortality rates typically exclude transferred patients. However, methods used to deal with AMI patient transfers influenced hospital ranks when comparing 30-day mortality rates. Excluding transfers may lead to an inaccurate depiction of the quality of healthcare services in regionalized healthcare systems that call for the timely interhospital transfer of patients with AMI.

  17. Energy storage device including a redox-enhanced electrolyte

    Energy Technology Data Exchange (ETDEWEB)

    Stucky, Galen; Evanko, Brian; Parker, Nicholas; Vonlanthen, David; Auston, David; Boettcher, Shannon; Chun, Sang-Eun; Ji, Xiulei; Wang, Bao; Wang, Xingfeng; Chandrabose, Raghu Subash

    2017-08-08

    An electrical double layer capacitor (EDLC) energy storage device is provided that includes at least two electrodes and a redox-enhanced electrolyte including two redox couples such that there is a different one of the redox couples for each of the electrodes. When charged, the charge is stored in Faradaic reactions with the at least two redox couples in the electrolyte and in a double-layer capacitance of a porous carbon material that comprises at least one of the electrodes, and a self-discharge of the energy storage device is mitigated by at least one of electrostatic attraction, adsorption, physisorption, and chemisorption of a redox couple onto the porous carbon material.

  18. Maximum-entropy closure of hydrodynamic moment hierarchies including correlations.

    Science.gov (United States)

    Hughes, Keith H; Burghardt, Irene

    2012-06-07

    Generalized hydrodynamic moment hierarchies are derived which explicitly include nonequilibrium two-particle and higher-order correlations. The approach is adapted to strongly correlated media and nonequilibrium processes on short time scales which necessitate an explicit treatment of time-evolving correlations. Closure conditions for the extended moment hierarchies are formulated by a maximum-entropy approach, generalizing related closure procedures for kinetic equations. A self-consistent set of nonperturbative dynamical equations are thus obtained for a chosen set of single-particle and two-particle (and possibly higher-order) moments. Analytical results are derived for generalized Gaussian closures including the dynamic pair distribution function and a two-particle correction to the current density. The maximum-entropy closure conditions are found to involve the Kirkwood superposition approximation.

  19. Tissue-Specific Effects of Bariatric Surgery Including Mitochondrial Function

    Directory of Open Access Journals (Sweden)

    Simon N. Dankel

    2011-01-01

    Full Text Available A better understanding of the molecular links between obesity and disease is potentially of great benefit for society. In this paper we discuss proposed mechanisms whereby bariatric surgery improves metabolic health, including acute effects on glucose metabolism and long-term effects on metabolic tissues (adipose tissue, skeletal muscle, and liver and mitochondrial function. More short-term randomized controlled trials should be performed that include simultaneous measurement of metabolic parameters in different tissues, such as tissue gene expression, protein profile, and lipid content. By directly comparing different surgical procedures using a wider array of metabolic parameters, one may further unravel the mechanisms of aberrant metabolic regulation in obesity and related disorders.

  20. Including investment risk in large-scale power market models

    DEFF Research Database (Denmark)

    Lemming, Jørgen Kjærgaard; Meibom, P.

    2003-01-01

    can be included in large-scale partial equilibrium models of the power market. The analyses are divided into a part about risk measures appropriate for power market investors and a more technical part about the combination of a risk-adjustment model and a partial-equilibrium model. To illustrate......Long-term energy market models can be used to examine investments in production technologies, however, with market liberalisation it is crucial that such models include investment risks and investor behaviour. This paper analyses how the effect of investment risk on production technology selection...... the analyses quantitatively, a framework based on an iterative interaction between the equilibrium model and a separate risk-adjustment module was constructed. To illustrate the features of the proposed modelling approach we examined how uncertainty in demand and variable costs affects the optimal choice...

  1. Progressive IRP Models for Power Resources Including EPP

    Directory of Open Access Journals (Sweden)

    Yiping Zhu

    2017-01-01

    Full Text Available In the view of optimizing regional power supply and demand, the paper makes effective planning scheduling of supply and demand side resources including energy efficiency power plant (EPP, to achieve the target of benefit, cost, and environmental constraints. In order to highlight the characteristics of different supply and demand resources in economic, environmental, and carbon constraints, three planning models with progressive constraints are constructed. Results of three models by the same example show that the best solutions to different models are different. The planning model including EPP has obvious advantages considering pollutant and carbon emission constraints, which confirms the advantages of low cost and emissions of EPP. The construction of progressive IRP models for power resources considering EPP has a certain reference value for guiding the planning and layout of EPP within other power resources and achieving cost and environmental objectives.

  2. XFEL OSCILLATOR SIMULATION INCLUDING ANGLE-DEPENDENT CRYSTAL REFLECTIVITY

    Energy Technology Data Exchange (ETDEWEB)

    Fawley, William; Lindberg, Ryan; Kim, K-J; Shvyd' ko, Yuri

    2010-08-23

    The oscillator package within the GINGER FEL simulation code has now been extended to include angle-dependent reflectivity properties of Bragg crystals. Previously, the package was modified to include frequencydependent reflectivity in order to model x-ray FEL oscillators from start-up from shot noise through to saturation. We present a summary of the algorithms used for modeling the crystal reflectivity and radiation propagation outside the undulator, discussing various numerical issues relevant to the domain of high Fresnel number and efficient Hankel transforms. We give some sample XFEL-O simulation results obtained with the angle-dependent reflectivity model, with particular attention directed to the longitudinal and transverse coherence of the radiation output.

  3. The Physics of Semiconductors An Introduction Including Devices and Nanophysics

    CERN Document Server

    Grundmann, Marius

    2006-01-01

    The Physics of Semiconductors provides material for a comprehensive upper-level-undergrauate and graduate course on the subject, guiding readers to the point where they can choose a special topic and begin supervised research. The textbook provides a balance between essential aspects of solid-state and semiconductor physics, on the one hand, and the principles of various semiconductor devices and their applications in electronic and photonic devices, on the other. It highlights many practical aspects of semiconductors such as alloys, strain, heterostructures, nanostructures, that are necessary in modern semiconductor research but typically omitted in textbooks. For the interested reader some additional advanced topics are included, such as Bragg mirrors, resonators, polarized and magnetic semiconductors are included. Also supplied are explicit formulas for many results, to support better understanding. The Physics of Semiconductors requires little or no prior knowledge of solid-state physics and evolved from ...

  4. Improving the strength of amalgams by including steel fibers

    Energy Technology Data Exchange (ETDEWEB)

    Cochran, Calvin T. [Hendrix College, Conway, AR 72032 (United States); Van Hoose, James R. [Siemens, Orlando, FL 32826 (United States); McGill, Preston B. [Marshall Space Flight Center, EM20, Huntsville, AL 35812 (United States); Grugel, Richard N., E-mail: richard.n.grugel@nasa.gov [Marshall Space Flight Center, EM30, Huntsville, AL 35812 (United States)

    2012-05-30

    Highlights: Black-Right-Pointing-Pointer A room temperature liquid Ga-In alloy was successfully substituted for mercury. Black-Right-Pointing-Pointer Physically sound amalgams with included steel fibers can be made. Black-Right-Pointing-Pointer A small volume fraction inclusion of fibers increased strength by {approx}20%. - Abstract: Mercury amalgams, due to their material properties, are widely and successfully used in dental practice. They are, however, also well recognized as having poor tensile strength. With the possibility of expanding amalgam applications it is demonstrated that tensile strength can be increased some 20% by including a small amount of steel fibers. Furthermore, it is shown that mercury can be replaced with a room temperature liquid gallium-indium alloy. Processing, microstructures, and mechanical test results of these novel amalgams are presented and discussed in view of means to further improve their properties.

  5. Sonic-boom-induced building structure responses including damage.

    Science.gov (United States)

    Clarkson, B. L.; Mayes, W. H.

    1972-01-01

    Concepts of sonic-boom pressure loading of building structures and the associated responses are reviewed, and results of pertinent theoretical and experimental research programs are summarized. The significance of sonic-boom load time histories, including waveshape effects, are illustrated with the aid of simple structural elements such as beams and plates. Also included are discussions of the significance of such other phenomena as three-dimensional loading effects, air cavity coupling, multimodal responses, and structural nonlinearities. Measured deflection, acceleration, and strain data from laboratory models and full-scale building tests are summarized, and these data are compared, where possible, with predicted values. Damage complaint and claim experience due both to controlled and uncontrolled supersonic flights over communities are summarized with particular reference to residential, commercial, and historic buildings. Sonic-boom-induced building responses are compared with those from other impulsive loadings due to natural and cultural events and from laboratory simulation tests.

  6. Outcomes Among Pregnant Women Included in the Operation TOMODACHI Registry

    Science.gov (United States)

    2013-02-12

    Table 1 shows the status of potentially-exposed pregnancies. Pregnancy outcomes include live delivery, spontaneous loss, and induced abortion ...birth defects, which are defined according to the Case Definition of the National Birth Defects Prevention Network.3 Additional uses for these data...pregnancy outcome in the electronic medical data/records. Overall, the live delivery rates are quite high and the spontaneous loss rates are quite

  7. Search for BSM physics including dark matter at ATLAS

    CERN Document Server

    Ju, Xiangyang; The ATLAS collaboration

    2016-01-01

    The increased centre-of-mass energy of the proton-proton collisions of the LHC run 2 gives a unique opportunity to extend the sensitivity to the production of particles not foreseen by the Standard Model. This talk summarises recent ATLAS results on BSM searches. Although the focus is on searches for production of DM particles, results include searches for heavy resonances in many final states and for production of supersymmetric particles.

  8. Evaporative cooler including one or more rotating cooler louvers

    Energy Technology Data Exchange (ETDEWEB)

    Gerlach, David W

    2015-02-03

    An evaporative cooler may include an evaporative cooler housing with a duct extending therethrough, a plurality of cooler louvers with respective porous evaporative cooler pads, and a working fluid source conduit. The cooler louvers are arranged within the duct and rotatably connected to the cooler housing along respective louver axes. The source conduit provides an evaporative cooler working fluid to the cooler pads during at least one mode of operation.

  9. Circuit Modeling of a MEMS Varactor Including Dielectric Charging Dynamics

    Science.gov (United States)

    Giounanlis, P.; Andrade-Miceli, D.; Gorreta, S.; Pons-Nin, J.; Dominguez-Pumar, M.; Blokhina, E.

    2016-10-01

    Electrical models for MEMS varactors including the effect of dielectric charging dynamics are not available in commercial circuit simulators. In this paper a circuit model using lumped ideal elements available in the Cadence libraries and a basic Verilog-A model, has been implemented. The model has been used to simulate the dielectric charging in function of time and its effects over the MEMS capacitance value.

  10. Prenatal susceptibility to carcinogenesis by xenobiotic substances including vinyl chloride.

    OpenAIRE

    Rice, J M

    1981-01-01

    The carcinogenicity of vinyl chloride for experimental animals when administered transplacentally is reviewed in comparison with known transplacental carcinogens, including those that, like vinyl chloride, are dependent on enzyme-mediated metabolic conversion to a reactive intermediate in maternal or fetal tissues. Vinyl chloride is converted by mixed-function oxidases to the reactive metabolite chlorooxirane, the carcinogenicity of which is also reviewed. Vinyl chloride is unequivocally a tr...

  11. Tuneable photonic device including an array of metamaterial resonators

    Energy Technology Data Exchange (ETDEWEB)

    Brener, Igal; Wanke, Michael; Benz, Alexander

    2017-03-14

    A photonic apparatus includes a metamaterial resonator array overlying and electromagnetically coupled to a vertically stacked plurality of quantum wells defined in a semiconductor body. An arrangement of electrical contact layers is provided for facilitating the application of a bias voltage across the quantum well stack. Those portions of the semiconductor body that lie between the electrical contact layers are conformed to provide an electrically conductive path between the contact layers and through the quantum well stack.

  12. An Axisymmetrical Acoustic BEM Formulation Including Visco-Thermal Losses

    DEFF Research Database (Denmark)

    Cutanda Henriquez, Vicente; Juhl, Peter Møller

    2011-01-01

    dimensions. However, this is not usually true for small devices such as microphones, hearing aids, couplers, MEMS devices, mobile phones, etc., and then the losses need to be modeled. In this paper a numerical implementation of the Boundary Element Method (BEM) which includes visco-thermal losses...... of the boundary into elements is adequate and the problem has a manageable size. The method can be extended to full three-dimensional BEM....

  13. Chiral-scale effective theory including a dilatonic meson

    CERN Document Server

    Li, Yan-Ling; Rho, Mannque

    2016-01-01

    A scale-invariant chiral effective Lagrangian is constructed for octet pions and a dilaton figuring as Nambu-Goldstone bosons with vector mesons incorporated as hidden gauge fields. The Lagrangian is built to the next-to-leading order in chiral-scale counting without baryon fields and then to leading order including baryons. The resulting theory is hidden scale-symmetric and local symmetric. We also discuss some possible applications of the present Lagrangian.

  14. New chemical evolution analytical solutions including environment effects

    CERN Document Server

    Spitoni, E

    2015-01-01

    In the last years, more and more interest has been devoted to analytical solutions, including inflow and outflow, to study the metallicity enrichment in galaxies. In this framework, we assume a star formation rate which follows a linear Schmidt law, and we present new analytical solutions for the evolution of the metallicity (Z) in galaxies. In particular, we take into account environmental effects including primordial and enriched gas infall, outflow, different star formation efficiencies, and galactic fountains. The enriched infall is included to take into account galaxy-galaxy interactions. Our main results can be summarized as: i) when a linear Schmidt law of star formation is assumed, the resulting time evolution of the metallicity Z is the same either for a closed-box model or for an outflow model. ii) The mass-metallicity relation for galaxies which suffer a chemically enriched infall, originating from another evolved galaxy with no pre-enriched gas, is shifted down in parallel at lower Z values, if co...

  15. Electrolytes including fluorinated solvents for use in electrochemical cells

    Science.gov (United States)

    Tikhonov, Konstantin; Yip, Ka Ki; Lin, Tzu-Yuan

    2015-07-07

    Provided are electrochemical cells and electrolytes used to build such cells. The electrolytes include ion-supplying salts and fluorinated solvents capable of maintaining single phase solutions with the salts at between about -30.degree. C. to about 80.degree. C. The fluorinated solvents, such as fluorinated carbonates, fluorinated esters, and fluorinated esters, are less flammable than their non-fluorinated counterparts and increase safety characteristics of cells containing these solvents. The amount of fluorinated solvents in electrolytes may be between about 30% and 80% by weight not accounting weight of the salts. Fluorinated salts, such as fluoroalkyl-substituted LiPF.sub.6, fluoroalkyl-substituted LiBF.sub.4 salts, linear and cyclic imide salts as well as methide salts including fluorinated alkyl groups, may be used due to their solubility in the fluorinated solvents. In some embodiments, the electrolyte may also include a flame retardant, such as a phosphazene or, more specifically, a cyclic phosphazene and/or one or more ionic liquids.

  16. Transport Phenomena in Thin Rotating Liquid Films Including: Nucleate Boiling

    Science.gov (United States)

    Faghri, Amir

    2005-01-01

    In this grant, experimental, numerical and analytical studies of heat transfer in a thin liquid film flowing over a rotating disk have been conducted. Heat transfer coefficients were measured experimentally in a rotating disk heat transfer apparatus where the disk was heated from below with electrical resistance heaters. The heat transfer measurements were supplemented by experimental characterization of the liquid film thickness using a novel laser based technique. The heat transfer measurements show that the disk rotation plays an important role on enhancement of heat transfer primarily through the thinning of the liquid film. Experiments covered both momentum and rotation dominated regimes of the flow and heat transfer in this apparatus. Heat transfer measurements have been extended to include evaporation and nucleate boiling and these experiments are continuing in our laboratory. Empirical correlations have also been developed to provide useful information for design of compact high efficiency heat transfer devices. The experimental work has been supplemented by numerical and analytical analyses of the same problem. Both numerical and analytical results have been found to agree reasonably well with the experimental results on liquid film thickness and heat transfer Coefficients/Nusselt numbers. The numerical simulations include the free surface liquid film flow and heat transfer under disk rotation including the conjugate effects. The analytical analysis utilizes an integral boundary layer approach from which

  17. Modeling heart rate variability including the effect of sleep stages

    Science.gov (United States)

    Soliński, Mateusz; Gierałtowski, Jan; Żebrowski, Jan

    2016-02-01

    We propose a model for heart rate variability (HRV) of a healthy individual during sleep with the assumption that the heart rate variability is predominantly a random process. Autonomic nervous system activity has different properties during different sleep stages, and this affects many physiological systems including the cardiovascular system. Different properties of HRV can be observed during each particular sleep stage. We believe that taking into account the sleep architecture is crucial for modeling the human nighttime HRV. The stochastic model of HRV introduced by Kantelhardt et al. was used as the initial starting point. We studied the statistical properties of sleep in healthy adults, analyzing 30 polysomnographic recordings, which provided realistic information about sleep architecture. Next, we generated synthetic hypnograms and included them in the modeling of nighttime RR interval series. The results of standard HRV linear analysis and of nonlinear analysis (Shannon entropy, Poincaré plots, and multiscale multifractal analysis) show that—in comparison with real data—the HRV signals obtained from our model have very similar properties, in particular including the multifractal characteristics at different time scales. The model described in this paper is discussed in the context of normal sleep. However, its construction is such that it should allow to model heart rate variability in sleep disorders. This possibility is briefly discussed.

  18. Disseminated glioneuronal tumors occurring in childhood: treatment outcomes and BRAF alterations including V600E mutation.

    Science.gov (United States)

    Dodgshun, Andrew J; SantaCruz, Nadine; Hwang, Jaeho; Ramkissoon, Shakti H; Malkin, Hayley; Bergthold, Guillaume; Manley, Peter; Chi, Susan; MacGregor, Duncan; Goumnerova, Liliana; Sullivan, Michael; Ligon, Keith; Beroukhim, Rameen; Herrington, Betty; Kieran, Mark W; Hansford, Jordan R; Bandopadhayay, Pratiti

    2016-06-01

    Disseminated glioneuronal tumors of childhood are rare. We present a retrospective IRB-approved review of the clinical course and frequency of BRAF mutations in disseminated glioneuronal tumors at two institutions. Defining features of our cohort include diffuse leptomeningeal-spread, often with a discrete spinal cord nodule and oligodendroglioma-like histologic features. Patients were identified through a pathology database search of all cases with disseminated low-grade neoplasms with an oligodendroglioma-like component. De-identified clinical information was collected by chart review and all imaging was reviewed. We retrieved the results of targeted genomic analyses for alterations in BRAF. Ten patients (aged 2-14 years) were identified from the Dana-Farber/Boston Children's Hospital and the Royal Children's Hospital, Melbourne pathology databases. Nine patients received chemotherapy. Eight patients are alive, although three have had episodes of progressive disease. We identified genomic alterations affecting the MAPK pathway in six patients. One patient had a germline RAF1 mutation and a clinical diagnosis of cardio-facio-cutaneous syndrome. BRAF duplications were identified in four and BRAF V600E mutation was identified in one. These data support the presence of targetable genomic alterations in this disease.

  19. The COG database: an updated version includes eukaryotes

    Directory of Open Access Journals (Sweden)

    Sverdlov Alexander V

    2003-09-01

    Full Text Available Abstract Background The availability of multiple, essentially complete genome sequences of prokaryotes and eukaryotes spurred both the demand and the opportunity for the construction of an evolutionary classification of genes from these genomes. Such a classification system based on orthologous relationships between genes appears to be a natural framework for comparative genomics and should facilitate both functional annotation of genomes and large-scale evolutionary studies. Results We describe here a major update of the previously developed system for delineation of Clusters of Orthologous Groups of proteins (COGs from the sequenced genomes of prokaryotes and unicellular eukaryotes and the construction of clusters of predicted orthologs for 7 eukaryotic genomes, which we named KOGs after eukaryotic orthologous groups. The COG collection currently consists of 138,458 proteins, which form 4873 COGs and comprise 75% of the 185,505 (predicted proteins encoded in 66 genomes of unicellular organisms. The eukaryotic orthologous groups (KOGs include proteins from 7 eukaryotic genomes: three animals (the nematode Caenorhabditis elegans, the fruit fly Drosophila melanogaster and Homo sapiens, one plant, Arabidopsis thaliana, two fungi (Saccharomyces cerevisiae and Schizosaccharomyces pombe, and the intracellular microsporidian parasite Encephalitozoon cuniculi. The current KOG set consists of 4852 clusters of orthologs, which include 59,838 proteins, or ~54% of the analyzed eukaryotic 110,655 gene products. Compared to the coverage of the prokaryotic genomes with COGs, a considerably smaller fraction of eukaryotic genes could be included into the KOGs; addition of new eukaryotic genomes is expected to result in substantial increase in the coverage of eukaryotic genomes with KOGs. Examination of the phyletic patterns of KOGs reveals a conserved core represented in all analyzed species and consisting of ~20% of the KOG set. This conserved portion of the

  20. Global anthropogenic emissions of particulate matter including black carbon

    Directory of Open Access Journals (Sweden)

    Z. Klimont

    2017-07-01

    Full Text Available This paper presents a comprehensive assessment of historical (1990–2010 global anthropogenic particulate matter (PM emissions including the consistent and harmonized calculation of mass-based size distribution (PM1, PM2. 5, PM10, as well as primary carbonaceous aerosols including black carbon (BC and organic carbon (OC. The estimates were developed with the integrated assessment model GAINS, where source- and region-specific technology characteristics are explicitly included. This assessment includes a number of previously unaccounted or often misallocated emission sources, i.e. kerosene lamps, gas flaring, diesel generators, refuse burning; some of them were reported in the past for selected regions or in the context of a particular pollutant or sector but not included as part of a total estimate. Spatially, emissions were calculated for 172 source regions (as well as international shipping, presented for 25 global regions, and allocated to 0.5°  ×  0.5° longitude–latitude grids. No independent estimates of emissions from forest fires and savannah burning are provided and neither windblown dust nor unpaved roads emissions are included. We estimate that global emissions of PM have not changed significantly between 1990 and 2010, showing a strong decoupling from the global increase in energy consumption and, consequently, CO2 emissions, but there are significantly different regional trends, with a particularly strong increase in East Asia and Africa and a strong decline in Europe, North America, and the Pacific region. This in turn resulted in important changes in the spatial pattern of PM burden, e.g. European, North American, and Pacific contributions to global emissions dropped from nearly 30 % in 1990 to well below 15 % in 2010, while Asia's contribution grew from just over 50 % to nearly two-thirds of the global total in 2010. For all PM species considered, Asian sources represented over 60 % of the global