Effects of ICT Group Work on Interactions and Social Acceptance of a Primary Pupil with Asperger's Syndrome

ERIC Educational Resources Information Center

Lewis, Lynda; Trushell, John; Woods, Pat

2005-01-01

The aim of this study was to ascertain whether collaborative group work on a computer, facilitated by an adult, could provide a means for a primary schoolboy with Asperger's Syndrome (AS) -- moderately-highly affected in all areas of the "triad of impairments" -- to develop appropriate task-related interactions with his peers. Data were gathered…

Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date.

PubMed

Hart, Sarah J; Visootsak, Jeannie; Tamburri, Paul; Phuong, Patrick; Baumer, Nicole; Hernandez, Maria-Clemencia; Skotko, Brian G; Ochoa-Lubinoff, Cesar; Liogier D'Ardhuy, Xavier; Kishnani, Priya S; Spiridigliozzi, Gail A

2017-11-01

Although an increasing number of clinical trials have been developed for cognition in Down syndrome, there has been limited success to date in identifying effective interventions. This review describes the progression from pre-clinical studies with mouse models to human clinical trials research using pharmacological interventions to improve cognition and adaptive functioning in Down syndrome. We also provide considerations for investigators when conducting human clinical trials and describe strategies for the pharmaceutical industry to advance the field in drug discovery for Down syndrome. Future research focusing on earlier pharmaceutical interventions, development of appropriate outcome measures, and greater collaboration between industry, academia, advocacy, and regulatory groups will be important for addressing limitations from prior studies and developing potential effective interventions for cognition in Down syndrome. © 2017 Wiley Periodicals, Inc.

Older paternal age and fresh gene mutation: data on additional disorders.

PubMed

Jones, K L; Smith, D W; Harvey, M A; Hall, B D; Quan, L

1975-01-01

Older paternal age has previously been documented as a factor in sporadic fresh mutational cases of several autosomal dominant disorders. In this collaborative study, an older mean paternal age has been documented in sporadic cases of at least five additional dominantly inheritable disorders; the basal cell nevus syndrome, the Waardenburg syndrome, the Crouzon syndrome, the oculo-dental-digital sysdrome, and the Treacher-Collins syndrome. It was also found to be a factor in acrodysostosis and progeria, suggesting a fresh mutant gene etiology for these two conditions in which virtually all cases have been sporadic and the mode of genetic etiology has been unknown.

Western and traditional medicine: cultural beliefs and practices of South African Muslims with regard to Down syndrome.

PubMed

Dangor, Tasneem; Ross, Eleanor

2006-01-01

The aim of the study was to investigate the beliefs and practices of caregivers and traditional healers within the South African Muslim community regarding Down syndrome. An exploratory-descriptive research design was utilized which incorporated individual interviews with 10 caregivers of persons with Down syndrome as well as 10 traditional healers from the South African Muslim community. Common beliefs emanating from both groups relating to the cause of Down syndrome included the notion that this condition was genetic in origin and that such children were perceived to be gifts from God. Others attributed Down syndrome to a punishment from God or the result of curses from people. Treatment included the use of inscriptions from the Quraan, water that had been prayed over and herbal medicines. Some caregivers seemed reluctant to approach western health care professionals due to negative past experiences. The main reasons for consulting traditional healers were cultural beliefs and pressure from family members, their holistic approach and the personal nature of their interventions. Collaboration between allopathic medicine and traditional healing was advocated by almost all of the traditional healers. These findings underline the need for culturally sensitive rehabilitation practices in speech-language pathology and audiology; and collaboration between western health care practitioners and traditional healers.

Systematic reviews of physical and rehabilitation medicine Cochrane contents. Part 1. Disabilities due to spinal disorders and pain syndromes in adults.

PubMed

Negrini, S; Imperio, G; Villafañe, J H; Negrini, F; Zaina, F

2013-08-01

This article is the first in a series presenting the strongest published evidence for physical and rehabilitation medicine (PRM) to date coming from the Cochrane Collaboration. The intent of the series is to stimulate ideas for reviews and research in neglected areas of PRM. To systematically review the rehabilitation contents of the Cochrane Collaboration on disabilities due to spinal disorders or pain syndromes in adults. The Cochrane Database of Systematic Reviews was searched at the end of June 2013 for articles relevant for PRM about disabilities resulting from spinal disorders or pain syndromes in adults. Retrieved papers were classified according to the PRM approach: active therapies, which require active participation by patients to achieve treatment goals, and passive treatments, which rely on the application of external forces. The quality of the reviews was checked against the AMSTAR checklist. Reviews on spinal disorders or pain syndromes were found in the Cochrane Back Group (CBG) and in the Pain, Palliative and Supportive Care Group (CPPSCG). Thirty-eight (42.8%) of 89 Cochrane reviews in the CBG and 7 (2.4%) of 293 Cochrane reviews in the CPPSCG were included. All were of high quality (range, 8-11 points out of 11 on the AMSTAR checklist). The contents of the reviews are given in detail. This review presents an overview of the current evidence for PRM in the treatment of disabilities due to spinal disorders or pain syndromes in adults. Within PRM there is ample space for research in the Cochrane Collaboration and for producing original studies (randomized controlled trials [RCTs]). To apply evidence-based clinical practice, clinicians must be familiar with the current best evidence.

Collaboration in Referential Communication: Comparison of Youth with Down Syndrome or Fragile X Syndrome

ERIC Educational Resources Information Center

Abbeduto, Leonard; Murphy, Melissa M.; Richmond, Erica K.; Amman, Adrienne; Beth, Patti; Weissman, Michelle D.; Kim, Jee-Seon; Cawthon, Stephanie W.; Karadottir, Selma

2006-01-01

Referential communication was examined in youth with Down syndrome or fragile X syndrome in comparison to each other and to MA-matched typically developing children. A non-face-to-face task was used in which the participant repeatedly described novel shapes to listeners. Several dimensions of referential communication were especially challenging…

A “burning” therapy for burning mouth syndrome: preliminary results with the administration of topical capsaicin.

PubMed

Azzi, L; Croveri, F; Pasina, L; Porrini, M; Vinci, R; Manfredini, M; Tettamanti, L; Tagliabue, A; Silvestre-Rangil, J; Spadari, F

2017-01-01

Burning mouth syndrome is defined as an intraoral burning sensation for which no medical or dental cause can be found. Recently, researchers have demonstrated an altered trophism of the small nerve fibres and alterations in the numbers of TRPV-1 vanilloid receptors. Capsaicin is a molecule that is contained in hot peppers and is specifically detected by TRPV-1 vanilloid receptors that are distributed in the oral mucosae. We aimed at verifying if topical capsaicin could prove to be an effective treatment of Burning Mouth Syndrome. A group of 99 BMS patients were recruited. We subdivided the BMS patients into two groups: the collaborative patients, who expressed a predominantly neuropathic pattern of symptoms, and the non-collaborative patients, who were characterised by stronger psychogenic patterns of the syndrome. Both groups underwent topical therapy with capsaicin in the form of a mouth rinse 3 times a day for a long period. After 1 year of treatment, the final overall success rate was approximately 78%, but with a significant difference in the success rates of the two groups of patients (87% and 20% among the collaborative and non-collaborative patients, respectively; p=0.000). The use of topical capsaicin can improve the oral discomfort of BMS patients, especially during the first month of therapy, but it is more effective for those patients in which the neuropathic component of the syndrome is predominant. Our hypothesis is that chronic stimulation with capsaicin leads to decreases in burning symptoms. This phenomenon is called desensitisation and is accompanied by substantial improvements in oral symptoms.

Guillain-Barré syndrome.

PubMed

Willison, Hugh J; Jacobs, Bart C; van Doorn, Pieter A

2016-08-13

Guillain-Barré syndrome is the most common and most severe acute paralytic neuropathy, with about 100,000 people developing the disorder every year worldwide. Under the umbrella term of Guillain-Barré syndrome are several recognisable variants with distinct clinical and pathological features. The severe, generalised manifestation of Guillain-Barré syndrome with respiratory failure affects 20-30% of cases. Treatment with intravenous immunoglobulin or plasma exchange is the optimal management approach, alongside supportive care. Understanding of the infectious triggers and immunological and pathological mechanisms has advanced substantially in the past 10 years, and is guiding clinical trials investigating new treatments. Investigators of large, worldwide, collaborative studies of the spectrum of Guillain-Barré syndrome are accruing data for clinical and biological databases to inform the development of outcome predictors and disease biomarkers. Such studies are transforming the clinical and scientific landscape of acute autoimmune neuropathies. Copyright © 2016 Elsevier Ltd. All rights reserved.

A personal 35 year perspective on Gilles de la Tourette syndrome: assessment, investigations, and management.

PubMed

Robertson, Mary M

2015-01-01

After having examined the definition, clinical phenomenology, comorbidity, psychopathology, and phenotypes in the first paper of this Series, here I discuss the assessment, including neuropsychology, and the effects of Gilles de la Tourette syndrome with studies showing that the quality of life of patients with Tourette's syndrome is reduced and that there is a substantial burden on the family. In this paper, I review my local and collaborative studies investigating causal factors (including genetic vulnerability, prenatal and perinatal difficulties, and neuro-immunological factors). I also present my studies on neuro-imaging, electro-encephalograms, and other special investigations, which are helpful in their own right or to exclude other conditions. Finally, I also review our studies on treatment including medications, transcranial magnetic stimulation, biofeedback, target-specific botulinum toxin injections, biofeedback and, in severe refractory adults, psychosurgery and deep brain stimulation. This Review summarises and highlights selected main findings from my clinic (initially The National Hospital for Neurology and Neurosurgery Queen Square and University College London, UK, and, subsequently, at St George's Hospital, London, UK), and several collaborations since 1980. As in Part 1 of this Series, I address the main controversies in the fields and the research of other groups, and I make suggestions for future research. Copyright © 2015 Elsevier Ltd. All rights reserved.

Tourette Syndrome: A Collaborative Approach Focused on Empowering Students, Families and Teachers

ERIC Educational Resources Information Center

Christner, Beth; Dieker, Lisa A.

2008-01-01

Tourette syndrome (TS) is a neurobiological disorder marked by a wide range of involuntary motor and vocal movements and sounds called "tics" (American Psychiatric Association, APA, 2000). This syndrome is frequently misunderstood and difficult to diagnose (Chamberlain, 2003). Recent television shows featuring the topic of TS such as "The Oprah…

Human Antibodies Against Middle East Respiratory Syndrome Coronavirus | NCI Technology Transfer Center | TTC

Cancer.gov

The National Cancer Institute is seeking statements of capability or interest from parties interested in collaborative research to co-develop antibody-based therapeutic against MERS-CoV, including animal studies, cGMP manufacturing, and clinical trials.

Emotional preferences and goals and emotion dysregulation in children with Asperger's syndrome and typically developing children.

PubMed

López-Pérez, Belén; Ambrona, Tamara; Gummerum, Michaela

2018-02-05

Emotion goals lie at the heart of emotion regulation, as people have to first decide what emotions they want to feel before engaging in emotion regulation. Given that children with Asperger's syndrome (AS) are characterized by exhibiting difficulties in emotion regulation, studying whether they display similar or different emotion goals compared to typically developing (TD) children may provide insightful information. Thirty AS and 30 TD children (10-12 years) reported about their general (i.e., how they want to feel in general) and contextualized (i.e., how they want to feel when confronting vs. collaborating with someone) emotion goals, and about their difficulties in emotion regulation through questionnaires. Results showed that both groups did not differ in their general emotional goals and in their contextualized emotion goals for happiness for collaboration and anger for confrontation. AS children only differed from TD children in a higher preference for sadness for collaboration and happiness for confrontation. These emotion goals predicted their difficulties to engage in goal-directed behaviour. The obtained results support the need to further study emotion goals as an aspect of emotion dysregulation, namely the difficulties to engage in goal-directed behaviour when experiencing different emotions. AS and TD children did not differ in their general emotion goals. AS and TD children did not vary in their preferences for happiness for collaboration and anger for confrontation. AS children only differed in a higher preference for sadness for collaboration and happiness for confrontation. Understanding emotion goals might help practitioners to develop better interventions. © 2018 The British Psychological Society.

[Succesful collaborations between three Mexican institutions for research on dislipidemias, obesity and diabetes].

PubMed

Aguilar-Salinas, Carlos A; Canizales-Quinteros, Samuel; Rojas-Martínez, Rosalba; García-García, Eduardo; Olaiz-Fernández, Gustavo; Gómez-Pérez, Francisco J; Tusié-Luna, María Teresa

2007-01-01

To describe the contributions ofthree Mexican institutions (Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán", Universidad Nacional Autónoma de México and the Centro de Encuestas Nacionales de Salud of the Instituto Nacional de Salud Pública) in the study, of chronic degenerative disorders. The most relevant group contributions include: the identification of a risk allele for metabolic syndrome and diabetes, specific for the Mexican population (the R230C variant of the ABC-A1 transporter); the design and validation of a population-based definition of metabolic syndrome which is useful to predict the risk of incident diabetes; the description of the molecular epidemiology of familial hypercholesterolemia in Mexico and the identification of several loci associated with familial combined hyperlipidemia. In addition, members of these institutions have participated in the description of the epidemiology of diabetes, metabolic syndrome and lipid abnormalities. The complementary approach of these research groups has facilitated successful collaborations. Our results will be useful for the future development of diagnostic tests and preventive programs.

Qualitative study: the experience and impact of living with Behcet's syndrome.

PubMed

Tai, Vicky; Lindsay, Karen; Sims, Joanne L; McQueen, Fiona M

2017-09-22

Behcet's syndrome is a rare chronic multisystemic vasculitis of unknown aetiology, is unpredictable and can cause life-threatening complications. This qualitative study aims to explore the experiences of patients living with Behcet's syndrome in New Zealand. Eight English-speaking patients participated in in-depth semi-structured interviews about their experiences of living with Behcet's syndrome. Interviews were recorded and transcribed. Data were analysed using a general inductive thematic approach. Five themes related to the experience of Behcet's syndrome emerged from the interviews: diagnosis (diagnostic challenge and closure), impact of disease (pain, fatigue, reduced vision, fear and uncertainty), loneliness and isolation (lack of support and information, invisible illness), acquiring resilience (coping, gaining sense of control, support group) and ongoing interactions with health system (specialist care, primary care, need for multidisciplinary care, doctor-patient relationship). Behcet's syndrome patients experience difficulties in obtaining a timely and correct diagnosis and contend numerous physical and emotional challenges, often experiencing loneliness and isolation. Establishing trusting doctor-patient relationships, allowing timely access to specialist care and recruiting psychosocial supports will help patients better cope with their illness. Diagnosis and management of Behcet's syndrome requires close collaboration and communication among specialists and general practitioners and improved education on Behcet's syndrome.

[Obesity and metabolic syndrome in adolescents].

PubMed

Cárdenas Villarreal, Velia Margarita; Rizo-Baeza, María M; Cortés Castell, Ernesto

2009-03-01

In spite of the lack of a uniform definition for metabolic syndrome in pediatry, recent studies have shown that it develops during childhood and is highly prevalent among children and adolescents who suffer from obesity. In light of the current epidemic of obesity in this age category in western countries, and specifically in Mexico, it becomes essential to know the means to prevent, detect and treat this syndrome. Nurses play an important role in promoting childhood health with regards to metabolic syndrome. To put into practice the strategies which resolve underlying problems related with this syndrome is a priority for the well-being of this age group. These strategies should include the application and management of public policies; the collaboration by health services, social services and schools; but, furthermore, the prevention and the management of this syndrome require a family commitment, while the changes in living habits benefit the entire family. This review article proposes to introduce prevention, diagnostic and treatment strategies which nursing personnel can carry out while dealing with metabolic syndrome in adolescents.

Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses.

PubMed

Ajayi, Oluwaseun Jessica; Smith, Ebony Jeannae; Viangteeravat, Teeradache; Huang, Eunice Y; Nagisetty, Naga Satya V Rao; Urraca, Nora; Lusk, Laina; Finucane, Brenda; Arkilo, Dimitrios; Young, Jennifer; Jeste, Shafali; Thibert, Ronald; Reiter, Lawrence T

2017-10-18

Chromosome 15q11.2-q13.1 duplication syndrome (Dup15q syndrome) is a rare disorder caused by duplications of chromosome 15q11.2-q13.1, resulting in a wide range of developmental disabilities in affected individuals. The Dup15q Alliance is an organization that provides family support and promotes research to improve the quality of life of patients living with Dup15q syndrome. Because of the low prevalence of this condition, the establishment of a single research repository would have been difficult and more time consuming without collaboration across multiple institutions. The goal of this project is to establish a national deidentified database with clinical and survey information on individuals diagnosed with Dup15q syndrome. The development of a multiclinic site repository for clinical and survey data on individuals with Dup15q syndrome was initiated and supported by the Dup15q Alliance. Using collaborative workflows, communication protocols, and stakeholder engagement tools, a comprehensive database of patient-centered information was built. We successfully established a self-report populating, centralized repository for Dup15q syndrome research. This repository also resulted in the development of standardized instruments that can be used for other studies relating to developmental disorders. By standardizing the data collection instruments, it allows us integrate our data with other national databases, such as the National Database for Autism Research. A substantial portion of the data collected from the questionnaires was facilitated through direct engagement of participants and their families. This allowed for a more complete set of information to be collected with a minimal turnaround time. We developed a repository that can efficiently be mined for shared clinical phenotypes observed at multiple clinic sites and used as a springboard for future clinical and basic research studies. ©Oluwaseun Jessica Ajayi, Ebony Jeannae Smith, Teeradache Viangteeravat, Eunice Y Huang, Naga Satya V Rao Nagisetty, Nora Urraca, Laina Lusk, Brenda Finucane, Dimitrios Arkilo, Jennifer Young, Shafali Jeste, Ronald Thibert, The Dup15q Alliance, Lawrence T Reiter. Originally published in JMIR Research Protocols (http://www.researchprotocols.org), 18.10.2017.

[Indicator condition guided human immunodeficiency virus requesting in primary health care: results of a collaboration].

PubMed

Cayuelas-Redondo, Laia; Menacho-Pascual, Ignacio; Noguera-Sánchez, Pablo; Goicoa-Gago, Carmen; Pollio-Peña, Gernónimo; Blanco-Delgado, Rebeca; Barba-Ávila, Olga; Sequeira-Aymar, Ethel; Muns, Mercè; Clusa, Thais; García, Felipe; León, Agathe

2015-12-01

The search of HIV infected patients guided by indicator conditions (IC) is a strategy used to increase the early detection of HIV. The objective is to analyze whether a collaboration to raise awareness of the importance of early detection of HIV in 3 primary care centers influenced the proportion of HIV serology requested. Multicenter retrospective study was conducted comparing the baseline and a post-collaboration period. The collaboration consisted of training sessions and participation in the HIDES study (years 2009-2010). Patients between 18 and 64 years old with newly diagnosed herpes zoster, seborrheic eczema, mononucleosis syndrome, and leucopenia/thrombocytopenia in 3 primary care centers in 2008 (baseline period) and 2012 (post-collaboration period). The sociodemographic variables, HIV risk conditions, requests for HIV serology, and outcomes were evaluated. A total of 1,219 ICs were included (558 in 2008 and 661 in 2012). In 2008 the number of HIV tests in patients with an IC was 3.9%, and rose to 11.8% in 2012 (P<.0001). The HIV infection rate was 2.2% (95% CI: 0.4-7.3) (n=2). It was estimated that 25 new cases (12 in 2008 and 13 in 2012) would have been diagnosed if they had performed the test on all patients with IC. Predictors of HIV request were, having an IC in 2012, a younger age, having an mononucleosis syndrome, and not being Spanish. The HIV request demand tripled, after the collaboration with primary care centers, however in 88% the test was not requested, resulting in diagnostic losses. New strategies are needed to raise awareness of the importance of early detection of HIV. Copyright © 2015 Elsevier España, S.L.U. y Sociedad Española de Enfermedades Infecciosas y Microbiología Clínica. All rights reserved.

Post-thrombotic syndrome in children: a systematic review of frequency of occurrence, validity of outcome measures, and prognostic factors

PubMed Central

Goldenberg, Neil A.; Donadini, Marco P.; Kahn, Susan R.; Crowther, Mark; Kenet, Gili; Nowak-Göttl, Ulrike; Manco-Johnson, Marilyn J.

2010-01-01

Background Post-thrombotic syndrome is a manifestation of chronic venous insufficiency following deep venous thrombosis. This systematic review was conducted to critically evaluate pediatric evidence on frequency of occurrence, validity of outcome measures, and prognostic indicators of post-thrombotic syndrome. Design and Methods A comprehensive literature search of original reports revealed 19 eligible studies, totaling 977 patients with upper/lower extremity deep venous thrombosis. Calculated weighted mean frequency of post-thrombotic syndrome was 26% (95% confidence interval: 23–28%) overall, and differed significantly by prospective/non-prospective analysis and use/non-use of a standardized outcome measure. Results Standardized post-thrombotic syndrome outcome measures included an adaptation of the Villalta scale, the Clinical-Etiologic-Anatomic-Pathologic classification, and the Manco-Johnson instrument. Data on validity were reported only for the Manco-Johnson instrument. No publications on post-thrombotic syndrome-related quality of life outcomes were identified. Candidate prognostic factors for post-thrombotic syndrome in prospective studies included use/non-use of thrombolysis and plasma levels of factor VIII activity and D-dimer. Conclusions Given that affected children must endure chronic sequelae for many decades, it is imperative that future collaborative pediatric prospective cohort studies and trials assess as key objectives and outcomes the incidence, severity, prognostic indicators, and health impact of post-thrombotic syndrome, using validated measures. PMID:20595095

Incidence of Radiologically Isolated Syndrome: A Population-Based Study.

PubMed

Forslin, Y; Granberg, T; Jumah, A Antwan; Shams, S; Aspelin, P; Kristoffersen-Wiberg, M; Martola, J; Fredrikson, S

2016-06-01

Incidental MR imaging findings resembling MS in asymptomatic individuals, fulfilling the Okuda criteria, are termed "radiologically isolated syndrome." Those with radiologically isolated syndrome are at high risk of their condition converting to MS. The epidemiology of radiologically isolated syndrome remains largely unknown, and there are no population-based studies, to our knowledge. Our aim was to study the population-based incidence of radiologically isolated syndrome in a high-incidence region for MS and to evaluate the effect on radiologically isolated syndrome incidence when revising the original radiologically isolated syndrome criteria by using the latest radiologic classification for dissemination in space. All 2272 brain MR imaging scans in 1907 persons obtained during 2013 in the Swedish county of Västmanland, with a population of 259,000 inhabitants, were blindly evaluated by a senior radiologist and a senior neuroradiologist. The Okuda criteria for radiologically isolated syndrome were applied by using both the Barkhof and Swanton classifications for dissemination in space. Assessments of clinical data were performed by a radiology resident and a senior neurologist. The cumulative incidence of radiologically isolated syndrome was 2 patients (0.1%), equaling an incidence rate of 0.8 cases per 100,000 person-years, in a region with an incidence rate of MS of 10.2 cases per 100,000 person-years. There was no difference in the radiologically isolated syndrome incidence rate when applying a modified version of the Okuda criteria by using the newer Swanton classification for dissemination in space. Radiologically isolated syndrome is uncommon in a high-incidence region for MS. Adapting the Okuda criteria to use the dissemination in space-Swanton classification may be feasible. Future studies on radiologically isolated syndrome may benefit from a collaborative approach to ensure adequate numbers of participants. © 2016 by American Journal of Neuroradiology.

The Episodic Syndromes That Maybe Associated with Migraines.

PubMed

Lebron, Diana; Vasconcellos, Elza

2016-02-01

The "childhood periodic syndromes" have been renamed "the episodic syndromes that maybe associated with migraines". These syndromes were initially considered precursors of migraines that only occurred in childhood; however recent literature suggests that the episodic syndromes can occur in adults with known migraine and does not necessarily present as a precursor. This review article discusses the recent literature regarding the episodic syndromes and potential treatments. These disorders are seen by multiple subspecialists, therefore it is important to recognize and use the same definitions, criteria and nomenclature. A collaborative and multidisciplinary approach is critical to characterize, manage and potentially improve outcomes. Copyright © 2016 Elsevier Inc. All rights reserved.

Medical and psychological aspects of irritable bowel syndrome.

PubMed

Kim, E C; Dundon, M

1998-01-01

Irritable bowel syndrome is a disease process commonly encountered by primary care providers. Although the cause of this illness is unknown, much is known about the pathophysiology and strong psychosocial influences. Medical practitioners often are aware of the medical aspects of managing irritable bowel syndrome but are not familiar with specific psychologic options. Long-term care of these patients may be aided by collaboration with mental health professionals.

Development of Medical Technology for Contingency Response to Marrow Toxic Agents

DTIC Science & Technology

2016-10-07

Guidelines • Collaborated with REMM.nlm.gov on an update of acute radiation syndrome treatment guidelines • Conducted hospital readiness site assessments... Radiation Training, sending a physician to the REAC/TS training, conducting an Acute Radiation Syndrome Medical Grand rounds session, and having a...Information System ARD Antigen Recognition Domain ARRA The American Recovery and Reinvestment Act of 2009 ARS Acute Radiation Syndrome (also known

Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data: A report from the Marfan Treatment Trialists' Collaboration

PubMed Central

Pitcher, Alex; Emberson, Jonathan; Lacro, Ronald V.; Sleeper, Lynn A.; Stylianou, Mario; Mahony, Lynn; Pearson, Gail D.; Groenink, Maarten; Mulder, Barbara J.; Zwinderman, Aeilko H.; De Backer, Julie; De Paepe, Anne M.; Arbustini, Eloisa; Erdem, Guliz; Jin, Xu Yu; Flather, Marcus D.; Mullen, Michael J.; Child, Anne H.; Forteza, Alberto; Evangelista, Arturo; Chiu, Hsin-Hui; Wu, Mei-Hwan; Sandor, George; Bhatt, Ami B.; Creager, Mark A.; Devereux, Richard B.; Loeys, Bart; Forfar, J. Colin; Neubauer, Stefan; Watkins, Hugh; Boileau, Catherine; Jondeau, Guillaume; Dietz, Harry C.; Baigent, Colin

2015-01-01

Rationale A number of randomized trials are underway, which will address the effects of angiotensin receptor blockers (ARBs) on aortic root enlargement and a range of other end points in patients with Marfan syndrome. If individual participant data from these trials were to be combined, a meta-analysis of the resulting data, totaling approximately 2,300 patients, would allow estimation across a number of trials of the treatment effects both of ARB therapy and of β-blockade. Such an analysis would also allow estimation of treatment effects in particular subgroups of patients on a range of end points of interest and would allow a more powerful estimate of the effects of these treatments on a composite end point of several clinical outcomes than would be available from any individual trial. Design A prospective, collaborative meta-analysis based on individual patient data from all randomized trials in Marfan syndrome of (i) ARBs versus placebo (or open-label control) and (ii) ARBs versus β-blockers will be performed. A prospective study design, in which the principal hypotheses, trial eligibility criteria, analyses, and methods are specified in advance of the unblinding of the component trials, will help to limit bias owing to data-dependent emphasis on the results of particular trials. The use of individual patient data will allow for analysis of the effects of ARBs in particular patient subgroups and for time-to-event analysis for clinical outcomes. The meta-analysis protocol summarized in this report was written on behalf of the Marfan Treatment Trialists' Collaboration and finalized in late 2012, without foreknowledge of the results of any component trial, and will be made available online (http://www.ctsu.ox.ac.uk/research/meta-trials). PMID:25965707

High-Functioning Autism/Asperger Syndrome in Schools: Assessment and Intervention. Practical Intervention in the Schools Series

ERIC Educational Resources Information Center

Sansosti, Frank J.; Powell-Smith, Kelly A.; Cowan, Richard J.

2010-01-01

Meeting a growing need for school-based practitioners, this book provides vital tools for improving the academic, behavioral, and social outcomes of students with high-functioning autism or Asperger syndrome (HFA/AS). Research-based best practices are presented for conducting meaningful assessments; collaborating with teachers, students, and…

EMERGEncy ID NET: Review of a 20-Year Multisite Emergency Department Emerging Infections Research Network

PubMed Central

Santibanez, Scott; Fischer, Leah S; Krishnadasan, Anusha; Sederdahl, Bethany; Merlin, Toby; Moran, Gregory J; Talan, David A; Mower, William; Sullivan, Matthew; Abrahamian, Fredrick M; Ong, Sam; Gross, Eric; Salhi, Bisan; Heilpern, Katherine; Hess, Jeremy; Karras, David; Biros, Michelle; Dunbar, Lala; Takhar, Sukhjit; Pollack, Charles; Runge, Jeffrey; Cheney, Paul; Rothrock, Stephen; O’Brian, John; Citron, Diane; Goldstein, Ellie; Finegold, Sydney; Nakase, Janet; Newdow, Michael; Merchant, Guy; Pathmarajah, Kavitha; Gonzalez, Eva; Mulrow, Mary; Bussman, Silas; Kalugdnan, Vernon; Peterson, Stephen; Pitts, Seth; Narayan, Kamil; Rubin, Ada; Kemble, Laurie; Beckham, Danielle; Neal, Niccole; Yagapen, Annick; Von Hofen, Carol; Hatala, Kathleen; Fuentes, Shelley; Sibley, Debbi; Colucci, Ashley; Hernandez, Jackeline; Cruse, Hope; Usher, Sarah; Hendrickson, Audrey; Dehnkamp, Kimberly; Zeglin, Britney; Jambaulikar, Guruprasad; Gorwitz, Rachel; Limbago, Brandi; Kuehnert, Matthew; Jarvis, William; Slutsker, Larry; Arvay, Melissa; Conn, Laura

2017-01-01

Abstract As providers of frontline clinical care for patients with acute and potentially life-threatening infections, emergency departments (EDs) have the priorities of saving lives and providing care quickly and efficiently. Although these facilities see a diversity of patients 24 hours per day and can collect prospective data in real time, their ability to conduct timely research on infectious syndromes is not well recognized. EMERGEncy ID NET is a national network that demonstrates that EDs can also collect data and conduct research in real time. This network collaborates with the Centers for Disease Control and Prevention (CDC) and other partners to study and address a wide range of infectious diseases and clinical syndromes. In this paper, we review selected highlights of EMERGEncy ID NET’s history from 1995 to 2017. We focus on the establishment of this multisite research network and the network’s collaborative research on a wide range of ED clinical topics. PMID:29670931

Public Health Network Structure and Collaboration Effectiveness during the 2015 MERS Outbreak in South Korea: An Institutional Collective Action Framework

PubMed Central

Andrew, Simon A.

2017-01-01

Following the 2015 Middle East Respiratory Syndrome (MERS) outbreak in South Korea, this research aims to examine the structural effect of public health network explaining collaboration effectiveness, which is defined as joint efforts to improve quality of service provision, cost savings, and coordination. We tested the bonding and bridging effects on collaboration effectiveness during the MERS outbreak response by utilizing an institutional collective action framework. The analysis results of 114 organizations responding during the crisis show a significant association between the bonding effect and the effectiveness of collaboration, as well as a positive association between risk communication in disseminating public health information and the effectiveness of collaboration. PMID:28914780

Further delineation of Malan syndrome.

PubMed

Priolo, Manuela; Schanze, Denny; Tatton-Brown, Katrin; Mulder, Paul A; Tenorio, Jair; Kooblall, Kreepa; Acero, Inés Hernández; Alkuraya, Fowzan S; Arias, Pedro; Bernardini, Laura; Bijlsma, Emilia K; Cole, Trevor; Coubes, Christine; Dapia, Irene; Davies, Sally; Di Donato, Nataliya; Elcioglu, Nursel H; Fahrner, Jill A; Foster, Alison; González, Noelia García; Huber, Ilka; Iascone, Maria; Kaiser, Ann-Sophie; Kamath, Arveen; Liebelt, Jan; Lynch, Sally Ann; Maas, Saskia M; Mammì, Corrado; Mathijssen, Inge B; McKee, Shane; Menke, Leonie A; Mirzaa, Ghayda M; Montgomery, Tara; Neubauer, Dorothee; Neumann, Thomas E; Pintomalli, Letizia; Pisanti, Maria Antonietta; Plomp, Astrid S; Price, Sue; Salter, Claire; Santos-Simarro, Fernando; Sarda, Pierre; Segovia, Mabel; Shaw-Smith, Charles; Smithson, Sarah; Suri, Mohnish; Valdez, Rita Maria; Van Haeringen, Arie; Van Hagen, Johanna M; Zollino, Marcela; Lapunzina, Pablo; Thakker, Rajesh V; Zenker, Martin; Hennekam, Raoul C

2018-06-13

Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with a molecularly confirmed diagnosis through an international collaboration and compared data to the 35 previously reported individuals. Results indicate that height is > 2 SDS in infancy and childhood but in only half of affected adults. Cardinal facial characteristics include long, triangular face, macrocephaly, prominent forehead, everted lower lip, and prominent chin. Intellectual disability is universally present, behaviorally anxiety is characteristic. Malan syndrome is caused by deletions or point mutations of NFIX clustered mostly in exon 2. There is no genotype-phenotype correlation except for an increased risk for epilepsy with 19p13.2 microdeletions. Variants arose de novo, except in one family in which mother was mosaic. Variants causing Malan and Marshall-Smith syndrome can be discerned by differences in the site of stop codon formation. We conclude that Malan syndrome has a well recognizable phenotype that usually can be discerned easily from Marshall-Smith syndrome but rarely there is some overlap. Differentiation from Sotos and Weaver syndrome can be made by clinical evaluation only. © 2018 The Authors. Human Mutation published by Wiley Periodicals, Inc.

The role of clinical toxicologists and poison control centers in public health.

PubMed

Sutter, Mark E; Bronstein, Alvin C; Heard, Stuart E; Barthold, Claudia L; Lando, James; Lewis, Lauren S; Schier, Joshua G

2010-06-01

Poison control centers and clinical toxicologists serve many roles within public health; however, the degree to which these entities collaborate is unknown. The objective of this survey was to identify successful collaborations of public health agencies with clinical toxicologists and poison control centers. Four areas including outbreak identification, syndromic surveillance, terrorism preparedness, and daily public health responsibilities amenable to poison control center resources were assessed. An online survey was sent to the directors of poison control centers, state epidemiologists, and the most senior public health official in each state and selected major metropolitan areas. This survey focused on three areas: service, structure within the local or state public health system, and remuneration. Questions regarding remuneration and poison control center location within the public health structure were asked to assess if these were critical factors of successful collaborations. Senior state and local public health officials were excluded because of a low response rate. The survey was completed in October 2007. A total of 111 respondents, 61 poison control centers and 50 state epidemiologists, were eligible for the survey. Sixty-nine (62%) of the 111 respondents, completed and returned the survey. Thirty-three (54%) of the 61 poison control centers responded, and 36 of the 50 state epidemiologists (72%) responded. The most frequent collaborations were terrorism preparedness and epidemic illness reporting. Additional collaborations also exist. Important collaborations exist outside of remuneration or poison control centers being a formal part of the public health structure. Poison control centers have expanded their efforts to include outbreak identification, syndromic surveillance, terrorism preparedness, and daily public health responsibilities amenable to poison control center resources. Collaboration in these areas and others should be expanded. Published by Elsevier Inc.

Guillain-Barré syndrome and adjuvanted pandemic influenza A (H1N1) 2009 vaccine: multinational case-control study in Europe

PubMed Central

Dieleman, Jeanne; Romio, Silvana; Johansen, Kari; Weibel, Daniel; Bonhoeffer, Jan

2011-01-01

Objective To assess the association between pandemic influenza A (H1N1) 2009 vaccine and Guillain-Barré syndrome. Design Case-control study. Setting Five European countries. Participants 104 patients with Guillain-Barré syndrome and its variant Miller-Fisher syndrome matched to one or more controls. Case status was classified according to the Brighton Collaboration definition. Controls were matched to cases on age, sex, index date, and country. Main outcome measures Relative risk estimate for Guillain-Barré syndrome after pandemic influenza vaccine. Results Case recruitment and vaccine coverage varied considerably between countries; the most common vaccines used were adjuvanted (Pandemrix and Focetria). The unadjusted pooled risk estimate for all countries was 2.8 (95% confidence interval 1.3 to 6.0). After adjustment for influenza-like illness/upper respiratory tract infection and seasonal influenza vaccination, receipt of pandemic influenza vaccine was not associated with an increased risk of Guillain-Barré syndrome (adjusted odds ratio 1.0, 0.3 to 2.7). The 95% confidence interval shows that the absolute effect of vaccination could range from one avoided case of Guillain-Barré syndrome up to three excess cases within six weeks after vaccination in one million people. Conclusions The risk of occurrence of Guillain-Barré syndrome is not increased after pandemic influenza vaccine, although the upper limit does not exclude a potential increase in risk up to 2.7-fold or three excess cases per one million vaccinated people. When assessing the association between pandemic influenza vaccines and Guillain-Barré syndrome it is important to account for the effects of influenza-like illness/upper respiratory tract infection, seasonal influenza vaccination, and calendar time. PMID:21750072

The association between blood lipid and phlegm turbidity syndrome of angina pectoris: a systematic review and meta-analysis.

PubMed

Kong, Dezhao; Wang, Yang; Liu, Yue; Zhang, Zhe; Liu, Guanghui; Qi, Wencheng; Xiao, Lei; Yuan, Dongchao; Yang, Guanlin

2014-08-01

A series of case-control studies have been conducted to investigate the association between blood lipid and phlegm turbidity syndrome of angina pectoris, but produced inconsistent results. We performed a meta-analysis to determine the association between blood lipid and phlegm turbidity syndrome of angina pectoris more precisely. Manual screening as well as screening of the China National Knowledge Infrastructure (CNKI), Chinese Journal full-text database (VIP), Wanfang database (WF), ScienceDirect, Pubmed, the Cochrane Library, and Embase were carried out for relevant literature. The formula was translated to calculate the pooled mean value and standard deviation value. The "Newcastle-Ottawa Quality Assessment Scale: Case-Control Studies" (NOS) was taken to assess the quality of the included studies. The Revman 5.2.6 software provided by "The Cochrane Collaboration" was used to analyze the collected data. The subgroup analysis was established according to the sample size proportion between the test group and the control group. Sensitivity analysis was constructed by using two different effect models. Besides, a funnel plot was created to analyze potential publication bias. No statistically meaningful difference existed between the test group and control group of total cholesterol (TC) and low-density lipoprotein-cholesterol (LDL-C) in non-Qi and yin deficiency syndrome (QYDS) and non-Yang deficiency syndrome (YDS) subgroup, whereas the two biotic indicators in the test group were higher than the non-phlegm syndrome group in other subgroups. Triglyceride (TG) in phlegm syndrome group showed superior to non-phlegm syndrome group in the rest subgroups except for the non-CCS (Cold coagulating syndrome)-non-YDS subgroup. High-density lipoprotein-cholesterol (HDL-C) levels of the phlegm group were lower than that of the non-phlegm group in all subgroups. When comparing with Traditional Chinese Medicine (TCM) syndromes of asthenia nature, such as YDS, QYDS, and heart qi deficiency syndrome), the levels of TG, TC, and LDL-C were higher in phlegm turbidity syndrome. However, for sthenia syndromes such as Qi stagnation syndrome (QSS), heart blood stasis syndrome (HBSS), and CCS, there was no obvious difference. Furthermore, HDL-C levels in the phlegm turbidity group were lower than those of the non-phlegm group. Nevertheless, these results should be confirmed with further studies. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

Longitudinal determinants of energy levels in knowledge workers.

PubMed

Arnetz, Bengt B; Broadbridge, Carissa L; Ghosh, Samiran

2014-01-01

Increasingly, workers in the service, welfare, and health care sectors suffer adverse effects (ie, depression, burnout, etc) of "low-energy syndromes." Less is known about energy-based outcomes among knowledge workers. This study aimed to identify determinants of self-rated energy in knowledge workers and examine how these determinants change over time. In collaboration with a large union and employer federation, 317 knowledge workers in Sweden responded to the health and productivity survey three times. At each assessment, worry, satisfaction with eating habits, and work-effectiveness were predictive of energy levels; however, only work-effectiveness covaried with energy over time. This study suggests that perceived work-effectiveness is an important factor in preventing knowledge workers from experiencing "low-energy syndromes." Lifestyle factors also play a role. Therefore, multifaceted interventions for increasing energy are needed.

Parenting Stress in CHARGE Syndrome and the Relationship with Child Characteristics.

PubMed

Wulffaert, Josette; Scholte, Evert M; Dijkxhoorn, Yvette M; Bergman, Jorieke E H; van Ravenswaaij-Arts, Conny M A; van Berckelaer-Onnes, Ina A

2009-08-01

This study investigates the parental perception of stress related to the upbringing of children with CHARGE syndrome and its association with behavioral and physical child characteristics. Parents of 22 children completed the Nijmegen Parenting Stress Index-Short, Developmental Behavior Checklist, and Dutch Vineland Screener 0-12 and reported their child's problems with hearing, vision and ability to speak. Parenting stress was high in 59% of the subjects. Behavioral problems on the depression, autism, self-absorbed and disruptive behavior scales correlated positively with parenting stress. A non-significant trend was found, namely higher stress among the parents of non-speaking children. No associations were found with other child characteristics, i.e. level of adaptive functioning and intellectual disability, auditory and visual problems, deafblindness, gender, and age. Raising a child with CHARGE syndrome is stressful; professional support is therefore essential for this population. More research into other possible influencing characteristics is needed to improve family-oriented interventions. Since CHARGE is a rare syndrome, closer international collaboration is needed, not only to expand the group of study subjects to increase statistical power, but also to harmonize research designs and measurement methods to improve the validity, the reliability, and the generalization of the findings.

Signs and genetics of rare cancer syndromes with gastroenterological features

PubMed Central

Bruno, William; Fornarini, Giuseppe; Ghiorzo, Paola

2015-01-01

Although the genetic bases of most hereditary cancer syndromes are known, and genetic tests are available for them, the incidence of the most rare of these syndromes is likely underestimated, partially because the clinical expression is neither fully understood nor easily diagnosed due to the variable and complex expressivity. The clinical features of a small pool of rare cancer syndromes include gastroenterological signs, though not necessarily tumors, that could require the intervention of a gastroenterologist during any of the phases of the clinical management. Herein we will attempt to spread the knowledge on these rare syndromes by summarizing the phenotype and genetic basis, and revising the peculiar gastroenterological signs whose underlying role in these rare hereditary cancer syndromes is often neglected. Close collaboration between geneticists and gastroenterologists could facilitate both the early identification of patients or relatives at-risk and the planning of multidisciplinary and tailored management of these subjects. PMID:26290627

Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.

PubMed

Calcagni, Giulio; Limongelli, Giuseppe; D'Ambrosio, Angelo; Gesualdo, Francesco; Digilio, Maria Cristina; Baban, Anwar; Albanese, Sonia B; Versacci, Paolo; De Luca, Enrica; Ferrero, Giovanni B; Baldassarre, Giuseppina; Agnoletti, Gabriella; Banaudi, Elena; Marek, Jan; Kaski, Juan P; Tuo, Giulia; Russo, Maria Giovanna; Pacileo, Giuseppe; Milanesi, Ornella; Messina, Daniela; Marasini, Maurizio; Cairello, Francesca; Formigari, Roberto; Brighenti, Maurizio; Dallapiccola, Bruno; Tartaglia, Marco; Marino, Bruno

2018-02-01

A comprehensive description of morbidity and mortality in patients affected by mutations in genes encoding for signal transducers of the RAS-MAPK cascade (RASopathies) was performed in our study recently published in the International Journal of Cardiology. Seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET), collaborated in this multicentric, observational, retrospective data analysis and collection. In this study, clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed. Cardiac defects, crude mortality, survival rate of patients with 1) hypertrophic cardiomyopathy (HCM) and age <2 years or young adults; 2) individuals with Noonan syndrome and pulmonary stenosis carrying PTPN11 mutations; 3) biventricular obstruction and PTPN11 mutations; 4) Costello syndrome or cardiofaciocutaneous syndrome were analysed. Mortality was described as crude mortality, cumulative survival and restricted estimated mean survival. In particular, with this Data In Brief (DIB) paper, the authors aim to report specific statistic highlights of the multivariable regression analysis that was used to assess the impact of mutated genes on number of interventions and overall prognosis.

Supporting Patient-Provider Collaboration to Identify Individual Triggers using Food and Symptom Journals

PubMed Central

Schroeder, Jessica; Hoffswell, Jane; Chung, Chia-Fang; Fogarty, James; Munson, Sean; Zia, Jasmine

2017-01-01

Patient-generated data can allow patients and providers to collaboratively develop accurate diagnoses and actionable treatment plans. Unfortunately, patients and providers often lack effective support to make use of such data. We examine patient-provider collaboration to interpret patient-generated data. We focus on irritable bowel syndrome (IBS), a chronic illness in which particular foods can exacerbate symptoms. IBS management often requires patient-provider collaboration using a patient’s food and symptom journal to identify the patient’s triggers. We contribute interactive visualizations to support exploration of such journals, as well as an examination of patient-provider collaboration in interpreting the journals. Drawing upon individual and collaborative interviews with patients and providers, we find that collaborative review helps improve data comprehension and build mutual trust. We also find a desire to use tools like our interactive visualizations within and beyond clinic appointments. We discuss these findings and present guidance for the design of future tools. PMID:28516172

Antithrombotic Therapy in Patients with Acute Coronary Syndrome in the Intermountain Heart Collaborative Study

PubMed Central

Klaskala, Winslow; Woller, Scott C.; Horne, Benjamin D.; Bunch, T. Jared; Le, Viet T.; Mills, Roger M.; Muhlestein, Joseph B.

2015-01-01

Objective. To determine factors associated with single antiplatelet (SAP) or dual antiplatelet (DAP) therapy and anticoagulants (AC) use in hospital and after discharge among patients with acute coronary syndrome (ACS). Methods. We evaluated 5,294 ACS patients in the Intermountain Heart Collaborative Study from 2004 to 2009. Multivariable logistic regressions were used to determine predictors of AC or AP use. Results. In hospital, 99% received an AC, 79% DAP, and 19% SAP; 78% had DAP + AC. Coronary stents were the strongest predictors of DAP use in hospital compared to SAP (P < 0.001). After discharge, 77% received DAP, 20% SAP, and 9% AC; 5% had DAP + AC. DAP compared to SAP was less likely for patients on AC (odds ratio [OR] = 0.30, P < 0.0001) after discharge. Placement of a stent increased the likelihood of DAP (bare metal: OR = 54.8, P < 0.0001; drug eluting: OR = 59.4, P < 0.0001). 923 had atrial fibrillation and 337 had a history of venous thromboembolism; these patients had increased use of AC (29% and 40%, resp.). Conclusion. While in-hospital use of AC was nearly universal, postdischarge AC use was rare. Concern for providing the best antithrombotic therapy, while maintaining an acceptable bleeding risk, may explain the selection decisions. PMID:25632367

Factors influencing practice variation in the management of nephrotic syndrome: a qualitative study of pediatric nephrology care providers

PubMed Central

Samuel, Susan M.; Flynn, Rachel; Zappitelli, Michael; Dart, Allison; Parekh, Rulan; Pinsk, Maury; Mammen, Cherry; Wade, Andrew; Scott, Shannon D.

2017-01-01

Background: Treatment protocols for childhood nephrotic syndrome are highly variable between providers and care centres. We conducted a qualitative study to understand the complex multilevel processes that lead to practice variation and influence provider management of nephrotic syndrome. Methods: Focus groups with multidisciplinary pediatric nephrology care providers (n = 67) from 10 Canadian pediatric nephrology centres that had more than 1 pediatric nephrologist were conducted between September 2013 and April 2015. Focus group discussions were guided by the Ottawa Model for Research Use. We used a semistructured interview guide to elicit participants' perspectives regarding 1) the work setting and context of the clinical environment, 2) reasons for variation at the provider level and 3) clinical practice guidelines for nephrotic syndrome. Focus group discussions were transcribed and analyzed concurrently with the use of qualitative content analysis. Results: Emerging themes were grouped into 2 categories: centre-level factors and provider-level factors. At the centre level, the type of care model used, clinic structures and resources, and lack of communication and collaboration within and between Canadian centres influenced care variation. At the provider level, use of experiential knowledge versus empirical knowledge and interpretation of patient characteristics influenced provider management of nephrotic syndrome. Interpretation: Centre- and provider-level factors play an important role in shaping practice differences in the management of childhood nephrotic syndrome. Further research is needed to determine whether variation in care is associated with disparities in outcomes. PMID:28592406

Dutch Multidisciplinary Guideline for Invasive Treatment of Pain Syndromes of the Lumbosacral Spine.

PubMed

Itz, Coen J; Willems, Paul C; Zeilstra, Dick J; Huygen, Frank J

2016-01-01

When conservative therapies such as pain medication or exercise therapy fail, invasive treatment may be indicated for patients with lumbosacral spinal pain. The Dutch Society of Anesthesiologists, in collaboration with the Dutch Orthopedic Association and the Dutch Neurosurgical Society, has taken the initiative to develop the guideline "Spinal low back pain," which describes the evidence regarding diagnostics and invasive treatment of the most common spinal low back pain syndromes, that is, facet joint pain, sacroiliac joint pain, coccygodynia, pain originating from the intervertebral disk, and failed back surgery syndrome. The aim of the guideline is to determine which invasive treatment intervention is preferred for each included pain syndrome when conservative treatment has failed. Diagnostic studies were evaluated using the EBRO criteria, and studies on therapies were evaluated with the Grading of Recommendations Assessment, Development and Evaluation system. For the evaluation of invasive treatment options, the guideline committee decided that the outcome measures of pain, function, and quality of life were most important. The definition, epidemiology, pathophysiological mechanism, diagnostics, and recommendations for invasive therapy for each of the spinal back pain syndromes are reported. The guideline committee concluded that the categorization of low back pain into merely specific or nonspecific gives insufficient insight into the low back pain problem and does not adequately reflect which therapy is effective for the underlying disorder of a pain syndrome. Based on the guideline "Spinal low back pain," facet joint pain, pain of the sacroiliac joint, and disk pain will be part of a planned nationwide cost-effectiveness study. © 2015 World Institute of Pain.

Conference Report: International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip and/or Palate (AEC) Syndrome

PubMed Central

Fete, Mary; vanBokhoven, Hans; Clements, Suzanne; McKeon, Frank; Roop, Dennis R.; Koster, Maranke I.; Missero, Caterina; Attardi, Laura D.; Lombillo, Vivian A.; Ratovitski, Edward; Julapalli, Meena; Ruths, Derek; Sybert, Virginia P.; Siegfried, Elaine C.; Bree, Alanna F.

2009-01-01

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) Syndrome (Hay-Wells syndrome, MIM #106220) is a rare autosomal dominant ectodermal dysplasia syndrome. It is due to mutations in the p63 gene, known to be a regulatory gene with many downstream gene targets. TP63 is important in the differentiation and proliferation of the epidermis, as well as many other processes including limb and facial development. It is also known that mutations in p63 lead to skin erosions. These erosions, especially on the scalp, are defining features of AEC syndrome and cause significant morbidity and mortality in these patients. It was this fact that led to the 2003 AEC Skin Erosion Workshop. That conference laid the groundwork for the International Research Symposium for AEC Syndrome held at Texas Children's Hospital in 2006. The conference brought together the largest cohort of individuals with AEC syndrome, along with a multitude of physicians and scientists. The overarching goals were to define the clinical and pathologic findings for improved diagnostic criteria, to obtain tissue samples for further study and to define future research directions. The symposium was successful in accomplishing these aims as detailed in this conference report. Following our report, we also present eleven manuscripts within this special section that outline the collective clinical, pathologic and mutational data from eighteen individuals enrolled in the concurrent Baylor College of Medicine IRB-approved protocol: Characterization of AEC syndrome. These collaborative findings will hopefully provide a stepping stone to future translational projects of p63 and p63-related syndromes. PMID:19353643

Comparison of office visit and nurse advice hotline data for syndromic surveillance--Baltimore-Washington, D.C., metropolitan area, 2002.

PubMed

Henry, Jade Vu; Magruder, S; Snyder, M

2004-09-24

Kaiser Permanente of the Mid-Atlantic States (KPMAS) is collaborating with the Electronic Surveillance System for Early Notification of Community-Based Epidemics II (ESSENCE II) program to understand how managed-care data can be effectively used for syndromic surveillance. This study examined whether KPMAS nurse advice hotline data would be able to predict the syndrome diagnoses made during subsequent KPMAS office visits. All nurse advice hotline calls during 2002 that were linked to an outpatient office visit were identified. By using International Classification of Diseases, Ninth Revision (ICD-9) codes, outpatient visits were categorized into seven ESSENCE II syndrome groups (coma, gastrointestinal, respiratory, neurologic, hemorrhagic, infectious dermatologic, and fever). Nurse advice hotline calls were categorized into ESSENCE II syndrome groups on the basis of the advice guidelines assigned. For each syndrome group, the sensitivity, specificity, and positive predictive value of hotline calls were calculated by using office visits as a diagnostic standard. For matching syndrome call-visit pairs, the lag (i.e., the number of hours that elapsed between the date and time the patient spoke to an advice nurse and the date and time the patient made an office visit) was calculated. Of all syndrome groups, the sensitivity of hotline calls for respiratory syndrome was highest (74.7%), followed by hotline calls for gastrointestinal syndrome (72.0%). The specificity of all nurse advice syndrome groups ranged from 88.9% to 99.9%. The mean lag between hotline calls and office visits ranged from 8.3 to 50 hours, depending on the syndrome group. The timeliness of hotline data capture compared with office visit data capture, as well as the sensitivity and specificity of hotline calls for detecting respiratory and gastrointestinal syndromes, indicate that KPMAS nurse advice hotline data can be used to predict KPMAS syndromic outpatient office visits.

Consensus classification of posterior cortical atrophy

PubMed Central

Crutch, Sebastian J.; Schott, Jonathan M.; Rabinovici, Gil D.; Murray, Melissa; Snowden, Julie S.; van der Flier, Wiesje M.; Dickerson, Bradford C.; Vandenberghe, Rik; Ahmed, Samrah; Bak, Thomas H.; Boeve, Bradley F.; Butler, Christopher; Cappa, Stefano F.; Ceccaldi, Mathieu; de Souza, Leonardo Cruz; Dubois, Bruno; Felician, Olivier; Galasko, Douglas; Graff-Radford, Jonathan; Graff-Radford, Neill R.; Hof, Patrick R.; Krolak-Salmon, Pierre; Lehmann, Manja; Magnin, Eloi; Mendez, Mario F.; Nestor, Peter J.; Onyike, Chiadi U.; Pelak, Victoria S.; Pijnenburg, Yolande; Primativo, Silvia; Rossor, Martin N.; Ryan, Natalie S.; Scheltens, Philip; Shakespeare, Timothy J.; González, Aida Suárez; Tang-Wai, David F.; Yong, Keir X. X.; Carrillo, Maria; Fox, Nick C.

2017-01-01

Introduction A classification framework for posterior cortical atrophy (PCA) is proposed to improve the uniformity of definition of the syndrome in a variety of research settings. Methods Consensus statements about PCA were developed through a detailed literature review, the formation of an international multidisciplinary working party which convened on four occasions, and a Web-based quantitative survey regarding symptom frequency and the conceptualization of PCA. Results A three-level classification framework for PCA is described comprising both syndrome- and disease-level descriptions. Classification level 1 (PCA) defines the core clinical, cognitive, and neuroimaging features and exclusion criteria of the clinico-radiological syndrome. Classification level 2 (PCA-pure, PCA-plus) establishes whether, in addition to the core PCA syndrome, the core features of any other neurodegenerative syndromes are present. Classification level 3 (PCA attributable to AD [PCA-AD], Lewy body disease [PCA-LBD], corticobasal degeneration [PCA-CBD], prion disease [PCA-prion]) provides a more formal determination of the underlying cause of the PCA syndrome, based on available pathophysiological biomarker evidence. The issue of additional syndrome-level descriptors is discussed in relation to the challenges of defining stages of syndrome severity and characterizing phenotypic heterogeneity within the PCA spectrum. Discussion There was strong agreement regarding the definition of the core clinico-radiological syndrome, meaning that the current consensus statement should be regarded as a refinement, development, and extension of previous single-center PCA criteria rather than any wholesale alteration or redescription of the syndrome. The framework and terminology may facilitate the interpretation of research data across studies, be applicable across a broad range of research scenarios (e.g., behavioral interventions, pharmacological trials), and provide a foundation for future collaborative work. PMID:28259709

Consensus classification of posterior cortical atrophy.

PubMed

Crutch, Sebastian J; Schott, Jonathan M; Rabinovici, Gil D; Murray, Melissa; Snowden, Julie S; van der Flier, Wiesje M; Dickerson, Bradford C; Vandenberghe, Rik; Ahmed, Samrah; Bak, Thomas H; Boeve, Bradley F; Butler, Christopher; Cappa, Stefano F; Ceccaldi, Mathieu; de Souza, Leonardo Cruz; Dubois, Bruno; Felician, Olivier; Galasko, Douglas; Graff-Radford, Jonathan; Graff-Radford, Neill R; Hof, Patrick R; Krolak-Salmon, Pierre; Lehmann, Manja; Magnin, Eloi; Mendez, Mario F; Nestor, Peter J; Onyike, Chiadi U; Pelak, Victoria S; Pijnenburg, Yolande; Primativo, Silvia; Rossor, Martin N; Ryan, Natalie S; Scheltens, Philip; Shakespeare, Timothy J; Suárez González, Aida; Tang-Wai, David F; Yong, Keir X X; Carrillo, Maria; Fox, Nick C

2017-08-01

A classification framework for posterior cortical atrophy (PCA) is proposed to improve the uniformity of definition of the syndrome in a variety of research settings. Consensus statements about PCA were developed through a detailed literature review, the formation of an international multidisciplinary working party which convened on four occasions, and a Web-based quantitative survey regarding symptom frequency and the conceptualization of PCA. A three-level classification framework for PCA is described comprising both syndrome- and disease-level descriptions. Classification level 1 (PCA) defines the core clinical, cognitive, and neuroimaging features and exclusion criteria of the clinico-radiological syndrome. Classification level 2 (PCA-pure, PCA-plus) establishes whether, in addition to the core PCA syndrome, the core features of any other neurodegenerative syndromes are present. Classification level 3 (PCA attributable to AD [PCA-AD], Lewy body disease [PCA-LBD], corticobasal degeneration [PCA-CBD], prion disease [PCA-prion]) provides a more formal determination of the underlying cause of the PCA syndrome, based on available pathophysiological biomarker evidence. The issue of additional syndrome-level descriptors is discussed in relation to the challenges of defining stages of syndrome severity and characterizing phenotypic heterogeneity within the PCA spectrum. There was strong agreement regarding the definition of the core clinico-radiological syndrome, meaning that the current consensus statement should be regarded as a refinement, development, and extension of previous single-center PCA criteria rather than any wholesale alteration or redescription of the syndrome. The framework and terminology may facilitate the interpretation of research data across studies, be applicable across a broad range of research scenarios (e.g., behavioral interventions, pharmacological trials), and provide a foundation for future collaborative work. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

Collaborative Academic Research Efforts for Tourette Syndrome Act of 2012

THOMAS, 112th Congress

Sen. Menendez, Robert [D-NJ

2012-04-19

Senate - 04/19/2012 Read twice and referred to the Committee on Health, Education, Labor, and Pensions. (All Actions) Tracker: This bill has the status IntroducedHere are the steps for Status of Legislation:

Collaborative Academic Research Efforts for Tourette Syndrome Act of 2014

THOMAS, 113th Congress

Sen. Menendez, Robert [D-NJ

2014-09-18

Senate - 09/18/2014 Read twice and referred to the Committee on Health, Education, Labor, and Pensions. (All Actions) Tracker: This bill has the status IntroducedHere are the steps for Status of Legislation:

Fragile X-Associated Tremor and Ataxia Syndrome (FXTAS)

MedlinePlus

... Director NIH awards $35 Million for Centers for Collaborative Research in Fragile X Men’s Health is the Focus in ... Safe to Sleep® National Child & Maternal Health Education Program RELATED WEBSITES NIH.gov HHS.gov USA. ...

Collaborative Academic Research Efforts for Tourette Syndrome Act of 2013

THOMAS, 113th Congress

Sen. Menendez, Robert [D-NJ

2013-03-21

Senate - 03/21/2013 Read twice and referred to the Committee on Health, Education, Labor, and Pensions. (All Actions) Tracker: This bill has the status IntroducedHere are the steps for Status of Legislation:

The Frontlines of Medicine Project: a proposal for the standardized communication of emergency department data for public health uses including syndromic surveillance for biological and chemical terrorism.

PubMed

Barthell, Edward N; Cordell, William H; Moorhead, John C; Handler, Jonathan; Feied, Craig; Smith, Mark S; Cochrane, Dennis G; Felton, Christopher W; Collins, Michael A

2002-04-01

The Frontlines of Medicine Project is a collaborative effort of emergency medicine (including emergency medical services and clinical toxicology), public health, emergency government, law enforcement, and informatics. This collaboration proposes to develop a nonproprietary, "open systems" approach for reporting emergency department patient data. The common element is a standard approach to sending messages from individual EDs to regional oversight entities that could then analyze the data received. ED encounter data could be used for various public health initiatives, including syndromic surveillance for chemical and biological terrorism. The interlinking of these regional systems could also permit public health surveillance at a national level based on ED patient encounter data. Advancements in the Internet and Web-based technologies could allow the deployment of these standardized tools in a rapid time frame.

Model and experiences of initiating collaboration with traditional healers in validation of ethnomedicines for HIV/AIDS in Namibia

PubMed Central

Chinsembu, Kazhila C

2009-01-01

Many people with Human Immunodeficiency Virus/Acquired Immunodeficiency Syndrome (HIV/AIDS) in Namibia have access to antiretroviral drugs but some still use traditional medicines to treat opportunistic infections and offset side-effects from antiretroviral medication. Namibia has a rich biodiversity of indigenous plants that could contain novel anti-HIV agents. However, such medicinal plants have not been identified and properly documented. Various ethnomedicines used to treat HIV/AIDS opportunistic infections have not been scientifically validated for safety and efficacy. These limitations are mostly attributable to the lack of collaboration between biomedical scientists and traditional healers. This paper presents a five-step contextual model for initiating collaboration with Namibian traditional healers in order that candidate plants that may contain novel anti-HIV agents are identified, and traditional medicines used to treat HIV/AIDS opportunistic infections are subjected to scientific validation. The model includes key structures and processes used to initiate collaboration with traditional healers in Namibia; namely, the National Biosciences Forum, a steering committee with the University of Namibia (UNAM) as the focal point, a study tour to Zambia and South Africa where other collaborative frameworks were examined, commemorations of the African Traditional Medicine Day (ATMD), and consultations with stakeholders in north-eastern Namibia. Experiences from these structures and processes are discussed. All traditional healers in north-eastern Namibia were willing to collaborate with UNAM in order that their traditional medicines could be subjected to scientific validation. The current study provides a framework for future collaboration with traditional healers and the selection of candidate anti-HIV medicinal plants and ethnomedicines for scientific testing in Namibia. PMID:19852791

Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome

PubMed Central

Schneider, Maude; Debbané, Martin; Bassett, Anne S.; Chow, Eva W.C.; Fung, Wai Lun Alan; van den Bree, Marianne B.M.; Owen, Michael; Murphy, Kieran C.; Niarchou, Maria; Kates, Wendy R.; Antshel, Kevin M.; Fremont, Wanda; McDonald-McGinn, Donna M.; Gur, Raquel E.; Zackai, Elaine H.; Vorstman, Jacob; Duijff, Sasja N.; Klaassen, Petra W.J.; Swillen, Ann; Gothelf, Doron; Green, Tamar; Weizman, Abraham; Van Amelsvoort, Therese; Evers, Laurens; Boot, Erik; Shashi, Vandana; Hooper, Stephen R.; Bearden, Carrie E.; Jalbrzikowski, Maria; Armando, Marco; Vicari, Stefano; Murphy, Declan G.; Ousley, Opal; Campbell, Linda E.; Simon, Tony J.; Eliez, Stephan

2014-01-01

Objective Chromosome 22q11.2 deletion syndrome is a neurogenetic disorder associated with high rates of schizophrenia and other psychiatric conditions. The authors report what is to their knowledge the first large-scale collaborative study of rates and sex distributions of psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome. The associations among psychopathology, intellect, and functioning were examined in a subgroup of participants. Method The 1,402 participants with 22q11.2 deletion syndrome, ages 6–68 years, were assessed for psychiatric disorders with validated diagnostic instruments. Data on intelligence and adaptive functioning were available for 183 participants ages 6 to 24 years. Results Attention deficit hyperactivity disorder (ADHD) was the most frequent disorder in children (37.10%) and was overrepresented in males. Anxiety disorders were more prevalent than mood disorders at all ages, but especially in children and adolescents. Anxiety and unipolar mood disorders were overrepresented in females. Psychotic disorders were present in 41% of adults over age 25. Males did not predominate in psychotic or autism spectrum disorders. Hierarchical regressions in the subgroup revealed that daily living skills were predicted by the presence of anxiety disorders. Psychopathology was not associated with communication or socialization skills. Conclusions To the authors' knowledge, this is the largest study of psychiatric morbidity in 22q11.2 deletion syndrome. It validates previous findings that this condition is one of the strongest risk factors for psychosis. Anxiety and developmental disorders were also prevalent. These results highlight the need to monitor and reduce the long-term burden of psychopathology in 22q11.2 deletion syndrome. PMID:24577245

Pregnancy as an early stress test for cardiovascular and kidney disease diagnosis.

PubMed

Facca, Thaís Alquezar; Mastroianni-Kirsztajn, Gianna; Sabino, Amélia Rodrigues Pereira; Passos, Michelle Tiveron; Dos Santos, Larissa Fátima; Famá, Eduardo Augusto Brosco; Nishida, Sonia Kiyomi; Sass, Nelson

2017-11-23

Pregnancy is a cardiometabolic and renal stress test for women, primarily when associated with hypertension syndrome, which can have deleterious effects in the long term. We undertook this study to make a long-term evaluation on these women. A retrospective cohort study was conducted to investigate voluntary women who had pregnancy-induced hypertension syndrome versus normal pregnancy. We evaluated a total of 85 women, divided in case (n = 25) and control (n = 60) groups, by clinical, anthropometric and epidemiological profiles, general, metabolic and renal tests, and risk stratification for cardiovascular disease (CVD) and chronic kidney disease (CKD). The case group showed a higher incidence of hypertension (P = .003), shorter period between its diagnosis and end of pregnancy (P < .001) and lower age at diagnosis (P = .033); higher weight (P < .001), body mass index (BMI) (P < .001), waist-to-height ratio (p = .001) and abdominal circumference (P < .001); higher fat percentage (P = .004) and weight to lose (P < .001) as measured by bioimpedance; lower estimate glomerular filtration rate (eGFR) by the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equation (P = .021), greater difference between estimated vascular age and real age (P = .008) according to Framingham Risk Score (2008) and higher frequency of metabolic syndrome (P < .001). Women who had pregnancy-induced hypertension syndrome were found with a higher incidence of obesity, metabolic syndrome and hypertension, earlier onset of hypertension, higher estimated vascular age and lower eGFR. These findings reinforce the importance of investigating the history of hypertension syndrome in pregnancy, which should be considered an indicator to be followed long term after childbirth. Copyright © 2017 International Society for the Study of Hypertension in Pregnancy. Published by Elsevier B.V. All rights reserved.

Space flight-associated neuro-ocular syndrome (SANS).

PubMed

Lee, Andrew G; Mader, Thomas H; Gibson, C Robert; Brunstetter, Tyson J; Tarver, William J

2018-03-12

Interesting novel and somewhat perplexing physiologic and pathologic neuro-ocular findings have been documented in astronauts during and after long duration space flight (LDSF). These findings collectively have been termed the "space flight-associated neuro-ocular syndrome" (SANS). The National Aeronautics and Space Administration (NASA) in the United States has meticulously and prospectively documented the clinical, ultrasound, optical coherence tomography imaging, and radiographic findings of SANS including unilateral and bilateral optic disc edema, globe flattening, choroidal and retinal folds, hyperopic refractive error shifts, and nerve fiber layer infarcts (i.e., cotton wool spots). NASA and collaborating researchers continue to study SANS in preparation for future manned missions to space, including continued trips to the ISS, a return to the moon, or perhaps new voyages to the asteroid belt, or the planet, Mars.

The Partnership of Medical Genetics and Oral and Maxillofacial Surgery When Evaluating Craniofacial Anomalies.

PubMed

Lin, Angela E

2015-12-01

A medical geneticist who has an interest in craniofacial anomalies forms a natural partnership with an oral and maxillofacial surgeon, which facilitates patient care. Using complementary diagnostic and therapeutic skills, the search for a recognizable pattern can lead to a syndrome diagnosis. After the initial examination, there is usually genetic testing to confirm the clinical diagnosis. Once established, care coordination and genetic counseling can be provided for the parents and the patient. Enrolling the patient into a research study could be helpful to understand the diagnosis but, in some circumstances, might not have immediate clinical relevance. A multidisciplinary craniofacial team is generally necessary for long-term management. This article discusses illustrative patients evaluated from 2007 through 2011 with the senior oral and maxillofacial surgeon at the Massachusetts General Hospital (Leonard B. Kaban, DMD, MD). These include single patients with the Nablus mask-like facies syndrome and auriculo-condylar syndrome and a series of 20 patients with Gorlin syndrome followed by a multispecialty team. A successful collaboration between a medical geneticist and an oral and maxillofacial surgeon optimizes the treatment of patients with craniofacial anomalies. Copyright © 2015 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

Developing the foundation for syndromic surveillance and health information exchange for yolo county, california.

PubMed

Chaudhary, Osama

2012-01-01

This report delineates Yolo County Health Department's process to ascertain its optimal methods of participation in syndromic surveillance and health information exchange. As a health department serving a county of just 200,000 residents, Yolo County Health Department needed to operate within strict financial constraints. Meaningful Use legislation enabled it to pursue both syndromic surveillance and health information exchange participation whilst complying with its budgetary restrictions. The Health Information Technology for Economic and Clinical Health (HITECH), a segment of the American Recovery and Reinvestment Act of 2009, has incentivized the 'Meaningful Use' of electronic health records (EHRs) by providing incentive reimbursements and non-compliance penalties. The Meaningful Use of EHRs is to take place over 3 Stages: Stage 1 has begun, Stage 2 is imminent, and Stage 3 is currently being discussed. Having been solicited by both health information exchange and syndromic surveillance options which were cost-prohibitive, Yolo County Health Department focused attention on BioSense 2.0, a Meaningul Use-ready and virtually free syndromic surveillance program developed by the Federal Centers for Disease Control and Prevention. In collaboration with Sacramento County Department of Health and Human Services, and with support from several other area counties, Yolo County Health Department submitted a Funding Opportunity application for BioSense 2.0 regional implementation. Through this collaboration, Yolo County Health Department has begun participating in the formative stages of the Sacramento Area Center for Advanced Biosurveillance (SAC-B). Via SAC-B, Yolo County Health Department will be able to participate in syndromic surveillance in the BioSense 2.0 program, and simultaneously expand its electronic health data sharing towards a more comprehensive health information exchange. LASTLY, OVER THE COURSE OF THESE PROJECTS, THREE OTHER METHODS OF PARTICIPATING IN ELECTRONIC HEALTH DATA SHARING BECAME AVAILABLE TO YOLO COUNTY HEALTH DEPARTMENT: all three methods were the direct result of Meaningful Use legislation.

Research and Operational Support for the Study of Militarily Relevant Infectious Diseases of Interest to the United States Army and the Royal Thai Army

DTIC Science & Technology

2008-01-01

funding support for Royal Thai Army at Armed Forces Research Institute of Medical Sciences (AFRIMS) engaged in research activities in collaboration with... Active and Passive Protection of Mice against Japanese Encephalitis Virus 55 (a) Investigators 55 (b) Objectives 55 (c) Methods 55 (d) Results...Research Project: Sentinel Surveillance for Emerging Diseases Causing Dengue-like or Acute Encephalitis Syndrome in the Philippines (SEDP) 83 (a

Scientific research in obstructive sleep apnea syndrome: bibliometric analysis in SCOPUS, 1991-2012.

PubMed

Huamaní, Charles; Rey de Castro, Jorge; González-Alcaide, Gregorio; Polesel, Daniel Ninello; Tufik, Sergio; Andersen, Monica Levy

2015-03-01

The research in obstructive sleep apnea (OSA) may be beneficial from the collaboration between countries and researchers. In this study, we aimed to analyze the scientific research on OSA from 1991 to 2012 and to evaluate the collaboration networks between countries. We conducted a bibliometric study in the SCOPUS database. The systematic search was limited to "articles" published from 1991 to 2012. Articles are results of original research; we evaluated the following criteria: number of countries represented, number of authors, number of citations, and journal names. We determined which countries were the most productive (more articles published) and the number of collaborations between these countries. The probability of citation was evaluated using adjusted odds ratios in a logistic regression analysis. We found a total of 6,896 OSA-related articles that had been published in 1,422 journals, 50 % of these articles were concentrated in 41 journals. Of the 74 different countries associated with these articles, the USA had the highest involvement with 23.8 % of all articles published. The probability of citation increased by 1.23 times for each additional author, and by 2.23 times for each additional country represented; these findings were independent of time since publication, journal, or the country of the author. Scientific production on OSA is increasing with limited international collaboration. The country with the greatest production in this period (1991-2012) was the USA, which concentrated the international collaboration network on OSA. We recommended that articles should be produced with international collaboration to improve the quantity of scientific publications and their chances of publication in high impact journals.

[Syndromic surveillance in circumstances of bioterrorism threat--the essence, application abilities and superiority over a traditional epidemiological surveillance].

PubMed

Osemek, Paweł; Kocik, Janusz; Paśnik, Krzysztof

2009-12-01

This article provides a short review about trends of developing current syndromic surveillance systems. To improve methods of early detection of natural or bioterrorism-related outbreaks, it has to be established a new way of epidemiological thinking, which uses innovative real-time surveillance systems. Syndromic surveillance has been created for an early detection, to monitor the temporo-spatial spread of an outbreak, and to provide prompt data for immediate analysis and feedback to public health authorities. It supports timely decision making process for countermeasure procedures. Framework of syndromic surveillance system requires a proper electronic infrastructure to be build up. Optimal syndrome definitions and data sources for continuing specific diseases outbreak surveillance have not been determined so far. Systems of interest might enhance collaboration among clinical providers, primary care providers, emergency services, information-systems professionals and public health agencies. However economic scope of this undertakings effectively limits ability to implement it in Polish public health service right now. Besides, syndromic surveillance cannot replace traditional public health surveillance with a post-factum epidemiological investigation and laboratory analysis. It can be a useful supplement.

Drug Hypersensitivity: Pharmacogenetics and Clinical Syndromes

PubMed Central

Phillips, Elizabeth J.; Chung, Wen-Hung; Mockenhaupt, Maja; Roujeau, Jean-Claude; Mallal, Simon A.

2011-01-01

Severe cutaneous adverse reactions (SCARs) include syndromes such as drug reaction, eosinophilia and systemic symptoms (DRESS) or drug-induced hypersensitivity syndrome (DIHS) and Stevens-Johnson Syndrome/Toxic epidermal necrolysis (SJS/TEN). An important advance has been the discovery of associations between HLA alleles and many of these syndromes including abacavir hypersensitivity reaction, allopurinol DRESS/DIHS and SJS/TEN and SJS/TEN associated with aromatic amine anticonvulsants. These HLA associations have created the promise for prevention through screening and have additionally shed further light on the immunopathogenesis of SCARs. The roll-out of HLA-B*5701 into routine clinical practice as a genetic screening test to prevent abacavir hypersensitivity provides a translational roadmap for other drugs. Numerous hurdles exist in the widespread translation of several other drugs such as carbamazepine where the positive predictive value of HLA-B*1502 is low and the negative predictive value of HLA-B*1502 for SJS/TEN may not be 100% in all ethnic groups. International collaborative consortia have been formed with the goal of developing phenotype standardization and undertaking HLA and genome-wide analyses in diverse populations with these syndromes. PMID:21354501

Toxic hypoglycemic syndrome--Jamaica, 1989-1991.

PubMed

1992-01-31

In January and February 1991, the health officer in the parish of St. Ann, Jamaica, received reports of eight persons with toxic hypoglycemic syndrome (THS), an illness associated with consumption of unripe ackee fruit and, possibly, renta yam; two cases were fatal. On July 25, the Jamaican Ministry of Health (JMH) contacted CDC for assistance in investigating the continued occurrence of THS; the collaborative JMH and CDC epidemiologic investigation focused on characterizing the epidemiology of THS in Jamaica and assessing the role of ackee fruit, renta yams, and other factors.

[Burning mouth syndrome - a joint biopsychosocial approach].

PubMed

Arpone, Francesca; Combremont, Florian; Weber, Kerstin; Scolozzi, Paolo

2016-02-10

Burning mouth syndrome (BMS) is a medical condition that is often refractory to conventional diagnostic and therapeutic methods. Patients suffering from BMS can benefit from a biopsychosocial approach in a joint, medical-psychological consultation model. Such a consultation exists at Geneva University Hospitals, involving the collaboration of the maxillo-facial and oral surgery division and the division of liaison psychiatry and crisis intervention, in order to take into account the multiple factors involved in BMS onset and persistence. This article will describe BMS clinical presentation, and present an integrate approach to treat these patients.

Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer.

PubMed

Giardiello, Francis M; Allen, John I; Axilbund, Jennifer E; Boland, C Richard; Burke, Carol A; Burt, Randall W; Church, James M; Dominitz, Jason A; Johnson, David A; Kaltenbach, Tonya; Levin, Theodore R; Lieberman, David A; Robertson, Douglas J; Syngal, Sapna; Rex, Douglas K

2014-08-01

The Multi-Society Task Force, in collaboration with invited experts, developed guidelines to assist health care providers with the appropriate provision of genetic testing and management of patients at risk for and affected with Lynch syndrome as follows: Figure 1 provides a colorectal cancer risk assessment tool to screen individuals in the office or endoscopy setting; Figure 2 illustrates a strategy for universal screening for Lynch syndrome by tumor testing of patients diagnosed with colorectal cancer; Figures 3-6 provide algorithms for genetic evaluation of affected and at-risk family members of pedigrees with Lynch syndrome; Table 10 provides guidelines for screening at-risk and affected persons with Lynch syndrome; and Table 12 lists the guidelines for the management of patients with Lynch syndrome. A detailed explanation of Lynch syndrome and the methodology utilized to derive these guidelines, as well as an explanation of, and supporting literature for, these guidelines are provided. Copyright © 2014 American Gastroenterological Association, American College of Gastroenterology, the American Society of Colon and Rectal Surgeons, and the American Society for Gastrointestinal Endoscopy. Published by Elsevier Inc. All rights reserved.

Recent advances in the understanding of severe cutaneous adverse reactions.

PubMed

Adler, N R; Aung, A K; Ergen, E N; Trubiano, J; Goh, M S Y; Phillips, E J

2017-11-01

Severe cutaneous adverse reactions (SCARs) encompass a heterogeneous group of delayed hypersensitivity reactions, which are most frequently caused by drugs. Our understanding of several aspects of SCAR syndromes has evolved considerably over the last decade. This review explores evolving knowledge of the immunopathogenic mechanisms, pharmacogenomic associations, in vivo and ex vivo diagnostics for causality assessment, and medication cross-reactivity data related to SCAR syndromes. Given the rarity and severity of these diseases, multidisciplinary collaboration through large international, national and/or multicentre networks to collect prospective data on patients with SCAR syndromes should be prioritized. This will further enhance a systematized framework for translating epidemiological, clinical and immunopathogenetic advances into preventive efforts and improved outcomes for patients. © 2017 British Association of Dermatologists.

Down syndrome and Alzheimer's disease: Common pathways, common goals

PubMed Central

Hartley, Dean; Blumenthal, Thomas; Carrillo, Maria; DiPaolo, Gilbert; Esralew, Lucille; Gardiner, Katheleen; Granholm, Ann-Charlotte; Iqbal, Khalid; Krams, Michael; Lemere, Cynthia; Lott, Ira; Mobley, William; Ness, Seth; Nixon, Ralph; Potter, Huntington; Reeves, Roger; Sabbagh, Marwan; Silverman, Wayne; Tycko, Benjamin; Whitten, Michelle; Wisniewski, Thomas

2016-01-01

In the United States, estimates indicate there are between 250,000 and 400,000 individuals with Down syndrome (DS), and nearly all will develop Alzheimer's disease (AD) pathology starting in their 30s. With the current lifespan being 55 to 60 years, approximately 70% will develop dementia, and if their life expectancy continues to increase, the number of individuals developing AD will concomitantly increase. Pathogenic and mechanistic links between DS and Alzheimer's prompted the Alzheimer's Association to partner with the Linda Crnic Institute for Down Syndrome and the Global Down Syndrome Foundation at a workshop of AD and DS experts to discuss similarities and differences, challenges, and future directions for this field. The workshop articulated a set of research priorities: (1) target identification and drug development, (2) clinical and pathological staging, (3) cognitive assessment and clinical trials, and (4) partnerships and collaborations with the ultimate goal to deliver effective disease-modifying treatments. PMID:25510383

Diabetes research in Middle East countries; a scientometrics study from 1990 to 2012.

PubMed

Peykari, Niloofar; Djalalinia, Shirin; Kasaeian, Amir; Naderimagham, Shohreh; Hasannia, Tahereh; Larijani, Bagher; Farzadfar, Farshad

2015-03-01

Diabetes burden is a serious warning for urgent action plan across the world. Knowledge production in this context could provide evidences for more efficient interventions. Aimed to that, we quantify the trend of diabetes research outputs of Middle East countries focusing on the scientific publication numbers, citations, and international collaboration. This scientometrics study was performed based on the systematic analysis through three international databases; ISI, PubMed, and Scopus from 1990 to 2012. International collaboration of Middle East countries and citations was analyzed based on Scopus. Diabetes' publications in Iran specifically were assessed, and frequent used terms were mapped by VOSviewer software. Over 23-year period, the number of diabetes publications and related citations in Middle East countries had increasing trend. The number of articles on diabetes in ISI, PubMed, and Scopus were respectively; 13,994, 11,336, and 20,707. Turkey, Israel, Iran, Saudi Arabia, and Egypt have devoted the five top competition positions. In addition, Israel, Turkey, and Iran were leading countries in citation analysis. The most collaborative country with Middle East countries was USA and within the region, the most collaborative country was Saudi Arabia. Iran in all databases stands on third position and produced 12.7% of diabetes publications within region. Regarding diabetes researches, the frequent used terms in Iranian articles were "effect," "woman," and "metabolic syndrome." Ascending trend of diabetes research outputs in Middle East countries is appreciated but encouraging to strategic planning for maintaining this trend, and more collaboration between researchers is needed to regional health promotion.

Cohort Profile: Antiretroviral Therapy Cohort Collaboration (ART-CC)

PubMed Central

May, Margaret T; Ingle, Suzanne M; Costagliola, Dominique; Justice, Amy C; de Wolf, Frank; Cavassini, Matthias; D’Arminio Monforte, Antonella; Casabona, Jordi; Hogg, Robert S; Mocroft, Amanda; Lampe, Fiona C; Dabis, François; Fätkenheuer, Gerd; Sterling, Timothy R; del Amo, Julia; Gill, M John; Crane, Heidi M; Saag, Michael S; Guest, Jodie; Brodt, Hans-Reinhard; Sterne, Jonathan AC

2014-01-01

The advent of effective combination antiretroviral therapy (ART) in 1996 resulted in fewer patients experiencing clinical events, so that some prognostic analyses of individual cohort studies of human immunodeficiency virus-infected individuals had low statistical power. Because of this, the Antiretroviral Therapy Cohort Collaboration (ART-CC) of HIV cohort studies in Europe and North America was established in 2000, with the aim of studying the prognosis for clinical events in acquired immune deficiency syndrome (AIDS) and the mortality of adult patients treated for HIV-1 infection. In 2002, the ART-CC collected data on more than 12,000 patients in 13 cohorts who had begun combination ART between 1995 and 2001. Subsequent updates took place in 2004, 2006, 2008, and 2010. The ART-CC data base now includes data on more than 70 000 patients participating in 19 cohorts who began treatment before the end of 2009. Data are collected on patient demographics (e.g. sex, age, assumed transmission group, race/ethnicity, geographical origin), HIV biomarkers (e.g. CD4 cell count, plasma viral load of HIV-1), ART regimen, dates and types of AIDS events, and dates and causes of death. In recent years, additional data on co-infections such as hepatitis C; risk factors such as smoking, alcohol and drug use; non-HIV biomarkers such as haemoglobin and liver enzymes; and adherence to ART have been collected whenever available. The data remain the property of the contributing cohorts, whose representatives manage the ART-CC via the steering committee of the Collaboration. External collaboration is welcomed. Details of contacts are given on the ART-CC website (www.art-cohort-collaboration.org). PMID:23599235

Cohort profile: Antiretroviral Therapy Cohort Collaboration (ART-CC).

PubMed

May, Margaret T; Ingle, Suzanne M; Costagliola, Dominique; Justice, Amy C; de Wolf, Frank; Cavassini, Matthias; D'Arminio Monforte, Antonella; Casabona, Jordi; Hogg, Robert S; Mocroft, Amanda; Lampe, Fiona C; Dabis, François; Fätkenheuer, Gerd; Sterling, Timothy R; del Amo, Julia; Gill, M John; Crane, Heidi M; Saag, Michael S; Guest, Jodie; Brodt, Hans-Reinhard; Sterne, Jonathan A C

2014-06-01

The advent of effective combination antiretroviral therapy (ART) in 1996 resulted in fewer patients experiencing clinical events, so that some prognostic analyses of individual cohort studies of human immunodeficiency virus-infected individuals had low statistical power. Because of this, the Antiretroviral Therapy Cohort Collaboration (ART-CC) of HIV cohort studies in Europe and North America was established in 2000, with the aim of studying the prognosis for clinical events in acquired immune deficiency syndrome (AIDS) and the mortality of adult patients treated for HIV-1 infection. In 2002, the ART-CC collected data on more than 12,000 patients in 13 cohorts who had begun combination ART between 1995 and 2001. Subsequent updates took place in 2004, 2006, 2008, and 2010. The ART-CC data base now includes data on more than 70,000 patients participating in 19 cohorts who began treatment before the end of 2009. Data are collected on patient demographics (e.g. sex, age, assumed transmission group, race/ethnicity, geographical origin), HIV biomarkers (e.g. CD4 cell count, plasma viral load of HIV-1), ART regimen, dates and types of AIDS events, and dates and causes of death. In recent years, additional data on co-infections such as hepatitis C; risk factors such as smoking, alcohol and drug use; non-HIV biomarkers such as haemoglobin and liver enzymes; and adherence to ART have been collected whenever available. The data remain the property of the contributing cohorts, whose representatives manage the ART-CC via the steering committee of the Collaboration. External collaboration is welcomed. Details of contacts are given on the ART-CC website (www.art-cohort-collaboration.org). Published by Oxford University Press on behalf of the International Epidemiological Association © The Author 2013; all rights reserved.

Stakeholder perspectives on implementing a universal Lynch syndrome screening program: a qualitative study of early barriers and facilitators.

PubMed

Schneider, Jennifer L; Davis, James; Kauffman, Tia L; Reiss, Jacob A; McGinley, Cheryl; Arnold, Kathleen; Zepp, Jamilyn; Gilmore, Marian; Muessig, Kristin R; Syngal, Sapna; Acheson, Louise; Wiesner, Georgia L; Peterson, Susan K; Goddard, Katrina A B

2016-02-01

Evidence-based guidelines recommend that all newly diagnosed colon cancer be screened for Lynch syndrome (LS), but best practices for implementing universal tumor screening have not been extensively studied. We interviewed a range of stakeholders in an integrated health-care system to identify initial factors that might promote or hinder the successful implementation of a universal LS screening program. We conducted interviews with health-plan leaders, managers, and staff. Interviews were audio-recorded and transcribed. Thematic analysis began with a grounded approach and was also guided by the Practical Robust Implementation and Sustainability Model (PRISM). We completed 14 interviews with leaders/managers and staff representing involved clinical and health-plan departments. Although stakeholders supported the concept of universal screening, they identified several internal (organizational) and external (environment) factors that promote or hinder implementation. Facilitating factors included perceived benefits of screening for patients and organization, collaboration between departments, and availability of organizational resources. Barriers were also identified, including: lack of awareness of guidelines, lack of guideline clarity, staffing and program "ownership" concerns, and cost uncertainties. Analysis also revealed nine important infrastructure-type considerations for successful implementation. We found that clinical, laboratory, and administrative departments supported universal tumor screening for LS. Requirements for successful implementation may include interdepartmental collaboration and communication, patient and provider/staff education, and significant infrastructure and resource support related to laboratory processing and systems for electronic ordering and tracking.

75 FR 32792 - Office of Public Health Support; Division of Planning, Evaluation & Research Native American...

Federal Register 2010, 2011, 2012, 2013, 2014

2010-06-09

...-Based Interventions for Tribal Communities Against AIDS and STDs Announcement Type: Competitive... for Tribal Communities Against Acquired Immune Deficiency Syndrome (AIDS) and sexually transmitted... collaboration of academic researchers and AI/AN communities are needed to achieve significant improvements in...

Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders.

PubMed

Santos, Silvana; Kok, Fernando; Weller, Mathias; de Paiva, Francisco Rennan Lopes; Otto, Paulo A

2010-04-01

A new autosomal recessive genetic condition, the SPOAN syndrome (an acronym for spastic paraplegia, optic atrophy and neuropathy syndrome), was recently discovered in an isolated region of the State of Rio Grande do Norte in Northeast Brazil, in a population that was identified by the IBGE (Brazilian Institute of Geography and Statistics) as belonging to the Brazilian communities with the highest rates of "deficiencies" (Neri, 2003), a term used to describe diseases, malformations, and handicaps in general. This prompted us to conduct a study of consanguinity levels in five of its municipal districts by directly interviewing their inhabitants. Information on 7,639 couples (corresponding to about 40% of the whole population of the studied districts) was obtained. The research disclosed the existence of very high frequencies of consanguineous marriages, which varied from about 9% to 32%, suggesting the presence of a direct association between genetic diseases such as the SPOAN syndrome, genetic drift and inbreeding levels. This fact calls for the introduction of educational programs for the local populations, as well as for further studies aiming to identify and characterize other genetic conditions. Epidemiological strategies developed to collect inbreeding data, with the collaboration of health systems available in the region, might be very successful in the prospecting of genetic disorders.

A learning collaborative of CMHCs and CHCs to support integration of behavioral health and general medical care.

PubMed

Vannoy, Steven D; Mauer, Barbara; Kern, John; Girn, Kamaljeet; Ingoglia, Charles; Campbell, Jeannie; Galbreath, Laura; Unützer, Jürgen

2011-07-01

Integration of general medical and mental health services is a growing priority for safety-net providers. The authors describe a project that established a one-year learning collaborative focused on integration of services between community health centers (CHCs) and community mental health centers (CMHCs). Specific targets were treatment for general medical and psychiatric symptoms related to depression, bipolar disorder, alcohol use disorders, and metabolic syndrome. This observational study used mixed methods. Quantitative measures included 15 patient-level health indicators, practice self-assessment of resources and support for chronic disease self-management, and participant satisfaction. Sixteen CHC-CMHC pairs were selected for the learning collaborative series. One pair dropped out because of personnel turnover. All teams increased capacity on one or more patient health indicators. CHCs scored higher than CMHCs on support for chronic disease self-management. Participation in the learning collaborative increased self-assessment scores for CHCs and CMHCs. Participant satisfaction was high. Observations by faculty indicate that quality improvement challenges included tracking patient-level outcomes, workforce issues, and cross-agency communication. Even though numerous systemic barriers were encountered, the findings support existing literature indicating that the learning collaborative is a viable quality improvement approach for enhancing integration of general medical and mental health services between CHCs and CMHCs. Real-world implementation of evidence-based guidelines presents challenges often absent in research. Technical resources and support, a stable workforce with adequate training, and adequate opportunities for collaborator communications are particular challenges for integrating behavioral and general medical services across CHCs and CMHCs.

Is it possible to combine different psychotic symptom scales in bipolar disorder?

PubMed

Fernandez-Garcimartin, Helena; Bagney, Alexandra; Moreno-Ortega, Marta; Dompablo, Monica; Torio, Iosune; Lobo, Antonio; Jimenez-Arriero, Miguel-Angel; Palomo, Tomas; Rodriguez-Jimenez, Roberto

2014-12-30

It has been suggested that data on positive and negative psychotic symptoms in patients with schizophrenia as assessed using different scales may be combined. For the first time, we assessed correlations between the positive syndrome subscale of the Positive and Negative Syndrome Scale (PANSS-P) and the Scale for the Assessment of Positive Symptoms (SAPS), and between the negative syndrome subscale of the Positive and Negative Syndrome Scale (PANSS-N) and the Scale for the Assessment of Negative Symptoms (SANS) in patients with bipolar disorder. We also aimed to confirm these correlations in patients with schizophrenia. This cross-sectional study was conducted with a group of 94 patients (40 diagnosed with bipolar disorder, 54 with schizophrenia). Assessments were carried out using the PANSS, SAPS and SANS. Large significant correlations were found between the PANSS-P and SAPS, and between the PANSS-N and SANS, in both the bipolar disorder group and the schizophrenia group. These results confirm previous findings regarding correlations between these scales in schizophrenia, and support the hypothesis that similar correlations exist in bipolar disorder. Therefore, our data support the potential usefulness in collaborative research of combining results from different scales for the assessment of psychotic symptoms in patients with bipolar disorder.

Electronic Support Groups: An Open Line of Communication in Contested Illness

PubMed Central

Murphy, Michael; Kontos, Nicholas; Freudenreich, Oliver

2017-01-01

Background Patients with functional somatic syndromes are often difficult to treat. The relationship between doctors and patients can be strained, which limits communication. Instead, patients often communicate with each other over the Internet in electronic support groups. Objective This perspective summarizes studies of patient-to-patient communication over the Internet and uses the concept of contested illness to provide insights into the experiences of patients with functional somatic disorders. Discussion Conflict between a patient and their physician is a key feature of functional somatic syndromes. Physicians and patients do not have a shared understanding or appreciation of the patient’s experiences. Patients with functional somatic syndromes often value their own embodied experience over medical knowledge. At the same time, they remain deeply invested in finding a “good doctor” who believes that the patient is suffering, agrees with their conception of the cause, and assents to the treatment as directed by the patient. Electronic support groups reinforce these beliefs. Conclusion Patients may benefit from a compromising, collaborative approach that is realistic about the limitations of medical knowledge. However, physicians should not engage in unsafe treatment practices. Electronic support groups exist for a wide range of illnesses and the issues that rise to the surface in functional somatic syndromes likely occur to some extent with almost every patient. PMID:27421707

Participatory Data Analysis Alongside Co-Researchers Who Have Down Syndrome

ERIC Educational Resources Information Center

Stevenson, Miriam

2014-01-01

Background: There is comparatively little published research that transparently charts the contribution of people with an intellectual disability to a collaborative research process. This paper illustrates the process of data analysis in a project located within the Emancipatory Disability Research (EDR) paradigm. Materials and Methods: Textual…

Introduction to Special Section: Biomedicine and Developmental Psychology: New Areas of Common Ground.

ERIC Educational Resources Information Center

Leavitt, Lewis A.; Goldson, Edward

1996-01-01

Introduces a special section of five articles that highlight new collaborative research opportunities for developmental psychologists and other biomedical researchers. Such research has focused on the transition from fetus to newborn, evaluation of early toxin exposure, and the behavioral phenotype associated with genetic syndromes. (MDM)

SARS Grid--an AG-based disease management and collaborative platform.

PubMed

Hung, Shu-Hui; Hung, Tsung-Chieh; Juang, Jer-Nan

2006-01-01

This paper describes the development of the NCHC's Severe Acute Respiratory Syndrome (SARS) Grid project-An Access Grid (AG)-based disease management and collaborative platform that allowed for SARS patient's medical data to be dynamically shared and discussed between hospitals and doctors using AG's video teleconferencing (VTC) capabilities. During the height of the SARS epidemic in Asia, SARS Grid and the SARShope website significantly curved the spread of SARS by helping doctors manage the in-hospital and in-home care of quarantined SARS patients through medical data exchange and the monitoring of the patient's symptoms. Now that the SARS epidemic has ended, the primary function of the SARS Grid project is that of a web-based informatics tool to increase pubic awareness of SARS and other epidemic diseases. Additionally, the SARS Grid project can be viewed and further studied as an outstanding model of epidemic disease prevention and/or containment.

Primary Immunodeficiencies: “New” Disease in an Old Country

PubMed Central

Lee, Pamela P W; Lau, Yu-Lung

2009-01-01

Primary immunodeficiency disorders (PIDs) are rare inborn errors of the immune system. Patients with PIDs are unique models that exemplify the functional and phenotypic consequences of various immune defects underlying infections, autoimmunity, lymphoproliferation, allergy and cancer. Over 150 PID syndromes were characterized in the past 60 years, with an ever growing list of new entities being discovered. Because of their rarity, multi-center collaboration for pooled data analysis and molecular studies is important to gain meaningful insights into the phenotypic and genetic diversities of PIDs. In this article, we summarize our research findings on PIDs in Chinese population in the past 20 years. Close collaboration among various immunology centers, cross-referrals and systematic data analysis constitute the foundation for research on PIDs. Future directions include establishment of a national PID registry, raising awareness of PIDs and securing sufficient resources for patient care and scientific research. PMID:20003815

The influence of genetic variation on late toxicities in childhood cancer survivors: A review.

PubMed

Clemens, E; van der Kooi, A L F; Broer, L; van Dulmen-den Broeder, E; Visscher, H; Kremer, L; Tissing, W; Loonen, J; Ronckers, C M; Pluijm, S M F; Neggers, S J C M M; Zolk, O; Langer, T; Zehnhoff-Dinnesen, A Am; Wilson, C L; Hudson, M M; Carleton, B; Laven, J S E; Uitterlinden, A G; van den Heuvel-Eibrink, M M

2018-06-01

The variability in late toxicities among childhood cancer survivors (CCS) is only partially explained by treatment and baseline patient characteristics. Inter-individual variability in the association between treatment exposure and risk of late toxicity suggests that genetic variation possibly modifies this association. We reviewed the available literature on genetic susceptibility of late toxicity after childhood cancer treatment related to components of metabolic syndrome, bone mineral density, gonadal impairment and hearing impairment. A systematic literature search was performed, using Embase, Cochrane Library, Google Scholar, MEDLINE, and Web of Science databases. Eligible publications included all English language reports of candidate gene studies and genome wide association studies (GWAS) that aimed to identify genetic risk factors associated with the four late toxicities, defined as toxicity present after end of treatment. Twenty-seven articles were identified, including 26 candidate gene studies: metabolic syndrome (n = 6); BMD (n = 6); gonadal impairment (n = 2); hearing impairment (n = 12) and one GWAS (metabolic syndrome). Eighty percent of the genetic studies on late toxicity after childhood cancer had relatively small sample sizes (n < 200), leading to insufficient power, and lacked adjustment for multiple comparisons. Only four (4/26 = 15%) candidate gene studies had their findings validated in independent replication cohorts as part of their own report. Genetic susceptibility associations are not consistent or not replicated and therefore, currently no evidence-based recommendations can be made for hearing impairment, gonadal impairment, bone mineral density impairment and metabolic syndrome in CCS. To advance knowledge related to genetic variation influencing late toxicities among CCS, future studies need adequate power, independent cohorts for replication, harmonization of disease outcomes and sample collections, and (international) collaboration. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

Promising novel therapy with hydrogen gas for emergency and critical care medicine.

PubMed

Sano, Motoaki; Suzuki, Masaru; Homma, Koichiro; Hayashida, Kei; Tamura, Tomoyoshi; Matsuoka, Tadashi; Katsumata, Yoshinori; Onuki, Shuko; Sasaki, Junichi

2018-04-01

It has been reported that hydrogen gas exerts a therapeutic effect in a wide range of disease conditions, from acute illness such as ischemia-reperfusion injury, shock, and damage healing to chronic illness such as metabolic syndrome, rheumatoid arthritis, and neurodegenerative diseases. Antioxidant and anti-inflammatory properties of hydrogen gas have been proposed, but the molecular target of hydrogen gas has not been identified. We established the Center for Molecular Hydrogen Medicine to promote non-clinical and clinical research on the medical use of hydrogen gas through industry-university collaboration and to obtain regulatory approval of hydrogen gas and hydrogen medical devices (http://www.karc.keio.ac.jp/center/center-55.html). Studies undertaken by the Center have suggested possible therapeutic effects of hydrogen gas in relation to various aspects of emergency and critical care medicine, including acute myocardial infarction, cardiopulmonary arrest syndrome, contrast-induced acute kidney injury, and hemorrhagic shock.

[Obstructive sleep apnea-hypopnea syndrome in children: beyond adenotonsillar hypertrophy].

PubMed

Esteller, Eduard

2015-01-01

The prevalence of obstructive sleep apnea-hypopnea syndrome in the general childhood population is 1-2% and the most common cause is adenotonsillar hypertrophy. However, beyond adenotonsillar hypertrophy, there are other highly prevalent causes of this syndrome in children. The causes are often multifactorial and include muscular hypotonia, dentofacial abnormalities, soft tissue hypertrophy of the airway, and neurological disorders). Collaboration between different specialties involved in the care of these children is essential, given the wide variability of conditions and how frequently different factors are involved in their genesis, as well as the different treatments to be applied. We carried out a wide literature review of other causes of obstructive sleep apnea-hypopnea syndrome in children, beyond adenotonsillar hypertrophy. We organised the prevalence of this syndrome in each pathology and the reasons that cause it, as well as their interactions and management, in a consistent manner. Copyright © 2014 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Patología Cérvico-Facial. All rights reserved.

Diabetes research in Middle East countries; a scientometrics study from 1990 to 2012

PubMed Central

Peykari, Niloofar; Djalalinia, Shirin; Kasaeian, Amir; Naderimagham, Shohreh; Hasannia, Tahereh; Larijani, Bagher; Farzadfar, Farshad

2015-01-01

Background: Diabetes burden is a serious warning for urgent action plan across the world. Knowledge production in this context could provide evidences for more efficient interventions. Aimed to that, we quantify the trend of diabetes research outputs of Middle East countries focusing on the scientific publication numbers, citations, and international collaboration. Materials and Methods: This scientometrics study was performed based on the systematic analysis through three international databases; ISI, PubMed, and Scopus from 1990 to 2012. International collaboration of Middle East countries and citations was analyzed based on Scopus. Diabetes’ publications in Iran specifically were assessed, and frequent used terms were mapped by VOSviewer software. Results: Over 23-year period, the number of diabetes publications and related citations in Middle East countries had increasing trend. The number of articles on diabetes in ISI, PubMed, and Scopus were respectively; 13,994, 11,336, and 20,707. Turkey, Israel, Iran, Saudi Arabia, and Egypt have devoted the five top competition positions. In addition, Israel, Turkey, and Iran were leading countries in citation analysis. The most collaborative country with Middle East countries was USA and within the region, the most collaborative country was Saudi Arabia. Iran in all databases stands on third position and produced 12.7% of diabetes publications within region. Regarding diabetes researches, the frequent used terms in Iranian articles were “effect,” “woman,” and “metabolic syndrome.” Conclusion: Ascending trend of diabetes research outputs in Middle East countries is appreciated but encouraging to strategic planning for maintaining this trend, and more collaboration between researchers is needed to regional health promotion. PMID:26109972

The Collaborative Randomised Amnioinfusion for Meconium Project (CRAMP): 1. South Africa.

PubMed

Hofmeyr, G J; Gülmezoğlu, A M; Buchmann, E; Howarth, G R; Shaw, A; Nikodem, V C; Cronje, H; de Jager, M; Mahomed, K

1998-03-01

To evaluate transcervical amnioinfusion for meconium stained amniotic fluid during labout. Multicentre randomised controlled trial. Four urban academic hospitals in South Africa. Obstetric surveillance included the use of electronic fetal heart rate monitoring in most cases. Women in labour at term with moderate or thick meconium staining of the amniotic fluid. Transcervical amnioinfusion of 800 mL saline at 15 mL per minute, followed by a maintenance infusion at 3 mL per minute. The control group received routine care. Blinding of the intervention was not possible. Caesarean section, meconium aspiration syndrome and perinatal mortality. Caesarean section rates were similar (amnioinfusion group 70/167 vs control group 68/159; RR 0.98, 95% CI 0.76-1.26). The incidence of meconium aspiration syndrome was lower than expected on the basis of previous studies (4/162 vs 6/163; RR 0.67, 95% CI 0.19-2.33). There were no perinatal deaths. There were no significant differences between any of the subsidiary outcomes. This study concurred with three previous trials which found no effect of amnioinfusion for meconium-stained amniotic fluid on caesarean section rate, though the pooled data from all identified trials to date show a significant reduction. The findings with respect to meconium aspiration syndrome were inconclusive in this study alone because of the small number of babies affected, but the point estimate of the relative risk was consistent with the finding of a significant reduction in previous studies and with the Zimbabwe arm (CRAMP 2) of this study. Pooled data clearly support the use of amnioinfusion for meconium stained amniotic fluid to reduce the incidence of meconium aspiration syndrome.

Window of Opportunity for New Disease Surveillance: Developing Keyword Lists for Monitoring Mental Health and Injury Through Syndromic Surveillance.

PubMed

Lauper, Ursula; Chen, Jian-Hua; Lin, Shao

2017-04-01

Studies have documented the impact that hurricanes have on mental health and injury rates before, during, and after the event. Since timely tracking of these disease patterns is crucial to disaster planning, response, and recovery, syndromic surveillance keyword filters were developed by the New York State Department of Health to study the short- and long-term impacts of Hurricane Sandy. Emergency department syndromic surveillance is recognized as a valuable tool for informing public health activities during and immediately following a disaster. Data typically consist of daily visit reports from hospital emergency departments (EDs) of basic patient data and free-text chief complaints. To develop keyword lists, comparisons were made with existing CDC categories and then integrated with lists from the New York City and New Jersey health departments in a collaborative effort. Two comprehensive lists were developed, each containing multiple subcategories and over 100 keywords for both mental health and injury. The data classifiers using these keywords were used to assess impacts of Sandy on mental health and injuries in New York State. The lists will be validated by comparing the ED chief complaint keyword with the final ICD diagnosis code. (Disaster Med Public Health Preparedness. 2017;11:173-178).

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

PubMed

Thompson, Bryony A; Spurdle, Amanda B; Plazzer, John-Paul; Greenblatt, Marc S; Akagi, Kiwamu; Al-Mulla, Fahd; Bapat, Bharati; Bernstein, Inge; Capellá, Gabriel; den Dunnen, Johan T; du Sart, Desiree; Fabre, Aurelie; Farrell, Michael P; Farrington, Susan M; Frayling, Ian M; Frebourg, Thierry; Goldgar, David E; Heinen, Christopher D; Holinski-Feder, Elke; Kohonen-Corish, Maija; Robinson, Kristina Lagerstedt; Leung, Suet Yi; Martins, Alexandra; Moller, Pal; Morak, Monika; Nystrom, Minna; Peltomaki, Paivi; Pineda, Marta; Qi, Ming; Ramesar, Rajkumar; Rasmussen, Lene Juel; Royer-Pokora, Brigitte; Scott, Rodney J; Sijmons, Rolf; Tavtigian, Sean V; Tops, Carli M; Weber, Thomas; Wijnen, Juul; Woods, Michael O; Macrae, Finlay; Genuardi, Maurizio

2014-02-01

The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases.

Application of a five-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants lodged on the InSiGHT locus-specific database

PubMed Central

Plazzer, John-Paul; Greenblatt, Marc S.; Akagi, Kiwamu; Al-Mulla, Fahd; Bapat, Bharati; Bernstein, Inge; Capellá, Gabriel; den Dunnen, Johan T.; du Sart, Desiree; Fabre, Aurelie; Farrell, Michael P.; Farrington, Susan M.; Frayling, Ian M.; Frebourg, Thierry; Goldgar, David E.; Heinen, Christopher D.; Holinski-Feder, Elke; Kohonen-Corish, Maija; Robinson, Kristina Lagerstedt; Leung, Suet Yi; Martins, Alexandra; Moller, Pal; Morak, Monika; Nystrom, Minna; Peltomaki, Paivi; Pineda, Marta; Qi, Ming; Ramesar, Rajkumar; Rasmussen, Lene Juel; Royer-Pokora, Brigitte; Scott, Rodney J.; Sijmons, Rolf; Tavtigian, Sean V.; Tops, Carli M.; Weber, Thomas; Wijnen, Juul; Woods, Michael O.; Macrae, Finlay; Genuardi, Maurizio

2015-01-01

Clinical classification of sequence variants identified in hereditary disease genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch Syndrome genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist variant classification, and recognized by microattribution. The scheme was refined by multidisciplinary expert committee review of clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants not obviously protein-truncating from nomenclature. This large-scale endeavor will facilitate consistent management of suspected Lynch Syndrome families, and demonstrates the value of multidisciplinary collaboration for curation and classification of variants in public locus-specific databases. PMID:24362816

Down syndrome and Alzheimer's disease: Common pathways, common goals.

PubMed

Hartley, Dean; Blumenthal, Thomas; Carrillo, Maria; DiPaolo, Gilbert; Esralew, Lucille; Gardiner, Katheleen; Granholm, Ann-Charlotte; Iqbal, Khalid; Krams, Michael; Lemere, Cynthia; Lott, Ira; Mobley, William; Ness, Seth; Nixon, Ralph; Potter, Huntington; Reeves, Roger; Sabbagh, Marwan; Silverman, Wayne; Tycko, Benjamin; Whitten, Michelle; Wisniewski, Thomas

2015-06-01

In the United States, estimates indicate there are between 250,000 and 400,000 individuals with Down syndrome (DS), and nearly all will develop Alzheimer's disease (AD) pathology starting in their 30s. With the current lifespan being 55 to 60 years, approximately 70% will develop dementia, and if their life expectancy continues to increase, the number of individuals developing AD will concomitantly increase. Pathogenic and mechanistic links between DS and Alzheimer's prompted the Alzheimer's Association to partner with the Linda Crnic Institute for Down Syndrome and the Global Down Syndrome Foundation at a workshop of AD and DS experts to discuss similarities and differences, challenges, and future directions for this field. The workshop articulated a set of research priorities: (1) target identification and drug development, (2) clinical and pathological staging, (3) cognitive assessment and clinical trials, and (4) partnerships and collaborations with the ultimate goal to deliver effective disease-modifying treatments. Copyright © 2015 The Alzheimer's Association. Published by Elsevier Inc. All rights reserved.

Updated Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders

PubMed Central

Kalberg, Wendy O.; Elliott, Amy J.; Blankenship, Jason; Buckley, David; Marais, Anna-Susan; Manning, Melanie A.; Robinson, Luther K.; Adam, Margaret P.; Abdul-Rahman, Omar; Jewett, Tamison; Coles, Claire D.; Chambers, Christina; Jones, Kenneth L.; Adnams, Colleen M.; Shah, Prachi E.; Riley, Edward P.; Charness, Michael E.; Warren, Kenneth R.; May, Philip A.

2016-01-01

The adverse effects of prenatal alcohol exposure constitute a continuum of disabilities (fetal alcohol spectrum disorders [FASD]). In 1996, the Institute of Medicine established diagnostic categories delineating the spectrum but not specifying clinical criteria by which diagnoses could be assigned. In 2005, the authors published practical guidelines operationalizing the Institute of Medicine categories, allowing for standardization of FASD diagnoses in clinical settings. The purpose of the current report is to present updated diagnostic guidelines based on a thorough review of the literature and the authors’ combined expertise based on the evaluation of >10 000 children for potential FASD in clinical settings and in epidemiologic studies in conjunction with National Institute on Alcohol Abuse and Alcoholism–funded studies, the Collaborative Initiative on Fetal Alcohol Spectrum Disorders, and the Collaboration on FASD Prevalence. The guidelines were formulated through conference calls and meetings held at National Institute on Alcohol Abuse and Alcoholism offices in Rockville, MD. Specific areas addressed include the following: precise definition of documented prenatal alcohol exposure; neurobehavioral criteria for diagnosis of fetal alcohol syndrome, partial fetal alcohol syndrome, and alcohol-related neurodevelopmental disorder; revised diagnostic criteria for alcohol-related birth defects; an updated comprehensive research dysmorphology scoring system; and a new lip/philtrum guide for the white population, incorporating a 45-degree view. The guidelines reflect consensus among a large and experienced cadre of FASD investigators in the fields of dysmorphology, epidemiology, neurology, psychology, developmental/behavioral pediatrics, and educational diagnostics. Their improved clarity and specificity will guide clinicians in accurate diagnosis of infants and children prenatally exposed to alcohol. PMID:27464676

Guillain-Barré syndrome following receipt of influenza A (H1N1) 2009 monovalent vaccine in Korea with an emphasis on Brighton Collaboration case definition.

PubMed

Choe, Young June; Cho, Heeyeon; Bae, Geun-Ryang; Lee, Jong-Koo

2011-03-03

In 2009-2010 season, with ongoing of influenza A (H1N1), employment of mass vaccination has generated concerns in issue of adverse events following immunization (AEFI). This study investigates the clinical and laboratory data of reported cases of Guillain-Barré syndrome (GBS) and Fisher syndrome (FS) following receipt of influenza A (H1N1) 2009 monovalent vaccine to the National Vaccine Injury Compensation Program (NVICP) in Korea, with all cases reviewed under case definition developed by Brighton Collaboration GBS Working Group. Retrospective review of medical records for all suspected cases of GBS ad FS following receipt of influenza A (H1N1) monovalent vaccine reported to NVICP from December 1, 2009, through April 28, 2010 was conducted. Additional analyses were performed for identification of levels of diagnostic certainty according to Brighton Collaboration case definition. Of 29 reported cases, 22 were confirmed to meet Brighton criteria level 1, 2, or 3 for GBS (21) or FS (1). Of those, 2 (9.1%) met level 1, 9 (40.9%) met level 2, and 11 (50.0%) met level 3. The male to female ratio was 2:0 in cases with level 1, 8:1 in cases with level 2, and 3:8 in cases with level 3. The mean age was older in cases with level 1 (54.0 ± 26.9) than that of cases with level 2 (25.6 ± 22.8), and level 3 (13.6 ± 2.4, P=0.005). The median onset interval was longer in cases with level 1 (16 days) than that of cases that met level 2 (12.44 days), and 3 (1.09 days, P=0.019). The Brighton case definition was used to improve the quality of AEFI data in Korea, and was applicable in retrospective review of medical records in cases with GBS and FS after influenza A (H1N1) vaccination. These findings suggest that standardized case definition was feasible in clarifying the AEFI data, and to further increase the understanding of possible relationship of influenza vaccine and GBS. Copyright © 2011 Elsevier Ltd. All rights reserved.

Applying a New Model for Sharing Population Health Data to National Syndromic Influenza Surveillance: DiSTRIBuTE Project Proof of Concept, 2006 to 2009.

PubMed

Olson, Donald R; Paladini, Marc; Lober, William B; Buckeridge, David L

2011-08-02

The Distributed Surveillance Taskforce for Real-time Influenza Burden Tracking and Evaluation (DiSTRIBuTE) project began as a pilot effort initiated by the International Society for Disease Surveillance (ISDS) in autumn 2006 to create a collaborative electronic emergency department (ED) syndromic influenza-like illness (ILI) surveillance network based on existing state and local systems and expertise. DiSTRIBuTE brought together health departments that were interested in: 1) sharing aggregate level data; 2) maintaining jurisdictional control; 3) minimizing barriers to participation; and 4) leveraging the flexibility of local systems to create a dynamic and collaborative surveillance network. This approach was in contrast to the prevailing paradigm for surveillance where record level information was collected, stored and analyzed centrally. The DiSTRIBuTE project was created with a distributed design, where individual level data remained local and only summarized, stratified counts were reported centrally, thus minimizing privacy risks. The project was responsive to federal mandates to improve integration of federal, state, and local biosurveillance capabilities. During the proof of concept phase, 2006 to 2009, ten jurisdictions from across North America sent ISDS on a daily to weekly basis year-round, aggregated data by day, stratified by local ILI syndrome, age-group and region. During this period, data from participating U.S. state or local health departments captured over 13% of all ED visits nationwide. The initiative focused on state and local health department trust, expertise, and control. Morbidity trends observed in DiSTRIBuTE were highly correlated with other influenza surveillance measures. With the emergence of novel A/H1N1 influenza in the spring of 2009, the project was used to support information sharing and ad hoc querying at the state and local level. In the fall of 2009, through a broadly collaborative effort, the project was expanded to enhance electronic ED surveillance nationwide.

[Physiotherapy, exercise and strength training and physical therapies in the treatment of fibromyalgia syndrome].

PubMed

Schiltenwolf, M; Häuser, W; Felde, E; Flügge, C; Häfner, R; Settan, M; Offenbächer, M

2008-06-01

A guideline for the treatment and diagnostic procedures for fibromyalgia syndrome (FMS) was developed in cooperation with 10 German medical and psychological associations and 2 patient self-help groups. A systematic literature search including all controlled studies evaluating physiotherapy, exercise and strength training as well as physical therapies was performed in the Cochrane Collaboration Reviews (1993-12/2006), Medline (1980-12/2006), PsychInfo (1966-12/2006) and Scopus (1980-12/ 2006). Levels of evidence were assigned according to the classification system of the Oxford Centre for Evidence-Based Medicine. Grading of the strengths of recommendations was done according to the German program for disease management guidelines. Standardized procedures to reach a consensus on recommendations were used. Aerobic exercise training is strongly recommended (grade A) and the temporary use of whole body hyperthermia, balneotherapy and spa therapy is recommended (grade B). The significance which can be assigned to most of the studies on the various procedures for therapy is restricted due to short study duration (mean 6-12 weeks) and small sample sizes.

Severe morbidity after antiretroviral (ART) initiation: active surveillance in HIV care programs, the IeDEA West Africa collaboration.

PubMed

Abo, Yao; Zannou Djimon, Marcel; Messou, Eugène; Balestre, Eric; Kouakou, Martial; Akakpo, Jocelyn; Ahouada, Carin; de Rekeneire, Nathalie; Dabis, François; Lewden, Charlotte; Minga, Albert

2015-04-09

The causes of severe morbidity in health facilities implementing Antiretroviral Treatment (ART) programmes are poorly documented in sub-Saharan Africa. We aimed to describe severe morbidity among HIV-infected patients after ART initiation, based on data from an active surveillance system established within a network of specialized care facilities in West African cities. Within the International epidemiological Database to Evaluate AIDS (IeDEA)--West Africa collaboration, we conducted a prospective, multicenter data collection that involved two facilities in Abidjan, Côte d'Ivoire and one in Cotonou, Benin. Among HIV-infected adults receiving ART, events were recorded using a standardized form. A simple case-definition of severe morbidity (death, hospitalization, fever>38°5C, Karnofsky index<70%) was used at any patient contact point. Then a physician confirmed and classified the event as WHO stage 3 or 4 according to the WHO clinical classification or as degree 3 or 4 of the ANRS scale. From December 2009 to December 2011, 978 adults (71% women, median age 39 years) presented with 1449 severe events. The main diagnoses were: non-AIDS-defining infections (33%), AIDS-defining illnesses (33%), suspected adverse drug reactions (7%), other illnesses (4%) and syndromic diagnoses (16%). The most common specific diagnoses were: malaria (25%), pneumonia (13%) and tuberculosis (8%). The diagnoses were reported as syndromic in one out of five events recorded during this study. This study highlights the ongoing importance of conventional infectious diseases among severe morbid events occurring in patients on ART in ambulatory HIV care facilities in West Africa. Meanwhile, additional studies are needed due to the undiagnosed aspect of severe morbidity in substantial proportion.

Cannabis Hyperemesis Syndrome in the Emergency Department: How Can a Specialized Addiction Team Be Useful? A Pilot Study.

PubMed

Pélissier, Fanny; Claudet, Isabelle; Gandia-Mailly, Peggy; Benyamina, Amine; Franchitto, Nicolas

2016-11-01

Chronic cannabis users may experience cyclical episodes of nausea and vomiting and learned behavior of hot bathing. This clinical condition, known as cannabis hyperemesis syndrome, was first reported in 2004. Our aim was to promote early recognition of this syndrome in emergency departments (EDs) and to increase referral to addiction specialists. Cannabis abusers were admitted to the ED for vomiting or abdominal pain from June 1, 2014 to January 1, 2015 and diagnosed with cannabis hyperemesis syndrome by a specialized addiction team. Then, medical records were examined retrospectively. Seven young adults were included. Their mean age was 24.7 years (range 17-39 years) and the majority were men (male-to-female ratio 1.2). Biological and toxicological blood samples were taken in all patients. Tetrahydrocannabinol blood level was measured in 4 patients, with a mean blood concentration of 11.6 ng/mL. Radiographic examination including abdominal computed tomography and brain imaging were negative, as was upper endoscopy. Five patients compulsively took hot baths in an attempt to decrease the symptoms. Treatment was symptomatic. Five patients have started follow-up with the specialized addiction team. Cannabis hyperemesis syndrome is still under-diagnosed 10 years after it was first described. Physicians should be aware of this syndrome to avoid repeated hospitalizations or esophageal complications. Greater awareness should lead to prompt treatment and prevention of future recurrence through cannabis cessation. Addiction specialists, as well as medical toxicologists, are experts in the management of cannabis abusers and can help re-establish the role of medical care in this population in collaboration with emergency physicians. Copyright © 2016 Elsevier Inc. All rights reserved.

The impact of parent advocacy groups, the Internet, and social networking on rare diseases: the IDEA League and IDEA League United Kingdom example.

PubMed

Black, Angela P; Baker, Marie

2011-04-01

The development of the Internet and subsequent evolution of social networking has significantly changed the effectiveness of patient advocacy groups for rare diseases. The greatest degree of change has occurred at the patient level, with an increased ability of affected individuals to share experiences and support, and to raise public awareness. Other changes have occurred, not only in the way rare diseases are diagnosed, studied, and treated, but also in how they are addressed at the level of legislation and public policy. The International Dravet syndrome Epilepsy Action League (IDEA League) is the leading patient advocacy organization for Dravet syndrome and related genetic ion-channel epilepsy disorders (hereafter referred to as Dravet syndrome or severe myoclonic epilepsy of infancy, SMEI). The IDEA League's mission encompasses international support and outreach for patients and families, as well as collaboration with physicians, medical education, health care coordination, and research. The IDEA League is an excellent example of the impact of patient advocacy groups, the Internet, and social networking on the landscape of rare diseases. Wiley Periodicals, Inc. © 2011 International League Against Epilepsy.

A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

PubMed

Lange, L; Pagnamenta, A T; Lise, S; Clasper, S; Stewart, H; Akha, E S; Quaghebeur, G; Knight, S J L; Keays, D A; Taylor, J C; Kini, U

2016-09-01

Kabuki syndrome is a heterogeneous condition characterized by distinctive facial features, intellectual disability, growth retardation, skeletal abnormalities and a range of organ malformations. Although at least two major causative genes have been identified, these do not explain all cases. Here we describe a patient with a complex Kabuki-like syndrome that included nodular heterotopia, in whom testing for several single-gene disorders had proved negative. Exome sequencing uncovered a de novo c.931_932insTT variant in HNRNPK (heterogeneous nuclear ribonucleoprotein K). Although this variant was identified in March 2012, its clinical relevance could only be confirmed following the August 2015 publication of two cases with HNRNPK mutations and an overlapping phenotype that included intellectual disability, distinctive facial dysmorphism and skeletal/connective tissue abnormalities. Whilst we had attempted (unsuccessfully) to identify additional cases through existing collaborators, the two published cases were 'matched' using GeneMatcher, a web-based tool for connecting researchers and clinicians working on identical genes. Our report therefore exemplifies the importance of such online tools in clinical genetics research and the benefits of periodically reviewing cases with variants of unproven significance. Our study also suggests that loss of function variants in HNRNPK should be considered as a molecular basis for patients with Kabuki-like syndrome. © 2016 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Electronic Support Groups: An Open Line of Communication in Contested Illness.

PubMed

Murphy, Michael; Kontos, Nicholas; Freudenreich, Oliver

Patients with functional somatic syndromes are often difficult to treat. The relationship between doctors and patients can be strained, which limits communication. Instead, patients often communicate with each other over the Internet in electronic support groups. This perspective summarizes studies of patient-to-patient communication over the Internet and uses the concept of contested illness to provide insights into the experiences of patients with functional somatic disorders. Conflict between a patient and their physician is a key feature of functional somatic syndromes. Physicians and patients do not have a shared understanding or appreciation of the patient's experiences. Patients with functional somatic syndromes often value their own embodied experience over medical knowledge. At the same time, they remain deeply invested in finding a "good doctor" who believes that the patient is suffering, agrees with their conception of the cause, and assents to the treatment as directed by the patient. Electronic support groups reinforce these beliefs. Patients may benefit from a compromising, collaborative approach that is realistic about the limitations of medical knowledge. However, physicians should not engage in unsafe treatment practices. Electronic support groups exist for a wide range of illnesses and the issues that rise to the surface in functional somatic syndromes likely occur to some extent with almost every patient. Copyright © 2016 The Academy of Psychosomatic Medicine. Published by Elsevier Inc. All rights reserved.

Social-emotional instability in individuals with Rett syndrome: parents' experiences with second stage behaviour.

PubMed

Munde, V; Vlaskamp, C; Ter Haar, A

2016-01-01

While the medical profession often terms behaviours in individuals with Rett syndrome (RTT) in the second stage as 'autistic-like', parents disagree with this description. The present study focuses on a comparison of parents' experiences with the social-emotional behaviour of the child with RTT in the second and subsequent stages. In collaboration with the Dutch Rett Syndrome Organization, 51 parents of children with RTT in the Netherlands took part in the present study. Parents completed an online questionnaire to clarify their experiences of the social-emotional behaviour of their children during and after the second stage of RTT. Both quantitative and qualitative analysis techniques have been used. The results of the paired-samples t-test show that parents see significantly less social-emotional behaviour in the children during the second stage of RTT than in the subsequent stages. Parents reported that their children did not seek as much interaction. From the parents' descriptions, it would seem that the children are willing but unable to interact with their environment. Like previous research, our study leads to doubts about the appropriateness of the label 'autistic-like' for the behaviour of individuals in the second stage of RTT. While behaviours of individuals with autism and individuals with RTT may resemble each other, quality and intentions may differ. Still, future studies are needed for further clarification. © 2015 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

[Idiopathic Nephrotic Syndrome: recommendations of the Nephrology Branch of the Chilean Society of Pediatrics. Part two].

PubMed

Hevia, Pilar; Nazal, Vilma; Rosati, María Pía; Quiroz, Lily; Alarcón, Claudia; Márquez, Sonia; Cuevas, Karen

2015-01-01

Idiopathic nephrotic syndrome is the most common glomerular disease in childhood, affecting 1 to 3 per 100,000 children under the age of 16. It most commonly occurs in ages between 2 and 10. Its cause is unknown, and its histology corresponds to minimal change disease in 90% of cases, or focal segmental glomerulosclerosis. Steroid-resistant nephrotic syndrome represents 10-20% of idiopathic nephrotic syndrome in pediatrics. It has a poor prognosis, and its management is a significant therapeutic challenge. Half of patients evolve to end-stage renal disease within 5 years, and are additionally exposed to complications secondary to persistent NS and to the adverse effects of immunosuppressive therapy. The primary goal of treatment is to achieve complete remission, but even a partial remission is associated with a better renal survival than the lack of response. This paper is the result of the collaborative effort of the Nephrology Branch of the Chilean Society of Pediatrics with aims at helping pediatricians and pediatric nephrologists to treat pediatric idiopathic nephrotic syndrome. In this second part, handling of steroid-resistant nephrotic syndrome as well as nonspecific therapies are discussed. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Teaming from Three Perspectives: Interviews with Participatory Action Research Participants

ERIC Educational Resources Information Center

Cain, Judith

2008-01-01

Taking part in the autism spectrum disorder participatory action research (ASD PAR) project was a genuine team effort for the group of people supporting Rose, a primary school student with Asperger syndrome. The following excerpts are from interviews with some of Rose's team. This is a collaborative approach to telling the story of the team's…

Using Participatory Action Research to Develop an HIV and AIDS School Plan

ERIC Educational Resources Information Center

Ferreira, Ronél; Ebersöhn, Liesel; Botha, Karien

2013-01-01

In this article we report on the manner in which participatory action research (PAR) was utilised by teachers in developing a Human Immunodeficiency Virus (HIV) and Acquired Immunodeficiency Syndrome (AIDS) school plan, in collaboration with university researchers. The need for a structured HIV and Aids school plan emerged during the course of a…

International collaboration to assess the risk of Guillain Barré Syndrome following Influenza A (H1N1) 2009 monovalent vaccines.

PubMed

Dodd, Caitlin N; Romio, Silvana A; Black, Steven; Vellozzi, Claudia; Andrews, Nick; Sturkenboom, Miriam; Zuber, Patrick; Hua, Wei; Bonhoeffer, Jan; Buttery, Jim; Crawford, Nigel; Deceuninck, Genevieve; de Vries, Corinne; De Wals, Philippe; Gutierrez-Gimeno, M Victoria; Heijbel, Harald; Hughes, Hayley; Hur, Kwan; Hviid, Anders; Kelman, Jeffrey; Kilpi, Tehri; Chuang, S K; Macartney, Kristine; Rett, Melisa; Lopez-Callada, Vesta Richardson; Salmon, Daniel; Gimenez-Sanchez, Francisco; Sanz, Nuria; Silverman, Barbara; Storsaeter, Jann; Thirugnanam, Umapathi; van der Maas, Nicoline; Yih, Katherine; Zhang, Tao; Izurieta, Hector

2013-09-13

The global spread of the 2009 novel pandemic influenza A (H1N1) virus led to the accelerated production and distribution of monovalent 2009 Influenza A (H1N1) vaccines (pH1N1). This pandemic provided the opportunity to evaluate the risk of Guillain-Barré syndrome (GBS), which has been an influenza vaccine safety concern since the swine flu pandemic of 1976, using a common protocol among high and middle-income countries. The primary objective of this project was to demonstrate the feasibility and utility of global collaboration in the assessment of vaccine safety, including countries both with and without an established infrastructure for vaccine active safety surveillance. A second objective, included a priori, was to assess the risk of GBS following pH1N1 vaccination. The primary analysis used the self-controlled case series (SCCS) design to estimate the relative incidence (RI) of GBS in the 42 days following vaccination with pH1N1 vaccine in a pooled analysis across databases and in analysis using a meta-analytic approach. We found a relative incidence of GBS of 2.42 (95% CI 1.58-3.72) in the 42 days following exposure to pH1N1 vaccine in analysis of pooled data and 2.09 (95% CI 1.28-3.42) using the meta-analytic approach. This study demonstrates that international collaboration to evaluate serious outcomes using a common protocol is feasible. The significance and consistency of our findings support a conclusion of an association between 2009 H1N1 vaccination and GBS. Given the rarity of the event the relative incidence found does not provide evidence in contradiction to international recommendations for the continued use of influenza vaccines. Copyright © 2013 Elsevier Ltd. All rights reserved.

Establishing an emergency department syndromic surveillance system to support the London 2012 Olympic and Paralympic Games.

PubMed

Elliot, Alex J; Hughes, Helen E; Hughes, Thomas C; Locker, Thomas E; Shannon, Tony; Heyworth, John; Wapling, Andy; Catchpole, Mike; Ibbotson, Sue; McCloskey, Brian; Smith, Gillian E

2012-12-01

The London 2012 Olympic and Paralympic Games is a mass gathering event that will present a major public health challenge. The Health Protection Agency, in collaboration with the College of Emergency Medicine, has established the Emergency Department Sentinel Syndromic Surveillance System (EDSSS) to support the public health surveillance requirements of the Games. This feasibility study assesses the usefulness of EDSSS in monitoring indicators of disease in the community. Daily counts of anonymised attendance data from six emergency departments across England were analysed by patient demographics (age, gender, partial postcode), triage coding and diagnosis codes. Generic and specific syndromic indicators were developed using aggregations of diagnosis codes recorded during each attendance. Over 339,000 attendances were recorded (26 July 2010 to 25 July 2011). The highest attendances recorded on weekdays between 10:00 and 11:00 and on weekends between 12:00 and 13:00. The mean daily attendance per emergency department was 257 (range 38-435). Syndromic indicators were developed including: respiratory, gastrointestinal, cardiac, acute respiratory infection, gastroenteritis and myocardial ischaemia. Respiratory and acute respiratory infection indicators peaked during December 2010, concomitant with national influenza activity, as monitored through other influenza surveillance systems. The EDSSS has been established to provide an enhanced surveillance system for the London 2012 Olympics. Further validation of the data will be required; however, the results from this initial descriptive study demonstrate the potential for identifying unusual and/or severe outbreaks of infectious disease, or other incidents with public health impact, within the community.

The Spectrum of Monogenic Autoinflammatory Syndromes: Understanding Disease Mechanisms and Use of Targeted Therapies

PubMed Central

Glaser, Rachel L.; Goldbach-Mansky, Raphaela

2009-01-01

Monogenic autoinflammatory diseases encompass a distinct and growing clinical entity of multisystem inflammatory diseases with known genetic defects in the innate immune system. The diseases present clinically with episodes of seemingly unprovoked inflammation (fever, rashes, and elevation of acute phase reactants). Understanding the genetics has led to discovery of new molecules involved in recognizing exogenous and endogenous danger signals, and the inflammatory response to these stimuli. These advances have furthered understanding of innate inflammatory pathways and spurred collaborative research in rheumatology and infectious diseases. The pivotal roles of interleukin (IL)-1β in cryopyrin-associated periodic syndromes, tumor necrosis factor (TNF) in TNF receptor-associated periodic syndrome, and links to inflammatory cytokine dysregulation in other monogenic autoinflammatory diseases have resulted in effective therapies targeting proinflammatory cytokines IL-1β and TNF and uncovered other new potential targets for anti-inflammatory therapies. PMID:18606080

[Dialysis and ultrafiltration therapy in patients with cardio-renal syndrome: recommendations of the working group "heart-kidney" of the German Cardiac Society and the German Society of Nephrology].

PubMed

Schwenger, V; Remppis, B A; Westenfeld, R; Weinreich, T; Brunkhorst, R; Schieren, G; Krumme, B; Haller, H; Schmieder, R; Schlieper, G; Frye, B; Hoppe, U C; Hoyer, J; Keller, T; Blumenstein, M; Schunkert, H; Mahfoud, F; Rump, L C

2014-02-01

Renal failure is common in patients with severe heart failure. This complex pathophysiological interaction has been classified as cardio-renal syndrome. In these patients hydropic decompensation is the main cause of hospitalization. In patients with refractory heart failure, characterized by diuretic resistance and congestion due to volume overload, ultrafiltration has to be considered. In acute decompensated heart failure with worsening of renal function, extracorporeal ultrafiltration is the preferred treatment modality. On the other hand, patients suffering from chronic decompensated heart failure, particularly patients with ascites, will profit from the treatment specific advantages of peritoneal ultrafiltration. Prerequisite for an optimized care of patients with cardio-renal syndrome is the close collaboration among intensive care doctors, cardiologists and nephrologists. © Georg Thieme Verlag KG Stuttgart · New York.

PRIMARY IMMUNE DEFICIENCY TREATMENT CONSORTIUM (PIDTC) UPDATE

PubMed Central

Griffith, Linda M.; Cowan, Morton J.; Notarangelo, Luigi D.; Kohn, Donald B.; Puck, Jennifer M.; Shearer, William T.; Burroughs, Lauri M.; Torgerson, Troy R.; Decaluwe, Hélène; Haddad, Elie

2016-01-01

The Primary Immune Deficiency Treatment Consortium (PIDTC) is a collaboration of 41 North American centers studying therapy for rare primary immune deficiency diseases (PID) including Severe Combined Immune Deficiency (SCID), Wiskott-Aldrich syndrome (WAS) and chronic granulomatous disease (CGD). An additional 3 European centers have partnered with the PIDTC to study CGD. Natural history protocols of the PIDTC analyze outcomes of treatment for rare PID in multicenter longitudinal retrospective, prospective and cross-sectional studies. Since 2009, participating centers have enrolled over 800 subjects on PIDTC protocols for SCID, and enrollment on the studies in WAS and CGD is underway. Four pilot projects have been funded and 12 junior investigators have received fellowship awards. Important publications of the consortium describe outcomes of hematopoietic cell transplantation (HCT) for SCID during 2000–2009, diagnostic criteria for SCID, and the pilot project of newborn screening (NBS) for SCID in the Navajo Nation. The PIDTC Annual Scientific Workshops provide an opportunity to strengthen collaborations with junior investigators, patient advocacy groups and international colleagues. Funded by the NIAID and ORDR, NCATS, the PIDTC has recently received renewal for another 5 years. Here, we review accomplishments of the group, projects underway, highlights of recent workshops and challenges for the future. PMID:27262745

Collaborative Efforts Driving Progress in Pediatric Acute Myeloid Leukemia

PubMed Central

Zwaan, C. Michel; Kolb, Edward A.; Reinhardt, Dirk; Abrahamsson, Jonas; Adachi, Souichi; Aplenc, Richard; De Bont, Eveline S.J.M.; De Moerloose, Barbara; Dworzak, Michael; Gibson, Brenda E.S.; Hasle, Henrik; Leverger, Guy; Locatelli, Franco; Ragu, Christine; Ribeiro, Raul C.; Rizzari, Carmelo; Rubnitz, Jeffrey E.; Smith, Owen P.; Sung, Lillian; Tomizawa, Daisuke; van den Heuvel-Eibrink, Marry M.; Creutzig, Ursula; Kaspers, Gertjan J.L.

2015-01-01

Diagnosis, treatment, response monitoring, and outcome of pediatric acute myeloid leukemia (AML) have made enormous progress during the past decades. Because AML is a rare type of childhood cancer, with an incidence of approximately seven occurrences per 1 million children annually, national and international collaborative efforts have evolved. This overview describes these efforts and includes a summary of the history and contributions of each of the main collaborative pediatric AML groups worldwide. The focus is on translational and clinical research, which includes past, current, and future clinical trials. Separate sections concern acute promyelocytic leukemia, myeloid leukemia of Down syndrome, and relapsed AML. A plethora of novel antileukemic agents that have emerged, including new classes of drugs, are summarized as well. Finally, an important aspect of the treatment of pediatric AML—supportive care—and late effects are discussed. The future is bright, with a wide range of emerging innovative therapies and with more and more international collaboration that ultimately aim to cure all children with AML, with fewer adverse effects and without late effects. PMID:26304895

Collaborative Efforts Driving Progress in Pediatric Acute Myeloid Leukemia.

PubMed

Zwaan, C Michel; Kolb, Edward A; Reinhardt, Dirk; Abrahamsson, Jonas; Adachi, Souichi; Aplenc, Richard; De Bont, Eveline S J M; De Moerloose, Barbara; Dworzak, Michael; Gibson, Brenda E S; Hasle, Henrik; Leverger, Guy; Locatelli, Franco; Ragu, Christine; Ribeiro, Raul C; Rizzari, Carmelo; Rubnitz, Jeffrey E; Smith, Owen P; Sung, Lillian; Tomizawa, Daisuke; van den Heuvel-Eibrink, Marry M; Creutzig, Ursula; Kaspers, Gertjan J L

2015-09-20

Diagnosis, treatment, response monitoring, and outcome of pediatric acute myeloid leukemia (AML) have made enormous progress during the past decades. Because AML is a rare type of childhood cancer, with an incidence of approximately seven occurrences per 1 million children annually, national and international collaborative efforts have evolved. This overview describes these efforts and includes a summary of the history and contributions of each of the main collaborative pediatric AML groups worldwide. The focus is on translational and clinical research, which includes past, current, and future clinical trials. Separate sections concern acute promyelocytic leukemia, myeloid leukemia of Down syndrome, and relapsed AML. A plethora of novel antileukemic agents that have emerged, including new classes of drugs, are summarized as well. Finally, an important aspect of the treatment of pediatric AML--supportive care--and late effects are discussed. The future is bright, with a wide range of emerging innovative therapies and with more and more international collaboration that ultimately aim to cure all children with AML, with fewer adverse effects and without late effects. © 2015 by American Society of Clinical Oncology.

Antonino D'Antona (1842-1913) was the first in describing the crush syndrome with renal failure following the Messina earthquake of December 28, 1908.

PubMed

Bisaccia, Carmela; De Santo, Natale Gaspare; De Santo, Luca S

2016-02-01

There is confusion about the first description of the association between crush syndrome and renal failure. It has been traditionally attributed to Bywaters and Beall. The present study aims to analyze the problem by analyzing medical reports on the Messina-Reggio Calabria earth-quake of December 28, 1908 by using documents heretofore unknown. It demonstrates that first description of rabdomyolysis with renal failure is attributed to Antonino DAntona (1842- 1913). DAntona, professor of surgery at the University of Naples, coordinated the health net organized in Naples to assist persons wounded during the quake. Many of them in shock were transferred to Naples by ships. Franz von Colmers (1875-1960) was the chief surgeon of the German Mission of the Red Cross after the quake. Because his late arrival, he did not treat patients with shock. He described rabdomyolysis. The third medical report is that of Rocco Caminiti (1868-1946), collaborator of DAntona at the University of Naples, and chief of surgery at the Loreto Hospital. He directed a rescue group in Villa San Giovanni and Reggio Calabria. In 1910, he reported on rabdomyolysis in patients treated in the place of the disaster. Therefore the present study indicates that Antonino DAntona holds the priority for description of rabdomyolysis and kidney injury. There is no longer a place for the eponym Bywaters syndrome.

Improving patient outcomes in fibrous dysplasia/McCune-Albright syndrome: an international multidisciplinary workshop to inform an international partnership.

PubMed

Boyce, A M; Turner, A; Watts, L; Forestier-Zhang, L; Underhill, A; Pinedo-Villanueva, R; Monsell, F; Tessaris, D; Burren, C; Masi, L; Hamdy, N; Brandi, M L; Chapurlat, R; Collins, M T; Javaid, Muhammad Kassim

2017-12-01

To develop consensus on improving the management of patients, we convened an international workshop involving patients, clinicians, and researchers. Key findings included the diagnostic delay and variability in subsequent management with agreement to develop an international natural history study. We now invite other stakeholders to join the partnership. The aim of this study was develop a consensus on how to improve the management of patients with fibrous dysplasia and prioritize areas for research METHODS: An international workshop was held over 3 days involving patients, clinicians, and researchers. Each day had a combination of formal presentations and facilitated discussions that focused on clinical pathways and research. The patient workshop day highlighted the variability of patients' experience in getting a diagnosis, the knowledge of general clinical staff, and understanding long-term outcomes. The research workshop prioritized collaborations that improved understanding of the contemporary natural history of fibrous dysplasia/McCune-Albright syndrome (FD/MAS). The clinical workshop outlined the key issues around diagnostics, assessment of severity, treatment and monitoring of patients. In spite of advances in understanding the genetic and molecular underpinnings of fibrous dysplasia/McCune-Albright syndrome, clinical management remains a challenge. From the workshop, a consensus was reached to create an international, multi-stakeholder partnership to advance research and clinical care in FD/MAS. We invite other stakeholders to join the partnership.

MRI criteria for MS in patients with clinically isolated syndromes.

PubMed

Montalban, X; Tintoré, M; Swanton, J; Barkhof, F; Fazekas, F; Filippi, M; Frederiksen, J; Kappos, L; Palace, J; Polman, C; Rovaris, M; de Stefano, N; Thompson, A; Yousry, T; Rovira, A; Miller, D H

2010-02-02

In recent years, criteria for the diagnosis of multiple sclerosis (MS) have changed, mainly due to the incorporation of new MRI criteria. While the new criteria are a logical step forward, they are complex and-not surprisingly-a good working knowledge of them is not always evident among neurologists and neuroradiologists. In some circumstances, several MRI examinations are needed to achieve an accurate and prompt diagnosis. This provides an incentive for continued efforts to refine the incorporation of MRI-derived information into the diagnostic workup of patients presenting with a clinically isolated syndrome. Within the European multicenter collaborative research network that studies MRI in MS (MAGNIMS), a workshop was held in London in November 2007 to review information that may simplify the existing MS diagnostic criteria, while maintaining a high specificity that is essential to minimize false positive diagnoses. New data that are now published were reviewed and discussed and together with a new proposal are integrated in this position paper.

An Official Critical Care Societies Collaborative Statement: Burnout Syndrome in Critical Care Health Care Professionals: A Call for Action.

PubMed

Moss, Marc; Good, Vicki S; Gozal, David; Kleinpell, Ruth; Sessler, Curtis N

2016-07-01

Burnout syndrome (BOS) occurs in all types of health care professionals and is especially common in individuals who care for critically ill patients. The development of BOS is related to an imbalance of personal characteristics of the employee and work-related issues or other organizational factors. BOS is associated with many deleterious consequences, including increased rates of job turnover, reduced patient satisfaction, and decreased quality of care. BOS also directly affects the mental health and physical well-being of the many critical care physicians, nurses, and other health care professionals who practice worldwide. Until recently, BOS and other psychological disorders in critical care health care professionals remained relatively unrecognized. To raise awareness of BOS, the Critical Care Societies Collaborative (CCSC) developed this call to action. The present article reviews the diagnostic criteria, prevalence, causative factors, and consequences of BOS. It also discusses potential interventions that may be used to prevent and treat BOS. Finally, we urge multiple stakeholders to help mitigate the development of BOS in critical care health care professionals and diminish the harmful consequences of BOS, both for critical care health care professionals and for patients. ©2016 American Association of Critical-Care Nurses.

Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline.

PubMed

Weissman, Scott M; Burt, Randall; Church, James; Erdman, Steve; Hampel, Heather; Holter, Spring; Jasperson, Kory; Kalady, Matt F; Haidle, Joy Larsen; Lynch, Henry T; Palaniappan, Selvi; Wise, Paul E; Senter, Leigha

2012-08-01

Identifying individuals who have Lynch syndrome (LS) involves a complex diagnostic work up that includes taking a detailed family history and a combination of various genetic and immunohistochemical tests. The National Society of Genetic Counselors (NSGC) and the Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA-ICC) have come together to publish this clinical practice testing guideline for the evaluation of LS. The purpose of this practice guideline is to provide guidance and a testing algorithm for LS as well as recommendations on when to offer testing. This guideline does not replace a consultation with a genetics professional. This guideline includes explanations in support of this and a summary of background data. While this guideline is not intended to serve as a review of LS, it includes a discussion of background information on LS, and cites a number of key publications which should be reviewed for a more in-depth understanding of LS. These guidelines are intended for genetic counselors, geneticists, gastroenterologists, surgeons, medical oncologists, obstetricians and gynecologists, nurses and other healthcare providers who evaluate patients for LS.

A Critical Care Societies Collaborative Statement: Burnout Syndrome in Critical Care Health-care Professionals. A Call for Action.

PubMed

Moss, Marc; Good, Vicki S; Gozal, David; Kleinpell, Ruth; Sessler, Curtis N

2016-07-01

Burnout syndrome (BOS) occurs in all types of health-care professionals and is especially common in individuals who care for critically ill patients. The development of BOS is related to an imbalance of personal characteristics of the employee and work-related issues or other organizational factors. BOS is associated with many deleterious consequences, including increased rates of job turnover, reduced patient satisfaction, and decreased quality of care. BOS also directly affects the mental health and physical well-being of the many critical care physicians, nurses, and other health-care professionals who practice worldwide. Until recently, BOS and other psychological disorders in critical care health-care professionals remained relatively unrecognized. To raise awareness of BOS, the Critical Care Societies Collaborative (CCSC) developed this call to action. The present article reviews the diagnostic criteria, prevalence, causative factors, and consequences of BOS. It also discusses potential interventions that may be used to prevent and treat BOS. Finally, we urge multiple stakeholders to help mitigate the development of BOS in critical care health-care professionals and diminish the harmful consequences of BOS, both for critical care health-care professionals and for patients.

Neuropsychiatric Complications of Parkinson Disease Treatments: Importance of Multidisciplinary Care.

PubMed

Taylor, Jacob; Anderson, William S; Brandt, Jason; Mari, Zoltan; Pontone, Gregory M

2016-12-01

Although Parkinson disease (PD) is defined clinically by its motor symptoms, it is increasingly recognized that much of the disability and worsened quality of life experienced by patients with PD is attributable to psychiatric symptoms. The authors describe a model of multidisciplinary care that enables these symptoms to be effectively managed. They describe neuropsychiatric complications of PD itself and pharmacologic and neurostimulation treatments for parkinsonian motor symptoms and discuss the management of these complications. Specifically, they describe the clinical associations between motor fluctuations and anxiety and depressive symptoms, the compulsive overuse of dopaminergic medications prescribed for motor symptoms (the dopamine dysregulation syndrome), and neuropsychiatric complications of these medications, including impulse control disorders, psychosis, and manic syndromes. Optimal management of these problems requires close collaboration across disciplines because of the potential for interactions among the pathophysiologic process of PD, motor symptoms, dopaminergic drugs, and psychiatric symptoms. The authors emphasize how their model of multidisciplinary care facilitates close collaboration among psychiatrists, other mental health professionals, neurologists, and functional neurosurgeons and how this facilitates effective care for patients who develop the specific neuropsychiatric complications discussed. Copyright © 2016 American Association for Geriatric Psychiatry. Published by Elsevier Inc. All rights reserved.

An introduction to parental alienation syndrome.

PubMed

Farkas, Michelle M

2011-04-01

Parental alienation syndrome (PAS) can occur during a tumultuous divorce between embattled parents involved in a bitter child custody dispute. During parental warfare, a child is used as a weapon by one parent (alienating parent) against the other parent (alienated/targeted parent). The targeted parent-child relationship once encased with unconditional love is transformed by an unrelenting campaign of denigration, criticism, and hatred. Since nursing literature on PAS is almost nonexistent, the purpose of this article is to increase nursing awareness and provide basic information. Awareness of PAS symptoms and interpersonal dynamics is important to prompt nurses in recommending treatment for families. Nurses should collaboratively join other professionals in their quest to provide the best treatment possible. Copyright 2011, SLACK Incorporated.

Pain Amplification Syndrome: A Biopsychosocial Approach.

PubMed

Namerow, Lisa B; Kutner, Emily C; Wakefield, Emily C; Rzepski, Barbara R; Sahl, Robert A

2016-08-01

Pediatric neurologists frequently encounter patients who present with significant musculoskeletal pain that cannot be attributed to a specific injury or illness, which can often be defined as pain amplification syndrome (PAS). PAS in children and adolescents is the result of a heightened pain sensitivity pathway, which is intensified by significant biological, psychological, and social contributors. Appropriate assessment and multimodal intervention of PAS are crucial to treatment success, including neurology and behavioral health collaborative treatment plans to restore patient function and reduce pain perception. Pediatric neurologists are imperative in the identification of patients with PAS, providing the family assurance in diagnosis and validation of pain, and directing patients to the appropriate multidisciplinary treatment pathway. Copyright © 2016 Elsevier Inc. All rights reserved.

Adult-onset hair loss in Chesapeake Bay retrievers: a clinical and histological study.

PubMed

Cerundolo, R; Mauldin, E A; Goldschmidt, M H; Beyerlein, S L; Refsal, K R; Oliver, J W

2005-02-01

Ten Chesapeake Bay retriever (CBRS) dogs with hair loss were recruited in collaboration with the American Chesapeake Club. All dogs had nonpruritic, noninflammatory, regionalized hair loss affecting the same areas of the body in male and female dogs. Hormonal investigations showed increased adrenal and sex steroid concentration in seven cases. Histopathology revealed follicular hyperkeratosis and plugging, follicular atrophy, and occasional melanin clumping with malformed hair shafts. This study suggests that hair loss in CBRS is a breed syndrome in which young adult dogs have hair loss characterized by unusual histological features and abnormal steroid production. A familial predisposition seems likely and selective breeding might reduce the occurrence of this condition.

CHERISH (collaboration for hospitalised elders reducing the impact of stays in hospital): protocol for a multi-site improvement program to reduce geriatric syndromes in older inpatients.

PubMed

Mudge, Alison M; Banks, Merrilyn D; Barnett, Adrian G; Blackberry, Irene; Graves, Nicholas; Green, Theresa; Harvey, Gillian; Hubbard, Ruth E; Inouye, Sharon K; Kurrle, Sue; Lim, Kwang; McRae, Prue; Peel, Nancye M; Suna, Jessica; Young, Adrienne M

2017-01-09

Older inpatients are at risk of hospital-associated geriatric syndromes including delirium, functional decline, incontinence, falls and pressure injuries. These contribute to longer hospital stays, loss of independence, and death. Effective interventions to reduce geriatric syndromes remain poorly implemented due to their complexity, and require an organised approach to change care practices and systems. Eat Walk Engage is a complex multi-component intervention with structured implementation, which has shown reduced geriatric syndromes and length of stay in pilot studies at one hospital. This study will test effectiveness of implementing Eat Walk Engage using a multi-site cluster randomised trial to inform transferability of this intervention. A hybrid study design will evaluate the effectiveness and implementation strategy of Eat Walk Engage in a real-world setting. A multisite cluster randomised study will be conducted in 8 medical and surgical wards in 4 hospitals, with one ward in each site randomised to implement Eat Walk Engage (intervention) and one to continue usual care (control). Intervention wards will be supported to develop and implement locally tailored strategies to enhance early mobility, nutrition, and meaningful activities. Resources will include a trained, mentored facilitator, audit support, a trained healthcare assistant, and support by an expert facilitator team using the i-PARIHS implementation framework. Patient outcomes and process measures before and after intervention will be compared between intervention and control wards. Primary outcomes are any hospital-associated geriatric syndrome (delirium, functional decline, falls, pressure injuries, new incontinence) and length of stay. Secondary outcomes include discharge destination; 30-day mortality, function and quality of life; 6 month readmissions; and cost-effectiveness. Process measures including patient interviews, activity mapping and mealtime audits will inform interventions in each site and measure improvement progress. Factors influencing the trajectory of implementation success will be monitored on implementation wards. Using a hybrid design and guided by an explicit implementation framework, the CHERISH study will establish the effectiveness, cost-effectiveness and transferability of a successful pilot program for improving care of older inpatients, and identify features that support successful implementation. ACTRN12615000879561 registered prospectively 21/8/2015.

Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

PubMed

Bebbington, A; Anderson, A; Ravine, D; Fyfe, S; Pineda, M; de Klerk, N; Ben-Zeev, B; Yatawara, N; Percy, A; Kaufmann, W E; Leonard, H

2008-03-11

Rett syndrome is an uncommon neurodevelopmental disorder with an incidence of 1:9,000 live female births. The principal genetic cause was first reported in 1999 when the association with mutations in the methyl-CpG-binding protein 2 (or MECP2) gene was identified. This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in a population-based cohort. The data set for these analyses was derived from a subset of InterRett cases with subject information collected from the family, the clinician, or both. Individual phenotypic characteristics and clinical severity using three scales were compared among those with eight known recurrent pathogenic MECP2 mutations as well as those with C-terminal deletions (n = 272). Overall, p.R270X and p.R255X were the most severe and p.R133C and p.R294X were the mildest mutations. Significant differences by mutation were seen for individual phenotypic characteristics such as hand use, ambulation, and language. This multicenter investigation into the phenotypic correlates of MECP2 mutations in Rett syndrome has provided a greater depth of understanding than hitherto available about the specific phenotypic characteristics associated with commonly occurring mutations. Although the modifying influence of X inactivation on clinical severity could not be included in the analysis, the findings confirm clear genotype-phenotype relationships in Rett syndrome and show the benefits of collaboration crucial to effective research in rare disorders.

The 2014International Workshop on Alport Syndrome.

PubMed

Miner, Jeffrey H; Baigent, Colin; Flinter, Frances; Gross, Oliver; Judge, Parminder; Kashtan, Clifford E; Lagas, Sharon; Savige, Judith; Blatt, Dave; Ding, Jie; Gale, Daniel P; Midgley, Julian P; Povey, Sue; Prunotto, Marco; Renault, Daniel; Skelding, Jules; Turner, A Neil; Gear, Susie

2014-10-01

Alport syndrome, historically referred to as hereditary glomerulonephritis with sensorineural deafness and anterior lenticonus, is a genetic disease of collagen α3α4α5(IV) resulting in renal failure. The collagen α3α4α5(IV) heterotrimer forms a network that is a major component of the kidney glomerular basement membrane (GBM) and basement membranes in the cochlea and eye. Alport syndrome, estimated to affect 1 in 5000-10,000 individuals, is caused by mutations in any one of the three genes that encode the α chain components of the collagen α3α4α5(IV) heterotrimer: COL4A3, COL4A4, and COL4A5. Although angiotensin-converting enzyme inhibition is effective in Alport syndrome patients for slowing progression to end-stage renal disease, it is neither a cure nor an adequate long-term protector. The 2014 International Workshop on Alport Syndrome, held in Oxford, UK, from January 3-5, was organized by individuals and families living with Alport syndrome, in concert with international experts in the clinical, genetic, and basic science aspects of the disease. Stakeholders from diverse communities-patient families, physicians, geneticists, researchers, Pharma, and funding organizations-were brought together so that they could meet and learn from each other and establish strategies and collaborations for the future, with the overall aim of discovering much needed new treatments to prolong kidney function.

The 2014 International Workshop on Alport Syndrome

PubMed Central

Miner, Jeffrey H; Baigent, Colin; Flinter, Frances; Gross, Oliver; Judge, Parminder; Kashtan, Clifford E; Lagas, Sharon; Savige, Judith; Blatt, Dave; Ding, Jie; Gale, Daniel P; Midgley, Julian P; Povey, Sue; Prunotto, Marco; Renault, Daniel; Skelding, Jules; Turner, A Neil; Gear, Susie

2014-01-01

Alport syndrome, historically referred to as hereditary glomerulonephritis with sensorineural deafness and anterior lenticonus, is a genetic disease of collagen α3α4α5(IV) resulting in renal failure. The collagen α3α4α5(IV) heterotrimer forms a network that is a major component of the kidney glomerular basement membrane (GBM) and basement membranes in the cochlea and eye. Alport syndrome, estimated to affect 1 in 5000–10,000 individuals, is caused by mutations in any one of the three genes that encode the α chain components of the collagen α3α4α5(IV) heterotrimer: COL4A3, COL4A4, and COL4A5. Although angiotensin-converting enzyme inhibition is effective in Alport syndrome patients for slowing progression to end-stage renal disease, it is neither a cure nor an adequate long-term protector. The 2014 International Workshop on Alport Syndrome, held in Oxford, UK, from January 3–5, was organized by individuals and families living with Alport syndrome, in concert with international experts in the clinical, genetic, and basic science aspects of the disease. Stakeholders from diverse communities—patient families, physicians, geneticists, researchers, Pharma, and funding organizations—were brought together so that they could meet and learn from each other and establish strategies and collaborations for the future, with the overall aim of discovering much needed new treatments to prolong kidney function. PMID:24988067

Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.

PubMed

Sunga, Annette Y; Ricker, Charité; Espenschied, Carin R; Castillo, Danielle; Melas, Marilena; Herzog, Josef; Bannon, Sarah; Cruz-Correa, Marcia; Lynch, Patrick; Solomon, Ilana; Gruber, Stephen B; Weitzel, Jeffrey N

2017-04-01

Lynch syndrome (LS), the most common hereditary colorectal cancer syndrome, is caused by mismatch repair (MMR) gene mutations. However, data about MMR mutations in Hispanics are limited. This study aims to describe the spectrum of MMR mutations in Hispanics with LS and explore ancestral origins. This case series involved an IRB-approved retrospective chart review of self-identified Hispanic patients (n = 397) seen for genetic cancer risk assessment at four collaborating academic institutions in California, Texas, and Puerto Rico who were evaluated by MMR genotyping and/or tumor analysis. A literature review was conducted for all mutations identified. Of those who underwent clinical genetic testing (n = 176), 71 had MMR gene mutations. Nine mutations were observed more than once. One third (3/9) of recurrent mutations and two additional mutations (seen only once) were previously reported in Spain, confirming the influence of Spanish ancestry on MMR mutations in Hispanic populations. The recurrent mutations identified (n = 9) included both previously reported mutations as well as unique mutations not in the literature. This is the largest report of Hispanic MMR mutations in North America; however, a larger sample and haplotype analyses are needed to better understand recurrent MMR mutations in Hispanic populations. Copyright © 2017. Published by Elsevier Inc.

Educator Toolkits on Second Victim Syndrome, Mindfulness and Meditation, and Positive Psychology: The 2017 Resident Wellness Consensus Summit

PubMed Central

Smart, Jon; Zdradzinski, Michael; Roth, Sarah; Gende, Alecia; Conroy, Kylie; Battaglioli, Nicole

2018-01-01

Introduction Burnout, depression, and suicidality among residents of all specialties have become a critical focus of attention for the medical education community. Methods As part of the 2017 Resident Wellness Consensus Summit in Las Vegas, Nevada, resident participants from 31 programs collaborated in the Educator Toolkit workgroup. Over a seven-month period leading up to the summit, this workgroup convened virtually in the Wellness Think Tank, an online resident community, to perform a literature review and draft curricular plans on three core wellness topics. These topics were second victim syndrome, mindfulness and meditation, and positive psychology. At the live summit event, the workgroup expanded to include residents outside the Wellness Think Tank to obtain a broader consensus of the evidence-based toolkits for these three topics. Results Three educator toolkits were developed. The second victim syndrome toolkit has four modules, each with a pre-reading material and a leader (educator) guide. In the mindfulness and meditation toolkit, there are three modules with a leader guide in addition to a longitudinal, guided meditation plan. The positive psychology toolkit has two modules, each with a leader guide and a PowerPoint slide set. These toolkits provide educators the necessary resources, reading materials, and lesson plans to implement didactic sessions in their residency curriculum. Conclusion Residents from across the world collaborated and convened to reach a consensus on high-yield—and potentially high-impact—lesson plans that programs can use to promote and improve resident wellness. These lesson plans may stand alone or be incorporated into a larger wellness curriculum. PMID:29560061

Educator Toolkits on Second Victim Syndrome, Mindfulness and Meditation, and Positive Psychology: The 2017 Resident Wellness Consensus Summit.

PubMed

Chung, Arlene S; Smart, Jon; Zdradzinski, Michael; Roth, Sarah; Gende, Alecia; Conroy, Kylie; Battaglioli, Nicole

2018-03-01

Burnout, depression, and suicidality among residents of all specialties have become a critical focus of attention for the medical education community. As part of the 2017 Resident Wellness Consensus Summit in Las Vegas, Nevada, resident participants from 31 programs collaborated in the Educator Toolkit workgroup. Over a seven-month period leading up to the summit, this workgroup convened virtually in the Wellness Think Tank, an online resident community, to perform a literature review and draft curricular plans on three core wellness topics. These topics were second victim syndrome, mindfulness and meditation, and positive psychology. At the live summit event, the workgroup expanded to include residents outside the Wellness Think Tank to obtain a broader consensus of the evidence-based toolkits for these three topics. Three educator toolkits were developed. The second victim syndrome toolkit has four modules, each with a pre-reading material and a leader (educator) guide. In the mindfulness and meditation toolkit, there are three modules with a leader guide in addition to a longitudinal, guided meditation plan. The positive psychology toolkit has two modules, each with a leader guide and a PowerPoint slide set. These toolkits provide educators the necessary resources, reading materials, and lesson plans to implement didactic sessions in their residency curriculum. Residents from across the world collaborated and convened to reach a consensus on high-yield-and potentially high-impact-lesson plans that programs can use to promote and improve resident wellness. These lesson plans may stand alone or be incorporated into a larger wellness curriculum.

Mismatched double-stranded RNA: polyI:polyC12U.

PubMed

2004-01-01

Ampligen [polyI:polyC12U] is a mismatched double-stranded RNA that acts by inducing interferon production (immunomodulator) and by activating an intracellular enzyme (RNase-L) against viral RNA transcripts (antiviral). Ampligen, currently under development by Hemispherx Biopharma in the US, acts on the immunological system through T-lymphocyte stimulation and is indicated for the treatment of chronic fatigue syndrome and acquired immunodeficiency deficiency syndrome (AIDS), as part of the combined therapy. Ampligen is available for licensing worldwide. In February 2004, Fujisawa Deutschland GmbH, a subsidiary of Fujisawa Pharmaceutical Co., entered into an option agreement with Hemispherx Biopharma with the intent of becoming a distributor for Ampligen for the potential treatment of chronic fatigue syndrome in Germany, Switzerland and Austria. An option fee of 400,000 euros was paid pursuant to the terms of the option agreement and upon execution of the Distribution Agreement, Fujisawa will pay Hemispherx fees and milestone payments with a potential worth of several millions of dollars. In September 2003, Hemispherx Biopharma Inc. entered into an agreement with Guangdong Medicine Group Corporation to organise clinical trials, marketing, sales and distribution for both of its lead compounds, Ampligen and Alferon N in the People's Republic of China. The agreement stipulates that the Guangdong Medicine Group Corporation (GMC) will conduct clinical trials with Ampligen for the treatment of HIV. All costs related to the trials are to be covered by GMC. Additionally, GMC has to develop and implement marketing and promotional programmes. In May 2003, Hemispherx Biopharma and the Center for Cell and Gene Therapy entered into a research project agreement that will see Ampligen implemented in a protocol used in patients with relapsed EBV-positive Hodgkin's Lymphoma. In March 2002, Esteve and Hemispherx Biopharma entered into a collaborative agreement under which Esteve will be the sole distributor of Ampligen in Spain, Portugal and Andorra for the treatment of chronic fatigue syndrome. Under this agreement, in addition to other terms, Esteve will also collaborate in the drug product development by conducting clinical studies in Spain in patients coinfected with HIV/HCV. In July 2001 Hemispherx Biopharma announced that it had formed a strategic alliance with Empire Health Resources for clinical trials of Ampligen in the treatment of HIV and hepatitis C virus infections. Empire Health Resources, a healthcare management firm, will be responsible for accrual and retention of patients for HIV trials, and protocols for trials in patients with hepatitis C or both HIV and hepatitis C infections. Hemispherx has entered into a collaboration with RED Laboratories, and RED Laboratories NV expects that this will facilitate the continued development of Ampligen. Hemispherx has also entered into an agreement with Schering Plough to use a Schering facility as its principal manufacturing platform in the US. This agreement may be expanded to include other territories. Hemispherx and AOP Orphan Pharmaceuticals have signed a marketing agreement for Ampligen for the treatment of chronic fatigue syndrome for Austria, the Czech Republic, Poland and Hungary. In an arrangement between Hemispherx and Bioclones, Bioclones has certain marketing rights for Ampligen in the Southern Hemisphere, UK and Ireland. In the US, Ampligen has been granted orphan drug status for the treatment of AIDS, renal cell carcinoma (phase II, completed), chronic fatigue syndrome (phase III) and invasive/metastatic malignant melanoma (phase II). In August 2004, Hemispherx announced that it intends to use the proceeds from the private placement of company stock to complete the clinical work for its immunotherapeutics/ antivirals Ampligen and Oragens. Previously, Hemispherx submitted an application to the EMEA for the approval of Ampligen for the treatment of chronic fatigue syndrome; the first stage of th;) for the treatment of chronic fatigue syndrome; the first stage of the regulatory review has been cleared. In 2000, Hemispherx Europe (Hemispherx) obtained orphan drug status for Ampligen for the treatment of chronic fatigue syndrome in the EU, providing Hemispherx with 10 years of marketing exclusivity following the launch of the drug, as well as potential financial research benefits for the agent. In February 2000, Crystaal Corporation (now Biovail Pharmaceuticals Canada) acquired exclusive marketing rights to Ampligen in Canada, where it submitted an NDA for the agent for the treatment of chronic fatigue syndrome. In the meantime, Ampligen has been available since May 1996 under the Canadian Emergency Drug Release Programme for the treatment of chronic fatigue syndrome and immune dysfunction syndrome by Rivex Pharma (Helix BioPharma). Bioclones has initiated clinical studies with Ampligen for the treatment of chronic fatigue syndrome in Australia. The active substance for Ampligen is manufactured by F.H. Faulding Ltd. Clinical treatment programmes for chronic fatigue syndrome in other Pacific Rim countries are planned. Ampligen is available for severe chronic fatigue syndrome on a named patient, cost-recovery basis in South Africa. Hemispherx has developed a 'ready-to-use' liquid formulation of the drug and has begun treating patients with chronic fatigue syndrome in ongoing clinical trials. Hemispherx has also developed an oral version of the drug (Oragen), which is undergoing preclinical evaluation. In February 2001, Hemispherx Biopharma announced that it was initiating phase II/III trials of Ampligen in the treatment of late-stage, multidrug-resistant strains of HIV in the European Union. Patients treated in these studies will have exhausted all other treatment options. In July 2001, Hemispherx stated that Ampligen was being evaluated in a phase IIb trial in patients with HIV in the US. The trial, comprising two studies, REARMI and REARMII (Research/Evaluation of Ampligen for Retroviral Mutations I and II), will evaluate the ability of Ampligen to prevent the emergence of mutated, drug-resistant strains of the virus. 'Several hundred' patients currently on antiretroviral therapy and at risk of viral relapse will be enrolled at centres in Connecticut, New York, Florida and California. A second phase IIb study evaluating the effect of Ampligen on structured treatment interruptions (STI) is also underway. Final results from this study were reported in December 2002. NIH sponsored studies of potential therapies for SARS have identified Ampligen as having unusually high and consistent antiviral activity against human coronavirus, the pathogen implicated as the causative agent of the disease. Ampligen demonstrated very high potency at very low concentrations (0.4 microg/mL) and had a favourable safety profile. In October 2003, Hemispherx announced that, based on these promising new results, the company will stockpile injectible and/or oral formats of Ampligen and Alferon N. Independent researchers have demonstrated the antiviral activity of Ampligen against flaviviruses (West Nile virus, Equine Encephalitis virus, Dengue fever virus and Japanese Encephalitis virus) as well as virus classes associated with bioterrorism. In an animal study, Ampligen was shown to prevent destruction of nerve cells, reduce virus concentrations in the brain and blood stream and increase survival rates. Researchers at the Rega Institute in Belgium have published results from an animal study demonstrating that Ampligen was superior at protecting mice against coxsackie B3 virus-induced myocarditis compared with pegylated interferon. In May 2004 Hemispherx announced that it had filed an expanded US patent application covering the use of Ampligen for the potential treatment and prevention of severe acute respiratory syndrome (SARS) and dreaded emerging viruses. Copyright 2004 Adis Data Information BV

American BRCA Outcomes and Utilization of Testing (ABOUT) study: a pragmatic research model that incorporates personalized medicine/patient-centered outcomes in a real world setting.

PubMed

Armstrong, Joanne; Toscano, Michele; Kotchko, Nancy; Friedman, Sue; Schwartz, Marc D; Virgo, Katherine S; Lynch, Kristian; Andrews, James E; Aguado Loi, Claudia X; Bauer, Joseph E; Casares, Carolina; Teten, Rachel Threet; Kondoff, Matthew R; Molina, Ashley D; Abdollahian, Mehrnaz; Brand, Lana; Walker, Gregory S; Sutphen, Rebecca

2015-02-01

Research to date regarding identification and management of hereditary breast and ovarian cancer syndrome (HBOC) in the U.S. has been confined primarily to academic center-based studies with limited patient engagement. To begin to understand and address the current gaps and disparities in delivery of services for the appropriate identification and optimal risk management of individuals with HBOC, we designed and have initiated the American BRCA Outcomes and Utilization of Testing (ABOUT) Study. ABOUT relies on a collaborative patient advocacy, academic and industry partnership to recruit and engage U.S. individuals who are at increased risk for HBOC and investigate their experiences, decisions and outcomes. It utilizes an extensive research infrastructure, including an interactive web-based data system and electronic interfaces for secure online participation and automated data exchange. We describe the novel recruitment approach that was designed for collaboration with a national commercial health plan partner to identify all individuals for whom a healthcare provider orders a BRCA test and mail to each individual an invitation to participate and study packet. The study packet contains detailed information about the study, a baseline questionnaire and informed consent for participation in the study, for release of relevant medical and health plan records and for ongoing research engagement. This approach employs patient-reported, laboratory-reported and health plan-reported outcomes and facilitates longitudinal engagement. We believe that the type of innovative methodology and collaborative framework we have developed for ABOUT is an ideal foundation for a patient-powered research network. This approach can make substantial contributions to identifying current and best practices in HBOC, leading to improved strategies for clinical care and optimal health outcomes among individuals with high inherited risk for cancer.

Performance on a computerized neurocognitive battery in 22q11.2 deletion syndrome: A comparison between US and Israeli cohorts

PubMed Central

Yi, James J.; Weinberger, Ronnie; Moore, Tyler M.; Calkins, Monica E.; Guri, Yael; McDonald-McGinn, Donna M.; Zackai, Elaine H.; Emanuel, Beverly S.; Gur, Raquel E.; Gothelf, Doron; Gur, Ruben C.

2016-01-01

Increasingly, the effects of copy number variation (CNV) in the genome on brain function and behaviors are recognized as means to elucidate pathophysiology of psychiatric disorders. Such studies require large samples and we characterized the neurocognitive profile of two cohorts of individuals with 22q11.2 deletion syndrome (22q11DS), the most common CNV associated with schizophrenia, in an effort to harmonize phenotyping in multi-site global collaborations. The Penn Computerized Neurocognitive Battery (PCNB) was administered to individuals with 22q11DS in Philadelphia (PHL; n=155, aged 12–40) and Tel Aviv (TLV; n=59, aged 12–36). We examined effect sizes of performance differences between the cohorts and confirmed the factor structure of PCNB performance efficiency in the combined sample based on data from a large comparison community sample. The cohorts performed comparably with notable deficits in executive function, episodic memory and social cognition domains that were previously associated with abnormal neuroimaging findings in 22q11DS. In mixed model analysis, while there was a main effect for site for accuracy (number of correct response) and speed (time to correct response) independently, there were no main site effects for standardized efficiency (average of accuracy and speed). The fit of a structural model was excellent indicating that PCNB tests were related to the targeted cognitive domains. Thus, our results provide preliminary support for the use of the PCNB as an efficient tool for neurocognitive assessment in international 22q11DS collaborations. PMID:27200494

Performance on a computerized neurocognitive battery in 22q11.2 deletion syndrome: A comparison between US and Israeli cohorts.

PubMed

Yi, James J; Weinberger, Ronnie; Moore, Tyler M; Calkins, Monica E; Guri, Yael; McDonald-McGinn, Donna M; Zackai, Elaine H; Emanuel, Beverly S; Gur, Raquel E; Gothelf, Doron; Gur, Ruben C

2016-07-01

Increasingly, the effects of copy number variation (CNV) in the genome on brain function and behaviors are recognized as means to elucidate pathophysiology of psychiatric disorders. Such studies require large samples and we characterized the neurocognitive profile of two cohorts of individuals with 22q11.2 deletion syndrome (22q11DS), the most common CNV associated with schizophrenia, in an effort to harmonize phenotyping in multi-site global collaborations. The Penn Computerized Neurocognitive Battery (PCNB) was administered to individuals with 22q11DS in Philadelphia (PHL; n=155, aged 12-40) and Tel Aviv (TLV; n=59, aged 12-36). We examined effect sizes of performance differences between the cohorts and confirmed the factor structure of PCNB performance efficiency in the combined sample based on data from a large comparison community sample. The cohorts performed comparably with notable deficits in executive function, episodic memory and social cognition domains that were previously associated with abnormal neuroimaging findings in 22q11DS. In mixed model analysis, while there was a main effect for site for accuracy (number of correct response) and speed (time to correct response) independently, there were no main site effects for standardized efficiency (average of accuracy and speed). The fit of a structural model was excellent indicating that PCNB tests were related to the targeted cognitive domains. Thus, our results provide preliminary support for the use of the PCNB as an efficient tool for neurocognitive assessment in international 22q11DS collaborations. Copyright © 2016 Elsevier Inc. All rights reserved.

Obsessive–compulsive disorder: subclassification based on co-morbidity

PubMed Central

Nestadt, G.; Di, C. Z.; Riddle, M. A.; Grados, M. A.; Greenberg, B. D.; Fyer, A. J.; McCracken, J. T.; Rauch, S. L.; Murphy, D. L.; Rasmussen, S. A.; Cullen, B.; Pinto, A.; Knowles, J. A.; Piacentini, J.; Pauls, D. L.; Bienvenu, O. J.; Wang, Y.; Liang, K. Y.; Samuels, J. F.; Roche, K. Bandeen

2011-01-01

Background Obsessive–compulsive disorder (OCD) is probably an etiologically heterogeneous condition. Many patients manifest other psychiatric syndromes. This study investigated the relationship between OCD and co-morbid conditions to identify subtypes. Method Seven hundred and six individuals with OCD were assessed in the OCD Collaborative Genetics Study (OCGS). Multi-level latent class analysis was conducted based on the presence of eight co-morbid psychiatric conditions [generalized anxiety disorder (GAD), major depression, panic disorder (PD), separation anxiety disorder (SAD), tics, mania, somatization disorders (Som) and grooming disorders (GrD)]. The relationship of the derived classes to specific clinical characteristics was investigated. Results Two and three classes of OCD syndromes emerge from the analyses. The two-class solution describes lesser and greater co-morbidity classes and the more descriptive three-class solution is characterized by: (1) an OCD simplex class, in which major depressive disorder (MDD) is the most frequent additional disorder; (2) an OCD co-morbid tic-related class, in which tics are prominent and affective syndromes are considerably rarer; and (3) an OCD co-morbid affective-related class in which PD and affective syndromes are highly represented. The OCD co-morbid tic-related class is predominantly male and characterized by high conscientiousness. The OCD co-morbid affective-related class is predominantly female, has a young age at onset, obsessive–compulsive personality disorder (OCPD) features, high scores on the ‘taboo’ factor of OCD symptoms, and low conscientiousness. Conclusions OCD can be classified into three classes based on co-morbidity. Membership within a class is differentially associated with other clinical characteristics. These classes, if replicated, should have important implications for research and clinical endeavors. PMID:19046474

Guillain-Barré Syndrome and Adjuvanted Pandemic Influenza A (H1N1) 2009 Vaccines: A Multinational Self-Controlled Case Series in Europe

PubMed Central

Dieleman, Jeanne P.; Olberg, Henning K.; de Vries, Corinne S.; Sammon, Cormac; Andrews, Nick; Svanström, Henrik; Mølgaard-Nielsen, Ditte; Hviid, Anders; Lapeyre-Mestre, Maryse; Sommet, Agnès; Saussier, Christel; Castot, Anne; Heijbel, Harald; Arnheim-Dahlström, Lisen; Sparen, Par; Mosseveld, Mees; Schuemie, Martijn; van der Maas, Nicoline; Jacobs, Bart C.; Leino, Tuija; Kilpi, Terhi; Storsaeter, Jann; Johansen, Kari; Kramarz, Piotr; Bonhoeffer, Jan; Sturkenboom, Miriam C. J. M.

2014-01-01

Background The risk of Guillain-Barré syndrome (GBS) following the United States' 1976 swine flu vaccination campaign in the USA led to enhanced active surveillance during the pandemic influenza (A(H1N1)pdm09) immunization campaign. This study aimed to estimate the risk of GBS following influenza A(H1N1)pdm09 vaccination. Methods A self-controlled case series (SCCS) analysis was performed in Denmark, Finland, France, Netherlands, Norway, Sweden, and the United Kingdom. Information was collected according to a common protocol and standardised procedures. Cases classified at levels 1–4a of the Brighton Collaboration case definition were included. The risk window was 42 days starting the day after vaccination. Conditional Poisson regression and pooled random effects models estimated adjusted relative incidences (RI). Pseudo likelihood and vaccinated-only methods addressed the potential contraindication for vaccination following GBS. Results Three hundred and three (303) GBS and Miller Fisher syndrome cases were included. Ninety-nine (99) were exposed to A(H1N1)pdm09 vaccination, which was most frequently adjuvanted (Pandemrix and Focetria). The unadjusted pooled RI for A(H1N1)pdm09 vaccination and GBS was 3.5 (95% Confidence Interval (CI): 2.2–5.5), based on all countries. This lowered to 2.0 (95% CI: 1.2–3.1) after adjustment for calendartime and to 1.9 (95% CI: 1.1–3.2) when we accounted for contra-indications. In a subset (Netherlands, Norway, and United Kingdom) we further adjusted for other confounders and there the RI decreased from 1.7 (adjusted for calendar month) to 1.4 (95% CI: 0.7–2.8), which is the main finding. Conclusion This study illustrates the potential of conducting European collaborative vaccine safety studies. The main, fully adjusted analysis, showed that the RI of GBS was not significantly elevated after influenza A(H1N1)pdm09 vaccination (RI = 1.4 (95% CI: 0.7–2.8). Based on the upper limits of the pooled estimate we can rule out with 95% certainty that the number of excess GBS cases after influenza A(H1N1)pdm09 vaccination would be more than 3 per million vaccinated. PMID:24404128

Hybrid procedures for an infant with hypoplastic left heart syndrome with intact atrial septum.

PubMed

Suzuki, Shoji; Kise, Hiroaki; Kaga, Shigeaki; Hoshiai, Minako; Koizumi, Keiichi; Hasebe, Yohei; Motohashi, Shinya; Matsumoto, Masahiko

2015-08-01

A boy, prenatally diagnosed as hypoplastic left heart syndrome (HLHS) with intact atrial septum (IAS) was successfully treated by hybrid procedures. He underwent emergent catheter atrial septostomy and stent insertion in the atrial septum on Day 1 and then underwent bilateral pulmonary artery banding, ductal stent insertion, modified Norwood operation, bidirectional Glenn's operation and finally Fontan type operation at 2 years of age. Considering the presence of decompression pathway from the left atrium in HLHS with IAS, we should organize a treatment team for collaborative work and plan an appropriate treatment strategy before delivery. Although his clinical course has been uneventful until now, closer medical observation is warranted because he may have coexisting pulmonary disease.

National data elements for the clinical management of acute coronary syndromes.

PubMed

Chew, Derek P B; Allan, Roger M; Aroney, Constantine N; Sheerin, Noella J

2005-05-02

Patients with acute coronary syndromes represent a clinically diverse group and their care remains heterogeneous. These patients account for a significant burden of morbidity and mortality in Australia. Optimal patient outcomes depend on rapid diagnosis, accurate risk stratification and the effective implementation of proven therapies, as advocated by clinical guidelines. The challenge is in effectively applying evidence in clinical practice. Objectivity and standardised quantification of clinical practice are essential in understanding the evidence-practice gap. Observational registries are key to understanding the link between evidence-based medicine, clinical practice and patient outcome. Data elements for monitoring clinical management of patients with acute coronary syndromes have been adapted from internationally accepted definitions and incorporated into the National Health Data Dictionary, the national standard for health data definitions in Australia. Widespread use of these data elements will assist in the local development of "quality-of-care" initiatives and performance indicators, facilitate collaboration in cardiovascular outcomes research, and aid in the development of electronic data collection methods.

When is irritable bowel syndrome not irritable bowel syndrome? Diagnosis and treatment of chronic functional abdominal pain.

PubMed

Grover, Madhusudan

2012-08-01

Functional abdominal pain syndrome (FAPS) is a distinct chronic gastrointestinal (GI) pain disorder characterized by the presence of constant or frequently recurring abdominal pain that is not associated with eating, change in bowel habits, or menstrual periods. The pain experience in FAPS is predominantly centrally driven as compared to other chronic painful GI conditions such as inflammatory bowel disease and chronic pancreatitis where peripherally acting factors play a major role in driving the pain. Psychosocial factors are often integrally associated with the disorder and can pose significant challenges to evaluation and treatment. Patients suffer from considerable loss of function, which can drive health care utilization. Treatment options are limited at best with most therapeutic regimens extrapolated from pain management of other functional GI disorders and chronic pain conditions. A comprehensive approach to management using a biopsychosocial construct and collaboration with pain specialists and psychiatry is most beneficial to the management of this disorder.

Charting a Roadmap for Heart Failure Biomarker Studies

PubMed Central

Ahmad, Tariq; Fiuzat, Mona; Pencina, Michael J.; Geller, Nancy L.; Zannad, Faiez; Cleland, John G. F.; Snider, James V.; Blankenberg, Stephan; Adams, Kirkwood F.; Redberg, Rita F.; Kim, Jae B.; Mascette, Alice; Mentz, Robert J.; O'Connor, Christopher M.; Felker, G. Michael; Januzzi, James L.

2014-01-01

Heart failure is a syndrome with a pathophysiological basis that can be traced to dysfunction in several interconnected molecular pathways. Identification of biomarkers of heart failure that allow measurement of the disease on a molecular level has resulted in enthusiasm for their use in prognostication and selection of appropriate therapies. However, despite considerable amounts of information available on numerous biomarkers, inconsistent research methodologies and lack of clinical correlations have made bench-to-bedside translations rare and left the literature with countless publications of varied quality. There is a need for a systematic and collaborative approach aimed at definitively studying the clinical benefits of novel biomarkers. In this review, on the basis of input from academia, industry, and governmental agencies, we propose a systematized approach based on adherence to specific quality measures for studies looking to augment current prediction model or use biomarkers to tailor therapeutics. We suggest that study quality, rather than results, should determine publication and propose a system for grading biomarker studies. We outline the need for collaboration between clinical investigators and statisticians to introduce more advanced statistical methodologies into the field of biomarkers that would allow for data from a large number of variables to be distilled into clinically actionable information. Lastly, we propose the creation of a heart failure biomarker consortium that would allow for a comprehensive list of biomarkers to be concomitantly analyzed in a pooled sample of randomized clinical trials and hypotheses to be generated for testing in biomarker-guided trials. Such a consortium could collaborate in sharing samples to identify biomarkers, undertake meta- analyses on completed trials, and spearhead clinical trials to test the clinical utility of new biomarkers. PMID:24929535

Global research trends of World Health Organization's top eight emerging pathogens.

PubMed

Sweileh, Waleed M

2017-02-08

On December 8 th , 2015, World Health Organization published a priority list of eight pathogens expected to cause severe outbreaks in the near future. To better understand global research trends and characteristics of publications on these emerging pathogens, we carried out this bibliometric study hoping to contribute to global awareness and preparedness toward this topic. Scopus database was searched for the following pathogens/infectious diseases: Ebola, Marburg, Lassa, Rift valley, Crimean-Congo, Nipah, Middle Eastern Respiratory Syndrome (MERS), and Severe Respiratory Acute Syndrome (SARS). Retrieved articles were analyzed to obtain standard bibliometric indicators. A total of 8619 journal articles were retrieved. Authors from 154 different countries contributed to publishing these articles. Two peaks of publications, an early one for SARS and a late one for Ebola, were observed. Retrieved articles received a total of 221,606 citations with a mean ± standard deviation of 25.7 ± 65.4 citations per article and an h-index of 173. International collaboration was as high as 86.9%. The Centers for Disease Control and Prevention had the highest share (344; 5.0%) followed by the University of Hong Kong with 305 (4.5%). The top leading journal was Journal of Virology with 572 (6.6%) articles while Feldmann, Heinz R. was the most productive researcher with 197 (2.3%) articles. China ranked first on SARS, Turkey ranked first on Crimean-Congo fever, while the United States of America ranked first on the remaining six diseases. Of retrieved articles, 472 (5.5%) were on vaccine - related research with Ebola vaccine being most studied. Number of publications on studied pathogens showed sudden dramatic rise in the past two decades representing severe global outbreaks. Contribution of a large number of different countries and the relatively high h-index are indicative of how international collaboration can create common health agenda among distant different countries.

An Official Critical Care Societies Collaborative Statement-Burnout Syndrome in Critical Care Health-care Professionals: A Call for Action.

PubMed

Moss, Marc; Good, Vicki S; Gozal, David; Kleinpell, Ruth; Sessler, Curtis N

2016-07-01

Burnout syndrome (BOS) occurs in all types of health-care professionals and is especially common in individuals who care for critically ill patients. The development of BOS is related to an imbalance of personal characteristics of the employee and work-related issues or other organizational factors. BOS is associated with many deleterious consequences, including increased rates of job turnover, reduced patient satisfaction, and decreased quality of care. BOS also directly affects the mental health and physical well-being of the many critical care physicians, nurses, and other health-care professionals who practice worldwide. Until recently, BOS and other psychological disorders in critical care health-care professionals remained relatively unrecognized. To raise awareness of BOS, the Critical Care Societies Collaborative (CCSC) developed this call to action. The present article reviews the diagnostic criteria, prevalence, causative factors, and consequences of BOS. It also discusses potential interventions that may be used to prevent and treat BOS. Finally, we urge multiple stakeholders to help mitigate the development of BOS in critical care health-care professionals and diminish the harmful consequences of BOS, both for critical care health-care professionals and for patients. Copyright © 2016 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

A possible genetic association with chronic fatigue in primary Sjögren's syndrome: a candidate gene study.

PubMed

Norheim, Katrine Brække; Le Hellard, Stephanie; Nordmark, Gunnel; Harboe, Erna; Gøransson, Lasse; Brun, Johan G; Wahren-Herlenius, Marie; Jonsson, Roland; Omdal, Roald

2014-02-01

Fatigue is prevalent and disabling in primary Sjögren's syndrome (pSS). Results from studies in chronic fatigue syndrome (CFS) indicate that genetic variation may influence fatigue. The aim of this study was to investigate single nucleotide polymorphism (SNP) variations in pSS patients with high and low fatigue. A panel of 85 SNPs in 12 genes was selected based on previous studies in CFS. A total of 207 pSS patients and 376 healthy controls were genotyped. One-hundred and ninety-three patients and 70 SNPs in 11 genes were available for analysis after quality control. Patients were dichotomized based on fatigue visual analogue scale (VAS) scores, with VAS <50 denominated "low fatigue" (n = 53) and VAS ≥50 denominated "high fatigue" (n = 140). We detected signals of association with pSS for one SNP in SLC25A40 (unadjusted p = 0.007) and two SNPs in PKN1 (both p = 0.03) in our pSS case versus control analysis. The association with SLC25A40 was stronger when only pSS high fatigue patients were analysed versus controls (p = 0.002). One SNP in PKN1 displayed an association in the case-only analysis of pSS high fatigue versus pSS low fatigue (p = 0.005). This candidate gene study in pSS did reveal a trend for associations between genetic variation in candidate genes and fatigue. The results will need to be replicated. More research on genetic associations with fatigue is warranted, and future trials should include larger cohorts and multicentre collaborations with sharing of genetic material to increase the statistical power.

Improving Health Care for Critically Ill Patients Using an Evidence-Based Collaborative Approach to ABCDEF Bundle Dissemination and Implementation.

PubMed

Barnes-Daly, Mary Ann; Pun, Brenda T; Harmon, Lori A; Byrum, Diane G; Kumar, Vishakha K; Devlin, John W; Stollings, Joanna L; Puntillo, Kathleen A; Engel, Heidi J; Posa, Patricia J; Barr, Juliana; Schweickert, William D; Esbrook, Cheryl L; Hargett, Ken D; Carson, Shannon S; Aldrich, J Matthew; Ely, E Wesley; Balas, Michele C

2018-06-01

Patients admitted to intensive care units (ICUs) often experience pain, oversedation, prolonged mechanical ventilation, delirium, and weakness. These conditions are important in that they often lead to protracted physical, neurocognitive, and mental health sequelae now termed postintensive care syndrome. Changing current ICU practice will not only require the adoption of evidence-based interventions but the development of effective and reliable teams to support these new practices. To build on the success of bundled care and bridge an ongoing evidence-practice gap, the Society of Critical Care Medicine (SCCM) recently launched the ICU Liberation ABCDEF Bundle Improvement Collaborative. The Collaborative aimed to foster the bedside application of the SCCM's Pain, Agitation, and Delirium Guidelines via the ABCDEF bundle. The purpose of this paper is to describe the history of the Collaborative, the evidence-based implementation strategies used to foster change and teamwork, and the performance and outcome metrics used to monitor progress. Collaborative participants were required to attend four in-person meetings, monthly colearning calls, database training sessions, an e-Community listserv, and select in-person site visits. Teams submitted patient-level data and completed pre- and postimplementation questionnaires focused on the assessment of teamwork and collaboration, work environment, and overall ICU care. Faculty shared the evidence used to derive each bundle element as well as team-based implementation strategies for improvement and sustainment. Retention in the Collaborative was high, with 67 of 69 adult and eight of nine pediatric ICUs fully completing the program. Baseline and prospective data were collected on over 17,000 critically ill patients. A variety of evidence-based professional behavioral change interventions and novel implementation techniques were utilized and shared among Collaborative members. Hospitals and health systems can use the Collaborative structure, strategies, and tools described in this paper to help successfully implement the ABCDEF bundle in their ICUs. © 2018 Sigma Theta Tau International.

Binational outbreak of Guillain-Barré syndrome associated with Campylobacter jejuni infection, Mexico and USA, 2011.

PubMed

Jackson, B R; Zegarra, J Alomía; López-Gatell, H; Sejvar, J; Arzate, F; Waterman, S; Núñez, A Sánchez; López, B; Weiss, J; Cruz, R Quintero; Murrieta, D Y López; Luna-Gierke, R; Heiman, K; Vieira, A R; Fitzgerald, C; Kwan, P; Zárate-Bermúdez, M; Talkington, D; Hill, V R; Mahon, B

2014-05-01

In June 2011, a cluster of suspected cases of Guillain-Barré syndrome (GBS), which can follow Campylobacter jejuni infection, was identified in San Luis Río Colorado (SLRC), Sonora, Mexico and Yuma County, Arizona, USA. An outbreak investigation identified 26 patients (18 from Sonora, eight from Arizona) with onset of GBS 4 May-21 July 2011, exceeding the expected number of cases (n = 1-2). Twenty-one (81%) patients reported antecedent diarrhoea, and 61% of 18 patients tested were seropositive for C. jejuni IgM antibodies. In a case-control study matched on age group, sex, ethnicity, and neighbourhood of residence, all Arizona GBS patients travelled to SLRC during the exposure period vs. 45% of matched controls (matched odds ratio 8·1, 95% confidence interval 1·5-∞). Exposure information and an environmental assessment suggested that GBS cases resulted from a large outbreak of C. jejuni infection from inadequately disinfected tap water in SLRC. Binational collaboration was essential in investigating this cross-border GBS outbreak, the first in mainland North America since 1976.

[Distressful journey for the metabolic syndrome to its position in clinical practice].

PubMed

Rybka, J

2010-07-01

MS is a major atherogenic syndrome in our population. The concept of MS has had a very positive effect on our knowledge of the most serious civilization diseases, the genotypic constellation of MS, although monogenic defects explain only a very small part of pathological defects. It is certain, however, that a crucial role played is by interactions between genetic factors and risk factors of external environment. Undoubtedly, insulin resistance, central obesity and impaired metabolism of adipose tissue play an important role in the pathogenesis of MS, and there are other pathogenetic theories. The author discusses briefly the history of MS and presents the best-known definitions starting with the 90s ofthe last century, ADA and EASD reservations towards MS, as well as the new harmonized definition from 2009. This modified definition ofMS has been adopted in practice in the Czech Republic due to the Czech Institute ofmetabolic syndrome. The author discusses in greater detail the WHO expert report from 2010, which indicates some limitations of diagnostic criteria for MS. Despite all the objections the expert report provides reasons to support the use of the term metabolic syndrome, and metabolic syndrome is considered to be a recognized concept that focuses attention on the importance of comprehensive, multifactorial health problems. Finally, the author mentions sub-problems related to MS, which will have to be resolved in collaboration with diabetologists.

[Idiopathic Nephrotic Syndrome: recommendations of the Nephrology Branch of the Chilean Society of Pediatrics. Part One].

PubMed

Hevia, Pilar; Nazal, Vilma; Rosati, María Pía; Quiroz, Lily; Alarcón, Claudia; Márquez, Sonia; Cuevas, Karen

2015-01-01

Idiopathic nephrotic syndrome is the most common glomerular disease in childhood, affecting 1 to 3 per 100,000 children under the age of 16. It most commonly occurs in ages between 2 and 10. Its cause is unknown and its histology corresponds to minimal change disease in 90% of cases, or focal segmental glomerulosclerosis. 80 to 90% of cases respond to steroids (steroid-sensitive nephrotic syndrome) with good prognosis and long-term preservation of renal function over time. 70% of patients with SSNS have one or more relapses in their evolution, and of these, 50% behave as frequent relapsing or steroid-dependent, a group that concentrate the risk of steroid toxicity. Patients with steroid-resistant nephrotic syndrome have a poor prognosis and 50% of them evolve to end-stage renal disease. The goal of therapy is to induce and maintain remission of the disease, reducing the risk secondary to proteinuria while minimizing the adverse effects of treatments, especially with prolonged use of corticosteroids. This paper is the result of the collaborative effort of the Nephrology Branch of the Chilean Society of Pediatrics with aims at helping pediatricians and pediatric nephrologists to treat pediatric SNI. In this first part, recommendations of steroid-sensitive nephrotic syndrome are discussed. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Two-stage treatment protocol of keratocystic odontogenic tumour in young patients with Gorlin-Goltz syndrome: marsupialization and later enucleation with peripheral ostectomy. A 5-year-follow-up experience.

PubMed

Borgonovo, Andrea Enrico; Di Lascia, Stefano; Grossi, Giovanni; Maiorana, Carlo

2011-12-01

Keratocystic odontogenic tumour (KCOT) is a benign uni- or multicystic intraosseous odontogenic tumour with potential for local destruction and tendency for multiplicity, especially when associated with Gorlin-Goltz syndrome. We suggest a conservative surgical treatment based on marsupialization and later enucleation with peripheral ostectomy in order to preserve jaw's integrity in young patients. Three young patients affected of nevoid basal cell carcinoma syndrome (NBCCS or Gorlin-Goltz syndrome) presented large and multiple KCOTs, which have been treated following a two-stage surgical strategy. Initially marsupialization was performed and after a mean period of 10 months, contextually to evident reduction in radiological size image, enucleation with peripheral ostectomy was carried out. All the patients showed high collaboration in daily self-irrigation of the stomia with chlorhexidine 0.2% during the period of marsupialization. Definitive surgical intervention led to complete healing and no signs of recurrence have been observed during a 5-year-follow-up. The main advantage of this modality is the preservation of important anatomical structures involved in the lesion and jaw's continuity. Therefore in a selected group of cooperative patients, especially those affected of Gorlin-Goltz syndrome, the surgical protocol exposed allows for a less invasive approach with excellent results avoiding extensive disfiguring procedures. Copyright © 2011. Published by Elsevier Ireland Ltd.

Diagnosis of Guillain-Barré syndrome and validation of Brighton criteria.

PubMed

Fokke, Christiaan; van den Berg, Bianca; Drenthen, Judith; Walgaard, Christa; van Doorn, Pieter Antoon; Jacobs, Bart Casper

2014-01-01

Guillain-Barré syndrome is an acute polyradiculoneuropathy with a variable clinical presentation. Accurate diagnostic criteria are essential for patient care and research, including clinical trials and vaccine safety studies. Several diagnostic criteria for Guillain-Barré syndrome have been proposed, including the recent set by the Brighton Collaboration. In the present study we describe in detail the key diagnostic features required to meet these Brighton criteria in a study population of 494 adult patients with Guillain-Barré syndrome, previously included in therapeutic and observational studies. The patients had a median age of 53 years (interquartile range 36-66 years) and males slightly predominated (56%). All patients developed bilateral limb weakness which generally involved both upper and lower extremities. The weakness remained restricted to the legs in 6% and to the arms in 1% of the patients. Decreased reflexes in paretic arms or legs were found initially in 91% of patients and in all patients during follow-up. Ten (2%) patients however showed persistence of normal reflexes in paretic arms. Disease nadir was reached within 2 weeks in 80%, within 4 weeks in 97% and within 6 weeks in all patients. A monophasic disease course occurred in 95% of patients, of whom 10% had a treatment-related fluctuation. A clinical deterioration after 8 weeks of onset of weakness occurred in 23 (5%) patients. Cerebrospinal fluid was examined in 474 (96%) patients. A mild pleocytosis (5 to 50 cells/μl) was found in 15%, and none had more than 50 cells/μl. An increased cerebrospinal fluid protein concentration was found only in 64% of patients, highly dependent on the timing of the lumbar puncture after onset of weakness (49% at the first day to 88% after 2 weeks). Nerve electrophysiology was compatible with the presence of a neuropathy in 99% of patients, but only 59% fulfilled the current criteria for a distinct subtype of Guillain-Barré syndrome. Patients with a complete data set (335) were classified according to the Brighton criteria, ranging from a high to a low level of diagnostic certainty, as level 1 in 61%, level 2 in 33%, level 3 in none, and level 4 in 6% of patients. Patients categorized in these levels did not differ with respect to proportion of patients with preceding events, initial clinical manifestations or outcome. The observed variability in the key diagnostic features of Guillain-Barré syndrome in the current cohort study, can be used to improve the sensitivity of the diagnostic criteria.

Sudden unexpected infant death: differentiating natural from abusive causes in the emergency department.

PubMed

Bechtel, Kirsten

2012-10-01

Sudden unexpected infant deaths (SUIDs) are deaths in infants younger than 12 months that occur suddenly, unexpectedly, and without obvious cause in the emergency department (ED). Sudden infant death syndrome, the leading cause of SUID in the United States, is much more common, but fatal child abuse and neglect have been sometimes mistaken for sudden infant death syndrome. The distinction between these 2 entities can only be made after a thorough investigation of the scene, interview of caregivers, and a complete forensic autopsy. Development of ED guidelines for the reporting and evaluation of SUID, in collaboration with the local medical examiner and child death review teams, will enable ED practitioners to collect important information in a compassionate manner that will be valuable to the investigating personnel.

Genetic Basis of Sjögren's Syndrome. How Strong is the Evidence?

PubMed Central

Anaya, Juan-Manuel; Delgado-Vega, Angélica María; Castiblanco, John

2006-01-01

Sjögren's syndrome (SS) is a late-onset chronic autoimmune disease (AID) affecting the exocrine glands, mainly the salivary and lachrymal. Genetic studies on twins with primary SS have not been performed, and only a few case reports describing twins have been published. The prevalence of primary SS in siblings has been estimated to be 0.09% while the reported general prevalence of the disease is approximately 0.1%. The observed aggregation of AIDs in families of patients with primary SS is nevertheless supportive for a genetic component in its etiology. In the absence of chromosomal regions identified by linkage studies, research has focused on candidate gene approaches (by biological plausibility) rather than on positional approaches. Ancestral haplotype 8.1 as well as TNF, IL10 and SSA1 loci have been consistently associated with the disease although they are not specific for SS. In this review, the genetic component of SS is discussed on the basis of three known observations: (a) age at onset and sex-dependent presentation, (b) familial clustering of the disease, and (c) dissection of the genetic component. Since there is no strong evidence for a specific genetic component in SS, a large international and collaborative study would be suitable to assess the genetics of this disorder. PMID:17162364

Cost-utility of a specific collaborative group intervention for patients with functional somatic syndromes.

PubMed

Konnopka, Alexander; König, Hans-Helmut; Kaufmann, Claudia; Egger, Nina; Wild, Beate; Szecsenyi, Joachim; Herzog, Wolfgang; Schellberg, Dieter; Schaefert, Rainer

2016-11-01

Collaborative group intervention (CGI) in patients with functional somatic syndromes (FSS) has been shown to improve mental quality of life. To analyse incremental cost-utility of CGI compared to enhanced medical care in patients with FSS. An economic evaluation alongside a cluster-randomised controlled trial was performed. 35 general practitioners (GPs) recruited 300 FSS patients. Patients in the CGI arm were offered 10 group sessions within 3months and 2 booster sessions 6 and 12months after baseline. Costs were assessed via questionnaire. Quality adjusted life years (QALYs) were calculated using the SF-6D index, derived from the 36-item short-form health survey (SF-36). We calculated patients' net-monetary-benefit (NMB), estimated the treatment effect via regression, and generated cost-effectiveness acceptability curves. Using intention-to-treat analysis, total costs during the 12-month study period were 5777EUR in the intervention, and 6858EUR in the control group. Controlling for possible confounders, we found a small, but significant positive intervention effect on QALYs (+0.017; p=0.019) and an insignificant cost saving resulting from a cost-increase in the control group (-10.5%; p=0.278). NMB regression showed that the probability of CGI to be cost-effective was 69% for a willingness to pay (WTP) of 0EUR/QALY, increased to 92% for a WTP of 50,000EUR/QALY and reached the level of 95% at a WTP of 70,375EUR/QALY. Subgroup analyses yielded that CGI was only cost-effective in severe somatic symptom severity (PHQ-15≥15). CGI has a high probability to be a cost-effective treatment for FSS, in particular for patients with severe somatic symptom severity. Copyright © 2016 Elsevier Inc. All rights reserved.

Self-contained image mapping of placental vasculature in 3D ultrasound-guided fetoscopy.

PubMed

Yang, Liangjing; Wang, Junchen; Ando, Takehiro; Kubota, Akihiro; Yamashita, Hiromasa; Sakuma, Ichiro; Chiba, Toshio; Kobayashi, Etsuko

2016-09-01

Surgical navigation technology directed at fetoscopic procedures is relatively underdeveloped compared with other forms of endoscopy. The narrow fetoscopic field of views and the vast vascular network on the placenta make examination and photocoagulation treatment of twin-to-twin transfusion syndrome challenging. Though ultrasonography is used for intraoperative guidance, its navigational ability is not fully exploited. This work aims to integrate 3D ultrasound imaging and endoscopic vision seamlessly for placental vasculature mapping through a self-contained framework without external navigational devices. This is achieved through development, integration, and experimentation of novel navigational modules. Firstly, a framework design that addresses the current limitations based on identified gaps is conceptualized. Secondly, integration of navigational modules including (1) ultrasound-based localization, (2) image alignment, and (3) vision-based tracking to update the scene texture map is implemented. This updated texture map is projected to an ultrasound-constructed 3D model for photorealistic texturing of the 3D scene creating a panoramic view of the moving fetoscope. In addition, a collaborative scheme for the integration of the modular workflow system is proposed to schedule updates in a systematic fashion. Finally, experiments are carried out to evaluate each modular variation and an integrated collaborative scheme of the framework. The modules and the collaborative scheme are evaluated through a series of phantom experiments with controlled trajectories for repeatability. The collaborative framework demonstrated the best accuracy (5.2 % RMS error) compared with all the three single-module variations during the experiment. Validation on an ex vivo monkey placenta shows visual continuity of the freehand fetoscopic panorama. The proposed developed collaborative framework and the evaluation study of the framework variations provide analytical insights for effective integration of ultrasonography and endoscopy. This contributes to the development of navigation techniques in fetoscopic procedures and can potentially be extended to other applications in intraoperative imaging.

Standards in collaborative international disaster drills: a case study of two international search and rescue drills.

PubMed

Rokach, Ariel; Pinkert, Moshe; Nemet, Dani; Goldberg, Avishay; Bar-Dayan, Yaron

2008-01-01

During the last few decades, various global disasters have rendered nations helpless (such as Thailand's tsunami and earthquakes in Turkey, Pakistan, Iran, and India). A lack of knowledge and resources make it difficult to address such disasters. Preparedness for a national disaster is expensive, and in most cases, unachievable even for modern countries. International collaboration might be useful for coping with large-scale disasters. Preparedness for international collaboration includes drills. Two such drills held by the Israeli Home Front Command and other military and civilian bodies with the nations of Greece and Turkey are described in this article. The data were gathered from formal debriefings of the Israeli teams collaborating in two separate drills with Greek and Turkish teams. Preparations began four months before the drills were conducted and included three meetings between Israeli and foreign officials. The Israeli and foreign officials agreed upon the drill layout, logistics, communications, residence, real-time medicine, hardware, and equipment. The drills took place in Greece and Turkey and lasted four days. The first day included meetings between the teams and logistics preparations. The second and third days were devoted to exercises. The drills included evacuating casualties from a demolition zone and treating typical injuries such as crush syndrome. Every day ended with a formal debriefing by the teams' commanders. The fourth day included a ceremony and transportation back home. Members in both teams felt the drills improved their skills and had an important impact on creating common language that would enhance cooperation during a real disaster. A key factor in the management of large-scale disasters is coordination between countries. International drills are important to create common language within similar regulations.

Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in France.

PubMed

Chipaux, Mathilde; Szurhaj, William; Vercueil, Laurent; Milh, Mathieu; Villeneuve, Nathalie; Cances, Claude; Auvin, Stéphane; Chassagnon, Serge; Napuri, Sylvia; Allaire, Catherine; Derambure, Philippe; Marchal, Cécile; Caubel, Isabelle; Ricard-Mousnier, Brigitte; N'Guyen The Tich, Sylvie; Pinard, Jean-Marc; Bahi-Buisson, Nadia; de Baracé, Claire; Kahane, Philippe; Gautier, Agnès; Hamelin, Sophie; Coste-Zeitoun, Delphine; Rosenberg, Sarah-Dominique; Clerson, Pierre; Nabbout, Rima; Kuchenbuch, Mathieu; Picot, Marie-Christine; Kaminska, Anna

2016-05-01

To obtain perspective on epilepsy in patients referred to tertiary centers in France, and describe etiology, epilepsy syndromes, and identify factors of drug resistance and comorbidities. We performed a cross-sectional analysis of the characteristics of 5,794 pediatric and adult patients with epilepsy included in a collaborative database in France between 2007 and 2013. Comparisons between groups used Student's t-test or Fisher's exact test for binary or categorical variables. Factors associated with drug resistance and intellectual disability were evaluated in multi-adjusted logistic regression models. Mean age at inclusion was 17.9 years; children accounted for 67%. Epilepsy was unclassified in 20% of patients, and etiology was unknown in 65%, including those with idiopathic epilepsies. Etiologies differed significantly in adult- when compared to pediatric-onset epilepsy; however, among focal structural epilepsies, mesial temporal lobe epilepsy with hippocampal sclerosis began as often in the pediatric as in adult age range. Drug resistance concerned 53% of 4,210 patients evaluable for seizure control and was highest in progressive myoclonic epilepsy (89%), metabolic diseases (84%), focal cortical dysplasia (70%), other cortical malformations (69%), and mesial temporal lobe epilepsy with hippocampal sclerosis (67%). Fifty-nine percent of patients with focal structural epilepsy and 69% with epileptic encephalopathies were drug resistant; however, 40-50% of patients with West syndrome and epileptic encephalopathy with continuous spike-and-waves during sleep were seizure-free. Ages at onset in infancy and in young adults shared the highest risk of drug resistance. Epilepsy onset in infancy comprised the highest risk of intellectual disability, whereas specific cognitive impairment affected 36% of children with idiopathic focal epilepsy. Our study provides a snapshot on epilepsy in patients referred to tertiary centers and discloses needs for diagnosis and treatment. Large databases help identify patients with rare conditions that could benefit from specific prospective studies. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

Long-term cardiovascular mortality after procedure-related or spontaneous myocardial infarction in patients with non-ST-segment elevation acute coronary syndrome: a collaborative analysis of individual patient data from the FRISC II, ICTUS, and RITA-3 trials (FIR).

PubMed

Damman, Peter; Wallentin, Lars; Fox, Keith A A; Windhausen, Fons; Hirsch, Alexander; Clayton, Tim; Pocock, Stuart J; Lagerqvist, Bo; Tijssen, Jan G P; de Winter, Robbert J

2012-01-31

The present study was designed to investigate the long-term prognostic impact of procedure-related and spontaneous myocardial infarction (MI) on cardiovascular mortality in patients with non-ST-elevation acute coronary syndrome. Five-year follow-up after procedure-related or spontaneous MI was investigated in the individual patient pooled data set of the FRISC-II (Fast Revascularization During Instability in Coronary Artery Disease), ICTUS (Invasive Versus Conservative Treatment in Unstable Coronary Syndromes), and RITA-3 (Randomized Intervention Trial of Unstable Angina 3) non-ST-elevation acute coronary syndrome trials. The principal outcome was cardiovascular death up to 5 years of follow-up. Cumulative event rates were estimated by the Kaplan-Meier method; hazard ratios were calculated with time-dependent Cox proportional hazards models. Adjustments were made for the variables associated with long-term outcomes. Among the 5467 patients, 212 experienced a procedure-related MI within 6 months after enrollment. A spontaneous MI occurred in 236 patients within 6 months. The cumulative cardiovascular death rate was 5.2% in patients who had a procedure-related MI, comparable to that for patients without a procedure-related MI (hazard ratio 0.66; 95% confidence interval, 0.36-1.20, P=0.17). In patients who had a spontaneous MI within 6 months, the cumulative cardiovascular death rate was 22.2%, higher than for patients without a spontaneous MI (hazard ratio 4.52; 95% confidence interval, 3.37-6.06, P<0.001). These hazard ratios did not change materially after risk adjustments. Five-year follow-up of patients with non-ST-elevation acute coronary syndrome from the 3 trials showed no association between a procedure-related MI and long-term cardiovascular mortality. In contrast, there was a substantial increase in long-term mortality after a spontaneous MI.

Toxic Encephalopathy

PubMed Central

Kim, Jae Woo

2012-01-01

This article schematically reviews the clinical features, diagnostic approaches to, and toxicological implications of toxic encephalopathy. The review will focus on the most significant occupational causes of toxic encephalopathy. Chronic toxic encephalopathy, cerebellar syndrome, parkinsonism, and vascular encephalopathy are commonly encountered clinical syndromes of toxic encephalopathy. Few neurotoxins cause patients to present with pathognomonic neurological syndromes. The symptoms and signs of toxic encephalopathy may be mimicked by many psychiatric, metabolic, inflammatory, neoplastic, and degenerative diseases of the nervous system. Thus, the importance of good history-taking that considers exposure and a comprehensive neurological examination cannot be overemphasized in the diagnosis of toxic encephalopathy. Neuropsychological testing and neuroimaging typically play ancillary roles. The recognition of toxic encephalopathy is important because the correct diagnosis of occupational disease can prevent others (e.g., workers at the same worksite) from further harm by reducing their exposure to the toxin, and also often provides some indication of prognosis. Physicians must therefore be aware of the typical signs and symptoms of toxic encephalopathy, and close collaborations between neurologists and occupational physicians are needed to determine whether neurological disorders are related to occupational neurotoxin exposure. PMID:23251840

C-reactive Protein as a Predictor of Adverse outcome in Patients with Acute Coronary Syndrome.

PubMed

Sheikh, A S; Yahya, S; Sheikh, N S; Sheikh, A A

2012-01-01

The acute-phase reactant C-reactive protein (CRP) has been shown to reflect systemic and vascular inflammation and to predict future cardiovascular events. The objective of this study was to evaluate the prognostic value of CRP in predicting cardiovascular outcome in patients presenting with acute coronary syndromes. This prospective, single-centered study was carried out by the Department of Pathology in collaboration with the Department of Cardiology, Bolan Medical College Complex Quetta, Balochistan, Pakistan from January 2009 to December 2009. We studied 963 consecutive patients presenting with chest pain to Accident and Emergency Department. Patients were divided into four groups. Group-1 comprised patients with unstable angina; group-2 included patients with acute ST elevation myocardial infarction (STEMI); group-3 comprised patients with Non-ST elevation myocardial infarction (Non-STEMI) and group-4 was the control group. All four groups were followed-up for 90 days for occurrence of cardiovascular events. The CRP was elevated (>3 mg/L) among 27.6% patients in Group-1; 70.9% in group- 2; 77.9% in group-3 and 5.3% in the control group. Among cases with elevated CRP, 92.1% had a cardiac event compared to 34.3% among patients with CRP £3 mg/L (P < 0.0001). The mortality was significantly higher (P < 0.0001) in group-2 (8.9%) and group-3 (11.9%) as compared to group-1 (2.1%). There was no cardiac event or mortality in Group-4. Elevated CRP is a predictor of adverse outcome in patients with acute coronary syndromes and helps in identifying patients who may be at risk of cardiovascular complications.

C-reactive Protein as a Predictor of Adverse outcome in Patients with Acute Coronary Syndrome

PubMed Central

Sheikh, A. S.; Yahya, S.; Sheikh, N. S.; Sheikh, A. A

2012-01-01

Background and Objectives: The acute-phase reactant C-reactive protein (CRP) has been shown to reflect systemic and vascular inflammation and to predict future cardiovascular events. The objective of this study was to evaluate the prognostic value of CRP in predicting cardiovascular outcome in patients presenting with acute coronary syndromes. Patients and Methods: This prospective, single-centered study was carried out by the Department of Pathology in collaboration with the Department of Cardiology, Bolan Medical College Complex Quetta, Balochistan, Pakistan from January 2009 to December 2009. We studied 963 consecutive patients presenting with chest pain to Accident and Emergency Department. Patients were divided into four groups. Group-1 comprised patients with unstable angina; group-2 included patients with acute ST elevation myocardial infarction (STEMI); group-3 comprised patients with Non-ST elevation myocardial infarction (Non-STEMI) and group-4 was the control group. All four groups were followed-up for 90 days for occurrence of cardiovascular events. Results: The CRP was elevated (>3 mg/L) among 27.6% patients in Group-1; 70.9% in group- 2; 77.9% in group-3 and 5.3% in the control group. Among cases with elevated CRP, 92.1% had a cardiac event compared to 34.3% among patients with CRP £3 mg/L (P < 0.0001). The mortality was significantly higher (P < 0.0001) in group-2 (8.9%) and group-3 (11.9%) as compared to group-1 (2.1%). There was no cardiac event or mortality in Group-4. Conclusions: Elevated CRP is a predictor of adverse outcome in patients with acute coronary syndromes and helps in identifying patients who may be at risk of cardiovascular complications. PMID:22754634

Guidelines for antimicrobial prophylaxis.

PubMed

Nahata, M C

1996-08-01

Antimicrobials are frequently used to prevent infections. Principles of prophylaxis, and antimicrobial prophylaxis in surgery, tuberculosis, acquired immunodeficiency syndrome, influenza A, traveller's diarrhoea, malaria, recurrent otitis media, Haemophilus influenzae type b infection, pertussis, rheumatic fever, and urinary tract infection are described. Various strategies to improve the prophylactic use of antibiotics are discussed. Collaborative efforts among health care disciplines are needed to assure optimal antimicrobial prophylaxis. This should maximize efficacy and minimize adverse effects, the development of bacterial resistance and associated costs.

Pursuing Precision Speech-Language Therapy Services for Children with Down Syndrome.

PubMed

McDaniel, Jena; Yoder, Paul J

2016-11-01

The behavioral phenotype of individuals with Down syndrome (DS) offers one avenue for developing speech-language therapy services that are tailored to the individual's characteristics that affect treatment response. Behavioral phenotypes are patterns of behavioral strengths and weaknesses for specific genetic disorders that can help guide the development and implementation of effective interventions. Nonetheless, individual differences within children with DS must be acknowledged and addressed because behavioral phenotypes are probabilistic, not deterministic. Developing precision speech-language therapy services to maximize learning opportunities and outcomes for children with DS calls for increased collaboration among clinicians and researchers to address the needs, challenges, and opportunities on three interconnected themes: (1) moving effective interventions from research to practice, (2) making evidence-based, child-specific treatment intensity decisions, and (3) considering child motivation and temperament characteristics. Increased availability of intervention materials and resources as well as more specific recommendations that acknowledge individual differences could help narrow the research-practice gap. Clear descriptions of disciplined manipulations of treatment intensity components could lead to more effective intervention services. Last, addressing motivation and temperament characteristics, such as the personality-motivation orientation, in children with DS may help maximize learning opportunities. Focused attention and collaboration on these key themes could produce substantial, positive changes for children with DS and their families in the coming decade. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Investigating white-nose syndrome in bats

USGS Publications Warehouse

Blehert, David S.

2009-01-01

A devastating, emergent disease afflicting hibernating bats has pread from the northeast to the mid-Atlantic region of the United States at an alarming rate. Since the winter of 2006-2007, hundreds of thousands of insect-eating bats from at least nine states have died from this new disease, named White-Nose Syndrome (WNS). The disease is named for the white fungus often seen on the muzzles, ears, and wings of bats. This disease poses a threat to cave hibernating bats of the United States and potentially all temperate regions of the world. USGS scientists from the National Wildlife Health Center (NWHC) and the Fort Collins Science Center (FORT), in collaboration with the New York State Department of Environmental Conservation, the U.S. Fish and Wildlife Service, and others have linked a newly described, cold-loving fungus to WNS.

Systemic Lupus Erythematosus: Definitions, Contexts, Conflicts, Enigmas

PubMed Central

Rekvig, Ole Petter

2018-01-01

Systemic lupus erythematosus (SLE) is an inadequately defined syndrome. Etiology and pathogenesis remain largely unknown. SLE is on the other hand a seminal syndrome that has challenged immunologists, biologists, genetics, and clinicians to solve its nature. The syndrome is characterized by multiple, etiologically unlinked manifestations. Unexpectedly, they seem to occur in different stochastically linked clusters, although single gene defects may promote a smaller spectrum of symptoms/criteria typical for SLE. There is no known inner coherence of parameters (criteria) making up the disease. These parameters are, nevertheless, implemented in The American College of Rheumatology (ACR) and The Systemic Lupus Collaborating Clinics (SLICC) criteria to classify SLE. Still, SLE is an abstraction since the ACR or SLICC criteria allow us to define hundreds of different clinical SLE phenotypes. This is a major point of the present discussion and uses “The anti-dsDNA antibody” as an example related to the problematic search for biomarkers for SLE. The following discussion will show how problematic this is: the disease is defined through non-coherent classification criteria, its complexity is recognized and accepted, its pathogenesis is plural and poorly understood. Therapy is focused on dominant symptoms or organ manifestations, and not on the syndrome itself. From basic scientific evidences, we can add substantial amount of data that are not sufficiently considered in clinical medicine, which may change the paradigms linked to what “The Anti-DNA antibody” is—and is not—in context of the imperfectly defined syndrome SLE. PMID:29545801

Investigation of a Guillain-Barré syndrome cluster in the Republic of Fiji.

PubMed

Pastula, Daniel M; Khan, Aalisha Sahu; Sharp, Tyler M; Biaukula, Viema L; Naivalu, Taina K; Rafai, Eric; Ermias Belay; Staples, J Erin; Fischer, Marc; Kosoy, Olga I; Laven, Janeen J; Bennett, Elizabeth J; Jenney, Adam W J; Naidu, Ravi Narayan; Lanciotti, Robert S; Galloway, Renee L; Nilles, Eric J; Sejvar, James J; Kama, Mike

2017-01-15

In 2014, we investigated a cluster of Guillain-Barre syndrome (GBS) in Fiji that occurred during a dengue epidemic. We designed a case-control study to determine the etiology. Cases were patients meeting Brighton Collaboration criteria for GBS with onset from February 2014 to May 2014. Controls were persons without symptoms of GBS who were matched by age group and location. We collected information on demographics and potential exposures. Serum samples were tested for evidence of recent arboviral or Leptospira spp. infections. Nine cases of GBS were identified for an incidence of five cases per 100,000 population/year. Median age of cases was 27years (range: 0.8-52); five (56%) were male. Six (67%) reported an acute illness prior to GBS onset. Among the 9 cases and 28 controls enrolled, odds ratios for reported exposures or antibodies against various arboviruses or Leptospira spp. were not statistically significant. No clear etiologies were identified for this unusual GBS cluster. There was a temporal association between the GBS cluster and a dengue epidemic, but we were unable to substantiate an epidemiologic or laboratory association. Further study is needed to explore potential associations between arboviral infections and GBS. Copyright © 2016. Published by Elsevier B.V.

New pulmonary infiltrates in a 19 year-old with sickle cell crisis.

PubMed

Islam, Tasbirul; Usman, Md Haris Umer; Rahman, Fahd

2005-10-01

Sickle cell anemia (SCA) is the most common inherited blood disorder. Sickle cell crisis is characterized by episodes of pain, chronic hemolytic anemia and severe infections, usually beginning in early childhood. Sickle cell disease primarily affects those of African descent and Hispanics of Caribbean ancestry, but the trait has also been found in those with Middle Eastern, Indian, Latin American, Native American, and Mediterranean heritage. Recent studies indicate that more than 12,500 people in England have sickle cell disorders. The acute chest syndrome is the leading cause of death and the second most common cause of hospitalization among patients with sickle cell disease. The acute chest syndrome (ACS) is characterized by chest pain with dyspnea and recent radiological abnormalities. Since its cause is largely unknown, rapid recognition and early institution of therapy is paramount as with timely and appropriate intervention majority of these patients survive. The treatment of ACS rests on controlled hydration, antibiotic therapy, oxygen therapy, controlled analgesic therapy, blood transfusion and exchange transfusion. A better understanding of the disease and a close collaborative approach between a primary care physician and a specialist may be the key to improve the quality of care rendered. Research studies, review articles, and published scientific meeting abstracts were reviewed.

Metabolic syndrome in Iranian patients with systemic lupus erythematosus and its determinants.

PubMed

Fatemi, Alimohammad; Ghanbarian, Azadeh; Sayedbonakdar, Zahra; Kazemi, Mehdi; Smiley, Abbas

2018-06-01

The aim of this study was to determine the prevalence of metabolic syndrome (MetS) in Iranian patients with systemic lupus erythematosus (SLE) and its determinants. In a cross-sectional study, 98 patients with SLE and 95 controls were enrolled. Prevalence of MetS was determined based on American Heart Association and National Heart, Lung, and Blood Institute (AHA/NHLBI) and 2009 harmonizing criteria. In addition, demographic features and lupus characteristics such as disease duration, pharmacological treatment, laboratory data, SLE disease activity index (SLEDAI), and Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage index (SDI) were recorded. The predictors of MetS were obtained by backward stepwise regression analysis. Using AHA/NHLBI, MetS was observed in 35 (35.7%) patients and 28 (29.8%) controls (P = 0.4). Using harmonizing criteria, MetS was observed in 37 (37.7%) patients and 33 (35.1%) controls (P = 0.7). There was no difference in frequency distribution of MetS components between the patients and the controls. In multivariate regression analysis, low C3, blood urea nitrogen (BUN), and body mass index were independent determinants of MetS in lupus patients. BUN, low C3, and body mass index were the major determinants of MetS in lupus patients.

Prader-Willi syndrome mental health research strategy workshop proceedings: the state of the science and future directions.

PubMed

Schwartz, Lauren; Holland, Anthony; Dykens, Elisabeth; Strong, Theresa; Roof, Elizabeth; Bohonowych, Jessica

2016-09-29

This paper reports on the 'Prader-Willi Syndrome (PWS) Mental Health Research Strategy Workshop' that took place in March 2015. PWS is characterized by a complex phenotype affecting multiple systems with a high prevalence of maladaptive behaviours, and neuropsychiatric illness. Prader Willi syndrome results from the absence of paternally derived alleles located at the imprinted chromosomal locus, 15q11-13. The goal of the workshop was to highlight the state of the science of the mental health of people with this rare neurodevelopmental disorder. Mental ill health and maladaptive behaviors significantly impact quality of life for persons with PWS and their caregivers. Effective treatments and further research into this area are critically needed. A multidisciplinary group of scientists and health care professionals were brought together to discuss the mental health and behavioral needs of people with PWS. The workshop strategy was to integrate established work on PWS with other relevant areas of study. The meeting also focused on two neurobiological systems that research had suggested were relevant to understanding the broader mental health aspects of PWS: the autonomic nervous system and oxytocin/vasopressin pathways. Other relevant topics were considered and recommendations made. The workshop presentations and working group discussions revealed that no one approach was sufficient to fully conceptualize the mental health challenges in PWS. Workshop discussions pointed to the need for theoretically informed studies focused on clinical characterization, measurement, and the probing of specific neurobiological systems through pharmaceutical or other interventions. Future studies in this area should explore the use of advanced neuroimaging protocols, as well as molecular studies using iPS cells in order to create more informed theories. Within this framework, workshop participants identified and prioritized key research questions, and highlighted current opportunities. Recommendations were made with respect to the development of specific resources and tools for furthering mental health research such as The Global PWS Registry, the development of effective endpoints, the use of animal models and iPS cells to aid understanding of the neurobiological underpinnings. Additionally, collaborative opportunities across disciplines and syndromes were highlighted and targeted research initiatives focused on psychological/behavioral interventions modified for use in PWS were recommended.

Heart transplantation in patients with eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome).

PubMed

Groh, Matthieu; Masciocco, Gabriella; Kirchner, Elizabeth; Kristen, Arnt; Pellegrini, Carlo; Varnous, Shaïda; Bortman, Guillermo; Rosenberg, Mark; Brucato, Antonio; Waterworth, Paul; Bonacina, Edgardo; Facchetti, Fabio; Calabrese, Leonard; Gregorini, Gina; Scali, Juan Jose; Starling, Randall; Frigerio, Maria; D'Armini, Andrea Maria; Guillevin, Loïc

2014-08-01

Heart involvement is the leading cause of death of patients with eosinophilic granulomatosis with polyangiitis (EGPA; formerly Churg-Strauss syndrome) and is more frequent in anti-neutrophil cytoplasm antibody (ANCA)-negative patients. Post-transplant outcome has only been reported once. We conducted a retrospective international multicenter study. Patients satisfying the criteria of the American College of Rheumatology and/or revised Chapel Hill Consensus Conference Nomenclature were identified by collaborating vasculitis and transplant specialists, and the help of the Churg-Strauss Syndrome Association. Nine ANCA(-) patients who received transplants between October 1987 and December 2009 were identified. The vasculitis and cardiomyopathy diagnoses were concomitant for 5 patients and separated by 12 to 288 months for the remaining 4 patients. Despite ongoing immunosuppression, histologic examination of 7 (78%) patients' explanted hearts showed histologic patterns suggestive of active vasculitis. The overall 5-year survival rate was low (57%), but rose to 80% when considering only the 6 patients transplanted during the last decade. After survival lasting 3 to 60 months, 4 (44%) patients died sudden deaths. The search for EGPA-related cardiomyopathy is mandatory early in the course of this type of vasculitis. Indeed, prompt treatment with corticosteroids and cyclophosphamide may achieve restore cardiac function. Most patients in this series were undertreated. For patients with refractory EGPA, heart transplantation should be performed, which carries a fair prognosis. No optimal immunosuppressive strategy has yet been identified. Copyright © 2014 International Society for Heart and Lung Transplantation. All rights reserved.

DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study

PubMed Central

Palomaki, Glenn E.; Deciu, Cosmin; Kloza, Edward M.; Lambert-Messerlian, Geralyn M.; Haddow, James E.; Neveux, Louis M.; Ehrich, Mathias; van den Boom, Dirk; Bombard, Allan T.; Grody, Wayne W.; Nelson, Stanley F.; Canick, Jacob A.

2012-01-01

Purpose: To determine whether maternal plasma cell–free DNA sequencing can effectively identify trisomy 18 and 13. Methods: Sixty-two pregnancies with trisomy 18 and 12 with trisomy 13 were selected from a cohort of 4,664 pregnancies along with matched euploid controls (including 212 additional Down syndrome and matched controls already reported), and their samples tested using a laboratory-developed, next-generation sequencing test. Interpretation of the results for chromosome 18 and 13 included adjustment for CG content bias. Results: Among the 99.1% of samples interpreted (1,971/1,988), observed trisomy 18 and 13 detection rates were 100% (59/59) and 91.7% (11/12) at false-positive rates of 0.28% and 0.97%, respectively. Among the 17 samples without an interpretation, three were trisomy 18. If z-score cutoffs for trisomy 18 and 13 were raised slightly, the overall false-positive rates for the three aneuploidies could be as low as 0.1% (2/1,688) at an overall detection rate of 98.9% (280/283) for common aneuploidies. An independent academic laboratory confirmed performance in a subset. Conclusion: Among high-risk pregnancies, sequencing circulating cell–free DNA detects nearly all cases of Down syndrome, trisomy 18, and trisomy 13, at a low false-positive rate. This can potentially reduce invasive diagnostic procedures and related fetal losses by 95%. Evidence supports clinical testing for these aneuploidies. PMID:22281937

Precision medicine in pheochromocytoma and paraganglioma: current and future concepts.

PubMed

Björklund, P; Pacak, K; Crona, J

2016-12-01

Pheochromocytoma and paraganglioma (PPGL) are rare diseases but are also amongst the most characterized tumour types. Hence, patients with PPGL have greatly benefited from precision medicine for more than two decades. According to current molecular biology and genetics-based taxonomy, PPGL can be divided into three different clusters characterized by: Krebs cycle reprogramming with oncometabolite accumulation or depletion (group 1a); activation of the (pseudo)hypoxia signalling pathway with increased tumour cell proliferation, invasiveness and migration (group 1b); and aberrant kinase signalling causing a pro-mitogenic and anti-apoptotic state (group 2). Categorization into these clusters is highly dependent on mutation subtypes. At least 12 different syndromes with distinct genetic causes, phenotypes and outcomes have been described. Genetic screening tests have a documented benefit, as different PPGL syndromes require specific approaches for optimal diagnosis and localization of various syndrome-related tumours. Genotype-tailored treatment options, follow-up and preventive care are being investigated. Future new developments in precision medicine for PPGL will mainly focus on further identification of driver mechanisms behind both disease initiation and malignant progression. Identification of novel druggable targets and prospective validation of treatment options are eagerly awaited. To achieve these goals, we predict that collaborative large-scale studies will be needed: Pheochromocytoma may provide an example for developing precision medicine in orphan diseases that could ultimately aid in similar efforts for other rare conditions. © 2016 The Association for the Publication of the Journal of Internal Medicine.

BHD Tumor Cell Line and Renal Cell Carcinoma Line | NCI Technology Transfer Center | TTC

Cancer.gov

Scientists at the National Cancer Institute  have developed a novel renal cell carcinoma (RCC) cell line designated UOK257, which was derived from the surgical kidney tissue of a patient with hereditary Birt-Hogg-Dube''''(BHD) syndrome and companion cell line UOK257-2 in which FLCN expression has been restored by lentivirus infection. The NCI Urologic Oncology Branch seeks parties interested in licensing or collaborative research to co-develop, evaluate, or commercialize kidney cancer tumor cell lines.

Utilization of mechanical diagnosis and therapy (MDT) for the treatment of lumbar pain in the presence of known lumbar transverse process fractures: a case study

PubMed Central

Elenburg, J. L.; Foley, B. S.; Roberts, K.; Bayliss, A. J.

2016-01-01

Background Spinal fractures are typically considered a contraindication to mechanical diagnosis and therapy (MDT). Objective and importance The purpose of this case study is to illustrate how MDT was used safely and effectively to treat lumbar pain in a patient with multiple lumbar transverse process fractures. Clinical presentation The subject was a 24-year-old female with left L2-5 transverse process fractures, sustained 10 weeks prior in a pedestrian versus motor vehicle accident. Intervention (and technique) After collaboration with her physiatrist, an MDT examination revealed a presentation consistent with the lumbar derangement syndrome. Conclusion After three visits, utilizing patient generated forces with the extension principle of treatment, her pain, Oswestry disability index (ODI) score, and function all improved. PMID:27559276

Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention.

PubMed

Goldman, Alica M; Behr, Elijah R; Semsarian, Christopher; Bagnall, Richard D; Sisodiya, Sanjay; Cooper, Paul N

2016-01-01

Epidemiologic studies clearly document the public health burden of sudden unexpected death in epilepsy (SUDEP). Clinical and experimental studies have uncovered dynamic cardiorespiratory dysfunction, both interictally and at the time of sudden death due to epilepsy. Genetic analyses in humans and in model systems have facilitated our current molecular understanding of SUDEP. Many discoveries have been informed by progress in the field of sudden cardiac death and sudden infant death syndrome. It is becoming apparent that SUDEP genomic complexity parallels that of sudden cardiac death, and that there is a pauci1ty of analytically useful postmortem material. Because many challenges remain, future progress in SUDEP research, molecular diagnostics, and prevention rests in international, collaborative, and transdisciplinary dialogue in human and experimental translational research of sudden death. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

The Collaborative Randomised Amnioinfusion for Meconium Project (CRAMP): 2. Zimbabwe.

PubMed

Mahomed, K; Mulambo, T; Woelk, G; Hofmeyr, G J; Gülmezoğlu, A M

1998-03-01

To evaluate transcervical amnioinfusion for meconium stained amniotic fluid during labour. Multicentre randomised controlled trial. A large urban academic hospital. Electronic fetal heart rate monitoring was not used. Women in labour at term with moderate or thick meconium staining of the amniotic fluid. Transcervical amnioinfusion of 500 mL saline over 30 minutes, then 500 mL at 30 drops per minute. The control group received routine care. Blinding of the intervention was not possible. Caesarean section, meconium aspiration syndrome and perinatal mortality. There was no difference in risk for caesarean section in the two groups (amnioinfusion 9.5% vs control 12.3%; RR 0.84, 95% CI 0.53-1.32). Meconium aspiration syndrome was significantly less frequent in the amnioinfusion group (3.1% vs 12.8%; RR 0.24, 95% CI 0.12-0.48), and there was a trend towards fewer perinatal deaths (1.2% vs 3.6%; RR 0.34, 95% CI 0.11-1.06). Amnioinfusion is technically feasible in a developing country situation with limited intrapartum facilities. In this study amnioinfusion for meconium stained amniotic fluid was associated with striking improvements in perinatal outcome.

Potential Acceptability of a Pediatric Ventilator Management Computer Protocol.

PubMed

Sward, Katherine A; Newth, Christopher J L; Khemani, Robinder G; Page, Kent; Meert, Kathleen L; Carcillo, Joseph A; Shanley, Thomas P; Moler, Frank W; Pollack, Murray M; Dalton, Heidi J; Wessel, David L; Berger, John T; Berg, Robert A; Harrison, Rick E; Doctor, Allan; Dean, J Michael; Holobkov, Richard; Jenkins, Tammara L; Nicholson, Carol E

2017-11-01

To examine issues regarding the granularity (size/scale) and potential acceptability of recommendations in a ventilator management protocol for children with pediatric acute respiratory distress syndrome. Survey/questionnaire. The eight PICUs in the Collaborative Pediatric Critical Care Research Network. One hundred twenty-two physicians (attendings and fellows). None. We used an online questionnaire to examine attitudes and assessed recommendations with 50 clinical scenarios. Overall 80% of scenario recommendations were accepted. Acceptance did not vary by provider characteristics but did vary by ventilator mode (high-frequency oscillatory ventilation 83%, pressure-regulated volume control 82%, pressure control 75%; p = 0.002) and variable adjusted (ranging from 88% for peak inspiratory pressure and 86% for FIO2 changes to 69% for positive end-expiratory pressure changes). Acceptance did not vary based on child size/age. There was a preference for smaller positive end-expiratory pressure changes but no clear granularity preference for other variables. Although overall acceptance rate for scenarios was good, there was little consensus regarding the size/scale of ventilator setting changes for children with pediatric acute respiratory distress syndrome. An acceptable protocol could support robust evaluation of ventilator management strategies. Further studies are needed to determine if adherence to an explicit protocol leads to better outcomes.

Relevance of the Measles Virus Expression in Cancer - an Update.

PubMed

Benharroch, Daniel; Ariad, Samuel; Tadmor, Noa; Nalbandyan, Karen; Lazarev, Irena

2016-10-01

Evidence of an association between classical Hodgkin lymphoma and the measles virus has previously been presented by our group. Arguments held against our thesis were reevaluated. Substantiation of a relationship between the measles virus and additional solid tumors was submitted. Moreover, a pathogenic pathway was suggested to support a possible contribution of the measles virus to the development of classical Hodgkin lymphoma. We have chosen to exclude a discussion of measles virotherapy, since this carries distinct implications. We now add new evidence regarding the expression of the measles virus phosphoprotein in a few cancers. We also suggest a role in this context for atypical measles syndrome in malignant tumors. Last, we propose a collaboration which may make the best, on the one hand of our cohort of classical Hodgkin lymphoma, half of which carry the measles virus expression in their tumor cells. The planned study will also look into the patients vaccination records and into a previous history of the measles disease. On the other hand, cohorts of patients diagnosed with late onset measles will be assessed for the eventual diagnosis of atypical measles syndrome and will be followed up for the subsequent development of a malignant tumor.

Curing genetic disease with gene therapy.

PubMed

Williams, David A

2014-01-01

Development of viral vectors that allow high efficiency gene transfer into mammalian cells in the early 1980s foresaw the treatment of severe monogenic diseases in humans. The application of gene transfer using viral vectors has been successful in diseases of the blood and immune systems, albeit with several curative studies also showing serious adverse events (SAEs). In children with X-linked severe combined immunodeficiency (SCID-X1), chronic granulomatous disease, and Wiskott-Aldrich syndrome, these SAEs were caused by inappropriate activation of oncogenes. Subsequent studies have defined the vector sequences responsible for these transforming events. Members of the Transatlantic Gene Therapy Consortium [TAGTC] have collaboratively developed new vectors that have proven safer in preclinical studies and used these vectors in new clinical trials in SCID-X1. These trials have shown evidence of early efficacy and preliminary integration analysis data from the SCID-X1 trial suggest an improved safety profile.

Curing Genetic Disease with Gene Therapy

PubMed Central

Williams, David A.

2014-01-01

Development of viral vectors that allow high efficiency gene transfer into mammalian cells in the early 1980s foresaw the treatment of severe monogenic diseases in humans. The application of gene transfer using viral vectors has been successful in diseases of the blood and immune systems, albeit with several curative studies also showing serious adverse events (SAEs). In children with X-linked severe combined immunodeficiency (SCID-X1), chronic granulomatous disease, and Wiskott-Aldrich syndrome, these SAEs were caused by inappropriate activation of oncogenes. Subsequent studies have defined the vector sequences responsible for these transforming events. Members of the Transatlantic Gene Therapy Consortium [TAGTC] have collaboratively developed new vectors that have proven safer in preclinical studies and used these vectors in new clinical trials in SCID-X1. These trials have shown evidence of early efficacy and preliminary integration analysis data from the SCID-X1 trial suggest an improved safety profile. PMID:25125725

Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome.

PubMed

Ousley, Opal; Evans, A Nichole; Fernandez-Carriba, Samuel; Smearman, Erica L; Rockers, Kimberly; Morrier, Michael J; Evans, David W; Coleman, Karlene; Cubells, Joseph

2017-05-18

22q11.2 deletion syndrome (22q11.2DS) is a genomic disorder reported to associate with autism spectrum disorders (ASDs) in 15-50% of cases; however, others suggest that individuals with 22q11.2DS present psychiatric or behavioral features associated with ASDs, but do not meet full criteria for ASD diagnoses. Such wide variability in findings may arise in part due to methodological differences across studies. Our study sought to determine whether individuals with 22q11.2DS meet strict ASD diagnostic criteria using research-based guidelines from the Collaborative Programs of Excellence in Autism (CPEA), which required a gathering of information from three sources: the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observational Schedule (ADOS), and a clinician's best-estimate diagnosis. Our study examined a cohort of children, adolescents, and young adults ( n = 56) with 22q11.2DS, who were ascertained irrespective of parents' behavioral or developmental concerns, and found that 17.9% ( n = 10) of the participants met CPEA criteria for an ASD diagnosis, and that a majority showed some level of social-communication impairment or the presence of repetitive behaviors. We conclude that strictly defined ASDs occur in a substantial proportion of individuals with 22q11.2DS, and recommend that all individuals with 22q11.2DS be screened for ASDs during early childhood.

Health services for reproductive tract infections among female migrant workers in industrial zones in Ha Noi, Viet Nam: an in-depth assessment

PubMed Central

2012-01-01

Background Rural-to-urban migration involves a high proportion of females because job opportunities for female migrants have increased in urban industrial areas. Those who migrate may be healthier than those staying in the village and they may benefit from better health care services at destination, but the 'healthy' effect can be reversed at destination due to migration-related health risk factors. The study aimed to explore the need for health care services for reproductive tract infections (RTIs) among female migrants working in the Sai Dong industrial zone as well as their services utilization. Methods The cross sectional study employed a mixed method approach. A cohort of 300 female migrants was interviewed to collect quantitative data. Two focus groups and 20 in-depth interviews were conducted to collect qualitative data. We have used frequency and cross-tabulation techniques to analyze the quantitative data and the qualitative data was used to triangulate and to provide more in-depth information. Results The needs for health care services for RTI were high as 25% of participants had RTI syndromes. Only 21.6% of female migrants having RTI syndromes ever seek helps for health care services. Barriers preventing migrants to access services were traditional values, long working hours, lack of information, and high cost of services. Employers had limited interests in reproductive health of female migrants, and there was ineffective collaboration between the local health system and enterprises. These barriers were partly caused by lack of health promotion programs suitable for migrants. Most respondents needed more information on RTIs and preferred to receive these from their employers since they commonly work shifts - and spend most of their day time at work. Conclusion While RTIs are a common health problem among female migrant workers in industrial zones, female migrants had many obstacles in accessing RTI care services. The findings from this study will help to design intervention models for RTI among this vulnerable group such as communication for behavioural impact of RTI health care, fostered collaboration between local health care services and employer enterprises, and on-site service (e.g. local or enterprise health clinics) strengthening. PMID:22369718

Juvenile Idiopathic Arthritis in the Era of International Cooperation.

PubMed

Uziel, Yosef

2017-01-30

Juvenile idiopathic arthritis (JIA) is the most common chronic disease of childhood. Improved understanding of its pathogenesis has led to international cooperation in clinical studies. Multicenter, international collaborations and research facilitate rapid enrollment of enough patients to enable a variety of studies, including those of epidemiology, diagnostic and classification criteria, genetic disease predisposition, pathogenesis, outcomes, and treatment protocols. In the last 20 years, the vision of the Pediatric Rheumatology International Trial Organization (PRINTO) has become a reality of worldwide collaboration in pediatric rheumatology research, including North American and European research groups. Major advances have been made in treating systemic JIA and its main complication, macrophage-activating syndrome (MAS). Single Hub and Access Point to Pediatric Rheumatology in Europe (SHARE) is a project of the European Society of Pediatric Rheumatology with the goal of improving clinical care. Based on evidence in the scientific literature, position papers regarding optimal clinical approaches and care have been published. Formal, validated assessment tools to evaluate response to treatment have been developed. Recommendations have been established to encourage international research collaborations, especially in light of major advances achieved in the genetics of pediatric rheumatologic diseases and the need to share biological samples among different countries and continents. Every participating country has disease information available for patients and families. Additionally, educational programs and updated syllabi for pediatric rheumatology have been written to promote similar, high-level academic training in different countries. These efforts have resulted in significant improvements in treatment and in patient prognosis. However, improved cooperation is needed to enhance research with biological and genetic samples. The Israeli Research Group for Pediatric Rheumatology is very active and has made significant contributions to the field.

CDC's Early Response to a Novel Viral Disease, Middle East Respiratory Syndrome Coronavirus (MERS-CoV), September 2012-May 2014.

PubMed

Williams, Holly Ann; Dunville, Richard L; Gerber, Susan I; Erdman, Dean D; Pesik, Nicki; Kuhar, David; Mason, Karen A; Haynes, Lia; Rotz, Lisa; St Pierre, Jeanette; Poser, Sarah; Bunga, Sudhir; Pallansch, Mark A; Swerdlow, David L

2015-01-01

The first ever case of Middle East Respiratory Syndrome Coronavirus (MERS-CoV) was reported in September 2012. This report describes the approaches taken by CDC, in collaboration with the World Health Organization (WHO) and other partners, to respond to this novel virus, and outlines the agency responses prior to the first case appearing in the United States in May 2014. During this time, CDC's response integrated multiple disciplines and was divided into three distinct phases: before, during, and after the initial activation of its Emergency Operations Center. CDC's response to MERS-CoV required a large effort, deploying at least 353 staff members who worked in the areas of surveillance, laboratory capacity, infection control guidance, and travelers' health. This response built on CDC's experience with previous outbreaks of other pathogens and provided useful lessons for future emerging threats.

CDC's Early Response to a Novel Viral Disease, Middle East Respiratory Syndrome Coronavirus (MERS-CoV), September 2012–May 2014

PubMed Central

Dunville, Richard L.; Gerber, Susan I.; Erdman, Dean D.; Pesik, Nicki; Kuhar, David; Mason, Karen A.; Haynes, Lia; Rotz, Lisa; St. Pierre, Jeanette; Poser, Sarah; Bunga, Sudhir; Pallansch, Mark A.; Swerdlow, David L.

2015-01-01

The first ever case of Middle East Respiratory Syndrome Coronavirus (MERS-CoV) was reported in September 2012. This report describes the approaches taken by CDC, in collaboration with the World Health Organization (WHO) and other partners, to respond to this novel virus, and outlines the agency responses prior to the first case appearing in the United States in May 2014. During this time, CDC's response integrated multiple disciplines and was divided into three distinct phases: before, during, and after the initial activation of its Emergency Operations Center. CDC's response to MERS-CoV required a large effort, deploying at least 353 staff members who worked in the areas of surveillance, laboratory capacity, infection control guidance, and travelers' health. This response built on CDC's experience with previous outbreaks of other pathogens and provided useful lessons for future emerging threats. PMID:26345122

Fanconi anemia and the development of leukemia.

PubMed

Alter, Blanche P

2014-01-01

Fanconi anemia (FA) is a rare autosomal recessive cancer-prone inherited bone marrow failure syndrome, due to mutations in 16 genes, whose protein products collaborate in a DNA repair pathway. The major complications are aplastic anemia, acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), and specific solid tumors. A severe subset, due to mutations in FANCD1/BRCA2, has a cumulative incidence of cancer of 97% by age 7 years; the cancers are AML, brain tumors, and Wilms tumor; several patients have multiple events. Patients with the other genotypes (FANCA through FANCQ) have cumulative risks of more than 50% of marrow failure, 20% of AML, and 30% of solid tumors (usually head and neck or gynecologic squamous cell carcinoma), by age 40, and they too are at risk of multiple adverse events. Hematopoietic stem cell transplant may cure AML and MDS, and preemptive transplant may be appropriate, but its use is a complicated decision. Published by Elsevier Ltd.

Advances in the Management of Meconium Aspiration Syndrome

PubMed Central

Swarnam, Kamala; Soraisham, Amuchou S.; Sivanandan, Sindhu

2012-01-01

Meconium aspiration syndrome (MAS) is a common cause of severe respiratory distress in term infants, with an associated highly variable morbidity and mortality. MAS results from aspiration of meconium during intrauterine gasping or during the first few breaths. The pathophysiology of MAS is multifactorial and includes acute airway obstruction, surfactant dysfunction or inactivation, chemical pneumonitis with release of vasoconstrictive and inflammatory mediators, and persistent pulmonary hypertension of newborn (PPHN). This disorder can be life threatening, often complicated by respiratory failure, pulmonary air leaks, and PPHN. Approaches to the prevention of MAS have changed over time with collaboration between obstetricians and pediatricians forming the foundations for care. The use of surfactant and inhaled nitric oxide (iNO) has led to the decreased mortality and the need for extracorporeal membrane oxygenation (ECMO) use. In this paper, we review the current understanding of the pathophysiology and management of MAS. PMID:22164183

Tourette syndrome in children and adolescents: special considerations.

PubMed

Eapen, Valsamma; Crncec, Rudi

2009-12-01

Tourette syndrome (TS) affects people of all ages, with onset in early childhood and continuing through the different stages of the life cycle into adolescence and adults. This review focuses on barriers to diagnosis and challenges in the management of young patients with TS. Barriers to identification occur at multiple levels, including detection in the community setting (including schools), parents' help-seeking behavior, and cultural influences on such behavior, as well as diagnosis by the medical provider. Challenges to management include unfamiliarity of primary care providers, inconsistencies in the diagnosis and management plan, and failure to recognize comorbid conditions, as well as inadequate knowledge and lack of resources to effectively deal with comorbidities. In addition to the complexities posed by pharmacological interactions, there are unique psychosocial challenges experienced by young people with TS and their families. Effective communication and collaboration between families, health care providers, and school personnel, as well as supportive communities, are essential components of comprehensive management.

Diagnosis and Treatment of Lower Extremity Deep Vein Thrombosis: Korean Practice Guidelines

PubMed Central

Min, Seung-Kee; Kim, Young Hwan; Joh, Jin Hyun; Kang, Jin Mo; Park, Ui Jun; Kim, Hyung-Kee; Chang, Jeong-Hwan; Park, Sang Jun; Kim, Jang Yong; Bae, Jae Ik; Choi, Sun Young; Kim, Chang Won; Park, Sung Il; Yim, Nam Yeol; Jeon, Yong Sun; Yoon, Hyun-Ki; Park, Ki Hyuk

2016-01-01

Lower extremity deep vein thrombosis is a serious medical condition that can result in death or major disability due to pulmonary embolism or post-thrombotic syndrome. Appropriate diagnosis and treatment are required to improve symptoms and salvage the affected limb. Early thrombus clearance rapidly resolves symptoms related to venous obstruction, restores valve function and reduces the incidence of post-thrombotic syndrome. Recently, endovascular treatment has been established as a standard method for early thrombus removal. However, there are a variety of views regarding the indications and procedures among medical institutions and operators. Therefore, we intend to provide evidence-based guidelines for diagnosis and treatment of lower extremity deep vein thrombosis by multidisciplinary consensus. These guidelines are the result of a close collaboration between interventional radiologists and vascular surgeons. The goals of these guidelines are to improve treatment, to serve as a guide to the clinician, and consequently to contribute to public health care. PMID:27699156

The Effectiveness of Exercise on Recovery and Clinical Outcomes in Patients With Soft Tissue Injuries of the Hip, Thigh, or Knee: A Systematic Review by the Ontario Protocol for Traffic Injury Management (OPTIMa) Collaboration.

PubMed

Brown, Courtney K; Southerst, Danielle; Côté, Pierre; Shearer, Heather M; Randhawa, Kristi; Wong, Jessica J; Yu, Hainan; Varatharajan, Sharanya; Sutton, Deborah; Stern, Paula J; D'Angelo, Kevin; Dion, Sarah; Cox, Jocelyn; Goldgrub, Rachel; Stupar, Maja; Carroll, Linda J; Taylor-Vaisey, Anne

2016-02-01

The purpose of this systematic review was to determine the effectiveness of exercise for the management of soft tissue injuries of the hip, thigh, and knee. We conducted a systematic review and searched MEDLINE, EMBASE, PsycINFO, the Cochrane Central Register of Controlled Trials, and CINAHL Plus with Full Text from January 1, 1990, to April 8, 2015, for randomized controlled trials (RCTs), cohort studies, and case-control studies evaluating the effect of exercise on pain intensity, self-rated recovery, functional recovery, health-related quality of life, psychological outcomes, and adverse events. Random pairs of independent reviewers screened titles and abstracts and assessed risk of bias using the Scottish Intercollegiate Guidelines Network criteria. Best evidence synthesis methodology was used. We screened 9494 citations. Eight RCTs were critically appraised, and 3 had low risk of bias and were included in our synthesis. One RCT found statistically significant improvements in pain and function favoring clinic-based progressive combined exercises over a "wait and see" approach for patellofemoral pain syndrome. A second RCT suggests that supervised closed kinetic chain exercises may lead to greater symptom improvement than open chain exercises for patellofemoral pain syndrome. One RCT suggests that clinic-based group exercises may be more effective than multimodal physiotherapy in male athletes with persistent groin pain. We found limited high-quality evidence to support the use of exercise for the management of soft tissue injuries of the lower extremity. The evidence suggests that clinic-based exercise programs may benefit patients with patellofemoral pain syndrome and persistent groin pain. Further high-quality research is needed. Copyright © 2016 National University of Health Sciences. Published by Elsevier Inc. All rights reserved.

Efficacy of Therapies for Postural Tachycardia Syndrome: A Systematic Review and Meta-analysis.

PubMed

Wells, Rachel; Elliott, Adrian D; Mahajan, Rajiv; Page, Amanda; Iodice, Valeria; Sanders, Prashanthan; Lau, Dennis H

2018-06-21

To identify the evidence base and evaluate the efficacy of each treatment for postural tachycardia syndrome (POTS) in light of a recent consensus statement highlighting the lack of treatment options with clear benefit to risk ratios for this debilitating condition. The CENTRAL (Cochrane Central Register of Controlled Trials), PubMed, and Embase databases from inception to May 2017 were searched using the terms postural AND tachycardia AND syndrome. A total of 135 full-text publications were screened after excluding duplicates (n=681), conference abstracts (n=467), and records that did not relate to POTS therapy (n=876). We included 28 studies with at least 4 patients with POTS in which symptomatic response was reported after more than 4 weeks of therapy. This review was performed according to the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) statement. Two investigators independently performed the data extraction and evaluated the quality of evidence. This study comprised 25 case series and 3 small randomized controlled trials that evaluated 755 and 103 patients with POTS, respectively. Interventions directed at increasing intravascular volume, increasing peripheral or splanchnic vascular tone, controlling heart rate, and increasing exercise tolerance demonstrate moderate efficacy (range, 51%-72%). Few data exist on their comparative effectiveness. Significant heterogeneities were seen in terms of patient age, symptom severity, and the measures used to evaluate treatment efficacy. The current evidence base to guide optimal management of patients with POTS is extremely limited. More high-quality collaborative research with standardized reporting of symptom response and treatment tolerability is urgently needed. Copyright © 2018 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

Sjögren's Syndrome: Oral Manifestations and Treatment, a Dental Perspective.

PubMed

Cartee, Deborah L; Maker, Shannon; Dalonges, Debra; Manski, Marion C

2015-12-01

Sjögren's syndrome is a systemic autoimmune disease affecting approximately 3 million Americans, primarily perimenopausal women. The syndrome is characterized by dysfunction and destruction of exocrine glands leading to oral and ocular manifestations, xerostomia and keratitis sicca. Sjögren's syndrome commonly remains either undiagnosed or is diagnosed years after the onset of symptoms. Diagnosis is based on the concurrent presence of various signs and symptoms of the disease as established by 6 diagnostic standards set by the American European Consensus Group standards: oral symptoms, ocular symptoms, evidence of oral signs, evidence of ocular dryness, evidence of salivary gland involvement with positive Anti-Ro/La autoantibodies and a positive gland biopsy. Currently no definitive test or cure exists; treatment is predominately palliative and supportive. With an aging population and heavier reliance on medications and treatments which cause xerostomia, oral health professionals are likely to encounter a higher incidence of xerostomia and Sjögren's syndrome more than ever before. The dental professional must recognize the signs and symptoms of xerostomia, include Sjögren's syndrome in their differential diagnosis, and communicate those findings and concerns to other health care providers, including the primary care physician, rheumatologist and ophthalmologist for evaluation in a timely fashion. This article discusses the dental professional's role in formulating a preventive oral health plan: meticulous oral hygiene instructions, dietary counseling, a complement of chemotherapeutic agents and more frequent recall care to avoid oral complications and improve quality of life. Dental hygienists can help patients understand the wide range of products available to substitute or stimulate salivary flow, prevent or remineralize early carious lesions and relieve candidal and bacterial infections. Ultimately this collaboration of care by the dental and medical professionals will benefit the Sjögren's syndrome patient and lead to better patient outcomes. Copyright © 2015 The American Dental Hygienists’ Association.

Health risk assessment of exposure to TriCresyl Phosphates (TCPs) in aircraft: a commentary.

PubMed

de Ree, Hans; van den Berg, Martin; Brand, Teus; Mulder, Gerard J; Simons, Ries; Veldhuijzen van Zanten, Brinio; Westerink, Remco H S

2014-12-01

Possible exposure to TriCresyl Phosphates (TCPs) has led to concerns among airline crew members. One isomer, Tri-ortho-Cresyl Phosphate (ToCP) is known to be neurotoxic and exposure to ToCP via contaminated cabin air has been suggested to be associated with the alleged Aerotoxic syndrome. The symptoms associated with Aerotoxic syndrome are diverse, including headaches, loss of balance, numbness and neurobehavioral abnormalities such as emotional instability, depression and cognitive dysfunction. Other ortho-isomers are toxic as well, but the non-ortho isomers are regarded as less toxic. In a collaborative effort to increase insight into the possible association between exposure to TCPs via contaminated cabin air and Aerotoxic syndrome, we performed an exposure- and toxicological risk assessment. Measurements in KLM 737 aircraft have demonstrated the presence of non-ortho isomers in low concentrations, though ToCP and other ortho-isomers could not be detected. Based on this exposure assessment, we established a toxicological risk model that also takes into account human differences in bioactivation and detoxification to derive a hazard quotient. From this model it appears unlikely that the health effects and alleged Aerotoxic syndrome are due to exposure to ToCP. Alternative explanations for the reported symptoms are discussed, but evaluation of the current findings in light of the criteria for occupational disease leads to the conclusion that the Aerotoxic Syndrome cannot be regarded as such. Additional research is thus required to unravel the underlying causes for the reported health complaints. Copyright © 2014 Elsevier Inc. All rights reserved.

Exploring the potential role of the advanced nurse practitioner within a care path for patients with chronic fatigue syndrome.

PubMed

Ryckeghem, Hannah; Delesie, Liesbeth; Tobback, Els; Lievens, Stefaan; Vogelaers, Dirk; Mariman, An

2017-07-01

To explore the experiences and expectations of patients with chronic fatigue syndrome and general practitioners to develop the potential role of an advanced nurse practitioner at the diagnostic care path of abnormal fatigue developed for regional transmural implementation in the Belgian provinces of East and West Flanders. Patients with chronic fatigue syndrome experience an incapacitating chronic fatigue that is present for at least 6 months. Since many uncertainties exist about the causes and progression of the disease, patients have to cope with disbelief and scepticism. Access to health care may be hampered, which could lead to inappropriate treatments and guidance. Qualitative design. Individual semi-structured interviews were conducted with patients with chronic fatigue syndrome and general practitioners in Belgium. Data were collected over 9 months in 2014-2015. All interviews were audio recorded and transcribed for qualitative analysis using open explorative thematic coding. Fifteen patients and 15 general practitioners were interviewed. Three themes were identified: mixed feelings with the diagnosis, lack of one central intermediator and insufficient coordination. Participants stressed the need for education, knowledge and an intermediator to provide relevant information at the right time and to build up a trust relationship. This qualitative exploration underscores some clear deficiencies in the guidance of patients suffering from chronic fatigue syndrome and abnormal fatigue. An advanced nurse practitioner as a central intermediator in the transmural care of these patients could promote interdisciplinary/multidisciplinary collaboration and effective communication, provide education and ensure a structured and coordinated approach. © 2016 John Wiley & Sons Ltd.

Consanguinity and dysmorphology in Arabs.

PubMed

Al-Gazali, Lihadh; Hamamy, Hanan

2014-01-01

Incidence rates of congenital disorders among the 350 million inhabitants of Arab countries could be influenced via the people's demographic and cultural characteristics. Arabs usually marry at a young age and have large families. They share certain core cultural values and beliefs, with the family accepted as the central structure of society. Consanguineous marriage is favored and respected in most if not all Arab communities, and intrafamilial unions currently account for 20-50% of all marriages. First-cousin unions are especially popular and constitute almost one quarter of all marriages in many Arab countries. Consequently, autosomal recessive (AR) dysmorphic syndromes constitute a considerable proportion of all birth defects among Arabs. Arab geneticists, with their persistent commitment to advancing research, have contributed to the description of a number of rare and new AR syndromes with the identification of novel genes. The collaboration with research teams in high-income countries resulted in a plethora of data on pathogenic variants and their function in causing dysmorphic syndromes. There could still be a considerable number of rare dysmorphic syndromes that prevail among Arabs which are not hitherto described and whose underlying molecular pathologies are not yet defined. Arab countries should thus strive to deploy DNA diagnostics and to build research capability around local priorities. Furthermore, a characterization of the prevailing genetic disorders in each geographic location, together with their mutations, is needed to plan for appropriate screening and testing protocols. An overview of consanguinity in Arab countries and examples of dysmorphology syndromes associated with consanguinity with their available molecular bases will be discussed. © 2014 S. Karger AG, Basel

Military-civilian cooperative emergency response to infectious disease prevention and control in China.

PubMed

Ma, Hui; Dong, Ji-Ping; Zhou, Na; Pu, Wei

2016-01-01

In recent years, the incidence of severe infectious diseases has increased, and the number of emerging infectious diseases continues to increase. The Chinese government and military forces have paid a great deal of attention to infectious disease prevention and control, and using military-civilian cooperation, they have successfully prevented numerous severe epidemic situations, such as severe acute respiratory syndrome (SARS), influenza A (H1N1), avian influenza H5N1 and H7N9, and Ebola hemorrhagic fever, while actively maintained public health, economic development, and national construction. This paper focuses on the mechanisms of the military-cooperative emergency response to infectious diseases--the joint working mechanism, the information-sharing mechanism, the research collaboration mechanism, and the joint disposal mechanism--and presents a sorted summary of the practices and experiences of cooperative emergency responses to infectious diseases. In the future, the Chinese military and the civilian sector will further strengthen the cooperative joint command system and emergency rescue force and will reinforce their collaborative information-sharing platform and technical equipment system to further improve military-civilian collaborative emergency infectious diseases disposal, advance the level of infectious disease prevention and control, and maintain public health.

The FANC pathway and BLM collaborate during mitosis to prevent micro-nucleation and chromosome abnormalities.

PubMed

Naim, Valeria; Rosselli, Filippo

2009-06-01

Loss-of-function of caretaker genes characterizes a group of cancer predisposition diseases that feature cellular hypersensitivity to DNA damage and chromosome fragility; this group includes Fanconi anaemia and Bloom syndrome. The products of the 13 FANC genes (mutated in Fanconi anaemia), which constitute the 'FANC' pathway, and BLM (the RecQ helicase mutated in Bloom syndrome) are thought to collaborate during the S phase of the cell cycle, preventing chromosome instability. Recently, BLM has been implicated in the completion of sister chromatid separation during mitosis, a complex process in which precise regulation and execution is crucial to preserve genomic stability. Here we show for the first time a role for the FANC pathway in chromosome segregation during mitotic cell division. FANCD2, a key component of the pathway, localizes to discrete spots on mitotic chromosomes. FANCD2 chromosomal localization is responsive to replicative stress and specifically targets aphidicolin (APH)-induced chromatid gaps and breaks. Our data indicate that the FANC pathway is involved in rescuing abnormal anaphase and telophase (ana-telophase) cells, limiting aneuploidy and reducing chromosome instability in daughter cells. We further address a cooperative role for the FANC pathway and BLM in preventing micronucleation, through FANC-dependent targeting of BLM to non-centromeric abnormal structures induced by replicative stress. We reveal new crosstalk between FANC and BLM proteins, extending their interaction beyond the S-phase rescue of damaged DNA to the safeguarding of chromosome stability during mitosis.

Investigation of 95 variants identified in a genome-wide study for association with mortality after acute coronary syndrome.

PubMed

Morgan, Thomas M; House, John A; Cresci, Sharon; Jones, Philip; Allayee, Hooman; Hazen, Stanley L; Patel, Yesha; Patel, Riyaz S; Eapen, Danny J; Waddy, Salina P; Quyyumi, Arshed A; Kleber, Marcus E; März, Winfried; Winkelmann, Bernhard R; Boehm, Bernhard O; Krumholz, Harlan M; Spertus, John A

2011-09-29

Genome-wide association studies (GWAS) have identified new candidate genes for the occurrence of acute coronary syndrome (ACS), but possible effects of such genes on survival following ACS have yet to be investigated. We examined 95 polymorphisms in 69 distinct gene regions identified in a GWAS for premature myocardial infarction for their association with post-ACS mortality among 811 whites recruited from university-affiliated hospitals in Kansas City, Missouri. We then sought replication of a positive genetic association in a large, racially diverse cohort of myocardial infarction patients (N = 2284) using Kaplan-Meier survival analyses and Cox regression to adjust for relevant covariates. Finally, we investigated the apparent association further in 6086 additional coronary artery disease patients. After Cox adjustment for other ACS risk factors, of 95 SNPs tested in 811 whites only the association with the rs6922269 in MTHFD1L was statistically significant, with a 2.6-fold mortality hazard (P = 0.007). The recessive A/A genotype was of borderline significance in an age- and race-adjusted analysis of the entire combined cohort (N = 3095; P = 0.052), but this finding was not confirmed in independent cohorts (N = 6086). We found no support for the hypothesis that the GWAS-identified variants in this study substantially alter the probability of post-ACS survival. Large-scale, collaborative, genome-wide studies may be required in order to detect genetic variants that are robustly associated with survival in patients with coronary artery disease.

Inherited secondary nephrogenic diabetes insipidus: concentrating on humans.

PubMed

Bockenhauer, D; Bichet, D G

2013-04-15

The study of human physiology is paramount to understanding disease and developing rational and targeted treatments. Conversely, the study of human disease can teach us a lot about physiology. Investigations into primary inherited nephrogenic diabetes insipidus (NDI) have contributed enormously to our understanding of the mechanisms of urinary concentration and identified the vasopressin receptor AVPR2, as well as the water channel aquaporin-2 (AQP2), as key players in water reabsorption in the collecting duct. Yet, there are also secondary forms of NDI, for instance as a complication of lithium treatment. The focus of this review is secondary NDI associated with inherited human diseases, such as Bartter syndrome or apparent mineralocorticoid excess. Currently, the underlying pathophysiology of this inherited secondary NDI is unclear, but there appears to be true AQP2 deficiency. To better understand the underlying mechanism(s), collaboration between clinical and experimental physiologists is essential to further investigate these observations in appropriate experimental models.

Timing of angiography with a routine invasive strategy and long-term outcomes in non-ST-segment elevation acute coronary syndrome: a collaborative analysis of individual patient data from the FRISC II (Fragmin and Fast Revascularization During Instability in Coronary Artery Disease), ICTUS (Invasive Versus Conservative Treatment in Unstable Coronary Syndromes), and RITA-3 (Intervention Versus Conservative Treatment Strategy in Patients With Unstable Angina or Non-ST Elevation Myocardial Infarction) Trials.

PubMed

Damman, Peter; van Geloven, Nan; Wallentin, Lars; Lagerqvist, Bo; Fox, Keith A A; Clayton, Tim; Pocock, Stuart J; Hirsch, Alexander; Windhausen, Fons; Tijssen, Jan G P; de Winter, Robbert J

2012-02-01

This study sought to investigate long-term outcomes after early or delayed angiography in patients with non-ST-segment elevation acute coronary syndrome (nSTE-ACS) undergoing a routine invasive management. The optimal timing of angiography in patients with nSTE-ACS is currently a topic for debate. Long-term follow-up after early (within 2 days) angiography versus delayed (within 3 to 5 days) angiography was investigated in the FRISC-II (Fragmin and Fast Revascularization During Instability in Coronary Artery Disease), ICTUS (Invasive Versus Conservative Treatment in Unstable Coronary Syndromes), and RITA-3 (Intervention Versus Conservative Treatment Strategy in Patients With Unstable Angina or Non-ST Elevation Myocardial Infarction) (FIR) nSTE-ACS patient-pooled database. The main outcome was cardiovascular death or myocardial infarction up to 5-year follow-up. Hazard ratios (HR) were calculated with Cox regression models. Adjustments were made for the FIR risk score, study, and the propensity of receiving early angiography using inverse probability weighting. Of 2,721 patients originally randomized to the routine invasive arm, consisting of routine angiography and subsequent revascularization if suitable, 975 underwent early angiography and 1,141 delayed angiography. No difference was observed in 5-year cardiovascular death or myocardial infarction in unadjusted (HR: 1.06, 95% confidence interval [CI]: 0.79 to 1.42, p=0.61) and adjusted (HR: 0.93, 95% CI: 0.75 to 1.16, p=0.54) Cox regression models. In the FIR database of patients presenting with nSTE-ACS, the timing of angiography was not related to long-term cardiovascular mortality or myocardial infarction. (Invasive Versus Conservative Treatment in Unstable Coronary Syndromes [ICTUS]; ISRCTN82153174. Intervention Versus Conservative Treatment Strategy in Patients With Unstable Angina or Non-ST Elevation Myocardial Infarction [the Third Randomised Intervention Treatment of Angina Trials (RITA-3)]; ISRCTN07752711). Copyright © 2012 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

Longitudinal MRI assessment: the identification of relevant features in the development of Posterior Fossa Syndrome in children

NASA Astrophysics Data System (ADS)

Spiteri, M.; Lewis, E.; Windridge, D.; Avula, S.

2015-03-01

Up to 25% of children who undergo brain tumour resection surgery in the posterior fossa develop posterior fossa syndrome (PFS). This syndrome is characterised by mutism and disturbance in speech. Our hypothesis is that there is a correlation between PFS and the occurrence of hypertrophic olivary degeneration (HOD) in lobes within the posterior fossa, known as the inferior olivary nuclei (ION). HOD is exhibited as an increase in size and intensity of the ION on an MR image. Intra-operative MRI (IoMRI) is used during surgical procedures at the Alder Hey Children's Hospital, Liver- pool, England, in the treatment of Posterior Fossa tumours and allows visualisation of the brain during surgery. The final MR scan on the IoMRI allows early assessment of the ION immediately after the surgical procedure. The longitudinal MRI data of 28 patients was analysed in a collaborative study with Alder Hey Children's Hospital, in order to identify the most relevant imaging features that relate to the development of PFS, specifically related to HOD. A semi-automated segmentation process was carried out to delineate the ION on each MRI. Feature selection techniques were used to identify the most relevant features amongst the MRI data, demographics and clinical data provided by the hospital. A support vector machine (SVM) was used to analyse the discriminative ability of the selected features. The results indicate the presence of HOD as the most efficient feature that correlates with the development of PFS, followed by the change in intensity and size of the ION and whether HOD occurred bilaterally or unilaterally.

The Mastocytosis Society survey on mast cell disorders: patient experiences and perceptions.

PubMed

Jennings, Susan; Russell, Nancy; Jennings, Blair; Slee, Valerie; Sterling, Lisa; Castells, Mariana; Valent, Peter; Akin, Cem

2014-01-01

Mast cell diseases include mastocytosis and mast cell activation syndromes, some of which have been shown to involve clonal defects in mast cells that result in abnormal cellular proliferation or activation. Numerous clinical studies of mastocytosis have been published, but no population-based comprehensive surveys of patients in the United States have been identified. Few mast cell disease specialty centers exist in the United States, and awareness of these mast cell disorders is limited among nonspecialists. Accordingly, information concerning the experiences of the overall estimated population of these patients has been lacking. To identify the experiences and perceptions of patients with mastocytosis, mast cell activation syndromes, and related disorders, The Mastocytosis Society (TMS), a US based patient advocacy, research, and education organization, conducted a survey of its members and other people known or suspected to be part of this patient population. A Web-based survey was publicized through clinics that treat these patients and through TMS's newsletter, Web site, and online blogs. Both online and paper copies of the questionnaire were provided, together with required statements of consent. The first results are presented for 420 patients. These results include demographics, diagnoses, symptoms, allergies, provoking factors of mast cell symptoms, and disease impact. Patients with mastocytosis and mast cell activation syndromes have provided clinical specialists, collaborators, and other patients with information to enable them to explore and deepen their understanding of the experiences and perceptions of people coping with these disorders. Copyright © 2013 The Authors. Published by Elsevier Inc. All rights reserved.

Leveraging premalignant biology for immune-based cancer prevention.

PubMed

Spira, Avrum; Disis, Mary L; Schiller, John T; Vilar, Eduardo; Rebbeck, Timothy R; Bejar, Rafael; Ideker, Trey; Arts, Janine; Yurgelun, Matthew B; Mesirov, Jill P; Rao, Anjana; Garber, Judy; Jaffee, Elizabeth M; Lippman, Scott M

2016-09-27

Prevention is an essential component of cancer eradication. Next-generation sequencing of cancer genomes and epigenomes has defined large numbers of driver mutations and molecular subgroups, leading to therapeutic advances. By comparison, there is a relative paucity of such knowledge in premalignant neoplasia, which inherently limits the potential to develop precision prevention strategies. Studies on the interplay between germ-line and somatic events have elucidated genetic processes underlying premalignant progression and preventive targets. Emerging data hint at the immune system's ability to intercept premalignancy and prevent cancer. Genetically engineered mouse models have identified mechanisms by which genetic drivers and other somatic alterations recruit inflammatory cells and induce changes in normal cells to create and interact with the premalignant tumor microenvironment to promote oncogenesis and immune evasion. These studies are currently limited to only a few lesion types and patients. In this Perspective, we advocate a large-scale collaborative effort to systematically map the biology of premalignancy and the surrounding cellular response. By bringing together scientists from diverse disciplines (e.g., biochemistry, omics, and computational biology; microbiology, immunology, and medical genetics; engineering, imaging, and synthetic chemistry; and implementation science), we can drive a concerted effort focused on cancer vaccines to reprogram the immune response to prevent, detect, and reject premalignancy. Lynch syndrome, clonal hematopoiesis, and cervical intraepithelial neoplasia which also serve as models for inherited syndromes, blood, and viral premalignancies, are ideal scenarios in which to launch this initiative.

Current status of health among workers in Japan: Results from the Japan Epidemiology Collaboration on Occupational Health Study

PubMed Central

KUWAHARA, Keisuke; UEHARA, Akihiko; YAMAMOTO, Makoto; NAKAGAWA, Tohru; HONDA, Toru; YAMAMOTO, Shuichiro; OKAZAKI, Hiroko; SASAKI, Naoko; OGASAWARA, Takayuki; HORI, Ai; NISHIURA, Chihiro; MIYAMOTO, Toshiaki; KOCHI, Takeshi; EGUCHI, Masafumi; TOMITA, Kentaro; IMAI, Teppei; NISHIHARA, Akiko; NAGAHAMA, Satsue; MURAKAMI, Taizo; SHIMIZU, Makiko; KABE, Isamu; MIZOUE, Tetsuya; KUNUGITA, Naoki; SONE, Tomofumi; DOHI, Seitaro

2016-01-01

Data are limited on the sex-specific prevalence of diseases and their risk factors in middle-aged and older workers in Japan. In this cross-sectional study, we investigated the age- and sex-specific prevalence of hypertension, diabetes, dyslipidemia, metabolic syndrome (defined using joint statement criteria), obesity, underweight, abdominal obesity, and smoking among approximately 70,000 to 90,000 Japanese workers (predominantly men) aged 20–69 years in 2014. We also investigated the prevalence of low cardiorespiratory fitness in 2012 and no leisure-time exercise in 2014. In both sexes, the prevalence of lifestyle-related risk factors, including hypertension, diabetes, dyslipidemia, metabolic syndrome, obesity, and abdominal obesity, was increased with aging. In contrast, the prevalence of underweight was decreased with aging. Smoking prevalence exceeded 30% in men regardless of age, whereas the prevalence was around 10% in women of all age groups. Prevalence of no leisure-time exercise exceeded 50% among middle-aged and older workers in both sexes. Among workers aged 50–64 years, less than half of men had low fitness, whereas more than half of women had low fitness. Given the high prevalence of lifestyle-related risk factors among middle-aged and older workers, effective strategies to prevent cardiovascular disease in this age group are needed in Japan. PMID:27430963

Tennessee HIV/AIDS people of color project.

PubMed

Williams, Elizabeth; Kanu, Mohamed; Williams, Charles; Jackman, Robbie M; Alsup, Peggy; Theriot, Rosemary; Wong, Seok

2010-08-01

The 25th anniversary of the acquired immunodeficiency syndrome (AIDS) in the United States occurred in 2006. Despite advances in detection, treatment, and care, AIDS, along with human immunodeficiency virus (HIV), and other sexually transmitted diseases (STDs) remain formidable opponents. Tremendous strides have been made in educating the public about associated risk factors and effective prevention methods. However, this has occurred less in communities of color. The paper describes collaboration among public health practitioners and academics to design and conduct research about HIV/AIDS needs and assets in Tennessee's communities of color.

Biological Effects of Ionising Radiation and Countermeasures (Les effets biologiques des rayonnements ionisants et leurs contre-mesures)

DTIC Science & Technology

2018-01-01

promote cooperative research and information exchange, and secondly an in-house delivery business model where S&T activities are conducted in a NATO...Panel These Panels and Group are the power-house of the collaborative model and are made up of national representatives as well as recognised world...of Radiation Injury and Recovery 1-31 1.3.3.2 Mini-Pig Model of Acute Radiation Syndrome ( ARS ) 1-31 1.3.3.3 Medical Countermeasures (MedCM) 1-32

Cooperative research and development opportunities with the National Cancer Institute

NASA Technical Reports Server (NTRS)

Sybert, Kathleen

1991-01-01

The Office of Technology Development (OTD) of the National Cancer Institute (NCI) is responsible for negotiating Cooperative Research and Development Agreements (CRADAs), whereby the knowledge resulting from NCI investigators' government-sponsored research is developed in collaboration with universities and/or industry into new products of importance for the diagnosis and treatment of cancer and acquired immunodeficiency syndrome (AIDS). The NCI has recently executed a unique 'clinical trials' CRADA and is developing a model agreement based upon it for the development and commercialization of products for the diagnosis and treatment of cancer and AIDS. NCI drug screening, preclinical testing, clinical trials, and AIDS program capabilities form the basis for this new technology development/technology transfer vehicle. NCI's extensive drug screening program and 'designer foods' program serve as potential sources of investigational new drugs (INDs) and cancer preventatives. Collaborations between NCI and pharmaceutical companies having the facilities, experience, and expertise necessary to develop INDs into approved drugs available to the public are being encouraged where the companies have proprietary rights to INDs, or where NCI has proprietary rights to INDs and invites companies to respond to a collaborator announcement published in the Federal Register. The joint efforts of the NCI and the chosen collaborator are designed to generate the data necessary to obtain pharmaceutic regulatory approval from the Food and Drug Administration (FDA) to market the drugs developed, and thereby make them available to health care providers for the diagnosis and treatment of cancer and AIDS.

Myositis registries and biorepositories: powerful tools to advance clinical, epidemiologic and pathogenic research

PubMed Central

Rider, Lisa G.; Dankó, Katalin; Miller, Frederick W.

2016-01-01

Purpose of review Clinical registries and biorepositories have proven extremely useful in many studies of diseases, especially rare diseases. Given their rarity and diversity, the idiopathic inflammatory myopathies, or myositis syndromes, have benefited from individual researchers’ collections of cohorts of patients. Major efforts are being made to establish large registries and biorepositories that will allow many additional studies to be performed that were not possible before. Here we describe the registries developed by investigators and patient support groups that are currently available for collaborative research purposes. Recent findings We have identified 46 myositis research registries, including many with biorepositories, which have been developed for a wide variety of purposes and have resulted in great advances in understanding the range of phenotypes, clinical presentations, risk factors, pathogenic mechanisms, outcome assessment, therapeutic responses, and prognoses. These are now available for collaborative use to undertake additional studies. Two myositis patient registries have been developed for research, and myositis patient support groups maintain demographic registries with large numbers of patients available to be contacted for potential research participation. Summary Investigator-initiated myositis research registries and biorepositories have proven extremely useful in understanding many aspects of these rare and diverse autoimmune diseases. These registries and biorepositories, in addition to those developed by myositis patient support groups, deserve continued support to maintain the momentum in this field as they offer major opportunities to improve understanding of the pathogenesis and treatment of these diseases in cost-effective ways. PMID:25225838

Myositis registries and biorepositories: powerful tools to advance clinical, epidemiologic and pathogenic research.

PubMed

Rider, Lisa G; Dankó, Katalin; Miller, Frederick W

2014-11-01

Clinical registries and biorepositories have proven extremely useful in many studies of diseases, especially rare diseases. Given their rarity and diversity, the idiopathic inflammatory myopathies, or myositis syndromes, have benefited from individual researchers' collections of cohorts of patients. Major efforts are being made to establish large registries and biorepositories that will allow many additional studies to be performed that were not possible before. Here, we describe the registries developed by investigators and patient support groups that are currently available for collaborative research purposes. We have identified 46 myositis research registries, including many with biorepositories, which have been developed for a wide variety of purposes and have resulted in great advances in understanding the range of phenotypes, clinical presentations, risk factors, pathogenic mechanisms, outcome assessment, therapeutic responses, and prognoses. These are now available for collaborative use to undertake additional studies. Two myositis patient registries have been developed for research, and myositis patient support groups maintain demographic registries with large numbers of patients available to be contacted for potential research participation. Investigator-initiated myositis research registries and biorepositories have proven extremely useful in understanding many aspects of these rare and diverse autoimmune diseases. These registries and biorepositories, in addition to those developed by myositis patient support groups, deserve continued support to maintain the momentum in this field as they offer major opportunities to improve understanding of the pathogenesis and treatment of these diseases in cost-effective ways.

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.

PubMed

Balasubramanian, M; Lord, H; Levesque, S; Guturu, H; Thuriot, F; Sillon, G; Wenger, A M; Sureka, D L; Lester, T; Johnson, D S; Bowen, J; Calhoun, A R; Viskochil, D H; Bejerano, G; Bernstein, J A; Chitayat, D

2017-03-01

In 1993, Chitayat et al. , reported a newborn with hyperphalangism, facial anomalies, and bronchomalacia. We identified three additional families with similar findings. Features include bilateral accessory phalanx resulting in shortened index fingers; hallux valgus; distinctive face; respiratory compromise. To identify the genetic aetiology of Chitayat syndrome and identify a unifying cause for this specific form of hyperphalangism. Through ongoing collaboration, we had collected patients with strikingly-similar phenotype. Trio-based exome sequencing was first performed in Patient 2 through Deciphering Developmental Disorders study. Proband-only exome sequencing had previously been independently performed in Patient 4. Following identification of a candidate gene variant in Patient 2, the same variant was subsequently confirmed from exome data in Patient 4. Sanger sequencing was used to validate this variant in Patients 1, 3; confirm paternal inheritance in Patient 5. A recurrent, novel variant NM_006494.2:c.266A>G p.(Tyr89Cys) in ERF was identified in five affected individuals: de novo (patient 1, 2 and 3) and inherited from an affected father (patient 4 and 5). p.Tyr89Cys is an aromatic polar neutral to polar neutral amino acid substitution, at a highly conserved position and lies within the functionally important ETS-domain of the protein. The recurrent ERF c.266A>C p.(Tyr89Cys) variant causes Chitayat syndrome. ERF variants have previously been associated with complex craniosynostosis. In contrast, none of the patients with the c.266A>G p.(Tyr89Cys) variant have craniosynostosis. We report the molecular aetiology of Chitayat syndrome and discuss potential mechanisms for this distinctive phenotype associated with the p.Tyr89Cys substitution in ERF . Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss.

PubMed

Umrigar, Ayesha; Musso, Amanda; Mercer, Danielle; Hurley, Annette; Glausier, Cassondra; Bakeer, Mona; Marble, Michael; Hicks, Chindo; Tsien, Fern

2017-01-01

Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families. Next-generation sequencing and diagnostic panels have become increasingly reliable and less expensive for clinical use. Despite these developments, the diagnosis of genetic sensorineural hearing loss still presents challenges for healthcare providers. Inherited sensorineural hearing loss has high levels of genetic heterogeneity and variable expressivity. Additionally, syndromic hearing loss (hearing loss and additional clinical abnormalities) should be distinguished from non-syndromic (hearing loss is the only clinical symptom). Although the diagnosis of genetic sensorineural hearing loss can be challenging, the patient's family history and ethnicity may provide critical information, as certain genetic mutations are more common in specific ethnic populations. The early identification of the cause of deafness can benefit patients and their families by estimating recurrence risks for future family planning and offering the proper interventions to improve their quality of life. Collaboration between pediatricians, audiologists, otolaryngologists, geneticists, and other specialists are essential in the diagnosis and management of patients with hearing disorders. An early diagnosis is vital for proper management and care, as some clinical manifestations of syndromic sensorineural hearing loss are not apparent at birth and have a delayed age of onset. We present a case of Usher syndrome (congenital deafness and childhood-onset blindness) illustrating the challenges encountered in the diagnosis and management of children presenting with congenital genetic sensorineural hearing loss, along with helpful resources for clinicians and families.

Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing.

PubMed

Aliferis, K; Hellé, S; Gyapay, G; Duchatelet, S; Stoetzel, C; Mandel, J L; Dollfus, H

2012-03-01

Early onset retinal degeneration associated with obesity can present a diagnostic challenge in paediatric ophthalmology practice. Clinical overlap between Bardet-Biedl syndrome (BBS) and Alström syndrome has been described, although the two entities are genetically distinct. To date, 16 genes are known to be associated with BBS (BBS1-16) and only one gene has been identified for Alström syndrome (ALMS1). In collaboration with the French National Center for Sequencing (CNS, Evry), all coding exons and flanking introns were sequenced for 27 ciliopathy genes (BBS1-12, MGC1203, TTC21b, AHI1, NPHP2-8 (NPHP6=BBS14), MKS1(BBS13), MKS3, C2ORF86, SDCCAG8, ALMS1) in 96 patients referred with a clinical diagnosis of BBS. ALMS1 gene analysis included sequencing of all coding exons. BBS known gene mutations were found in 44 patients (36 with two mutations and 8 heterozygous). ALMS1 mutations were found in four cases. The rate of ALMS1 mutations among patients suspected of having BBS was 4.2%. Clinically, all four patients presented early-onset severe retinal degeneration with congenital nystagmus associated with obesity. The difficult early differential diagnosis between the two syndromes is outlined. One mutation had already been reported (c.11310delAGAG/p.R3770fsX) and three were novel (c.2293C > T/p.Q765X, c.6823insA/p.R2275fsX, c.9046delA/p.N3016fsX). Ciliopathy genes sequencing can be very helpful in providing a timely diagnosis in this group of patients, hence appropriate genetic counselling for families and adequate medical follow-up for affected children.

Vascular hand-arm vibration syndrome--magnetic resonance angiography.

PubMed

Poole, C J M; Cleveland, T J

2016-01-01

The diagnosis of vascular hand-arm vibration syndrome (HAVS) requires consistent symptoms, photographic evidence of digital blanching and sufficient exposure to hand-transmitted vibration (HTV; A(8) > 2.5 m/s2). There is no reliable quantitative investigation for distinguishing HAVS from other causes of Raynaud's phenomenon and from normal individuals. Hypothenar and thenar hammer syndromes produce similar symptoms to HAVS but are difficult to diagnose clinically and may be confused with HAVS. Magnetic resonance angiography (MRA) is a safe and minimally invasive method of visualizing blood vessels. Three cases of vascular HAVS are described in which MRA revealed occlusions of the ulnar, radial and superficial palmar arteries. It is proposed that HTV was the cause of these occlusions, rather than blows to the hand unrelated to vibration, the assumed mechanism for the hammer syndromes. All three cases were advised not to expose their hands to HTV despite one of them being at Stockholm vascular stage 2 (early). MRA should be the investigation of choice for stage 2 vascular HAVS or vascular HAVS with unusual features or for a suspected hammer syndrome. The technique is however technically challenging and best done in specialist centres in collaboration with an occupational physician familiar with the examination of HAVS cases. Staging for HAVS should be developed to include anatomical arterial abnormalities as well as symptoms and signs of blanching. Workers with only one artery supplying a hand, or with only one palmar arch, may be at increased risk of progression and therefore should not be exposed to HTV irrespective of their Stockholm stage. © The Author 2015. Published by Oxford University Press on behalf of the Society of Occupational Medicine. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Autoinflammatory Diseases with Periodic Fevers.

PubMed

Sag, Erdal; Bilginer, Yelda; Ozen, Seza

2017-07-01

One purpose of this review was to raise awareness for the new autoinflammatory syndromes. These diseases are increasingly recognized and are in the differential diagnosis of many disease states. We also aimed to review the latest recommendations for the diagnosis, management, and treatment of these patients. Familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), and hyperimmunoglobulinemia D and periodic fever syndrome/mevalonate kinase deficiency (HIDS/MVKD) are the more common autoinflammatory diseases that are characterized by periodic fevers and attacks of inflammation. Recently much collaborative work has been done to understand the characteristics of these patients and to develop recommendations to guide the physicians in the care of these patients. These recent recommendations will be summarized for all four diseases. FMF is the most common periodic fever disease. We need to further understand the pathogenesis and the role of single mutations in the disease. Recently, the management and treatment of the disease have been nicely reviewed. CAPS is another interesting disease associated with severe complications. Anti-interleukin-1 (anti-IL-1) treatment provides cure for these patients. TRAPS is characterized by the longest delay in diagnosis; thus, both pediatricians and internists should be aware of the characteristic features and the follow-up of these patients. HIDS/MVKD is another autoinflammatory diseases characterized with fever attacks. The spectrum of disease manifestation is rather large in this disease, and we need further research on biomarkers for the optimal management of these patients.

Management of pediatric tumor lysis syndrome.

PubMed

Tazi, Illias; Nafl, Hatim; Elhoudzi, Jamila; Mahmal, Lahoucine; Harif, Mhamed

2011-09-01

Tumor lysis syndrome (TLS) is a serious complication of malignancies and can result in renal failure or death. In tumors with a high proliferative rate with a relatively large mass and a high sensitivity to cytotoxic agents, the initiation of therapy often results in the rapid release of intracellular anions, cations and the metabolic products of proteins and nucleic acids into the bloodstream. The increased concentrations of uric acid, phosphates, potassium and urea can overwhelm the body's homeostatic mechanisms to process and excrete these materials and result in the clinical spectrum associated with TLS. Typical clinical sequelae include gastrointestinal disturbances, neuromuscular effects, cardiovascular complications, acute renal failure and death. Tumor lysis syndrome can also compromise the efficacy or administration of curative therapies. Available evidence suggests that the incidence of clinical TLS is approximately 3-7% for acute leukemias and 4-11% for lymphomas. Pediatric cancers are the leading cause of death by disease in children. The most common pediatric cancers include the leukemias, lymphomas, central nervous system tumors and neuroblastoma. Thus, TLS is a major concern to practitioners caring for pediatric oncology patients. Given the complexity of TLS prevention and treatment, a multidisciplinary approach involving the collaboration of medical oncologists/ hematologists and nephrologists has the greatest potential of ensuring optimal patient outcomes. Rehydration is fundamental in the management of TLS in addition to the current standard therapy for hyperuricemia which include rasburicase and allopurinol. The early recognition and treatment of metabolic abnormalities often prevents the severe and life-threatening complications associated with tumor lysis syndrome.

The proceedings of the 15th professional conference on Williams Syndrome.

PubMed

Walton, Jennifer R; Martens, Marilee A; Pober, Barbara R

2017-05-01

Williams Syndrome (WS) is a contiguous gene deletion disorder, caused by the deletion of approximately 26-28 genes from chromosome 7 (7q11.23). Individuals with WS have complex medical, developmental, and behavioral features, requiring multidisciplinary and interdisciplinary collaboration. Guidelines detailing the identification, evaluation, and monitoring of individuals with WS need clarification, especially for primary care providers who are first-line in their management. This report summarizes the proceedings of the 2016 Professional Conference on WS in Columbus, OH. Presentations were directed towards primary care providers and subspecialists, emphasizing evidence-based practices for treating the prevalent medical and behavioral features of WS. Included in this report are findings from a panel of cardiovascular experts discussing three case studies on treatment of hypertension and the use of sedation or anesthesia for non-cardiac procedures. Abstracts from individual expert presenters are included, covering various medical and behavioral topics, and providing updates in management of WS individuals. The following topics were discussed: differences in phenotypes of 7q11.23 deletion versus duplication, growth parameters, endocrine concerns, sleep difficulties, behaviors to monitor, and pharmacological options, the neurodevelopmental profile of WS individuals, and the importance of monitoring medical and behavioral concerns as WS individuals transition to adulthood. © 2017 Wiley Periodicals, Inc.

Cross-Disciplinary Consultancy to Bridge Public Health Technical Needs and Analytic Developers: Asyndromic Surveillance Use Case

PubMed Central

Faigen, Zachary; Deyneka, Lana; Ising, Amy; Neill, Daniel; Conway, Mike; Fairchild, Geoffrey; Gunn, Julia; Swenson, David; Painter, Ian; Johnson, Lauren; Kiley, Chris; Streichert, Laura

2015-01-01

Introduction: We document a funded effort to bridge the gap between constrained scientific challenges of public health surveillance and methodologies from academia and industry. Component tasks are the collection of epidemiologists’ use case problems, multidisciplinary consultancies to refine them, and dissemination of problem requirements and shareable datasets. We describe an initial use case and consultancy as a concrete example and challenge to developers. Materials and Methods: Supported by the Defense Threat Reduction Agency Biosurveillance Ecosystem project, the International Society for Disease Surveillance formed an advisory group to select tractable use case problems and convene inter-disciplinary consultancies to translate analytic needs into well-defined problems and to promote development of applicable solution methods. The initial consultancy’s focus was a problem originated by the North Carolina Department of Health and its NC DETECT surveillance system: Derive a method for detection of patient record clusters worthy of follow-up based on free-text chief complaints and without syndromic classification. Results: Direct communication between public health problem owners and analytic developers was informative to both groups and constructive for the solution development process. The consultancy achieved refinement of the asyndromic detection challenge and of solution requirements. Participants summarized and evaluated solution approaches and discussed dissemination and collaboration strategies. Practice Implications: A solution meeting the specification of the use case described above could improve human monitoring efficiency with expedited warning of events requiring follow-up, including otherwise overlooked events with no syndromic indicators. This approach can remove obstacles to collaboration with efficient, minimal data-sharing and without costly overhead. PMID:26834939

Cross-Disciplinary Consultancy to Bridge Public Health Technical Needs and Analytic Developers: Asyndromic Surveillance Use Case.

PubMed

Faigen, Zachary; Deyneka, Lana; Ising, Amy; Neill, Daniel; Conway, Mike; Fairchild, Geoffrey; Gunn, Julia; Swenson, David; Painter, Ian; Johnson, Lauren; Kiley, Chris; Streichert, Laura; Burkom, Howard

2015-01-01

We document a funded effort to bridge the gap between constrained scientific challenges of public health surveillance and methodologies from academia and industry. Component tasks are the collection of epidemiologists' use case problems, multidisciplinary consultancies to refine them, and dissemination of problem requirements and shareable datasets. We describe an initial use case and consultancy as a concrete example and challenge to developers. Supported by the Defense Threat Reduction Agency Biosurveillance Ecosystem project, the International Society for Disease Surveillance formed an advisory group to select tractable use case problems and convene inter-disciplinary consultancies to translate analytic needs into well-defined problems and to promote development of applicable solution methods. The initial consultancy's focus was a problem originated by the North Carolina Department of Health and its NC DETECT surveillance system: Derive a method for detection of patient record clusters worthy of follow-up based on free-text chief complaints and without syndromic classification. Direct communication between public health problem owners and analytic developers was informative to both groups and constructive for the solution development process. The consultancy achieved refinement of the asyndromic detection challenge and of solution requirements. Participants summarized and evaluated solution approaches and discussed dissemination and collaboration strategies. A solution meeting the specification of the use case described above could improve human monitoring efficiency with expedited warning of events requiring follow-up, including otherwise overlooked events with no syndromic indicators. This approach can remove obstacles to collaboration with efficient, minimal data-sharing and without costly overhead.

Creation of an international registry to support discovery in schwannomatosis.

PubMed

Ostrow, K L; Bergner, A L; Blakeley, J; Evans, D G; Ferner, R; Friedman, J M; Harris, G J; Jordan, J T; Korf, B; Langmead, S; Leschziner, G; Mautner, V; Merker, V L; Papi, L; Plotkin, S R; Slopis, J M; Smith, M J; Stemmer-Rachamimov, A; Yohay, K; Belzberg, A J

2017-02-01

Schwannomatosis is a tumor suppressor syndrome that causes multiple tumors along peripheral nerves. Formal diagnostic criteria were first published in 2005. Variability in clinical presentation and a relative lack of awareness of the syndrome have contributed to difficulty recognizing affected individuals and accurately describing the natural history of the disorder. Many critical questions such as the mutations underlying schwannomatosis, genotype-phenotype correlations, inheritance patterns, pathologic diagnosis of schwannomatosis-associated schwannomas, tumor burden in schwannomatosis, the incidence of malignancy, and the effectiveness of current, or new treatments remain unanswered. A well-curated registry of schwannomatosis patients is needed to facilitate research in field. An international consortium of clinicians and scientists across multiple disciplines with expertise in schwannomatosis was established and charged with the task of designing and populating a schwannomatosis patient registry. The International Schwannomatosis Registry (ISR) was built around key data points that allow confirmation of the diagnosis and identification of potential research subjects to advance research to further the knowledge base for schwannomatosis. A registry with 389 participants enrolled to date has been established. Twenty-three additional subjects are pending review. A formal process has been established for scientific investigators to propose research projects, identify eligible subjects, and seek collaborators from ISR sites. Research collaborations have been created using the information collected by the registry and are currently being conducted. The ISR is a platform from which multiple research endeavors can be launched, facilitating connections between affected individuals interested in participating in research and researchers actively investigating a variety of aspects of schwannomatosis. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Medial tibial stress syndrome: evidence-based prevention.

PubMed

Craig, Debbie I

2008-01-01

Thacker SB, Gilchrist J, Stroup DF, Kimsey CD. The prevention of shin splints in sports: a systematic review of literature. Med Sci Sports Exerc. 2002;34(1):32-40. Among physically active individuals, which medial tibial stress syndrome (MTSS) prevention methods are most effective to decrease injury rates? Studies were identified by searching MEDLINE (1966-2000), Current Contents (1996-2000), Biomedical Collection (1993-1999), and Dissertation Abstracts. Reference lists of identified studies were searched manually until no further studies were identified. Experts in the field were contacted, including first authors of randomized controlled trials addressing prevention of MTSS. The Cochrane Collaboration (early stage of Cochrane Database of Systematic Reviews) was contacted. Inclusion criteria included randomized controlled trials or clinical trials comparing different MTSS prevention methods with control groups. Excluded were studies that did not provide primary research data or that addressed treatment and rehabilitation rather than prevention of incident MTSS. A total of 199 citations were identified. Of these, 4 studies compared prevention methods for MTSS. Three reviewers independently scored the 4 studies. Reviewers were blinded to the authors' names and affiliations but not the results. Each study was evaluated independently for methodologic quality using a 100-point checklist. Final scores were averages of the 3 reviewers' scores. Prevention methods studied were shock-absorbent insoles, foam heel pads, Achilles tendon stretching, footwear, and graduated running programs. No statistically significant results were noted for any of the prevention methods. Median quality scores ranged from 29 to 47, revealing flaws in design, control for bias, and statistical methods. No current evidence supports any single prevention method for MTSS. The most promising outcomes support the use of shock-absorbing insoles. Well-designed and controlled trials are critically needed to decrease the incidence of this common injury.

Hematopoietic Stem Cell Transplantation for Progressive Combined Immunodeficiency and Lymphoproliferation in Activated PI3K Syndrome Type 1.

PubMed

Okano, Tsubasa; Imai, Kohsuke; Tsujita, Yuki; Mitsuiki, Noriko; Yoshida, Kenichi; Kamae, Chikako; Honma, Kenichi; Mitsui-Sekinaka, Kanako; Sekinaka, Yujin; Kato, Tamaki; Hanabusa, Katsuyuki; Endo, Eri; Takashima, Takehiro; Hiroki, Haruka; Yeh, Tzu-Wen; Tanaka, Keisuke; Nagahori, Masakazu; Tsuge, Ikuya; Bando, Yuki; Iwasaki, Fuminori; Shikama, Yoshiaki; Inoue, Masami; Kimoto, Tomiko; Moriguchi, Naohiko; Yuza, Yuki; Kaneko, Takashi; Suzuki, Kyoko; Matsubara, Tomoyo; Maruo, Yoshihiro; Kunitsu, Tomoaki; Waragai, Tomoko; Sano, Hideki; Hashimoto, Yuko; Tasaki, Kazuhiro; Suzuki, Osamu; Shirakawa, Toshihiko; Kato, Motohiro; Uchiyama, Toru; Ishimura, Masataka; Tauchi, Tetsuzo; Yagasaki, Hiroshi; Jou, Shiann-Tarng; Yu, Hsin-Hui; Kanegane, Hirokazu; Kracker, Sven; Durandy, Anne; Kojima, Daiei; Muramatsu, Hideki; Wada, Taizo; Inoue, Yuzaburo; Takada, Hidetoshi; Kojima, Seiji; Ogawa, Seishi; Ohara, Osamu; Nonoyama, Shigeaki; Morio, Tomohiro

2018-05-17

Activated phosphatidylinositol-3-OH kinase-delta (PI3Kδ) syndrome type 1 (APDS1) is a recently described primary immunodeficiency syndrome characterized by recurrent respiratory infections, lymphoid hyperplasia, and herpesviridae infections due to germline gain-of-function mutations of PIK3CD. Hematopoietic stem cell transplantation (HSCT) may be considered to ameliorate progressive immunodeficiency and associated malignancy, but appropriate indications, method, and outcomes of HSCT for APDS1 remain undefined. Our objective was to analyze the clinical manifestations, laboratory findings, prognosis, and treatment of APDS1 and explore appropriate indications and methods of HSCT. We retrospectively reviewed the medical records of cohorts undergoing HSCT at collaborating facilities. Thirty-year overall survival was 86.1%, but event-free survival was 39.6%. Life-threatening events, such as severe infections or lymphoproliferation, were frequent in childhood and adolescence, and were common indications for HSCT. Nine patients underwent HSCT with fludarabine-based reduced intensity conditioning (RIC). Seven patients survived after frequent adverse complications and engraftment failure. Most symptoms improved after HSCT. Patients with APDS1 showed variable clinical manifestations. Life-threatening progressive combined immunodeficiency and massive lymphoproliferation were common indications for HSCT. Fludarabine-based RIC-HSCT ameliorated clinical symptoms, but transplant-related complications were frequent, including graft failure. Copyright © 2018. Published by Elsevier Inc.

Coniunctio--in bodily and psychic modes: dissociation, devitalization and integration in a case of chronic fatigue syndrome.

PubMed

Holland, P

1997-04-01

Three years of analytical psychotherapy with a professional woman in mid-life, suffering from chronic fatigue syndrome (CFS), is described. Gradual recovery merged into mid-life changes; marriage, along with a new balance of maternal and paternal imagos, enabled her to trust enough to become pregnant-coniunctio in the most primal bodily and psychic modes. Her life-long, schizoid type pattern, "the pendulum of closeness and isolation', with its extreme of psycho-physical collapse and devitalization, was replayed in therapy. The analyst's symbolic attitude is emphasized, containing the patient's initial affective explosion and validating the physicality of her condition. Mirroring and steady rhythmic attunement became a new, pre-verbal, source of trust-vitalization; differentiation and separation replaced defensive splitting and dissociation. Then the overwhelmingly powerful bodily/maternal could be counterbalanced by the masculine, and a transitional space emerged for symbolic work. Both the regressive and the dynamic aspects of CFS are located in the earliest undifferentiated, archetypal, bodily/psychic modes, when the frustration of primary needs evokes the defences of the self. It is argued that our psychodynamic understanding can contribute to the stalemate in seeing chronic fatigue syndrome as either an organic illness or depression, and that a new linking of the somatic and psychic calls for a new professional collaboration.

Testing Women With Endometrial Cancer for Lynch Syndrome: Should We Test All?

PubMed Central

Ma, Jun; Ledbetter, Nancy; Glenn, Lyn

2013-01-01

Women with Lynch syndrome (LS) are at equal or higher risk for gynecologic cancers compared with their risk for colorectal cancer (CRC). Endometrial cancer (EC) often precedes CRC as patients’ sentinel malignancy. Identifying these patients is believed to reduce their substantial risk for synchronous and metachronous tumors and has profound implications for reducing cancer-related morbidity and mortality in other family members. Routine screening of patients with CRC for LS has become increasingly common, but routine screening for LS in women with EC is rarely performed. Current screening guidelines for identifying LS in women with EC vary but rely heavily on patient age and personal/family history, with or without incorporation of tumor pathology. Because each of these strategies misses a significant proportion of women with LS, more inclusive screening strategies that make good economic and clinical sense are needed. In recent years, emerging medicoeconomic evidence supports the fact that screening EC patients for LS may be cost-effective. Implementation of such a strategy requires multidisciplinary collaboration and partnership. PMID:25032011

The Montreux definition of neonatal ARDS: biological and clinical background behind the description of a new entity.

PubMed

De Luca, Daniele; van Kaam, Anton H; Tingay, David G; Courtney, Sherry E; Danhaive, Olivier; Carnielli, Virgilio P; Zimmermann, Luc J; Kneyber, Martin C J; Tissieres, Pierre; Brierley, Joe; Conti, Giorgio; Pillow, Jane J; Rimensberger, Peter C

2017-08-01

Acute respiratory distress syndrome (ARDS) is undefined in neonates, despite the long-standing existing formal recognition of ARDS syndrome in later life. We describe the Neonatal ARDS Project: an international, collaborative, multicentre, and multidisciplinary project which aimed to produce an ARDS consensus definition for neonates that is applicable from the perinatal period. The definition was created through discussions between five expert members of the European Society for Paediatric and Neonatal Intensive Care; four experts of the European Society for Paediatric Research; two independent experts from the USA and two from Australia. This Position Paper provides the first consensus definition for neonatal ARDS (called the Montreux definition). We also provide expert consensus that mechanisms causing ARDS in adults and older children-namely complex surfactant dysfunction, lung tissue inflammation, loss of lung volume, increased shunt, and diffuse alveolar damage-are also present in several critical neonatal respiratory disorders. Copyright © 2017 Elsevier Ltd. All rights reserved.

DRG Spinal Cord Stimulation as Solution for Patients With Severe Pain Due to Anterior Cutaneous Nerve Entrapment Syndrome: A Case Series.

PubMed

Mol, Frédérique Mathilde Ulrike; Roumen, Rudi M H

2018-04-01

Anterior Cutaneous Nerve Entrapment Syndrome (ACNES) is a debilitating neuropathic pain condition. A small portion of patients do not respond to any currently available treatment modalities. These patients, often young women, might benefit from targeted spinal cord stimulation of the dorsal root ganglion (DRG). This retrospective case series describes five ACNES patients who were referred from a Dutch dedicated tertiary referral center to collaborating sites with extensive experience in DRG stimulation to be implanted with a DRG Axium System (St. Jude/Abbott, IL, USA) in the period of 2013-2016. Numeric pain rating scores at routine 6- and 12-month follow-up visits were analyzed. Three patients experienced >50% pain reduction at 12 months follow-up. Four patients experienced device-related complications, such as lead dislocation, lead breakage, pain at the battery site, and overstimulation. This case series suggests DRG spinal cord stimulation can be safe and effective for some patients with persistent pain due to ACNES. © 2017 International Neuromodulation Society.

A common challenge in older adults: Classification, overlap, and therapy of depression and dementia.

PubMed

Leyhe, Thomas; Reynolds, Charles F; Melcher, Tobias; Linnemann, Christoph; Klöppel, Stefan; Blennow, Kaj; Zetterberg, Henrik; Dubois, Bruno; Lista, Simone; Hampel, Harald

2017-01-01

Late-life depression is frequently associated with cognitive impairment. Depressive symptoms are often associated with or even precede a dementia syndrome. Moreover, depressive disorders increase the risk of persistence for mild cognitive impairment and dementia. Here, we present both the current state of evidence and future perspectives regarding the integration and value of clinical assessments, neuropsychological, neurochemical, and neuroimaging biomarkers for the etiological classification of the dementia versus the depression syndrome and for the prognosis of depression relating to dementia risk. Finally, we summarize the existing evidence for both pharmacotherapy and psychotherapy of depression in demented patients. There is an urgent need for large-scale collaborative research to elucidate the role and interplay of clinical and biological features in elderly individuals with depressive disorders who are at elevated risk for developing dementia. To overcome barriers for successful drug development, we propose the introduction of the precision medicine paradigm to this research field. Copyright © 2016 the Alzheimer's Association. Published by Elsevier Inc. All rights reserved.

Roadmap to developing a recombinant coronavirus S protein receptor-binding domain vaccine for severe acute respiratory syndrome

PubMed Central

Jiang, Shibo; Bottazzi, Maria Elena; Du, Lanying; Lustigman, Sara; Tseng, Chien-Te Kent; Curti, Elena; Jones, Kathryn; Zhan, Bin; Hotez, Peter J

2013-01-01

A subunit vaccine, RBD-S, is under development to prevent severe acute respiratory syndrome (SARS) caused by SARS coronavirus (SARS-CoV), which is classified by the US NIH as a category C pathogen. This vaccine is comprised of a recombinant receptor-binding domain (RBD) of the SARS-CoV spike (S) protein and formulated on alum, together with a synthetic glucopyranosyl lipid A. The vaccine would induce neutralizing antibodies without causing Th2-type immunopathology. Vaccine development is being led by the nonprofit product development partnership; Sabin Vaccine Institute and Texas Children’s Hospital Center for Vaccine Development in collaboration with two academic partners (the New York Blood Center and University of Texas Medical Branch); an industrial partner (Immune Design Corporation); and Walter Reed Army Institute of Research. A roadmap for the product development of the RBD-S SARS vaccine is outlined with a goal to manufacture the vaccine for clinical testing within the next 5 years. PMID:23252385

Oral manifestations and dental management of a child with Zellweger syndrome.

PubMed

Lertsirivorakul, Jinda; Wongswadiwat, Malinee; Treesuwan, Panta

2014-01-01

Zellweger syndrome (ZS) is a rare autosomal recessive disorder, resulting from an impairment in peroxisome function. It is characterized by craniofacial dysmorphism and neurological abnormalities, and involves several systems, which may complicate dental and anesthesia management. The case of a 7-year-old girl diagnosed with ZS is described with emphasis on oral manifestations, oral rehabilitation under general anesthesia (GA), and home oral care. Apart from the unique features of ZS, she presented with clinodactyly, distinctive palatal vault, Class III malocclusion, missing teeth, microdontia, and delayed dental formation. Dental treatment under GA was conducted with concerns of risk of respiratory insufficiency. Oral home care by the parent and regular recall visits were essential to maintain good oral health. Children with ZS may survive into late childhood. They, however, present multiple health problems that are of special concern for not only the pediatric dentist but also the anesthesiologist. Collaboration with the medical team is essential for optimal care of these patients. ©2012 Special Care Dentistry Association and Wiley Periodicals, Inc.

Disease-related and drug-induced skin manifestations in inflammatory bowel disease.

PubMed

Hindryckx, Pieter; Novak, Gregor; Costanzo, Antonio; Danese, Silvio

2017-03-01

Skin manifestations are common in patients with inflammatory bowel diseases (IBD) and can be part of a concomitant illness with a shared genetic background, an extra-intestinal manifestation of the disease, or a drug side-effect. Areas covered: We provide a practical overview of the epidemiology, pathogenesis, diagnosis, therapeutic approach and prognosis of the most frequent disease-related and drug-induced cutaneous manifestations in IBD, illustrated by cases encountered in our clinical practice. Among the most frequently encountered IBD-related lesions are erythema nodosum, pyoderma gangrenosum and Sweet's syndrome. Common skin manifestations with a strong association to TNF antagonists are local injection site reactions, psoriasiform lesions, cutaneous infections, vasculitides and lupus-like syndromes. In addition, we discuss the relation of thiopurines and TNF antagonists with the risk of skin cancer. Expert commentary: We hope this review will help caretakers involved in the management of IBD patients to recognize the lesions and to manage them in close collaboration with a dedicated dermatologist.

Investigation of 95 variants identified in a genome-wide study for association with mortality after acute coronary syndrome

PubMed Central

2011-01-01

Background Genome-wide association studies (GWAS) have identified new candidate genes for the occurrence of acute coronary syndrome (ACS), but possible effects of such genes on survival following ACS have yet to be investigated. Methods We examined 95 polymorphisms in 69 distinct gene regions identified in a GWAS for premature myocardial infarction for their association with post-ACS mortality among 811 whites recruited from university-affiliated hospitals in Kansas City, Missouri. We then sought replication of a positive genetic association in a large, racially diverse cohort of myocardial infarction patients (N = 2284) using Kaplan-Meier survival analyses and Cox regression to adjust for relevant covariates. Finally, we investigated the apparent association further in 6086 additional coronary artery disease patients. Results After Cox adjustment for other ACS risk factors, of 95 SNPs tested in 811 whites only the association with the rs6922269 in MTHFD1L was statistically significant, with a 2.6-fold mortality hazard (P = 0.007). The recessive A/A genotype was of borderline significance in an age- and race-adjusted analysis of the entire combined cohort (N = 3095; P = 0.052), but this finding was not confirmed in independent cohorts (N = 6086). Conclusions We found no support for the hypothesis that the GWAS-identified variants in this study substantially alter the probability of post-ACS survival. Large-scale, collaborative, genome-wide studies may be required in order to detect genetic variants that are robustly associated with survival in patients with coronary artery disease. PMID:21957892

Development and Initial Validation of the Macrophage Activation Syndrome/Primary Hemophagocytic Lymphohistiocytosis Score, a Diagnostic Tool that Differentiates Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome.

PubMed

Minoia, Francesca; Bovis, Francesca; Davì, Sergio; Insalaco, Antonella; Lehmberg, Kai; Shenoi, Susan; Weitzman, Sheila; Espada, Graciela; Gao, Yi-Jin; Anton, Jordi; Kitoh, Toshiyuki; Kasapcopur, Ozgur; Sanner, Helga; Merino, Rosa; Astigarraga, Itziar; Alessio, Maria; Jeng, Michael; Chasnyk, Vyacheslav; Nichols, Kim E; Huasong, Zeng; Li, Caifeng; Micalizzi, Concetta; Ruperto, Nicolino; Martini, Alberto; Cron, Randy Q; Ravelli, Angelo; Horne, AnnaCarin

2017-10-01

To develop and validate a diagnostic score that assists in discriminating primary hemophagocytic lymphohistiocytosis (pHLH) from macrophage activation syndrome (MAS) related to systemic juvenile idiopathic arthritis. The clinical, laboratory, and histopathologic features of 362 patients with MAS and 258 patients with pHLH were collected in a multinational collaborative study. Eighty percent of the population was assessed to develop the score and the remaining 20% constituted the validation sample. Variables that entered the best fitted model of logistic regression were assigned a score, based on their statistical weight. The MAS/HLH (MH) score was made up with the individual scores of selected variables. The cutoff in the MH score that discriminated pHLH from MAS best was calculated by means of receiver operating characteristic curve analysis. Score performance was examined in both developmental and validation samples. Six variables composed the MH score: age at onset, neutrophil count, fibrinogen, splenomegaly, platelet count, and hemoglobin. The MH score ranged from 0 to 123, and its median value was 97 (1st-3rd quartile 75-123) and 12 (1st-3rd quartile 11-34) in pHLH and MAS, respectively. The probability of a diagnosis of pHLH ranged from <1% for a score of <11 to >99% for a score of  ≥123. A cutoff value of ≥60 revealed the best performance in discriminating pHLH from MAS. The MH score is a powerful tool that may aid practitioners to identify patients who are more likely to have pHLH and, thus, could be prioritized for functional and genetic testing. Copyright © 2017 Elsevier Inc. All rights reserved.

A simplified quantitative method for assessing keratoconjunctivitis sicca from the Sjögren's Syndrome International Registry.

PubMed

Whitcher, John P; Shiboski, Caroline H; Shiboski, Stephen C; Heidenreich, Ana Maria; Kitagawa, Kazuko; Zhang, Shunhua; Hamann, Steffen; Larkin, Genevieve; McNamara, Nancy A; Greenspan, John S; Daniels, Troy E

2010-03-01

To describe, apply, and test a new ocular grading system for assessing keratoconjunctivitis sicca (KCS) using lissamine green and fluorescein. Prospective, observational, multicenter cohort study. The National Institutes of Health-funded Sjögren's Syndrome International Registry (called Sjögren's International Collaborative Clinical Alliance [SICCA]) is developing standardized classification criteria for Sjögren syndrome (SS) and is creating a biospecimen bank for future research. Eight SICCA ophthalmologists developed a new quantitative ocular grading system (SICCA ocular staining score [OSS]), and we analyzed OSS distribution among the SICCA cohort and its association with other phenotypic characteristics of SS. The SICCA cohort includes participants ranging from possibly early SS to advanced disease. Procedures include sequenced unanesthetized Schirmer test, tear break-up time, ocular surface staining, and external eye examination at the slit lamp. Using statistical analyses and proportional Venn diagrams, we examined interrelationships between abnormal OSS (>or=3) and other characteristics of SS (labial salivary gland [LSG] biopsy with focal lymphocytic sialadenitis and focus score >1 positive anti-SS A antibodies, anti-SS B antibodies, or both). Among 1208 participants, we found strong associations between abnormal OSS, positive serologic results, and positive LSG focus scores (P < .0001). Analysis of the overlapping relationships of these 3 measures defined a large group of participants who had KCS without other components of SS, representing a clinical entity distinct from the KCS associated with SS. This new method for assessing KCS will become the means for diagnosing the ocular component of SS in future classification criteria. We find 2 forms of KCS whose causes may differ. (c) 2010 Elsevier Inc. All rights reserved.

Risk of Guillain–Barré syndrome following pandemic influenza A(H1N1) 2009 vaccination in Germany†

PubMed Central

Prestel, Jürgen; Volkers, Peter; Mentzer, Dirk; Lehmann, Helmar C; Hartung, Hans-Peter; Keller-Stanislawski, Brigitte

2014-01-01

Purpose A prospective, epidemiologic study was conducted to assess whether the 2009 pandemic influenza A(H1N1) vaccination in Germany almost exclusively using an AS03-adjuvanted vaccine (Pandemrix) impacts the risk of Guillain–Barré syndrome (GBS) and its variant Fisher syndrome (FS). Methods Potential cases of GBS/FS were reported by 351 participating hospitals throughout Germany. The self-controlled case series methodology was applied to all GBS/FS cases fulfilling the Brighton Collaboration (BC) case definition (levels 1–3 of diagnostic certainty) with symptom onset between 1 November 2009 and 30 September 2010 reported until end of December 2010. Results Out of 676 GBS/FS reports, in 30 cases, GBS/FS (BC levels 1–3) occurred within 150 days following influenza A(H1N1) vaccination. The relative incidence of GBS/FS within the primary risk period (days 5–42 post-vaccination) compared with the control period (days 43–150 post-vaccination) was 4.65 (95%CI [2.17, 9.98]). Similar results were found when stratifying for infections within 3 weeks prior to onset of GBS/FS and when excluding cases with additional seasonal influenza vaccination. The overall result of temporally adjusted analyses supported the primary finding of an increased relative incidence of GBS/FS following influenza A(H1N1) vaccination. Conclusions The results indicate an increased risk of GBS/FS in temporal association with pandemic influenza A(H1N1) vaccination in Germany. © 2014 The Authors. Pharmacoepidemiology and Drug Safety published by John Wiley & Sons, Ltd. PMID:24817531

Achieving consensus for clinical trials

PubMed Central

Blakeley, Jaishri O.; Dombi, Eva; Fisher, Michael J.; Hanemann, C. Oliver; Walsh, Karin S.; Wolters, Pamela L.; Widemann, Brigitte C.

2013-01-01

The neurofibromatoses (NF)—including neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis—are related tumor-suppressor syndromes characterized by a predisposition to multiple tumor types and other disease manifestations, which often result in functional disability, reduced quality of life, pain, and, in some cases, malignancy. With increasing knowledge of the biology and pathogenesis of NF, clinical trials with targeted agents directed at NF tumors have become available. Most clinical trials for patients with NF have used designs and endpoints similar to oncology trials. However, differences in the disease manifestations and natural history of NF (compared to cancers) require the development of new designs and endpoints to perform meaningful NF clinical trials. The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration was established in 2011 at the Children's Tumor Foundation meeting to achieve consensus within the NF community about the design of future clinical trials, with a specific emphasis on endpoints. The REiNS Collaboration includes 7 working groups that focus on imaging of tumor response; functional, visual, patient-reported, and neurocognitive outcomes; whole-body MRI; and disease biomarkers. This supplement includes the first series of recommendations by the REiNS Collaboration. The hope is that these recommendations will be used by members of the group and by researchers outside of the REiNS International Collaboration to standardize the measurement of outcomes and thus improve clinical trials for patients with NF. Ultimately, we plan to engage industry partners and national regulatory agencies in this process to facilitate the approval of drugs for patients with NF. PMID:24249801

Support to students with Asperger syndrome in higher education--the perspectives of three relatives and three coordinators.

PubMed

Fleischer, Ann Simmeborn

2012-03-01

An increasing number of students with disabilities attend institutes of higher education (HE). Among this group are persons with Asperger syndrome (AS). Persons with AS have a cognitive impairment that can interfere with their studies and the ability to describe their needs and ask for support. This study deals with an assessment of the support services for students with AS from the perspectives of the students' relatives and the students' service providers at the universities they attend. The aim of this study was to investigate (a) earlier experiences and events in relation to the transition of students with AS to higher education, according to the relatives' perceptions of how these experiences and events affect university studies; and (b) the perceptions of both the relatives of students with AS and the coordinators for students with disabilities with respect to the study environment and support for students with AS. The approach is a case study methodology involving relatives and university coordinators for three students with AS. The coordinators' way of working with students with disabilities is primarily based on the coordinators' own ideas. No specific organizational routines exist for students with AS. The results reveal that the needs of students with AS have to be made explicit and must be incorporated into the support system. Relatives lack information about the situation and opportunities to engage in collaboration. Universities must adapt the support system to the cognitive impairments experienced by AS students and the difficulties of their everyday lives. The relatives of students with AS may play the central role in supporting the students and in understanding their impairment.

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

PubMed

Le Quesne Stabej, Polona; Saihan, Zubin; Rangesh, Nell; Steele-Stallard, Heather B; Ambrose, John; Coffey, Alison; Emmerson, Jenny; Haralambous, Elene; Hughes, Yasmin; Steel, Karen P; Luxon, Linda M; Webster, Andrew R; Bitner-Glindzicz, Maria

2012-01-01

Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis pigmentosa, hearing loss and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous with three distinctive clinical types (I-III) and nine Usher genes identified. This study is a comprehensive clinical and genetic analysis of 172 Usher patients and evaluates the contribution of digenic inheritance. The genes MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, WHRN, CLRN1 and the candidate gene SLC4A7 were sequenced in 172 UK Usher patients, regardless of clinical type. No subject had definite mutations (nonsense, frameshift or consensus splice site mutations) in two different USH genes. Novel missense variants were classified UV1-4 (unclassified variant): UV4 is 'probably pathogenic', based on control frequency <0.23%, identification in trans to a pathogenic/probably pathogenic mutation and segregation with USH in only one family; and UV3 ('likely pathogenic') as above, but no information on phase. Overall 79% of identified pathogenic/UV4/UV3 variants were truncating and 21% were missense changes. MYO7A accounted for 53.2%, and USH1C for 14.9% of USH1 families (USH1C:c.496+1G>A being the most common USH1 mutation in the cohort). USH2A was responsible for 79.3% of USH2 families and GPR98 for only 6.6%. No mutations were found in USH1G, WHRN or SLC4A7. One or two pathogenic/likely pathogenic variants were identified in 86% of cases. No convincing cases of digenic inheritance were found. It is concluded that digenic inheritance does not make a significant contribution to Usher syndrome; the observation of multiple variants in different genes is likely to reflect polymorphic variation, rather than digenic effects.

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

PubMed Central

Le Quesne Stabej, Polona; Saihan, Zubin; Rangesh, Nell; Steele-Stallard, Heather B; Ambrose, John; Coffey, Alison; Emmerson, Jenny; Haralambous, Elene; Hughes, Yasmin; Steel, Karen P; Luxon, Linda M; Webster, Andrew R

2011-01-01

Background Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis pigmentosa, hearing loss and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous with three distinctive clinical types (I–III) and nine Usher genes identified. This study is a comprehensive clinical and genetic analysis of 172 Usher patients and evaluates the contribution of digenic inheritance. Methods The genes MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, WHRN, CLRN1 and the candidate gene SLC4A7 were sequenced in 172 UK Usher patients, regardless of clinical type. Results No subject had definite mutations (nonsense, frameshift or consensus splice site mutations) in two different USH genes. Novel missense variants were classified UV1-4 (unclassified variant): UV4 is ‘probably pathogenic’, based on control frequency <0.23%, identification in trans to a pathogenic/probably pathogenic mutation and segregation with USH in only one family; and UV3 (‘likely pathogenic’) as above, but no information on phase. Overall 79% of identified pathogenic/UV4/UV3 variants were truncating and 21% were missense changes. MYO7A accounted for 53.2%, and USH1C for 14.9% of USH1 families (USH1C:c.496+1G>A being the most common USH1 mutation in the cohort). USH2A was responsible for 79.3% of USH2 families and GPR98 for only 6.6%. No mutations were found in USH1G, WHRN or SLC4A7. Conclusions One or two pathogenic/likely pathogenic variants were identified in 86% of cases. No convincing cases of digenic inheritance were found. It is concluded that digenic inheritance does not make a significant contribution to Usher syndrome; the observation of multiple variants in different genes is likely to reflect polymorphic variation, rather than digenic effects. PMID:22135276

Collaboration Expertise in Medicine - No Evidence for Cross-Domain Application from a Memory Retrieval Study

PubMed Central

Kiesewetter, Jan; Fischer, Frank; Fischer, Martin R.

2016-01-01

Background Is there evidence for expertise on collaboration and, if so, is there evidence for cross-domain application? Recall of stimuli was used to measure so-called internal collaboration scripts of novices and experts in two studies. Internal collaboration scripts refer to an individual’s knowledge about how to interact with others in a social situation. Method—Study 1 Ten collaboration experts and ten novices of the content domain social science were presented with four pictures of people involved in collaborative activities. The recall texts were coded, distinguishing between superficial and collaboration script information. Results—Study 1 Experts recalled significantly more collaboration script information (M = 25.20; SD = 5.88) than did novices (M = 13.80; SD = 4.47). Differences in superficial information were not found. Study 2 Study 2 tested whether the differences found in Study 1 could be replicated. Furthermore, the cross-domain application of internal collaboration scripts was explored. Method—Study 2 Twenty collaboration experts and 20 novices of the content domain medicine were presented with four pictures and four videos of their content domain and a video and picture of another content domain. All stimuli showed collaborative activities typical for the respective content domains. Results—Study 2 As in Study 1, experts recalled significantly more collaboration script information of their content domain (M = 71.65; SD = 33.23) than did novices (M = 54.25; SD = 15.01). For the novices, no differences were found for the superficial information nor for the retrieval of collaboration script information recalled after the other content domain stimuli. Discussion There is evidence for expertise on collaboration in memory tasks. The results show that experts hold substantially more collaboration script information than did novices. Furthermore, the differences between collaboration novices and collaboration experts occurred only in their own content domain, indicating that internal collaboration scripts are not easily stored and retrieved in memory tasks other than in the own content domain. PMID:26866801

The Effect of Endothelin Receptor Antagonists in Patients with Eisenmenger Syndrome: A Systematic Review.

PubMed

Elshafay, Abdelrahman; Truong, Duy Hieu; AboElnas, Mohamed M; Idrees, Hossam; Metwali, Hatem G; Vuong, Nguyen Lam; Saad, Omar Ahmed; Hirayama, Kenji; Huy, Nguyen Tien

2018-04-01

The efficacy of endothelin receptor antagonists (ERAs) in the management of Eisenmenger syndrome (ES) remains controversial. The aim of this study is to systemically review the safety and effects of ERAs in improving the quality of life and basic cardiac functions of these patients. Twelve databases were searched, including PubMed, Web of Science, Scopus, Virtual Health Library, World Health Organization (WHO) Global Health Library, Google Scholar, POPLINE, Systems for Information of Grey Literature in Europe, New York Academy of Medicine, ClinicalTrials.gov, metaRegister of Controlled Trials and the WHO International Clinical Trials Registry Platform, through August 2016. We included randomized clinical trials addressing the effect of ERAs on cardiac functions in patients with ES. The quality of studies was assessed using the Cochrane Collaboration tool. We included two trials represented by four papers, of which three papers reported the efficacy of bosentan against placebo and one paper reported the results of a combination of bosentan and sildenafil versus placebo and bosentan. One trial showed a significant effect of bosentan treatment over placebo on indexed pulmonary vascular resistance and mean pulmonary artery pressure, but a non-significant increase in 6-min walk distance and a non-significant effect on systemic pulse oximetry. The other trial reported the safe but non-significant effect of combination therapy of bosentan and sildenafil compared with bosentan and placebo. This study demonstrated safety and improved hemodynamic effects of bosentan in ES, with a controversial effect on exercise capacity. Further randomized controlled trials with longer follow-up duration are needed to confirm these results.

Health status, quality of life and medical care in adult women with Turner syndrome

PubMed Central

Diana-Alexandra, Ertl; Andreas, Gleiss; Katharina, Schubert; Caroline, Culen; Peer, Hauck; Johannes, Ott; Alois, Gessl; Gabriele, Haeusler

2018-01-01

Background Previous studies have shown that only a minority of patients with Turner syndrome (TS) have adequate medical care after transfer to adult care. Aim of this study To assess the status of medical follow-up and quality of life (QoL) in adult women diagnosed with TS and followed up until transfer. To compare the subjective and objective view of the medical care quality and initiate improvements based on patients’ experiences and current recommendations. Methods 39 adult women with TS out of 64 patients contacted were seen for a clinical and laboratory check, cardiac ultrasound, standardized and structured questionnaires (SF-36v2 and Beck depression inventory). Results 7/39 of the patients were not being followed medically at all. Only 2/39 consulted all the specialists recommended. Comorbidities were newly diagnosed in 27/39 patients; of these, 11 related to the cardiovascular system. Patients in our cohort scored as high as the mean reference population for SF-36v2 in both mental and physical compartments. Obese participants had lower scores in the physical function section, whereas higher education was related to higher physical QoL scores. Adult height slightly correlated positively with physical health. Conclusion Medical follow-up was inadequate in our study cohort of adults with TS. Even though their medical follow-up was insufficient, these women felt adequately treated, leaving them vulnerable for premature illness. Initiatives in health autonomy and a structured transfer process as well as closer collaborations within specialities are urgently needed. PMID:29514898

Effect of Yoga in the Therapy of Irritable Bowel Syndrome: A Systematic Review.

PubMed

Schumann, Dania; Anheyer, Dennis; Lauche, Romy; Dobos, Gustav; Langhorst, Jost; Cramer, Holger

2016-12-01

This review aims to systematically survey the effects of yoga on symptoms of irritable bowel syndrome (IBS), pain, quality of life, mood, stress, and safety in patients with IBS. MEDLINE/Pubmed, Scopus, the Cochrane Library, CAM-QUEST, CAMbase, and IndMED were screened through November 2015. Randomized controlled trials comparing yoga with usual care, nonpharmacologic, or pharmacologic interventions were analyzed for patients with IBS. Primary outcomes included gastrointestinal symptoms, quality of life, and pain. Anxiety, mood, and safety were defined as secondary outcomes. Risk of bias was assessed according to the Cochrane Collaboration recommendations. Six randomized controlled trials with a total of 273 patients were included in the qualitative analysis. There was evidence for a beneficial effect of a yogic intervention over conventional treatment in IBS, with significantly decreased bowel symptoms, IBS severity, and anxiety. Furthermore, there were significant improvements in quality of life, global improvement, and physical functioning after yoga compared with no treatment. Two randomized controlled trials reported safety data stating that no adverse events occurred. Overall, risk of bias of the included studies was unclear. The findings of this systematic review suggest that yoga might be a feasible and safe adjunctive treatment for people with IBS. Nevertheless, no recommendation can be made regarding yoga as a routine intervention for patients with IBS because of major flaws in study methods. More research is needed with respect to a high-quality study design and consensus in clinical outcome measurements in IBS. ClinicalTrials.gov number, NCT02721836. Copyright © 2016 AGA Institute. Published by Elsevier Inc. All rights reserved.

Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder

PubMed Central

Abdulkadir, Mohamed; Tischfield, Jay A.; King, Robert A.; Fernandez, Thomas V.; Brown, Lawrence W.; Cheon, Keun-Ah; Coffey, Barbara J.; de Bruijn, Sebastian F. T. M.; Elzerman, Lonneke; Garcia-Delgar, Blanca; Gilbert, Donald L.; Grice, Dorothy E.; Hagstrøm, Julie; Hedderly, Tammy; Heyman, Isobel; Hong, Hyun Ju; Huyser, Chaim; Ibanez-Gomez, Laura; Kim, Young Key; Kim, Young-Shin; Koh, Yun-Joo; Kook, Sodahm; Kuperman, Samuel; Lamerz, Andreas; Leventhal, Bennett; Ludolph, Andrea G.; Madruga-Garrido, Marcos; Maras, Athanasios; Messchendorp, Marieke D.; Mir, Pablo; Morer, Astrid; Münchau, Alexander; Murphy, Tara L.; Openneer, Thaïra J. C.; Plessen, Kerstin J.; Rath, Judith J. G.; Roessner, Veit; Fründt, Odette; Shin, Eun-Young; Sival, Deborah A.; Song, Dong-Ho; Song, Jungeun; Stolte, Anne-Marie; Tübing, Jennifer; van den Ban, Els; Visscher, Frank; Wanderer, Sina; Woods, Martin; Zinner, Samuel H.; State, Matthew W.; Heiman, Gary A.; Hoekstra, Pieter J.; Dietrich, Andrea

2016-01-01

Pre- and perinatal complications have been implicated in the onset and clinical expression of Tourette syndrome albeit with considerable inconsistencies across studies. Also, little is known about their role in co-occurring obsessive-compulsive disorder (OCD) and attention–deficit/hyperactivity disorder (ADHD) in individuals with a tic disorder. Therefore, we aimed to investigate the role of pre- and perinatal complications in relation to the presence and symptom severity of chronic tic disorder and co-occurring OCD and ADHD using data of 1,113 participants from the Tourette International Collaborative Genetics study. This study included 586 participants with a chronic tic disorder and 527 unaffected family controls. We controlled for age and sex differences by creating propensity score matched subsamples for both case-control and within-case analyses. We found that premature birth (OR=1.72) and morning sickness requiring medical attention (OR=2.57) were associated with the presence of a chronic tic disorder. Also, the total number of pre- and perinatal complications was higher in those with a tic disorder (OR=1.07). Furthermore, neonatal complications were related to the presence (OR=1.46) and severity (b=2.27) of co-occurring OCD and also to ADHD severity (b=1.09). Delivery complications were only related to co-occurring OCD (OR=1.49). We conclude that early exposure to adverse situations during pregnancy is related to the presence of chronic tic disorders. Exposure at a later stage, at birth or during the first weeks of life, appears to be associated with co-occurring OCD and ADHD. PMID:27494079

[Infertility and breast cancer: Is there a link? Updated review of the literature and meta-analysis].

PubMed

Gabriele, V; Gapp-Born, E; Ohl, J; Akladios, C; Mathelin, C

2016-02-01

The objective of this review was to assess the level of risk of breast cancer of patients consulting for infertility. Studies of cohorts and case-control were extracted from the Pubmed database from January 2000 until May 2015 through the following keywords: "infertility"; "endometriosis"; "polycystic ovary syndrome"; "breast cancer", "cancer risk". Eleven publications were finally selected after exclusion of publications dealing with infertility after breast cancer. Our meta-analysis, involving 10 of these publications, was performed using Review Manager software, Cochrane Collaboration, 2014. The results were calculated by etiology of infertility, polycystic ovary syndrome (PCOS) and endometriosis, as well as globally. The analysis of these published epidemiological studies confirms that infertility is not a breast cancer risk factor, but the results are contradictory. Three studies have shown a significantly increased risk of breast cancer in a population of infertile women, while 7 others have not found this risk. These contradictions are due to the heterogeneity of the studies, the included populations, the follow-up periods and confounding factors. Our meta-analysis of the selected studies has not identified a significant association between infertility and breast cancer risk (1.05; 95% CI [0.96-1.16]). A subgroup analysis on endometriosis and PCOS showed no significant association either, with an OR of 1.02 (95% CI [0.87-1.19]) and 1.19 (95% CI [0.93-1.51]), respectively. Infertility is not an identified risk factor for breast cancer. A message reassuring about a possible risk of infertility-related breast cancer should be given to these patients. Infertility is therefore not an indication of increased breast surveillance. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Current advancements in the diagnosis and treatment of chronic pelvic pain.

PubMed

Morrissey, Darlene; Ginzburg, Natasha; Whitmore, Kristene

2014-07-01

The diagnosis and treatment of chronic pelvic pain (CPP) have moved away from targeting a specific organ to multifactorial and multidisciplinary individualized approach to treatment strategies. The purpose of this article is to review the current advancements in diagnosis and treatment of CPP. Recognition that response to current treatment approach to CPP syndrome is variable; organizations such as the European Association of Urology, American Urologic Association, International Continence Society, International Association for the Study of Pain, and others have integrated the most current evidence and management strategies from multiple specialties (urology, gynecology, pain medicine, gastroenterology, colorectal surgery, neurology, physiotherapy, and psychology). The 1 World Congress on Pelvic Pain met in 2013 to further collaborate on diagnosis and management of CPP. A multimodal clinical phenotype system has also been implemented to help understand cause and guide therapy. New classification systems allow for overlap of mechanisms between conditions and a multidisciplinary treatment approach.

An interdisciplinary approach to personalized medicine: case studies from a cardiogenetics clinic.

PubMed

Erskine, Kathleen E; Griffith, Eleanor; Degroat, Nicole; Stolerman, Marina; Silverstein, Louise B; Hidayatallah, Nadia; Wasserman, David; Paljevic, Esma; Cohen, Lilian; Walsh, Christine A; McDonald, Thomas; Marion, Robert W; Dolan, Siobhan M

2013-01-01

In the genomic age, the challenges presented by various inherited conditions present a compelling argument for an interdisciplinary model of care. Cardiac arrhythmias with a genetic basis, such as long QT syndrome, require clinicians with expertise in many specialties to address the complex genetic, psychological, ethical and medical issues involved in treatment. The Montefiore-Einstein Center for CardioGenetics has been established to provide personalized, interdisciplinary care for families with a history of sudden cardiac death or an acute cardiac event. Four vignettes of patient care are presented to illustrate the unique capacity of an interdisciplinary model to address genetic, psychological, ethical and medical issues. Because interdisciplinary clinics facilitate collaboration among multiple specialties, they allow for individualized, comprehensive care to be delivered to families who experience complex inherited medical conditions. As the genetic basis of many complex conditions is discovered, the advantages of an interdisciplinary approach for delivering personalized medicine will become more evident.

Functions and regulation of the multitasking FANCM family of DNA motor proteins.

PubMed

Xue, Xiaoyu; Sung, Patrick; Zhao, Xiaolan

2015-09-01

Members of the conserved FANCM family of DNA motor proteins play key roles in genome maintenance processes. FANCM supports genome duplication and repair under different circumstances and also functions in the ATR-mediated DNA damage checkpoint. Some of these roles are shared among lower eukaryotic family members. Human FANCM has been linked to Fanconi anemia, a syndrome characterized by cancer predisposition, developmental disorder, and bone marrow failure. Recent studies on human FANCM and its orthologs from other organisms have provided insights into their biological functions, regulation, and collaboration with other genome maintenance factors. This review summarizes the progress made, with the goal of providing an integrated view of the functions and regulation of these enzymes in humans and model organisms and how they advance our understanding of genome maintenance processes. © 2015 Xue et al.; Published by Cold Spring Harbor Laboratory Press.

Acquired immunodeficiency syndrome — an assessment of the present situation in the world: Memorandum from a WHO Meeting*

PubMed Central

1984-01-01

A consultative meeting was convened by the World Health Organization in Geneva on 22-25 November 1983 to assess the present situation of AIDS (the acquired immunodeficiency syndrome) in the world and to encourage collaboration between the different nations affected by this disease. AIDS was first reported in the USA in 1981, but probably existed there as early as 1978. Soon after its recognition in the USA, similar cases were identified in other areas of the world. In most western European countries and Canada, the epidemiological pattern is very similar to that in the United States, the majority of cases being in homosexual men. In other areas such as equatorial Africa and the Caribbean, the pattern seems to be different with no identifiable risk factors for the majority of cases. The disease is manifested by opportunistic infections and/or selected malignancies, with apparent differences in the clinical presentation between the cases in North America and Europe, on the one hand, and those in the tropics. To date there is no treatment that has significantly improved the underlying cellular immune deficiency, and the mortality is very high. The etiology of AIDS is unknown, but the epidemiological pattern is most consistent with its being caused by a transmissible agent; retroviruses come on top of the list of candidate agents. Despite the unknown etiology and the lack of laboratory diagnostic tests, sufficient information is available to permit health authorities to make recommendations that may reduce appreciably the incidence of the disease. AIDS is an important health problem in a number of countries and has international implications. Collaborative laboratory, epidemiological and clinical research between countries is needed to accelerate control efforts. In the meantime, WHO will coordinate exchange of information among countries. ImagesFig. 1 PMID:6331905

Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain

PubMed Central

Tejada, María-Isabel; Glover, Guillermo; Martínez, Francisco; Guitart, Miriam; de Diego-Otero, Yolanda; Fernández-Carvajal, Isabel; Ramos, Feliciano J.; Hernández-Chico, Concepción; Pintado, Elizabet; Rosell, Jordi; Calvo, María-Teresa; Ayuso, Carmen; Ramos-Arroyo, María-Antonia; Maortua, Hiart; Milà, Montserrat

2014-01-01

Fragile X syndrome is the most common inherited form of intellectual disability. Here we report on a study based on a collaborative registry, involving 12 Spanish centres, of molecular diagnostic tests in 1105 fragile X families comprising 5062 individuals, of whom, 1655 carried a full mutation or were mosaic, three cases had deletions, 1840 had a premutation, and 102 had intermediate alleles. Two patients with the full mutation also had Klinefelter syndrome. We have used this registry to assess the risk of expansion from parents to children. From mothers with premutation, the overall rate of allele expansion to full mutation is 52.5%, and we found that this rate is higher for male than female offspring (63.6% versus 45.6%; P < 0.001). Furthermore, in mothers with intermediate alleles (45–54 repeats), there were 10 cases of expansion to a premutation allele, and for the smallest premutation alleles (55–59 repeats), there was a 6.4% risk of expansion to a full mutation, with 56 repeats being the smallest allele that expanded to a full mutation allele in a single meiosis. Hence, in our series the risk for alleles of <59 repeats is somewhat higher than in other published series. These findings are important for genetic counselling. PMID:24987673

Communicating with pediatricians about complementary/alternative medicine: perspectives from parents of children with down syndrome.

PubMed

Prussing, Erica; Sobo, Elisa J; Walker, Elizabeth; Dennis, Kimberly; Kurtin, Paul S

2004-01-01

Barriers to communication about complementary/alternative medicine (CAM) between parents and pediatricians are frequently documented, yet the scope of these barriers remains poorly understood. Such barriers are especially troubling when they involve children with special health needs, among whom CAM use is especially common. This pilot study of parents of children with Down syndrome (DS) used qualitative methods to explore parents' perceptions of the extent and quality of communication about CAM with pediatricians, to elicit parents' recommendations for improvement, and to formulate new research questions. Semistructured interviews were conducted with parents from 30 families with children with DS. Data were audiotaped and analyzed with assistance from qualitative data analysis software. Parents described how they advocated vigorously with their pediatricians about biomedical concerns such as the American Academy of Pediatrics healthcare guidelines for DS, but often avoided discussion of nonbiomedical concerns such as CAM. Many parents looked to pediatricians to initiate conversations about CAM. Even parents who assertively advocate for biomedical concerns in their children's health care may be unlikely to disclose and discuss CAM use with their pediatricians. Attending to parents' experiences helps to illuminate the nature and scope of current communication barriers and poses new research questions for assessing and improving parent-physician collaboration about health-related issues that may be prioritized differently by parents and pediatricians.

Consensus on the standardization of terminology in thrombotic thrombocytopenic purpura and related thrombotic microangiopathies.

PubMed

Scully, M; Cataland, S; Coppo, P; de la Rubia, J; Friedman, K D; Kremer Hovinga, J; Lämmle, B; Matsumoto, M; Pavenski, K; Sadler, E; Sarode, R; Wu, H

2017-02-01

Essentials An international collaboration provides a consensus for clinical definitions. This concerns thrombotic microangiopathies and thrombotic thrombocytopenic purpura (TTP). The consensus defines diagnosis, disease monitoring and response to treatment. Requirements for ADAMTS-13 are given. Background Thrombotic thrombocytopenic purpura (TTP) and hemolytic-uremic syndrome (HUS) are two important acute conditions to diagnose. Thrombotic microangiopathy (TMA) is a broad pathophysiologic process that leads to microangiopathic hemolytic anemia and thrombocytopenia, and involves capillary and small-vessel platelet aggregates. The most common cause is disseminated intravascular coagulation, which may be differentiated by abnormal coagulation. Clinically, a number of conditions present with microangiopathic hemolytic anemia and thrombocytopenia, including cancer, infection, transplantation, drug use, autoimmune disease, and pre-eclampsia and hemolysis, elevated liver enzymes and low platelet count syndrome in pregnancy. Despite overlapping clinical presentations, TTP and HUS have distinct pathophysiologies and treatment pathways. Objectives To present a consensus document from an International Working Group on TTP and associated thrombotic microangiopathies (TMAs). Methods The International Working Group has proposed definitions and terminology based on published information and consensus-based recommendations. Conclusion The consensus aims to aid clinical decisions, but also future studies and trials, utilizing standardized definitions. It presents a classification of the causes of TMA, and criteria for clinical response, remission and relapse of congenital and immune-mediated TTP. © 2016 International Society on Thrombosis and Haemostasis.

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

PubMed

Tham, Emma; Lindstrand, Anna; Santani, Avni; Malmgren, Helena; Nesbitt, Addie; Dubbs, Holly A; Zackai, Elaine H; Parker, Michael J; Millan, Francisca; Rosenbaum, Kenneth; Wilson, Golder N; Nordgren, Ann

2015-03-05

Through a multi-center collaboration study, we here report six individuals from five unrelated families, with mutations in KAT6A/MOZ detected by whole-exome sequencing. All five different de novo heterozygous truncating mutations were located in the C-terminal transactivation domain of KAT6A: NM_001099412.1: c.3116_3117 delCT, p.(Ser1039∗); c.3830_3831insTT, p.(Arg1278Serfs∗17); c.3879 dupA, p.(Glu1294Argfs∗19); c.4108G>T p.(Glu1370∗) and c.4292 dupT, p.(Leu1431Phefs∗8). An additional subject with a 0.23 MB microdeletion including the entire KAT6A reading frame was identified with genome-wide array comparative genomic hybridization. Finally, by detailed clinical characterization we provide evidence that heterozygous mutations in KAT6A cause a distinct intellectual disability syndrome. The common phenotype includes hypotonia, intellectual disability, early feeding and oromotor difficulties, microcephaly and/or craniosynostosis, and cardiac defects in combination with subtle facial features such as bitemporal narrowing, broad nasal tip, thin upper lip, posteriorly rotated or low-set ears, and microretrognathia. The identification of human subjects complements previous work from mice and zebrafish where knockouts of Kat6a/kat6a lead to developmental defects. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Cumulative Risk of Guillain–Barré Syndrome Among Vaccinated and Unvaccinated Populations During the 2009 H1N1 Influenza Pandemic

PubMed Central

Iqbal, Shahed; Stewart, Brock; Tokars, Jerome; DeStefano, Frank

2014-01-01

Objectives. We sought to assess risk of Guillain–Barré syndrome (GBS) among influenza A (H1N1) 2009 monovalent (pH1N1) vaccinated and unvaccinated populations at the end of the 2009 pandemic. Methods. We applied GBS surveillance data from a US population catchment area of 45 million from October 15, 2009, through May 31, 2010. GBS cases meeting Brighton Collaboration criteria were included. We calculated the incidence density ratio (IDR) among pH1N1 vaccinated and unvaccinated populations. We also estimated cumulative GBS risk using life table analysis. Additionally, we used vaccine coverage data and census population estimates to calculate denominators. Results. There were 392 GBS cases; 64 (16%) occurred after pH1N1vaccination. The vaccinated population had lower average risk (IDR = 0.83, 95% confidence interval = 0.63, 1.08) and lower cumulative risk (6.6 vs 9.2 cases per million persons, P = .012) of GBS. Conclusions. Our findings suggest that at the end of the influenza season cumulative GBS risk was less among the pH1N1vaccinated than the unvaccinated population, suggesting the benefit of vaccination as it relates to GBS. The observed potential protective effect on GBS attributed to vaccination warrants further study. PMID:24524517

[Multicenter randomized trial of amnioinfusion].

PubMed

Fraser, W; Marcoux, S; Prendiville, W; Petrou, S; Hofmeyr, J; Reinharz, D; Goulet, C; Ohlsson, A

2000-05-01

Meconium staining of the amniotic fluid in labor is a frequent problem that is associated with an increase in the risk of neonatal and maternal morbidity. Amnioinfusion is a simple technique that is designed to prevent neonatal and maternal morbidity associated with meconium. Preliminary studies indicate that amnioinfusion is a promising approach to the prevention of such complications of labor. However, further research is required. The primary objective of this multi-centre randomized controlled study is to determine if amnioinfusion for thick meconium stained amniotic fluid results in a reduction in perinatal death or moderate to severe meconium aspiration syndrome. We will also assess the effects of amnioinfusion on other indicators of neonatal morbidity and on cesarean section. The study includes an evaluation of womens views on their childbirth experience and an economic evaluation of a policy of amnioinfusion The study will be achieved with the collaboration of approximately 50 obstetrical centres from across Canada, US, Europe, South America and South Africa. This multicentre trial will provide urgently needed information on the efficacy and effectiveness of amniofusion for the indication of meconium stained amniotic fluid.

Collaboration in Distance Education. International Case Studies.

ERIC Educational Resources Information Center

Moran, Louise, Ed.; Mugridge, Ian, Ed.

This book contains nine case studies of collaboration in distance education. The case studies focus on such aspects of collaboration in distance education as the following: roles of individual institutional partners; importance of personal relationships; benefits of collaboration to individual partners; conflicts between collaboration and…

Effects of Stress on Critical Care Nurses: A National Cross-Sectional Study.

PubMed

Vahedian-Azimi, Amir; Hajiesmaeili, Mohammadreza; Kangasniemi, Mari; Fornés-Vives, Joana; Hunsucker, Rita L; Rahimibashar, Farshid; Pourhoseingholi, Mohammad A; Farrokhvar, Leily; Miller, Andrew C

2017-01-01

Health care is a demanding field, with a high level of responsibility and exposure to emotional and physical danger. High levels of stress may result in depression, anxiety, burnout syndrome, and in extreme cases, post-traumatic stress disorder. The aim of this study was to determine which personal, professional, and organizational variables are associated with greater perceived stress among critical care nurses for purposes of developing integrative solutions to decrease stress in the future. We conducted a correlation research survey using a cross-sectional design and an in-person survey method. The questionnaire consisted of 2 parts: (1) socioeconomic, professional, and institutional variables and (2) work stressors. Surveys were conducted between January 1, 2011, and December 1, 2015. Multistage cluster random sampling was utilized for data collection. Inclusion criteria were (1) age ≥18 years, (2) registered nurse, (3) works in the intensive care unit (ICU), and (4) willing and able to complete the survey. We surveyed 21 767 ICU nurses in Iran and found that male sex, lower levels of peer collaboration, working with a supervisor in the unit, nurse-patient ratios, and working in a surgical ICU were positively associated with greater stress levels. Increasing age and married status were negatively associated with stress. Intensive care unit type (semi-closed vs open), ICU bed number, shift time, working on holidays, education level, and demographic factors including body mass index, and number of children were not significantly associated with stress levels. As the largest study of its kind, these findings support those found in various European, North, and South American studies. Efforts to decrease workplace stress of ICU nurses by focusing on facilitating peer collaboration, improving resource availability, and staffing ratios are likely to show the greatest impact on stress levels.

Case studies of uncommon headaches.

PubMed

Evans, Randolph W

2006-05-01

The following interesting and uncommon headache disorders are presented through case studies: exploding head syndrome, hypnic headache, neck-tongue syndrome, "Alice in Wonderland" syndrome, nummular headache, red ear syndrome, burning mouth syndrome, spontaneous intracranial hypotension syndrome, and cardiac cephalalgia.

Librarian and Faculty Collaborative Instruction: A Phenomenological Self-Study

ERIC Educational Resources Information Center

Brown, Jennifer Diane; Duke, Thomas Scott

2005-01-01

Several models of librarian and faculty collaboration are found in the professional librarian literature. The literature on collaborative self-study research in university settings suggests collaborative self-study research can improve interdisciplinary and collaborative approaches to teaching and research and facilitate the transfer of knowledge.…

Growth Hormone Research Society Workshop Summary: Consensus Guidelines for Recombinant Human Growth Hormone Therapy in Prader-Willi Syndrome

PubMed Central

Tony, Michèle; Höybye, Charlotte; Allen, David B.; Tauber, Maïthé; Christiansen, Jens Sandahl; Ambler, Geoffrey R.; Battista, Renaldo; Beauloye, Véronique; Berall, Glenn; Biller, Beverly M. K.; Butler, Merlin G.; Cassidy, Suzanne B.; Chihara, Kazuo; Cohen, Pinchas; Craig, Maria; Farholt, Stense; Goetghebeur, Mireille; Goldstone, Anthony P.; Greggi, Tiziana; Grugni, Graziano; Hokken-Koelega, Anita C.; Johannsson, Gudmundur; Johnson, Keegan; Kemper, Alex; Kopchick, John J.; Malozowski, Saul; Miller, Jennifer; Mogul, Harriette R.; Muscatelli, Françoise; Nergårdh, Ricard; Nicholls, Robert D.; Radovick, Sally; Rosenthal, M. Sara; Sipilä, Ilkka; Tarride, Jean-Eric; Vogels, Annick; Waters, Michael J.

2013-01-01

Context: Recombinant human GH (rhGH) therapy in Prader-Willi syndrome (PWS) has been used by the medical community and advocated by parental support groups since its approval in the United States in 2000 and in Europe in 2001. Its use in PWS represents a unique therapeutic challenge that includes treating individuals with cognitive disability, varied therapeutic goals that are not focused exclusively on increased height, and concerns about potential life-threatening adverse events. Objective: The aim of the study was to formulate recommendations for the use of rhGH in children and adult patients with PWS. Evidence: We performed a systematic review of the clinical evidence in the pediatric population, including randomized controlled trials, comparative observational studies, and long-term studies (>3.5 y). Adult studies included randomized controlled trials of rhGH treatment for ≥ 6 months and uncontrolled trials. Safety data were obtained from case reports, clinical trials, and pharmaceutical registries. Methodology: Forty-three international experts and stakeholders followed clinical practice guideline development recommendations outlined by the AGREE Collaboration (www.agreetrust.org). Evidence was synthesized and graded using a comprehensive multicriteria methodology (EVIDEM) (http://bit.ly.PWGHIN). Conclusions: Following a multidisciplinary evaluation, preferably by experts, rhGH treatment should be considered for patients with genetically confirmed PWS in conjunction with dietary, environmental, and lifestyle interventions. Cognitive impairment should not be a barrier to treatment, and informed consent/assent should include benefit/risk information. Exclusion criteria should include severe obesity, uncontrolled diabetes mellitus, untreated severe obstructive sleep apnea, active cancer, or psychosis. Clinical outcome priorities should vary depending upon age and the presence of physical, mental, and social disability, and treatment should be continued for as long as demonstrated benefits outweigh the risks. PMID:23543664

A randomised controlled trial on hypnotherapy for irritable bowel syndrome: design and methodological challenges (the IMAGINE study).

PubMed

Flik, Carla E; van Rood, Yanda R; Laan, Wijnand; Smout, André Jpm; Weusten, Bas Lam; Whorwell, Peter J; de Wit, Niek J

2011-12-20

Irritable Bowel Syndrome (IBS) is a common gastro-intestinal disorder in primary and secondary care, characterised by abdominal pain, discomfort, altered bowel habits and/or symptoms of bloating and distension. In general the efficacy of drug therapies is poor. Hypnotherapy as well as Cognitive Behaviour Therapy and short Psychodynamic Therapy appear to be useful options for patients with refractory IBS in secondary care and are cost-effective, but the evidence is still limited. The IMAGINE-study is therefore designed to assess the overall benefit of hypnotherapy in IBS as well as comparing the efficacy of individual versus group hypnotherapy in treating this condition. The design is a randomised placebo-controlled trial. The study group consists of 354 primary care and secondary care patients (aged 18-65) with IBS (Rome-III criteria). Patients will be randomly allocated to either 6 sessions of individual hypnotherapy, 6 sessions of group hypnotherapy or 6 sessions of educational supportive therapy in a group (placebo), with a follow up of 9 months post treatment for all patients. Ten hospitals and four primary care psychological practices in different parts of The Netherlands will collaborate in this study. The primary efficacy parameter is the responder rate for adequate relief of IBS symptoms. Secondary efficacy parameters are changes in the IBS symptom severity, quality of life, cognitions, psychological complaints, self-efficacy as well as direct and indirect costs of the condition. Hypnotherapy is expected to be more effective than the control therapy, and group hypnotherapy is expected not to be inferior to individual hypnotherapy. If hypnotherapy is effective and if there is no difference in efficacy between individual and group hypnotherapy, this group form of treatment could be offered to more IBS patients, at lower costs. ISRCTN: ISRCTN22888906.

GrowthHormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome.

PubMed

Deal, Cheri L; Tony, Michèle; Höybye, Charlotte; Allen, David B; Tauber, Maïthé; Christiansen, Jens Sandahl

2013-06-01

Recombinant human GH (rhGH) therapy in Prader-Willi syndrome (PWS) has been used by the medical community and advocated by parental support groups since its approval in the United States in 2000 and in Europe in 2001. Its use in PWS represents a unique therapeutic challenge that includes treating individuals with cognitive disability, varied therapeutic goals that are not focused exclusively on increased height, and concerns about potential life-threatening adverse events. The aim of the study was to formulate recommendations for the use of rhGH in children and adult patients with PWS. We performed a systematic review of the clinical evidence in the pediatric population, including randomized controlled trials, comparative observational studies, and long-term studies (>3.5 y). Adult studies included randomized controlled trials of rhGH treatment for ≥ 6 months and uncontrolled trials. Safety data were obtained from case reports, clinical trials, and pharmaceutical registries. Forty-three international experts and stakeholders followed clinical practice guideline development recommendations outlined by the AGREE Collaboration (www.agreetrust.org). Evidence was synthesized and graded using a comprehensive multicriteria methodology (EVIDEM) (http://bit.ly.PWGHIN). Following a multidisciplinary evaluation, preferably by experts, rhGH treatment should be considered for patients with genetically confirmed PWS in conjunction with dietary, environmental, and lifestyle interventions. Cognitive impairment should not be a barrier to treatment, and informed consent/assent should include benefit/risk information. Exclusion criteria should include severe obesity, uncontrolled diabetes mellitus, untreated severe obstructive sleep apnea, active cancer, or psychosis. Clinical outcome priorities should vary depending upon age and the presence of physical, mental, and social disability, and treatment should be continued for as long as demonstrated benefits outweigh the risks.

The common characteristics and outcomes of multidisciplinary collaboration in primary health care: a systematic literature review

PubMed Central

Schepman, Sanneke; Hansen, Johan; de Putter, Iris D.; Batenburg, Ronald S.; de Bakker, Dinny H.

2015-01-01

Introduction Research on collaboration in primary care focuses on specific diseases or types of collaboration. We investigate the effects of such collaboration by bringing together the results of scientific studies. Theory and methods We conducted a systematic literature review of PubMed, CINAHL, Cochrane and EMBASE. The review was restricted to publications that test outcomes of multidisciplinary collaboration in primary care in high-income countries. A conceptual model is used to structure the analysis. Results Fifty-one studies comply with the selection criteria about collaboration in primary care. Approximately half of the 139 outcomes in these studies is non-significant. Studies among older patients, in particular, report non-significant outcomes (p < .05). By contrast, a higher proportion of significant results were found in studies that report on clinical outcomes. Conclusions and discussion This review shows a large diversity in the types of collaboration in primary care; and also thus a large proportion of outcomes do not seem to be positively affected by collaboration. Both the characteristics of the structure of the collaboration and the collaboration processes themselves affect the outcomes. More research is necessary to understand the mechanism behind the success of collaboration, especially on the exact nature of collaboration and the context in which collaboration takes place. PMID:26150765

Study of the Impact of Collaboration among Teachers in a Collaborative Authoring System

ERIC Educational Resources Information Center

Lafifi, Yacine; Touil, Ghassen

2010-01-01

Several researchers have studied the impact of collaboration between the learners on their cognitive levels, but few studies have been carried out on the impact of collaboration between the teachers. The aim of our research is to study the effects on the knowledge levels of learners of collaborative construction of learning objects created by the…

Production of False Memories in Collaborative Memory Tasks Using the DRM Paradigm

ERIC Educational Resources Information Center

Saraiva, Magda; Albuquerque, Pedro B.; Arantes, Joana

2017-01-01

Studies on collaborative memory have revealed an interesting phenomenon called collaborative inhibition (CI) (i.e., nominal groups recall more information than collaborative groups). However, the results of studies on false memories in collaborative memory tasks are controversial. This study aimed to understand the production of false memories in…

The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy

ClinicalTrials.gov

2018-01-10

Klinefelter Syndrome; Trisomy X; XYY Syndrome; XXXY and XXXXY Syndrome; Xxyy Syndrome; Xyyy Syndrome; Xxxx Syndrome; Xxxxx Syndrome; Xxxyy Syndrome; Xxyyy Syndrome; Xyyyy Syndrome; Male With Sex Chromosome Mosaicism

Cross-cultural and psychological issues in irritable bowel syndrome.

PubMed

Sahoo, Swapnajeet; Padhy, Susanta Kumar

2017-10-01

Irritable bowel syndrome (IBS) is one of the most common functional gastrointestinal disorders encountered by gastroenterologists worldwide. Of all the etiological factors that had been postulated to explain the pathophysiology of IBS, cultural and psychological factors are unique and difficult to understand. Culture plays an important role in coloring the presentation of IBS, and many a times, it has a significant role in several treatment aspects too. Psychological aspects like personality profiles, family relationships, societal myths, and abuse in any form are equally important in the management perspectives of IBS. In this brief review, we had tried to specifically focus on these aspects in IBS and have explained the evidences in favor of these factors. Knowledge about various cross-cultural aspects and psychological factors in patients with IBS is essential for taking an appropriate history and for undertaking a holistic approach for the management of the same. A collaborative team effort by psychiatrists and gastroenterologists could help in reducing the burden of this difficult to treat functional bowel disorder. © 2017 Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.

Graft versus host disease: what should the oculoplastic surgeon know?

PubMed

Tung, Cynthia I

2017-09-01

To provide a concise review of the oculoplastic manifestations of ocular graft versus host disease (GVHD), and to discuss their management. Ocular GVHD occurs as a common immune-mediated complication of hematopoietic stem cell transplantation that presents as a Stevens-Johnson-like syndrome in the acute phase or a Sjögren-like syndrome in the chronic phase. Cicatricial conjunctivitis may be underreported in ocular GVHD. The spectrum of oculoplastic manifestations includes GVHD of the skin, cicatricial entropion, nasolacrimal duct obstruction, and lacrimal gland dysfunction. Surgical treatment is indicated for patients with significant corneal complications from entropion. Surgical approach to repair of nasolacrimal duct obstruction is presented in this review, including modified approaches for treating patients at risk for keratitis sicca. Management of the ocular graft versus host patient may require a multidisciplinary approach involving collaboration from the oculoplastic surgeon, the corneal specialist, and the stem cell transplant physician. Oculoplastic manifestations of ocular GVHD typically present as cicatricial changes in the eyelid and lacrimal system. Careful oculoplastic and corneal evaluation are necessary when considering surgical management for the ocular GVHD patient.

Electroconvulsive therapy in the intensive care unit for the treatment of catatonia: a case series and review of the literature.

PubMed

Dessens, Femke M; van Paassen, Judith; van Westerloo, David J; van der Wee, Nic J; van Vliet, Irene M; van Noorden, Martijn S

2016-01-01

Catatonia is an underdiagnosed syndrome that may occur in severely ill patients. The malignant subtype, consisting of motor symptoms, autonomic instability and fever, is associated with high mortality rates, though exact current mortality rates are unknown. This subtype requires a fast detection and treatment with high doses of a benzodiazepine or electroconvulsive therapy (ECT), preferably in an intensive care unit (ICU) setting. Case series and qualitative literature review. This paper presents four patients admitted to the ICU of an academic hospital diagnosed with malignant catatonia. All patients received ECT after an ineffective trial of high-dose intravenous benzodiazepine treatment. The duration of ECT ranged from 6 to 23 treatments after which the catatonic features partially or fully remitted. In addition, we have reviewed the diagnostic challenges, neurobiology, possible causes, differential diagnosis and treatment options of catatonia, focusing on the treatment with ECT and the importance of detection and multidisciplinary collaboration. Malignant catatonia is an underdiagnosed, potentially life-threatening syndrome that requires fast recognition and prompt treatment, preferably in an ICU setting. Copyright © 2016 Elsevier Inc. All rights reserved.

[Anticholinergic syndrome caused by contaminated herbal tea; acting swiftly to identify the source].

PubMed

Oerlemans, C; de Vries, I; van Riel, A J H P

2017-01-01

Despite good manufacturing practice and quality control, consumer products can become contaminated. In some cases, this can result in severe and life-threatening intoxication with potentially fatal consequences. A 27-year-old man and a 28-year-old pregnant woman presented to the Emergency Department with severe anticholinergic syndrome after using a marshmallow root (Althaea officinalis) herbal remedy, mixed into hot chocolate drink, to reduce symptoms of common cold. After a short stay in Intensive Care, the symptoms diminished and the patients could be released from hospital. The herbs were found to be contaminated with atropine, most probably derived from deadly nightshade (Atropa belladonna). Analyses of the contaminated product indicated that the patients were exposed to 20-200 mg atropine, while a dose of 2 mg is already considered mildly toxic. Consultation of the Dutch National Poisons Information Center resulted in rapid detection of the contamination; close collaboration with the Netherlands Food and Consumer Product Safety Authority and the manufacturer of the product allowed rapid identification of the source of contamination and facilitated the prevention of an epidemic.

American Telemedicine Association: Telestroke Guidelines

PubMed Central

Berg, Jill; Chong, Brian W.; Gross, Hartmut; Nystrom, Karin; Adeoye, Opeolu; Schwamm, Lee; Wechsler, Lawrence; Whitchurch, Sallie

2017-01-01

Abstract The following telestroke guidelines were developed to assist practitioners in providing assessment, diagnosis, management, and/or remote consultative support to patients exhibiting symptoms and signs consistent with an acute stroke syndrome, using telemedicine communication technologies. Although telestroke practices may include the more broad utilization of telemedicine across the entire continuum of stroke care, with some even consulting on all neurologic emergencies, this document focuses on the acute phase of stroke, including both pre- and in-hospital encounters for cerebrovascular neurological emergencies. These guidelines describe a network of audiovisual communication and computer systems for delivery of telestroke clinical services and include operations, management, administration, and economic recommendations. These interactive encounters link patients with acute ischemic and hemorrhagic stroke syndromes with acute care facilities with remote and on-site healthcare practitioners providing access to expertise, enhancing clinical practice, and improving quality outcomes and metrics. These guidelines apply specifically to telestroke services and they do not prescribe or recommend overall clinical protocols for stroke patient care. Rather, the focus is on the unique aspects of delivering collaborative bedside and remote care through the telestroke model. PMID:28384077

Validation of the Auto-Inflammatory Diseases Activity Index (AIDAI) for hereditary recurrent fever syndromes

PubMed Central

Piram, Maryam; Koné-Paut, Isabelle; Lachmann, Helen J; Frenkel, Joost; Ozen, Seza; Kuemmerle-Deschner, Jasmin; Stojanov, Silvia; Simon, Anna; Finetti, Martina; Sormani, Maria Pia; Martini, Alberto; Gattorno, Marco; Ruperto, Nicolino

2014-01-01

Objectives To validate the Auto-Inflammatory Diseases Activity Index (AIDAI) in the four major hereditary recurrent fever syndromes (HRFs): familial Mediterranean fever (FMF), mevalonate kinase deficiency (MKD), tumour necrosis factor receptor-associated periodic syndrome (TRAPS) and cryopyrin-associated periodic syndromes (CAPS). Methods In 2010, an international collaboration established the content of a disease activity tool for HRFs. Patients completed a 1-month prospective diary with 12 yes/no items before a clinical appointment during which their physician assessed their disease activity by a questionnaire. Eight international experts in auto-inflammatory diseases evaluated the patient's disease activity by a blinded web evaluation and a nominal group technique consensus conference, with their consensus judgement considered the gold standard. Sensitivity/specificity/accuracy measures and the ability of the score to discriminate active from inactive patients via the best cut-off score were calculated by a receiver operating characteristic analysis. Results Consensus was achieved for 98/106 (92%) cases (39 FMF, 35 CAPS, 14 TRAPS and 10 MKD), with 26 patients declared as having inactive disease and 72 as having active disease. The median total AIDAI score was 14 (range=0–175). An AIDAI cut-off score ≥9 discriminated active from inactive patients, with sensitivity/specificity/accuracy of 89%/92%/90%, respectively, and an area under the curve of 98% (95% CI 96% to 100%). Conclusions The AIDAI score is a valid and simple tool for assessing disease activity in FMF/MKD/TRAPS/CAPS. This tool is easy to use in clinical practice and has the potential to be used as the standard efficacy measure in future clinical trials. PMID:24026675

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome

PubMed Central

Gross, Oliver; Kashtan, Clifford E.; Rheault, Michelle N.; Flinter, Frances; Savige, Judith; Miner, Jeffrey H.; Torra, Roser; Ars, Elisabet; Deltas, Constantinos; Savva, Isavella; Perin, Laura; Renieri, Alessandra; Ariani, Francesca; Mari, Francesca; Baigent, Colin; Judge, Parminder; Knebelman, Bertrand; Heidet, Laurence; Lagas, Sharon; Blatt, Dave; Ding, Jie; Zhang, Yanqin; Gale, Daniel P.; Prunotto, Marco; Xue, Yong; Schachter, Asher D.; Morton, Lori C.G.; Blem, Jacqui; Huang, Michael; Liu, Shiguang; Vallee, Sebastien; Renault, Daniel; Schifter, Julia; Skelding, Jules; Gear, Susie; Friede, Tim; Turner, A. Neil; Lennon, Rachel

2017-01-01

Abstract Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the COL4A3, COL4A4 or COL4A5 genes encoding the α3α4α5(IV) collagen heterotrimer. AS is rare, but it accounts for >1% of patients receiving renal replacement therapy. Angiotensin-converting enzyme inhibition slows, but does not stop, the progression to renal failure; therefore, there is an urgent requirement to expand and intensify research towards discovering new therapeutic targets and new therapies. The 2015 International Workshop on Alport Syndrome targeted unmet needs in basic science, genetics and diagnosis, clinical research and current clinical care. In three intensive days, more than 100 international experts including physicians, geneticists, researchers from academia and industry, and patient representatives from all over the world participated in panel discussions and breakout groups. This report summarizes the most important priority areas including (i) understanding the crucial role of podocyte protection and regeneration, (ii) targeting mutations by new molecular techniques for new animal models and potential gene therapy, (iii) creating optimal interaction between nephrologists and geneticists for early diagnosis, (iv) establishing standards for mutation screening and databases, (v) improving widespread accessibility to current standards of clinical care, (vi) improving collaboration with the pharmaceutical/biotech industry to investigate new therapies, (vii) research in hearing loss as a huge unmet need in Alport patients and (viii) the need to evaluate the risk and benefit of novel (including ‘repurposing’) therapies on an international basis. PMID:27190345

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.

PubMed

Gross, Oliver; Kashtan, Clifford E; Rheault, Michelle N; Flinter, Frances; Savige, Judith; Miner, Jeffrey H; Torra, Roser; Ars, Elisabet; Deltas, Constantinos; Savva, Isavella; Perin, Laura; Renieri, Alessandra; Ariani, Francesca; Mari, Francesca; Baigent, Colin; Judge, Parminder; Knebelman, Bertrand; Heidet, Laurence; Lagas, Sharon; Blatt, Dave; Ding, Jie; Zhang, Yanqin; Gale, Daniel P; Prunotto, Marco; Xue, Yong; Schachter, Asher D; Morton, Lori C G; Blem, Jacqui; Huang, Michael; Liu, Shiguang; Vallee, Sebastien; Renault, Daniel; Schifter, Julia; Skelding, Jules; Gear, Susie; Friede, Tim; Turner, A Neil; Lennon, Rachel

2017-06-01

Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the COL4A3, COL4A4 or COL4A5 genes encoding the α3α4α5(IV) collagen heterotrimer. AS is rare, but it accounts for >1% of patients receiving renal replacement therapy. Angiotensin-converting enzyme inhibition slows, but does not stop, the progression to renal failure; therefore, there is an urgent requirement to expand and intensify research towards discovering new therapeutic targets and new therapies. The 2015 International Workshop on Alport Syndrome targeted unmet needs in basic science, genetics and diagnosis, clinical research and current clinical care. In three intensive days, more than 100 international experts including physicians, geneticists, researchers from academia and industry, and patient representatives from all over the world participated in panel discussions and breakout groups. This report summarizes the most important priority areas including (i) understanding the crucial role of podocyte protection and regeneration, (ii) targeting mutations by new molecular techniques for new animal models and potential gene therapy, (iii) creating optimal interaction between nephrologists and geneticists for early diagnosis, (iv) establishing standards for mutation screening and databases, (v) improving widespread accessibility to current standards of clinical care, (vi) improving collaboration with the pharmaceutical/biotech industry to investigate new therapies, (vii) research in hearing loss as a huge unmet need in Alport patients and (viii) the need to evaluate the risk and benefit of novel (including 'repurposing') therapies on an international basis. © The Author 2016. Published by Oxford University Press on behalf of ERAEDTA.

Correlation Analysis between Traditional Chinese Medicine Syndromes and Gastrointestinal Bleeding after Percutaneous Coronary Intervention

PubMed Central

Huang, Chaolian; Wang, Mingming; Kong, Xiaolin; Liu, Guannan

2018-01-01

Objective To explore the characters of traditional Chinese medicine (TCM) syndromes after percutaneous coronary intervention (PCI) and to provide syndrome study theoretical evidence for TCM differentiation treatment after PCI through retrospective study. Methods Patients with coronary heart disease (CHD) who underwent PCI in Cardiovascular Intervention Center of Wangjing Hospital during Dec. 2012 to Dec. 2014 and met the inclusion criteria were enrolled. Retrospective study was then conducted based on patients' clinical document and angiography data to explore the distribution pattern of TCM syndromes. Results 801 patients were recruited in the study. TCM syndromes in descending order of their incidence were Qi deficiency and blood stasis syndrome, heart blood stasis syndrome, Qi and Yin deficiency syndrome, phlegm and blood stasis syndrome, Qi stagnation and blood stasis syndrome, Yang asthenia syndrome, heart and kidney yin deficiency syndrome to cold congeal, and blood stasis syndrome in a more to less order. Qi deficiency and blood stasis syndrome was in the most (occurring in 298 patients, 37.20%); Qi and Yin deficiency syndrome occurred in 163 patients (20.35%); heart blood stasis syndrome was shown in 126 patients (15.73%); phlegm and blood stasis syndrome was shown in 95 patients (11.86%). Conclusion Qi deficiency and blood stasis syndrome was closely associated with post-PCI bleeding, implying that this syndrome might serve as a powerful predictor of GI bleeding as well as a potential supplement to the current predicting and scoring system of bleeding such as CRUSADE.

Barriers to education in cardiac rehabilitation within an Iranian society: a qualitative descriptive study.

PubMed

Alavi, Mousa; Irajpour, Alireza; Giles, Tracey; Rabiei, Katayoun; Sarrafzadegan, Nizal

2013-06-01

Cardiac rehabilitation programmes that include patient education aim to maximise physical, psychological and social functioning, and enable people with acute coronary syndrome to lead fulfilling and productive lives. Despite strong evidence for the benefits of patient education, various barriers exist that need to be addressed to ensure the effective delivery of care. This study explores patients/family members and health professionals' perceptions and experiences of the barriers to cardiac rehabilitation education in an Iranian context. A thematic analysis of in-depth interviews was undertaken using a constant comparative approach. Participants (10 health professionals, 15 patients/family members) were recruited from educational-medical centers and hospitals in Iran. Credibility and trustworthiness were grounded on four aspects: factual value, applicability, consistency and neutrality. Five major barriers to cardiac rehabilitation were identified relating to human resources, service provision, available educational services, unfavourable attitudes and collaboration gaps. Two main challenges exist to the provision of effective patient education; inadequate human resources in the hospital wards, specifically in terms of trained health care professionals and service users specific health related views and behaviours. Barriers to comprehensive patient education and cardiac rehabilitation in Iran must be addressed and urgent consideration should be given to the introduction and evaluation of education programmes to prepare health/support system professionals as well as service users, and cardiac rehabilitation services that employ a collaborative and individualised approach. This in turn may reduce the burden of CVD and improve the overall health and quality of life for people in Isfahan Iran.

PATIENTS' PERCEPTION ON CLINICAL OUTCOME AND QUALITY OF LIFE AFTER A DIAGNOSIS OF CUSHING SYNDROME.

PubMed

Papoian, Vardan; Biller, Beverly M K; Webb, Susan M; Campbell, Karen K; Hodin, Richard A; Phitayakorn, Roy

2016-01-01

Excess cortisol production (Cushing syndrome, CS) is a chronic disease affecting many organ systems and impacting quality of life (QoL). This study analyzed factors associated with self-reported QoL, including aspects related to the diagnosis and treatment modalities of CS. In collaboration with the Cushing's Support and Research Foundation (CSRF), surveys using a validated QoL instrument were sent to CSRF members. Data were analyzed for associations between QoL and demographic, treatment, and disease factors. A total of 269 patients completed the survey. Respondents were 89.9% female, and the mean age was 48 years (SD 12, range 16-76). Respondents visited a median of 4 physicians (range 1-40) prior to the diagnosis of CS, with a median of 5 years (mean 7, SD 5, range 1-30) to obtain a diagnosis, showing a statistically significant negative correlation (P<.001). In one-quarter of cases, someone other than a physician suggested the diagnosis. Multiple regression analysis demonstrated that remission status, time to diagnosis, radiation therapy, and hypopituitarism were significant predictors of QoL. There was no association between QoL and patient's sex, age, replacement steroid use, having follow-up with an endocrinologist, or surgical approach. This is one of the largest QoL studies of CS patients and provides information for treatment and education goals. It is notable that early diagnosis and treatment was the major predictor of better QoL after achieving remission from disease, highlighting the need for awareness about the disorder. Patients in remission had better QoL, emphasizing the importance of disease control.

How Patients View Probiotics: Findings from a Multicenter Study of Patients with Inflammatory Bowel Disease and Irritable Bowel Syndrome

PubMed Central

Mercer, MaryBeth; Brinich, Margaret A.; Geller, Gail; Harrison, Krista; Highland, Janelle; James, Katherine; Marshall, Patricia; McCormick, Jennifer B.; Tilburt, Jon; Achkar, Jean-Paul; Farrell, Ruth M.; Sharp, Richard R.

2011-01-01

Background Patients with inflammatory bowel disease (IBD) and irritable bowel syndrome (IBS) have access to a growing number of probiotic products marketed to improve digestive health. It is unclear how patients make decisions about probiotics and what role they expect their gastroenterologists to play as they consider using probiotics. Understanding patients’ knowledge, attitudes and expectations of probiotics may help gastroenterologists engage patients in collaborative discussions about probiotics. Study Focus groups were conducted with patients with IBD and IBS at the Cleveland Clinic, Mayo Clinic and Johns Hopkins University. Inductive analytic methods were utilized to identify common themes and draw interpretations from focus group narratives. Results One hundred thirty-six patients participated in 22 focus groups between March and August 2009. Patients viewed probiotics as an appealing alternative to pharmaceutical drugs and understood probiotics as a more “natural,” low-risk therapeutic option. Many patients were hesitant to use them without consulting their gastroenterologists. Patients would weigh the risks and benefits of probiotics, their disease severity and satisfaction with current treatments when considering probiotic use. Conclusions Patients are interested in probiotics but have many unanswered questions about their use. Our findings suggest that patients with IBD and IBS will look to gastroenterologists and other clinicians as trustworthy advisors regarding the utility of probiotics as an alternative or supplement to pharmaceutical drugs. Gastroenterologists and other clinicians who care for patients with these diseases should be prepared to discuss the potential benefits and risks of probiotics and assist patients in making informed decisions about their use. PMID:21716123

Perception of collaborative learning in associate degree students in Hong Kong.

PubMed

Shek, Daniel T L; Shek, Moses M W

2013-01-01

Although collaborative learning has been widely researched in Western contexts, no study has been carried out to understand how associate degree students look at collaborative learning in Hong Kong. In this study, perceptions of and attitudes to collaborative learning among associate degree students were studied. A total of 44 associate degree students completed an online questionnaire including measures of perceived benefits and attitudes to collaborative learning, and social-emotional competence. Results showed that there were no significant differences between male and female students on perceived benefits of and attitudes towards collaborative learning. Social-emotional competence was related to perceived benefits of and attitudes to collaborative learning. Attitudes were also related to perceived benefits of collaborative learning. This paper is the first known study looking at the relationships among perceived benefits and attitudes to collaborative learning and social-emotional competence in Chinese associate degree students in different Chinese contexts.

Strategic Planning for Research in Pediatric Critical Care

PubMed Central

Tamburro, Robert F.; Jenkins, Tammara L.; Kochanek, Patrick M.

2016-01-01

Objective To summarize the scientific priorities and potential future research directions for pediatric critical care research discussed by a panel of experts at the inaugural Strategic Planning Conference of the Pediatric Trauma and Critical Illness Branch of the Eunice Kennedy Shriver National Institute of Child Health and Human Development. Data Sources Expert opinion expressed during the Strategic Planning Conference. Study Selection Not applicable Data Extraction Chaired by an experienced expert from the field, issues relevant to the conduct of pediatric critical care research were discussed and debated by the invited participants. Data Synthesis Common themes and suggested priorities were identified and coalesced. Conclusions Of the many pathophysiological conditions discussed, the multiple organ dysfunction syndrome emerged as a topic in need of more study that is most relevant to the field. Additionally, the experts offered that the inter-relationship and impact of critical illness on child development and family functioning are important research priorities. Consequently, long-term outcomes research was encouraged. The expert group also suggested that multidisciplinary conferences are needed to help identify key knowledge gaps to advance and direct research in the field. The Pediatric Critical Care and Trauma Scientist Development National K12 Program and the Collaborative Pediatric Critical Care Research Network were recognized as successful and important programs supported by the branch. The development of core data resources including biorepositories with robust phenotypic data using common data elements was also suggested to foster data sharing among investigators and to enhance disease diagnosis and discovery. Multicenter clinical trials and innovative study designs to address understudied and poorly understood conditions were considered important for field advancement. Finally, the growth of the pediatric critical care research workforce was offered as a priority that could be spawned in many ways including by expanded transdisciplinary and multiprofessional collaboration and diversity representation. PMID:27679964

Collaboration Expertise in Medicine - No Evidence for Cross-Domain Application from a Memory Retrieval Study.

PubMed

Kiesewetter, Jan; Fischer, Frank; Fischer, Martin R

2016-01-01

Is there evidence for expertise on collaboration and, if so, is there evidence for cross-domain application? Recall of stimuli was used to measure so-called internal collaboration scripts of novices and experts in two studies. Internal collaboration scripts refer to an individual's knowledge about how to interact with others in a social situation. METHOD— Ten collaboration experts and ten novices of the content domain social science were presented with four pictures of people involved in collaborative activities. The recall texts were coded, distinguishing between superficial and collaboration script information. RESULTS— Experts recalled significantly more collaboration script information (M = 25.20; SD = 5.88) than did novices (M = 13.80; SD = 4.47). Differences in superficial information were not found. Study 2 tested whether the differences found in Study 1 could be replicated. Furthermore, the cross-domain application of internal collaboration scripts was explored. METHOD— Twenty collaboration experts and 20 novices of the content domain medicine were presented with four pictures and four videos of their content domain and a video and picture of another content domain. All stimuli showed collaborative activities typical for the respective content domains. RESULTS— As in Study 1, experts recalled significantly more collaboration script information of their content domain (M = 71.65; SD = 33.23) than did novices (M = 54.25; SD = 15.01). For the novices, no differences were found for the superficial information nor for the retrieval of collaboration script information recalled after the other content domain stimuli. There is evidence for expertise on collaboration in memory tasks. The results show that experts hold substantially more collaboration script information than did novices. Furthermore, the differences between collaboration novices and collaboration experts occurred only in their own content domain, indicating that internal collaboration scripts are not easily stored and retrieved in memory tasks other than in the own content domain.

Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder.

PubMed

Abdulkadir, Mohamed; Tischfield, Jay A; King, Robert A; Fernandez, Thomas V; Brown, Lawrence W; Cheon, Keun-Ah; Coffey, Barbara J; de Bruijn, Sebastian F T M; Elzerman, Lonneke; Garcia-Delgar, Blanca; Gilbert, Donald L; Grice, Dorothy E; Hagstrøm, Julie; Hedderly, Tammy; Heyman, Isobel; Hong, Hyun Ju; Huyser, Chaim; Ibanez-Gomez, Laura; Kim, Young Key; Kim, Young-Shin; Koh, Yun-Joo; Kook, Sodahm; Kuperman, Samuel; Lamerz, Andreas; Leventhal, Bennett; Ludolph, Andrea G; Madruga-Garrido, Marcos; Maras, Athanasios; Messchendorp, Marieke D; Mir, Pablo; Morer, Astrid; Münchau, Alexander; Murphy, Tara L; Openneer, Thaïra J C; Plessen, Kerstin J; Rath, Judith J G; Roessner, Veit; Fründt, Odette; Shin, Eun-Young; Sival, Deborah A; Song, Dong-Ho; Song, Jungeun; Stolte, Anne-Marie; Tübing, Jennifer; van den Ban, Els; Visscher, Frank; Wanderer, Sina; Woods, Martin; Zinner, Samuel H; State, Matthew W; Heiman, Gary A; Hoekstra, Pieter J; Dietrich, Andrea

2016-11-01

Pre- and perinatal complications have been implicated in the onset and clinical expression of Tourette syndrome albeit with considerable inconsistencies across studies. Also, little is known about their role in co-occurring obsessive-compulsive disorder (OCD) and attention-deficit/hyperactivity disorder (ADHD) in individuals with a tic disorder. Therefore, we aimed to investigate the role of pre- and perinatal complications in relation to the presence and symptom severity of chronic tic disorder and co-occurring OCD and ADHD using data of 1113 participants from the Tourette International Collaborative Genetics study. This study included 586 participants with a chronic tic disorder and 527 unaffected family controls. We controlled for age and sex differences by creating propensity score matched subsamples for both case-control and within-case analyses. We found that premature birth (OR = 1.72) and morning sickness requiring medical attention (OR = 2.57) were associated with the presence of a chronic tic disorder. Also, the total number of pre- and perinatal complications was higher in those with a tic disorder (OR = 1.07). Furthermore, neonatal complications were related to the presence (OR = 1.46) and severity (b = 2.27) of co-occurring OCD and also to ADHD severity (b = 1.09). Delivery complications were only related to co-occurring OCD (OR = 1.49). We conclude that early exposure to adverse situations during pregnancy is related to the presence of chronic tic disorders. Exposure at a later stage, at birth or during the first weeks of life, appears to be associated with co-occurring OCD and ADHD. Copyright © 2016 Elsevier Ltd. All rights reserved.

Guillain-Barré Syndrome Associated With Zika Virus Infection in Martinique in 2016: A Prospective Study.

PubMed

Rozé, Benoît; Najioullah, Fatiha; Fergé, Jean-Louis; Dorléans, Frédérique; Apetse, Kossivi; Barnay, Jose-Luis; Daudens-Vaysse, Elise; Brouste, Yannick; Césaire, Raymond; Fagour, Laurence; Valentino, Ruddy; Ledrans, Martine; Mehdaoui, Hossein; Abel, Sylvie; Leparc-Goffart, Isabelle; Signate, Aissatou; Cabié, André

2017-10-16

Guillain-Barré syndrome (GBS) has been reported to be associated with Zika virus (ZIKV) infection in case reports and retrospective studies, mostly on the basis of serological tests, with the problematic cross-reacting antibodies of the Flavivirus genus. Some GBS cases do not exhibit a high level of diagnostic certainty. This prospective study aimed to describe the clinical profiles and the frequency of GBS associated with ZIKV during the ZIKV outbreak in Martinique in 2016. We recorded prospective data from GBS meeting levels 1 or 2 of diagnostic certainty for the Brighton Collaboration, with proof of recent ZIKV infection and negative screening for etiologies of GBS. Of the sample of 34 patients with suspected GBS during the outbreak, 30 had a proven presence of GBS, and 23 had a recent ZIKV infection. The estimated GBS incidence rate ratio (2016 vs 2006-2015) was 4.52 (95% confidence interval, 2.80-7.64; P = .0001). Recent ZIKV infection was confirmed by urine reverse-transcription polymerase chain reaction (RT-PCR) analysis in 17 cases and by serology in 6 cases. Patients, 65% of whom were male, had a median age of 61 years (interquartile range, 56-71 years) and experienced severe GBS. Electrophysiological tests were consistent with the primary demyelinating form of the disease. ZIKV infection is usually benign, when symptomatic, but in countries at risk of ZIKV epidemics, adequate intensive care bed capacity is required for management of severe GBS cases. Arbovirus RNA detection by RT-PCR should be part of the management of GBS cases. © The Author 2017. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail: journals.permissions@oup.com.

Disability in Adolescents and Adults Diagnosed With Hypermobility-Related Disorders: A Meta-Analysis.

PubMed

Scheper, Mark C; Juul-Kristensen, Birgit; Rombaut, Lies; Rameckers, Eugene A; Verbunt, Jeanine; Engelbert, Raoul H

2016-12-01

To (1) establish the association of the most common reported symptoms on disability; and (2) study the effectiveness of treatment on disability in patients with Ehlers-Danlos syndrome-hypermobility type (EDS-HT)/hypermobility syndrome (HMS). An electronic search (Medical Subject Headings and free-text terms) was conducted in bibliographic databases CENTRAL/MEDLINE. Comparative, cross-sectional, longitudinal cohort studies and (randomized) controlled trials including patients with HMS/EDS-HT aged ≥17 years were considered for inclusion. A class of symptoms was included when 5 publications were available. In regards to treatment (physical, cognitive interventions), only (randomized) controlled trials were considered. Surgical and medicinal interventions were excluded. Bias was assessed according to the methodological scoring tools of the Cochrane collaboration. Z-score transformations were applied to classify the extent of disability in comparison with healthy controls and to ensure comparability between studies. Initially, the electronic search yielded 714 publications, and 21 articles remained for analysis after selection. The following symptoms were included for meta-analysis: pain (n=12), fatigue (n=6), and psychological distress (n=7). Pain (r=.64, P=.021), fatigue (r=.91, P=.011), and psychological distress (r=.86, P=.018) had a significant impact on disability. Regarding treatment, a significant pain reduction was achieved by a variety of physical and cognitive approaches. Treatment effectiveness on disability was not established. Disability can affect patients with HMS/EDS-HT significantly and is highly correlated with both physical and psychological factors. Although evidence is available that physical and psychological treatment modalities can induce significant pain reduction, the evidence regarding disability reduction is lacking. Copyright © 2016 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

Phase II Investigator-Initiated Study of Brentuximab Vedotin in Mycosis Fungoides and Sézary Syndrome With Variable CD30 Expression Level: A Multi-Institution Collaborative Project

PubMed Central

Kim, Youn H.; Tavallaee, Mahkam; Sundram, Uma; Salva, Katrin A.; Wood, Gary S.; Li, Shufeng; Rozati, Sima; Nagpal, Seema; Krathen, Michael; Reddy, Sunil; Hoppe, Richard T.; Nguyen-Lin, Annie; Weng, Wen-Kai; Armstrong, Randall; Pulitzer, Melissa; Advani, Ranjana H.; Horwitz, Steven M.

2015-01-01

Purpose In contrast to Hodgkin lymphoma and systemic anaplastic large-cell lymphoma, CD30 expression of malignant lymphocytes in mycosis fungoides (MF) and Sézary syndrome (SS) is quite variable. Clinical activity and safety of brentuximab vedotin, a CD30 targeting antibody-drug conjugate, was evaluated in MF and SS. Tissue and blood biomarkers of clinical response were explored. Patients and Methods In this phase II study, patients with MF or SS with negligible to 100% CD30 expression levels were treated with brentuximab vedotin (1.8 mg/kg) every 3 weeks for a maximum of sixteen doses. The primary end point was overall global response rate. Secondary end points included correlation of tissue CD30 expression level with clinical response, time to response, duration of response, progression-free and event-free survivals, and safety. Results Of the 32 patients enrolled and treated, 30 patients had available efficacy evaluations. Objective global response was observed in 21 (70%) of 30 patients (90% CI, 53% to 83%). CD30 expression assessed by immunohistochemistry was highly variable, with a median CD30max of 13% (range, 0% to 100%). Those with <5% CD30 expression had a lower likelihood of global response than did those with 5% or greater CD30 expression (P < .005). CD163 positive tumor-associated macrophages, many of which coexpress CD30, were abundant in tissue. Peripheral neuropathy was the most common adverse event. Conclusion Brentuximab vedotin demonstrated significant clinical activity in treatment-refractory or advanced MF or SS with a wide range of CD30 expression levels. Additional biomarker studies may help optimize rational design of combination therapies with brentuximab vedotin. PMID:26195720

Medial Tibial Stress Syndrome: Evidence-Based Prevention

PubMed Central

Craig, Debbie I

2008-01-01

Reference: Thacker SB, Gilchrist J, Stroup DF, Kimsey CD. The prevention of shin splints in sports: a systematic review of literature. Med Sci Sports Exerc. 2002;34(1):32–40. Clinical Question: Among physically active individuals, which medial tibial stress syndrome (MTSS) prevention methods are most effective to decrease injury rates? Data Sources: Studies were identified by searching MEDLINE (1966–2000), Current Contents (1996–2000), Biomedical Collection (1993–1999), and Dissertation Abstracts. Reference lists of identified studies were searched manually until no further studies were identified. Experts in the field were contacted, including first authors of randomized controlled trials addressing prevention of MTSS. The Cochrane Collaboration (early stage of Cochrane Database of Systematic Reviews) was contacted. Study Selection: Inclusion criteria included randomized controlled trials or clinical trials comparing different MTSS prevention methods with control groups. Excluded were studies that did not provide primary research data or that addressed treatment and rehabilitation rather than prevention of incident MTSS. Data Extraction: A total of 199 citations were identified. Of these, 4 studies compared prevention methods for MTSS. Three reviewers independently scored the 4 studies. Reviewers were blinded to the authors' names and affiliations but not the results. Each study was evaluated independently for methodologic quality using a 100-point checklist. Final scores were averages of the 3 reviewers' scores. Main Results: Prevention methods studied were shock-absorbent insoles, foam heel pads, Achilles tendon stretching, footwear, and graduated running programs. No statistically significant results were noted for any of the prevention methods. Median quality scores ranged from 29 to 47, revealing flaws in design, control for bias, and statistical methods. Conclusions: No current evidence supports any single prevention method for MTSS. The most promising outcomes support the use of shock-absorbing insoles. Well-designed and controlled trials are critically needed to decrease the incidence of this common injury. PMID:18523568

Exploring How Collaborative Dialogues Facilitate Synchronous Collaborative Writing

ERIC Educational Resources Information Center

Yeh, Hui-Chin

2014-01-01

Collaborative writing (CW) research has gained prevalence in recent years. However, the ways in which students interact socially to produce written texts through synchronous collaborative writing (SCW) is rarely studied. This study aims to investigate the effects of SCW on students' writing products and how collaborative dialogues facilitate SCW.…

A Grounded Theory of Collaborative Synchronizing in Relation to Challenging Students

ERIC Educational Resources Information Center

Thornberg, Robert

2012-01-01

The aim of this study was to investigate multiprofessional collaboration as well as collaboration between professionals and challenging students and their parents in which the focus for these collaborations was on handling the challenging students' academic and social behavior. A grounded theory study of collaboration between a prereferral…

Sensory nerves are frequently involved in the spectrum of fisher syndrome.

PubMed

Shahrizaila, Nortina; Goh, Khean J; Kokubun, Norito; Tan, Ai H; Tan, Cheng Y; Yuki, Nobuhiro

2014-04-01

Differing patterns of neurophysiological abnormalities have been reported in patients with Fisher syndrome. Fisher syndrome is rare, and few series have incorporated prospective serial studies to define the natural history of nerve conduction studies in Guillain-Barré syndrome. In an ongoing prospective study of Guillain-Barré syndrome patients, patients who presented with Fisher syndrome and its spectrum of illness were assessed through serial neurological examinations, nerve conduction studies, and serological testing of IgG against gangliosides and ganglioside complexes. Of the 36 Guillain-Barré syndrome patients identified within 2 years, 17 had features of Fisher syndrome. Serial nerve conduction studies detected significant abnormalities in sensory nerve action potential amplitude in 94% of patients associated with 2 patterns of recovery-non-demyelinating reversible distal conduction failure and axonal regeneration. Similar changes were seen in motor nerves of 5 patients. Patients with the Fisher syndrome spectrum of illness have significant sensory involvement, which may only be evident with serial neurophysiological studies. Copyright © 2013 Wiley Periodicals, Inc.

Application of a Novel Collaboration Engineering Method for Learning Design: A Case Study

ERIC Educational Resources Information Center

Cheng, Xusen; Li, Yuanyuan; Sun, Jianshan; Huang, Jianqing

2016-01-01

Collaborative case studies and computer-supported collaborative learning (CSCL) play an important role in the modern education environment. A number of researchers have given significant attention to learning design in order to improve the satisfaction of collaborative learning. Although collaboration engineering (CE) is a mature method widely…

Collaborative remembering revisited: Study context access modulates collaborative inhibition and later benefits for individual memory.

PubMed

Abel, Magdalena; Bäuml, Karl-Heinz T

2017-11-01

Collaborating groups typically show reduced recall relative to nominal groups, i.e., to the cumulated non-redundant recall of the same number of people remembering in isolation-a finding termed collaborative inhibition. Motivated by the results of several previous studies, this study examined in two experiments whether access to study context at test influences the effects of collaboration. In both experiments, subjects collaborated in triads or recalled previously studied material in isolation. Experiment 1 applied short versus prolonged retention intervals to vary access to study context at test, whereas Experiment 2 used the list-method directed forgetting task and applied remember versus forget instructions to modulate context access. In both experiments, collaborative inhibition was present when access to study context at test was intact (i.e., after the short delay and the remember instruction) but was eliminated when the access was impaired (i.e., after the prolonged delay and the forget instruction). Also, post-collaborative gains for individual recall were greater when context access was impaired and collaborative inhibition was eliminated. The findings demonstrate a critical role of access to study context at test for collaborative inhibition, indicating that impaired context access may reflect a general boundary condition for the recall impairment. The possible role of context reactivation processes for beneficial effects of social recall is discussed.

Outbreak of E. coli O157:H7 associated with lettuce served at fast food chains in the Maritimes and Ontario, Canada, Dec 2012

PubMed Central

Tataryn, J; Morton, V; Cutler, J; McDonald, L; Whitfield, Y; Billard, B; Gad, RR; Hexemer, A

2014-01-01

Background Identification and control of multi-jurisdictional foodborne illness outbreaks can be complex because of their multidisciplinary nature and the number of investigative partners involved. Objective To describe the multi-jurisdictional outbreak response to an E. coli O157:H7 outbreak in Canada that highlights the importance of early notification and collaboration and the value of centralized interviewing. Methods Investigators from local, provincial and federal jurisdictions, using a national outbreak response protocol to clarify roles and responsibilities and facilitate collaboration, conducted a rapid investigation that included centralized re-interview of cases, descriptive methods, binomial probability, and traceback findings to identify the source of the outbreak. Results There were 31 laboratory confirmed cases identified in New Brunswick, Nova Scotia, and Ontario. Thirteen cases (42%) were hospitalized and one case (3%) developed hemolytic uremic syndrome; there were no deaths. Due to early notification a coordinated investigation was initiated before laboratory subtyping was available. Re-interview of cases identified 10 cases who had not initially reported exposure to the source of the outbreak. Less than one week after the Outbreak Investigation Coordinating Committee was formed, consumption of shredded lettuce from a fast food chain was identified as the likely source of the illnesses and the implicated importer/processor initiated a precautionary recall the same day. Conclusion This outbreak investigation highlights the importance of early notification, prompt re-interviewing and collaboration to rapidly identify the source of an outbreak. PMID:29769900

WHO Collaborating Centre for Acquired Immunodeficiency Syndrome for the Eastern Mediterranean Regional Office, Faculty of Medicine, Kuwait University, Kuwait.

PubMed

Altawalah, Haya; Al-Nakib, Widad

2014-01-01

In the early 1980s, the World Health Organization (WHO) designated the Virology Unit of the Faculty of Medicine, Health Sciences Centre, Kuwait University, Kuwait, a collaborating centre for AIDS for the Eastern Mediterranean Regional Office (EMRO), recognizing it to be in compliance with WHO guidelines. In this centre, research integral to the efforts of WHO to combat AIDS is conducted. In addition to annual workshops and symposia, the centre is constantly updating and renewing its facilities and capabilities in keeping with current and latest advances in virology. As an example of the activities of the centre, the HIV-1 RNA viral load in plasma samples of HIV-1 patients is determined by real-time PCR using the AmpliPrep TaqMan HIV-1 test v2.0. HIV-1 drug resistance is determined by sequencing the reverse transcriptase and protease regions on the HIV-1 pol gene, using the TRUGENE HIV-1 Genotyping Assay on the OpenGene® DNA Sequencing System. HIV-1 subtypes are determined by sequencing the reverse transcriptase and protease regions on the HIV-1 pol gene using the genotyping assays described above. A fundamental program of Kuwait's WHO AIDS collaboration centre is the national project on the surveillance of drug resistance in human deficiency virus in Kuwait, which illustrates how the centre and its activities in Kuwait can serve the EMRO region of WHO. © 2014 S. Karger AG, Basel.

Syndromes of the global water crisis - exploring the emergent dynamics through socio-hydrological modeling

NASA Astrophysics Data System (ADS)

Kuil, Linda; Levy, Morgan; Pavao-Zuckerman, Mitch; Penny, Gopal; Scott, Christopher; Srinivasan, Veena; Thompson, Sally; Troy, Tara

2014-05-01

There is a great variety of human water systems at the global scale due to the types and timing of water supply/availability, and the high diversity in water use, management, and abstraction methods. Importantly, this is largely driven by differences in welfare, social values, institutional frameworks, and cultural traditions of communities. The observed trend of a growing world population in combination with changing habits that generally increase our water consumption per capita implies that an increasing number of communities will face water scarcity. Over the years much research has been done in order to increase our understanding of human water systems and their associated water problems, using both top-down and bottom-up approaches. Despite these efforts, the challenge has remained to generalize findings beyond the areas of interests and to establish a common framework in order to compare and learn from different cases as a basis for finding solutions. In a recent analysis of multiple interdisciplinary subnational water resources case studies, it was shown that a suite of distinct resources utilization patterns leading to a water crisis can be identified, namely: 1) groundwater depletion, 2) ecological destruction, 3) drought-driven conflicts, 4) unmet subsistence needs, 5) resource capture by elite and 6) water reallocation to nature (Srinivasan et al., 2012). The effects of these syndromes on long-lasting human wellbeing can be grouped in the following outcomes: unsustainability, vulnerability, chronic scarcity and adaptation. The aim of this group collaboration is to build on this work through the development of a socio-hydrological model that is capable of reproducing the above syndromes and outcomes, ultimately giving insight in the different pathways leading to the syndromes. The resulting model will be distinct compared to existing model frameworks for two reasons. First of all, feedback loops between the hydrological, the environmental and the human agency components of the model are central to the model structure, thereby accounting for the co-evolutionary nature of human-water systems. Second, the model is designed to be general and integrative aimed at the simulation of emergent qualitative dynamics of the human-water system. The explicit inclusion of feedbacks and the aim of the model to capture the general dynamics as opposed to case-specific trajectories will allow us to deepen our fundamental understanding of the causal pathways leading to water crises across multiple locations. All authors contributed equally to this work. Srinivasan, V., Lambin, E.F., Gorelick, S.M., Thompson, B.H., Rozelle, S., 2012. The nature and causes of the global water crisis: Syndromes from a meta-analysis of coupled human-water studies. Water Resources Research 48(10), doi:10.1029/2011WR011087

Towards a measurement of internalization of collaboration scripts in the medical context - results of a pilot study.

PubMed

Kiesewetter, Jan; Gluza, Martin; Holzer, Matthias; Saravo, Barbara; Hammitzsch, Laura; Fischer, Martin R

2015-01-01

Collaboration as a key qualification in medical education and everyday routine in clinical care can substantially contribute to improving patient safety. Internal collaboration scripts are conceptualized as organized - yet adaptive - knowledge that can be used in specific situations in professional everyday life. This study examines the level of internalization of collaboration scripts in medicine. Internalization is understood as fast retrieval of script information. The goals of the current study were the assessment of collaborative information, which is part of collaboration scripts, and the development of a methodology for measuring the level of internalization of collaboration scripts in medicine. For the contrastive comparison of internal collaboration scripts, 20 collaborative novices (medical students in their final year) and 20 collaborative experts (physicians with specialist degrees in internal medicine or anesthesiology) were included in the study. Eight typical medical collaborative situations as shown on a photo or video were presented to the participants for five seconds each. Afterwards, the participants were asked to describe what they saw on the photo or video. Based on the answers, the amount of information belonging to a collaboration script (script-information) was determined and the time each participant needed for answering was measured. In order to measure the level of internalization, script-information per recall time was calculated. As expected, collaborative experts stated significantly more script-information than collaborative novices. As well, collaborative experts showed a significantly higher level of internalization. Based on the findings of this research, we conclude that our instrument can discriminate between collaboration novices and experts. It therefore can be used to analyze measures to foster subject-specific competency in medical education.

[On establishing comparative reference system for syndrome classification study from the thinking characteristics of syndrome differentiation dependent therapy].

PubMed

Liu, Ping; Hu, Yi-yang; Ni, Li-qiang

2006-05-01

To create a comparative referential system for syndrome classification study by viewing from the thinking characteristics of TCM on syndrome differentiation dependent therapy (SDDT), through analyzing the thinking process of SDDT, and the basic features of disease, syndrome and prescription, combining the basic principles of modern evidence-based medicine and feasibility of establishing integrative disease-syndrome animal model. The practice of creating a comparative referential system based on clinical efficacy of prescription was discussed around syndrome pathogenesis and its relationship with disease and prescription, which was one of the important scientific problems in TCM syndrome study. The authors hold that, it may be one of the available approaches for the present study on integration of disease with syndrome by way of insisting on the thinking pathway of stressing the characteristics of TCM and intermerging with modern scientific design; on taking the efficacy of prescription as the comparative reference system to accumulate and improve unceasingly according to the TCM method of syndrome diagnosis inferred from effect of prescription with reverse thought (i.e., to differentiate syndrome from the effect of prescription), and thus build up the syndrome diagnostic standard on the solid clinical and scientific base.

A study on scientific collaboration and co-authorship patterns in library and information science studies in Iran between 2005 and 2009

PubMed Central

Siamaki, Saba; Geraei, Ehsan; Zare- Farashbandi, Firoozeh

2014-01-01

Background: Scientific collaboration is among the most important subjects in scientometrics, and many studies have investigated this concept to this day. The goal of the current study is investigation of scientific collaboration and co-authorship patterns of researchers in the field of library and information science in Iran between years 2005 and 2009. Materials and Methods: The current study uses scientometrics method. The statistical population consists of 942 documents published in Iranian library and information science journals between years 2005 and 2009. Collaboration coefficient, collaboration index (CI), and degree of collaboration (DC) were used for data analysis. Findings: The findings showed that among 942 investigated documents, 506 documents (53.70%) was created by one individual researcher and 436 documents (46.30%) were the result of collaboration between two or more researchers. Also, the highest rank of different authorship patterns belonged to National Journal of Librarianship and Information Organization (code H). Conclusion: The average collaboration coefficient for the library and information science researchers in the investigated time frame was 0.23. The closer this coefficient is to 1, the higher is the level of collaboration between authors, and a coefficient near zero shows a tendency to prefer individual articles. The highest collaboration index with an average of 1.92 authors per paper was seen in year 1388. The five year collaboration index in library and information science in Iran was 1.58, and the average degree of collaboration between researchers in the investigated papers was 0.46, which shows that library and information science researchers have a tendency for co-authorship. However, the co-authorship had increased in recent years reaching its highest number in year 1388. The researchers’ collaboration coefficient also shows relative increase between years 1384 and 1388. National Journal of Librarianship and Information Organization has the highest rank among all the investigated journals based on collaboration coefficient, collaboration index (CI), and degree of collaboration (DC). PMID:25250365

A study on scientific collaboration and co-authorship patterns in library and information science studies in Iran between 2005 and 2009.

PubMed

Siamaki, Saba; Geraei, Ehsan; Zare-Farashbandi, Firoozeh

2014-01-01

Scientific collaboration is among the most important subjects in scientometrics, and many studies have investigated this concept to this day. The goal of the current study is investigation of scientific collaboration and co-authorship patterns of researchers in the field of library and information science in Iran between years 2005 and 2009. The current study uses scientometrics method. The statistical population consists of 942 documents published in Iranian library and information science journals between years 2005 and 2009. Collaboration coefficient, collaboration index (CI), and degree of collaboration (DC) were used for data analysis. The findings showed that among 942 investigated documents, 506 documents (53.70%) was created by one individual researcher and 436 documents (46.30%) were the result of collaboration between two or more researchers. Also, the highest rank of different authorship patterns belonged to National Journal of Librarianship and Information Organization (code H). The average collaboration coefficient for the library and information science researchers in the investigated time frame was 0.23. The closer this coefficient is to 1, the higher is the level of collaboration between authors, and a coefficient near zero shows a tendency to prefer individual articles. The highest collaboration index with an average of 1.92 authors per paper was seen in year 1388. The five year collaboration index in library and information science in Iran was 1.58, and the average degree of collaboration between researchers in the investigated papers was 0.46, which shows that library and information science researchers have a tendency for co-authorship. However, the co-authorship had increased in recent years reaching its highest number in year 1388. The researchers' collaboration coefficient also shows relative increase between years 1384 and 1388. National Journal of Librarianship and Information Organization has the highest rank among all the investigated journals based on collaboration coefficient, collaboration index (CI), and degree of collaboration (DC).

Midwives' and health visitors' collaborative relationships: A systematic review of qualitative and quantitative studies.

PubMed

Aquino, Maria Raisa Jessica Ryc V; Olander, Ellinor K; Needle, Justin J; Bryar, Rosamund M

2016-10-01

Interprofessional collaboration between midwives and health visitors working in maternal and child health services is widely encouraged. This systematic review aimed to identify existing and potential areas for collaboration between midwives and health visitors; explore the methods through which collaboration is and can be achieved; assess the effectiveness of this relationship between these groups, and ascertain whether the identified examples of collaboration are in line with clinical guidelines and policy. A narrative synthesis of qualitative and quantitative studies. Fourteen electronic databases, research mailing lists, recommendations from key authors and reference lists and citations of included papers. Papers were included if they explored one or a combination of: the areas of practice in which midwives and health visitors worked collaboratively; the methods that midwives and health visitors employed when communicating and collaborating with each other; the effectiveness of collaboration between midwives and health visitors; and whether collaborative practice between midwives and health visitors meet clinical guidelines. Papers were assessed for study quality. Eighteen papers (sixteen studies) met the inclusion criteria. The studies found that midwives and health visitors reported valuing interprofessional collaboration, however this was rare in practice. Findings show that collaboration could be useful across the service continuum, from antenatal care, transition of care/handover, to postnatal care. Evidence for the effectiveness of collaboration between these two groups was equivocal and based on self-reported data. In relation, multiple enablers and barriers to collaboration were identified. Communication was reportedly key to interprofessional collaboration. Interprofessional collaboration was valuable according to both midwives and health visitors, however, this was made challenging by several barriers such as poor communication, limited resources, and poor understanding of each other's role. Structural barriers such as physical distance also featured as a challenge to interprofessional collaboration. Although the findings are limited by variable methodological quality, these were consistent across time, geographical locations, and health settings, indicating transferability and reliability. Crown Copyright © 2016. Published by Elsevier Ltd. All rights reserved.

[Diabetic foot syndrome from the perspective of internist educated in podiatry].

PubMed

Jirkovská, Alexandra

2016-01-01

Podiatry is the science dealing with the diagnostics and treatment of the foot and ankle and associated tissues and structures by all appropriate methods and also with the local manifestation of the overall processes in this area. Diabetic foot disease is defined as infection, ulceration or destruction of tissues of the foot associated with neuropathy and/or peripheral artery disease in the lower extremity of people with diabetes according to the latest edition of the International Consensus. Successful treatment and prevention of diabetic foot syndrome depends on a holistic approach, in which it is seen as part of the multiple organ involvement. Teamwork of series of experts is therefore necessary. Internist with diabetes and podiatric education plays a key role in this team in particular, when control diabetes and in the prevention and treatment of co-morbidities, in the diagnosis of malnutrition and in the nutritional therapy and in the early diagnosis and effective treatment of infections. Last but not least, internist in collaboration with other professionals works when treatment of lower limb ischemia, suitable offloading of the ulcer and topical therapy and in the prevention of ulcers. Recurrent ulcerations are the major problem in podiatry and it can occur in up to 40% of patients in the first year after healing. Follow-up of patients with diabetic foot syndrome by experienced internist can help reduce the serious consequences, including amputation and cardiovascular mortality.Key words: diabetic foot - internal medicine - podiatry.

Proposed consensus definitions for new-onset refractory status epilepticus (NORSE), febrile infection-related epilepsy syndrome (FIRES), and related conditions.

PubMed

Hirsch, Lawrence J; Gaspard, Nicolas; van Baalen, Andreas; Nabbout, Rima; Demeret, Sophie; Loddenkemper, Tobias; Navarro, Vincent; Specchio, Nicola; Lagae, Lieven; Rossetti, Andrea O; Hocker, Sara; Gofton, Teneille E; Abend, Nicholas S; Gilmore, Emily J; Hahn, Cecil; Khosravani, Houman; Rosenow, Felix; Trinka, Eugen

2018-04-01

We convened an international group of experts to standardize definitions of New-Onset Refractory Status Epilepticus (NORSE), Febrile Infection-Related Epilepsy Syndrome (FIRES), and related conditions. This was done to enable improved communication for investigators, physicians, families, patients, and other caregivers. Consensus definitions were achieved via email messages, phone calls, an in-person consensus conference, and collaborative manuscript preparation. Panel members were from 8 countries and included adult and pediatric experts in epilepsy, electroencephalography (EEG), and neurocritical care. The proposed consensus definitions are as follows: NORSE is a clinical presentation, not a specific diagnosis, in a patient without active epilepsy or other preexisting relevant neurological disorder, with new onset of refractory status epilepticus without a clear acute or active structural, toxic or metabolic cause. FIRES is a subcategory of NORSE, applicable for all ages, that requires a prior febrile infection starting between 2 weeks and 24 hours prior to onset of refractory status epilepticus, with or without fever at onset of status epilepticus. Proposed consensus definitions are also provided for Infantile Hemiconvulsion-Hemiplegia and Epilepsy syndrome (IHHE) and for prolonged, refractory and super-refractory status epilepticus. This document has been endorsed by the Critical Care EEG Monitoring Research Consortium. We hope these consensus definitions will promote improved communication, permit multicenter research, and ultimately improve understanding and treatment of these conditions. Wiley Periodicals, Inc. © 2018 International League Against Epilepsy.

The Global Nonalcoholic Fatty Liver Disease Epidemic: What a Radiologist Needs to Know

PubMed Central

Pereira, Keith; Salsamendi, Jason; Casillas, Javier

2015-01-01

Nonalcoholic fatty liver disease (NAFLD) represents a spectrum of disorders from a benign steatosis to hepatocellular carcinoma (HCC). Metabolic syndrome, mainly obesity, plays an important role, both as an independent risk factor and in the pathogenesis of NAFLD. With the progressive epidemics of obesity and diabetes mellitus, the prevalence of NAFLD and its associated complications is expected to increase dramatically. Therapeutic strategies for treating NAFLD and metabolic syndrome, particularly obesity, are continuously being refined. Their goal is the prevention of NAFLD by the management of risk factors, prevention of progression of the disease, as well as management of complications, ultimately preventing morbidity and mortality. Optimal management of NAFLD and metabolic syndrome requires a multidisciplinary collaboration between the government as well as the health system including the nutritionist, primary care physician, radiologist, hepatologist, oncologist, and transplant surgeon. An awareness of the clinical presentation, risk factors, pathogenesis, diagnosis, and management is of paramount importance to a radiologist, both from the clinical perspective as well as from the imaging standpoint. With expertise in imaging modalities as well as minimally invasive percutaneous endovascular therapies, radiologists play an essential role in the comprehensive management, which is highlighted in this article, with cases from our practice. We also briefly discuss transarterial embolization of the left gastric artery (LGA), a novel method that promises to have an enormous potential in the minimally invasive management of obesity, with details of a case from our practice. PMID:26167390

Effectiveness of ultrasound therapy for myofascial pain syndrome: a systematic review and meta-analysis

PubMed Central

Xia, Peng; Wang, Xiaoju; Lin, Qiang; Cheng, Kai; Li, Xueping

2017-01-01

Objective The objective of this review was to assess the therapeutic effect of ultrasound (US) on myofascial pain syndrome (MPS). Date sources PubMed, Embase, and Cochrane Library were searched to find relevant studies from January 1966 to May 2016 using keywords. Four investigators performed the data extraction. Study selection Randomized controlled trials (RCTs) investigating the outcomes of pain and physical function between MPS patients receiving and not receiving US were selected by two researchers independently. Data extraction Data were extracted from the RCTs. Risk of bias and study quality were evaluated following the recommendations of Cochrane Collaboration. Standardized mean difference (SMD) and 95% confidence interval (CI) were calculated. Data synthesis A total of 10 studies involving 428 MPS patients were included. US therapy significantly reduced pain intensity (SMD [CI]=−1.41 [−2.15, −0.67], P=0.0002) and increased pain threshold (SMD [CI]=1.08 [0.55, 1.60], P<0.0001), but had no significant effect on cervical range of motion (ROM) of lateral flexion (SMD [CI]=0.40 [−0.19, 0.99], P=0.19), rotation (SMD [CI]=0.10 [−0.33, 0.52], P=0.66), or extension or flexion (SMD [CI]=0.16 [−0.35, 0.68], P=0.53). Heterogeneity between studies was mainly attributed to differences in the follow-up time, parameter of US, course of treatment, and the control group. The overall risk of bias from the included studies was high, and the evidence proving these effect calculations were assessed as low quality. Conclusion Owing to the high risk of bias and the across-trial heterogeneity of the studies, the current evidence is not clear enough to support US as an effective method to treat MPS. Clinical trials with methodological rigorousness and adequate power are needed to confirm it in the future. PMID:28331357

Rapid Rule-out of Acute Myocardial Infarction With a Single High-Sensitivity Cardiac Troponin T Measurement Below the Limit of Detection: A Collaborative Meta-analysis.

PubMed

Pickering, John W; Than, Martin P; Cullen, Louise; Aldous, Sally; Ter Avest, Ewoud; Body, Richard; Carlton, Edward W; Collinson, Paul; Dupuy, Anne Marie; Ekelund, Ulf; Eggers, Kai M; Florkowski, Christopher M; Freund, Yonathan; George, Peter; Goodacre, Steve; Greenslade, Jaimi H; Jaffe, Allan S; Lord, Sarah J; Mokhtari, Arash; Mueller, Christian; Munro, Andrew; Mustapha, Sebbane; Parsonage, William; Peacock, W Frank; Pemberton, Christopher; Richards, A Mark; Sanchis, Juan; Staub, Lukas P; Troughton, Richard; Twerenbold, Raphael; Wildi, Karin; Young, Joanna

2017-05-16

High-sensitivity assays for cardiac troponin T (hs-cTnT) are sometimes used to rapidly rule out acute myocardial infarction (AMI). To estimate the ability of a single hs-cTnT concentration below the limit of detection (<0.005 µg/L) and a nonischemic electrocardiogram (ECG) to rule out AMI in adults presenting to the emergency department (ED) with chest pain. EMBASE and MEDLINE without language restrictions (1 January 2008 to 14 December 2016). Cohort studies involving adults presenting to the ED with possible acute coronary syndrome in whom an ECG and hs-cTnT measurements were obtained and AMI outcomes adjudicated during initial hospitalization. Investigators of studies provided data on the number of low-risk patients (no new ischemia on ECG and hs-cTnT measurements <0.005 µg/L) and the number who had AMI during hospitalization (primary outcome) or a major adverse cardiac event (MACE) or death within 30 days (secondary outcomes), by risk classification (low or not low risk). Two independent epidemiologists rated risk of bias of studies. Of 9241 patients in 11 cohort studies, 2825 (30.6%) were classified as low risk. Fourteen (0.5%) low-risk patients had AMI. Sensitivity of the risk classification for AMI ranged from 87.5% to 100% in individual studies. Pooled estimated sensitivity was 98.7% (95% CI, 96.6% to 99.5%). Sensitivity for 30-day MACEs ranged from 87.9% to 100%; pooled sensitivity was 98.0% (CI, 94.7% to 99.3%). No low-risk patients died. Few studies, variation in timing and methods of reference standard troponin tests, and heterogeneity of risk and prevalence of AMI across studies. A single hs-cTnT concentration below the limit of detection in combination with a nonischemic ECG may successfully rule out AMI in patients presenting to EDs with possible emergency acute coronary syndrome. Emergency Care Foundation.

Leaders' Experiences with High School-College Writing Center Collaborations: A Qualitative Multiple-Case Study

ERIC Educational Resources Information Center

Story, Julie A.

2014-01-01

The purpose of this qualitative multiple-case study was to explore academic leaders' experiences with the organizational elements of their own high school-college writing center collaborations. Conjoining theories framed this study: collaborative leadership theory, Kenneth Bruffee's notion of social constructionism and collaborative learning…

Negotiating a Team Identity through Collaborative Self-Study

ERIC Educational Resources Information Center

Tuval, Smadar; Barak, Judith; Gidron, Ariela

2011-01-01

This study presents our emerging understanding of the meaning of collaborative self-study as one of the mechanisms that facilitates effective, productive collaboration. Stemming from our experience of collaborative professional life over eight years, we explore the crisis we confronted as a professional learning community, the tensions underlying…

Participation, Interaction and Social Presence: An Exploratory Study of Collaboration in Online Peer Review Groups

ERIC Educational Resources Information Center

Zhao, Huahui; Sullivan, Kirk P. H.; Mellenius, Ingmarie

2014-01-01

A key reason for using asynchronous computer conferencing in instruction is its potential for supporting collaborative learning. However, few studies have examined collaboration in computer conferencing. This study examined collaboration in six peer review groups within an asynchronous computer conferencing. Eighteen tertiary students participated…

[Hand and finger anomalous developmental coordination to write in children with attention deficit/hyperactivity syndrome].

PubMed

Pascual-Castroviejo, I; Lobo-Llorente, A

To present a developmental coordination disorder in children with attention deficit/hyperactivity syndrome (ADHS) characterized by anomalous handwriting posture of hands and fingers. Forty-five children who presented with ADHS were studied (39 males and 6 females) with ages ranging from 6 to 16 years (average 10.8 years) and an analysis of the position of the hands and fingers during handwriting was made within the context of a complete neurological evaluation. Only 2 of the 6 hyperactive patients showed a discrete anomalous posture of the fingers, with normality in the other four patients. Seventeen of the 25 children (68%) with ADHS combined type showed poor posture of the fingers when writing. Among the 14 children with ADHS attention deficit type, 8 had abnormal posture when using a pencil, and 4 had shown the problem several years before consulting, and the problem had disappeared after local orthopedic treatment. All 4 left-handed children (3 females and 1 male) presented abnormal posture of the fingers when writing. Evaluation of the anomalous posture of the fingers when writing of patients with ADHS is a test that we commonly use because it is easy to do, the patients collaborate very well to do it and uncovers very early the developmental coordination disorder. The anomalous posture is associated with other coordination disorders and problems of muscular tone such as splay-foot, genu recurvatum, problems with jumping, walking on one foot, etc. in most patients.

EPCAL: ETS Platform for Collaborative Assessment and Learning. Research Report. ETS RR-17-49

ERIC Educational Resources Information Center

Hao, Jiangang; Liu, Lei; von Davier, Alina A.; Lederer, Nathan; Zapata-Rivera, Diego; Jaki, Peter; Bakkenson, Michael

2017-01-01

Most existing software tools for online collaboration are designed to support the collaboration itself instead of the study of collaboration with a systematic team and task management system. In this report, we identify six important features for a platform to facilitate the study of online collaboration. We then introduce the Educational Testing…

Coming to terms: a case study of hospice collaboration challenges.

PubMed

Pietroburgo, Julie; Bush, Richard

Recent research has focused on the growing phenomenon of mergers, collaborations, and alliances among nonprofit organizations and what makes such arrangements work. Examination of failed collaborative efforts is perhaps just as instructive. This case study examines recent attempts at collaboration between 2 nonprofit hospice organizations. The study finds that despite compelling reasons for and significant commonalities on which to base collaboration, the organizations were initially unable to forge any ongoing and substantive collaborative arrangement because of insurmountable cultural factors and past history. Furthermore, without imminent external pressures to collaborate, these organizations had insufficient motivation to attempt to move beyond their differences. The case also reviews the changed circumstances and factors that later facilitated partnering attempts.

The influence of learning methods on collaboration: prior repeated retrieval enhances retrieval organization, abolishes collaborative inhibition, and promotes post-collaborative memory.

PubMed

Congleton, Adam R; Rajaram, Suparna

2011-11-01

Research on collaborative memory has unveiled the counterintuitive yet robust phenomenon that collaboration impairs group recall. A candidate explanation for this collaborative inhibition effect is the disruption of people's idiosyncratic retrieval strategies during collaboration, and it is hypothesized that employing methods that improve one's organization protects against retrieval disruption. Here it is investigated how one's learning method during the study phase--defined as either repeatedly studying or repeatedly retrieving information--influences retrieval organization and what effects this has on collaborative recall and post-collaborative individual recall. Results show that repeated retrieval consistently eliminated collaborative inhibition. This enabled participants to gain the most from re-exposure to materials recalled by their partners that they themselves did not recall and led to improvements in their individual memory following collaboration. This repeated retrieval advantage stemmed from the preferential manner in which this learning method strengthened retrieval organization. Findings are also discussed that reveal a relationship between retrieval organization and the interaction observed between learning method and short versus long delay seen in the testing effect literature. Finally, results show that the elusive benefits of cross-cuing during collaboration may be best detected with a longer study-test delay. Together, these findings illuminate when and how collaboration can enhance memory.

The growing prevalence of kidney stones and opportunities for prevention.

PubMed

Richman, Katherine; O'Bell, John; Pareek, Gyan

2014-12-02

The prevalence of kidney stones is climbing in the United States. Several investigators have demonstrated an association between metabolic syndrome and kidney stones and some have proposed a causal link. Risk factors for nephrolithiasis can be identified with a 24-hour urine collection and preventive measures can be customized to meet the needs of individual patients. Dietary and pharmacologic interventions are available to address urinary risk factors such as inadequate urine volume, hypercalcuria, hyperoxaluria, hyperuricosuria and hypocitraturia. Given that morbidity and healthcare costs associated with nephrolithiasis are on the rise, deterring stone formation is increasingly important. Multidisciplinary clinics that foster collaboration between urologists, nephrologists and dieticians offer patients effective prevention and treatment strategies.

PubMed

Pelizza, Paolo

2017-08-28

For a long time, European legislation has not considered the Obstructive Sleep Apnea Syndrome (OSAS) a relevant factor for road safety. In Italy, in 2010 the Scientific Society of Legal Medicine COMLAS published Guidelines for the assessment of fitness to drive. An entire chapter, written in collaboration with the Commission "Sleepiness, Safety and Transportation" of the Italian Association of Sleep Medicine (AIMS), is dedicated to the criteria for assessing fitness to drive of people with OSAS or narcolepsy. Only in 2016, following the adoption of European Commission Directive 2014/85/EU, Italian law recognized OSAS as a condition to be considered in the assessment of fitness to drive. The author discusses the ascertainment criteria and the medico-legal implications regarding information to patients and reporting duty.

Musculoskeletal and overgrowth syndromes associated with cutaneous abnormalities

PubMed Central

Morris, Michael A; Ring, Christina M; Mehregan, Darius; Mulligan, Michael E

2016-01-01

There are cutaneous abnormalities that are characteristic to certain peculiar musculoskeletal conditions. The understanding of associated imaging and clinical skin findings together in this context can play an important role for the dermatologist and radiologist in establishing the correct diagnoses. The scope of dermatological manifestations of many acquired diseases of the soft tissues, muscles or bone is broad. Therefore, the intent of this article is to review those entities that are genetic and/or inherited. The goal of this review is to develop a better understanding of the cases presented. In these cases, collaboration between dermatologists and radiologists may be paramount to generating a diagnosis and monitoring at-risk patients. PMID:27537080

Burnout among nurses working in social welfare centers for the disabled.

PubMed

Lahana, Eleni; Papadopoulou, Konstantina; Roumeliotou, Olga; Tsounis, Andreas; Sarafis, Pavlos; Niakas, Dimitris

2017-01-01

In the healthcare sector, we often come across the burnout syndrome. It is an occupational syndrome which causes, physical and emotional exhaustion. More information is needed on the dangers of burnout and how often it occurs in healthcare. The purpose of this study was to investigate burnout and factors associated with the syndrome among nurses working with people that are mentally challenged. A cross-sectional survey was conducted, among 180 nurses working in public health centers for the disabled in multiple regions of Greece. A self-administered questionnaire with questions about socio-demographic and work-related characteristics was used, as well as the Maslach Burnout Inventory (MBI) for burnout assessment. Univariate and multivariate analyzes were performed. The burnout dimensions of emotional exhaustion (Mean = 31.36) and depersonalization (Mean = 11.27) were at high levels while personal accomplishment was at low levels (Mean = 44.02). Female nurses had a higher personal accomplishment score (Mean = 44.82, p =  0.047) than men (Mean = 42.10, p =  0.047). Marital status, daily routine and relationships with supervisors were significantly related with emotional exhaustion and personal accomplishment and professional experience with higher levels of emotional exhaustion and depersonalization. Reason for professional selection was an independent predictor for depersonalization and personal accomplishment, with those that have selected the nursing profession randomly or because of the fear of unemployment having higher scores. Moderate relationships with colleagues was an independent predictor for all burnout dimensions. Nurses working in services for people with intellectual disabilities in Greece show increased burnout levels. Burnout can be prevented by offering more opportunities for professional advancement and education, new ways to provide supervisor support, provide incentives for nurses to initiate or participate in innovative programs. Specific training on conflict resolution, collaboration, reinforcement and stress coping techniques must be implemented.

Study on Collaborative Object Manipulation in Virtual Environment

NASA Astrophysics Data System (ADS)

Mayangsari, Maria Niken; Yong-Moo, Kwon

This paper presents comparative study on network collaboration performance in different immersion. Especially, the relationship between user collaboration performance and degree of immersion provided by the system is addressed and compared based on several experiments. The user tests on our system include several cases: 1) Comparison between non-haptics and haptics collaborative interaction over LAN, 2) Comparison between non-haptics and haptics collaborative interaction over Internet, and 3) Analysis of collaborative interaction between non-immersive and immersive display environments.

Study on correspondence between prescription and syndrome and the essence of phlegm and blood stasis syndrome in coronary heart disease based on metabonomics.

PubMed

Lu, Xiao-yan; Xu, Hao; Li, Geng; Zhao, Tie

2014-01-01

Studying the essence of a syndrome has been a key challenge in the field of Chinese medicine. Until now, due to limitations of the methods available, the progress towards understanding such complicated systems has been slow. Metabonomics encompasses the dynamics, composition and analysis of metabolites, enabling the observation of changes in the metabolic network of the human body associated with disease. Being from the point of view of the whole organism, metabonomics provides an opportunity to study the essence of a syndrome to an unprecedented level. Phlegm and blood stasis syndrome is the main syndrome associated with coronary heart disease (CHD), which bring difficulties in clinical treatment due to difficulties associated with differentiation of symptoms and signs. The fundamental differences of material between the two also need to be interpreted. The authors consider that we can use the method of combining a disease (in this case CHD) with associated syndromes (phlegm and blood stasis syndrome) to select patients with phlegm and blood stasis syndrome of CHD, and utilize metabonomics to explore the essence of the syndrome by difference analysis of metabolite spectra. Meanwhile, we can study the syndrome in CM, observe the change regularity of metabolism spectra after the treatment of corresponding and non-corresponding prescription and syndrome, in order to validate the material fundament in the progress of syndrome formation and their differences. This will not only have great significance in enhancing the ability to identify syndrome of phlegm and blood stasis in CHD and to establish the clinical curative criteria, but will also offer a new approach of studying the essence for a syndrome using metabonomics.

Borderline personality disorder and polycystic ovary syndrome: A review of the literature.

PubMed

Tan, Raelene Ym; Grigg, Jasmin; Kulkarni, Jayashri

2018-02-01

This review examines the existing evidence for the relationship between borderline personality disorder and polycystic ovary syndrome, and to identify commonalities in etiological mechanisms of borderline personality disorder and polycystic ovary syndrome that might explain the relationship between these seemingly disparate disorders. A search of Medline, EMBASE and Cochrane Central was undertaken on 5 December 2016 to identify studies investigating women with borderline personality disorder and polycystic ovary syndrome (or symptoms and markers specific to polycystic ovary syndrome). Nine studies were identified, including three cross-sectional studies investigating symptoms of polycystic ovary syndrome in women with borderline personality disorder, two cross-sectional and one cohort study examining the prevalence of psychiatric diagnoses in women with polycystic ovary syndrome and three case reports of comorbid borderline personality disorder and polycystic ovary syndrome. Overall, the literature shows women with borderline personality disorder to have higher than expected serum androgen levels and incidence of polycystic ovaries, which can be key features of polycystic ovary syndrome. However, this research is still in its infancy, which limits our understanding of this potential comorbid phenomenon. Given the emerging anecdotal and empirical evidence to date, a theoretical discussion of the potential psychoneuroendocrinological mechanism underlying the borderline personality disorder and polycystic ovary syndrome comorbidity is provided. Further rigorous studies using standardized diagnostic criteria for polycystic ovary syndrome are warranted. Specifically, the use of prospective controlled cohort studies may be able to determine the causality and temporality of observed comorbid borderline personality disorder and polycystic ovary syndrome.

A Pilot Study: Facilitating Cross-Cultural Understanding with Project-Based Collaborative Learning in an Online Environment

ERIC Educational Resources Information Center

Shadiev, Rustam; Hwang, Wu-Yuin; Huang, Yueh-Min

2015-01-01

This study investigated three aspects: how project-based collaborative learning facilitates cross-cultural understanding; how students perceive project-based collaborative learning implementation in a collaborative cyber community (3C) online environment; and what types of communication among students are used. A qualitative case study approach…

A Web-Based Synchronous Collaborative Review Tool: A Case Study of an On-Line Graduate Course

ERIC Educational Resources Information Center

Serce, Fatma Cemile; Yildirim, Soner

2006-01-01

On-line collaboration is an instructional method that facilitates collaboration in an on-line learning setting. To promote effective collaboration, it is vital to reveal both the student's and the instructor's point of view pertaining to effective on-line collaboration. In this study, the effectiveness of a learning management system in on-line…

In-Hospital Outcomes of Dual Loading Antiplatelet Therapy in Patients 75 Years and Older With Acute Coronary Syndrome Undergoing Percutaneous Coronary Intervention: Findings From the CCC-ACS (Improving Care for Cardiovascular Disease in China-Acute Coronary Syndrome) Project.

PubMed

Zhao, Guanqi; Zhou, Mengge; Ma, Changsheng; Huo, Yong; Smith, Sidney C; Fonarow, Gregg C; Ge, Junbo; Han, Yaling; Liu, Jing; Hao, Yongchen; Liu, Jun; Wang, Xiao; Taubert, Kathryn A; Morgan, Louise; Zhao, Dong; Nie, Shaoping

2018-03-30

Elderly patients with acute coronary syndrome (ACS) are at high risk for ischemic and bleeding events. This study aimed to evaluate the clinical effectiveness and safety of dual loading antiplatelet therapy for patients 75 years and older undergoing percutaneous coronary intervention for ACS. The Improving Care for Cardiovascular Disease in China-ACS project was a collaborative study of the American Heart Association and Chinese Society of Cardiology. A total of 5887 patients 75 years and older with ACS who had percutaneous coronary intervention and received dual antiplatelet therapy with aspirin and P2Y 12 inhibitors (clopidogrel or ticagrelor) between November 2014 and June 2017 were enrolled. The primary effectiveness and safety outcomes were in-hospital major adverse cardiovascular events and major bleeding. Hazard ratios (HRs) of in-hospital outcomes with different loading statuses of antiplatelet therapy were estimated using Cox proportional hazard models with multivariate adjustment. A propensity score-matched analysis was also conducted. Compared with patients receiving a dual nonloading dose, patients taking a dual loading dose had increased risks of both major adverse cardiovascular events (HR, 1.66, 95% confidence interval, 1.13-2.44; [ P =0.010]) and major bleeding (HR, 2.34, 95% confidence interval, 1.75-3.13; [ P <0.001]). Among 3284 propensity score-matched patients, a dual loading dose was associated with a 1.36-fold risk of major adverse cardiovascular events (HR, 1.36; 95% confidence interval, 0.88-2.11 [ P =0.168]) and a 2.08-fold risk of major bleeding (HR, 2.08; 95% confidence interval, 1.47-2.93 [ P <0.001]). A dual loading dose of antiplatelet therapy was associated with increased major bleeding risk but not with decreased major adverse cardiovascular events risk among patients 75 years and older undergoing percutaneous coronary intervention for ACS in China. URL: http://www.ClinicalTrials.gov. Unique identifier: NCT02306616. © 2018 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley.

Viewing Social Scenes: A Visual Scan-Path Study Comparing Fragile X Syndrome and Williams Syndrome

ERIC Educational Resources Information Center

Williams, Tracey A.; Porter, Melanie A.; Langdon, Robyn

2013-01-01

Fragile X syndrome (FXS) and Williams syndrome (WS) are both genetic disorders which present with similar cognitive-behavioral problems, but distinct social phenotypes. Despite these social differences both syndromes display poor social relations which may result from abnormal social processing. This study aimed to manipulate the location of…

The biopolitics of CFS/ME.

PubMed

Karfakis, Nikos

2018-06-08

This paper argues that Chronic Fatigue Syndrome/Myalgic Encephalomyelitis (CFS/ME) constitutes a biopolitical problem, a scientific object which needs to be studied, classified and regulated. Assemblages of authorities, knowledges and techniques make CFS/ME subjects and shape their everyday conduct in an attempt to increase their supposed autonomy, wellbeing and health. CFS and CFS/ME identities are however made not only through government, scientific, and medical interventions but also by the patients themselves, a biosocial community who collaborates with scientists, educates itself about the intricacies of biomedicine, and contests psychiatric truth claims. CFS/ME is an illness trapped between medicine and psychology, an illness that is open to debate and therefore difficult to manage and standardise. The paper delineates different interventions by medicine, science, the state and the patients themselves and concludes that CFS/ME remains elusive, only partially standardised, in an on-going battle between all the different actors that want to define it for their own situated interests. Copyright © 2018 Elsevier Ltd. All rights reserved.

Severe community-acquired pneumonia: timely management measures in the first 24 hours.

PubMed

Phua, Jason; Dean, Nathan C; Guo, Qi; Kuan, Win Sen; Lim, Hui Fang; Lim, Tow Keang

2016-08-28

Mortality rates for severe community-acquired pneumonia (CAP) range from 17 to 48 % in published studies.In this review, we searched PubMed for relevant papers published between 1981 and June 2016 and relevant files. We explored how early and aggressive management measures, implemented within 24 hours of recognition of severe CAP and carried out both in the emergency department and in the ICU, decrease mortality in severe CAP.These measures begin with the use of severity assessment tools and the application of care bundles via clinical decision support tools. The bundles include early guideline-concordant antibiotics including macrolides, early haemodynamic support (lactate measurement, intravenous fluids, and vasopressors), and early respiratory support (high-flow nasal cannulae, lung-protective ventilation, prone positioning, and neuromuscular blockade for acute respiratory distress syndrome).While the proposed interventions appear straightforward, multiple barriers to their implementation exist. To successfully decrease mortality for severe CAP, early and close collaboration between emergency medicine and respiratory and critical care medicine teams is required. We propose a workflow incorporating these interventions.

Comparative study on collaborative interaction in non-immersive and immersive systems

NASA Astrophysics Data System (ADS)

Shahab, Qonita M.; Kwon, Yong-Moo; Ko, Heedong; Mayangsari, Maria N.; Yamasaki, Shoko; Nishino, Hiroaki

2007-09-01

This research studies the Virtual Reality simulation for collaborative interaction so that different people from different places can interact with one object concurrently. Our focus is the real-time handling of inputs from multiple users, where object's behavior is determined by the combination of the multiple inputs. Issues addressed in this research are: 1) The effects of using haptics on a collaborative interaction, 2) The possibilities of collaboration between users from different environments. We conducted user tests on our system in several cases: 1) Comparison between non-haptics and haptics collaborative interaction over LAN, 2) Comparison between non-haptics and haptics collaborative interaction over Internet, and 3) Analysis of collaborative interaction between non-immersive and immersive display environments. The case studies are the interaction of users in two cases: collaborative authoring of a 3D model by two users, and collaborative haptic interaction by multiple users. In Virtual Dollhouse, users can observe physics law while constructing a dollhouse using existing building blocks, under gravity effects. In Virtual Stretcher, multiple users can collaborate on moving a stretcher together while feeling each other's haptic motions.

Short-term and long-term collaboration benefits on individual recall in younger and older adults

PubMed Central

Stern, Yaakov

2011-01-01

A recent study of younger adults suggests that, compared to repeated individual recall trials, repeated collaborative recall trials produce better individual recall after a short delay (Blumen & Rajaram, 2008). Our study was designed to determine if such collaboration benefits would remain after a one-week delay, in both younger and older adults. Sixty younger (M age = 24.60) and 60 older (M age = 67.35) adults studied a list of words and then completed either two collaborative recall trials followed by two individual recall trials, or four individual recall trials. A five-min delay was inserted between the first three recall trials. The fourth recall trial was administered 1 week later. Collaborative recall was completed in groups of three individuals working together. Both younger and older adults benefitted from repeated collaborative recall trials to a greater extent than repeated individual recall trials, and such collaboration benefits remained after a one-week delay. This is the first demonstration of collaboration benefits on later individual recall at delays as long as 1 week, in both younger and older adults. Findings are discussed within the context of the negative effects of collaboration associated with group memory (collaborative inhibition) and the positive effects of collaboration associated with later individual memory (collaboration benefits). PMID:21264617

Short-term and long-term collaboration benefits on individual recall in younger and older adults.

PubMed

Blumen, Helena M; Stern, Yaakov

2011-01-01

A recent study of younger adults suggests that, compared to repeated individual recall trials, repeated collaborative recall trials produce better individual recall after a short delay (Blumen & Rajaram, 2008). Our study was designed to determine if such collaboration benefits would remain after a one-week delay, in both younger and older adults. Sixty younger (M age = 24.60) and 60 older (M age = 67.35) adults studied a list of words and then completed either two collaborative recall trials followed by two individual recall trials, or four individual recall trials. A five-min delay was inserted between the first three recall trials. The fourth recall trial was administered 1 week later. Collaborative recall was completed in groups of three individuals working together. Both younger and older adults benefitted from repeated collaborative recall trials to a greater extent than repeated individual recall trials, and such collaboration benefits remained after a one-week delay. This is the first demonstration of collaboration benefits on later individual recall at delays as long as 1 week, in both younger and older adults. Findings are discussed within the context of the negative effects of collaboration associated with group memory (collaborative inhibition) and the positive effects of collaboration associated with later individual memory (collaboration benefits).

Collaboration enhances later individual memory for emotional material.

PubMed

Bärthel, Gwennis A; Wessel, Ineke; Huntjens, Rafaële J C; Verwoerd, Johan

2017-05-01

Research on collaborative remembering suggests that collaboration hampers group memory (i.e., collaborative inhibition), yet enhances later individual memory. Studies examining collaborative effects on memory for emotional stimuli are scarce, especially concerning later individual memory. In the present study, female undergraduates watched an emotional movie and recalled it either collaboratively (n = 60) or individually (n = 60), followed by an individual free recall test and a recognition test. We replicated the standard collaborative inhibition effect. Further, in line with the literature, the collaborative condition displayed better post-collaborative individual memory. More importantly, in post-collaborative free recall, the centrality of the information to the movie plot did not play an important role. Recognition rendered slightly different results. Although collaboration rendered more correct recognition for more central details, it did not enhance recognition of background details. Secondly, the collaborative and individual conditions did not differ with respect to overlap of unique correct items in free recall. Yet, during recognition former collaborators more unanimously endorsed correct answers, as well as errors. Finally, extraversion, neuroticism, social anxiety, and depressive symptoms did not moderate the influence of collaboration on memory. Implications for the fields of forensic and clinical psychology are discussed.

CE: critical care recovery center: an innovative collaborative care model for ICU survivors.

PubMed

Khan, Babar A; Lasiter, Sue; Boustani, Malaz A

2015-03-01

Five million Americans require admission to ICUs annually owing to life-threatening illnesses. Recent medical advances have resulted in higher survival rates for critically ill patients, who often have significant cognitive, physical, and psychological sequelae, known as postintensive care syndrome (PICS). This growing population threatens to overwhelm the current U.S. health care system, which lacks established clinical models for managing their care. Novel innovative models are urgently needed. To this end, the pulmonary/critical care and geriatrics divisions at the Indiana University School of Medicine joined forces to develop and implement a collaborative care model, the Critical Care Recovery Center (CCRC). Its mission is to maximize the cognitive, physical, and psychological recovery of ICU survivors. Developed around the principles of implementation and complexity science, the CCRC opened in 2011 as a clinical center with a secondary research focus. Care is provided through a pre-CCRC patient and caregiver needs assessment, an initial diagnostic workup visit, and a follow-up visit that includes a family conference. With its sole focus on the prevention and treatment of PICS, the CCRC represents an innovative prototype aimed at modifying post-critical illness morbidities and improving the ICU survivor's quality of life.

Musical ear syndrome in adult cochlear implant patients.

PubMed

Low, W-K; Tham, C A; D'Souza, V-D; Teng, S-W

2013-09-01

Except for a single case report, musical ear syndrome in cochlear implantees has not been studied. We aimed to study the prevalence and nature of musical ear syndrome among adult cochlear implant patients, as well as the effect on their emotional well-being. STUDY DESIGN, PATIENTS AND INTERVENTION: A cross-sectional survey of patients aged 18 years and above who had received cochlear implants for profound hearing loss between 1997 and 2010. Of the 82 patients studied, 18 (22 per cent) were found to have experienced musical ear syndrome. Seven and 11 patients had musical ear syndrome prior to and after cochlear implantation, respectively. The character of musical ear syndrome symptoms was described as instrumental music (n = 2), singing (6) or both (10). Fourteen patients reported an adverse emotional effect, with three expressing ‘intolerance’. In this study, 22 per cent of cochlear implantees experienced musical ear syndrome. These symptoms affected patients’ emotional state, but most coped well. Musical ear syndrome can occur prior to and after cochlear implantation.

Strategic Planning for Research in Pediatric Critical Care.

PubMed

Tamburro, Robert F; Jenkins, Tammara L; Kochanek, Patrick M

2016-11-01

To summarize the scientific priorities and potential future research directions for pediatric critical care research discussed by a panel of experts at the inaugural Strategic Planning Conference of the Pediatric Trauma and Critical Illness Branch of the Eunice Kennedy Shriver National Institute of Child Health and Human Development. Expert opinion expressed during the Strategic Planning Conference. Not applicable. Chaired by an experienced expert from the field, issues relevant to the conduct of pediatric critical care research were discussed and debated by the invited participants. Common themes and suggested priorities were identified and coalesced. Of the many pathophysiologic conditions discussed, the multiple organ dysfunction syndrome emerged as a topic in need of more study that is most relevant to the field. Additionally, the experts offered that the interrelationship and impact of critical illness on child development and family functioning are important research priorities. Consequently, long-term outcomes research was encouraged. The expert group also suggested that multidisciplinary conferences are needed to help identify key knowledge gaps to advance and direct research in the field. The Pediatric Critical Care and Trauma Scientist Development National K12 Program and the Collaborative Pediatric Critical Care Research Network were recognized as successful and important programs supported by the branch. The development of core data resources including biorepositories with robust phenotypic data using common data elements was also suggested to foster data sharing among investigators and to enhance disease diagnosis and discovery. Multicenter clinical trials and innovative study designs to address understudied and poorly understood conditions were considered important for field advancement. Finally, the growth of the pediatric critical care research workforce was offered as a priority that could be spawned in many ways including by expanded transdisciplinary and multiprofessional collaboration and diversity representation.

Thyroid function in adult Nigerians with metabolic syndrome.

PubMed

Udenze, Ifeoma; Nnaji, Ilochi; Oshodi, Temitope

2014-01-01

Metabolic syndrome and thyroid dysfunction are two common disorders encountered in the metabolic clinic. Recently, there has been increased interest in the association between the two disorders because of the similarities between symptoms of hypothyroidism and components of the metabolic syndrome. While some reports suggest that metabolic syndrome is associated with subclinical hypothyroidism, this concept is largely under investigated in Nigerian adults with metabolic syndrome. The aim of this study is to determine the thyroid function status of adult Nigerians with metabolic syndrome and determine the association, if any, between metabolic syndrome and thyroid function. This was a cross sectional study of one hundred and fifty adults, members of staff of the College of Medicine of the University of Lagos. The participants were recruited using a cluster random sampling method. The Ethical Research & Review Committee of the institution approved the study protocol and signed informed consent was obtained from the participants. The statistics was analysed using the IBM SPSS Software of version 19.0. The Student's t test, Chi square test and multivariate regression analysis were employed for the analysis. Statistical significance was set at p < 0.05. Thirty nine (twenty-six percent) of the study participants had metabolic syndrome and one hundred and eleven (seventy-four percent) of the study participants did not have metabolic syndrome, served as controls. Those who had metabolic syndrome group were significantly older (p = 0.03), metabolic syndrome was significantly associated with the female gender (p = 0.0002), higher systolic blood pressure (p = 0.0034), diastolic blood pressure (p = 0.0009), waist circumference (p < 0.0001), body mass index (p < 0.0001), waist-hip ratio (p = 0.003), fasting serum glucose (p = 0.0457) and free thyroxine (fT4) levels (p = 0.0496). Those with metabolic syndrome had significantly lower HDL (P = 0.004) and free triiodothyronine (fT3) levels (p = 0.037). There was no statistically significant difference in the thyroid stimulating hormone (TSH) levels between individuals with and without metabolic syndrome. Thirty-three percent of the metabolic syndrome cases had sick euthyroid syndrome (p= < 0.0001). In multivariate regression, waist circumference was significantly and inversely associated with the sick euthyroid syndrome (p = 0.011). Metabolic syndrome is associated with the sick euthyroid syndrome in adult Nigerians. Abdominal obesity appears to be the link between metabolic syndrome and the sick euthyroid syndrome.

Methodological Challenges for Collaborative Learning Research

ERIC Educational Resources Information Center

Strijbos, Jan-Willem; Fischer, Frank

2007-01-01

Research on collaborative learning, both face-to-face and computer-supported, has thrived in the past 10 years. The studies range from outcome-oriented (individual and group learning) to process-oriented (impact of interaction on learning processes, motivation and organisation of collaboration) to mixed studies. Collaborative learning research is…

Effectiveness of Collaborative Learning with 3D Virtual Worlds

ERIC Educational Resources Information Center

Cho, Young Hoan; Lim, Kenneth Y. T.

2017-01-01

Virtual worlds have affordances to enhance collaborative learning in authentic contexts. Despite the potential of collaborative learning with a virtual world, few studies investigated whether it is more effective in student achievements than teacher-directed instruction. This study investigated the effectiveness of collaborative problem solving…

Global and Local Collaborators: A Study of Scientific Collaboration.

ERIC Educational Resources Information Center

Pao, Miranda Lee

1992-01-01

Describes an empirical study that was conducted to examine the relationship among scientific co-authorship (i.e., collaboration), research funding, and productivity. Bibliographic records from the MEDLINE database that used the subject heading for schistosomiasis are analyzed, global and local collaborators are discussed, and scientific…

[Study on qi deficiency syndrome distribution and quality of life in patients with advanced non-small cell lung cancer].

PubMed

Yuan, Lin; Zhang, Pei-tong; Yang, Zong-yan

2011-07-01

To study the qi deficiency syndrome distribution and quality of life (QOL) of patients with advanced non-small cell lung cancer (NSCLC). A questionnaire survey was conducted in 120 patients with advanced NSCLC using the QOL scale "Functional Assessment of Cancer Therapy" (FACT-L) (Version 4.0). Meanwhile, syndrome typing was performed. On the basis of results of syndrome typing, patients of different syndrome types were grouped and compared, thus studying the distribution of advanced NSCLC patients of qi deficiency syndrome and qi deficiency syndrome correlated QOL features. Qi deficiency, blood stasis, yin deficiency, phlegm and dampness dominated in syndrome types of the 120 patients with advanced NSCLC. Of syndrome types accounting for larger ratios in 112 patients, pure qi deficiency syndrome accounted for 30.36% (34 cases), qi deficiency and blood stasis syndrome for 18. 75% (21 cases), both qi and yin deficiency syndrome for 10. 71% (12 cases). There was no correlation between the appearance of qi deficiency syndrome and patients' age, sex, pathological typing (adenocarcinoma/squamous carcinoma), or the disease duration. NSCLC patients in phase IV were mostly complicated with qi deficiency syndrome (P<0.05). Scores of physical states, emotional states, functional states, and total scores in the FACT-L scale were lower in those complicated with qi deficiency syndrome (89 cases) than in those without complicated qi deficiency syndrome (31 cases), showing statistical difference (P<0.01, P<0.05). The scores of the lung cancer specific module (additional concerns) in the FACT-L scale showed statistical difference, sequenced as qi deficiency and blood stasis syndrome > pure qi deficiency syndrome > both qi and yin deficiency syndrome (P<0.05). Qi deficiency syndrome is the main syndrome of advanced NSCLC. The QOL of advanced NSCLC patients complicated with qi deficiency syndrome was poorer than those without complicated qi deficiency syndrome. Besides, along with the aggravation of qi deficiency syndrome, the QOL decreased somewhat. It suggested that symptomatic treatment of qi deficiency syndrome could improve advanced NSCLC patients' QOL.

[Chronic fatigue syndrome in a cognitive perspective. A therapeutic model].

PubMed

d'Elia, Giacomo

2004-01-29

The cognitive approach to the treatment of chronic fatigue syndrome (CSF) is based on a multifactor etiological hypothesis, i.e. inaccurate beliefs and attitudes to the illness interact with pathophysiological processes, ineffective coping behaviours, negative states of mood, social problem, to perpetuate the illness. Patients suffering from CFS are supposed to be hypervigilant to somatic sensations and to interpret them as signs of impending physical catastrophe. The aim of the this paper is to describe the clinical implementation of principles of cognitive therapy in the treatment of CFS. Basic to the treatment approach is a collaborative, listening and empathic attitude, sensitive to the patient's personal beliefs and potential threats to self-esteem. The aim is to develop more useful, functional, formulations of the illness. The patient and the therapist work together to look at how the patient thinks about herself/himself and the illness, detect unhelpful attitudes, thoughts and mental images about the illness, and to make them accessible to Socratic reasoning. Graded behavioural interventions are planned in order to disconfirm unhelpful beliefs and reverse the spiral of tiredness, demoralization and reduced activity. The treatment is structured according to the general principles of cognitive therapy.

Nbn and atm cooperate in a tissue and developmental stage-specific manner to prevent double strand breaks and apoptosis in developing brain and eye.

PubMed

Rodrigues, Paulo M G; Grigaravicius, Paulius; Remus, Martina; Cavalheiro, Gabriel R; Gomes, Anielle L; Rocha-Martins, Maurício; Martins, Mauricio R; Frappart, Lucien; Reuss, David; McKinnon, Peter J; von Deimling, Andreas; Martins, Rodrigo A P; Frappart, Pierre-Olivier

2013-01-01

Nibrin (NBN or NBS1) and ATM are key factors for DNA Double Strand Break (DSB) signaling and repair. Mutations in NBN or ATM result in Nijmegen Breakage Syndrome and Ataxia telangiectasia. These syndromes share common features such as radiosensitivity, neurological developmental defects and cancer predisposition. However, the functional synergy of Nbn and Atm in different tissues and developmental stages is not yet understood. Here, we show in vivo consequences of conditional inactivation of both genes in neural stem/progenitor cells using Nestin-Cre mice. Genetic inactivation of Atm in the central nervous system of Nbn-deficient mice led to reduced life span and increased DSBs, resulting in increased apoptosis during neural development. Surprisingly, the increase of DSBs and apoptosis was found only in few tissues including cerebellum, ganglionic eminences and lens. In sharp contrast, we showed that apoptosis associated with Nbn deletion was prevented by simultaneous inactivation of Atm in developing retina. Therefore, we propose that Nbn and Atm collaborate to prevent DSB accumulation and apoptosis during development in a tissue- and developmental stage-specific manner.

Clinical End Points and Response Criteria in Mycosis Fungoides and Sézary Syndrome: A Consensus Statement of the International Society for Cutaneous Lymphomas, the United States Cutaneous Lymphoma Consortium, and the Cutaneous Lymphoma Task Force of the European Organisation for Research and Treatment of Cancer

PubMed Central

Olsen, Elise A.; Whittaker, Sean; Kim, Youn H.; Duvic, Madeleine; Prince, H. Miles; Lessin, Stuart R.; Wood, Gary S.; Willemze, Rein; Demierre, Marie-France; Pimpinelli, Nicola; Bernengo, Maria Grazia; Ortiz-Romero, Pablo L.; Bagot, Martine; Estrach, Teresa; Guitart, Joan; Knobler, Robert; Sanches, José Antonio; Iwatsuki, Keiji; Sugaya, Makoto; Dummer, Reinhard; Pittelkow, Mark; Hoppe, Richard; Parker, Sareeta; Geskin, Larisa; Pinter-Brown, Lauren; Girardi, Michael; Burg, Günter; Ranki, Annamari; Vermeer, Maartan; Horwitz, Steven; Heald, Peter; Rosen, Steve; Cerroni, Lorenzo; Dreno, Brigette; Vonderheid, Eric C.

2011-01-01

Mycosis fungoides (MF) and Sézary syndrome (SS), the major forms of cutaneous T-cell lymphoma, have unique characteristics that distinguish them from other types of non-Hodgkin's lymphomas. Clinical trials in MF/SS have suffered from a lack of standardization in evaluation, staging, assessment, end points, and response criteria. Recently defined criteria for the diagnosis of early MF, guidelines for initial evaluation, and revised staging and classification criteria for MF and SS now offer the potential for uniform staging of patients enrolled in clinical trials for MF/SS. This article presents consensus recommendations for the general conduct of clinical trials of patients with MF/SS as well as methods for standardized assessment of potential disease manifestations in skin, lymph nodes, blood, and visceral organs, and definition of end points and response criteria. These guidelines should facilitate collaboration among investigators and collation of data from sponsor-generated or investigator-initiated clinical trials involving patients with MF or SS. PMID:21576639

A unified approach for EIT imaging of regional overdistension and atelectasis in acute lung injury.

PubMed

Gómez-Laberge, Camille; Arnold, John H; Wolf, Gerhard K

2012-03-01

Patients with acute lung injury or acute respiratory distress syndrome (ALI/ARDS) are vulnerable to ventilator-induced lung injury. Although this syndrome affects the lung heterogeneously, mechanical ventilation is not guided by regional indicators of potential lung injury. We used electrical impedance tomography (EIT) to estimate the extent of regional lung overdistension and atelectasis during mechanical ventilation. Techniques for tidal breath detection, lung identification, and regional compliance estimation were combined with the Graz consensus on EIT lung imaging (GREIT) algorithm. Nine ALI/ARDS patients were monitored during stepwise increases and decreases in airway pressure. Our method detected individual breaths with 96.0% sensitivity and 97.6% specificity. The duration and volume of tidal breaths erred on average by 0.2 s and 5%, respectively. Respiratory system compliance from EIT and ventilator measurements had a correlation coefficient of 0.80. Stepwise increases in pressure could reverse atelectasis in 17% of the lung. At the highest pressures, 73% of the lung became overdistended. During stepwise decreases in pressure, previously-atelectatic regions remained open at sub-baseline pressures. We recommend that the proposed approach be used in collaborative research of EIT-guided ventilation strategies for ALI/ARDS.

Refractory chronic cough, or the need to focus on the relationship between the larynx and the esophagus

PubMed Central

2013-01-01

In this review we question the current way of handling tackle a problem of chronic cough, especially by the excessive number of patients who can not find complete relief from your cough by anatomical diagnosis of universal use. From the field of Otolaryngology new perspectives arise now considering the larynx as a preferential afferent stimuli cough reflex arc. Also the constitution laryngopharyngeal reflux gas and new approaches to non-acid reflux and the local action of pepsin in laryngeal deserving of a joint review, which can illuminate new ways to handle the problem of chronic refractory cough. We believe that the chronic cough syndrome hpersensitivity as more precise label for chronic cough, should place particular emphasis on laryngeal sensory neuropathy as cough and reflux the influence that may have on their maintenance, and thereby causes definitely wide related to the syndrome if the larynx is incorporated, place greater number of afferent nerves of chronic cough, which are sure to cover much of the case of refractory cough remain without a satisfactory solution. The close collaboration between Otolaryngology, Gastroenterology and Pneumology in a patient with refractory chronic cough seems now an unavoidable necessity. PMID:23552099

Mobilizing mobile medical units for hurricane relief: the United States Public Health Service and Broward County Health Department response to hurricane Wilma, Broward County, Florida.

PubMed

Taylor, Melanie M; Stokes, William S; Bajuscak, Ronald; Serdula, Mary; Siegel, Karen L; Griffin, Brian; Keiser, Jeffrey; Agate, Lisa; Kite-Powell, Aaron; Roach, David; Humbert, Nancy; Brusuelas, Kristin; Shekar, Sam S

2007-01-01

To describe the outcomes of a collaborative response of federal, state, county, and local agencies in conducting syndromic surveillance and delivering medical care to persons affected by the storm through the use of mobile medical units. Nine mobile medical vans were staffed with medical personnel to deliver care in communities affected by the storm. Individual patient encounter information was collected. A total of 14,033 housing units were approached and checked for occupants. Of residents with whom contact was made, approximately 10 percent required medical assessment in their homes; 3,218 clients were medically evaluated on the mobile medical vans. Sixty-two percent of clients were female. The most common presenting complaints included normal health maintenance (59%), upper respiratory tract illness (10%), and other illness (10%). Injuries occurred in 9 percent. A total of 1,531 doses of medications were dispensed from the mobile medical units during the response. Mobile medical units provided an efficient means to conduct syndromic surveillance and to reach populations in need of medical care who were unable to access fixed local medical facilities.

Infection control and prevention practices implemented to reduce transmission risk of Middle East respiratory syndrome-coronavirus in a tertiary care institution in Saudi Arabia.

PubMed

Butt, Taimur S; Koutlakis-Barron, Irene; AlJumaah, Suliman; AlThawadi, Sahar; AlMofada, Saleh

2016-05-01

Transmission of Middle East respiratory syndrome-coronavirus (MERS-CoV) among health care workers (HCWs) and patients has been documented with mortality rate approximating 36%. We propose advanced infection control measures (A-IC) used in conjunction with basic infection control measures (B-IC) help reduce pathogen transmission. B-IC include standard and transmission-based precautions. A-IC are initiatives implemented within our center to enhance effectiveness of B-IC. Study effectiveness of combining B-IC and A-IC to prevent transmission of MERS-CoV to HCWs. A retrospective observational study was undertaken. A-IC measures include administrative support with daily rounds; infection control risk assessment; timely screening, isolation, and specimen analysis; collaboration; epidemic planning; stockpiling; implementation of contingency plans; full personal protective equipment use for advanced airway management; use of a real-time electronic isolation flagging system; infection prevention and control team on-call protocols; pretransfer MERS-CoV testing; and education. A total of 874 real-time polymerase chain reaction MERS-CoV tests were performed during the period beginning July 1, 2013, and ending January 31, 2015. Six hundred ninety-four non-HCWs were tested, of these 16 tested positive for MERS-CoV and their infection was community acquired. Sixty-nine percent of the confirmed MERS-CoV-positive cases were men, with an average age of 56 years (range, 19-84 years). Of the total tested for MERS-CoV, 180 individuals were HCWs with zero positivity. Adhering to a combination of B-IC and A-IC reduces the risk of MERS-CoV transmission to HCWs. Copyright © 2016 Association for Professionals in Infection Control and Epidemiology, Inc. Published by Elsevier Inc. All rights reserved.

Effectiveness of co-treatment with traditional Chinese medicine and letrozole for polycystic ovary syndrome: a meta-analysis.

PubMed

Ma, Qian-Wen; Tan, Yong

2017-03-01

Polycystic ovary syndrome (PCOS) is an endocrine disease that affects gynecological health. Treatment of PCOS remains a big challenge for clinicians. This meta-analysis was developed to compare the efficacy of co-treatment with traditional Chinese medicine (TCM) and letrozole against letrozole monotherapy in the treatment of PCOS. Randomized controlled trials (RCTs) were electronically retrieved from PubMed, Cochrane Library, China Biomedical Literature Database, China National Knowledge Infrastructure and Wanfang Data; related papers that were not available electronically were manually checked. All papers were assessed according to the Cochrane Handbook for Systematic Reviews of Interventions and the valid data were analyzed using Revman software (The Cochrane Collaboration, Copenhagen, Denmark). We included RCTs that compared co-treatment with TCM and letrozole against letrozole monotherapy in women with PCOS, which was defined by anovulation, biochemical or clinical hyperandrogenemia and polycystic ovaries. We included trials from all sources. Two independent reviewers extracted data, and evaluated study quality according to the Cochrane Handbook for Systematic Reviews of Interventions criteria for RCT, including issues of patient randomization, blinding and bias. Eight RCTs, involving a total of 537 patients, were included in the present study. The meta-analysis showed that the cycle ovulation rate, the pregnancy rate and the total effective rate of symptom treatment were higher in treatments combining TCM with letrozole, compared with letrozole monotherapy. Although the rate of luteinizing hormone (LH)/follicle-stimulating hormone (FSH) and the body mass index of the group receiving combined therapy were lower than in letrozole monotherapy, no statistical difference was found in the LH and FSH level between the two groups. Available evidence showed that co-treatment with TCM and letrozole was more effective than letrozole monotherapy in the treatment of PCOS.

Long and irregular menstrual cycles, polycystic ovary syndrome, and ovarian cancer risk in a population-based case-control study.

PubMed

Harris, H R; Titus, L J; Cramer, D W; Terry, K L

2017-01-15

Long and irregular menstrual cycles, a hallmark of polycystic ovary syndrome (PCOS), have been associated with higher androgen and lower sex hormone binding globulin levels and this altered hormonal environment may increase the risk of specific histologic subtypes of ovarian cancer. We investigated whether menstrual cycle characteristics and self-reported PCOS were associated with ovarian cancer risk among 2,041 women with epithelial ovarian cancer and 2,100 controls in the New England Case-Control Study (1992-2008). Menstrual cycle irregularity, menstrual cycle length, and PCOS were collected through in-person interview. Unconditional logistic regression models were used to calculate odds ratios (OR) and 95% confidence intervals (95% CIs) for ovarian cancer risk overall, and polytomous logistic regression to evaluate whether risk differed between histologic subtypes. Overall, we observed no elevation in ovarian cancer risk for women who reported periods that were never regular or for those reporting a menstrual cycle length of >35 days with ORs of 0.87 (95% CI = 0.69-1.10) and 0.83 (95% CI = 0.44-1.54), respectively. We observed no overall association between self-reported PCOS and ovarian cancer (OR = 0.97; 95% CI = 0.61-1.56). However, we observed significant differences in the association with menstrual cycle irregularity and risk of ovarian cancer subtypes (p heterogeneity  = 0.03) as well as by BMI and OC use (p interaction  < 0.01). Most notable, menstrual cycle irregularity was associated with a decreased risk of high grade serous tumors but an increased risk of serous borderline tumors among women who had never used OCs and those who were overweight. Future research in a large collaborative consortium may help clarify these associations. © 2016 UICC.

Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts.

PubMed

Buchanan, Daniel D; Clendenning, Mark; Rosty, Christophe; Eriksen, Stine V; Walsh, Michael D; Walters, Rhiannon J; Thibodeau, Stephen N; Stewart, Jenna; Preston, Susan; Win, Aung Ko; Flander, Louisa; Ouakrim, Driss Ait; Macrae, Finlay A; Boussioutas, Alex; Winship, Ingrid M; Giles, Graham G; Hopper, John L; Southey, Melissa C; English, Dallas; Jenkins, Mark A

2017-02-01

Tumor testing of colorectal cancers (CRC) for mismatch repair (MMR) deficiency is an effective approach to identify carriers of germline MMR gene mutation (Lynch syndrome). The aim of this study was to identify MMR gene mutation carriers in two cohorts of population-based CRC utilizing a combination of tumor and germline testing approaches. Colorectal cancers from 813 patients diagnosed with CRC < 60 years of age from the Australasian Colorectal Cancer Family Registry (ACCFR) and from 826 patients from the Melbourne Collaborative Cohort Study (MCCS) were tested for MMR protein expression using immunohistochemistry, microsatellite instability (MSI), BRAF V600E somatic mutation, and for MLH1 methylation. MMR gene mutation testing (Sanger sequencing and Multiplex Ligation Dependent Probe Amplification) was performed on germline DNA of patients with MMR-deficient tumors and a subset of MMR-proficient CRCs. Of the 813 ACCFR probands, 90 probands demonstrated tumor MMR deficiency (11.1%), and 42 had a MMR gene germline mutation (5.2%). For the MCCS, MMR deficiency was identified in the tumors of 103 probands (12.5%) and seven had a germline mutation (0.8%). All the mutation carriers were diagnosed prior to 70 years of age. Probands with a MMR-deficient CRC without MLH1 methylation and a gene mutation were considered Lynch-like and comprised 41.1% and 25.2% of the MMR-deficient CRCs for the ACCFR and MCCS, respectively. Identification of MMR gene mutation carriers in Australian CRC-affected patients is optimized by immunohistochemistry screening of CRC diagnosed before 70 years of age. A significant proportion of MMR-deficient CRCs will have unknown etiology (Lynch-like) proving problematic for clinical management. © 2016 Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.

Tumour testing to identify Lynch syndrome in two Australian colorectal cancer cohorts

PubMed Central

Eriksen, Stine V.; Walsh, Michael D.; Walters, Rhiannon J.; Thibodeau, Stephen N.; Stewart, Jenna; Preston, Susan; Win, Aung Ko; Flander, Louisa; Ouakrim, Driss Ait; Macrae, Finlay A.; Boussioutas, Alex; Winship, Ingrid M.; Giles, Graham G.; Hopper, John L.; Southey, Melissa C.

2016-01-01

Background and Aim Tumour testing of colorectal cancers (CRC) for mismatch repair (MMR) deficiency is an effective approach to identify carriers of germline MMR gene mutation (Lynch syndrome). The aim of this study was to identify MMR gene mutation carriers in two cohorts of population-based CRC utilising a combination of tumour and germline testing approaches. Methods CRCs from 813 patients diagnosed with CRC <60 years of age from the Australasian Colorectal Cancer Family Registry (ACCFR) and from 826 patients from the Melbourne Collaborative Cohort Study (MCCS) were tested for MMR protein expression using immunohistochemistry (IHC), microsatellite instability (MSI), BRAFV600E somatic mutation and for MLH1 methylation. MMR gene mutation testing (Sanger sequencing and MLPA) was performed on germline DNA of patients with MMR-deficient tumours and a subset of MMR-proficient CRCs. Results Of the 813 ACCFR probands, 90 probands demonstrated tumour MMR-deficiency (11.1%) and 42 had a MMR gene germline mutation (5.2%). For the MCCS, MMR-deficiency was identified in the tumours of 103 probands (12.5%) and 7 had a germline mutation (0.8%). All the mutation carriers were diagnosed prior to 70 years of age. Probands with a MMR-deficient CRC without MLH1 methylation and a gene mutation were considered Lynch-like and comprised 41.1% and 22.3% of the MMR-deficient CRCs for the ACCFR and MCCS, respectively. Conclusions Identification of MMR gene mutation carriers in Australian CRC-affected patients is optimised by IHC screening of CRC diagnosed before 70 years. A significant proportion of MMR-deficient CRCs will have unknown aetiology (Lynch-like) proving problematic for clinical management. PMID:27273229

Who needs collaborative care treatment? A qualitative study exploring attitudes towards and experiences with mental healthcare among general practitioners and care managers.

PubMed

Møller, Marlene Christina Rosengaard; Mygind, Anna; Bro, Flemming

2018-05-30

Collaborative care treatment is widely recognized as an effective approach to improve the quality of mental healthcare through enhanced and structured collaboration between general practice and specialized psychiatry. However, studies indicate that the complexity of collaborative care treatment interventions challenge the implementation in real-life general practice settings. Four Danish Collaborative Care Models were launched in 2014 for patients with mild/moderate anxiety and depression. These involved collaboration between general practitioners, care managers and consultant psychiatrists. Taking a multi-practice bottom-up approach, this paper aims to explore the perceived barriers and enablers related to collaborative care for patients with mental health problems and to investigate the actual experiences with a Danish collaborative care model in a single-case study in order to identify enablers and barriers for successful implementation. Combining interviews and observations of usual treatment practices, we conducted a multi-practice study among general practitioners who were not involved in the Danish collaborative care models to explore their perspectives on existing mental health treatment and to investigate (from a bottom-up approach) their perceptions of and need for collaborative care in mental health treatment. Additionally, by combining observations and qualitative interviews, we followed the implementation of a Danish collaborative care model in a single-case study to convey identified barriers and enablers of the collaborative care model. Experienced and perceived enablers of the Danish collaborative care model mainly consisted of a need for new treatment options to deal with mild/moderate anxiety and depression. The model was considered to meet the need for a free fast track to high-quality treatment. Experienced barriers included: poor adaptation of the model to the working conditions and needs in daily general practice, time consumption, unsustainable logistical set-up and unclear care manager role. General practitioners in the multi-practice study considered access to treatment and not collaboration with specialised psychiatry to be essential for this group of patients. The study calls for increased attention to implementation processes and better adaptation of collaborative care models to the clinical reality of general practice. Future interventions should address the treatment needs of specific patient populations and should involve relevant stakeholders in the design and implementation processes.

Are They Thinking Differently: A Cross-Cultural Study on the Relationship of Thinking Styles and Emerging Roles in Computer-Supported Collaborative Learning

ERIC Educational Resources Information Center

Gu, Xiaoqing; Wang, Huawen; Mason, Jon

2017-01-01

Numerous studies have recognized collaboration as an effective way of learning. When collaboration involves students from different cultural backgrounds, a question arises: "Will cultural differences influence the manner in which roles are adopted within collaborative learning?" In this study, a correlation analysis was used to explore…

The Meaning of Collaboration, from the Perspective of Iranian Nurses: A Qualitative Study

PubMed Central

Zamanzadeh, V.; Irajpour, A.; Valizadeh, L.; Shohani, M.

2014-01-01

Background. Interdisciplinary collaboration among nurses is a complex and multifaceted process, an essential element in nursing, which is crucial to maintain an efficient, safe, and viable medical setting. The aim of this study was to explore the meaning of concept of collaboration through conducting a qualitative research approach. Method. The present study is qualitatively conducted in a content analysis approach. The data collection process included 18 unstructured and in-depth interviews with nurses during 2012-2013 in educational medical centers of west and northwest of Iran. A purposive sampling method was used. All the interviews were recorded, transcribed, and finally analyzed using a qualitative content analysis with a conventional method. Result. Categories obtained from analysis of the data to explain the meaning of collaboration consist of (i) prerequisites of collaboration, (ii) actualization of collaboration, and (iii) achievement of a common goal. Conclusion. The results of the present study ended in the discovery of meaning of collaboration that confirm results of other related studies, hence clarifying and disambiguating the concept under study. These results also contribute to the development of collaboration theories and the relevant measurement tools. PMID:25587572

Research Collaboration across Higher Education Systems: Maturity, Language Use, and Regional Differences

ERIC Educational Resources Information Center

Shin, Jung Cheol; Lee, Soo Jeung; Kim, Yangson

2013-01-01

This study analyzed whether research collaboration patterns differ across higher education systems based on maturity of the systems, their language, and their geographical region. This study found that collaboration patterns differ across higher education systems: academics in developed systems are more collaborative than their colleagues in…

Interaction Forms in Successful Collaborative Learning in Virtual Learning Environments

ERIC Educational Resources Information Center

Vuopala, Essi; Hyvönen, Pirkko; Järvelä, Sanna

2016-01-01

Despite the numerous studies on social interaction in collaborative learning, little is known about interaction forms in successful computer-supported collaborative learning situations. The purpose of this study was to explore and understand student interaction in successful collaborative learning during a university course which was mediated by…

Assessing Learners' Perceived Readiness for Computer-Supported Collaborative Learning (CSCL): A Study on Initial Development and Validation

ERIC Educational Resources Information Center

Xiong, Yao; So, Hyo-Jeong; Toh, Yancy

2015-01-01

The main purpose of this study was to develop an instrument that assesses university students' perceived readiness for computer-supported collaborative learning (CSCL). Assessment in CSCL research had predominantly focused on measuring "after-collaboration" outcomes and "during-collaboration" behaviors while…

A Delphi Study on Collaborative Learning in Distance Education: The Faculty Perspective

ERIC Educational Resources Information Center

O'Neill, Susan; Scott, Murray; Conboy, Kieran

2011-01-01

This paper focuses on the factors that influence collaborative learning in distance education. Distance education has been around for many years and the use of collaborative learning techniques in distance education is becoming increasingly popular. Several studies have demonstrated the superiority of collaborative learning over traditional modes…

The Therapeutic Collaboration in Life Design Counselling: The Case of Ryan

ERIC Educational Resources Information Center

do Céu Taveira, Maria; Ribeiro, Eugénia; Cardoso, Paulo; Silva, Filipa

2017-01-01

This study examined the therapeutic collaboration in a case of Life Design Counseling (LDC) with narrative change and positive career outcomes. The therapeutic collaboration-change model and correspondent coding system were used to intensively study the helping relationship throughout three sessions of LDC. The collaboration coding system enables…

Patterns of Change in Collaboration Are Associated with Baseline Characteristics and Predict Outcome and Dropout Rates in Treatment of Multi-Problem Families. A Validation Study

PubMed Central

Bachler, Egon; Fruehmann, Alexander; Bachler, Herbert; Aas, Benjamin; Nickel, Marius; Schiepek, Guenter K.

2017-01-01

Objective: The present study validates the Multi-Problem Family (MPF)-Collaboration Scale), which measures the progress of goal directed collaboration of patients in the treatment of families with MPF and its relation to drop-out rates and treatment outcome. Method: Naturalistic study of symptom and competence-related changes in children of ages 4–18 and their caregivers. Setting: Integrative, structural outreach family therapy. Measures: The data of five different groups of goal directed collaboration (deteriorating collaboration, stable low collaboration, stable medium collaboration, stable high collaboration, improving collaboration) were analyzed in their relation to treatment expectation, individual therapeutic goals (ITG), family adversity index, severity of problems and global assessment of a caregiver’s functioning, child, and relational aspects. Results: From N = 810 families, 20% displayed stable high collaboration (n = 162) and 21% had a pattern of improving collaboration. The families with stable high or improving collaboration rates achieved significantly more progress throughout therapy in terms of treatment outcome expectancy (d = 0.96; r = 0.43), reaching ITG (d = 1.17; r = 0.50), family adversities (d = 0.55; r = 0.26), and severity of psychiatric symptoms (d = 0.31; r = 0.15). Furthermore, families with stable high or improving collaboration maintained longer treatments and had a bigger chance of finishing the therapy as planned. The odds of having a stable low or deteriorating collaboration throughout treatment were significantly higher for subjects who started treatment with low treatment expectation or high family-related adversities. Conclusion: The positive outcomes of homebased interventions for multi-problem families are closely related to “stable high” and an “improving” collaboration as measured with the MPF-Collaboration Scale. Patients who fall into these groups have a high treatment outcome expectancy and reduce psychological stress. For therapeutic interventions with multi-problem families it seems beneficial to maintain a stable high collaboration or help the collaboration, e.g., by fostering treatment expectation. PMID:28785232

Association of sleep quality components and wake time with metabolic syndrome: The Qazvin Metabolic Diseases Study (QMDS), Iran.

PubMed

Zohal, Mohammadali; Ghorbani, Azam; Esmailzadehha, Neda; Ziaee, Amir; Mohammadi, Zahrasadat

2017-11-01

The aim of this study was to determine the association of sleep quality and sleep quantity with metabolic syndrome in Qazvin, Iran. this cross sectional study was conducted in 1079 residents of Qazvin selected by multistage cluster random sampling method in 2011. Metabolic syndrome was defined according to the criteria proposed by the national cholesterol education program third Adult treatment panel. Sleep was assessed using the Pittsburgh sleep quality index (PSQI). A logistic regression analysis was used to examine the association of sleep status and metabolic syndrome. Mean age was 40.08±10.33years. Of 1079, 578 (52.2%) were female, and 30.6% had metabolic syndrome. The total global PSQI score in the subjects with metabolic syndrome was significantly higher than subjects without metabolic syndrome (6.30±3.20 vs. 5.83±2.76, P=0.013). In logistic regression analysis, sleep disturbances was associated with 1.388 fold increased risk of metabolic syndrome after adjustment for age, gender, and body mass index. Sleep disturbances component was a predictor of metabolic syndrome in the present study. More longitudinal studies are necessary to understand the association of sleep quality and its components with metabolic syndrome. Copyright © 2017 Diabetes India. Published by Elsevier Ltd. All rights reserved.

Dysmobility syndrome: current perspectives.

PubMed

Hill, Keith D; Farrier, Kaela; Russell, Melissa; Burton, Elissa

2017-01-01

A new term, dysmobility syndrome, has recently been described as a new approach to identify older people at risk of poor health outcomes. The aim was to undertake a systematic review of the existing research literature on dysmobility syndrome. All articles reporting dysmobility syndrome were identified in a systematic review of Medline (Proquest), CINAHL, PubMed, PsycInfo, EMBASE, and Scopus databases. Key characteristics of identified studies were extracted and summarized. The systematic review identified five papers (three cross-sectional, one case control, and one longitudinal study). No intervention studies were identified. Prevalence of dysmobility syndrome varied between studies (22%-34% in three of the studies). Dysmobility syndrome was shown to be associated with reduced function, increased falls and fractures, and a longitudinal study showed its significant association with mortality. Early research on dysmobility syndrome indicates that it may be a useful classification approach to identify older people at risk of adverse health outcomes and to target for early interventions. Future research needs to standardize the optimal mix of measures and cut points, and investigate whether balance performance may be a more useful factor than history of falls for dysmobility syndrome.

A case study of collaboration in science education: Integrating informal learning experiences into the school curriculum

NASA Astrophysics Data System (ADS)

Robertson, Amy Michelle

This is a study of a collaboration between multiple stakeholders in science education for the purpose of creating educational field trip experiences. The collaboration involves four major facets of science education: formal education at the elementary and university levels, informal education, and educational research. The primary participants in the collaboration include two elementary school teachers, a scientist from a local university, an informal educator from an environmental education site, and the researcher acting as a participant observer. The coming together of these different sides of science education provided a unique opportunity to explore the issues and experiences that emerged as such a partnership was formed and developed. Strongly influenced by action research, this study is a qualitative case study. The data was collected by means of observation, semi-structured interviews, and written document review, in order to provide both a descriptive and an interpretive account of this collaboration. The final analysis integrates a description of the participants' experiences as evidenced in the data with the issues that arose from these experiences. The evolution of the collaborators' roles was examined, as was the development of shared vision. In this study, there were several factors that significantly affected the progress towards a shared vision and a successful collaboration. These factors include time, communication, understanding others' perspectives, dedication and ownership, as well as the collaborative environment. Each collaborator benefited both professionally and personally from their participation in the collaboration. In addition, the students gained cognitively, affectively, and socially from the educational experiences created through the collaboration. Steps, such as working towards communication and understanding others' perspectives, should continue to be taken to ensure the collaboration continues beyond the term of the current key participants.

Genetic predisposition increases the tic severity, rate of comorbidities, and psychosocial and educational difficulties in children with Tourette syndrome.

PubMed

Eysturoy, Absalon Niclas; Skov, Liselotte; Debes, Nanette Mol

2015-03-01

This study aimed to examine whether there are differences in tic severity, comorbidities, and psychosocial and educational consequences in children with Tourette syndrome and genetic predisposition to Tourette syndrome compared with children with Tourette syndrome without genetic predisposition to Tourette syndrome. A total of 314 children diagnosed with Tourette syndrome participated in this study. Validated diagnostic tools were used to assess tic severity, comorbidities, and cognitive performance. A structured interview was used to evaluate psychosocial and educational consequences related to Tourette syndrome. The children with Tourette syndrome and genetic predisposition present with statistically significant differences in terms of severity of tics, comorbidities, and a range of psychosocial and educational factors compared with the children with Tourette syndrome without genetic predisposition. Professionals need to be aware of genetic predisposition to Tourette syndrome, as children with Tourette syndrome and genetic predisposition have more severe symptoms than those children with Tourette syndrome who are without genetic predisposition. © The Author(s) 2014.

Mathematics Learning Disability in Girls with Turner Syndrome or Fragile X Syndrome

ERIC Educational Resources Information Center

Murphy, Melissa M.; Mazzocco, Michele M. M.; Gerner, Gwendolyn; Henry, Anne E.

2006-01-01

Two studies were carried out to examine the persistence (Study 1) and characteristics (Study 2) of mathematics learning disability (MLD) in girls with Turner syndrome or fragile X during the primary school years (ages 5-9 years). In Study 1, the rate of MLD for each syndrome group exceeded the rate observed in a grade-matched comparison group,…

Understanding collaboration in a multi-national research capacity-building partnership: a qualitative study.

PubMed

Varshney, Dinansha; Atkins, Salla; Das, Arindam; Diwan, Vishal

2016-08-18

Research capacity building and its impact on policy and international research partnership is increasingly seen as important. High income and low- and middle-income countries frequently engage in research collaborations. These can have a positive impact on research capacity building, provided such partnerships are long-term collaborations with a unified aim, but they can also have challenges. What are these challenges, which often result in a short term/ non viable collaboration? Does such collaboration results in capacity building? What are the requirements to make any collaboration sustainable? This study aimed to answer these and other research questions through examining an international collaboration in one multi-country research capacity building project ARCADE RSDH (Asian Regional Capacity Development for Research on Social Determinants of Health). A qualitative study was conducted that focused on the reasons for the collaboration, collaboration patterns involved, processes of exchanging information, barriers faced and perceived growth in research capacity. In-depth interviews were conducted with the principal investigators (n = 12), research assistants (n = 2) and a scientific coordinator (n = 1) of the collaborating institutes. Data were analysed using thematic framework analysis. The initial contact between institutes was through previous collaborations. The collaboration was affected by the organisational structure of the partner institutes, political influences and the collaboration design. Communication was usually conducted online, which was affected by differences in time and language and inefficient infrastructure. Limited funding resulted in restricted engagement by some partners. This study explored work in a large, North-South collaboration project focusing on building research capacity in partner institutes. The project helped strengthen research capacity, though differences in organization types, existing research capacity, culture, time, and language acted as obstacles to the success of the project. Managing these differences requires preplanned strategies to develop functional communication channels among the partners, maintaining transparency, and sharing the rewards and benefits at all stages of collaboration.

Brief Report: Repetitive Behaviour Profiles in Williams Syndrome: Cross Syndrome Comparisons with Prader-Willi and Down Syndromes

ERIC Educational Resources Information Center

Royston, R.; Oliver, C.; Moss, J.; Adams, D.; Berg, K.; Burbidge, C.; Howlin, P.; Nelson, L.; Stinton, C.; Waite, J.

2018-01-01

This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were…

Velo-Cardio-Facial Syndrome: 30 Years of Study

ERIC Educational Resources Information Center

Shprintzen, Robert J.

2008-01-01

Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 deletion syndrome, conotruncal anomalies face syndrome, CATCH 22, and Sedlackova syndrome have all been attached to the same disorder. Velo-cardio-facial syndrome has an…

A Comparative Study of Educational Provision for Children with Neurogenetic Syndromes: Parent and Teacher Survey

ERIC Educational Resources Information Center

Reilly, C.; Senior, J.; Murtagh, L.

2015-01-01

Background: A number of neurogenetic syndromes have a high association with special educational needs including fragile X syndrome (FXS), Prader-Willi syndrome (PWS), Williams syndrome (WS) and Velo-Cardio-Facial syndrome (VCFS). There is a paucity of research on educational provision for children affected by these syndromes. Method: Parents…

World scientific collaboration in coronary heart disease research.

PubMed

Yu, Qi; Shao, Hongfang; He, Peifeng; Duan, Zhiguang

2013-08-10

Coronary heart disease (CHD) will continue to exert a heavy burden for countries all over the world. Scientific collaboration has become the only choice for progress in biomedicine. Unfortunately, there is a scarcity of scientific publications about scientific collaboration in CHD research. This study examines collaboration behaviors across multiple collaboration types in the CHD research. 294,756 records about CHD were retrieved from Web of Science. Methods such as co-authorship, social network analysis, connected component, cliques, and betweenness centrality were used in this study. Collaborations have increased at the author, institution and country/region levels in CHD research over the past three decades. 3000 most collaborative authors, 572 most collaborative institutions and 52 countries/regions are extracted from their corresponding collaboration network. 766 cliques are found in the most collaborative authors. 308 cliques are found in the most collaborative institutions. Western countries/regions represent the core of the world's collaboration. The United States ranks first in terms of number of multi-national publications, while Hungary leads in the ranking measured by their proportion of collaborative output. The rate of economic development in the countries/regions also affects the multi-national collaboration behavior. Collaborations among countries/regions need to be encouraged in the CHD research. The visualization of overlapping cliques in the most collaborative authors and institutions are considered "skeleton" of the collaboration network. Eastern countries/regions should strengthen cooperation with western countries/regions in the CHD research. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

An analysis of national collaboration with Spanish researchers abroad in the health sciences.

PubMed

Aceituno-Aceituno, Pedro; Romero-Martínez, Sonia Janeth; Victor-Ponce, Patricia; García-Núñez, José

2015-11-07

The establishment of scientific collaborations with researchers abroad can be considered a good practice to make appropriate use of their knowledge and to increase the possibilities of them returning to their country. This paper analyses the collaboration between Spanish researchers abroad devoted to health sciences and national science institutions. We used the Fontes' approach to perform a study on this collaboration with Spanish researchers abroad. We measured the level of national and international cooperation, the opportunity provided by the host country to collaborate, the promotion of collaboration by national science institutions, and the types of collaboration. A total of 88 biomedical researchers out of the 268 Spanish scientists who filled up the survey participated in the study. Different data analyses were performed to study the variables selected to measure the scientific collaboration and profile of Spanish researchers abroad. There is a high level of cooperation between Spanish health science researchers abroad and international institutions, which contrasts with the small-scale collaboration with national institutions. Host countries facilitate this collaboration with national and international scientific institutions to a larger extent than the level of collaboration promotion carried out by Spanish institutions. The national collaboration with Spanish researchers abroad in the health sciences is limited. Thus, the practice of making appropriate use of the potential of their expertise should be promoted and the opportunities for Spanish health science researchers to return home should be improved.

Perceived Benefits of Collaboration Between Local Health Departments and Schools and Programs of Public Health: A Mixed-Methods Study.

PubMed

Kovach, Kevin A; Welter, Christina R; Seweryn, Steven M; Torres, Griselle

2018-06-20

Collaboration between local health departments (LHDs) and schools and programs of public health (SPPH) may be a way to improve practice, education, and research. However, little is known about why LHDs and SPPH collaborate. This mixed-methods study addressed this issue by exploring what LHDs and SPPH perceive to be beneficial about their collaboration. A mixed-methods study using quantitative and qualitative data was conducted. A survey of 2000 LHDs that completed the 2013 National Profile of LHDs measured how important and effective LHDs perceived 30 indicators of the 10 essential public health services to be for collaboration with SPPH. Focus groups were held with LHD officials and the faculty from SPPH to further explore their perceptions of the mutual benefits of their collaboration. This study showed that LHD officials and the faculty from SPPH valued their collaborative work because it can improve education and training, support public health accreditation, enhance LHD credibility, enhance LHD technological capabilities, and improve research and evidence-based practice. Benefits increased with an increase in the degree of collaboration. This also showed that LHD officials would like to collaborate more closely with SPPH. Collaboration between LHDs and SPPH is mutually beneficial, and close collaboration can help transform public health practice, education, and research. In light of this, more attention should be paid to developing goals and objectives for a collaborative agenda. Attention should be paid not only to the immediate needs of the organizations and individuals involved but also to their long-term goals and underlying desires. Funding opportunities to support the development of partnerships between LHDs and SPPH are needed to provide tangible tasks and opportunities for taking a more long-term and strategic view for collaborative relationships.

How Are Ocular Signs and Symptoms of Dry Eye Associated With Depression in Women With and Without Sjögren Syndrome?

PubMed

Gonzales, John A; Chou, Annie; Rose-Nussbaumer, Jennifer R; Bunya, Vatinee Y; Criswell, Lindsey A; Shiboski, Caroline H; Lietman, Thomas M

2018-07-01

To determine whether ocular phenotypic features of keratoconjunctivitis sicca (KCS) and/or participant-reported symptoms of dry eye disease are associated with depression in women participants enrolled in the Sjögren's International Collaborative Clinical Alliance (SICCA). Cross-sectional study. Women enrolled in the SICCA registry from 9 international research sites. Participants met at least 1 of 5 inclusion criteria for registry enrollment (including complaints of dry eyes or dry mouth, a previous diagnosis of Sjögren syndrome (SS), abnormal serology (positive anti-Sjögren syndrome antigen A and/or B [anti-SSA and/or anti-SSB]), or elevated antinuclear antibody and rheumatoid factor), bilateral parotid gland enlargement, or multiple dental caries). At baseline, participants had oral, ocular, and rheumatologic examination; blood and saliva collection; and a labial salivary gland biopsy (LSGB). They also completed an interview and questionnaires including assessment of depression with the Patient Health Questionnaire 9 (PHQ-9). Univariate logistic regression was used to assess the association between depression and demographic characteristics, participant-reported health, phenotypic features of Sjögren syndrome, and participant-reported symptoms. Mixed-effects modeling was performed to determine if phenotypic features of KCS and/or participant-reported symptoms of dry eye disease were associated with depression, controlling for health, age, country or residence, and sex and allowing for nonindependence within geographic site. Dry eye complaints produced a 1.82-fold (95% confidence interval [CI] 1.38-2.40) higher odds of having depression compared to being symptom-free (P < .001). Additionally, complaints of specific ocular sensations were associated with a higher odds of depression including burning sensation (odds ratio 2.25, 95% CI 1.87-2.72, P < .001) compared to those without complaints. In both women with and without SS, the presence of symptoms of dry eyes and/or dry mouth rather than SS itself resulted in higher odds of depression. One particular ocular phenotypic feature of SS, a positive ocular staining score, was inversely correlated with depression. Participant-reported eye symptoms, particularly specific ocular sensations such as burning, were found to be positively associated with individual American College of Rheumatology/EUropean League Against Rheumatism (ACR/EULAR) SS criteria items. Copyright © 2018 Elsevier Inc. All rights reserved.

Collaborative research: Accomplishments & potential

PubMed Central

Katsouyanni, Klea

2008-01-01

Although a substantial part of scientific research is collaborative and increasing globalization will probably lead to its increase, very few studies actually investigate the advantages, disadvantages, experiences and lessons learned from collaboration. In environmental epidemiology interdisciplinary collaboration is essential and the contrasting geographical patterns in exposure and disease make multi-location projects essential. This paper is based on a presentation given at the Annual Conference of the International Society for Environmental Epidemiology, Paris 2006, and is attempting to initiate a discussion on a framework for studying collaborative research. A review of the relevant literature showed that indeed collaborative research is rising, in some countries with impressive rates. However, there are substantial differences between countries in their outlook, need and respect for collaboration. In many situations collaborative publications receive more citations than those based on national authorship. The European Union is the most important host of collaborative research, mainly driven by the European Commission through the Framework Programmes. A critical assessment of the tools and trends of collaborative networks under FP6, showed that there was a need for a critical revision, which led to changes in FP7. In conclusion, it is useful to study the characteristics of collaborative research and set targets for the future. The added value for science and for the researchers involved may be assessed. The motivation for collaboration could be increased in the more developed countries. Particular ways to increase the efficiency and interaction in interdisciplinary and intercultural collaboration may be developed. We can work towards "the principles of collaborative research" in Environmental Epidemiology. PMID:18208596

Is a unified definition of metabolic syndrome needed? Comparison of three definitions of metabolic syndrome in 60-year-old men and women.

PubMed

Carlsson, Axel C; Wändell, Per E; Halldin, Mats; de Faire, Ulf; Hellénius, Mai-Lis

2009-06-01

There are three commonly used definitions of the metabolic syndrome, making scientific studies hard to compare. The aim of this study was to investigate agreement in the prevalence of the metabolic syndrome defined by three different definitions and to analyze definition and gender differences. A population-based, cross-sectional study of a total of 4232 participants--2039 men and 2193 women, aged 60 years--was employed. Three different metabolic syndrome definitions were compared: European Group for the Study of Insulin Resistance (EGIR), International Diabetes Federation (IDF), and National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III). Medical history, socioeconomic information, and lifestyle data were collected by a questionnaire. A medical examination including laboratory tests was performed. Significant factors for the metabolic syndrome were calculated by multivariate logistic regression. Forty five percent of men and 30% of women met the criteria for the metabolic syndrome by any definition, but only 17% of men and 9% of women met the criteria of all three definitions. The highest agreement was found between IDF and NCEP ATP III definition. Two significant associations were identified in both men and women by the three metabolic syndrome definitions; former smokers were highly associated with the metabolic syndrome (odds ratio [OR] congruent with 1.5), and regular physical activity (OR congruent with 0.6) was inversely associated with the metabolic syndrome. Depending on the definition used, different individuals were identified as having the metabolic syndrome, which affects the reliability of interpretations to be made from scientific studies of the metabolic syndrome. Unified criteria are warranted. Physicians facing a physically inactive former smoker may consider diagnosing metabolic syndrome.

Birth characteristics of women with Marfan syndrome, obstetric and neonatal outcomes of their pregnancies-A nationwide cohort and case-control study.

PubMed

Kernell, Kristina; Sydsjö, Gunilla; Bladh, Marie; Josefsson, Ann

2017-08-01

The aim was to investigate birth characteristics, obstetric and neonatal outcomes of the first childbirth in women with Marfan syndrome by use of Swedish national registers since pregnancy-related outcomes in women with Marfan syndrome have only been sparsely investigated. In this national population-based cohort study and matched case-control study of Swedish women born 1973-1993, women with Marfan syndrome (n=273) were compared to women without the condition (n=1 017 265). The study population was followed until 2013. A total of 364 553 mother-firstborn-offspring pairs were analyzed. Sixty-one women with Marfan syndrome became mothers. Women with Marfan syndrome were also compared to 543 healthy controls. Women with Marfan syndrome were more often born preterm (p<0.001), small-for-gestational age (p<0.001), and delivered by cesarean section (p=0.001). Women with Marfan syndrome had no increased risk of giving birth by cesarean section (p=0.079). No increased neonatal risks in their children were found. Women with Marfan syndrome were less likely to give birth than those without (p<0.001). There were no maternal deaths. Women with Marfan syndrome were more likely to be born preterm, SGA and by cesarean section. These increased risks of preterm birth and SGA babies were not found in connection with their own first childbirth. Pregnancies with known fetal Marfan syndrome have to be carefully monitored. The results are important for obstetricians giving preconception counseling and treating women with Marfan syndrome. Further studies are needed to evaluate risks during pregnancy and long-term effects of pregnancy on the cardiovascular status of women with Marfan syndrome. Copyright © 2017 Elsevier B.V. All rights reserved.

Students' Engagement in Collaborative Knowledge Construction in Group Assignments for Information Literacy

ERIC Educational Resources Information Center

Sormunen, Eero; Tanni, Mikko; Heinström, Jannica

2013-01-01

Introduction: Information literacy instruction is often undertaken in schools as collaborative source-based writing assignments. his paper presents the findings of a study on collaboration in two school assignments designed for information literacy. Method: The study draws on the models of cooperative and collaborative learning and the task-based…

Using a Wiki to Collaborate on a Study Guide

ERIC Educational Resources Information Center

Lending, Diane

2010-01-01

This paper introduces an end-of-semester assignment to create a study guide for the final exam. This assignment helps with two objectives of an introductory Management Information Systems course: collaboration and using Web 2.0 technologies. We argue that to truly understand collaboration, students must learn more than what collaboration is, they…

Collaboration, Intragroup Conflict, and Social Skills in Project-Based Learning

ERIC Educational Resources Information Center

Lee, Dabae; Huh, Yeol; Reigeluth, Charles M.

2015-01-01

This case study was conducted in two high school classrooms that utilized collaborative project-based learning (PBL). Collaboration is an important instructional strategy, especially used in conjunction with PBL, and is an essential learning outcome for the twenty-first century. This study examined how collaboration can be achieved as a learning…

Benefits of Collaborative Writing for ESL Advanced Diploma Students in the Production of Reports

ERIC Educational Resources Information Center

Fong, Lin Siew

2012-01-01

This study analyzes the collaborative writing sessions of two groups of advanced diploma economics students with mixed proficiency. Although studies in collaborative writing usually highlight the mixed results of students' collaboration ranging from promoting peer learning to having unresolved conflict, the findings of this paper only provide the…

Design and Evaluation of a Collaborative Learning Environment

ERIC Educational Resources Information Center

Wang, Qiyun

2009-01-01

Collaboration becomes an essential competency in the current knowledge society. In this study, a collaborative learning environment was designed to facilitate students in group collaboration. Instructional support strategies of friendship and meaningful learning tasks were applied to promote collaboration. Scaffolding strategies such as writing…

Math Learning Disability and Math LD Subtypes: Evidence from Studies of Turner Syndrome, Fragile X Syndrome, and Neurofibromatosis Type 1.

ERIC Educational Resources Information Center

Mazzocco, Michele M. M.

2001-01-01

This study examined whether indicators of math learning disability were observed in 35 5- and 6-year-olds with either neurofibromatosis, Turner Syndrome, or fragile X syndrome and compared to controls. Findings indicate that girls with fragile X or Turner syndrome but not neurofibromatosis are significantly more likely to have specific math…

Maya phytomedicine in Guatemala - Can cooperative research change ethnopharmacological paradigms?

PubMed

Hitziger, Martin; Heinrich, Michael; Edwards, Peter; Pöll, Elfriede; Lopez, Marissa; Krütli, Pius

2016-06-20

This paper presents one of the first large-scale collaborative research projects in ethnopharmacology, to bring together indigenous stakeholders and scientists both in project design and execution. This approach has often been recommended but rarely put into practice. The study was carried out in two key indigenous areas of Guatemala, for which very little ethnopharmacological fieldwork has been published. To document and characterize the ethno-pharmacopoeias of the Kaqchikel (highlands) and Q'eqchi' (lowlands) Maya in a transdisciplinary collaboration with the two groups Councils of Elders. The project is embedded in a larger collaboration with five Councils of Elders representing important indigenous groups in Guatemala, two of which participated in this study. These suggested healing experts reputed for their phytotherapeutic knowledge and skills. Ethnobotanical fieldwork was carried out over 20 months, accompanied by a joint steering process and validation workshops. The field data were complemented by literature research and were aggregated using a modified version of the International Classification of Diseases (ICD-10) and Trotter & Logan's consensus index. Similar numbers of species were collected in the two areas, with a combined total of 530 species. This total does not represent all of the species used for medicinal purposes. Remedies for the digestive system, the central nervous system & behavioral syndromes, and general tissue problems & infections were most frequent in both areas. Furthermore, remedies for the blood, immune & endocrine system are frequent in the Kaqchikel area, and remedies for the reproductive system are frequent in the Q'eqchi' area. Consensus factors are however low. The Kaqchikel, in contrast to the Q'eqchi', report more remedies for non-communicable illnesses. They also rely heavily on introduced species. The transdisciplinary research design facilitated scientifically rigorous and societally relevant large-scale fieldwork, which is clearly beneficial to indigenous collaborators. It provided access and built trust as prerequisites for assembling the largest comparative ethnopharmacological collection, vastly extending knowledge on Maya phytotherapy. The collection represents knowledge of the two groups' most reputed herbalists and is a representative selection of the Guatemalan medicinal flora. ICD-10 proved useful for making broad comparisons between the groups, but more refined approaches would be necessary for other research objectives. Knowledge in the two areas is highly diverse and seems fragmented. New approaches are required to assess how coherent Maya phytotherapy is. The documented 'traditional' ethno-pharmacopoeias demonstrate dynamic change and acculturation, reflecting the two linguistic groups' sociocultural history and context. This highlights the adaptive potential of phyto-therapeutic knowledge and calls the equation of local indigenous pharmacopoeias with 'traditional' medicine into question. We suggest using the term 'local' pharmacopoeias, and reserving the term 'traditional' for the study of indigenous pharmacopoeias with a clear delineation of ancient knowledge. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Psychological Well-Being in Parents of Children with Angelman, Cornelia de Lange and Cri du Chat Syndromes

ERIC Educational Resources Information Center

Griffith, G. M.; Hastings, R. P.; Oliver, C.; Howlin, P.; Moss, J.; Petty, J.; Tunnicliffe, P.

2011-01-01

Background: The current study focuses on mothers and fathers of children with three rare genetic syndromes that are relatively unexplored in terms of family experience: Angelman syndrome, Cornelia de Lange syndrome and Cri du Chat syndrome. Method: Parents of children with Angelman syndrome (n = 15), Cornelia de Lange syndrome (n = 16) and Cri du…

The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

PubMed

Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

2015-06-01

The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. © 2015 Wiley Periodicals, Inc.

Investigation of Demodex folliculorum frequency in patients with polycystic ovary syndrome.

PubMed

Eser, Ayla; Erpolat, Seval; Kaygusuz, Ikbal; Balci, Hatice; Kosus, Aydin

2017-01-01

Background: Demodex mites are acari that reside in the pilosebaceous unit of the skin and have been associated with skin disorders. The objective of this study was to investigate the prevalence of Demodex folliculorum (D. folliculorum) mites in polycystic ovary syndrome patients as well as to examine the relationship between Demodex infestation and the presence of acne and oily or dry skin types in polycystic ovary syndrome patients. 41 polycystic ovary syndrome patients and 47 non-polycystic ovary syndrome control subjects were enrolled in the study. polycystic ovary syndrome was diagnosed according to the revised 2003 ESHRE/ASRM polycystic ovary syndrome Consensus Workshop Group diagnostic criteria. Microscopic examination of D. folliculorum mites was carried out by standardized skin surface biopsy. The result was considered positive when there were more than 5 mites per cm2. D. folliculorum was positive in 53.7% of the polycystic ovary syndrome patients and 31.9% of the non-polycystic ovary syndrome group (p=0.052). Demodex positivity was significantly associated with acne (p=0.003) and oily skin (p=0.005) in the polycystic ovary syndrome patients but not in the controls. Our study is limited by the relatively small number of subjects and the observational nature of the study design. Demodex mites might have a role in acne pathogenesis in patients with polycystic ovary syndrome. Anti-Demodex treatment may increase the response to treatment of acne. Further studies are indicated.

Collaborative recall of details of an emotional film.

PubMed

Wessel, Ineke; Zandstra, Anna Roos E; Hengeveld, Hester M E; Moulds, Michelle L

2015-01-01

Collaborative inhibition refers to the phenomenon that when several people work together to produce a single memory report, they typically produce fewer items than when the unique items in the individual reports of the same number of participants are combined (i.e., nominal recall). Yet, apart from this negative effect, collaboration may be beneficial in that group members remove errors from a collaborative report. Collaborative inhibition studies on memory for emotional stimuli are scarce. Therefore, the present study examined both collaborative inhibition and collaborative error reduction in the recall of the details of emotional material in a laboratory setting. Female undergraduates (n = 111) viewed a film clip of a fatal accident and subsequently engaged in either collaborative (n = 57) or individual recall (n = 54) in groups of three. The results show that, across several detail categories, collaborating groups recalled fewer details than nominal groups. However, overall, nominal recall produced more errors than collaborative recall. The present results extend earlier findings on both collaborative inhibition and error reduction to the recall of affectively laden material. These findings may have implications for the applied fields of forensic and clinical psychology.

Mathematics learning disability in girls with Turner syndrome or fragile X syndrome.

PubMed

Murphy, Melissa M; Mazzocco, Michèle M M; Gerner, Gwendolyn; Henry, Anne E

2006-07-01

Two studies were carried out to examine the persistence (Study 1) and characteristics (Study 2) of mathematics learning disability (MLD) in girls with Turner syndrome or fragile X during the primary school years (ages 5-9 years). In Study 1, the rate of MLD for each syndrome group exceeded the rate observed in a grade-matched comparison group, although the likelihood of MLD persisting through the primary school years was comparable for all three groups. In Study 2, formal and informal math skills were compared across the syndrome groups, a normative group, and children from the normative group who had MLD. Few differences were observed between the Turner syndrome and normative groups. Despite having rote counting and number representation skills comparable to those in the normative group, girls with fragile X had difficulty with counting rules (e.g., cardinality, number constancy). However, this difficulty did not distingush them from the MLD group. Overall, counting skills appear to distinguish the Turner syndrome and fragile X groups, suggesting that the specificity of math deficits emerges earlier for fragile X than Turner syndrome.

Burnout syndrome in first to sixth-year medical students at a private university in the north of Mexico: descriptive cross-sectional study.

PubMed

Asencio-López, Laura; Almaraz-Celis, Guillermo Daniel; Carrillo Maciel, Vicente; Huerta Valenzuela, Paola; Silva Goytia, Luis; Muñoz Torres, Marcos; Monroy Caballero, Fernando; Regalado Tapia, Joel; Dipp Martin, Kerigma; López Miranda, Dinorah; Medina Lavenant, Clyvia; Pizarro Rodríguez, Karen; Santiago Martínez, Cesar; Saucedo Aparicio, Alma Geovanna; Flores Lepe, Rodolfo

2016-04-25

Burnout syndrome is a three-dimensional clinical syndrome caused by stress at work. It is frequent in professions which require direct contact with people. In Mexico, the presence of Burnout Syndrome in doctors and medical students, is characterized as a threat to their health, quality of life and professional performance. To evaluate the prevalence of burnout syndrome in students of years 1 through 6 of medical school at a private university in northern Mexico. Cross-sectional study in the Escuela de Medicina Campus Laguna de la Universidad Autónoma de Durango. The one-dimensional scale of Burnout Student (EUBE) and the Maslach Burnout Inventory (MBI) were applied to the participants. SPSS 19 was used to analyze the data. Of the 344 students, 255 participated; 153 from years 1 to 3 (group 1); and 72 from years 4 to 6 (group 2). We found that 94.1% of the students of group 1 had mild burnout syndrome, and 2.8% had moderate burnout syndrome. In Group 2, 27.8% had moderate burnout syndrome, and 8.3% had severe burnout syndrome. The prevalence of severe burnout syndrome was higher in group 2 than in group 1 (p=0.02). Burnout syndrome affects medical students across all stages of their studies, and develops in a progressive way. In our study, external factors have no influence on the development of burnout syndrome.

Basal cell nevus syndrome (Gorlin syndrome): genetic insights, diagnostic challenges, and unmet milestones.

PubMed

Akbari, Maryam; Chen, Harold; Guo, Grace; Legan, Zachary; Ghali, Ghali

2018-01-31

In this article, we present three clinical case reports on Basal Cell Nevus Syndrome (Gorlin Syndrome). Gorlin syndrome is an inherited medical condition with challenges that manifest in multiple body systems and complicate early diagnosis. We examine the epidemiology of the disease and benefits of genetic testing, molecular pathophysiology, and advancement in the molecular-based therapy of Basal Cell Nevus syndrome. The goal of this paper is to shed light on both unmet challenges and advancements in the management of Gorlin syndrome and to provide a new clinical perspective and guidance for future research. Furthermore, the FDA approved Hedgehog pathway inhibitors Vismodegib and Sonidegib designed for advanced basal cell carcinoma have opened a new door for treatment that may ultimately decrease the number of surgeries for a patient with Gorlin syndrome. The role of these agents in syndromic odontogenic keratocyst has not been studied extensively, but one study found that hedgehog pathway inhibitors decrease the size of syndromic odontogenic keratocyst. Ideal surgical treatment that balances low recurrence rates with low impact on one's quality of life for syndromic odontogenic keratocyst is another unanswered question for oral and maxillofacial surgeons. Per survey studies, treatment options practiced for syndromic odontogenic keratocyst range from marsupialization to segmental osteotomy. Future studies performed should take a comprehensive long-term approach with at least three years of follow-up in order to determine the most appropriate treatment. Copyright © 2018 Elsevier B.V. All rights reserved.

Collaboration in academic medicine: reflections on gender and advancement.

PubMed

Carr, Phyllis L; Pololi, Linda; Knight, Sharon; Conrad, Peter

2009-10-01

Collaboration in academic medicine is encouraged, yet no one has studied the environment in which faculty collaborate. The authors investigated how faculty experienced collaboration and the institutional atmosphere for collaboration. In 2007, as part of a qualitative study of faculty in five disparate U.S. medical schools, the authors interviewed 96 medical faculty at different career stages and in diverse specialties, with an oversampling of women, minorities, and generalists, regarding their perceptions and experiences of collaboration in academic medicine. Data analysis was inductive and driven by the grounded theory tradition. Female faculty expressed enthusiasm about the potential and process of collaboration; male faculty were more likely to focus on outcomes. Senior faculty experienced a more collaborative environment than early career faculty, who faced numerous barriers to collaboration: the hierarchy of medical academe, advancement criteria, and the lack of infrastructure supportive of collaboration. Research faculty appreciated shared ideas, knowledge, resources, and the increased productivity that could result from collaboration, but they were acutely aware that advancement requires an independent body of work, which was a major deterrent to collaboration among early career faculty. Academic medicine faculty have differing views on the impact and benefits of collaboration. Early career faculty face concerning obstacles to collaboration. Female faculty seemed more appreciative of the process of collaboration, which may be of importance for transitioning to a more collaborative academic environment. A reevaluation of effective benchmarks for promotion of faculty is warranted to address the often exclusive reliance on individualistic achievement.

Assessing Online Collaborative Discourse.

PubMed

Breen, Henny

2015-01-01

This qualitative study using transcript analysis was undertaken to clarify the value of Harasim's Online Collaborative Learning Theory as a way to assess the collaborative process within nursing education. The theory incorporated three phases: (a) idea generating; (b) idea organizing; and (c) intellectual convergence. The transcripts of asynchronous discussions from a 2-week module about disaster nursing using a virtual community were analyzed and formed the data for this study. This study supports the use of Online Collaborative Learning Theory as a framework for assessing online collaborative discourse. Individual or group outcomes were required for the students to move through all three phases of the theory. The phases of the Online Collaborative Learning Theory could be used to evaluate the student's ability to collaborate. It is recommended that group process skills, which have more to do with interpersonal skills, be evaluated separately from collaborative learning, which has more to do with cognitive skills. Both are required for practicing nurses. When evaluated separately, the student learning needs are more clearly delineated. © 2014 Wiley Periodicals, Inc.

Independent associations between a metabolic syndrome severity score and future diabetes by sex and race: the Atherosclerosis Risk In Communities Study and Jackson Heart Study.

PubMed

Gurka, Matthew J; Golden, Sherita H; Musani, Solomon K; Sims, Mario; Vishnu, Abhishek; Guo, Yi; Cardel, Michelle; Pearson, Thomas A; DeBoer, Mark D

2017-07-01

The study aimed to assess for an association between the degree of severity of the metabolic syndrome and risk of type 2 diabetes beyond that conferred by the individual components of the metabolic syndrome. We assessed HRs for an Adult Treatment Panel III (ATP-III) metabolic syndrome score (ATP-III MetS) and a sex- and race-specific continuous metabolic syndrome severity z score related to incident diabetes over a median of 7.8 years of follow-up among participants of two observational cohorts, the Atherosclerosis Risk in Communities study (n = 10,957) and the Jackson Heart Study (n = 2137). The ATP-III MetS had an HR for incident diabetes of 4.36 (95% CI 3.83, 4.97), which was attenuated in models that included the individual metabolic syndrome components. By contrast, participants in the fourth quartile of metabolic syndrome severity (compared with the first quartile) had an HR of 17.4 (95% CI 12.6, 24.1) for future diabetes; in models that also included the individual metabolic syndrome components, this remained significant, with an HR of 3.69 (95% CI 2.42, 5.64). There was a race × metabolic syndrome interaction in these models such that HR was greater for black participants (5.30) than white participants (2.24). When the change in metabolic syndrome severity score was included in the hazard models, this conferred a further association, with changes in metabolic syndrome severity score of ≥0.5 having a HR of 2.66 compared with changes in metabolic syndrome severity score of ≤0. Use of a continuous sex- and race-specific metabolic syndrome severity z score provided an additional prediction of risk of diabetes beyond that of the individual metabolic syndrome components, suggesting an added risk conferred by the processes underlying the metabolic syndrome. Increases in this score over time were associated with further risk, supporting the potential clinical utility of following metabolic syndrome severity over time.

Nurses' professional values and attitudes toward collaboration with physicians.

PubMed

Brown, Sara S; Lindell, Deborah F; Dolansky, Mary A; Garber, Jeannie S

2015-03-01

Growing evidence suggests that collaborative practice improves healthcare outcomes, but the precursors to collaborative behavior between nurses and physicians have not been fully explored. The purpose of this descriptive correlational study was to describe the professional values held by nurses and their attitudes toward physician-nurse collaboration and to explore the relationships between nurses' characteristics (e.g. education, type of work) and professional values and their attitudes toward nurse-physician collaboration. This descriptive correlational study examines the relationship between nurses' professional values (Nurses Professional Values Scale-Revised) and their attitudes toward nurse-physician collaboration (Jefferson Scale of Attitudes toward Physician-Nurse Collaboration). Permission to conduct the study was received from the hospital, and the Institutional Review Boards of the healthcare system and the participating university. A convenience sample of 231 registered nurses from a tertiary hospital in the United States was surveyed. A significant positive relationship was found between nurses' professional values and better attitudes toward collaboration with physicians (r = .26, p < .01). Attitude toward collaboration with physicians was also positively associated with master's or higher levels of education (F(3, 224) = 4.379, p = .005). The results of this study can be helpful to nurse administrators who are responsible for developing highly collaborative healthcare teams and for nurse educators who are focused on developing professional values in future nurses. © The Author(s) 2014.

The Phenomenon of Collaboration: A Phenomenologic Study of Collaboration between Family Medicine and Obstetrics and Gynecology Departments at an Academic Medical Center

ERIC Educational Resources Information Center

Brown, David R.; Brewster, Cheryl D.; Karides, Marina; Lukas, Lou A.

2011-01-01

Collaboration is essential to manage complex real world problems. We used phenomenologic methods to elaborate a description of collaboration between two departments at an academic medical center who considered their relationship to represent a model of effective collaboration. Key collaborative structures included a shared vision and commitment by…

Locating Elementary Teachers' Professional Communities in a Structured Collaboration Environment

ERIC Educational Resources Information Center

Chu, Szu Yang

2016-01-01

As teacher collaboration becomes an increasingly common goal in school organization, teachers' experiences and perspectives in a Structured Collaboration Environment remain under-examined. This qualitative case study explored how teachers participated in collaborative work, the outcomes of collaboration, and supports and obstacles to productive…

[Clinical study of area of Jiangsu province of polycystic ovarian syndrome correlation distribution of traditional Chinese medicine syndrome type and improper diet].

PubMed

Feng, Yu; Gao, Yue-Ping

2014-05-01

Polycystic ovary syndrome (PCOS) is one of the most popular diseases in obstetrics and gynecology research at internal and abroad at present, traditional Chinese medicine(TCM)in the clinical treatment of the disease have the advantage. Clinical epidemiological study of descriptive research method this research adopts investigation, observation of TCM syndromes and improper diet through 401 cases in Jiangsu Province confirmed PCOS patients, to explore the relationship between TCM syndrome type distribution and improper diet factors, and to provide the clinical basis for further etiology of this disease research. TCM syndrome type distribution of the disease is kidney deficiency, phlegm stagnation syndrome, qi stagnation and blood stasis syndrome, syndrome of dampness heat of liver channel and is composed of 4 basic syndromes and formed complex syndrome, and the composite and syndrome type (60.85%); combined with the analysis of traditional Chinese medicine dialectical, Pure empirical syndrome this disease (46.88%), followed by the actual card (45.39%), pure deficiency is rare. Improper diet factors associated with the disease, in which improper diet with different TCM syndrome type distribution significantly related. Stagnation of phlegm dampness syndrome is the main syndrome of the disease type, improper diet factors and every syndrome PCOS type distribution is as follows: the partial eclipse fatness greasy with basic syndromes of phlegm dampness stagnation of kidney deficiency syndrome, the nephrasthenia syndrome is less; eating spicy stimulation by basic syndromes of stagnation of Qi and blood stasis; eating cold people the basic certificate type of qi stagnation and blood stasis; The diet of patients are more prone to stagnation of phlegm dampness syndrome.

Turner syndrome: transition from pediatrics to adulthood.

PubMed

Rubin, Karen R

2008-09-01

To highlight the importance of an improved, seamless, and effective transition from pediatric to adult care, especially for medically complex conditions such as Turner syndrome (TS). The morbidities in adult patients with TS are reviewed, including features of the metabolic syndrome, congenital and acquired cardiovascular conditions, osteopenia and osteoporosis, autoimmune thyroid disease, and obesity, and psychobehavioral issues are addressed, in terms of promoting the development of independent self-care and autonomy in adolescent patients. An essential component of high-quality health care, transition for adolescents with TS needs to be reengineered as a staged process initiated during early-stage adolescence (about age 12 years), when exogenous estrogen therapy is begun in coordination with the final phase of growth hormone therapy. At this time, the focus of care shifts from the parent to the adolescent and from maximizing final adult height to inducing puberty with gradually increasing doses of estrogen. During this transition, the development of healthful and independent healthcare behaviors should be promoted to prepare patients with TS for the adult responsibility of self-care. During the final phase of transition, an adult care plan should be formulated in collaboration with the adolescent with TS and her providers of adult care to improve the likelihood that she will continue to be carefully monitored in a way that optimizes her adult health and longevity. The transitional period from pediatrics to adulthood is the ideal time for patients with TS to be made aware of their health history and health needs and of the evolving impact of TS into adulthood.

Assessing the Success Rate of Students Using a Learning Management System Together with a Collaborative Tool in Web-Based Teaching of Programming Languages

ERIC Educational Resources Information Center

Cavus, Nadire; Ibrahim, Dogan

2007-01-01

The development of collaborative studies in learning has led to a renewed interest in the field of Web-based education. In this experimental study a highly interactive and collaborative virtual teaching environment has been created by supporting Moodle LMS with collaborative learning tool GREWPtool. The aim of this experimental study has been to…

Prevalence of metabolic syndrome and cardiovascular risk level in a vulnerable population.

PubMed

Kim, Chun-Ja; Park, JeeWon; Kang, Se-Won

2015-04-01

This study examined the prevalence of metabolic syndrome and the risk level of cardiovascular disease (CVD) in a vulnerable population of 407 subjects in Korea. This descriptive study was a part of the Tailed Health Visiting Service Program, using baseline data from public health centres in Suwon, Korea. The definition of metabolic syndrome was based on the National Cholesterol Education Program criteria, and risk of CVD was estimated according to the Framingham study equation. This study demonstrated that the prevalence of metabolic syndrome was 40.8% higher and the risk of CVD was significantly 3.1 times higher among those with metabolic syndrome than among those without it. Of those with metabolic syndrome, 50.6% overall and 81.1% of men had a high risk for CVD. These findings suggest a need to screen and prevent the risk of CVD in vulnerable populations with metabolic syndrome. © 2014 Wiley Publishing Asia Pty Ltd.

[Caregiver Stress in Foster and Adoptive Parents of Children with Fetal Alcohol Spectrum Disorders].

PubMed

Sarimski, Klaus

2014-01-01

Caregiver Stress in Foster and Adoptive Parents of Children with Fetal Alcohol Spectrum Disorders. Foster and adoptive parents of 71 children with fetal alcohol syndrome (FAS) report on developmental and behavioral characteristics, family stress, coping resources and their satisfaction with support. The data reveal an elevated rate of social and emotional problems in the children. In spite positive individual and social resources, the foster and adoptive parents feel a high level of caregiver stress. 30 % of them rate the support they receive from pediatric, therapeutic or educational services as lower than expected. Specifically, they miss early information on the diagnosis, professional knowledge and support for the special challenges of education and managing behavioral problems in their collaboration with social support agencies.

Right heart failure: toward a common language.

PubMed

Mehra, Mandeep R; Park, Myung H; Landzberg, Michael J; Lala, Anuradha; Waxman, Aaron B

2014-02-01

In this perspective, the International Right Heart Foundation Working Group moves a step forward to develop a common language to describe the development and defects that exemplify the common syndrome of right heart failure. We first propose fundamental definitions of the distinctive components of the right heart circulation and provide consensus on a universal definition of right heart failure. These definitions will form the foundation for describing a uniform nomenclature for right heart circulatory failure with a view to foster collaborative research initiatives and conjoint education in an effort to provide insight into echanisms of disease unique to the right heart. © 2014 Published by International Society for the Heart and Lung Transplantation on behalf of International Society for Heart and Lung Transplantation.

Intervening to Reduce Inequalities in Infections in Europe

PubMed Central

Semenza, Jan C.; Giesecke, Johan

2008-01-01

The European Centre for Disease Prevention and Control was founded in response to newly emerging infections such as severe acute respiratory syndrome and avian influenza. However, Europe faces other communicable disease challenges that have proven to be remarkably resilient to public health interventions. We present examples of communicable diseases with inequitable distribution among those with poor educational attainment, low income, or other socioeconomic factors in every European country. Because these findings are incompatible with social justice and fairness, we examine strategic interventions targeting upstream causes of communicable disease transmission keeping in mind 10 indispensable public health functions essential to reach marginalized groups. These interventions have to be tailored to the socio-political context and rely on community-based decision-making and intersectorial collaboration. PMID:18381991

Harmful Algal Blooms and Public Health.

PubMed

Grattan, Lynn M; Holobaugh, Sailor; Morris, J Glenn

2016-07-01

The five most commonly recognized Harmful Algal Bloom related illnesses include Ciguatera poisoning, Paralytic Shellfish poisoning, Neurotoxin Shellfish poisoning, Diarrheic Shellfish Poisoning and Amnesic Shellfish poisoning. Although they are each the product of different toxins, toxin assemblages or HAB precursors these clinical syndromes have much in common. Exposure occurs through the consumption of fish or shellfish; routine clinical tests are not available for diagnosis; there is no known antidote for exposure; and the risk of these illnesses can negatively impact local fishing and tourism industries. Thus, illness prevention is of paramount importance to minimize human and public health risks. To accomplish this, close communication and collaboration is needed among HAB scientists, public health researchers and local, state and tribal health departments at academic, community outreach, and policy levels.

Rare complications after second hematopoietic stem cell transplantation for thalassemia major.

PubMed

Yanir, Asaf; Yatsiv, Ido; Braun, Jacques; Zilkha, Amir; Brooks, Rebecca; Bouhanna, Dalia; Weintraub, Michael; Stepensky, Polina

2012-07-01

We describe an 11-year-old girl with thalassemia major who underwent a second hematopoietic stem cell transplantation from a matched related donor and who subsequently developed posttransplant lymphoproliferative disorder complicated by severe ascending paralysis resembling Guillian-Barré syndrome. Six months later she developed a massive pericardial effusion. She received a multimodal treatment for these complications and currently, 18 months after transplantation, she is in a good clinical condition, is transfusion independent, with no evidence of graft-versus-host disease and off all treatment. This case highlights the dilemma surrounding second hematopoietic stem cell transplantations in hemoglobinopathies and the need for a careful, well informed, and collaborative decision-making process by patients, families, and medical professionals.

Combining Collaborative Learning with Learning Management Systems in Teaching Programming Language

ERIC Educational Resources Information Center

Cavus, Nadire; Uzunboylu, Huseyin; Ibrahim, Dogan

2006-01-01

The development of collaborative studies in learning has led to a renewed interest in the field of web-based education. In this experimental study, a highly interactive and collaborative teaching environment was created using Moodle, a learning management system with two types of Collaborative Tools (CTs): Standard CT and Advanced CT to create a…

Preservice Science Teachers' Collaborative Knowledge Building through Argumentation on Healthy Eating in a Computer Supported Collaborative Learning Environment

ERIC Educational Resources Information Center

Namdar, Bahadir

2017-01-01

The purpose of this study was to investigate preservice science teachers' collaborative knowledge building through socioscientific argumentation on healthy eating in a multiple representation-rich computer supported collaborative learning (CSCL) environment. This study was conducted with a group of preservice science teachers (n = 18) enrolled in…

Devising and Interdisciplinary Teaching: A Case Study in Collaboration between Theatre and Humanities Courses

ERIC Educational Resources Information Center

Mahoney, Kristin; Brown, Rich

2013-01-01

We use an experimental course collaboration that occurred in the winter of 2012 as a case study for an approach to interdisciplinary collaboration between Theatre and Humanities courses, and we argue that the theatre methodology of "devising" can serve as a particularly rich locus for collaboration between Theatre students and other…

Understanding Teacher Collaboration Processes from a Complexity Theory Perspective: A Case Study of a Chinese Secondary School

ERIC Educational Resources Information Center

Yuan, Rui; Zhang, Jia; Yu, Shulin

2018-01-01

Although research on teacher collaboration has proliferated in the last few decades, scant attention has been paid to the development of teacher collaboration in school contexts. Informed by the perspective of complexity theory, this study investigates the complex process of teacher collaboration through qualitative interviews in an English…

The Integration of a Three-Year-Long Intercultural Collaborative Project into a Foreign Language Classroom for the Development of Intercultural Competence

ERIC Educational Resources Information Center

Hirotani, Maki; Fujii, Kiyomi

2015-01-01

Many studies on intercultural communication introduced how their collaborative projects were conducted. There are also several studies that discuss how intercultural collaborative activities can be integrated into a foreign language curriculum, as well as a big project (the INTENT project) that helps teachers integrate collaborative activities…

Invasive Management Strategies and Antithrombotic Treatments in Patients With Non-ST-Segment-Elevation Acute Coronary Syndrome in China: Findings From the Improving CCC Project (Care for Cardiovascular Disease in China).

PubMed

Yang, Qing; Wang, Ying; Liu, Jing; Liu, Jun; Hao, Yongchen; Smith, Sidney C; Huo, Yong; Fonarow, Gregg C; Ma, Changsheng; Ge, Junbo; Taubert, Kathryn A; Morgan, Louise; Guo, Yang; Wang, Wei; Zhou, Yujie; Zhao, Dong

2017-06-01

Early invasive strategies and antithrombotic treatments are key treatments of non-ST-segment-elevation acute coronary syndrome (NSTE-ACS). Few studies have examined the use of these strategies in patients with NSTE-ACS in China. This study aimed to assess the applications of invasive strategies and antithrombotic treatments in patients with NSTE-ACS and compare their outcomes. A nationwide registry study, Improving CCC (Care for Cardiovascular Disease in China) ACS project, was launched in 2014 as a collaborative study of the American Heart Association and Chinese Society of Cardiology (CSC), with 142 participating hospitals reporting details of clinical management and outcomes of patients with NSTE-ACS. The use of invasive strategies and antithrombotic treatments was examined based on updated guidelines. Major adverse cardiovascular events were analyzed. A total of 9953 patients with NSTE-ACS were enrolled. Angiography was performed in 63.1% of these patients, and 58.2% underwent percutaneous coronary intervention (PCI). However, 40.6% of patients did not undergo early risk assessment, and very-high-risk patients had the lowest proportion of PCI (41.7%). PCI was performed within recommended times in 11.1% of very-high-risk patients and 26.3% of high risk patients. Those who underwent PCI within 2 hours had higher mortality in high-risk and very-high-risk patients who received PCI. Early dual antiplatelet treatment was given in 88.3% of patients. There are notable differences between guideline recommendations and the clinical management of patients with NSTE-ACS in China. The reasons for very-high-risk NSTE-ACS patients not undergoing PCI, and the optimal timing of PCI, require further clarification. URL: http://www.clinicaltrials.gov. Unique identifier: NCT02306616. © 2017 American Heart Association, Inc.

Teacher Educators' Collaboration in Subject Departments: Collaborative Activities and Social Relations

ERIC Educational Resources Information Center

Heldens, Henderijn; Bakx, Anouke; den Brok, Perry

2015-01-01

Teacher educators' collaboration plays an important role in the improvement of teacher education. Many studies in educational research focus on collaboration from 1 particular perspective. A focus on 2 perspectives, a qualitative (focusing on collaborative activities) as well as a quantitative (focusing on relations) perspective, and relating both…

Training for Collaboration: Collaborative Practice Skills for Mental Health Professionals

ERIC Educational Resources Information Center

Bischoff, Richard J.; Springer, Paul R.; Reisbig, Allison M. J.; Lyons, Sheena; Likcani, Adriatik

2012-01-01

The purpose of the study was to identify skills that mental health practitioners need for successful collaborative practice in medical settings. Known experts in the field of collaborative health care completed a survey designed to elicit their suggestions about what is needed for successful collaborative care practice. Through qualitative…

Exploring nurses' perceptions of organizational factors of collaborative relationships.

PubMed

Smith, Kevin; Lavoie-Tremblay, Melanie; Richer, Marie-Claire; Lanctot, Suzanne

2010-01-01

Collaborative relationships are influenced by the context of the organization in which health professionals work. There is limited knowledge concerning the influence that organizational factors have on this process. A descriptive study design using semistructured interviews was used to explore nurses' perceptions of the organizational factors that influence the development of collaborative relationships in health care teams. Eight nurses from a university-affiliated teaching hospital in Montreal participated in this study. Nurses described a variety of experiences where effective collaboration took place. One common theme emerged from the participants: Being Available for Collaboration. Nurses perceived that 2 particular organizational factors-time and workday scheduling-influenced the development of collaborative relationships. This study supports the need for health care managers to promote and invest in alternative means of communication technology and to structure clinical care environments to help promote the development of collaborative relationships within health care teams.

Incremental Predictive Value of Serum AST-to-ALT Ratio for Incident Metabolic Syndrome: The ARIRANG Study

PubMed Central

Ahn, Song Vogue; Baik, Soon Koo; Cho, Youn zoo; Koh, Sang Baek; Huh, Ji Hye; Chang, Yoosoo; Sung, Ki-Chul; Kim, Jang Young

2016-01-01

Aims The ratio of aspartate aminotransferase (AST) to alanine aminotransferase (ALT) is of great interest as a possible novel marker of metabolic syndrome. However, longitudinal studies emphasizing the incremental predictive value of the AST-to-ALT ratio in diagnosing individuals at higher risk of developing metabolic syndrome are very scarce. Therefore, our study aimed to evaluate the AST-to-ALT ratio as an incremental predictor of new onset metabolic syndrome in a population-based cohort study. Material and Methods The population-based cohort study included 2276 adults (903 men and 1373 women) aged 40–70 years, who participated from 2005–2008 (baseline) without metabolic syndrome and were followed up from 2008–2011. Metabolic syndrome was defined according to the harmonized definition of metabolic syndrome. Serum concentrations of AST and ALT were determined by enzymatic methods. Results During an average follow-up period of 2.6-years, 395 individuals (17.4%) developed metabolic syndrome. In a multivariable adjusted model, the odds ratio (95% confidence interval) for new onset of metabolic syndrome, comparing the fourth quartile to the first quartile of the AST-to-ALT ratio, was 0.598 (0.422–0.853). The AST-to-ALT ratio also improved the area under the receiver operating characteristic curve (AUC) for predicting new cases of metabolic syndrome (0.715 vs. 0.732, P = 0.004). The net reclassification improvement of prediction models including the AST-to-ALT ratio was 0.23 (95% CI: 0.124–0.337, P<0.001), and the integrated discrimination improvement was 0.0094 (95% CI: 0.0046–0.0143, P<0.001). Conclusions The AST-to-ALT ratio independently predicted the future development of metabolic syndrome and had incremental predictive value for incident metabolic syndrome. PMID:27560931

Younger and older adults' collaborative recall of shared and unshared emotional pictures.

PubMed

Barber, Sarah J; Castrellon, Jaime J; Opitz, Philipp; Mather, Mara

2017-07-01

Although a group of people working together recalls more items than any one individual, they recall fewer unique items than the same number of people working apart whose responses are combined. This is known as collaborative inhibition, and it is a robust effect that occurs for both younger and older adults. However, almost all previous studies documenting collaborative inhibition have used stimuli that were neutral in emotional valence, low in arousal, and studied by all group members. In the current experiments, we tested the impact of picture-stimuli valence, picture-stimuli arousal, and information distribution in modulating the magnitude of collaborative inhibition. We included both younger and older adults because there are age differences in how people remember emotional pictures that could modulate any effects of emotion on collaborative inhibition. Results revealed that when information was shared (i.e., studied by all group members), there were robust collaborative inhibition effects for both neutral and emotional stimuli for both younger and older adults. However, when information was unshared (i.e., studied by only a single group member), these effects were attenuated. Together, these results provide mixed support for the retrieval strategy disruption account of collaborative inhibition. Supporting the retrieval strategy disruption account, unshared study information was less susceptible to collaborative inhibition than shared study information. Contradicting the retrieval strategy disruption account, emotional valence and arousal did not modulate the magnitude of collaborative inhibition despite the fact that participants clustered the emotional, but not neutral, information together in memory.

Concept of Collaboration from the Islamic Perspective: The View Points for Health Providers.

PubMed

Irajpour, Alireza; Ghaljaei, Fereshteh; Alavi, Mousa

2015-10-01

Collaboration involves direct and open communication and respect for different perspectives. In particular, religious literature has many references to collaboration. This study is a report of knowledge synthesis based on qualitative systematic review by content analysis. The study surveys the concept of collaboration from the Islamic point of view and intends to answer the question, 'Does the Quran deal with the use of collaboration in human activities?' This study was conducted using electronic documents from websites related to Islamic and Quran sciences, such as Howzah.net, Nashriat.ir, Tebyan.net and Google Scholar from 1950 until 2013 by focusing on the keywords, collaboration and Islam, and then retrieving the Islamic document (Quran and Hadith). The language in which the search was conducted was English and Persian. Nearly, 28 articles and 72 books related to this topic were found and after applying the search criteria, only 13% of the references were found to be applicable. In the Quran, collaboration is equivalent to Taavon, and Muslims are requested to collaborate in their affairs and never collaborate with each other for illegal affairs. Islam asserts that everyone requires social relationship in their life. God has enacted mutual rights for people and meeting these requirements is only possible through collaboration and respecting mutual rights.

Using the prisms of gender and rank to interpret research collaboration power dynamics.

PubMed

Gaughan, Monica; Bozeman, Barry

2016-08-01

Collaboration is central to modern scientific inquiry, and increasingly important to the professional experiences of academic scientists. While the effects of collaboration have been widely studied, much less is understood about the motivations to collaborate and collaboration dynamics that generate scientific outcomes. A particular interest of this study is to understand how collaboration experiences differ between women and men, and the attributions used to explain these differences. We use a multi-method study of university Science, Technology, Engineering, and Mathematics faculty research collaborators. We employ 177 anonymous open-ended responses to a web-based survey, and 60 semi-structured interviews of academic scientists in US research universities. We find similarities and differences in collaborative activity between men and women. Open-ended qualitative textual analysis suggests that some of these differences are attributed to power dynamics - both general ones related to differences in organizational status, and in power dynamics related specifically to gender. In analysis of semi-structured interviews, we find that both status and gender were used as interpretive frames for collaborative behavior, with more emphasis placed on status than gender differences. Overall, the findings support that gender structures some part of the collaborative experience, but that status hierarchy exerts more clear effects.

The Roles of a University Professor in a Teacher Study Group

ERIC Educational Resources Information Center

Yeh, Hui-Chin; Hung, Hsiu-Ting; Chen, Yi-Ping

2012-01-01

The opportunities in which university professors collaborate with the practicing school teachers in a teacher study group are few. This study investigated how a university professor facilitated a collaborative teacher study group to enhance teachers' professional growth. Five primary school teachers and a university professor collaborated on…

Influence of the timing of cardiac surgery on the outcome of patients with infective endocarditis and stroke.

PubMed

Barsic, Bruno; Dickerman, Stuart; Krajinovic, Vladimir; Pappas, Paul; Altclas, Javier; Carosi, Giampiero; Casabé, José H; Chu, Vivian H; Delahaye, Francois; Edathodu, Jameela; Fortes, Claudio Querido; Olaison, Lars; Pangercic, Ana; Patel, Mukesh; Rudez, Igor; Tamin, Syahidah Syed; Vincelj, Josip; Bayer, Arnold S; Wang, Andrew

2013-01-01

The timing of cardiac surgery after stroke in infective endocarditis (IE) remains controversial. We examined the relationship between the timing of surgery after stroke and the incidence of in-hospital and 1-year mortalities. Data were obtained from the International Collaboration on Endocarditis-Prospective Cohort Study of 4794 patients with definite IE who were admitted to 64 centers from June 2000 through December 2006. Multivariate logistic regression and Cox regression analyses were performed to estimate the impact of early surgery on hospital and 1-year mortality after adjustments for other significant covariates. Of the 857 patients with IE complicated by ischemic stroke syndromes, 198 who underwent valve replacement surgery poststroke were available for analysis. Overall, 58 (29.3%) patients underwent early surgical treatment vs 140 (70.7%) patients who underwent late surgical treatment. After adjustment for other risk factors, early surgery was not significantly associated with increased in-hospital mortality rates (odds ratio, 2.308; 95% confidence interval [CI], .942-5.652). Overall, probability of death after 1-year follow-up did not differ between 2 treatment groups (27.1% in early surgery and 19.2% in late surgery group, P = .328; adjusted hazard ratio, 1.138; 95% CI, .802-1.650). There is no apparent survival benefit in delaying surgery when indicated in IE patients after ischemic stroke. Further observational analyses that include detailed pre- and postoperative clinical neurologic findings and advanced imaging data (eg, ischemic stroke size), may allow for more refined recommendations on the optimal timing of valvular surgery in patients with IE and recent stroke syndromes.

Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin

PubMed Central

Hakonen, Anna H.; Heiskanen, Silja; Juvonen, Vesa; Lappalainen, Ilse; Luoma, Petri T.; Rantamäki, Maria; Goethem, Gert Van; Löfgren, Ann; Hackman, Peter; Paetau, Anders; Kaakkola, Seppo; Majamaa, Kari; Varilo, Teppo; Udd, Bjarne; Kääriäinen, Helena; Bindoff, Laurence A.; Suomalainen, Anu

2005-01-01

Mutations in the catalytic subunit of the mitochondrial DNA polymerase γ (POLG) have been found to be an important cause of neurological disease. Recently, we and collaborators reported a new neurodegenerative disorder with autosomal recessive ataxia in four patients homozygous for two amino acid changes in POLG: W748S in cis with E1143G. Here, we studied the frequency of this allele and found it to be among the most common genetic causes of inherited ataxia in Finland. We identified 27 patients with mitochondrial recessive ataxia syndrome (MIRAS) from 15 Finnish families, with a carrier frequency in the general population of 1:125. Since the mutation pair W748S+E1143G has also been described in European patients, we examined the haplotypes of 13 non-Finnish, European patients with the W748S mutation. Haplotype analysis revealed that all the chromosomes carrying these two changes, in patients from Finland, Norway, the United Kingdom, and Belgium, originate from a common ancient founder. In Finland and Norway, long, common, northern haplotypes, outside the core haplotype, could be identified. Despite having identical homozygous mutations, the Finnish patients with this adult- or juvenile-onset disease had surprisingly heterogeneous phenotypes, albeit with a characteristic set of features, including ataxia, peripheral neuropathy, dysarthria, mild cognitive impairment, involuntary movements, psychiatric symptoms, and epileptic seizures. The high carrier frequency in Finland, the high number of patients in Norway, and the ancient European founder chromosome indicate that this newly identified ataxia should be considered in the first-line differential diagnosis of progressive ataxia syndromes. PMID:16080118

Present status and perspective of laboratory hematology in Japan: On the standardization of blood cell morphology including myelodysplasia: On behalf of the Japanese Society for Laboratory Hematology.

PubMed

Tohyama, K

2018-05-01

The Japanese Society for Laboratory Hematology (JSLH) was launched in 2000 and has been developed by a mutual collaboration of hematologists, medical technologists, and the companies involved in hematological laboratory testing. The aim of JSLH is the progress and development of laboratory hematology by academic conferences, periodic publication of academic journal, training and education (in the meeting, the journal, or the website), promotion of the standardization of laboratory hematology, and certification of the laboratory hematology specialists. Among 3 specialized committees organized for the standardization of laboratory hematology, the standardization committee on blood cell morphology has been dealing with the various projects on peripheral/bone marrow blood cells and normal/abnormal morphology. Another independent organization, the Japanese National Research Group on idiopathic bone marrow failure syndromes (BMF), has raised the importance of the dysplasia of myelodysplastic syndromes (MDS) and has been conducting the prospective registration, central review, and follow-up study of MDS. This group recently proposed the grading system for diagnostic accuracy of MDS, and the detailed procedure of morphological diagnosis of MDS is presented in the specialized color atlas with typical photographs of various dysplasia. JSLH has also approved the grading system for diagnostic accuracy of MDS and adopted this standardized diagnostic system to the educational item for certification of the laboratory hematology specialists, aiming at a nationwidely expanding morphological evaluation of myelodysplasia. Further and significant progress in the standardization of blood cell morphology will be expected in Japan through the activity of JSLH. © 2018 John Wiley & Sons Ltd.

How patients view probiotics: findings from a multicenter study of patients with inflammatory bowel disease and irritable bowel syndrome.

PubMed

Mercer, MaryBeth; Brinich, Margaret A; Geller, Gail; Harrison, Krista; Highland, Janelle; James, Katherine; Marshall, Patricia; McCormick, Jennifer B; Tilburt, Jon; Achkar, Jean-Paul; Farrell, Ruth M; Sharp, Richard R

2012-02-01

Patients with inflammatory bowel disease (IBD) and irritable bowel syndrome (IBS) have access to a growing number of probiotic products marketed to improve digestive health. It is unclear how patients make decisions about probiotics and what role they expect their gastroenterologists to play as they consider using probiotics. Understanding patients' knowledge, attitudes and expectations of probiotics may help gastroenterologists engage patients in collaborative discussions about probiotics. Focus groups were conducted with patients with IBD and IBS at the Cleveland Clinic, Mayo Clinic, and Johns Hopkins University. Inductive analytic methods were used to identify common themes and draw interpretations from focus group narratives. One hundred thirty-six patients participated in 22 focus groups between March and August 2009. Patients viewed probiotics as an appealing alternative to pharmaceutical drugs and understood probiotics as a more "natural," low-risk therapeutic option. Many patients were hesitant to use them without consulting their gastroenterologists. Patients would weigh the risks and benefits of probiotics, their disease severity and satisfaction with current treatments when considering probiotic use. Patients are interested in probiotics but have many unanswered questions about their use. Our findings suggest that patients with IBD and IBS will look to gastroenterologists and other clinicians as trustworthy advisors regarding the utility of probiotics as an alternative or supplement to pharmaceutical drugs. Gastroenterologists and other clinicians who care for patients with these diseases should be prepared to discuss the potential benefits and risks of probiotics and assist patients in making informed decisions about their use.

Global impact of bronchiectasis and cystic fibrosis

PubMed Central

Redondo, Margarida; Keyt, Holly; Dhar, Raja

2016-01-01

Educational aims To recognise the clinical and radiological presentation of the spectrum of diseases associated with bronchiectasis. To understand variation in the aetiology, microbiology and burden of bronchiectasis and cystic fibrosis across different global healthcare systems. Bronchiectasis is the term used to refer to dilatation of the bronchi that is usually permanent and is associated with a clinical syndrome of cough, sputum production and recurrent respiratory infections. It can be caused by a range of inherited and acquired disorders, or may be idiopathic in nature. The most well recognised inherited disorder in Western countries is cystic fibrosis (CF), an autosomal recessive condition that leads to progressive bronchiectasis, bacterial infection and premature mortality. Both bronchiectasis due to CF and bronchiectasis due to other conditions are placing an increasing burden on healthcare systems internationally. Treatments for CF are becoming more effective leading to more adult patients with complex healthcare needs. Bronchiectasis not due to CF is becoming increasingly recognised, particularly in the elderly population. Recognition is important and can lead to identification of the underlying cause, appropriate treatment and improved quality of life. The disease is highly diverse in its presentation, requiring all respiratory physicians to have knowledge of the different “bronchiectasis syndromes”. The most common aetiologies and presenting syndromes vary depending on geography, with nontuberculous mycobacterial disease predominating in some parts of North America, post-infectious and idiopathic disease predominating in Western Europe, and post-tuberculosis bronchiectasis dominating in South Asia and Eastern Europe. Ongoing global collaborative studies will greatly advance our understanding of the international impact of bronchiectasis and CF. PMID:28210295

A path to precision in the ICU.

PubMed

Maslove, David M; Lamontagne, Francois; Marshall, John C; Heyland, Daren K

2017-04-03

Precision medicine is increasingly touted as a groundbreaking new paradigm in biomedicine. In the ICU, the complexity and ambiguity of critical illness syndromes have been identified as fundamental justifications for the adoption of a precision approach to research and practice. Inherently protean diseases states such as sepsis and acute respiratory distress syndrome have manifestations that are physiologically and anatomically diffuse, and that fluctuate over short periods of time. This leads to considerable heterogeneity among patients, and conditions in which a "one size fits all" approach to therapy can lead to widely divergent results. Current ICU therapy can thus be seen as imprecise, with the potential to realize substantial gains from the adoption of precision medicine approaches. A number of challenges still face the development and adoption of precision critical care, a transition that may occur incrementally rather than wholesale. This article describes a few concrete approaches to addressing these challenges.First, novel clinical trial designs, including registry randomized controlled trials and platform trials, suggest ways in which conventional trials can be adapted to better accommodate the physiologic heterogeneity of critical illness. Second, beyond the "omics" technologies already synonymous with precision medicine, the data-rich environment of the ICU can generate complex physiologic signatures that could fuel precision-minded research and practice. Third, the role of computing infrastructure and modern informatics methods will be central to the pursuit of precision medicine in the ICU, necessitating close collaboration with data scientists. As work toward precision critical care continues, small proof-of-concept studies may prove useful in highlighting the potential of this approach.

The use of syndromic surveillance for decision-making during the H1N1 pandemic: a qualitative study.

PubMed

Chu, Anna; Savage, Rachel; Willison, Don; Crowcroft, Natasha S; Rosella, Laura C; Sider, Doug; Garay, Jason; Gemmill, Ian; Winter, Anne-Luise; Davies, Richard F; Johnson, Ian

2012-10-30

Although an increasing number of studies are documenting uses of syndromic surveillance by front line public health, few detail the value added from linking syndromic data to public health decision-making. This study seeks to understand how syndromic data informed specific public health actions during the 2009 H1N1 pandemic. Semi-structured telephone interviews were conducted with participants from Ontario's public health departments, the provincial ministry of health and federal public health agency to gather information about syndromic surveillance systems used and the role of syndromic data in informing specific public health actions taken during the pandemic. Responses were compared with how the same decisions were made by non-syndromic surveillance users. Findings from 56 interviews (82% response) show that syndromic data were most used for monitoring virus activity, measuring impact on the health care system and informing the opening of influenza assessment centres in several jurisdictions, and supporting communications and messaging, rather than its intended purpose of early outbreak detection. Syndromic data had limited impact on decisions that involved the operation of immunization clinics, school closures, sending information letters home with school children or providing recommendations to health care providers. Both syndromic surveillance users and non-users reported that guidance from the provincial ministry of health, communications with stakeholders and vaccine availability were driving factors in these public health decisions. Syndromic surveillance had limited use in decision-making during the 2009 H1N1 pandemic in Ontario. This study provides insights into the reasons why this occurred. Despite this, syndromic data were valued for providing situational awareness and confidence to support public communications and recommendations. Developing an understanding of how syndromic data are utilized during public health events provides valuable evidence to support future investments in public health surveillance.

Clinical characteristics of metabolic syndrome in Korea, and its comparison with other Asian countries.

PubMed

Hong, A Ram; Lim, Soo

2015-09-01

Metabolic syndrome is referred to as syndrome X or insulin resistance syndrome, and is primarily composed of abdominal obesity, diabetes, glucose intolerance, dyslipidemia and high blood pressure. Asians have a lower frequency of obesity than Caucasians, but have an increasing tendency toward metabolic syndrome. Thus, metabolic syndrome poses a major challenge for public health professionals, and is set to become a social and economic problem in Asian populations. Most data on metabolic syndrome are based on studies from Western countries with only limited information derived from Asian populations. Recently, several studies were carried out on a large scale that represents the general Korean population. The prevalence of metabolic syndrome in Korean adults has varied depending on the study designs and different criteria, but shows a distinct increasing trend of metabolic syndrome driven by an increase in abdominal obesity and dyslipidemia. Given the rapid economic progression of Korea over the past 30 years along with a rise of the aged population, it is expected that the prevalence of metabolic syndrome will further increase. Therefore, a proactive strategy at the governmental level for metabolic syndrome prevention should be implemented, reducing abdominal obesity and dyslipidemia. Healthy dietary habits and regular exercise should be emphasized as a part of such a strategy.

Clinical characteristics of metabolic syndrome in Korea, and its comparison with other Asian countries

PubMed Central

Hong, A Ram; Lim, Soo

2015-01-01

Metabolic syndrome is referred to as syndrome X or insulin resistance syndrome, and is primarily composed of abdominal obesity, diabetes, glucose intolerance, dyslipidemia and high blood pressure. Asians have a lower frequency of obesity than Caucasians, but have an increasing tendency toward metabolic syndrome. Thus, metabolic syndrome poses a major challenge for public health professionals, and is set to become a social and economic problem in Asian populations. Most data on metabolic syndrome are based on studies from Western countries with only limited information derived from Asian populations. Recently, several studies were carried out on a large scale that represents the general Korean population. The prevalence of metabolic syndrome in Korean adults has varied depending on the study designs and different criteria, but shows a distinct increasing trend of metabolic syndrome driven by an increase in abdominal obesity and dyslipidemia. Given the rapid economic progression of Korea over the past 30 years along with a rise of the aged population, it is expected that the prevalence of metabolic syndrome will further increase. Therefore, a proactive strategy at the governmental level for metabolic syndrome prevention should be implemented, reducing abdominal obesity and dyslipidemia. Healthy dietary habits and regular exercise should be emphasized as a part of such a strategy. PMID:26417407

Neuropsychiatric symptoms and syndromes in a large cohort of newly diagnosed, untreated patients with Alzheimer disease.

PubMed

Spalletta, Gianfranco; Musicco, Massimo; Padovani, Alesandro; Rozzini, Luca; Perri, Roberta; Fadda, Lucia; Canonico, Vincenzo; Trequattrini, Alberto; Pettenati, Carla; Caltagirone, Carlo; Palmer, Katie

2010-11-01

Neuropsychiatric symptoms are common in patients with Alzheimer disease (AD). Treatment for both AD and psychiatric disturbances may affect the clinical observed pattern and comorbidity. The authors aimed to identify whether particular neuropsychiatric syndromes occur in untreated patients with AD, establish the severity of syndromes, and investigate the relationship between specific neuropsychiatric syndromes and AD disease severity. Cross-sectional, multicenter, clinical study. A total of 1,015 newly diagnosed, untreated outpatients with AD from five Italian memory clinics were consecutively enrolled in the study from January 2003 to December 2005. All patients underwent thorough examination by clinical neurologists/geriatricians, including neuropsychiatric symptom evaluation with the Neuropsychiatric Inventory. Factor analysis revealed five distinct neuropsychiatric syndromes: the apathetic syndrome (as unique syndrome) was the most frequent, followed by affective syndrome (anxiety and depression), psychomotor (agitation, irritability, and aberrant motor behavior), psychotic (delusions and hallucinations), and manic (disinhibition and euphoria) syndromes. More than three quarters of patients with AD presented with one or more of the syndromes (N = 790, 77.8%), and more than half exhibited clinically significant severity of symptoms (N = 603, 59.4%). With the exception of the affective one, all syndromes showed an increased occurrence with increasing severity of dementia. The authors' study supports the use of a syndrome approach for neuropsychiatric evaluation in patients with AD. Individual neuropsychiatric symptoms can be reclassified into five distinct psychiatric syndromes. Clinicians should incorporate a thorough psychiatric and neurologic examination of patients with AD and consider therapeutic strategies that focus on psychiatric syndromes, rather than specific individual symptoms.

Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome

ClinicalTrials.gov

2018-03-30

Freeman-Sheldon Syndrome; Arthrogryposis Distal Type 2A; Whistling Face Syndrome; Craniocarpotarsal Dysplasia; Craniocarpotarsal Dystrophy; Freeman-Sheldon Syndrome Variant; Sheldon-Hall Syndrome; Arthrogryposis Distal Type 2B; Gordon Syndrome; Arthrogryposis Distal Type 3; Arthrogryposis Distal Type 1; Arthrogryposis, Distal, Type 1A; Arthrogryposis Distal Type 1B; Arthrogryposis, Distal; Craniofacial Abnormalities; Arthrogryposis

Numerical Magnitude Processing Impairments in Genetic Syndromes: A Cross-Syndrome Comparison of Turner and 22Q11.2 Deletion Syndromes

ERIC Educational Resources Information Center

Brankaer, Carmen; Ghesquière, Pol; De Wel, Anke; Swillen, Ann; De Smedt, Bert

2017-01-01

Cross-syndrome comparisons offer an important window onto understanding heterogeneity in mathematical learning disabilities or dyscalculia. The present study therefore investigated symbolic numerical magnitude processing in two genetic syndromes that are both characterized by mathematical learning disabilities: Turner syndrome and 22q11.2 deletion…

A comparative study of educational provision for children with neurogenetic syndromes: parent and teacher survey.

PubMed

Reilly, C; Senior, J; Murtagh, L

2015-12-01

A number of neurogenetic syndromes have a high association with special educational needs including fragile X syndrome (FXS), Prader-Willi syndrome (PWS), Williams syndrome (WS) and Velo-Cardio-Facial syndrome (VCFS). There is a paucity of research on educational provision for children affected by these syndromes. Parents (n = 381) and teachers (n = 204) of school-aged children with one of the four syndromes in the UK and Ireland were surveyed in a range of areas concerning the child's educational provision. Areas surveyed included school placement, views on the needs of children with the syndromes, desired changes to current provision and perceived teacher knowledge. School placement in mainstream settings decreased with age in all of the syndromes. Males with the syndromes were more likely to be in specialised educational settings with the exception of WS. Teachers reported limited input on initial or subsequent training for all of the syndromes. The majority of teachers did not view the needs of children with syndromes as different from other children with intellectual disability (ID) although there were significant differences between the syndromes. Changes deemed necessary to provision by parents and teachers differed between the syndromes indicating the existence of perceptions of syndrome specific needs. The lowest perceived level of teacher knowledge was in the VCFS group. The majority of teachers of children with neurogenetic syndromes report limited knowledge of the syndromes, but also a lack of belief that the children's needs are different from the majority of children with ID. Differences between the syndromes in some areas of provision suggest that a child's syndrome does impact on educational provision in some areas. © 2015 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

A Longitudinal Follow-Up Study of Affect in Children and Adults with Cornelia de Lange Syndrome

ERIC Educational Resources Information Center

Nelson, Lisa; Moss, Jo; Oliver, Chris

2014-01-01

Studies of individuals with Cornelia de Lange syndrome (CdLS) have described changes in mood and behavior with age, although no empirical or longitudinal studies have been conducted. Caregivers of individuals with CdLS (N = 67), cri du chat syndrome (CdCS; N = 42), and Fragile X syndrome (FXS; N = 142) completed the Mood, Interest and Pleasure…

Visualization analysis of author collaborations in schizophrenia research.

PubMed

Wu, Ying; Duan, Zhiguang

2015-02-19

Schizophrenia is a serious mental illness that levies a heavy medical toll and cost burden throughout the world. Scientific collaborations are necessary for progress in psychiatric research. However, there have been few publications on scientific collaborations in schizophrenia. The aim of this study was to investigate the extent of author collaborations in schizophrenia research. This study used 58,107 records on schizophrenia from 2003 to 2012 which were downloaded from Science Citation Index Expanded (SCI Expanded) via Web of Science. CiteSpace III, an information visualization and analysis software, was used to make a visual analysis. Collaborative author networks within the field of schizophrenia were determined using published documents. We found that external author collaboration networks were more scattered while potential author collaboration networks were more compact. Results from hierarchical clustering analysis showed that the main collaborative field was genetic research in schizophrenia. Based on the results, authors belonging to different institutions and in different countries should be encouraged to collaborate in schizophrenia research. This will help researchers focus their studies on key issues, and allow each other to offer reasonable suggestions for making polices and providing scientific evidence to effectively diagnose, prevent, and cure schizophrenia.

Reverse Engineering and Software Products Reuse to Teach Collaborative Web Portals: A Case Study with Final-Year Computer Science Students

ERIC Educational Resources Information Center

Medina-Dominguez, Fuensanta; Sanchez-Segura, Maria-Isabel; Mora-Soto, Arturo; Amescua, Antonio

2010-01-01

The development of collaborative Web applications does not follow a software engineering methodology. This is because when university students study Web applications in general, and collaborative Web portals in particular, they are not being trained in the use of software engineering techniques to develop collaborative Web portals. This paper…

Authorship, collaboration, and funding trends in implantology literature: analysis of five journals from 2005 to 2009.

PubMed

Barão, Valentim Adelino Ricardo; Shyamsunder, Nodesh; Yuan, Judy Chia-Chun; Lee, Damian J; Assunção, Wirley Gonçalves; Sukotjo, Cortino

2011-02-01

To identify the trend of authorship in dental implant by exploring the prevalence of coauthored articles and to investigate the collaboration efforts, trends in funding involved in original articles, and their relationships. Articles published in the Clinical Oral Implants Research, International Journal of Oral & Maxillofacial Implants, Clinical Implant Dentistry and Related Research, Implant Dentistry, and Journal of Oral Implantology from 2005 to 2009 were reviewed. Nonoriginal articles were excluded. For each included articles, number of authors, collaboration efforts, and extramural funding were recorded. Descriptive and analytical statistics (α = 0.05), including logistic regression analysis and χ² test, were used. From a total of 2085 articles, 1503 met the inclusion criteria. Publications with 5 or more authors increased over time (P = 0.813). The amount of collaboration among different disciplines, institutions, and countries all increased. The greatest increase of collaboration was seen among institutions (P = 0.09). Nonfunding studies decreased over time (P = 0.031). There was a strong association between collaboration and funding for the manuscripts during the years studied (OR, 1.5). The number of authors per articles and collaborative studies increased over time in implant-related journals. Collaborative studies were more likely to be funded.

Perceptions of Collaborative Process in a Professional Learning Focused University-Community-School Collaboration

ERIC Educational Resources Information Center

Psimas, Lynnae L.

2012-01-01

The current study explored the collaborative processes present in a collaboration between an urban university in the Southeast United States, a state-funded educational support agency, and several urban and suburban school districts served by the state agency. To obtain a comprehensive understanding of the collaboration and relevant practices,…

Use of an Interculturally Enriched Collaboration Script in Computer-Supported Collaborative Learning in Higher Education

ERIC Educational Resources Information Center

Popov, Vitaliy; Biemans, Harm J. A.; Kuznetsov, Andrei N.; Mulder, Martin

2014-01-01

In this exploratory study, the authors introduced an interculturally enriched collaboration script (IECS) for working in culturally diverse groups within a computer-supported collaborative learning (CSCL) environment and then assessed student online collaborative behaviour, learning performance and experiences. The question was if and how these…

"You Should Collaborate, Children": A Study of Teachers' Design and Facilitation of Children's Collaboration around Touchscreens

ERIC Educational Resources Information Center

Davidsen, Jacob; Vanderlinde, Ruben

2016-01-01

Touchscreens are being integrated into classrooms to support collaborative learning, yet little empirical evidence has been presented regarding how children collaborate using touchscreens in classrooms. In particular, minimal research has been directed towards how teachers can design for and guide children's touchscreen-based collaboration.…

Revealing the Intricate Effect of Collaboration on Innovation

PubMed Central

Inoue, Hiroyasu; Liu, Yang-Yu

2015-01-01

We studied the Japan and U.S. patent records of several decades to demonstrate the effect of collaboration on innovation. We found that statistically inventor teams slightly outperform solo inventors while company teams perform equally well as solo companies. By tracking the performance record of individual teams, we found that inventor teams’ performance generally degrades with more repeat collaborations. Though company teams’ performance displays strongly bursty behavior, long-term collaboration does not significantly help innovation. To systematically study the effect of repeat collaboration, we defined the repeat collaboration number of a team as the average number of collaborations over all the teammate pairs. We found that mild repeat collaboration improves the performance of Japanese inventor teams and U.S. company teams. Yet, excessive repeat collaboration does not significantly help innovation at both the inventor and company levels in both countries. To control for unobserved heterogeneity, we performed a detailed regression analysis and the results were consistent with our simple observations. The presented results revealed the intricate effect of collaboration on innovation, which may also be observed in other creative projects. PMID:25799138

Revealing the intricate effect of collaboration on innovation.

PubMed

Inoue, Hiroyasu; Liu, Yang-Yu

2015-01-01

We studied the Japan and U.S. patent records of several decades to demonstrate the effect of collaboration on innovation. We found that statistically inventor teams slightly outperform solo inventors while company teams perform equally well as solo companies. By tracking the performance record of individual teams, we found that inventor teams' performance generally degrades with more repeat collaborations. Though company teams' performance displays strongly bursty behavior, long-term collaboration does not significantly help innovation. To systematically study the effect of repeat collaboration, we defined the repeat collaboration number of a team as the average number of collaborations over all the teammate pairs. We found that mild repeat collaboration improves the performance of Japanese inventor teams and U.S. company teams. Yet, excessive repeat collaboration does not significantly help innovation at both the inventor and company levels in both countries. To control for unobserved heterogeneity, we performed a detailed regression analysis and the results were consistent with our simple observations. The presented results revealed the intricate effect of collaboration on innovation, which may also be observed in other creative projects.

Adaptive Servo-Ventilation in "Real Life" Conditions : the OTRLASV Study

ClinicalTrials.gov

2017-03-27

Chronic Heart Failure and; Complex Sleep Apnea Syndrome; Obstructive Sleep Apnea Syndrome and; Idiopathic Central Sleep Apnea Syndrome; Idiopathic Induced Periodic Breathing; Central Sleep Apnea Syndrome

Interprofessional collaborative reasoning by residents and nurses in internal medicine: Evidence from a simulation study.

PubMed

Blondon, K S; Maître, F; Muller-Juge, V; Bochatay, N; Cullati, S; Hudelson, P; Vu, N V; Savoldelli, G L; Nendaz, M R

2017-04-01

Clinical reasoning has been studied in residents or nurses, using interviews or patient-provider encounters. Despite a growing interest in interprofessional collaboration, the notion of collaborative reasoning has not been well studied in clinical settings. Our study aims at exploring resident-nurse collaborative reasoning in a simulation setting. We enrolled 14 resident-nurse teams from a general internal medicine division in a mixed methods study. Teams each managed one of four acute case scenarios, followed by a stimulated-recall session. A qualitative, inductive analysis of the transcripts identified five dimensions of collaborative reasoning: diagnostic reasoning, patient management, patient monitoring, communication with the patient, and team communication. Three investigators (two senior physicians, one nurse) assessed individual and team performances using a five-point Likert scale, and further extracted elements supporting the collaborative reasoning process. Global assessment of the resident-nurse team was not simply an average of individual performances. Qualitative results underlined the need to improve situational awareness, particularly for task overload. Team communication helped team members stay abreast of each other's thoughts and improve their efficiency. Residents and nurses differed in their reasoning processes, and awareness of this difference may contribute to improving interprofessional collaboration. Understanding collaborative reasoning can provide an additional dimension to interprofessional education.

Depression and Dementia in Aging Adults with Down Syndrome: A Case Study Approach.

ERIC Educational Resources Information Center

Sung, Hyunsook; And Others

1997-01-01

A case study of three adults (ages 46-47) with Down syndrome investigated the patterns of symptoms associated with depression and dementia. Characteristics that distinguish between dementia and depression in adults with Down syndrome are described. Periodic comprehensive assessment of adults with Down syndrome to detect functioning changes is…

The opportunity to collaborate increases preschoolers' motivation for challenging tasks.

PubMed

Butler, Lucas P; Walton, Gregory M

2013-12-01

Collaborating on challenging endeavors is a foundation of human society. Recent research suggests that young children are not only motivated to cooperate with others-for instance, to help others accomplish their goals-but may also be motivated to collaborate with others-to pursue shared goals. However, a primary reason why collaboration is so important is because opportunities to collaborate can bring people together to work hard to overcome challenges. Two studies (N=70) tested whether the collaborative nature of an activity itself can cause preschoolers to enjoy challenging tasks more and to persist longer on them. To isolate the psychological feeling of collaboration, we tested this hypothesis by manipulating purely psychological cues of collaboration; in all cases, children worked while physically alone. Both studies found that such cues substantially increased preschoolers' motivation on a challenging puzzle, including their persistence on and liking for the puzzle, relative to two non-collaborative control conditions. We suggest that an early emerging drive to engage in shared collaborative activities leads children to find collaborative activities to be intrinsically motivating. This may represent an important basis of motivation as children embark on formal schooling. Copyright © 2013 Elsevier Inc. All rights reserved.

Brief Report: Repetitive Behaviour Profiles in Williams syndrome: Cross Syndrome Comparisons with Prader-Willi and Down syndromes.

PubMed

Royston, R; Oliver, C; Moss, J; Adams, D; Berg, K; Burbidge, C; Howlin, P; Nelson, L; Stinton, C; Waite, J

2018-01-01

This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome. IQ and adaptive ability were negatively associated with repetitive questioning in people with Williams syndrome. The profile of repetitive behaviour amongst individuals with Williams syndrome was similar to the comparison syndromes. The cognitive mechanisms underlying these behaviours in genetic syndromes warrant further investigation.

Excess Metabolic Syndrome Risks Among Women Health Workers Compared With Men.

PubMed

Adeoye, Abiodun M; Adewoye, Ifeoluwa A; Dairo, David M; Adebiyi, Adewole; Lackland, Daniel T; Ogedegbe, Gbenga; Tayo, Bamidele O

2015-11-01

Metabolic syndrome is associated with higher rates of cardiovascular morbidity and mortality. Although significant disparities in the risks of metabolic syndrome by occupation type and sex are well documented, the factors associated with metabolic syndrome in low- to middle-income countries remain unclear. These gaps in evidence identify the need for patterns of metabolic syndrome among hospital personnel of both sexes in Nigeria. A total of 256 hospital workers comprising 32.8% men were studied. The mean age of the participants was 42.03 ± 9.4 years. Using International Diabetic Federation criteria, the prevalence of metabolic syndrome was 24.2%. Women were substantially and significantly more likely to be identified with metabolic syndrome compared with men (34.9% vs 2.4%, respectively; P=.0001). This study identified metabolic syndrome among health workers with over one third of women with metabolic syndrome compared with <10% of men. These results support the implementation of lifestyle modification programs for management of metabolic syndrome in the health care workplace. © 2015 Wiley Periodicals, Inc.

Integrated analyses for genetic markers of polycystic ovary syndrome with 9 case-control studies of gene expression profiles.

PubMed

Lu, Chenqi; Liu, Xiaoqin; Wang, Lin; Jiang, Ning; Yu, Jun; Zhao, Xiaobo; Hu, Hairong; Zheng, Saihua; Li, Xuelian; Wang, Guiying

2017-01-10

Due to genetic heterogeneity and variable diagnostic criteria, genetic studies of polycystic ovary syndrome are particularly challenging. Furthermore, lack of sufficiently large cohorts limits the identification of susceptibility genes contributing to polycystic ovary syndrome. Here, we carried out a systematic search of studies deposited in the Gene Expression Omnibus database through August 31, 2016. The present analyses included studies with: 1) patients with polycystic ovary syndrome and normal controls, 2) gene expression profiling of messenger RNA, and 3) sufficient data for our analysis. Ultimately, a total of 9 studies with 13 datasets met the inclusion criteria and were performed for the subsequent integrated analyses. Through comprehensive analyses, there were 13 genetic factors overlapped in all datasets and identified as significant specific genes for polycystic ovary syndrome. After quality control assessment, there were six datasets remained. Further gene ontology enrichment and pathway analyses suggested that differentially expressed genes mainly enriched in oocyte pathways. These findings provide potential molecular markers for diagnosis and prognosis of polycystic ovary syndrome, and need in-depth studies on the exact function and mechanism in polycystic ovary syndrome.

Relationship Between Vitamin D Deficiency and Markers of Metabolic Syndrome Among Overweight and Obese Adults.

PubMed

Kaseb, Fatemeh; Haghighyfard, Kimia; Salami, Maryam-Sadat; Ghadiri-Anari, Akram

2017-06-01

In recent years, metabolic syndrome, obesity, diabetes and cardiovascular disease has had a tremendous elevation growth. Many studies have demonstrated negative correlation between vitamin D deficiency and indexes of metabolic syndrome in obese patients. This study was designed to find the relation between vitamin D deficiency and markers of metabolic syndrome among overweight and obese adults referred to obesity center of Shahid Sadoughi hospital in 2014. Eighty-nine overweight and obese adults (79 women and 10 men), who 13 subjects were overweight and 76 subjects were obese were recruited in this cross-sectional study. Total cholesterol, high-density lipoprotein cholesterol, triglyceride, plasma glucose and vitamin D were measured. IDF criteria were used for identifying subjects with metabolic syndrome. Demographic questionnaire was completed. Statistical analysis was performed using SPSS version 16.0. Fisher exact test, logistic regression, and Spearman correlation coefficient were used. The frequency of vitamin D deficiency was 93.2%. According to IDF criteria, the frequency of metabolic syndrome was 36%. There was no significant relationship between vitamin D deficiency and metabolic syndrome. Among metabolic syndrome indicators, there was a significant direct relationship between vitamin D level with FBS (P=0.013) and SBP (P=0.023). There was no significant relationship between vitamin D deficiency and metabolic syndrome. Due to the lack of relationship between vitamin D deficiency and metabolic syndrome, small number of participants in this study and very low case of normal vitamin D level, further studies are needed.

Barriers and facilitators to intraorganizational collaboration in public health: Relational coordination across public health services targeting individuals and populations.

PubMed

McCullough, J Mac; Eisen-Cohen, Eileen; Lott, Breanne

2018-05-09

Modern public health emphasizes population-focused services, which may require collaborative work both across and within organizations. Studies have explored interorganizational collaborations, but there are little data regarding collaborations within public health organizations. We measured intraorganizational collaboration and identified barriers and facilitators to collaboration within a large public health department through a mixed-methods study. Our study occurred at the Maricopa County (Arizona) Department of Public Health, the third largest local public health jurisdiction in the United States. To measure collaboration, we surveyed staff using the relational coordination tool. To identify barriers and facilitators to collaboration, we performed key informant interviews with department personnel. Relational coordination scores varied according to the focus of the service; clinical services had significantly lower levels of relational coordination than population-focused services (p < .01). We found high levels of mutual respect and lower levels of shared knowledge across services. Facilitators to collaboration included purposive cross-program meetings around specific topics, the organization's structure and culture, and individuals' social identities. Barriers included raised expectations for collaboration, low slack resources, member's self-interest, and trust. The relational coordination of services varied significantly according to the focus of the service. Population-focused public health services had higher levels of relational coordination than individually focused services. Collaboration was facilitated and impeded by both well-known and potentially emergent factors, such as purposive cross-service meetings and organizational culture. Population-focused services possessed higher levels of collaboration than individually focused services. Intraorganizational collaboration for improved population health relies on deliberate support from senior management and structured activities to increase shared knowledge and mutual respect.

Collaboration in health technology assessment (EUnetHTA joint action, 2010-2012): four case studies.

PubMed

Huić, Mirjana; Nachtnebel, Anna; Zechmeister, Ingrid; Pasternak, Iris; Wild, Claudia

2013-07-01

The aim of this study was to present the first four collaborative health technology assessment (HTA) processes on health technologies of different types and life cycles targeted toward diverse HTA users and facilitators, as well as the barriers of these collaborations. Retrospective analysis, through four case studies, was performed on the first four collaboration experiences of agencies participating in the EUnetHTA Joint Action project (2010-12), comprising different types and life cycles of health technologies for a diverse target audience, and different types of collaboration. The methods used to initiate collaboration, partner contributions, the assessment methodology, report structure, time frame, and factors acting as possible barriers to and facilitators of this collaboration were described. Two ways were used to initiate collaboration in the first four collaborative HTA processes: active brokering of information, so-called "calls for collaboration," and individual contact between agencies after identifying a topic common to two agencies in the Planned and Ongoing Projects database. Several success factors are recognized: predefined project management, high degree of commitment to the project; adherence to timelines; high relevance of technology; a common understanding of the methods applied and advanced experience in HTA; finally, acceptance of English-written reports by decision makers in non-English-speaking countries. Barriers like late identification of collaborative partners, nonacceptance of English language and different methodology of assessment should be overcome. Timely and efficient, different collaborative HTA processes on relative efficacy/effectiveness and safety on different types and life cycles of health technologies, targeted toward diverse HTA users in Europe are possible. There are still barriers to overcome.

A Collaborative Inquiry to Promote Pedagogical Knowledge of Mathematics in Practice

ERIC Educational Resources Information Center

Moghaddam, Alireza; Sarkar Arani, Mohammad Reza; Kuno, Hiroyuki

2015-01-01

The present study attempts to report a collaborative cycle of professional development in teaching elementary school mathematics through lesson study. It explores a practice of lesson study conducted by teachers aiming to improve their knowledge of pedagogy. The study adopts an ethnographic approach to examine how collaborative teaching within an…

Experiences of nurse practitioners and medical practitioners working in collaborative practice models in primary healthcare in Australia - a multiple case study using mixed methods.

PubMed

Schadewaldt, Verena; McInnes, Elizabeth; Hiller, Janet E; Gardner, Anne

2016-07-29

In 2010 policy changes were introduced to the Australian healthcare system that granted nurse practitioners access to the public health insurance scheme (Medicare) subject to a collaborative arrangement with a medical practitioner. These changes facilitated nurse practitioner practice in primary healthcare settings. This study investigated the experiences and perceptions of nurse practitioners and medical practitioners who worked together under the new policies and aimed to identify enablers of collaborative practice models. A multiple case study of five primary healthcare sites was undertaken, applying mixed methods research. Six nurse practitioners, 13 medical practitioners and three practice managers participated in the study. Data were collected through direct observations, documents and semi-structured interviews as well as questionnaires including validated scales to measure the level of collaboration, satisfaction with collaboration and beliefs in the benefits of collaboration. Thematic analysis was undertaken for qualitative data from interviews, observations and documents, followed by deductive analysis whereby thematic categories were compared to two theoretical models of collaboration. Questionnaire responses were summarised using descriptive statistics. Using the scale measurements, nurse practitioners and medical practitioners reported high levels of collaboration, were highly satisfied with their collaborative relationship and strongly believed that collaboration benefited the patient. The three themes developed from qualitative data showed a more complex and nuanced picture: 1) Structures such as government policy requirements and local infrastructure disadvantaged nurse practitioners financially and professionally in collaborative practice models; 2) Participants experienced the influence and consequences of individual role enactment through the co-existence of overlapping, complementary, traditional and emerging roles, which blurred perceptions of legal liability and reimbursement for shared patient care; 3) Nurse practitioners' and medical practitioners' adjustment to new routines and facilitating the collaborative work relied on the willingness and personal commitment of individuals. Findings of this study suggest that the willingness of practitioners and their individual relationships partially overcame the effect of system restrictions. However, strategic support from healthcare reform decision-makers is needed to strengthen nurse practitioner positions and ensure the sustainability of collaborative practice models in primary healthcare.

The Capgras syndrome in paranoid schizophrenia.

PubMed

Silva, J A; Leong, G B

1992-01-01

Capgras syndrome is characterized by a delusion of impostors who are thought to be physically similar but psychologically distinct from the misidentified person. This syndrome is generally thought to be relatively rare. Most of our knowledge about Capgras syndrome derives from single case studies and small series of cases usually from diagnostically heterogeneous groups. In this article, a series of 31 patients suffering from both paranoid schizophrenia and Capgras syndrome is described. Issues pertaining to the phenomenology of Capgras syndrome, the possible relation between Capgras syndrome and other delusional misidentification syndromes, and a neurobiological hypothesis aimed at explaining Capgras syndrome are discussed.

Relationship between chronic nonurological associated somatic syndromes and symptom severity in urological chronic pelvic pain syndromes: baseline evaluation of the MAPP study.

PubMed

Krieger, John N; Stephens, Alisa J; Landis, J Richard; Clemens, J Quentin; Kreder, Karl; Lai, H Henry; Afari, Niloofar; Rodríguez, Larissa; Schaeffer, Anthony; Mackey, Sean; Andriole, Gerald L; Williams, David A

2015-04-01

We used MAPP data to identify participants with urological chronic pelvic pain syndromes only or a chronic functional nonurological associated somatic syndrome in addition to urological chronic pelvic pain syndromes. We characterized these 2 subgroups and explored them using 3 criteria, including 1) MAPP eligibility criteria, 2) self-reported medical history or 3) RICE criteria. Self-reported cross-sectional data were collected on men and women with urological chronic pelvic pain syndromes, including predominant symptoms, symptom duration and severity, nonurological associated somatic syndrome symptoms and psychosocial factors. Of 424 participants with urological chronic pelvic pain syndromes 162 (38%) had a nonurological associated somatic syndrome, including irritable bowel syndrome in 93 (22%), fibromyalgia in 15 (4%), chronic fatigue syndrome in 13 (3%) and multiple syndromes in 41 (10%). Of 233 females 103 (44%) had a nonurological associated somatic syndrome compared to 59 of 191 males (31%) (p = 0.006). Participants with a nonurological associated somatic syndrome had more severe urological symptoms and more frequent depression and anxiety. Of 424 participants 228 (54%) met RICE criteria. Of 228 RICE positive participants 108 (47%) had a nonurological associated somatic syndrome compared to 54 of 203 RICE negative patients (28%) with a nonurological associated somatic syndrome (p < 0.001). Nonurological associated somatic syndromes represent important clinical characteristics of urological chronic pelvic pain syndromes. Participants with a nonurological associated somatic syndrome have more severe symptoms, longer duration and higher rates of depression and anxiety. RICE positive patients are more likely to have a nonurological associated somatic syndrome and more severe symptoms. Because nonurological associated somatic syndromes are more common in women, future studies must account for this potential confounding factor in urological chronic pelvic pain syndromes. Copyright © 2015 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

It's All About Communication: A Mixed-Methods Approach to Collaboration Between Volunteers and Staff in Pediatric Palliative Care.

PubMed

Meyer, Dorothee; Schmidt, Pia; Zernikow, Boris; Wager, Julia

2018-01-01

Multidisciplinary teamwork is considered central to pediatric palliative care. Although different studies state that volunteers play an essential role in palliative care, little is known about the collaboration between volunteers and staff. This study aims to explore and compare the perspectives of volunteers and staff regarding collaboration in a pediatric palliative care unit. A mixed-methods approach was chosen to appropriately reflect the complex aspects of collaboration. Both face-to-face interviews with staff who work together with volunteers and a group discussion with all volunteers were conducted. These were supplemented by 2 questionnaires designed for this study that examined participants' characteristics and their estimation of what information volunteers need before they meet a patient. Nine staff members and 7 volunteers participated in this study. Their ideas of collaboration could be grouped into 3 categories: (i) factual level of collaboration, (ii) relationship level of collaboration, and (iii) overall appraisal of collaboration (suggestions for improvement). Communication can be considered a key factor in successful collaboration between volunteers and staff. Because many patients in pediatric palliative care units are not able to communicate verbally, good information flow between volunteers and staff is crucial for ensuring quality patient care. Moreover, communication is the key to establishing a team philosophy by clarifying roles and building relationships between volunteers and staff.

An Exploration of the Use of Eye Gaze and Gestures in Females with Rett Syndrome

ERIC Educational Resources Information Center

Urbanowicz, Anna; Downs, Jenny; Girdler, Sonya; Ciccone, Natalie; Leonard, Helen

2016-01-01

Purpose: This study investigated the communicative use of eye gaze and gestures in females with Rett syndrome. Method: Data on 151 females with Rett syndrome participating in the Australian Rett Syndrome Database was used in this study. Items from the Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist…

Prevalence of metabolic syndrome in Chinese psoriasis patients: A hospital-based cross-sectional study.

PubMed

Gui, Xin-Yu; Yu, Xiao-Ling; Jin, Hong-Zhong; Zuo, Ya-Gang; Wu, Chao

2018-01-01

Psoriasis, a chronic autoimmune skin disorder, is believed to contribute to cardiovascular diseases and metabolic syndrome. Psoriasis's association with the components of metabolic syndrome has been reported previously. However, large-scale cross-sectional studies about psoriasis and metabolic syndrome are rare in China. We assessed the prevalence of metabolic syndrome in Chinese psoriasis patients and controls. A total of 859 psoriasis patients and 1,718 controls were recruited in an age- and sex-matched cross-sectional study. Metabolic syndrome occurred in 14.3% of the psoriasis patients as opposed to 10.0% of the control participants (P = 0.001). Psoriasis patients had a higher prevalence of overweight/obesity, hyperglycemia and dyslipidemia when compared with controls. Meanwhile, psoriasis patients with metabolic syndrome were older, and had an older age of onset and a longer disease duration when compared with those without metabolic syndrome. The prevalence of metabolic syndrome is higher in the Chinese psoriatic population, which can favor cardiovascular events. The present study strengthens the value of treating psoriasis patients not only dealing with the skin lesions, and we suggest appropriate screening and relevant health education be carried out in the treatment of psoriasis patients. © 2017 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd.

Dietary Magnesium Intake and Metabolic Syndrome in the Adult Population: Dose-Response Meta-Analysis and Meta-Regression

PubMed Central

Ju, Sang-Yhun; Choi, Whan-Seok; Ock, Sun-Myeong; Kim, Chul-Min; Kim, Do-Hoon

2014-01-01

Increasing evidence has suggested an association between dietary magnesium intake and metabolic syndrome. However, previous research examining dietary magnesium intake and metabolic syndrome has produced mixed results. Our objective was to determine the relationship between dietary magnesium intake and metabolic syndrome in the adult population using a dose-response meta-analysis. We searched the PubMed, Embase and the Cochrane Library databases from August, 1965, to May, 2014. Observational studies reporting risk ratios with 95% confidence intervals (CIs) for metabolic syndrome in ≥3 categories of dietary magnesium intake levels were selected. The data extraction was performed independently by two authors, and the quality of the studies was evaluated using the Risk of Bias Assessment Tool for Nonrandomized Studies (RoBANS). Based on eight cross-sectional studies and two prospective cohort studies, the pooled relative risks of metabolic syndrome per 150 mg/day increment in magnesium intake was 0.88 (95% CI, 0.84–0.93; I2 = 36.3%). The meta-regression model showed a generally linear, inverse relationship between magnesium intake (mg/day) and metabolic syndrome. This dose-response meta-analysis indicates that dietary magnesium intake is significantly and inversely associated with the risk of metabolic syndrome. However, randomized clinical trials will be necessary to address the issue of causality and to determine whether magnesium supplementation is effective for the prevention of metabolic syndrome. PMID:25533010

DNA mismatch repair protein deficient non-neoplastic colonic crypts: a novel indicator of Lynch syndrome.

PubMed

Pai, Rish K; Dudley, Beth; Karloski, Eve; Brand, Randall E; O'Callaghan, Neil; Rosty, Christophe; Buchanan, Daniel D; Jenkins, Mark A; Thibodeau, Stephen N; French, Amy J; Lindor, Noralane M; Pai, Reetesh K

2018-06-08

Lynch syndrome is the most common form of hereditary colorectal carcinoma. However, establishing the diagnosis of Lynch syndrome is challenging, and ancillary studies that distinguish between sporadic DNA mismatch repair (MMR) protein deficiency and Lynch syndrome are needed, particularly when germline mutation studies are inconclusive. The aim of this study was to determine if MMR protein-deficient non-neoplastic intestinal crypts can help distinguish between patients with and without Lynch syndrome. We evaluated the expression of MMR proteins in non-neoplastic intestinal mucosa obtained from colorectal surgical resection specimens from patients with Lynch syndrome-associated colorectal carcinoma (n = 52) and patients with colorectal carcinoma without evidence of Lynch syndrome (n = 70), including sporadic MMR protein-deficient colorectal carcinoma (n = 30), MMR protein proficient colorectal carcinoma (n = 30), and "Lynch-like" syndrome (n = 10). MMR protein-deficient non-neoplastic colonic crypts were identified in 19 of 122 (16%) patients. MMR protein-deficient colonic crypts were identified in 18 of 52 (35%) patients with Lynch syndrome compared to only 1 of 70 (1%) patients without Lynch syndrome (p < 0.001). This one patient had "Lynch-like" syndrome and harbored two MSH2-deficient non-neoplastic colonic crypts. MMR protein-deficient non-neoplastic colonic crypts were not identified in patients with sporadic MMR protein-deficient or MMR protein proficient colorectal carcinoma. Our findings suggest that MMR protein-deficient colonic crypts are a novel indicator of Lynch syndrome, and evaluation for MMR protein-deficient crypts may be a helpful addition to Lynch syndrome diagnostics.

Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway.

PubMed

Allanson, Judith E

2016-10-01

Noonan, Cardio-facio-cutaneous, and Costello syndromes are disorders of the Ras/MAPK pathway that share many clinical features. This observational and anthropometric study was conducted to describe the key facial features of each syndrome in order to improve discrimination between the three conditions, particularly in young children where diagnosis is most challenging. Direct measurement of the head and face was used to enhance diagnostic accuracy, and identify the most unusual or specific dimensions. The Noonan syndrome cohort included 123 individuals, aged 6 months to 41 years. There were 20 children and adolescents with Cardio-facio-cutaneous syndrome, and 28 individuals with Costello syndrome, aged 1-32 years. The facial phenotypes of these syndromes, particularly Noonan syndrome, are well-described but objective data have not been published in peer-reviewed literature. In this study, subjective observations, in the main, were validated by anthropometry with one exception. In individuals with Costello syndrome, mouth width was normal, thus the impression of wide mouth is likely due to full lips or the mouth being viewed in relation to a narrow lower face. When the three conditions were compared objectively, syndrome-specific pattern profiles showed high concordance in early life. At older ages, Cardio-facio-cutaneous syndrome was distinguished by increased width of the mid/lower face, and reduced growth of maxillary and mandibular dimensions was noted in both Noonan and Costello syndromes. Despite substantial similarities in face shape in older individuals with these two conditions, bulbous nasal tip, full lips, and an apparently wide mouth in those with Costello Syndrome facilitate discrimination from Noonan syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

A Case Study of a Collaborative Speech-Language Pathologist

ERIC Educational Resources Information Center

Ritzman, Mitzi J.; Sanger, Dixie; Coufal, Kathy L.

2006-01-01

This study explored how a school-based speech-language pathologist implemented a classroom-based service delivery model that focused on collaborative practices in classroom settings. The study used ethnographic observations and interviews with 1 speech-language pathologist to provide insights into how she implemented collaborative consultation and…

Problem Finding in Professional Learning Communities: A Learning Study Approach

ERIC Educational Resources Information Center

Tan, Yuen Sze Michelle; Caleon, Imelda Santos

2016-01-01

This study marries collaborative problem solving and learning study in understanding the onset of a cycle of teacher professional development process within school-based professional learning communities (PLCs). It aimed to explore how a PLC carried out collaborative problem finding--a key process involved in collaborative problem solving--that…

Building Collaborative Research Opportunities into Study Abroad Programs: A Case Study from Panama

ERIC Educational Resources Information Center

Solís, Patricia; Price, Marie; Adames de Newbill, María

2015-01-01

As universities increase their international study opportunities, enormous potential exists to create geography field courses that provide undergraduates and graduate students with primary research experience and intercultural collaboration. This paper draws from our experience leading a two-week collaborative field course in Panama. We outline…

Students' Activity in Computer-Supported Collaborative Problem Solving in Mathematics

ERIC Educational Resources Information Center

Hurme, Tarja-riitta; Jarvela, Sanna

2005-01-01

The purpose of this study was to analyse secondary school students' (N = 16) computer-supported collaborative mathematical problem solving. The problem addressed in the study was: What kinds of metacognitive processes appear during computer-supported collaborative learning in mathematics? Another aim of the study was to consider the applicability…

Nurse-physician collaboration impacts job satisfaction and turnover among nurses: A hospital-based cross-sectional study in Beijing.

PubMed

Zhang, Lin; Huang, Lei; Liu, Meng; Yan, Hong; Li, Xiue

2016-06-01

This study aims to explore the impact of physician-nurse collaboration on nurse job satisfaction and turnover in a dental hospital. Physician-nurse collaboration is important for the stability of the entire nursing team. Few studies have shown the impact on job satisfaction and turnover among nurses working in Chinese dental hospitals. This was a prospective, cross-sectional study and investigated nurses from a tertiary dental hospital in Beijing using convenience non-randomized sampling. A structured questionnaire was used to collect data, which included general information, the Index of Work Satisfaction, the Nurse-Physician Collaboration Scale and the Turnover Intention Scale. The scores of physician-nurse collaboration correlated positively with those for job satisfaction and negatively with the stated likelihood of turnover intention. Physician-nurse collaboration scores positively predicted job satisfaction and negatively predicted the likelihood of quitting the current job. In conclusion, improving the level of physician-nurse collaboration is helpful to enhance job satisfaction and reduce turnover among nurses in a dental hospital. © 2016 John Wiley & Sons Australia, Ltd.

Neuroligins Provide Molecular Links Between Syndromic and Non-Syndromic Autism

PubMed Central

Singh, Sandeep K.; Eroglu, Cagla

2014-01-01

Autism is a common and heritable neuropsychiatric disorder that can be categorized into two types: syndromic and non-syndromic, the former of which are associated with other neurological disorders or syndromes. Molecular and functional links between syndromic and non-syndromic autism genes were lacking until studies aimed at understanding role of trans-synaptic adhesion molecule neuroligin, which is associated with non-syndromic autism, provided important connections. Here, we integrate data from these studies into a model of how neuroligin functions to control synaptic connectivity in the central nervous system and how neuroligin dysfunction may participate in the pathophysiology of autism. Understanding the complex functional interactions between neuroligins and other autism-associated proteins at the synapse is crucial to understand the pathology of autism. This understanding might bring us closer to development of therapeutic approaches for autism. PMID:23838185

Social Network Analysis of Biomedical Research Collaboration Networks in a CTSA Institution

PubMed Central

Bian, Jiang; Xie, Mengjun; Topaloglu, Umit; Hudson, Teresa; Eswaran, Hari; Hogan, William

2014-01-01

BACKGROUND The popularity of social networks has triggered a number of research efforts on network analyses of research collaborations in the Clinical and Translational Science Award (CTSA) community. Those studies mainly focus on the general understanding of collaboration networks by measuring common network metrics. More fundamental questions about collaborations still remain unanswered such as recognizing “influential” nodes and identifying potential new collaborations that are most rewarding. METHODS We analyzed biomedical research collaboration networks (RCNs) constructed from a dataset of research grants collected at a CTSA institution (i.e. University of Arkansas for Medical Sciences (UAMS)) in a comprehensive and systematic manner. First, our analysis covers the full spectrum of a RCN study: from network modeling to network characteristics measurement, from key nodes recognition to potential links (collaborations) suggestion. Second, our analysis employs non-conventional model and techniques including a weighted network model for representing collaboration strength, rank aggregation for detecting important nodes, and Random Walk with Restart (RWR) for suggesting new research collaborations. RESULTS By applying our models and techniques to RCNs at UAMS prior to and after the CTSA, we have gained valuable insights that not only reveal the temporal evolution of the network dynamics but also assess the effectiveness of the CTSA and its impact on a research institution. We find that collaboration networks at UAMS are not scale-free but small-world. Quantitative measures have been obtained to evident that the RCNs at UAMS are moving towards favoring multidisciplinary research. Moreover, our link prediction model creates the basis of collaboration recommendations with an impressive accuracy (AUC: 0.990, MAP@3: 1.48 and MAP@5: 1.522). Last but not least, an open-source visual analytical tool for RCNs is being developed and released through Github. CONCLUSIONS Through this study, we have developed a set of techniques and tools for analyzing research collaboration networks and conducted a comprehensive case study focusing on a CTSA institution. Our findings demonstrate the promising future of these techniques and tools in understanding the generative mechanisms of research collaborations and helping identify beneficial collaborations to members in the research community. PMID:24560679

Addressing challenging behaviour in children with Down syndrome: the use of applied behaviour analysis for assessment and intervention.

PubMed

Feeley, Kathleen M; Jones, Emily A

2006-09-01

Children with Down syndrome are at an increased risk for engaging in challenging behaviour that may be part of a behavioural phenotype characteristic of Down syndrome. The methodology of applied behaviour analysis has been demonstrated effective with a wide range of challenging behaviours, across various disabilities. Applications to children with Down syndrome and the examination of behaviourally based strategies to specifically address the unique characteristics of children with Down syndrome are limited. However, there are several studies in which a subset of the participants did have Down syndrome. A handful of these studies are reviewed within the context of functional behaviour assessment and Positive Behavioural Supports. Drawing from these studies and the behavioural literature, as well as the authors' clinical experience and research, suggestions regarding early intervention for challenging behaviour with children with Down syndrome are provided.

Clinicopathologic, Immunohistochemical, and Molecular Features of Histiocytoid Sweet Syndrome.

PubMed

Alegría-Landa, Victoria; Rodríguez-Pinilla, Socorro María; Santos-Briz, Angel; Rodríguez-Peralto, José Luis; Alegre, Victor; Cerroni, Lorenzo; Kutzner, Heinz; Requena, Luis

2017-07-01

Histiocytoid Sweet syndrome is a rare histopathologic variant of Sweet syndrome. The nature of the histiocytoid infiltrate has generated considerable controversy in the literature. The main goal of this study was to conduct a comprehensive overview of the immunohistochemical phenotype of the infiltrate in histiocytoid Sweet syndrome. We also analyze whether this variant of Sweet syndrome is more frequently associated with hematologic malignancies than classic Sweet syndrome. This is a retrospective case series study of the clinicopathologic, immunohistochemical, and molecular features of 33 patients with a clinicopathologic diagnosis of histiocytoid Sweet syndrome was conducted in the dermatology departments of 5 university hospitals and a private laboratory of dermatopathology. The clinical, histopathological, immunohistochemical, and follow-up features of 33 patients with histiocytoid Sweet syndrome were analyzed. In some cases, cytogenetic studies of the dermal infiltrate were also performed. We compare our findings with those of the literature. The dermal infiltrate from the 33 study patients (20 female; median age, 49 years; age range, 5-93 years; and 13 male; median age, 42 years; age range, 4-76 years) was mainly composed of myeloperoxidase-positive immature myelomonocytic cells with histiocytoid morphology. No cytogenetic anomalies were found in the infiltrate except in 1 case in which neoplastic cells of chronic myelogenous leukemia were intermingled with the cells of histiocytoid Sweet syndrome. Authentic histiocytes were also found in most cases, with a mature immunoprofile, but they appeared to be a minor component of the infiltrate. Histiocytoid Sweet syndrome was not more frequently related with hematologic malignancies than classic neutrophilic Sweet syndrome. The dermal infiltrate of cutaneous lesions of histiocytoid Sweet syndrome is composed mostly of immature cells of myeloid lineage. This infiltrate should not be interpreted as leukemia cutis.

Magnitude and management of metabolic syndrome in Spain in 2008-2010: the ENRICA study.

PubMed

Guallar-Castillón, Pilar; Pérez, Raúl Francisco; López García, Esther; León-Muñoz, Luz M; Aguilera, M Teresa; Graciani, Auxiliadora; Gutiérrez-Fisac, Juan Luis; Banegas, José R; Rodríguez-Artalejo, Fernando

2014-05-01

Few studies in Spain have reported the distribution of metabolic syndrome using the harmonized definition and that of premorbid metabolic syndrome, which consists of metabolic syndrome without diabetes mellitus or cardiovascular disease. Moreover, their regional distributions and clinical management are unknown. The present study examined the distributions and clinical management of both syndromes in Spain. This cross-sectional study was performed from 2008 to 2010 in 11 149 representative individuals of the Spanish population aged 18 years or older. Data were obtained through standardized physical examination, and analytical measurements were done in a central laboratory. The prevalences (95% confidence interval) of metabolic syndrome and premorbid metabolic syndrome were 22.7% (21.7%-23.7%) and 16.9% (16.0%-17.8%), respectively. The frequency of both syndromes increased with age and was higher in men than in women up to 65 years; above this age, the frequency was higher in women. The communities of the south of Spain and the Balearic and Canary islands had the highest prevalence of both syndromes, in some regions reaching double that of the community with the lowest prevalence. About one third of patients with premorbid metabolic syndrome reported that they had not received health recommendations to improve their lifestyles; of those that did receive advice, adherence was low, particularly for reducing weight (31.9%) and salt intake (38.3%). The prevalence of metabolic syndrome is high in Spain and considerable geographical differences exist in its distribution. There is substantial room for improvement in the clinical management of premorbid metabolic syndrome. Copyright © 2013 Sociedad Española de Cardiología. Published by Elsevier Espana. All rights reserved.

Primary Ovarian Insufficiency (POI)

MedlinePlus

... Research Information Find a Study Resources and Publications Turner Syndrome Condition Information NICHD Research Information Find a Study ... site for more information. Most women who have Turner syndrome develop POI. Turner syndrome is a condition in ...

Headache in Behçet's syndrome: review of literature and NYU Behçet's syndrome center experience.

PubMed

Vishwanath, Vijay; Wong, Ericka; Crystal, Sara C; Robbins, Matthew S; Filopoulos, Maria; Lipton, Richard B; Yazici, Yusuf; Kister, Ilya

2014-09-01

Headache, a common and disabling symptom in Behçet's syndrome, may be associated with a variety of neurologic syndromes and ocular inflammation, or may present as an isolated feature. Our objective is to describe the various neurologic and ocular syndromes of Behçet's syndrome of which headache is a symptom, and to review the features of isolated headaches in Behçet's. We also report results of a study of headache in Behçet's syndrome patients who are followed at NYU Hospital for Joint Diseases, the first study of its kind in North American patients, and the first to document prevalence of both episodic and chronic daily headache in Behçet's.

The motivations, institutions and organization of university-industry collaborations in the Netherlands.

PubMed

Bodas Freitas, Isabel Maria; Verspagen, Bart

2017-01-01

This study builds on the economics and organization literatures to explore whether and how institutions and organizational structure complement or substitute each other to create specific spaces of alignment where specific individual actors' motivations co-exist. Focusing on university-industry collaborations, the study examines whether and how different axes of alignment of university and industry motivations are integrated in projects with specific technological objectives and organizational structures, benefitting from the presence of specific institutions designed to facilitate collaboration. Empirically, the study relies on in-depth data on 30 university-industry collaborations in the Netherlands, and provides preliminary evidence that the technological objective and organizational structure of collaboration are malleable variables allowing the integration of both partners' objectives and expectations. Different institutional incentives for university-industry collaboration favor specific axes of alignment of motivations and certain types of collaborative projects' design. Hence, our exploratory results suggest that specific organizational and technological structures tend to prevail in the presence of specific institutions.

Measurement and evaluation practices of factors that contribute to effective health promotion collaboration functioning: A scoping review.

PubMed

Stolp, Sean; Bottorff, Joan L; Seaton, Cherisse L; Jones-Bricker, Margaret; Oliffe, John L; Johnson, Steven T; Errey, Sally; Medhurst, Kerensa; Lamont, Sonia

2017-04-01

The purpose of this scoping review was to identify promising factors that underpin effective health promotion collaborations, measurement approaches, and evaluation practices. Measurement approaches and evaluation practices employed in 14 English-language articles published between January 2001 and October 2015 were considered. Data extraction included research design, health focus of the collaboration, factors being evaluated, how factors were conceptualized and measured, and outcome measures. Studies were methodologically diverse employing either quantitative methods (n=9), mixed methods (n=4), or qualitative methods (n=1). In total, these 14 studies examined 113 factors, 88 of which were only measured once. Leadership was the most commonly studied factor but was conceptualized differently across studies. Six factors were significantly associated with outcome measures across studies; leadership (n=3), gender (n=2), trust (n=2), length of the collaboration (n=2), budget (n=2) and changes in organizational model (n=2). Since factors were often conceptualized differently, drawing conclusions about their impact on collaborative functioning remains difficult. The use of reliable and validated tools would strengthen evaluation of health promotion collaborations and would support and enhance the effectiveness of collaboration. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

Comparing the Broad Socio-Cognitive Profile of Youth with Williams Syndrome and 22Q11.2 Deletion Syndrome

ERIC Educational Resources Information Center

Weisman, O.; Feldman, R.; Burg-Malki, M.; Keren, M.; Geva, R.; Diesendruck, G.; Gothelf, D.

2017-01-01

Background: Numerous studies have assessed the socio-cognitive profile in Williams syndrome (WS) and, independently, in 22q11.2 deletion syndrome (22q11.2DS). Yet, a cross-syndrome comparison of these abilities between individuals with these two syndromes with known social deficits has not been conducted. Methods: Eighty-two children participated…

A Cross-Syndrome Study of the Development of Holistic Face Recognition in Children with Autism, Down Syndrome, and Williams Syndrome

ERIC Educational Resources Information Center

Annaz, Dagmara; Karmiloff-Smith, Annette; Johnson, Mark H.; Thomas, Michael S. C.

2009-01-01

We report a cross-syndrome comparison of the development of holistic processing in face recognition in school-aged children with developmental disorders: autism, Down syndrome, and Williams syndrome. The autism group was split into two groups: one with high-functioning children and one with low-functioning children. The latter group has rarely…

Collaborative Behavioral Management for Drug-Involved Parolees: Rationale and Design of the Step'n Out Study

ERIC Educational Resources Information Center

Friedmann, Peter D.; Katz, Elizabeth C.; Rhodes, Anne G.; Taxman, Faye S.; O'Connell, Daniel J.; Frisman, Linda K.; Burdon, William M.; Fletcher, Bennett W.; Litt, Mark D.; Clarke, Jennifer; Martin, Steven S.

2008-01-01

This article describes the rationale, study design, and implementation for the Step'n Out study of the Criminal Justice Drug Abuse Treatment Studies. Step'n Out tests the relative effectiveness of collaborative behavioral management of drug-involved parolees. Collaborative behavioral management integrates the roles of parole officers and treatment…

Association of Serum Uric Acid With Cardiometabolic Risk Factors and Metabolic Syndrome in Iranian Adolescents: the CASPIAN-III Study.

PubMed

Safiri, Saeid; Qorbani, Mostafa; Heshmat, Ramin; Tajbakhsh, Ramin; Eslami Shahr Babaki, Amir; Djalalinia, Shirin; Motlagh, Mohammad Esmaeil; Tajadini, Mohammad Hasan; Asayesh, Hamid; Safari, Omid; Kelishadi, Roya

2016-05-01

There is controversial evidence on association of serum acid uric (SUA) with cardiometabolic risk factors and metabolic syndrome in adults. This study aimed to investigate the associations of SUA levels, components of metabolic syndrome, and other cardiometabolic risk factors, in a nationally representative sample of Iranian adolescents. This study included 132 participants who met the criteria of metabolic syndrome and 235 participants without metabolic syndrome. The participants were grouped according to the tertiles of SUA. Metabolic syndrome was defined according to the Adult Treatment Panel III criteria modified for children and adolescents. The relationship between SUA and cardiometabolic risk factors and metabolic syndrome was assessed by multivariable logistic regression analysis. The mean age of the participants was 15.21 ± 2.35 years, with no significant difference between the boys and the girls. The participants whose SUA was categorized in the 2nd tertile and those falling into the 3rd tertile had significantly higher systolic blood pressure (P < .001) as compared with the lower tertile(s). A similar trend was documented for the overall high blood pressure. Metabolic syndrome was associated with the 2nd and 3rd tertiles of SUA as compared to the lower tertile(s), in the adjusted model (P < .001), with the risk increasing by at least 2 times. Our study showed that those adolescents with metabolic syndrome had higher SUA levels. Its association with some components of metabolic syndrome supports that SUA might be an additional component of metabolic syndrome even during adolescence.

Prevalence of metabolic syndrome in Middle-East countries: Meta-analysis of cross-sectional studies.

PubMed

Ansarimoghaddam, Alireza; Adineh, Hosein Ali; Zareban, Iraj; Iranpour, Sohrab; HosseinZadeh, Ali; Kh, Framanfarma

Metabolic syndrome is an important metabolic disorder which impose noticeable burden on health system. We aimed to review and imply the prevalence of it in Middle-East countries. present study was a systematic review to present overview about metabolic disorder in Middle East. Electronic literature search of Medline database and Google scholar were done for English-language articles without time filtering, as well as for population-based or national studies of the prevalence of metabolic syndrome. The fallowing search terms were used simultaneously: prevalence of " metabolic syndrome" and "national study", "prevalence of metabolic syndrome in Middle East", "prevalence of metabolic syndrome" and "name of country", "metabolic syndrome &name of country". Additionally, relevant articles in bibliography were searched. Analysis of data was carried out in STATA version 11.0. out of 456 studies in first-step searching (selecting by title) 59 studies were recruited and reviewed. Prevalence of metabolic syndrome fluctuated by country and time of study. This amount was 2.2-44% in Turkish, 16-41% in Saudi-Arabia, 14-63 in Pakistan, 26-33 in Qatar, 9-36 in Kuwait, 22-50 in Emirate, 6-42 in Iran, and up to 23 in Yemen. Pooled estimate was 25%. Attributable risk for cardiovascular disease, coronary heart disease, and stroke was 15.87, 11.7, and 16.23, respectively. The prevalence rate of metabolic syndrome is high and it is noticeable cause for stroke, coronary heart disease, and cardiovascular disease. Copyright © 2017 Diabetes India. Published by Elsevier Ltd. All rights reserved.

Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome.

PubMed

Wineland, Andre; Menezes, Maithilee D; Shimony, Joshua S; Shinawi, Marwan S; Hullar, Timothy E; Hirose, Keiko

2017-02-01

CHARGE syndrome refers to a syndrome involving coloboma, heart defects, atresia choanae, retardation of growth and development, genitourinary disorders, and ear anomalies. However, Verloes revised the characteristics of CHARGE syndrome in 2005 to define this syndrome more broadly. Deficiency of the semicircular canals is now a major criterion for CHARGE syndrome. To characterize patients with CHARGE syndrome at our center using Verloes' criteria and to reevaluate the nomenclature for this condition. We performed a medical chart review of patients with CHARGE syndrome and reviewed their temporal bone imaging studies at a tertiary care children's hospital affiliated with Washington University in St Louis. Two authors independently reviewed each imaging study (A.W. and K.H.). Radiologic studies, physical findings, genetic tests, and other diagnostic tests were included. Patients with no temporal bone imaging studies were excluded. Eighteen children were included in this study; 13 children (72%) were male, and the mean (median; range) age of patients at the time of inner ear imaging studies was 2 years (4.5 years; 8 months to 8 years). Coloboma was present in 13 patients (72%) and choanal atresia in 5 (28%); semicircular canal anomalies were present in all patients. Additionally, 13 patients (72%) were diagnosed as having hindbrain anomalies, 17 (94%) as having endocrine disorders, 17 (94%) as having mediastinal organ malformations, and all as having middle or external ear abnormalities and development delay. Cleft lip and cleft palate were found in 6 of 14 patients (43%) who did not have choanal atresia. We tested 16 patients for mutations in the CHD7 gene; 10 were positive (63%) for mutations, 4 (25%) were negative, and 2 (13%) were inconclusive. Semicircular canal anomalies were the most consistent finding in our patients with CHARGE syndrome. Given the high prevalence of semicircular canal hypoplasia and importance of imaging for diagnosing CHARGE syndrome, we propose changing the term CHARGE syndrome to 3C syndrome to emphasize the importance of the semicircular canals and to recall the 3 major criteria for diagnosis: coloboma, choanal atresia, and semicircular canal anomaly. The nomenclature would also reference the 3 semicircular canals in each ear. This new name for CHARGE syndrome would provide a mnemonic and focus the disease on the most important clinical criteria for diagnosis.

Midwife-physician collaboration: a conceptual framework for interprofessional collaborative practice.

PubMed

Smith, Denise Colter

2015-01-01

Since the passage of the Affordable Care Act, collaborative practice has been cited as one method of increasing access to care, decreasing costs, and improving efficiency. How and under what conditions might these goals be achieved? Midwives and physicians have built effective collaborative practice models over a period of 30 years. Empirical study of interprofessional collaboration between midwives and physicians could be useful in guiding professional education, regulation, and health policy in women's health and maternity care. Construction of a conceptual framework for interprofessional collaboration between midwives and physicians was guided by a review of the literature. A theory derivation strategy was used to define dimensions, concepts, and statements of the framework. Midwife-physician interprofessional collaboration can be defined by 4 dimensions (organizational, procedural, relational, and contextual) and 12 concepts (trust, shared power, synergy, commitment, and respect, among others). The constructed framework provides the foundation for further empirical study of the interprofessional collaborative process. The experiences of midwife-physician collaborations provide solid support for a conceptual framework of the collaborative process. A conceptual framework provides a point from which further research can increase knowledge and understanding about how successful outcomes are achieved in collaborative health care practices. Construction of a measurement scale and validation of the model are important next steps. © 2014 by the American College of Nurse-Midwives.

Dynamic analysis of interhospital collaboration and competition: empirical evidence from an Italian regional health system.

PubMed

Mascia, Daniele; Di Vincenzo, Fausto; Cicchetti, Americo

2012-05-01

Policymakers stimulate competition in universalistic health-care systems while encouraging the formation of service provision networks among hospital organizations. This article addresses a gap in the extant literature by empirically analyzing simultaneous collaboration and competition between hospitals within the Italian National Health Service, where important procompetition reforms have been implemented. To explore how rising competition between hospitals relates to their propensity to collaborate with other local providers. Longitudinal data on interhospital collaboration and competition collected in an Italian region from 2003 to 2007 are analyzed. Social network analysis techniques are applied to study the structure and dynamics of interhospital collaboration. Negative binomial regressions are employed to explore how interhospital competition relates to the collaborative network over time. Competition among providers does not hinder interhospital collaboration. Collaboration is primarily local, with resource complementarity and differentials in the volume of activity and hospital performance explaining the propensity to collaborate. Formation of collaborative networks among hospitals is not hampered by reforms aimed at fostering market forces. Because procompetition reforms elicit peculiar forms of managed competition in universalistic health systems, studies are needed to clarify whether the positive association between interhospital competition and collaboration can be generalized to other health-care settings. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Supporting awareness through collaborative brushing and linking of tabular data.

PubMed

Hajizadeh, Amir Hossein; Tory, Melanie; Leung, Rock

2013-12-01

Maintaining an awareness of collaborators' actions is critical during collaborative work, including during collaborative visualization activities. Particularly when collaborators are located at a distance, it is important to know what everyone is working on in order to avoid duplication of effort, share relevant results in a timely manner and build upon each other's results. Can a person's brushing actions provide an indication of their queries and interests in a data set? Can these actions be revealed to a collaborator without substantially disrupting their own independent work? We designed a study to answer these questions in the context of distributed collaborative visualization of tabular data. Participants in our study worked independently to answer questions about a tabular data set, while simultaneously viewing brushing actions of a fictitious collaborator, shown directly within a shared workspace. We compared three methods of presenting the collaborator's actions: brushing & linking (i.e. highlighting exactly what the collaborator would see), selection (i.e. showing only a selected item), and persistent selection (i.e. showing only selected items but having them persist for some time). Our results demonstrated that persistent selection enabled some awareness of the collaborator's activities while causing minimal interference with independent work. Other techniques were less effective at providing awareness, and brushing & linking caused substantial interference. These findings suggest promise for the idea of exploiting natural brushing actions to provide awareness in collaborative work.

Assessment of metabolic syndrome in Kashmiri population with type 2 diabetes employing the standard criteria's given by WHO, NCEPATP III and IDF.

PubMed

Lone, Shafat; Lone, Kouser; Khan, Saika; Pampori, Rafiq Ahmed

2017-12-01

Around 20-25 percent of the world's adult populations have the metabolic syndrome and they are twice as likely to die from heart attack or stroke compared with people without the syndrome. The World Health Organization proposed a definition for the metabolic syndrome in 1998 and later on NCEP ATPIII and IDF provided new definitions of this syndrome in 2001 and 2003 respectively. Very few studies have compared the different definitions to diagnose the metabolic syndrome in type two diabetics in India while as for Kashmir valley no such documented study has been carried out till date. To study the prevalence of metabolic syndrome in type 2 Kashmir diabetics and to find out the degree of agreement between three different criteria given by WHO, NCEPATPIII and IDF for diagnosis of metabolic syndrome. A cross sectional study was conducted in one of the two tertiary care hospitals of Kashmir, India. About 1000 patients were selected and their demographic, clinical and biochemical parameters were studied after obtaining informed consent from each patient. Prevalance of metabolic syndrome was found to be highest(84.5%) while using WHO definition.Kappa statistic between WHO, ATP III and WHO, IDF definitions was 0.697 (95% CI 0.637-0.754) and 0.775 (95%CI 0.72-0.82) respectively while the degree of agreement between IDF and ATP III definitions was highest with kappa of 0.851 (95%CI 0.810-0.889). Our study warrants for interventions to prevent the progression towards this syndrome among type 2 diabetics as early as the diagnosis of diabetes is made. Copyright © 2017 Ministry of Health, Saudi Arabia. Published by Elsevier Ltd. All rights reserved.

Relationship between metabolic syndrome and its components with bone densitometry in postmenopausal women.

PubMed

Abbasi, Mahnaz; Farzam, Seyed Amir; Mamaghani, Zahra; Yazdi, Zohreh

2017-11-01

Prevention of osteoporosis and bone fracture and the relationship between metabolic syndrome and bone density are controversial issues. The aim of this study was to evaluate the association between metabolic syndrome and its components with bone mineral density in post menopausal women referred for bone mineral density (BMD) test. A total of 143 postmenopausal women with at least one year of menopause experience participated in this cross-sectional study. Demographic and anthropometric characteristics for all participants were collected. Also, biochemical parameters including fasting blood sugar, Cholesterol (HDL and LDL), triglyceride were measured. Association between the components of metabolic syndrome and bone densitometry were analyzed by statistical methods. In this study, 72% of participants did not have metabolic syndrome. Among them, 43.4% and 28.7% had osteoporosis and normal density, respectively. Of remaining participants with metabolic syndrome, 12.6% and 15.4% had osteoporosis and normal density, respectively. Among the metabolic syndrome components, waist circumference, HDL cholesterol, and waist to hip ratio were significantly associated with bone mass (P<0.05). Osteoporotic women had lower waist circumference and waist to hip ratio and higher HDL than women without osteoporosis. On the other hand, women with metabolic syndrome did not have significant differences than women without metabolic syndrome in terms of lumbar and femoral neck density (P>0.05). Results from this study showed that metabolic syndrome and its components did not induce bone mass loss. The discrepancies of the studies in this area call for more large scale studies in population so as to prevent women problems in this area. Copyright © 2016 Diabetes India. Published by Elsevier Ltd. All rights reserved.

Association of Sedentary Behaviour with Metabolic Syndrome: A Meta-Analysis

PubMed Central

Edwardson, Charlotte L.; Gorely, Trish; Davies, Melanie J.; Gray, Laura J.; Khunti, Kamlesh; Wilmot, Emma G.; Yates, Thomas; Biddle, Stuart J. H.

2012-01-01

Background In recent years there has been a growing interest in the relationship between sedentary behaviour (sitting) and health outcomes. Only recently have there been studies assessing the association between time spent in sedentary behaviour and the metabolic syndrome. The aim of this study is to quantify the association between sedentary behaviour and the metabolic syndrome in adults using meta-analysis. Methodology/Principal Findings Medline, Embase and the Cochrane Library were searched using medical subject headings and key words related to sedentary behaviours and the metabolic syndrome. Reference lists of relevant articles and personal databases were hand searched. Inclusion criteria were: (1) cross sectional or prospective design; (2) include adults ≥18 years of age; (3) self-reported or objectively measured sedentary time; and (4) an outcome measure of metabolic syndrome. Odds Ratio (OR) and 95% confidence intervals for metabolic syndrome comparing the highest level of sedentary behaviour to the lowest were extracted for each study. Data were pooled using random effects models to take into account heterogeneity between studies. Ten cross-sectional studies (n = 21393 participants), one high, four moderate and five poor quality, were identified. Greater time spent sedentary increased the odds of metabolic syndrome by 73% (OR 1.73, 95% CI 1.55–1.94, p<0.0001). There were no differences for subgroups of sex, sedentary behaviour measure, metabolic syndrome definition, study quality or country income. There was no evidence of statistical heterogeneity (I2 = 0.0%, p = 0.61) or publication bias (Eggers test t = 1.05, p = 0.32). Conclusions People who spend higher amounts of time in sedentary behaviours have greater odds of having metabolic syndrome. Reducing sedentary behaviours is potentially important for the prevention of metabolic syndrome. PMID:22514690

Engineering and Language Discourse Collaboration: Practice Realities

ERIC Educational Resources Information Center

Harran, Marcelle

2011-01-01

This article describes a situated engineering project at a South African HE institution which is underpinned by collaboration between Applied Language Studies (DALS) and Mechanical Engineering. The collaboration requires language practitioners and engineering experts to negotiate and collaborate on academic literacies practices, discourse…

Communication, Collaboration, and Enhancing the Learning Experience: Developing a Collaborative Virtual Enquiry Service in University Libraries in the North of England

ERIC Educational Resources Information Center

Jolly, Liz; White, Sue

2016-01-01

This article uses the case study of developing a collaborative "out-of-hours" virtual enquiry service by members of the Northern Collaboration Group of academic libraries in the north of England to explore the importance of communication and collaboration between academic library services in enhancing student learning. Set within the…

Case study on perspicacity of collaborative learning experiences

NASA Astrophysics Data System (ADS)

Abdullah, Fadzidah; Majid, Noor Hanita Abdul; Numen, Ibrahim; Kesuma Azmin, Aida; Abd. Rahim, Zaiton; Denan, Zuraini; Emin Sisman, Muhammet

2017-12-01

In the attempt to relate to the architectural practice, architectural education today has augmented the development of collaborative learning environment in the campus scenario. Presently, collaborative work among students from the same program and university is considered common. Hence, attempts of collaboration is extended into having learning and teaching collaboration by means of inter-universities. The School of Architecture, at the International Islamic University Malaysia (IIUM) has explored into having collaboration across the continent with Fatih Sultan Mehmet Waqf University (FSMWU), among faculty members and students of the two (2) universities This paper explicates the empirical study on students’ perspicacity of their collaborative learning experiences; in term of effectiveness, generative behaviour, and teamwork. Survey with three (3) open-ended questions are distributed to students to express their opinions on learning collaboration that they have had during the execution of the Joint Summer School Program (JSSP). Feedback on their perspicacity is obtained and organised into numerical and understandable data display, using qualitative data processing software. Albeit the relevancy of collaborative learning, students gave both positive and negative feedbacks on their experiences. Suggestions are given to enhance the quality of collaborative learning experience for future development

Computational approaches for predicting biomedical research collaborations.

PubMed

Zhang, Qing; Yu, Hong

2014-01-01

Biomedical research is increasingly collaborative, and successful collaborations often produce high impact work. Computational approaches can be developed for automatically predicting biomedical research collaborations. Previous works of collaboration prediction mainly explored the topological structures of research collaboration networks, leaving out rich semantic information from the publications themselves. In this paper, we propose supervised machine learning approaches to predict research collaborations in the biomedical field. We explored both the semantic features extracted from author research interest profile and the author network topological features. We found that the most informative semantic features for author collaborations are related to research interest, including similarity of out-citing citations, similarity of abstracts. Of the four supervised machine learning models (naïve Bayes, naïve Bayes multinomial, SVMs, and logistic regression), the best performing model is logistic regression with an ROC ranging from 0.766 to 0.980 on different datasets. To our knowledge we are the first to study in depth how research interest and productivities can be used for collaboration prediction. Our approach is computationally efficient, scalable and yet simple to implement. The datasets of this study are available at https://github.com/qingzhanggithub/medline-collaboration-datasets.

How social network analysis can be used to monitor online collaborative learning and guide an informed intervention

PubMed Central

Fors, Uno; Tedre, Matti; Nouri, Jalal

2018-01-01

To ensure online collaborative learning meets the intended pedagogical goals (is actually collaborative and stimulates learning), mechanisms are needed for monitoring the efficiency of online collaboration. Various studies have indicated that social network analysis can be particularly effective in studying students’ interactions in online collaboration. However, research in education has only focused on the theoretical potential of using SNA, not on the actual benefits they achieved. This study investigated how social network analysis can be used to monitor online collaborative learning, find aspects in need of improvement, guide an informed intervention, and assess the efficacy of intervention using an experimental, observational repeated-measurement design in three courses over a full-term duration. Using a combination of SNA-based visual and quantitative analysis, we monitored three SNA constructs for each participant: the level of interactivity, the role, and position in information exchange, and the role played by each participant in the collaboration. On the group level, we monitored interactivity and group cohesion indicators. Our monitoring uncovered a non-collaborative teacher-centered pattern of interactions in the three studied courses as well as very few interactions among students, limited information exchange or negotiation, and very limited student networks dominated by the teacher. An intervention based on SNA-generated insights was designed. The intervention was structured into five actions: increasing awareness, promoting collaboration, improving the content, preparing teachers, and finally practicing with feedback. Evaluation of the intervention revealed that it has significantly enhanced student-student interactions and teacher-student interactions, as well as produced a collaborative pattern of interactions among most students and teachers. Since efficient and communicative activities are essential prerequisites for successful content discussion and for realizing the goals of collaboration, we suggest that our SNA-based approach will positively affect teaching and learning in many educational domains. Our study offers a proof-of-concept of what SNA can add to the current tools for monitoring and supporting teaching and learning in higher education. PMID:29566058

How social network analysis can be used to monitor online collaborative learning and guide an informed intervention.

PubMed

Saqr, Mohammed; Fors, Uno; Tedre, Matti; Nouri, Jalal

2018-01-01

To ensure online collaborative learning meets the intended pedagogical goals (is actually collaborative and stimulates learning), mechanisms are needed for monitoring the efficiency of online collaboration. Various studies have indicated that social network analysis can be particularly effective in studying students' interactions in online collaboration. However, research in education has only focused on the theoretical potential of using SNA, not on the actual benefits they achieved. This study investigated how social network analysis can be used to monitor online collaborative learning, find aspects in need of improvement, guide an informed intervention, and assess the efficacy of intervention using an experimental, observational repeated-measurement design in three courses over a full-term duration. Using a combination of SNA-based visual and quantitative analysis, we monitored three SNA constructs for each participant: the level of interactivity, the role, and position in information exchange, and the role played by each participant in the collaboration. On the group level, we monitored interactivity and group cohesion indicators. Our monitoring uncovered a non-collaborative teacher-centered pattern of interactions in the three studied courses as well as very few interactions among students, limited information exchange or negotiation, and very limited student networks dominated by the teacher. An intervention based on SNA-generated insights was designed. The intervention was structured into five actions: increasing awareness, promoting collaboration, improving the content, preparing teachers, and finally practicing with feedback. Evaluation of the intervention revealed that it has significantly enhanced student-student interactions and teacher-student interactions, as well as produced a collaborative pattern of interactions among most students and teachers. Since efficient and communicative activities are essential prerequisites for successful content discussion and for realizing the goals of collaboration, we suggest that our SNA-based approach will positively affect teaching and learning in many educational domains. Our study offers a proof-of-concept of what SNA can add to the current tools for monitoring and supporting teaching and learning in higher education.

The early evolution of southwestern Pennsylvania's regional math/science collaborative from the leadership perspective

NASA Astrophysics Data System (ADS)

Bunt, Nancy R.

Designed as a regional approach to the coordination of efforts and focusing of resources in fragmented southwestern Pennsylvania, the Collaborative's story is narrated by its founding director. Drawing from office archives, including letters of invitation, meeting notes, and participant evaluations of each event, the study describes the genesis of the Collaborative. It begins with identification of the problem and the resulting charge by a founding congress. It details the building of an organizational framework, the creation of a shared vision, the development of a blueprint for action, and the decision-making involved in determining how to strengthen mathematics and science education in the region. The study notes several influences on the Collaborative's leadership. Considering the role of other collaboratives, the study notes that knowledge of the Los Angeles Educational Partnership's LA SMART jump-started the Collaborative's initial planning process. Knowledge of San Francisco's SEABA influenced the size and naming of the Collaborative's Journal. Fred Newmann's definition of authentic instruction, learning and assessment are reflected in the shared vision and belief statements of the Collaborative. The five disciplines of Peter Senge influenced the nature of the organizational framework as well as the day-to-day operations of the Collaborative. The study also notes that the five organizational tensions identified in Ann Lieberman's work on "intentional learning communities" were present in every aspect of the evolution of the Collaborative. The study suggests that leaders of evolving collaboratives: (1) engage all relevant stakeholders in assessing the current situation and defining a desired future state, (2) take advantage of the lessons learned by others and the resources available at the state and national levels to design strategies and build action plans, (3) model the practices to be inspired in the learning community, (4) constantly gather feedback on process and content--and act on the recommendations as soon as possible, and (5) keep the focus of efforts on achieving the desired future--and measure progress toward it.

Trajectories of collaborative scientific conceptual change: Middle school students learning about ecosystems in a CSCL environment

NASA Astrophysics Data System (ADS)

Liu, Lei

The dissertation aims to achieve two goals. First, it attempts to establish a new theoretical framework---the collaborative scientific conceptual change model, which explicitly attends to social factor and epistemic practices of science, to understand conceptual change. Second, it report the findings of a classroom study to investigate how to apply this theoretical framework to examine the trajectories of collaborative scientific conceptual change in a CSCL environment and provide pedagogical implications. Two simulations were designed to help students make connections between the macroscopic substances and the aperceptual microscopic entities and underlying processes. The reported study was focused on analyzing the aggregated data from all participants and the video and audio data from twenty focal groups' collaborative activities and the process of their conceptual development in two classroom settings. Mixed quantitative and qualitative analyses were applied to analyze the video/audio data. The results found that, overall participants showed significant improvements from pretest to posttest on system understanding. Group and teacher effect as well as group variability were detected in both students' posttest performance and their collaborative activities, and variability emerged in group interaction. Multiple data analyses found that attributes of collaborative discourse and epistemic practices made a difference in student learning. Generating warranted claims in discourse as well as the predicting, coordinating theory-evidence, and modifying knowledge in epistemic practices had an impact on student's conceptual understanding. However, modifying knowledge was found negatively related to students' learning effect. The case studies show how groups differed in using the computer tools as a medium to conduct collaborative discourse and epistemic practices. Only with certain combination of discourse features and epistemic practices can the group interaction lead to successful convergent understanding. The results of the study imply that the collaborative scientific conceptual change model is an effective framework to study conceptual change and the simulation environment may mediate the development of successful collaborative interactions (including collaborative discourse and epistemic practices) that lead to collaborative scientific conceptual change.

Where Lies the Fault in Diagnosing Dhat Syndrome among Females? Understanding through a Case Study.

PubMed

Kar, Sujita Kumar; Singh, Amit

2017-01-01

Dhat syndrome is a culture-bound syndrome of South-East Asia, common in young men. However, similar entity has also been described in female patients who attribute their symptoms to nonpathological or physiological vaginal discharge. The current diagnostic system for psychiatric illnesses does not encompass Dhat syndrome in females, and so these group of patients receive alternative diagnoses such as somatoform disorder or depression. As a result of which the focus of unique Dhat syndrome-centered management gets weakened, affecting the clinical outcome. This case study focuses on the diagnostic dilemmas related to Dhat syndrome in females and pitfalls in the current diagnostic system.

Adherence to the Nordic Nutrition Recommendations in a Nordic population with metabolic syndrome: high salt consumption and low dietary fibre intake (The SYSDIET study).

PubMed

Jonsdottir, Svandis Erna; Brader, Lea; Gunnarsdottir, Ingibjorg; Kally Magnusdottir, Ola; Schwab, Ursula; Kolehmainen, Marjukka; Risérus, Ulf; Herzig, Karl-Heinz; Cloetens, Lieselotte; Helgegren, Hannah; Johansson-Persson, Anna; Hukkanen, Janne; Poutanen, Kaisa; Uusitupa, Matti; Hermansen, Kjeld; Thorsdottir, Inga

2013-12-16

The Nordic countries collaborate in setting recommendations for intake of nutrients by publishing the Nordic Nutrition Recommendations (NNR). Studies exploring how well the Nordic population adheres to the NNR are limited and none are available for the metabolic syndrome (MetS) subgroup. Individuals with MetS are a large part of the adult Nordic population and their diet's nutritional quality is of great importance as it can affect the progression of MetS. To evaluate nutritional intake in a cohort of Nordic adults with MetS or MetS risk factors and their adherence to the NNR. A multi-centre study was carried out in six centres in four Nordic countries (SYSDIET CoE). Participants (n=175) were 30-65 years of age, with BMI 27-38 kg/m(2) and had at least two criteria for MetS. The NNR was used to evaluate the baseline nutrient intake calculated from the participants' 4-day food diaries using national nutrient databases. Less than 20% of participants consumed ≤10 E% from saturated fat as recommended in the NNR. Recommended intake (RI) of polyunsaturated fat was met by approximately one-third of participants. Only 20% of men and 26% of women met the RI of dietary fibre. Intake below the defined lower intake level of 2.5 µg/day for vitamin D was observed in nearly 20% of participants. The daily median intake of salt was 8.8 g for men and 6.7 g for women. Dietary quality of this Nordic population with Mets or MetS risk factors is unsatisfactory and characterised by high intakes of SFA and sodium and low intakes of PUFA and dietary fibre. Vitamin D intake was below RI level in a large part of the population. Authorities in the Nordic countries are encouraged to develop intervention programmes for high-risk groups.