Lenalidomide in Treating Young Patients With Relapsed or Refractory Solid Tumors or Myelodysplastic Syndromes

ClinicalTrials.gov

2014-06-10

Childhood Myelodysplastic Syndromes; de Novo Myelodysplastic Syndromes; Previously Treated Myelodysplastic Syndromes; Refractory Anemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Ringed Sideroblasts; Refractory Cytopenia With Multilineage Dysplasia; Secondary Myelodysplastic Syndromes; Unspecified Childhood Solid Tumor, Protocol Specific

NCI study shows feasibility of cancer screening protocol for high-risk population

Cancer.gov

In a new study from the National Cancer Institute, researchers found a high prevalence of cancer at baseline screening in individuals with Li-Fraumeni syndrome, a rare inherited disorder that leads to a higher risk of developing certain cancers.

Variability in Usual Care Mechanical Ventilation for Pediatric Acute Respiratory Distress Syndrome: Time for a Decision Support Protocol?

PubMed

Newth, Christopher J L; Sward, Katherine A; 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; Holubkov, Richard; Doctor, Allan; Dean, J Michael; Jenkins, Tammara L; Nicholson, Carol E

2017-11-01

Although pediatric intensivists philosophically embrace lung protective ventilation for acute lung injury and acute respiratory distress syndrome, we hypothesized that ventilator management varies. We assessed ventilator management by evaluating changes to ventilator settings in response to blood gases, pulse oximetry, or end-tidal CO2. We also assessed the potential impact that a pediatric mechanical ventilation protocol adapted from National Heart Lung and Blood Institute acute respiratory distress syndrome network protocols could have on reducing variability by comparing actual changes in ventilator settings to those recommended by the protocol. Prospective observational study. Eight tertiary care U.S. PICUs, October 2011 to April 2012. One hundred twenty patients (age range 17 d to 18 yr) with acute lung injury/acute respiratory distress syndrome. Two thousand hundred arterial and capillary blood gases, 3,964 oxygen saturation by pulse oximetry, and 2,757 end-tidal CO2 values were associated with 3,983 ventilator settings. Ventilation mode at study onset was pressure control 60%, volume control 19%, pressure-regulated volume control 18%, and high-frequency oscillatory ventilation 3%. Clinicians changed FIO2 by ±5 or ±10% increments every 8 hours. Positive end-expiratory pressure was limited at ~10 cm H2O as oxygenation worsened, lower than would have been recommended by the protocol. In the first 72 hours of mechanical ventilation, maximum tidal volume/kg using predicted versus actual body weight was 10.3 (8.5-12.9) (median [interquartile range]) versus 9.2 mL/kg (7.6-12.0) (p < 0.001). Intensivists made changes similar to protocol recommendations 29% of the time, opposite to the protocol's recommendation 12% of the time and no changes 56% of the time. Ventilator management varies substantially in children with acute respiratory distress syndrome. Opportunities exist to minimize variability and potentially injurious ventilator settings by using a pediatric mechanical ventilation protocol offering adequately explicit instructions for given clinical situations. An accepted protocol could also reduce confounding by mechanical ventilation management in a clinical trial.

An overview of clinical tools used to assess neonatal abstinence syndrome.

PubMed

Orlando, Susan

2014-01-01

Several clinical tools have been developed to quantify the severity of withdrawal signs and symptoms exhibited by infants born to substance-using mothers. Scores from the systematic assessments are used to guide treatment of infants with moderate to severe clinical signs. This article provides an overview of published assessment tools developed for infants with neonatal abstinence syndrome. Nurses caring for infants at risk for neonatal abstinence syndrome should be knowledgeable about the tools used to evaluate these infants and guide their treatment. The ideal assessment tool should be published and include item definitions and a protocol for administering the tool. Nurses need education and training to achieve competency and interobserver reliability in the use of a selected tool. Tool-specific materials should be used to standardize training and improve accuracy in assessments. Competent and knowledgeable nurses play a critical role in improving outcomes for infants with neonatal abstinence syndrome.

Considerations in establishing a post-mortem brain and tissue bank for the study of myalgic encephalomyelitis/chronic fatigue syndrome: a proposed protocol

PubMed Central

2014-01-01

Background Our aim, having previously investigated through a qualitative study involving extensive discussions with experts and patients the issues involved in establishing and maintaining a disease specific brain and tissue bank for myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), was to develop a protocol for a UK ME/CFS repository of high quality human tissue from well characterised subjects with ME/CFS and controls suitable for a broad range of research applications. This would involve a specific donor program coupled with rapid tissue collection and processing, supplemented by comprehensive prospectively collected clinical, laboratory and self-assessment data from cases and controls. Findings We reviewed the operations of existing tissue banks from published literature and from their internal protocols and standard operating procedures (SOPs). On this basis, we developed the protocol presented here, which was designed to meet high technical and ethical standards and legal requirements and was based on recommendations of the MRC UK Brain Banks Network. The facility would be most efficient and cost-effective if incorporated into an existing tissue bank. Tissue collection would be rapid and follow robust protocols to ensure preservation sufficient for a wide range of research uses. A central tissue bank would have resources both for wide-scale donor recruitment and rapid response to donor death for prompt harvesting and processing of tissue. Conclusion An ME/CFS brain and tissue bank could be established using this protocol. Success would depend on careful consideration of logistic, technical, legal and ethical issues, continuous consultation with patients and the donor population, and a sustainable model of funding ideally involving research councils, health services, and patient charities. This initiative could revolutionise the understanding of this still poorly-understood disease and enhance development of diagnostic biomarkers and treatments. PMID:24938650

Development of an alcohol withdrawal protocol: CNS collaborative exemplar.

PubMed

Phillips, Susan; Haycock, Camille; Boyle, Deborah

2006-01-01

The purpose of this process improvement project was to develop an Alcohol Withdrawal Syndrome (AWS) management protocol for acute care. The prevalence of alcohol abuse in our society presents challenges for health professionals, and few nurses have received formal education on the identification and treatment of AWS, which has frequently resulted in ineffective, nonstandardized care. However, nurses practicing in medical-surgical, emergency, trauma, and critical care settings must be astute in the assessment and management of AWS. DESIGN/BACKGROUND/RATIONALE: Following an analysis of existing management protocols, a behavioral health clinical nurse specialist was asked to lead a work team composed of physicians, pharmacists, and nurses to develop a new evidence-based alcohol withdrawal protocol for acute care. By implementing a standardized assessment tool and treatment protocol, clinical nurse specialists empowered nursing staff with strategies to prevent the serious medical complications associated with AWS. FINDINGS/OUTCOMES: The development and integration of a safe and effective treatment protocol to manage AWS was facilitated by collaborative, evidence-based decision making. Clinical experience and specialty expertise were integrated by clinical nurse specialists skilled in group dynamics, problem-solving, and the implementation of change. Improving care of patients in AWS is an exemplar for clinical nurse specialist roles as change agent and patient advocate.

Protocol for physical assessment in patients with fibromyalgia syndrome.

PubMed

dos Santos, Michele R; Moro, Claudia M C; Vosgerau, Dilmeire S R

2014-01-01

Fibromyalgia syndrome (FMS) is a chronic disease that causes pain and fatigue, presenting a negative impact on quality of life. Exercise helps maintaining physical fitness and influences directly on the improvement of quality of life. Develop a protocol for health-related physical fitness assessment of patients with FMS with tests that are feasible and appropriate for this population. An exploratory and analytical literature review was performed, seeking to determine the tests used by the scientific community. With this in mind, we performed a literature revision through the use of virtual libraries databases: PubMed, Bireme, Banco de Teses e Dissertações da Capes and Biblioteca Digital Brasileira de Teses e Dissertações, published in between 1992-2012. A variety of tests was found; the following, by number of citations, stood out: Body Mass Index (BMI) and bioimpedance; 6-minute walk; handgrip strength (dynamometer, 1RM [Repetition Maximum]); Sit and reach and Shoulder flexibility; Foot Up and Go, and Flamingo balance. These are the tests that should make up the protocol for the physical evaluation of FMS patients, emphasizing their ease of use.

Feeding Protocols for Neonates With Hypoplastic Left Heart Syndrome: A Review.

PubMed

Jenkins, Erin

2015-01-01

Optimizing nutrition in neonates with hypoplastic left heart syndrome is essential, given the high rate of growth failure in this population. Infants with hypoplastic left heart syndrome are predisposed to nutritional deficiency as a result of their increased metabolic demand; however, early enteral feeding also increases the risk of serious gastrointestinal morbidity and mortality caused by poor intestinal perfusion. Consequently, providers have difficulty deciding when and how to safely feed these patients. A review of the literature found that implementation of a structured enteral feeding protocol may decrease the risk of gastrointestinal complications while also minimizing dependence on parenteral nutrition and decreasing length of hospital stay. As these studies were limited, further research is warranted to establish a best practice feeding protocol to decrease risk and optimize nutrition in this fragile population.

Clinical epidemiology survey of the traditional Chinese medicine etiology and syndrome differentiation of coronary artery disease: study protocol of a multicenter trial.

PubMed

Bi, Ying-fei; Mao, Jing-yuan; Wang, Xian-liang; Hou, Ya-zhu; Lu, Yi-zhu; Soh, Shan Bin; Zhang, Bo-li

2012-06-01

Coronary artery disease (CAD), a common disease with high incidence and mortality rate, has seriously threatened the health and life of the public. Traditional Chinese medicine (TCM) has an important role in the prevention and treatment of this disease. Through clinical epidemiological survey, a deeper understanding of TCM etiology and syndrome characteristics in CAD would further improve clinical efficacy in the treatment of this disease. The preliminary clinical questionnaire for TCM etiology and syndrome differentiation in CAD was designed after literature reviews and analysis. Through a series of clinical pre-surveys, expert consultation and demonstration, the formal TCM clinical epidemiology questionnaire on the etiology and syndrome differentiation in CAD was finalized, after which, the study protocol, inclusive and exclusive criteria and related quality control measures were prepared. The multiregional clinical epidemiological survey with more than 5000 participants with CAD will be carried out in 41 TCM hospitals of China for investigating the TCM etiology and syndrome differentiation of CAD. Multiregion large sample size clinical epidemiology survey on TCM etiology and syndrome differentiation in CAD will provide further evidence in preventing CAD and improving the standardization process of syndrome research. This study protocol was registered at the Chinese Clinical Trial Registry on November 27, 2011 in both Chinese and English editions and the registration number is ChiCTR-ECS-11001728.

Incorporating thyroid markers in Down syndrome screening protocols.

PubMed

Dhaifalah, Ishraq; Salek, Tomas; Langova, Dagmar; Cuckle, Howard

2017-05-01

The article aimed to assess the benefit of incorporating maternal serum thyroid disease marker levels (thyroid-stimulating hormone and free thyroxine) into first trimester Down syndrome screening protocols. Statistical modelling was used to predict performance with and without the thyroid markers. Two protocols were considered: the combined test and the contingent cell-free DNA (cfDNA) test, where 15-40% women are selected for cfDNA because of increased risk based on combined test results. Published parameters were used for the combined test, cfDNA and the Down syndrome means for thyroid-stimulating hormone and free thyroxine; other parameters were derived from a series of 5230 women screened for both thyroid disease and Down syndrome. Combined test: For a fixed 85% detection rate, the predicted false positive rate was reduced from 5.3% to 3.6% with the addition of the thyroid markers. Contingent cfDNA test: For a fixed 95% detection rate, the proportion of women selected for cfDNA was reduced from 25.6% to 20.2%. When screening simultaneously for maternal thyroid disease and Down syndrome, thyroid marker levels should be used in the calculation of Down syndrome risk. The benefit is modest but can be achieved with no additional cost. © 2017 John Wiley & Sons, Ltd. © 2017 John Wiley & Sons, Ltd.

[Treatment of Alcohol Withdrawal Syndrome with Oxazepam or Clomethiazole - A Naturalistic Observational Study].

PubMed

Verthein, Uwe; Kuhn, Silke; Gabriel, Katrin; Mautsch, Ulrich; Reimer, Jens; Behrendt, Klaus

2018-03-01

Whilst internationally benzodiazepines are first choice for treatment of alcohol withdrawal syndrome, Germany has a long tradition with clomethiazole. This study explores effectiveness of clomethiazole versus oxazepam in the treatment of alcohol withdrawal syndrome within an observational, stratified, non-inferiority study in routine care. Main outcome criterion was severity of the alcohol withdrawal syndrome (Alcohol Withdrawal Syndrome [AWS]) Scale in the first five days. Additionally, the association between the detoxification protocol (five vs. ten days) and AWS-Score was examined. 453 patients (74.2 % male, average age 47.1 years [± 9.2]) took part; 249 received oxazepam (55.0 %) and 204 clomethiazole (45.0 %). The average duration of inpatient treatment was 14.0 days (± 6.3) in both groups. The average AWS-score was lower in the oxazepam group compared to the clomethiazole group (50.0 [± 26.5] vs. 56.2 [± 31.5]; p < .05; effect size d = - .25). Patients with a shorter detoxification protocol had a lower AWS sum score compared to patients with a longer protocol (p < .001; d = - .46). In treatment of alcohol withdrawal syndrome in routine care oxazepam yields at least comparable results to clomethiazole. © Georg Thieme Verlag KG Stuttgart · New York.

[Quality management in weight restitution in Anorexia nervosa--pathophysiology, evidence-based practice and prevention of the refeeding syndrome].

PubMed

Mayr, Michael; Imgart, Hartmut; Skala, Katrin; Karwautz, Andreas

2015-01-01

During refeeding syndrome-a well-known and dreaded complication of weight-restauration in anorexia nervosa-a shift of electrolytes and fluid can occur in malnourished patients and might therefore lead to-potentially fatal-cardiovascular, respiratory and neurological symptoms. Causes of this are metabolic and hormonal changes during re-establishment of a carbohydrate-rich diet. This syndrome is most commonly associated with hypophosphatemia, which can however be accompanied by other chemical laboratory abnormalities. Standardized guidelines for the prevention and management of the refeeding syndrome have not yet been established. In case and cohort studies different low- and high-calorie diet protocols led to comparable results with similar complication rates. A focus should be placed on prevention of serious complications by careful monitoring. The pathophysiology, the main constituents in the development of the refeeding syndrome, recommendations for risk assessment and treatment, and current evidence are discussed.

Pancreatic ductal adenocarcinoma: Risk factors, screening, and early detection

PubMed Central

Becker, Andrew E; Hernandez, Yasmin G; Frucht, Harold; Lucas, Aimee L

2014-01-01

Pancreatic cancer is the fourth most common cause of cancer-related deaths in the United States, with over 38000 deaths in 2013. The opportunity to detect pancreatic cancer while it is still curable is dependent on our ability to identify and screen high-risk populations before their symptoms arise. Risk factors for developing pancreatic cancer include multiple genetic syndromes as well as modifiable risk factors. Genetic conditions include hereditary breast and ovarian cancer syndrome, Lynch Syndrome, familial adenomatous polyposis, Peutz-Jeghers Syndrome, familial atypical multiple mole melanoma syndrome, hereditary pancreatitis, cystic fibrosis, and ataxia-telangiectasia; having a genetic predisposition can raise the risk of developing pancreatic cancer up to 132-fold over the general population. Modifiable risk factors, which include tobacco exposure, alcohol use, chronic pancreatitis, diet, obesity, diabetes mellitus, as well as certain abdominal surgeries and infections, have also been shown to increase the risk of pancreatic cancer development. Several large-volume centers have initiated such screening protocols, and consensus-based guidelines for screening high-risk groups have recently been published. The focus of this review will be both the genetic and modifiable risk factors implicated in pancreatic cancer, as well as a review of screening strategies and their diagnostic yields. PMID:25170203

Mechanism of Regulation of Adipocyte Numbers in Adult Organisms Through Differentiation and Apoptosis Homeostasis.

PubMed

Bozec, Aline; Hannemann, Nicole

2016-06-03

Considering that adipose tissue (AT) is an endocrine organ, it can influence whole body metabolism. Excessive energy storage leads to the dysregulation of adipocytes, which in turn induces abnormal secretion of adipokines, triggering metabolic syndromes such as obesity, dyslipidemia, hyperglycemia, hyperinsulinemia, insulin resistance and type 2 diabetes. Therefore, investigating the molecular mechanisms behind adipocyte dysregulation could help to develop novel therapeutic strategies. Our protocol describes methods for evaluating the molecular mechanism affected by hypoxic conditions of the AT, which correlates with adipocyte apoptosis in adult mice. This protocol describes how to analyze AT in vivo through gene expression profiling as well as histological analysis of adipocyte differentiation, proliferation and apoptosis during hypoxia exposure, ascertained through staining of hypoxic cells or HIF-1α protein. Furthermore, in vitro analysis of adipocyte differentiation and its responses to various stimuli completes the characterization of the molecular pathways behind possible adipocyte dysfunction leading to metabolic syndromes.

Lipopolysaccharide-Induced Toxic Shock Syndrome in Rabbits.

PubMed

Stach, Christopher S; Schlievert, Patrick M

2016-01-01

Enhancement of susceptibility to lipopolysaccharide (LPS; endotoxin) is a defining characteristic of Staphylococcus aureus superantigens. At the time of this publication, there are 24 identified staphylococcal superantigens (SAgs), some of which have yet to be fully characterized. Testing the capacity of superantigens to potentiate LPS sensitivity is essential to characterize the role of these proteins in disease development. Here we describe how to perform studies of the enhancement of LPS-induced toxic shock syndrome in rabbits. This protocol also provides information on a second important activity of superantigens: the production of fever.

Fluid management with a simplified conservative protocol for the acute respiratory distress syndrome*.

PubMed

Grissom, Colin K; Hirshberg, Eliotte L; Dickerson, Justin B; Brown, Samuel M; Lanspa, Michael J; Liu, Kathleen D; Schoenfeld, David; Tidswell, Mark; Hite, R Duncan; Rock, Peter; Miller, Russell R; Morris, Alan H

2015-02-01

In the Fluid and Catheter Treatment Trial (FACTT) of the National Institutes of Health Acute Respiratory Distress Syndrome Network, a conservative fluid protocol (FACTT Conservative) resulted in a lower cumulative fluid balance and better outcomes than a liberal fluid protocol (FACTT Liberal). Subsequent Acute Respiratory Distress Syndrome Network studies used a simplified conservative fluid protocol (FACTT Lite). The objective of this study was to compare the performance of FACTT Lite, FACTT Conservative, and FACTT Liberal protocols. Retrospective comparison of FACTT Lite, FACTT Conservative, and FACTT Liberal. Primary outcome was cumulative fluid balance over 7 days. Secondary outcomes were 60-day adjusted mortality and ventilator-free days through day 28. Safety outcomes were prevalence of acute kidney injury and new shock. ICUs of Acute Respiratory Distress Syndrome Network participating hospitals. Five hundred three subjects managed with FACTT Conservative, 497 subjects managed with FACTT Liberal, and 1,124 subjects managed with FACTT Lite. Fluid management by protocol. Cumulative fluid balance was 1,918 ± 323 mL in FACTT Lite, -136 ± 491 mL in FACTT Conservative, and 6,992 ± 502 mL in FACTT Liberal (p < 0.001). Mortality was not different between groups (24% in FACTT Lite, 25% in FACTT Conservative and Liberal, p = 0.84). Ventilator-free days in FACTT Lite (14.9 ± 0.3) were equivalent to FACTT Conservative (14.6 ± 0.5) (p = 0.61) and greater than in FACTT Liberal (12.1 ± 0.5, p < 0.001 vs Lite). Acute kidney injury prevalence was 58% in FACTT Lite and 57% in FACTT Conservative (p = 0.72). Prevalence of new shock in FACTT Lite (9%) was lower than in FACTT Conservative (13%) (p = 0.007 vs Lite) and similar to FACTT Liberal (11%) (p = 0.18 vs Lite). FACTT Lite had a greater cumulative fluid balance than FACTT Conservative but had equivalent clinical and safety outcomes. FACTT Lite is an alternative to FACTT Conservative for fluid management in Acute Respiratory Distress Syndrome.

Sixteen weeks of resistance training can decrease the risk of metabolic syndrome in healthy postmenopausal women

PubMed Central

Conceição, Miguel Soares; Bonganha, Valéria; Vechin, Felipe Cassaro; de Barros Berton, Ricardo Paes; Lixandrão, Manoel Emílio; Nogueira, Felipe Romano Damas; de Souza, Giovana Vergínia; Chacon-Mikahil, Mara Patricia Traina; Libardi, Cleiton Augusto

2013-01-01

Background The postmenopausal phase has been considered an aggravating factor for developing metabolic syndrome. Notwithstanding, no studies have as yet investigated the effects of resistance training on metabolic syndrome in postmenopausal women. Thus, the purpose of this study was to verify whether resistance training could reduce the risk of metabolic syndrome in postmenopausal women. Methods Twenty postmenopausal women were randomly assigned to a resistance training protocol (n = 10, 53.40 ± 3.95 years, 64.58 ± 9.22 kg) or a control group (n = 10, 53.0 ± 5.7 years, 64.03 ± 5.03 kg). In the resistance training protocol, ten exercises were performed, with 3 × 8−10 maximal repetitions three times per week, and the load was increased every week. Two-way analysis of variance was used to evaluate specific metabolic syndrome Z-score, high density lipoprotein cholesterol, fasting blood glucose, triglycerides, waist circumference, blood pressure, strength, and body composition. The level of statistical significance was set at P < 0.05. Results The main results demonstrated a significant decrease of metabolic syndrome Z-score when the postmenopausal women performed resistance training (P = 0.0162). Moreover, we observed decreases in fasting blood glucose for the resistance training group (P = 0.001), and also significant improvements in lean body mass (P = 0.042, 2.46%), reduction of body fat percentage (P = 0.001, −6.75%) and noticeable increases in muscle strength after resistance training to leg press (P = 0.004, 41.29%) and bench press (P = 0.0001, 27.23%). Conclusion It was concluded that resistance training performed three times a week may reduce the metabolic syndrome Z-score with concomitant decreases in fasting blood glucose, improvements in body composition, and muscle strength in postmenopausal women. PMID:24072967

Nutrition in clinical practice-the refeeding syndrome: illustrative cases and guidelines for prevention and treatment.

PubMed

Stanga, Z; Brunner, A; Leuenberger, M; Grimble, R F; Shenkin, A; Allison, S P; Lobo, D N

2008-06-01

The refeeding syndrome is a potentially lethal complication of refeeding in patients who are severely malnourished from whatever cause. Too rapid refeeding, particularly with carbohydrate may precipitate a number of metabolic and pathophysiological complications, which may adversely affect the cardiac, respiratory, haematological, hepatic and neuromuscular systems leading to clinical complications and even death. We aimed to review the development of the refeeding syndrome in a variety of situations and, from this and the literature, devise guidelines to prevent and treat the condition. We report seven cases illustrating different aspects of the refeeding syndrome and the measures used to treat it. The specific complications encountered, their physiological mechanisms, identification of patients at risk, and prevention and treatment are discussed. Each case developed one or more of the features of the refeeding syndrome including deficiencies and low plasma levels of potassium, phosphate, magnesium and thiamine combined with salt and water retention. These responded to specific interventions. In most cases, these abnormalities could have been anticipated and prevented. The main features of the refeeding syndrome are described with a protocol to anticipate, prevent and treat the condition in adults.

In-Hospital Quality-of-Care Measures for Pediatric Sepsis Syndrome.

PubMed

Odetola, Folafoluwa O; Freed, Gary; Shevrin, Caroline; Madden, Brian; McCormick, Julie; Dombkowski, Kevin

2017-07-24

Sepsis syndrome, comprising sepsis, severe sepsis, and septic shock, is a leading cause of child mortality and morbidity, for which the delivery of time-sensitive care leads to improved survival. We aimed to describe the development and testing of quality measures for in-hospital care of pediatric sepsis syndrome. Seven measures of quality of care for children hospitalized with sepsis syndrome were developed by using an iterative process including literature review, development of concepts and candidate measures, and selection of measures for feasibility and importance by 2 panels of experts. The measures were tested for reliability and validity among children 0 to 18 years of age hospitalized with sepsis syndrome from January 1, 2012, to June 30, 2013. Of 27 hospitals, 59% had no protocol for the identification and treatment of pediatric sepsis syndrome. Blood culture was performed in only 70% of patients with pediatric sepsis syndrome. Antibiotics were administered within 1 hour of diagnosis in 70% of patients with pediatric severe sepsis or septic shock, and timely fluid resuscitation was performed in 50% of patients with severe sepsis or septic shock. Documentation of heart rate during fluid resuscitation of children with severe sepsis or septic shock was observed in 18% of cases. Two measures could not be rigorously tested for validity and reliability given the rarity of septic shock and were deemed infeasible. This multisite study to develop and validate measures of the quality of hospital care of children with sepsis syndrome highlights the existence of important gaps in delivery of care. Copyright © 2017 by the American Academy of Pediatrics.

Rating parent-child interactions: joint engagement, communication dynamics, and shared topics in autism, Down syndrome, and typical development.

PubMed

Adamson, Lauren B; Bakeman, Roger; Deckner, Deborah F; Nelson, P Brooke

2012-12-01

A battery of 17 rating items were applied to video records of typically-developing toddlers and young children with autism and Down syndrome interacting with their parents during the Communication Play Protocol. This battery provided a reliable and broad view of the joint engagement triad of child, partner, and shared topic. Ratings of the child's joint engagement correlated very strongly with state coding of joint engagement and replicated the finding that coordinated joint engagement was less likely in children with autism. Ratings of other child actions, of parent contributions, and of shared topics and communicative dynamics also documented pervasive variations related to diagnosis, language facility, and communicative context.

Streamlined Genome Sequence Compression using Distributed Source Coding

PubMed Central

Wang, Shuang; Jiang, Xiaoqian; Chen, Feng; Cui, Lijuan; Cheng, Samuel

2014-01-01

We aim at developing a streamlined genome sequence compression algorithm to support alternative miniaturized sequencing devices, which have limited communication, storage, and computation power. Existing techniques that require heavy client (encoder side) cannot be applied. To tackle this challenge, we carefully examined distributed source coding theory and developed a customized reference-based genome compression protocol to meet the low-complexity need at the client side. Based on the variation between source and reference, our protocol will pick adaptively either syndrome coding or hash coding to compress subsequences of changing code length. Our experimental results showed promising performance of the proposed method when compared with the state-of-the-art algorithm (GRS). PMID:25520552

Boldness, Aggression, and Shoaling Assays for Zebrafish Behavioral Syndromes.

PubMed

Way, Gregory P; Southwell, Maura; McRobert, Scott P

2016-08-29

A behavioral syndrome exists when specific behaviors interact under different contexts. Zebrafish have been test subjects in recent studies and it is important to standardize protocols to ensure proper analyses and interpretations. In our previous studies, we have measured boldness by monitoring a series of behaviors (time near surface, latency in transitions, number of transitions, and darts) in a 1.5 L trapezoidal tank. Likewise, we quantified aggression by observing bites, lateral displays, darts, and time near an inclined mirror in a rectangular 19 L tank. By dividing a 76 L tank into thirds, we also examined shoaling preferences. The shoaling assay is a highly customizable assay and can be tailored for specific hypotheses. However, protocols for this assay also must be standardized, yet flexible enough for customization. In previous studies, end chambers were either empty, contained 5 or 10 zebrafish, or 5 pearl danios (D. albolineatus). In the following manuscript, we present a detailed protocol and representative data that accompany successful applications of the protocol, which will allow for replication of behavioral syndrome experiments.

[Physiotherapeutic assessment of chronic pelvic pain syndrome : Development of a standardized physiotherapeutic assessment instrument for interprofessional cooperation in patients with chronic pelvic pain syndrome].

PubMed

Klotz, S G R; Ketels, G; Richardsen, B; Löwe, B; Brünahl, C A

2018-04-24

The chronic pelvic pain syndrome (CPPS) can be associated with physiotherapeutic findings. An interprofessional approach is recommended for patients with CPPS; however, no standardized physiotherapeutic assessment and documentation instrument for specific physiotherapeutic assessments exist, which is not only the foundation for physiotherapy but also for interprofessional communication. The aim was the development of a physiotherapeutic assessment instrument for patients with CPPS and therefore, to create a tool for clinical use, research and interprofessional communication. Based on an explorative literature search and an expert consensus, the first version of the instrument was developed as part of a specialized outpatient clinic. This version was applied clinically for 13 months, edited and finalized after another expert consensus. The developed instrument Physical Therapy Assessment for Chronic Pelvic Pain Syndrome (PTA-CPPS) lists external and internal groups of muscles for a systematic assessment of myofascial findings. Functional capacity, breathing movements as well as scars and regions of pain are recorded. A manual for the assessment protocol was developed as accompanying material. The developed instrument provides for the first time a physiotherapeutic assessment tool for patients with CPPS for interprofessional clinical and scientific use.

Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol.

PubMed

Fincham, Gregory S; Pasea, Laura; Carroll, Christopher; McNinch, Annie M; Poulson, Arabella V; Richards, Allan J; Scott, John D; Snead, Martin P

2014-08-01

The Stickler syndromes are the most common causes of inherited and childhood retinal detachment; however, no consensus exists regarding the effectiveness of prophylactic intervention. We evaluate the long-term safety and efficacy of the Cambridge prophylactic cryotherapy protocol, a standardized retinal prophylactic treatment developed to prevent retinal detachment arising from giant retinal tears in type 1 Stickler syndrome. Retrospective comparative case series. Four hundred eighty seven patients with type 1 Stickler syndrome. Time to retinal detachment was compared between patients who received bilateral prophylaxis and untreated controls, with and without individual patient matching. Patients receiving unilateral prophylaxis (after fellow eye retinal detachment) were similarly compared with an appropriate control subgroup. Individual patient matching ensured equal age and follow-up between groups and that an appropriate control (who had not suffered a retinal detachment before the age at which their individually matched treatment patient underwent prophylactic treatment) was selected. Matching was blinded to outcome events. Individual patient matching protocols purposely weighted bias against the effectiveness of treatment. All treatment side effects are reported. Time to retinal detachment and side effects occurring after prophylactic treatment. The bilateral control group (n = 194) had a 7.4-fold increased risk of retinal detachment compared to the bilateral prophylaxis group (n = 229) (hazard ratio [HR], 7.40; 95% confidence interval [CI], 4.53-12.08; P<0.001); the matched bilateral control group (n = 165) had a 5.0-fold increased risk compared to the matched bilateral prophylaxis group (n = 165) (HR, 4.97; 95% CI, 2.82-8.78; P<0.001). The unilateral control group (n = 104) had a 10.3-fold increased risk of retinal detachment compared to the unilateral prophylaxis group (n = 64) (HR, 10.29; 95% CI, 4.96-21.36; P<0.001); the matched unilateral control group (n = 39) had a 8.4-fold increased risk compared to the matched unilateral prophylaxis group (n = 39) (HR, 8.36; 95% CI, 3.24-21.57; P<0.001). No significant long-term side effects occurred. In the largest global cohort of type 1 Stickler syndrome patients published, all analyses indicate that the Cambridge prophylactic cryotherapy protocol is safe and markedly reduces the risk of retinal detachment. Copyright © 2014 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Freeman-Sheldon syndrome: dental and orthodontic implications.

PubMed

Roberts, T; Stephen, L; Naidoo, T; Fieggen, K; Beighton, P

2005-01-01

The manifestations of the Freeman-Sheldon syndrome (FSS) in four members of a South African family of Xhosa stock have been documented. Orofacial manifestations are a major syndromic component and warrant early, specialized orthodontic intervention. Our protocol for dental management is outlined and suggestions for holistic oro-dental care are provided.

Surveillance of Vision and Ocular Disorders in Children with Down Syndrome

ERIC Educational Resources Information Center

Stephen, Elma; Dickson, Jennifer; Kindley, A. David; Scott, Christopher C.; Charleton, Patricia M.

2007-01-01

Children with Down syndrome have a high prevalence of ocular disorders. The UK Down's Syndrome Medical Interest Group (DSMIG) guidelines for ophthalmic screening were locally implemented into a protocol that included neonatal eye examination by an opthalmologist and a comprehensive ophthalmological examination (cycloplegic refraction,…

Compassionate Use Protocol for the Treatment of Autoinflammatory Syndromes

ClinicalTrials.gov

2018-04-17

Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy and Elevated Temperature (CANDLE); Juvenile Dermatomyositis (JDM); Stimulator of Interferon Genes (STING)-Associated Vasculopathy With Onset During Infancy (SAVI); Aicardi-Goutières Syndrome (AGS)

Combination Chemotherapy and Donor Stem Cell Transplant in Treating Patients With Aplastic Anemia or Hematologic Cancer

ClinicalTrials.gov

2018-01-30

Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Diseases; Nonmalignant Neoplasm; Unspecified Adult Solid Tumor, Protocol Specific; Unspecified Childhood Solid Tumor, Protocol Specific

Mechanism of Regulation of Adipocyte Numbers in Adult Organisms Through Differentiation and Apoptosis Homeostasis

PubMed Central

Bozec, Aline; Hannemann, Nicole

2016-01-01

Considering that adipose tissue (AT) is an endocrine organ, it can influence whole body metabolism. Excessive energy storage leads to the dysregulation of adipocytes, which in turn induces abnormal secretion of adipokines, triggering metabolic syndromes such as obesity, dyslipidemia, hyperglycemia, hyperinsulinemia, insulin resistance and type 2 diabetes. Therefore, investigating the molecular mechanisms behind adipocyte dysregulation could help to develop novel therapeutic strategies. Our protocol describes methods for evaluating the molecular mechanism affected by hypoxic conditions of the AT, which correlates with adipocyte apoptosis in adult mice. This protocol describes how to analyze AT in vivo through gene expression profiling as well as histological analysis of adipocyte differentiation, proliferation and apoptosis during hypoxia exposure, ascertained through staining of hypoxic cells or HIF-1α protein. Furthermore, in vitro analysis of adipocyte differentiation and its responses to various stimuli completes the characterization of the molecular pathways behind possible adipocyte dysfunction leading to metabolic syndromes. PMID:27284940

Identifying pneumonia outbreaks of public health importance: can emergency department data assist in earlier identification?

PubMed

Hope, Kirsty; Durrheim, David N; Muscatello, David; Merritt, Tony; Zheng, Wei; Massey, Peter; Cashman, Patrick; Eastwood, Keith

2008-08-01

To retrospectively review the performance of a near real-time Emergency Department (ED) Syndromic Surveillance System operating in New South Wales for identifying pneumonia outbreaks of public health importance. Retrospective data was obtained from the NSW Emergency Department data collection for a rural hospital that has experienced a cluster of pneumonia diagnoses among teenage males in August 2006. ED standard reports were examined for signals in the overall count for each respiratory syndrome, and for elevated counts in individual subgroups including; age, sex and admission to hospital status. Using the current thresholds, the ED syndromic surveillance system would have trigged a signal for pneumonia syndrome in children aged 5-16 years four days earlier than the notification by a paediatrician and this signal was maintained for 14 days. If the ED syndromic surveillance system had been operating it could have identified the outbreak earlier than the paediatrician's notification. This may have permitted an earlier public health response. By understanding the behaviour of syndromes during outbreaks of public health importance, response protocols could be developed to facilitate earlier implementation of control measures.

Technical standards and guidelines: prenatal screening for Down syndrome that includes first-trimester biochemistry and/or ultrasound measurements.

PubMed

Palomaki, Glenn E; Lee, Jo Ellen S; Canick, Jacob A; McDowell, Geraldine A; Donnenfeld, Alan E

2009-09-01

This statement is intended to augment the current general ACMG Standards and Guidelines for Clinical Genetics Laboratories and to address guidelines specific to first-trimester screening for Down syndrome. The aim is to provide the laboratory the necessary information to ensure accurate and reliable Down syndrome screening results given a screening protocol (e.g., combined first trimester and integrated testing). Information about various test combinations and their expected performance are provided, but other issues such as availability of reagents, patient interest in early test results, access to open neural tube defect screening, and availability of chorionic villus sampling are all contextual factors in deciding which screening protocol(s) will be selected by individual health care providers. Individual laboratories are responsible for meeting the quality assurance standards described by the Clinical Laboratory Improvement Act, the College of American Pathologists, and other regulatory agencies, with respect to appropriate sample documentation, assay validation, general proficiency, and quality control measures. These guidelines address first-trimester screening that includes ultrasound measurement and interpretation of nuchal translucency thickness and protocols that combine markers from both the first and second trimesters. Laboratories can use their professional judgment to make modification or additions.

Corrective Neuromuscular Approach to the Treatment of Iliotibial Band Friction Syndrome: A Case Report

PubMed Central

Pettitt, Robert; Dolski, Angela

2000-01-01

Objective: To describe the evaluation and treatment process for inappropriate functional patterns of neuromuscular activity within the scope of an iliotibial band friction syndrome protocol. Background: Runners with iliotibial band friction syndrome are frequently fitted with orthotic devices to restrict excessive midfoot or rearfoot, or both, motions during the stance phase. These devices may fail to yield favorable results when underlying neuromuscular factors are associated with functional iliotibial band tightening. Differential Diagnosis: Distal biceps femoris tendinitis, popliteal tendinitis, lateral meniscus lesion. Treatment: The athlete's physical examination revealed several patterns of inappropriate neuromuscular activity attributed partly to the prolonged daily wear of beach-type sandals. Modifications of casual footwear and a temporary reduction in training volume were recommended initially to prevent exacerbation of the athlete's condition. Stretching, massage, and soft tissue mobilization were administered in accordance with the athlete's specific needs. The protocol included progressions of nonweightbearing and weightbearing therapeutic exercises. Neuromuscular electric stimulation was incorporated into the protocol to re-educate the role of the first ray within the stance phase of the athlete's walking gait. Uniqueness: Upon stationary examination, this athlete presented with normal lumbar and lower extremity postures. Gait analysis, however, revealed inappropriate dorsiflexion of the great toe during ambulation. Further, the athlete's performances on a series of tests to assess neuromuscular function were substandard. This athlete's response to previous treatment and unique physical findings required a corrective neuromuscular approach that deviates from iliotibial band friction syndrome protocols advocating the use of orthotics. Conclusions: While the role of any single treatment in the athlete's recovery remains unknown, it seems that a corrective neuromuscular approach in the management of iliotibial band friction syndrome represents a viable alternative to orthotic intervention. ImagesFigure 1.Figure 2.Figure 3.Figure 4.Figure 5. PMID:16558617

T-lymphoblastic leukemia/lymphoma in macedonian patients with Nijmegen breakage syndrome.

PubMed

Kocheva, S A; Martinova, K; Antevska-Trajkova, Z; Coneska-Jovanova, B; Eftimov, A; Dimovski, A J

2016-07-01

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive chromosomal instability disorder characterized by microcephaly, immunodeficiency, radiosensitivity and a very high predisposition to malignancy. The gene responsible for the disease, NBS1 , is located on chromosome 8q21 and encodes a protein called nibrin. After identification of the gene, a truncating 5 bp deletion, 657-661delACAAA, was identified as the disease-causing mutation in patients with the NBS. In this report, we describe two patients with NBS and T-lymphoblastic leukemia/lymphoma in a Macedonian family. To the best of our knowledge, this is the first family with NBS reported from Macedonia. Both children presented with microcephaly, syndactyly and the development of T cell lymphoblastic lekemia/lymphoma at the age of 7 and 10 years, respectively. The molecular analysis of NBS1 genes in our patients showed homozygosity for the 657del5 mutation in the NBS1 gene. The parents were heterozygotes for the 657del5 mutation and they had no knowledge of a consanguineous relationship. The first child was treated with the International Berlin-Frankfurt-Münster (BFM)-Non Hodgkin lymphoma (NHL) protocol and achieved a complete remission that lasted for 21 months. Subsequently, he developed a medullar relapse with hyperleukocytosis and died due to lethal central nervous system (CNS) complications. The second child was treated according to the International Collaborative Treatment Protocol for Children and Adolescents with Acute Lymphoblastic Leukemia 2009 (AIOP-BFM ALL 2009) protocol. Unfortunately, remission was not achieved.

Peutz-Jeghers syndrome: data from the Singapore Polyposis Registry and a shifting paradigm in management.

PubMed

Tan, Veronique Km; Koh, Poh Koon; Loi, Carol Tt; Eu, Kong Weng; Tang, Choong Leong

2010-01-01

Peutz-Jeghers Syndrome (PJS) is an uncommon autosomal dominant hamartomatous polyposis syndrome. Morbidity arises from polyp-related complications and increased risks of malignancy. We report on PJS patients registered in the Singapore Polyposis Registry, identified principal causes of morbidity and appraised current management strategies. A followup protocol based on recent literature has been proposed. A search of a prospectively collected database in the Singapore Polyposis Registry was made. Only patients who fulfilled the diagnostic criteria of PJS were included. The clinical records were retrieved for review. Information on affected family members was obtained from the Registry's pedigree records. Seven unrelated patients fulfilled the criteria of having PJS. Principal causes of morbidity include recurrent bouts of abdominal colic, episodes of intestinal obstruction, gastrointestinal bleeding and the need for repeated laparotomies. Six out of 7 patients had initial presentation with acute intestinal obstruction requiring emergency laparotomy. Management was mostly problem-oriented and marked inter-surgeon variation with regard to cancer screening and genetic counselling was observed. Patients with PJS suffer gastrointestinal complications from polyposis and are at increased risks for developing cancers. A move towards surveillance and planned comprehensive care may reduce the morbidity of the condition. A protocol driven approach conducted in the setting of a Polyposis Registry is ideally suited to facilitate such care.

Gorlin-Goltz syndrome: An often missed diagnosis.

PubMed

Thomas, Ninan; Vinod, Sankar V; George, Arun; Varghese, Aabu

2016-01-01

Gorlin-Goltz syndrome due to its high variability in expression are often not diagnosed as the syndrome and often managed same as that of odontogenic keratocyst. But a more careful approach for the syndrome is needed as there is high chance of malignant changes owing to improper management of the syndrome. In this manuscript a case report of Gorlin-Goltz syndrome with the diagnostic features of the same in Indian population along with the difference in treatment protocol from treating an odontogenic keratocyst is described with review of literature.

Gorlin–Goltz syndrome: An often missed diagnosis

PubMed Central

Thomas, Ninan; Vinod, Sankar V.; George, Arun; Varghese, Aabu

2016-01-01

Gorlin-Goltz syndrome due to its high variability in expression are often not diagnosed as the syndrome and often managed same as that of odontogenic keratocyst. But a more careful approach for the syndrome is needed as there is high chance of malignant changes owing to improper management of the syndrome. In this manuscript a case report of Gorlin-Goltz syndrome with the diagnostic features of the same in Indian population along with the difference in treatment protocol from treating an odontogenic keratocyst is described with review of literature PMID:27563620

Mental Fatigue and Physical and Cognitive Performance During a 2-Bout Exercise Test.

PubMed

Vrijkotte, Susan; Meeusen, Romain; Vandervaeren, Cloe; Buyse, Luk; Cutsem, Jeroen van; Pattyn, Nathalie; Roelands, Bart

2018-04-01

The 2-bout exercise protocol has been developed to diagnose nonfunctional overreaching and the "overtraining syndrome." It consists of 2 maximal exercise bouts separated by 4 hours. Mental fatigue negatively influences performance, but the effects of its occurrence during the 2-bout exercise protocol have never been investigated. The aim of this study was to examine whether mental fatigue (induced during the rest period) influences physical and cognitive performance during/after the second exercise bout of the 2-bout exercise protocol. Nine healthy, well-trained male cyclists participated in a single-blind, randomized, placebo-controlled crossover study. The intervention consisted of either 1.5-hour rest (control) or performing a computer-based Stroop task to induce mental fatigue. Cognitive (Eriksen Flanker task), physiological (lactate, maximum heart rate, and maximum wattage), and subjective data (mental fatigue-visual analog scale, Profile of Mood States, and rating of perceived exertion) were gathered. Ratings of fatigue, tension, and mental fatigue were affected in the mental fatigue condition (P < .05). Neither physiological nor cognitive differences were found between conditions. Ratings of mental fatigue were already affected after the first maximum exercise test (P < .05). Neither physical nor cognitive performance was affected by mental fatigue, but subjective ratings did reveal significant differences. It is recommended to exclude mentally challenging tasks during the 2-bout exercise protocol rest period to ascertain unaffected subjective test results. This study should be repeated in athletes diagnosed with nonfunctional overreaching/overtraining syndrome.

Hyperammonemia Syndrome After Lung Transplantation: A Single Center Experience.

PubMed

Chen, Catherine; Bain, Karen B; Iuppa, Jennifer A; Yusen, Roger D; Byers, Derek E; Patterson, George A; Trulock, Elbert P; Hachem, Ramsey R; Witt, Chad A

2016-03-01

Hyperammonemia is a rare, often fatal complication after transplantation. The etiology is unknown, but recognition and rapid treatment may help to improve the survival of this unusual syndrome. We present the largest case series to date of hyperammonemia after lung transplantation (LTx) and discuss a treatment protocol that has been developed at our institution. We conducted a retrospective cohort series of patients who underwent LTx between January 1, 2000, and December 31, 2013. Patients who developed hyperammonemia syndrome in the posttransplantation period, which was defined as symptoms of encephalopathy and plasma ammonia level exceeding 200 μmol/L on at least 1 occasion, were included. Data including demographics, antimicrobial and immunosuppression regimens, ammonia levels and other pertinent laboratory data, treatments administered, and outcomes were recorded. Eight of 807 lung transplant recipients developed hyperammonemia syndrome postoperatively during this time period. Median time to onset was 9.0 days, and median peak ammonia level was 370 μmol/L. All 8 patients were treated with hemodialysis, 7 of 8 patients were treated with bowel decontamination, and 5 of 8 patients were treated with nitrogen scavenging agents. Six of the 8 patients died. The incidence of hyperammonemia syndrome in LTx patients was approximately 1%. Future research is needed to determine the efficacy of treatment, including hemodialysis, bowel decontamination, antibiotics, and the use of nitrogen scavenging agents in lung recipients with hyperammonemia.

Collecting and Storing Blood Samples From Patients With Cancer

ClinicalTrials.gov

2011-12-08

Brain and Central Nervous System Tumors; Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Lymphoproliferative Disorder; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Nonmalignant Neoplasm; Unspecified Adult Solid Tumor, Protocol Specific; Unspecified Childhood Solid Tumor, Protocol Specific

The cycle characteristics of clomiphene with clomiphene and menotropins in polycystic ovary syndrome and non polycystic ovary syndrome infertile patients.

PubMed

Ghasemi, M; Ashraf, H; Koushyar, H; Mousavifar, N

2013-06-01

This study compares the cycle characteristics of clomiphene (CC) with CC+HMG (Human Menopausal Gonadotropin or Menotropins) in Polycystic Ovary Syndrome (PCOS) and non-PCOS infertile patients. Patients were treated by CC + minimal HMg protocol. The cancellation rate, the mean number of different follicle sizes and endometrial thickness and pattern were compared. The cancelled cycles due to non-responsiveness were significantly higher in CC compared to CC+ minimal HMg protocol. PCOS patients are significantly nonresponsive in CC cycle and hyperresponsive in CC+ minimal HMg cycles. The mean number of different sizes of follicles and the endometrial thickness were significantly higher in CC+ minimal HMg. PCOS patients were significantly different from non-PCOS regarding the number of mature follicle and endometrial thickness. The pregnancy rate was 11% (10.2% in non-PCOS and 12.2% in PCOS). CC+ minimal HMg is a viable alternative to HMg /FSH only protocol in CC failure or resistant patients, and its efficacy can be mostly attributed to improvement of endometrial quality and increase in follicle number. Moreover, due to high cancellation of PCOS patients treated by this protocol, seemingly other alternatives should be found; perhaps sequential letrozole+HMg/FSH that have been shown to improve the ovarian response in this group of patients.

Anti-Mullerian Hormone: A Marker of Ovarian Reserve and its Association with Polycystic Ovarian Syndrome.

PubMed

Verma, Anil Kumar; Rajbhar, Sarita; Mishra, Jyoti; Gupta, Mayank; Sharma, Mratunjai; Deshmukh, Geeta; Ali, Wahid

2016-12-01

Anti-Mullerian Hormone (AMH) is a useful endocrine marker for assessing the ovarian reserve. AMH serum level reflects the number of follicles that have made the transition from the primordial pool into the growing follicle pool, and it is not controlled by gonadotropins. The present study was conducted to correlate serum AMH levels with Polycystic Ovarian Syndrome (PCOS) and type of treatment protocol. Serum AMH levels were performed in the early follicular phase (on 2 nd day of menstrual cycle) both in infertile females including PCOS and control women. The results were analyzed in relation to age, Body Mass Index (BMI), ovarian volume, serum Follicle Stimulating Hormone (FSH) levels, Antral Follicle Count (AFC), type of treatment protocols and also in association with PCOS patients. The serum levels of AMH were measured in all the participants on 2 nd day of menstrual cycle using ultra sensitive Enzyme Linked Immunosorbent Assay (ELISA). The plasma AMH levels were significantly higher in women with polycystic ovarian syndrome. The significant association was seen between FSH and AFC with AMH. However, no significant association was observed between AMH levels with age, BMI, ovarian volume and type of treatment protocols. The serum AMH measurement was significantly higher in PCOS patients. No association with type of treatment protocol was obtained.

[Constitutional syndrome: clinical entity or a mixed bag].

PubMed

Suárez-Ortega, Saturnino; Puente-Fernández, Alicia; Santana-Baez, Sergio; Godoy-Díaz, Davinia; Serrano-Fuentes, Miriam; Sanz-Peláez, Oscar

2013-01-01

Fatigue, anorexia and involuntary weight loss have been included under the term constitutional syndrome. These manifestations accompany many diseases in which the diagnosis is made by specific symptoms and signs. However, these events are generally the main reason for consultation and the patient does not report other specific data. This forces us to rigorously investigate the possible causes of the disorder. Usually, three manifestations coexist: asthenia, anorexia and weight loss, but sometimes the patient has only one or two of them. The causes of constitutional symptoms are varied and can be divided into three groups: psychiatric diseases, neoplasms and non-neoplastic diseases. The etiological identification is usually done with a simple protocol, which rules out malignancy; the rest of the cases of uncertain etiology are subject to evolution. The constitutional syndrome correlates well with good prognosis or medical functional processes. Although no clinical guidelines have been developed, score scales may help for the etiological assessment. Given the myriad of different causes of the constitutional syndrome, the treatment of this illness depends primarily on the etiology.

A Prospective Examination of Weight Gain in Hospitalized Adolescents With Anorexia Nervosa on a Recommended Refeeding Protocol

PubMed Central

Garber, Andrea K.; Michihata, Nobuaki; Hetnal, Katherine; Shafer, Mary-Ann; Moscicki, Anna-Barbara

2015-01-01

Purpose Current refeeding recommendations for adolescents hospitalized with anorexia nervosa (AN) are conservative, starting with low calories and advancing slowly to avoid refeeding syndrome. The purpose of this study was to examine weight change and clinical outcomes in hospitalized adolescents with AN on a recommended refeeding protocol. Methods Adolescents aged 13.1–20.5 years were followed during hospitalization for AN. Weight, vital signs, electrolytes, and 24-hour fluid balance were measured daily. Percent median body mass index (%MBMI) was calculated as 50th percentile BMI for age and gender. Calories were prescribed on admission and were increased every other day. Results Thirty-five subjects with a mean (SD) age of 16.2 (1.9) years participated over 16.7 (6.4) days. Calories increased from 1,205 (289) to 2,668 (387). No subjects had refeeding syndrome; 20% had low serum phosphorus. Percent MBMI increased from 80.1 (11.5) to 84.5 (9.6); overall gain was 2.10 (1.98) kg. However, 83% of subjects initially lost weight. Mean %MBMI did not increase significantly until day 8. Higher calories prescribed at baseline were significantly associated with faster weight gain (p = .003) and shorter hospital stay (p = .030) in multivariate regression models adjusted for %MBMI and lowest heart rate on admission. Conclusions Hospitalized adolescents with AN demonstrated initial weight loss and slow weight gain on a recommended refeeding protocol. Higher calorie diets instituted at admission predicted faster weight gain and shorter hospital stay. These findings support the development of more aggressive feeding strategies in adolescents hospitalized with AN. Further research is needed to identify caloric and supplementation regimens to maximize weight gain safely while avoiding refeeding syndrome. PMID:22188830

Metabolic syndrome after pediatric liver transplantation.

PubMed

Kosola, Silja; Lampela, Hanna; Makisalo, Heikki; Lohi, Jouko; Arola, Johanna; Jalanko, Hannu; Pakarinen, Mikko

2014-10-01

Half of adult liver transplantation (LT) recipients develop metabolic syndrome, but the prevalence after childhood LT remains unknown. We conducted a national cross-sectional study of all living patients who had undergone LT between 1987 and 2007 at an age less than 18 years. We gathered information on blood pressure, body composition, serum lipids, glucose metabolism, and histological liver fat content. The diagnostic criteria for metabolic syndrome of the American Heart Association and the International Diabetes Federation were used. After a median post-LT follow-up time of 12 years, half of all patients had no components of metabolic syndrome. The prevalence of overweight/obesity was 20%, and the prevalence of hypertension was 24%. Serum triglycerides were high in 9%, and high-density lipoprotein levels were low in 23%. Fasting glucose levels were impaired in 14%, but none had diabetes. Altogether, 9 patients (14%) had metabolic syndrome. Moderate liver steatosis found in protocol liver biopsy samples was associated with the accumulation of metabolic syndrome features (P = 0.01). No significant associations were found between immunosuppressive medications and metabolic syndrome. In conclusion, the prevalence of metabolic syndrome after childhood LT is similar to the prevalence in the general population of the same age. Guidelines for the general population, therefore, seem valid for the prevention and treatment of metabolic syndrome after pediatric LT as well. © 2014 American Association for the Study of Liver Diseases.

[Aerobic training improves antioxidant defense system in women with metabolic syndrome].

PubMed

Rosety-Rodríguez, Manuel; Díaz-Ordoñez, Antonio; Rosety, Ignacio; Fornieles, Gabriel; Camacho-Molina, Alejandra; García, Natalia; Rosety, Miguel Angel; Ordoñez, Francisco J

2012-01-01

A 12-week training protocol increased antioxidant defense system in young adult women with metabolic syndrome. It is generally accepted that oxidative stress is implicated in the pathogenesis of metabolic syndrome. Furthermore, recent studies have reported that stress may be acting as a therapeutic target in metabolic syndrome. Consequently, this study was designed to explore whether aerobic training may increase plasmatic total antioxidant status in women with metabolic syndrome. A total of 100 young adult women with metabolic syndrome according to the criteria reported by the National Cholesterol Education Program (Adult-Treatment-Panel-III) volunteered for this study. Of them, 60 were randomly included in the experimental group to enter a 12-week aerobic training program, 5 days/week, at low/moderate intensity. The control group included 40 age, sex and body mass index (BMI)-matched women with metabolic syndrome who did not enter any training program. Total antioxidant status (TAS) was assayed in plasma using colorimetric Randox kits. This protocol was approved by an Institutional Ethics Committee. When compared to baseline, plasmatic TAS was significantly increased (0.79 ± 0.05 Vs 1.01 ± 0.03 mmol/l; p = 0.027). No changes were found in controls. A 12-week aerobic training program increased plasmatic TAS in adult women with metabolic syndrome. Further long-term well-conducted studies are required in order to highlight the potential clinical benefits of TAS improvement.

Incidence of chemotherapy-related tumour lysis syndrome at Kenyatta National Hospital, Nairobi.

PubMed

Busakhala, W; Joshi, M D; Abinya, N O; Amayo, A; Abwao, H O

2007-03-01

To estimate the magnitude of laboratory defined Tumour Lysis Syndrome (TLS) at Kenyatta National Hospital (KNH), identify its pattern of presentation, resolution, and determine the biochemical outcome of affected patients. Prospective patient-treatment cohort study. Kenyatta National Referral and Teaching Hospital, between November 2004 and April 2005. One hundred and forty two patients receiving first course chemotherapy. Laboratory defined Tumour Lysis Syndrome (TLS). One hundred and eleven patients completed the study protocol. Forty two patients (37.8%) developed TLS. The incidence in haematological malignancies was 75.5% while in non-haematological malignancies was 3.6%. Hyperphosphataemia and hyperkalaemia were the most consistent diagnostic parameters while hyperuricaemia occurred in only one patient. No patient developed hypocalcaemia. Ninety five percent of patients developed TLS within the first three days of receiving chemotherapy while 55% resolved in the first week. Two TLS case mortalities occurred. The incidence of TLS in this cohort study was 38%, and was highest among haematological malignancies. No cases occurred in breast cancer patients. Majority of the cases were diagnosed on the basis of increase in serum phosphate and potassium; uric acid did not rise predominantly due to prophylactic uricosuric therapy. A majority (95%) developed within three days of commencing chemotherapy.

A standardized protocol for repeated social defeat stress in mice

PubMed Central

Golden, Sam A; Covington, Herbert E; Berton, Olivier; Russo, Scott J

2011-01-01

A major impediment to novel drug development has been the paucity of animal models that accurately reflect symptoms of affective disorders. In animal models, prolonged social stress has proven to be useful in understanding the molecular mechanisms underlying affective-like disorders. When considering experimental approaches for studying depression, social defeat stress, in particular, has been shown to have excellent etiological, predictive, discriminative and face validity. Described here is a protocol whereby C57BL/6J mice that are repeatedly subjected to bouts of social defeat by a larger and aggressive CD-1 mouse results in the development of a clear depressive-like syndrome, characterized by enduring deficits in social interactions. Specifically, the protocol consists of three important stages, beginning with the selection of aggressive CD-1 mice, followed by agonistic social confrontations between the CD-1 and C57BL/6J mice, and concluding with the confirmation of social avoidance in subordinate C57BL/6J mice. The automated detection of social avoidance allows a marked increase in throughput, reproducibility and quantitative analysis. This protocol is highly adaptable, but in its most common form it requires 3–4 weeks for completion. PMID:21799487

Incidence of adrenal insufficiency and impact of corticosteroid supplementation in critically ill children with systemic inflammatory syndrome and vasopressor-dependent shock.

PubMed

Hebbar, Kiran B; Stockwell, Jana A; Leong, Traci; Fortenberry, James D

2011-05-01

Adrenal insufficiency may be common in adults and children with vasopressor-resistant shock. We developed a protocolized approach to low-dose adrenocorticotropin testing and empirical low-dose glucocorticoid/mineralocorticoid supplementation in children with systemic inflammatory response syndrome and persistent hypotension following fluid resuscitation and vasopressor infusion. We hypothesized that absolute and relative adrenal insufficiency was common in children with systemic inflammatory response syndrome requiring vasopressor support and that steroid administration would be associated with decreased vasopressor need. Retrospective review of pediatric patients with systemic inflammatory response syndrome and vasopressor-dependent shock receiving protocol-based adrenocorticotropin testing and low-dose steroid supplementation. The incidence of absolute and relative adrenal insufficiency was determined using several definitions. Vasopressor dose requirements were evaluated before, and following, initiation of corticosteroids. Seventy-eight patients met inclusion criteria for systemic inflammatory response syndrome and shock; 40 had septic shock. Median age was 84 months (range, 0.5-295). By adrenocorticotropin testing, 44 (56%) had absolute adrenal insufficiency, 39 (50%) had relative adrenal insufficiency, and 69 (88%) had either form of adrenal insufficiency. Adrenal insufficiency incidence was significantly higher in children >2 yrs (p = .0209). Therapeutic interventions included median 80-mL/kg fluid resuscitation; 65% of patients required dopamine, 58% norepinephrine, and 49% dopamine plus norepinephrine. With steroid supplementation, median dopamine dose decreased from 10 to 4 μg/kg/min at 4 hrs (p = .0001), and median dose of norepinephrine decreased from 0.175 μg/kg/min to 0.05 μg/kg/min at 4 hrs (p = .039). Absolute and relative adrenal insufficiency was prevalent in this cohort of children with systemic inflammatory response syndrome and vasopressor-dependent shock and increased with age. Introduction of steroids produced a significant reduction in vasopressor duration and dosage. Use of low-dose adrenocorticotropin testing may help further delineate populations who require steroid supplementation.

Prevention of Infection in Patients With Hematologic Cancer and Persistent Fever Caused by a Low White Blood Cell Count

ClinicalTrials.gov

2012-09-20

Bone Marrow Suppression; Fever, Sweats, and Hot Flashes; Infection; Leukemia; Lymphoma; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Unspecified Adult Solid Tumor, Protocol Specific; Unspecified Childhood Solid Tumor, Protocol Specific

Ondansetron in Treating Patients With Advanced Cancer and Chronic Nausea and Vomiting Not Caused by Cancer Treatment

ClinicalTrials.gov

2016-07-01

Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Nausea and Vomiting; Precancerous Condition; Small Intestine Cancer; Unspecified Adult Solid Tumor, Protocol Specific; Unspecified Childhood Solid Tumor, Protocol Specific

Implementation of an Intensive Care Unit-Specific Alcohol Withdrawal Syndrome Management Protocol Reduces the Need for Mechanical Ventilation.

PubMed

Heavner, Jason J; Akgün, Kathleen M; Heavner, Mojdeh S; Eng, Claire C; Drew, Matthew; Jackson, Peter; Pritchard, David; Honiden, Shyoko

2018-05-25

Alcohol use disorders are prevalent and put patients at risk for developing alcohol withdrawal syndrome (AWS). Treatment of AWS with a symptom-triggered protocol standardizes management and may avoid AWS-related complications. The objective of this study was to evaluate whether implementation of an intensive care unit (ICU)-specific, symptom-triggered protocol for management of AWS was associated with improved clinical outcomes and, in particular, would reduce the risk of patients with AWS requiring mechanical ventilation. Retrospective pre-post-protocol implementation study. Thirty-six-bed, closed medical ICU (MICU) at a large, tertiary care, teaching hospital in an urban setting. A total of 233 adults admitted to the MICU with any diagnosis of alcohol use disorders based on International Classification of Diseases, Ninth Revision codes and who received at least one dose of any benzodiazepine; of these patients, 139 were in the pre-protocol era (August 2009-January 2010 and August 2010-January 2011), and 94 were in the post-protocol era (August 2012-January 2013), after implementation of the Yale Alcohol Withdrawal Protocol (YAWP) in April 2012. The YAWP pairs a modified Minnesota Detoxification Scale with an order set that includes benzodiazepine dosing regimens and suggests adjuvant therapies. AWS was the primary reason for ICU admission (107/233 patients [45.9%]) and did not significantly vary between eras (P=0.2). Of the 233 patients included, 81.1% were male and 67.0% were white, which did not significantly differ by study era. Severity of illness at MICU admission did not significantly differ between patients in the pre-protocol and post-protocol eras (median [interquartile range] Acute Physiology and Chronic Health Evaluation [APACHE] II scores of 12 [9-17] and 12.5 [7-16], respectively, p=0.4). Median lorazepam-equivalent dose per MICU day, duration of benzodiazepine infusion, and use of adjuvant therapy were not significantly different between eras. MICU intubation was less common in the post-protocol era (36/139 patients [25.9%] pre-protocol vs 8/94 patients [8.5%] post-protocol, p=0.0009). ICU-related pneumonia was also decreased in the post-protocol era (30/139 patients [21.6%] pre-protocol vs 10/94 patients [10.6%] post-protocol, p=0.03). After adjusting for demographics, adjuvant therapies, and Acute Physiology and Chronic Health Evaluation II scores, protocol implementation was associated with a decreased odds of MICU intubation (odds ratio 0.13; 95% confidence interval 0.04-0.39). Implementation of YAWP was associated with a decreased risk of MICU intubation in patients at risk for AWS. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.

PubMed

Bakry, Doua; Aronson, Melyssa; Durno, Carol; Rimawi, Hala; Farah, Roula; Alharbi, Qasim Kholaif; Alharbi, Musa; Shamvil, Ashraf; Ben-Shachar, Shay; Mistry, Matthew; Constantini, Shlomi; Dvir, Rina; Qaddoumi, Ibrahim; Gallinger, Steven; Lerner-Ellis, Jordan; Pollett, Aaron; Stephens, Derek; Kelies, Steve; Chao, Elizabeth; Malkin, David; Bouffet, Eric; Hawkins, Cynthia; Tabori, Uri

2014-03-01

Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which data regarding clinical manifestations, molecular screening tools and management are limited. We established an international CMMRD consortium and collected comprehensive clinical and genetic data. Molecular diagnosis of tumour and germline biospecimens was performed. A surveillance protocol was developed and implemented. Overall, 22/23 (96%) of children with CMMRD developed 40 different tumours. While childhood CMMRD related tumours were observed in all families, Lynch related tumours in adults were observed in only 2/14 families (p=0.0007). All children with CMMRD had café-au-lait spots and 11/14 came from consanguineous families. Brain tumours were the most common cancers reported (48%) followed by gastrointestinal (32%) and haematological malignancies (15%). Importantly, 12 (30%) of these were low grade and resectable cancers. Tumour immunohistochemistry was 100% sensitive and specific in diagnosing mismatch repair (MMR) deficiency of the corresponding gene while microsatellite instability was neither sensitive nor specific as a diagnostic tool (p<0.0001). Furthermore, screening of normal tissue by immunohistochemistry correlated with genetic confirmation of CMMRD. The surveillance protocol detected 39 lesions which included asymptomatic malignant gliomas and gastrointestinal carcinomas. All tumours were amenable to complete resection and all patients undergoing surveillance are alive. CMMRD is a highly penetrant syndrome where family history of cancer may not be contributory. Screening tumours and normal tissues using immunohistochemistry for abnormal expression of MMR gene products may help in diagnosis and early implementation of surveillance for these children. Copyright © 2013 Elsevier Ltd. All rights reserved.

Helping Families Cope with the Severe Stress of Dravet Syndrome.

PubMed

Camfield, Peter; Camfield, Carol; Nolan, Kathleen

2016-06-01

A child with Dravet syndrome shakes family life to the core. Dravet syndrome usually has three phases: (1) up to 1-1½ years: with episodes of febrile status epilepticus but normal development; (2) age 1½ to ~6-10 years: with frequent seizures of varying types, developmental stagnation, behavioural and sleep problems; (3) after ~10 years: improvement in seizures, deteriorating gait, intellectual disability but some developmental gains. Complete seizure control is rare-simply prescribing medication is inadequate to help families. Based on structured interviews with 24 families and confirmed by more informal discussions with other families, we suggest strategies for coping with this catastrophe. A child with Dravet syndrome usually means that one parent cannot work-financial pressures should be anticipated. In Stage 1, the approach to status should include a written protocol. An indwelling catheter for rapid venous access may be helpful. In Stage 2, assistance finding qualified babysitters is required, and the extended family needs encouragement to help. Appropriate equipment, rescue medication and protocols should travel with the child. Siblings may benefit from a system of one parent "on call." An internet support group provides an invaluable lifeline. In Stage 3, family isolation may be extreme-respite care and personal time for parents are important. Death from status, accidents and SUDEP (sudden unexplained death in epilepsy) occurs in 15%. Fear of SUDEP needs to be addressed. Moving from paediatric to adult care is frightening; an epilepsy transition clinic is useful. Attention to these realities may improve the quality of life for both child and family.

Implementing a strand of a scalable fault-tolerant quantum computing fabric.

PubMed

Chow, Jerry M; Gambetta, Jay M; Magesan, Easwar; Abraham, David W; Cross, Andrew W; Johnson, B R; Masluk, Nicholas A; Ryan, Colm A; Smolin, John A; Srinivasan, Srikanth J; Steffen, M

2014-06-24

With favourable error thresholds and requiring only nearest-neighbour interactions on a lattice, the surface code is an error-correcting code that has garnered considerable attention. At the heart of this code is the ability to perform a low-weight parity measurement of local code qubits. Here we demonstrate high-fidelity parity detection of two code qubits via measurement of a third syndrome qubit. With high-fidelity gates, we generate entanglement distributed across three superconducting qubits in a lattice where each code qubit is coupled to two bus resonators. Via high-fidelity measurement of the syndrome qubit, we deterministically entangle the code qubits in either an even or odd parity Bell state, conditioned on the syndrome qubit state. Finally, to fully characterize this parity readout, we develop a measurement tomography protocol. The lattice presented naturally extends to larger networks of qubits, outlining a path towards fault-tolerant quantum computing.

[Mayer-Rokitansky-Küster-Hauser syndrome: two cases report].

PubMed

Ávila-Vergara, Marco Antonio; León-Álvarez, Damián Alfredo; López-Villegas, Miriam Nayeli; Quintero-Medrano, Samantha Melissa; Angulo-Bueno, Gladys Fabiola; Vadillo-Ortega, Felipe

2015-03-01

Agenesia of the Müllerian ducts is a low-frequency congenital disease but with devastating effects on women's reproductive health. In this paper we present two cases of women affected by Mayer-Rokitansky-Küster-Hauser syndrome (MRKH). First case was a 17-year-old woman with aplasia of the upper vagina and absence of uterus. No other defects were found and was classified as type 1-MRKH. Second case was 18-year-old woman with absence of uterus, escoliosis and polycystic ovary syndrome, classified as type II-MRKH. Patients were seen at the Hospital with primary amenorrhea and fully developed secondary sexual characteristics. A clinical follow-up protocol, including the use of high-resolution image studies was used for diagnosis. Diagnostic procedures and current medical approaches to the treatment of MRKH are discussed, including psychological advisory, surgical procedures and new tissue-engineering techniques.

Wernicke-Korsakoff syndrome (WKS) in Australia: no room for complacency.

PubMed

Feeney, Gerald F X; Connor, Jason P

2008-07-01

Australia has made a substantial contribution to the recognition and treatment of the Wernicke-Korsakoff syndrome (WKS). Much of this occurred over a generation ago, and vigilance in identifying this condition needs to be sustained. More recently, treatment protocols have been developed by the Royal College of Physicians (London). These provide guidelines on when and how to treat both patients at risk and those with acute Wernicke's encephalopathy (WE). It is not known how widespread these recommendations have been applied in Australia. We highlight these current treatment guidelines and illustrate management issues with two case reports. A decline in treatment practices in the United Kingdom prompted the development of these guidelines. Current treatment practices in Australia have not been reported. All alcohol and drug workers need to be reminded regularly of this condition and the need for prompt recognition and treatment.

Psychometric properties of health related quality of life measures in acute coronary syndrome patients: a systematic review protocol.

PubMed

Brasil, Virginia; Oliveira, Gabriela; Moraes, Katarinne Lima

2018-02-01

The objective of this systematic review is to evaluate the psychometric properties and clinical utility of patient-reported outcome measures that assess health-related quality of life in patients with a clinical diagnosis of acute coronary syndrome.

Gestational diabetes insipidus, HELLP syndrome and eclampsia in a twin pregnancy: a case report.

PubMed

Woelk, J L; Dombroski, R A; Brezina, P R

2010-02-01

We report a case of eclampsia in a twin pregnancy complicated by HELLP syndrome and diabetes insipidus. This confluence of disease processes suggests that a modification of common magnesium sulfate treatment protocols may be appropriate in a certain subset of patients.

Dual suppression with oral contraceptive pills in GnRH antagonist cycles for patients with polycystic ovary syndrome undergoing intracytoplasmic sperm injection.

PubMed

Ozmen, B; Sükür, Y E; Seval, M M; Ateş, C; Atabekoğlu, C S; Sönmezer, M; Berker, B

2014-12-01

To evaluate the effects of a gonadotropin-releasing hormone (GnRH) antagonist protocol, with or without oral contraceptive pill (OCP) pretreatment, in patients with polycystic ovary syndrome (PCOS) undergoing intracytoplasmic sperm injection (ICSI). In this retrospective cohort study, 410 infertile patients with PCOS were assessed in their first ICSI cycles between January 2006 and June 2013. In Group A (n=208), patients underwent a long luteal GnRH agonist protocol, and in Groups B (n=143) and C (n=59), patients underwent a GnRH antagonist protocol. The patients in Group C also received OCPs containing 30mg of ethinyl oestradiol and 3mg of drospirenone prior to treatment. The main outcome measures were pregnancy and ovarian hyperstimulation syndrome (OHSS) rates. Demographic features, body mass index, duration of infertility, serum baseline hormone levels, cycle outcomes, multiple pregnancy rates, miscarriage rates, OHSS rates, total number of Grade A embryos and total number of transferred embryos were comparable between the groups. Clinical pregnancy rates were 27.4%, 26.6% and 23.7% in Groups A, B and C, respectively (p=0.853). OCP pretreatment was found to have no beneficial or adverse effects in patients with PCOS undergoing a GnRH antagonist protocol for ICSI, but can be used for cycle scheduling. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

A Quasi-Experimental, Before-After Trial Examining the Impact of an Emergency Department Mechanical Ventilator Protocol on Clinical Outcomes and Lung-Protective Ventilation in Acute Respiratory Distress Syndrome.

PubMed

Fuller, Brian M; Ferguson, Ian T; Mohr, Nicholas M; Drewry, Anne M; Palmer, Christopher; Wessman, Brian T; Ablordeppey, Enyo; Keeperman, Jacob; Stephens, Robert J; Briscoe, Cristopher C; Kolomiets, Angelina A; Hotchkiss, Richard S; Kollef, Marin H

2017-04-01

To evaluate the impact of an emergency department mechanical ventilation protocol on clinical outcomes and adherence to lung-protective ventilation in patients with acute respiratory distress syndrome. Quasi-experimental, before-after trial. Emergency department and ICUs of an academic center. Mechanically ventilated emergency department patients experiencing acute respiratory distress syndrome while in the emergency department or after admission to the ICU. An emergency department ventilator protocol which targeted variables in need of quality improvement, as identified by prior work: 1) lung-protective tidal volume, 2) appropriate setting of positive end-expiratory pressure, 3) oxygen weaning, and 4) head-of-bed elevation. A total of 229 patients (186 preintervention group, 43 intervention group) were studied. In the emergency department, the intervention was associated with significant changes (p < 0.01 for all) in tidal volume, positive end-expiratory pressure, respiratory rate, oxygen administration, and head-of-bed elevation. There was a reduction in emergency department tidal volume from 8.1 mL/kg predicted body weight (7.0-9.1) to 6.4 mL/kg predicted body weight (6.1-6.7) and an increase in lung-protective ventilation from 11.1% to 61.5%, p value of less than 0.01. The intervention was associated with a reduction in mortality from 54.8% to 39.5% (odds ratio, 0.38; 95% CI, 0.17-0.83; p = 0.02) and a 3.9 day increase in ventilator-free days, p value equals to 0.01. This before-after study of mechanically ventilated patients with acute respiratory distress syndrome demonstrates that implementing a mechanical ventilator protocol in the emergency department is feasible and associated with improved clinical outcomes.

Outcomes of an inpatient medical nutritional rehabilitation protocol in children and adolescents with eating disorders.

PubMed

Peebles, Rebecka; Lesser, Andrew; Park, Courtney Cheek; Heckert, Kerri; Timko, C Alix; Lantzouni, Eleni; Liebman, Ronald; Weaver, Laurel

2017-01-01

Medical stabilization through inpatient nutritional rehabilitation is often necessary for patients with eating disorders (EDs) but includes the inherent risk of refeeding syndrome. Here we describe our experience of implementing and sustaining an inpatient nutritional rehabilitation protocol designed to strategically prepare patients with EDs and their families for discharge to a home setting in an efficient and effective manner from a general adolescent medicine unit. We report outcomes at admission, discharge, and 4-weeks follow-up. Protocol development, implementation, and unique features of the protocol, are described. Data were collected retrospectively as part of a continuous quality improvement (QI) initiative. Safety outcomes were the clinical need for phosphorus, potassium, and magnesium supplementation, other evidence of refeeding syndrome, and unexpected readmissions within one month of discharge. The value outcome was length of stay (LOS). Treatment outcomes were the percentage median BMI (MBMI) change from admission to discharge, and from discharge to 4-weeks follow-up visit. A total of 215 patients (88% F, 12% M) were included. Patients averaged 15.3 years old (5.8-23.2y); 64% had AN, 18% had atypical anorexia (AtAN), 6% bulimia nervosa (BN), 5% purging disorder (PD), 4% avoidant-restrictive food intake disorder (ARFID), and 3% had an unspecified food and eating disorder (UFED). Average LOS was 11 days. Initial mean calorie level for patients at admission was 1466 and at discharge 3800 kcals/day. Phosphorus supplementation for refeeding hypophosphatemia (RH) was needed in 14% of inpatients; full-threshold refeeding syndrome did not occur. Only 3.8% were rehospitalized in the thirty days after discharge. Patients averaged 86.1% of a median MBMI for age and gender, 91.4% MBMI at discharge, and 100.9% MBMI at 4-weeks follow-up. Mean percentage MBMI differences between time points were significantly different (admission-discharge: 5.3%, p  <0.001; discharge-follow-up: 9.2%, p  <0.001). Implementation of the CHOP inpatient nutritional rehabilitation protocol aimed at rapid, efficient, and safe weight gain and integration of caregivers in treatment of patients with diverse ED diagnoses led to excellent QI outcomes in percentage MBMI at discharge and 4-weeks follow-up, while maintaining a short LOS and low rates of RH phosphorus supplementation.

Superficial neurofibromas in the setting of schwannomatosis: nosologic implications.

PubMed

Rodriguez, Fausto J; Scheithauer, Bernd W; George, David; Midha, Rajiv; MacCollin, Mia; Stemmer-Rachamimov, Anat O

2011-05-01

First described in the past decade, schwannomatosis is a syndrome distinct from neurofibromatosis 2 (NF2). It is characterized by the development of multiple schwannomas, sparing the vestibular division of cranial nerve VIII, and may also predispose to develop meningiomas. We report two female patients, a 27 and a 44 years old who developed multiple peripheral schwannomas, but without involvement of the vestibular nerves, satisfying clinical criteria for schwannomatosis. Lack of vestibular nerve involvement was confirmed with MRI using an internal auditory canal protocol with 3 mm thick slices in both patients after age 30. Both patients developed a small neurofibroma in axillary subcutaneous tissues and a diffuse cutaneous neurofibroma of the left buttock, respectively. This report highlights that superficial neurofibromas may arise in the setting of schwannomatosis, which may have implications for the diagnostic criteria of this unique syndrome. In particular, the presence of a cutaneous neurofibroma in a patient with multiple schwannomas should not lead to a diagnosis of NF2.

Superficial neurofibromas in the setting of schwannomatosis: nosologic implications

PubMed Central

Scheithauer, Bernd W.; George, David; Midha, Rajiv; MacCollin, Mia; Stemmer-Rachamimov, Anat O.

2015-01-01

First described in the past decade, schwannomatosis is a syndrome distinct from neurofibromatosis 2 (NF2). It is characterized by the development of multiple schwannomas, sparing the vestibular division of cranial nerve VIII, and may also predispose to develop meningiomas. We report two female patients, a 27 and a 44 years old who developed multiple peripheral schwannomas, but without involvement of the vestibular nerves, satisfying clinical criteria for schwannomatosis. Lack of vestibular nerve involvement was confirmed with MRI using an internal auditory canal protocol with 3 mm thick slices in both patients after age 30. Both patients developed a small neurofibroma in axillary subcutaneous tissues and a diffuse cutaneous neurofibroma of the left buttock, respectively. This report highlights that superficial neurofibromas may arise in the setting of schwannomatosis, which may have implications for the diagnostic criteria of this unique syndrome. In particular, the presence of a cutaneous neurofibroma in a patient with multiple schwannomas should not lead to a diagnosis of NF2. PMID:21191601

Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D).

PubMed

Vasen, H F A; Ghorbanoghli, Z; Bourdeaut, F; Cabaret, O; Caron, O; Duval, A; Entz-Werle, N; Goldberg, Y; Ilencikova, D; Kratz, C P; Lavoine, N; Loeffen, J; Menko, F H; Muleris, M; Sebille, G; Colas, C; Burkhardt, B; Brugieres, L; Wimmer, K

2014-05-01

Lynch syndrome (LS) is an autosomal dominant disorder caused by a defect in one of the DNA mismatch repair genes: MLH1, MSH2, MSH6 and PMS2. In the last 15 years, an increasing number of patients have been described with biallelic mismatch repair gene mutations causing a syndrome referred to as 'constitutional mismatch repair-deficiency' (CMMR-D). The spectrum of cancers observed in this syndrome differs from that found in LS, as about half develop brain tumours, around half develop digestive tract cancers and a third develop haematological malignancies. Brain tumours and haematological malignancies are mainly diagnosed in the first decade of life, and colorectal cancer (CRC) and small bowel cancer in the second and third decades of life. Surveillance for CRC in patients with LS is very effective. Therefore, an important question is whether surveillance for the most common CMMR-D-associated cancers will also be effective. Recently, a new European consortium was established with the aim of improving care for patients with CMMR-D. At a workshop of this group held in Paris in June 2013, one of the issues addressed was the development of surveillance guidelines. In 1968, criteria were proposed by WHO that should be met prior to the implementation of screening programmes. These criteria were used to assess surveillance in CMMR-D. The evaluation showed that surveillance for CRC is the only part of the programme that largely complies with the WHO criteria. The values of all other suggested screening protocols are unknown. In particular, it is questionable whether surveillance for haematological malignancies improves the already favourable outcome for patients with these tumours. Based on the available knowledge and the discussions at the workshop, the European consortium proposed a surveillance protocol. Prospective collection of all results of the surveillance is needed to evaluate the effectiveness of the programme.

Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches.

PubMed

Bonnet, Crystel; El-Amraoui, Aziz

2012-02-01

Usher syndrome (USH) is the most prevalent cause of hereditary deafness-blindness in humans. In this review, we pinpoint new insights regarding the molecular mechanisms defective in this syndrome, its molecular diagnosis and prospective therapies. Animal models wherein USH proteins were targeted at different maturation stages of the auditory hair cells have been engineered, shedding new light on the development and functioning of the hair bundle, the sound receptive structure. Improved protocols and guidelines for early molecular diagnosis of USH (USH genotyping microarrays, otochips and complete Sanger sequencing of the 366 coding exons of identified USH genes) have been developed. Approaches to alleviate or cure hearing and visual impairments have been initiated, leading to various degrees of functional rescuing. Whereas the mechanisms underlying hearing impairment in USH patients are being unraveled, showing in particular that USH1 proteins are involved in the shaping of the hair bundle and the functioning of the mechanoelectrical transduction machinery, the mechanisms underlying the retinal defects are still unclear. Efforts to improve clinical diagnosis have been successful. Yet, despite some encouraging results, further development of therapeutic approaches is necessary to ultimately treat this dual sensory defect.

Cochlear implantation in children with Jervell and Lange-Nielsen syndrome - a cautionary tale.

PubMed

Broomfield, Stephen J; Bruce, Iain A; Henderson, Lise; Ramsden, Richard T; Green, Kevin M J

2012-08-01

Jervell and Lange-Nielsen (JLN) syndrome is a rare cause of congenital profound hearing loss associated with a prolonged QT interval on the electrocardiogram. Children presenting for cochlear implantation with this condition may be asymptomatic but are at risk of sudden death. SCREENING AND SUBSEQUENT: careful management is therefore required to ensure a successful outcome. We present our experience of cochlear implantation in children with JLN syndrome, including two who died unexpectedly, and suggest a protocol for management of such cases. Clinical presentation Four cases of cochlear implantation in JLN syndrome are described. None had any previous cardiological family history. Two were diagnosed pre-operatively but, despite appropriate management under a cardiologist, died from cardiac arrest; the first in the perioperative period following reimplantation for infection, and the second unrelated to his cochlear implant surgery. The other two patients were diagnosed only subsequent to their implantation and continue to use their implants successfully. These cases highlight the variation in presentation of JLN syndrome, and the spectrum of disease severity that exists. Our protocol stresses the importance of careful assessment and counselling of parents by an experienced implant team.

Pelvic Muscle Rehabilitation: A Standardized Protocol for Pelvic Floor Dysfunction

PubMed Central

Pedraza, Rodrigo; Nieto, Javier; Ibarra, Sergio; Haas, Eric M.

2014-01-01

Introduction. Pelvic floor dysfunction syndromes present with voiding, sexual, and anorectal disturbances, which may be associated with one another, resulting in complex presentation. Thus, an integrated diagnosis and management approach may be required. Pelvic muscle rehabilitation (PMR) is a noninvasive modality involving cognitive reeducation, modification, and retraining of the pelvic floor and associated musculature. We describe our standardized PMR protocol for the management of pelvic floor dysfunction syndromes. Pelvic Muscle Rehabilitation Program. The diagnostic assessment includes electromyography and manometry analyzed in 4 phases: (1) initial baseline phase; (2) rapid contraction phase; (3) tonic contraction and endurance phase; and (4) late baseline phase. This evaluation is performed at the onset of every session. PMR management consists of 6 possible therapeutic modalities, employed depending on the diagnostic evaluation: (1) down-training; (2) accessory muscle isolation; (3) discrimination training; (4) muscle strengthening; (5) endurance training; and (6) electrical stimulation. Eight to ten sessions are performed at one-week intervals with integration of home exercises and lifestyle modifications. Conclusions. The PMR protocol offers a standardized approach to diagnose and manage pelvic floor dysfunction syndromes with potential advantages over traditional biofeedback, involving additional interventions and a continuous pelvic floor assessment with management modifications over the clinical course. PMID:25006337

Hypothetical performance of syndrome-based management of acute paediatric admissions of children aged more than 60 days in a Kenyan district hospital.

PubMed Central

English, Mike; Berkley, James; Mwangi, Isiah; Mohammed, Shebbe; Ahmed, Maimuna; Osier, Faith; Muturi, Neema; Ogutu, Bernhards; Marsh, Kevin; Newton, Charles R. J. C.

2003-01-01

OBJECTIVE: To investigate whether the outpatient, syndrome-based approach of the Integrated Management of Childhood Illness (IMCI) protocol could be extended to the inpatient arena to give clear and simple minimum standards of care for poorly resourced facilities. METHODS: A prospective, one-year admission cohort retrospectively compared hypothetical performance of syndrome-based management with paediatrician-defined final diagnosis. Admission syndrome definitions were based on local adaptations to the IMCI protocol that encompassed 20 clinical features, measurement of oxygen saturation, and malaria microscopy. FINDINGS: After 315 children with clinically obvious diagnoses (e.g. sickle cell disease and burns) were excluded, 3705 admission episodes were studied. Of these, 2334 (63%) met criteria for at least one severe syndrome (mortality 8% vs <1% for "non-severe" cases), and half of these had features of two or more severe syndromes. No cases of measles were seen. Syndrome-based treatment would have been appropriate (sensitivity >95%) for severe pneumonia, severe malaria, and diarrhoea with severe dehydration, and probably for severe malnutrition (sensitivity 71%). Syndrome-directed treatment suggested the use of broad-spectrum antibiotics in 75/133 (56% sensitivity) children with bacteraemic and 63/71 (89% sensitivity) children with meningitis. CONCLUSIONS: Twenty clinical features, oxygen saturation measurements, and results of malaria blood slides could be used for inpatient, syndrome-based management of acute paediatric admissions. The addition of microscopy of the cerebrospinal fluid and haemoglobin measurements would improve syndrome-directed treatment considerably. This approach might rationalize admission policy and standardize inpatient paediatric care in resource-poor countries, although the clinical detection of bacteraemia remains a problem. PMID:12764512

Stiff Left Atrial Syndrome: A Complication Undergoing Radiofrequency Catheter Ablation for Atrial Fibrillation.

PubMed

Yang, Yufan; Liu, Qiming; Wu, Zhihong; Li, Xuping; Xiao, Yichao; Tu, Tao; Zhou, Shenghua

2016-07-01

Radiofrequency catheter ablation for atrial fibrillation is an effective approach for treating atrial fibrillation. Its complications have attracted much attention, of which the stiff left atrial syndrome is a recently discovered complication that has not been completely understood. This study aims to investigate the concept, pathologic basis, clinical characteristics, predictors, and treatment protocols of the stiff left atrial syndrome after radiofrequency ablation for atrial fibrillation. © 2016 Wiley Periodicals, Inc.

Setting up a clinical trial for a novel disease: a case study of the Doxycycline for the Treatment of Nodding Syndrome Trial – challenges, enablers and lessons learned

PubMed Central

Anguzu, Ronald; Akun, Pamela R; Ogwang, Rodney; Shour, Abdul Rahman; Sekibira, Rogers; Ningwa, Albert; Nakamya, Phellister; Abbo, Catherine; Mwaka, Amos D; Opar, Bernard; Idro, Richard

2018-01-01

ABSTRACT A large amount of preparation goes into setting up trials. Different challenges and lessons are experienced. Our trial, testing a treatment for nodding syndrome, an acquired neurological disorder of unknown cause affecting thousands of children in Eastern Africa, provides a unique case study. As part of a study to determine the aetiology, understand pathogenesis and develop specific treatment, we set up a clinical trial in a remote district hospital in Uganda. This paper describes our experiences and documents supportive structures (enablers), challenges faced and lessons learned during set-up of the trial. Protocol development started in September 2015 with phased recruitment of a critical study team. The team spent 12 months preparing trial documents, procurement and training on procedures. Potential recruitment sites were pre-visited, and district and local leaders met as key stakeholders. Key enablers were supportive local leadership and investment by the district and Ministry of Health. The main challenges were community fears about nodding syndrome, adverse experiences of the community during previous research and political involvement. Other challenges included the number and delays in protocol approvals and lengthy procurement processes. This hard-to-reach area has frequent power and Internet fluctuations, which may affect cold chains for study samples, communication and data management. These concerns decreased with a pilot community engagement programme. Experiences and lessons learnt can reduce the duration of processes involved in trial-site set-up. A programme of community engagement and local leader involvement may be key to the success of a trial and in reducing community opposition towards participation in research. PMID:29382251

Setting up a clinical trial for a novel disease: a case study of the Doxycycline for the Treatment of Nodding Syndrome Trial - challenges, enablers and lessons learned.

PubMed

Anguzu, Ronald; Akun, Pamela R; Ogwang, Rodney; Shour, Abdul Rahman; Sekibira, Rogers; Ningwa, Albert; Nakamya, Phellister; Abbo, Catherine; Mwaka, Amos D; Opar, Bernard; Idro, Richard

2018-01-01

A large amount of preparation goes into setting up trials. Different challenges and lessons are experienced. Our trial, testing a treatment for nodding syndrome, an acquired neurological disorder of unknown cause affecting thousands of children in Eastern Africa, provides a unique case study. As part of a study to determine the aetiology, understand pathogenesis and develop specific treatment, we set up a clinical trial in a remote district hospital in Uganda. This paper describes our experiences and documents supportive structures (enablers), challenges faced and lessons learned during set-up of the trial. Protocol development started in September 2015 with phased recruitment of a critical study team. The team spent 12 months preparing trial documents, procurement and training on procedures. Potential recruitment sites were pre-visited, and district and local leaders met as key stakeholders. Key enablers were supportive local leadership and investment by the district and Ministry of Health. The main challenges were community fears about nodding syndrome, adverse experiences of the community during previous research and political involvement. Other challenges included the number and delays in protocol approvals and lengthy procurement processes. This hard-to-reach area has frequent power and Internet fluctuations, which may affect cold chains for study samples, communication and data management. These concerns decreased with a pilot community engagement programme. Experiences and lessons learnt can reduce the duration of processes involved in trial-site set-up. A programme of community engagement and local leader involvement may be key to the success of a trial and in reducing community opposition towards participation in research.

Developing a service user informed intervention to improve participation and ability to perform daily activities in primary Sjögren's syndrome: a mixed-methods study protocol

PubMed Central

Hackett, Katie L; Newton, Julia L; Deane, Katherine H O; Rapley, Tim; Deary, Vincent; Kolehmainen, Niina; Lendrem, Dennis; Ng, Wan-Fai

2014-01-01

Introduction A significant proportion of patients with primary Sjögren's syndrome (PSS) is functionally impaired and experience difficulties participating in various aspects of everyday life. There is currently no evidence of efficacy for non-pharmacological interventions aimed specifically at supporting the patients with PSS to improve their participation and ability to perform daily activities. This paper describes a research protocol for a mixed-methods study to develop an intervention to improve these outcomes. The protocol follows the Medical Research Council framework for complex interventions. Methods and analysis We will use group concept mapping with the patients, adults who live with them and healthcare professionals to identify factors which prevent people with PSS from participating in daily life and performing daily activities. The factors will be prioritised by participants for importance and feasibility and will inform an intervention to be delivered within a National Health Service (NHS) setting. Evidence-based intervention techniques will be identified for the prioritised factors and combined into a deliverable intervention package. Key stakeholders will comment on the intervention content and mode of delivery through focus groups, and the data will be used to refine the intervention. The acceptability and feasibility of the refined intervention will be evaluated in a future study. Ethics and dissemination The study has been approved by an NHS Research Ethics Committee, REC Reference: 13/NI/0190. The findings of this study will be disseminated in peer-reviewed journals and through presentation at national and international conferences. Trial registration number UKCRN Study ID: 15939. PMID:25146718

The Combined Intervention with Germinated Vigna radiata and Aerobic Interval Training Protocol Is an Effective Strategy for the Treatment of Non-Alcoholic Fatty Liver Disease (NAFLD) and Other Alterations Related to the Metabolic Syndrome in Zucker Rats.

PubMed

Kapravelou, Garyfallia; Martínez, Rosario; Nebot, Elena; López-Jurado, María; Aranda, Pilar; Arrebola, Francisco; Cantarero, Samuel; Galisteo, Milagros; Porres, Jesus M

2017-07-19

Metabolic syndrome (MetS) is a group of related metabolic alterations that increase the risk of developing non-alcoholic fatty liver disease (NAFLD). Several lifestyle interventions based on dietary treatment with functional ingredients and physical activity are being studied as alternative or reinforcement treatments to the pharmacological ones actually in use. In the present experiment, the combined treatment with mung bean ( Vigna radiata ), a widely used legume with promising nutritional and health benefits that was included in the experimental diet as raw or 4 day-germinated seed flour, and aerobic interval training protocol (65-85% VO₂ max) has been tested in lean and obese Zucker rats following a 2 × 2 × 2 (2 phenotypes, 2 dietary interventions, 2 lifestyles) factorial ANOVA (Analysis of Variance) statistical analysis. Germination of V. radiata over a period of four days originated a significant protein hydrolysis leading to the appearance of low molecular weight peptides. The combination of 4 day-germinated V. radiata and aerobic interval training was more efficient compared to raw V. radiata at improving the aerobic capacity and physical performance, hepatic histology and functionality, and plasma lipid parameters as well as reverting the insulin resistance characteristic of the obese Zucker rat model. In conclusion, the joint intervention with legume sprouts and aerobic interval training protocol is an efficient treatment to improve the alterations of glucose and lipid metabolism as well as hepatic histology and functionality related to the development of NAFLD and the MetS.

Developing a service user informed intervention to improve participation and ability to perform daily activities in primary Sjögren's syndrome: a mixed-methods study protocol.

PubMed

Hackett, Katie L; Newton, Julia L; Deane, Katherine H O; Rapley, Tim; Deary, Vincent; Kolehmainen, Niina; Lendrem, Dennis; Ng, Wan-Fai

2014-08-21

A significant proportion of patients with primary Sjögren's syndrome (PSS) is functionally impaired and experience difficulties participating in various aspects of everyday life. There is currently no evidence of efficacy for non-pharmacological interventions aimed specifically at supporting the patients with PSS to improve their participation and ability to perform daily activities. This paper describes a research protocol for a mixed-methods study to develop an intervention to improve these outcomes. The protocol follows the Medical Research Council framework for complex interventions. We will use group concept mapping with the patients, adults who live with them and healthcare professionals to identify factors which prevent people with PSS from participating in daily life and performing daily activities. The factors will be prioritised by participants for importance and feasibility and will inform an intervention to be delivered within a National Health Service (NHS) setting. Evidence-based intervention techniques will be identified for the prioritised factors and combined into a deliverable intervention package. Key stakeholders will comment on the intervention content and mode of delivery through focus groups, and the data will be used to refine the intervention. The acceptability and feasibility of the refined intervention will be evaluated in a future study. The study has been approved by an NHS Research Ethics Committee, REC Reference: 13/NI/0190. The findings of this study will be disseminated in peer-reviewed journals and through presentation at national and international conferences. UKCRN Study ID: 15939. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Residual vein thrombosis and onset of post-thrombotic syndrome: influence of the 4G/5G polymorphism of plasminogen activator inhibitor-1 gene.

PubMed

Incalcaterra, Egle; Meli, Francesco; Muratori, Ida; Corrado, Egle; Amato, Corrado; Canino, Baldassare; Ferrara, Filippo

2014-03-01

Plasminogen activator inhibitor-1 (PAI-1) is the most important inhibitor of plasminogen activator. The functional 4G/5G polymorphism of the gene coding for PAI-1 may affect PAI-1 plasmatic activity, influencing the imbalance between coagulation and fibrinolysis cascades. In this prospective cohort analytic study, we investigated the role of this single nucleotide polymorphism in the persistence of thrombotic lesion and the occurrence of post-thrombotic syndrome. In a group of 168 patients with post-surgical deep vein thrombosis of the legs, we analyzed the 4G/5G polymorphism in the promoter of PAI-1 gene and plasmatic PAI-1 activity. Enrolled patients were divided in two groups: patients with 4G/5G polymorphism and increased PAI-1 activity (n=85) and patients without 4G/5G polymorphism and normal PAI-1 activity (n=83). All patients were treated according to current protocols and re-examined after 3, 12 and 36 months in order to evaluate the persistence of thrombotic lesion and the occurrence of post-thrombotic syndrome. We found a significantly increased PAI activity in carrier of the 4G allele, who experienced much more frequently a persistence of thrombosis after 3, 12 and 36 months and/or the development of post-thrombosis syndrome, in spite of the anticoagulant treatment. These data not only confirm the role played by PAI-1 activity and by the 4G/5G SNP of the PAI-1 gene, but also suggest that current therapeutic protocols, recommending the administration of low weight molecular heparin and oral anticoagulant for the treatment of deep vein thrombosis, could be non sufficient for patients genetically predisposed to a less efficient clot lysis. Copyright © 2013. Published by Elsevier Ltd.

Feasibility of corifollitropin alfa/GnRH antagonist protocol combined with GnRH agonist triggering and freeze-all strategy in polycystic ovary syndrome patients.

PubMed

Hwang, Jiann-Loung; Chen, Shee-Uan; Chen, Hen-Ju; Chen, Hsin-Fu; Yang, Yu-Shih; Chang, Chin-Hao; Seow, Kok-Min; Tzeng, Chii-Ruey; Lin, Yu-Hung

2018-06-01

The long-acting corifollitropin alfa is comparable to FSH in terms of pregnancy outcomes in normal responders and poor responders. Corifollitropin alfa has never been studied in polycystic ovary syndrome (PCOS) patients because of concerns of excessive ovarian stimulation and ovarian hyperstimulation syndrome (OHSS). The purpose of the study was to evaluate if corifollitropin alfa can be used in PCOS patients. Forty PCOS patients who were going to undergo in vitro fertilization were enrolled in this study. A single injection of corifollitropin alfa was administered on cycle day 2 or day 3. From stimulation day 8 onwards, daily FSH was administered until the day of final oocyte maturation. Cetrorelix was administered from stimulation day 5 to prevent premature LH surge. Final oocyte maturation was triggered by: acetate. All embryos were cryopreserved and replaced in subsequent cycles. All 40 patients were subjected to oocyte retrieval, and none developed moderate or severe ovarian hyperstimulation syndrome (0%, 95% CI 0-0.088). For each patient, an average of 23.4 (±7.4; 95% CI 21.0-25.7) oocytes were retrieved and a mean of 11.7 (±6.4; 95% CI 9.6-13.8) embryos were frozen. Mean serum estradiol level on the day of GnRHa triggering was 7829.9 pg/ml (±3297; 95% CI 6775-8885). The cumulated ongoing pregnancy rate after 3 frozen-thawed embryo transfers was 75.0% (95% CI 61.6%-88.4%). The results suggest that corifollitropin alfa/GnRH antagonist protocol can be used in PCOS patients, in combination with GnRHa triggering and embryo cryopreservation. Copyright © 2017. Published by Elsevier B.V.

How to implement a clinical pathway for intensive glucose regulation in acute coronary syndromes.

PubMed

de Mulder, Maarten; Zwaan, Esther; Wielinga, Yvonne; Stam, Frank; Umans, Victor A W M

2009-06-01

Hyperglycemia upon admission of myocardial infarction patients predicts inferior clinical outcomes. Current strategies investigating hyperglycemia correction mostly use glucose-driven protocols. Implementation of these often labor-intensive protocols might be facilitated with the approach of a clinical pathway. Therefore, we evaluated the implementation of our glucose-driven protocol.We adapted a protocol for use in our coronary care unit (CCU), which was implemented according to the steps of a clinical pathway. To compensate for carbohydrates in meals we additionally developed a regimen of subcutaneous insulin.Protocol adherence was facilitated with a Web-based insulin calculator. All hyperglycemic patients admitted to the CCU were eligible for treatment according to this protocol.In a 4-month period, 643 glucose measurements were obtained in hyperglycemic patients admitted to our CCU. Patients were treated intensively with IV insulin for 35 hours and had 23 glucose measurements in this time span on average. This regimen achieved a median glucose of 6.2 mmol/L. Severe hypoglycemia occurred in only 1.1% of measurements and was without severe clinical side effects.Introduction of new intensive insulin protocol according to the steps of a clinical pathway is safe and feasible. The presence of a clinical pathway coordinator and sound communication are important conditions for successful introduction, which can be further aided with a computerized calculator.

The Need for Self-Report Data in the Assessment of Stuttering Therapy Efficacy: Repetitions and Prolongations of Speech. The Stuttering Syndrome

ERIC Educational Resources Information Center

Guntupalli, Vijaya K.; Kalinowski, Joseph; Saltuklaroglu, Tim

2006-01-01

Background: Bloodstein reviewed hundreds of studies that investigated the efficacy of therapeutic protocols for ameliorating the stuttering syndrome. Surprisingly, almost all were effective in significantly reducing overtly perceptible behaviours such as repetitions and prolongations of speech sounds. These results seem highly improbable…

Nonpharmacological treatment of tics in Tourette syndrome adding videotape training to self-hypnosis.

PubMed

Lazarus, Jeffrey E; Klein, Susan K

2010-01-01

This case series examines the practicality of using a standardized method of training children in self-hypnosis (SH) methods to explore its efficiency and short-term efficacy in treating tics in patients with Tourette syndrome. The files of 37 children and adolescents with Tourette syndrome referred for SH training were reviewed, yielding 33 patients for analysis. As part of a protocol for SH training, all viewed a videotape series of a boy undergoing SH training for tic control. Improvement in tic control was abstracted from subjective patient report. Seventy-nine percent of the patients trained in this technique experienced short-term clinical response, defined as control over the average 6-week follow-up period. Of the responders, 46% achieved tic control with SH after only 2 sessions and 96% after 3 visits. One patient required 4 visits. Instruction in SH, aided by the use of videotape training, augments a protocol and probably shortens the time of training in this technique. If SH is made more accessible in this way, it will be a valuable addition to multi-disciplinary management of tic disorders in Tourette syndrome.

Efficacy and safety of a video-EEG protocol for genetic generalized epilepsies.

PubMed

De Marchi, Luciana Rodrigues; Corso, Jeana Torres; Zetehaku, Ana Carolina; Uchida, Carina Gonçalves Pedroso; Guaranha, Mirian Salvadori Bittar; Yacubian, Elza Márcia Targas

2017-05-01

Video-EEG has been used to characterize genetic generalized epilepsies (GGE). For best performance, sleep recording, photic stimulation, hyperventilation, and neuropsychological protocols are added to the monitoring. However, risks and benefits of these video-EEG protocols are not well established. The aim of this study was to analyze the efficacy and safety of a video-EEG neuropsychological protocol (VNPP) tailored for GGE and compare its value with that of routine EEG (R-EEG). We reviewed the VNPP and R-EEG of patients with GGE. We considered confirmation of the clinical suspicion of a GGE syndrome and characterization of reflex traits as benefits; and falls, injuries, psychiatric and behavioral changes, generalized tonic-clonic (GTC) seizures, and status epilepticus (SE) as the main risks of the VNPP. The VNPPs of 113 patients were analyzed. The most common epileptic syndrome was juvenile myoclonic epilepsy (85.8%). The protocol confirmed a GGE syndrome in 97 patients and 62 had seizures. Sleep recording had a provocative effect in 51.2% of patients. The second task that showed highest efficacy was praxis (39.3%) followed by hyperventilation (31.3%). Among the risks, 1.8% had GTC seizures and another 1.8%, SE. Eighteen percent of patients had persistently normal R-EEG, 72.2% of them had discharges during VNPP. Generalized tonic-clonic seizures, myoclonic status epilepticus, and repeated seizures were the main risks of VNPP present in 6 (5.31%) patients while there were no complications during R-EEG. The VNPP in GGE is a useful tool in diagnosis and characterization of reflex traits, and is a safe procedure. Its use might preclude multiple R-EEG exams. Copyright © 2017 Elsevier Inc. All rights reserved.

A secure protocol for protecting the identity of providers when disclosing data for disease surveillance

PubMed Central

Hu, Jun; Mercer, Jay; Peyton, Liam; Kantarcioglu, Murat; Malin, Bradley; Buckeridge, David; Samet, Saeed; Earle, Craig

2011-01-01

Background Providers have been reluctant to disclose patient data for public-health purposes. Even if patient privacy is ensured, the desire to protect provider confidentiality has been an important driver of this reluctance. Methods Six requirements for a surveillance protocol were defined that satisfy the confidentiality needs of providers and ensure utility to public health. The authors developed a secure multi-party computation protocol using the Paillier cryptosystem to allow the disclosure of stratified case counts and denominators to meet these requirements. The authors evaluated the protocol in a simulated environment on its computation performance and ability to detect disease outbreak clusters. Results Theoretical and empirical assessments demonstrate that all requirements are met by the protocol. A system implementing the protocol scales linearly in terms of computation time as the number of providers is increased. The absolute time to perform the computations was 12.5 s for data from 3000 practices. This is acceptable performance, given that the reporting would normally be done at 24 h intervals. The accuracy of detection disease outbreak cluster was unchanged compared with a non-secure distributed surveillance protocol, with an F-score higher than 0.92 for outbreaks involving 500 or more cases. Conclusion The protocol and associated software provide a practical method for providers to disclose patient data for sentinel, syndromic or other indicator-based surveillance while protecting patient privacy and the identity of individual providers. PMID:21486880

CUPID: a protocol of a randomised controlled trial to identify characteristics of similar Chinese patent medicines

PubMed Central

Cao, Hongbo; Zhai, Jingbo; Li, Nan; Cao, Hongxia; Lei, Xiang; Mu, Wei; Liu, Zhi; Wang, Hui; Shang, Hongcai

2014-01-01

Introduction Traditional Chinese medicine (TCM) has accumulated some experience in curing stable angina pectoris (SAP) and efficacy has been demonstrated. Chinese patent medicines, known as modern dosage forms of TCM, can attain the desired effect in clinical application only with the guidance of TCM syndrome theory. However, due to their use by a large number of persons with little knowledge of TCM theories and practices, their efficacy and reputation have been seriously affected. Method and analysis Two common syndrome types of SAP in TCM, ‘qi deficiency and blood stasis’ and ‘qi stagnation and blood stasis’, will be studied in 144 subjects from four TCM hospitals in Tianjin in China using a partial crossover design. The two syndromes will be broken down into six symptom combinations; patients will select a combination of the most distressing to them, and then will be randomised into two groups. Each group, on the basis of routine medication, will be administered one kind of Chinese patent drug: Qishenyiqi Dripping Pills or Compound Danshen Dripping Pills. The treatment characteristics of the two medicines will be evaluated with the COME-PIO method developed by our research team. Ethics and dissemination This protocol has been approved by the medical ethics committee of Tianjin University of TCM (registration number TJUTCM-EC20130005). The study is safe and reliable. Trial registration number Chinese clinical trials register ChiCTR-TTRCC-14004406. PMID:25431225

Clomiphene citrate 'stair-step' protocol vs. traditional protocol in patients with polycystic ovary syndrome: a randomized controlled trial.

PubMed

Deveci, Canan Dura; Demir, Berfu; Sengul, Ozlem; Dilbaz, Berna; Goktolga, Umit

2015-01-01

To evaluate the efficacy of the stair-step protocol using clomiphene citrate (CC) and to assess the uterine and systemic side effects in patients with polycystic ovary syndrome (PCOS). A total of 60 PCOS patients who failed to respond to 50 mg/day for 5 days of CC treatment within the cycle were randomly allocated to the control (traditional protocol) and study (stair-step protocol) groups. In the stair-step protocol,patients were treated with CC 50 mg/day for 5 days and then in nonresponsive patients, the dosage was increased to 100 mg/day for 5 days in the same cycle. Patients who failed the 50 mg/day CC treatment in the previous cycle were stimulated with 100 mg/day CC and were accepted as the control group. Ovulation and pregnancy rates, duration of treatment and uterine and systemic side effects were evaluated. Ovulation and pregnancy rates were similar between the stair-step and the control group (43.3 vs. 33.3 %, respectively) (16.7 vs. 10 %, respectively). The duration of treatment was significantly shorter in stair-step compared to traditional protocol (20.5 ± 2.0 vs. 48.6 ± 2.4 days, respectively). There were no significant differences in the systemic side effects between the groups. Uterine side effects were evaluated with endometrial thickness and uterine artery Doppler ultrasound; no significant differences were observed in stair-step compared to traditional protocol. The stair-step protocol was determined to have a significantly shorter treatment period without any detrimental effect on the ovulation and pregnancy rates.

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

Acute intraoperative heparin-induced thrombocytopenia (HIT) and thrombosis during coronary artery bypass grafting: Two case reports providing evidence for the role of preoperative LMWH in triggering sensitization.

PubMed

Khoury, M; Pitsis, A; Poumpouridou-Kioura, H; Soufla, G; Kanthou, C; Matoula, N; Angelidis, A; Melissari, E

2016-10-01

Systemic anticoagulation is necessary during cardiac surgery. To date, the only well established anticoagulation protocol involves the use of heparin. However, heparin can cause heparin-induced thrombocytopenia (HIT) a potentially life threatening immune-mediated thromboembolic syndrome. Until now, devastating consequences of HIT syndrome in patients undergoing heart surgery have been described, but only postoperatively. Here we report the development of HIT syndrome during cardiac revascularization by intra-operative heparin administration in two patients previously exposed to LMWH. We report on two patients who developed rapid and profound intravascular coagulation with severe thrombocytopenia (platelet count decreased from ≥250×10 9 /L to 50×10 9 /L) due to HIT development caused by heparin administration during coronary artery bypass graft surgery. In addition we report that fondaparinux, given intra-operatively in association with antithrombin, may be a suitable alternative anticoagulant for successfully preventing the devastating consequences of intra-operative HIT development. To our knowledge, this is the first report describing the development of acute intra-operative HIT, secondary to high-dose UFH administered for coronary revascularization, in which the unexpected presence of platelet-activating anti-PF4/heparin antibodies at surgery was explained by preoperative administration of a one-week course of LMWH but without any preoperative evidence for HIT. Copyright © 2016 Elsevier Ltd. All rights reserved.

Unresolved questions associated with the management of ventricular pre-excitation syndrome.

PubMed

Brembilla-Perrot, Béatrice; Girerd, Nicolas; Sellal, Jean-Marc

2018-05-13

many recent recommendations concern the management of pre-excitation syndrome. In clinical practice, they are sometimes difficult to use. The purpose of the authors was to discuss the main problems associated with this management. This article is protected by copyright. All rights reserved Three problems are encountered: 1) the reality of the absence of symptoms or the interpretation of atypical symptoms, 2) the electrocardiographic diagnosis of pre-excitation syndrome that can be missed and 3) the exact electrophysiological protocol and its interpretation used for the evaluation of the prognosis Because of significant progress largely related to the development of curative treatment, it seems easy to propose ablation in many patients despite the related risks of invasive studies and to minimize the invasive risk by only performing ablation for patients with at-risk pathways. However, there is a low risk of spontaneous events in truly asymptomatic patients and the indication of accessory pathway ablation should be discussed case by case. This article is protected by copyright. All rights reserved.

Fecal Calprotectin Collection Protocol

ClinicalTrials.gov

2018-01-30

Inflammatory Bowel Diseases; Irritable Bowel Syndrome; Ulcerative Colitis; Crohn Disease; Indeterminate Colitis; Chronic Diarrhea; Celiac Disease; Diverticulitis; Abdominal Pain; Distension; Weight Loss; Food Intolerance; Constipation

Evaluation of the Effectiveness of Two Morphine Protocols to Treat Neonatal Abstinence Syndrome in a Level II Nursery in a Community Hospital.

PubMed

DeAtley, Heather N; Burton, Amanda; Fraley, Michelle DeLuca; Haltom, Joan

2017-07-01

The authors sought to evaluate the impact on length of hospital stay and treatment duration of morphine after implementation of a change in the institutional protocol for managing neonatal abstinence syndrome (NAS) in an effort to improve patient outcomes. A single-center, retrospective chart review was conducted at a Level II nursery in a community hospital in Kentucky. Fifty-nine neonates born between January 1, 2014, and December 31, 2015, who were diagnosed with NAS and received morphine for treatment were included. The protocol 1 group consisted of 33 neonates who received an initial dose of morphine 0.04 mg/kg/dose administered orally every 4 hours (January 1-December 31, 2014), and the protocol 2 group consisted of 26 neonates who received an initial dose of morphine 0.06 mg/kg/dose administered orally every 3 hours (January 1-November 30, 2015), after a change in the protocol for managing NAS was implemented on January 1, 2015. Data were reviewed and compared between the two protocol groups to determine the impact that the dosage change had on length of hospital stay and morphine treatment duration. The average length of stay decreased by 7 days in the protocol 2 group compared with the protocol 1 group (21 vs 28.65 days). The average duration of treatment decreased by 7 days in the protocol 2 group compared with the protocol 1 group (18.3 vs 25.4 days). These differences between groups were not statistically significant, however, because the population size was not large enough to achieve adequate power. These results indicate that protocol 2 displayed the potential to decrease length of stay and duration of treatment compared with protocol 1 at this facility; however, balancing higher starting doses with the risk of oversedation will continue to challenge the health care team. Concern for oversedation when using the higher starting dose in protocol 2 has prompted further research (e.g., protocol 3, initial morphine 0.05 mg/kg/dose every 3 hrs). Continued research is also necessary with larger patient populations to enable generalizability to other institutions. © 2017 Pharmacotherapy Publications, Inc.

Management of starvation in a Role 1 setting.

PubMed

Jeffery, S M T; Freshwater, D A

2012-01-01

Historical reports from war and natural disasters first identified the dangers of reintroducing food after a period of starvation or malnutrition. The development of advanced nutritional support for hospitalised patients gave rise to the concept of refeeding syndrome, further highlighting the problems and leading to the development of guidelines and protocols for managing malnutrition. In this paper we present a case of starvation in the maritime setting and review the pathophysiology of starvation and refeeding. We discuss the problems associated with managing acute starvation in a Role 1 setting without access to higher medical care, and present guidance for its management.

Risk factors and clinical features of text message injuries.

PubMed

Sharan, Deepak; Ajeesh, P S

2012-01-01

Use of mobile phone and sending text message is a very common in today's life. While sending a text message the users need to use their thumb and other palm muscles extensively. The thumb most of the time adducted on the key pad of the mobile and use high force to type the letters. Studies in literature showed that text messaging has an adverse effect on musculoskeletal system of hand. But the extensive study on the type of disorders set in among the users who extensively use mobile phone for texting. This study aims at to evaluate risk factor and clinical feature of the MSD due to hand held devices. Twenty seven subjects participated in this study. Predefined protocols were used to evaluate type of MSD occurred among the subjects. The study revealed that development of tendinitis in extensor pollicis longus, myofascial pain syndrome (70.37%) of adductor pollicis, 1st interossei and extensor digitorum communis . Other associated problems diagnosed were thoracic outlet syndrome (51.85%), fibromyalgia syndrome (25.93%), hypothyroidism (7.41%), wrist tendinitis (14.81%) and De Quervain's syndrome (7.41%). It has been observed that the pathology were tendinitis of extensor pollicis longus, myofascial pain syndrome of thenar muscles and 1st interossei, extensor digitorum communis.

Fluid resuscitation for major burn patients with the TMMU protocol.

PubMed

Luo, Gaoxing; Peng, Yizhi; Yuan, Zhiqiang; Cheng, Wenguang; Wu, Jun; Tang, Jin; Huang, Yuesheng; Fitzgerald, Mark

2009-12-01

Fluid resuscitation is one of the critical treatments for the major burn patient in the early phases after injury. We evaluated the practice of fluid resuscitation for severely burned patients with the Third Military Medical University (TMMU) protocol, which is most widely used in many regions of China. Patients with major burns (>30% total body surface area (TBSA)) presenting to Southwest Hospital, Third Military Medical University, between January 2005 and October 2007, were included in this study. Fluid resuscitation was initiated by the TMMU protocol. A total of 71 patients were (46 adults and 25 children) included in this study. All patients survived the first 48 h after injury smoothly and none developed abdominal compartment syndrome or other recognised complications associated with fluid resuscitation. The average quantity of fluid infused was 3.3-61.33% more than that calculated based on the TMMU protocol in both adult and paediatric groups. The average urine output during the first 24h after injury was about 1.2 ml per kg body weight per hour in the two groups, but reached 1.2 ml and 1.7 ml during the second 24h in adult and pediatric groups, respectively. This study indicates that the TMMU protocol for fluid resuscitation is a feasible option for burn patients. Individualised resuscitation - guided by the physiological response to fluid administration - is still important as in other protocols.

Monoclonal Antibody Therapy in Treating Patients With Advanced Cancer

ClinicalTrials.gov

2010-03-12

Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Precancerous/Nonmalignant Condition; Unspecified Adult Solid Tumor, Protocol Specific

Decitabine in Treating Patients With Melanoma or Other Advanced Cancer

ClinicalTrials.gov

2013-02-13

Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Precancerous Condition; Unspecified Adult Solid Tumor, Protocol Specific

The prevention of ovarian hyperstimulation syndrome.

PubMed

Corbett, Shannon; Shmorgun, Doron; Claman, Paul

2014-11-01

To review the clinical aspects of ovarian hyperstimulation syndrome and provide recommendations on its prevention. Preventative measures, early recognition, and prompt systematic supportive care will help avoid poor outcomes. Establish guidelines to assist in the prevention of ovarian hyperstimulation syndrome, early recognition of the condition when it occurs, and provision of appropriate supportive measures in the correct setting. Published literature was retrieved through searches of Medline, Embase, and the Cochrane Library from 2011 to 2013 using appropriate controlled vocabulary ([OHSS] ovarian hyperstimulation syndrome and: agonist IVF, antagonist IVF, metformin, HCG, gonadotropin, coasting, freeze all, agonist trigger, progesterone) and key words (ovarian hyperstimulation syndrome, ovarian stimulation, gonadotropin, human chorionic gonadotropin, prevention). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies published in English. There were no date restrictions. Searches were updated on a regular basis and incorporated in the guideline to February 2013. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table 1). Summary Statements 1. The particular follicle-stimulating hormone formulation used for ovarian stimulation does not affect the incidence of ovarian hyperstimulation syndrome. (I) 2. Coasting may reduce the incidence of severe ovarian hyperstimulation syndrome. (III) 3. Coasting for longer than 3 days reduces in vitro fertilization pregnancy rates. (II-2) 4. The use of either luteinizing hormone or human chorionic gonadotropin for final oocyte maturation does not influence the incidence of ovarian hyperstimulation syndrome. (I) 5. There is no clear published evidence that lowering the human chorionic gonadotropin dose will result in a decrease in the rate of ovarian hyperstimulation syndrome. (III) 6. Cabergoline starting from the day of human chorionic gonadotropin reduces the incidence of ovarian hyperstimulation syndrome in patients at higher risk and does not appear to lower in vitro fertilization pregnancy rates. (II-2) 7. Avoiding pregnancy by freezing all embryos will prevent severe prolonged ovarian hyperstimulation syndrome in patients at high risk. (II-2) 8. Pregnancy rates are not affected when using gonadotropin-releasing hormone (GnRH) agonists in GnRH antagonist protocols for final egg maturation when embryos are frozen by vitrification for later transfer. (II-2) Recommendations 1. The addition of metformin should be considered in patients with polycystic ovarian syndrome who are undergoing in vitro fertilization because it may reduce the incidence of ovarian hyperstimulation syndrome. (I-A) 2. Gonadotropin dosing should be carefully individualized, taking into account the patient's age, body mass, antral follicle count, and previous response to gonadotropins. (II-3B) 3. Cycle cancellation before administration of human chorionic gonadatropin is an effective strategy for the prevention of ovarian hyperstimulation syndrome, but the emotional and financial burden it imposes on patients should be considered before the cycle is cancelled. (III-C) 4. Gonadotropin-releasing hormone (GnRH) antagonist stimulation protocols are recommended in patients at high risk for ovarian hyperstimulation syndrome (OHSS). The risk of severe OHSS in patients on GnRH antagonist protocols who have a very robust ovarian stimulation response can be reduced by using a GnRH agonist as a substitute for human chorionic gonadotropin to trigger final oocyte maturation. (I-B) 5. A gonadotropin-releasing hormone (GnRH) antagonist protocol with a GnRH agonist trigger for final oocyte maturation is recommended for donor oocyte and fertility preservation cycles. (III-C) 6. Albumin or other plasma expanders at the time of egg retrieval are not recommended for the prevention of ovarian hyperstimulation syndrome. (I-E) 7. Elective single embryo transfer is recommended in patients at high risk for ovarian hyperstimulation syndrome. (III-C) 8. Progesterone, rather than human chorionic gonadotropin, should be used for luteal phase support. (I-A) 9. Outpatient culdocentesis should be considered for the prevention of disease progression in severe ovarian hyperstimulation syndrome. (II-2B).

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.

Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective.

PubMed

Dy, Marisela E; Waugh, Jeff L; Sharma, Nutan; O'Leary, Heather; Kapur, Kush; D'Gama, Alissa M; Sahin, Mustafa; Urion, David K; Kaufmann, Walter E

2017-10-01

Hand stereotypies (HS) are a primary diagnostic criterion for Rett syndrome (RTT) but are difficult to characterize and quantify systematically. We collected video on 27 girls (2-12 years of age) with classic RTT who participated in a mecasermin trial. The present study focused exclusively on video analyses, by reviewing two five-minute windows per subject to identify the two most common HS. Three raters with expertise in movement disorders independently rated the five-minute windows using standardized terminology to determine the level of agreement. We iteratively refined the protocol in three stages to improve descriptive accuracy, categorizing HS as "central" or "peripheral," "simple" or "complex," scoring each hand separately. Inter-rater agreement was analyzed using Kappa statistics. In the initial protocol evaluating HS by video, inter-rater agreement was 20.7%. In the final protocol, inter-rater agreement for the two most frequent HS was higher than the initial protocol at 50%. Phenotypic variability makes standardized evaluation of HS in RTT a challenge; we achieved only 50% level of agreement and only for the most frequent HS. Therefore, objective measures are needed to evaluate HS. Copyright © 2017 Elsevier Inc. All rights reserved.

Clinical outcomes and cost effectiveness of accelerated diagnostic protocol in a chest pain center compared with routine care of patients with chest pain.

PubMed

Asher, Elad; Reuveni, Haim; Shlomo, Nir; Gerber, Yariv; Beigel, Roy; Narodetski, Michael; Eldar, Michael; Or, Jacob; Hod, Hanoch; Shamiss, Arie; Matetzky, Shlomi

2015-01-01

The aim of this study was to compare in patients presenting with acute chest pain the clinical outcomes and cost-effectiveness of an accelerated diagnostic protocol utilizing contemporary technology in a chest pain unit versus routine care in an internal medicine department. Hospital and 90-day course were prospectively studied in 585 consecutive low-moderate risk acute chest pain patients, of whom 304 were investigated in a designated chest pain center using a pre-specified accelerated diagnostic protocol, while 281 underwent routine care in an internal medicine ward. Hospitalization was longer in the routine care compared with the accelerated diagnostic protocol group (p<0.001). During hospitalization, 298 accelerated diagnostic protocol patients (98%) vs. 57 (20%) routine care patients underwent non-invasive testing, (p<0.001). Throughout the 90-day follow-up, diagnostic imaging testing was performed in 125 (44%) and 26 (9%) patients in the routine care and accelerated diagnostic protocol patients, respectively (p<0.001). Ultimately, most patients in both groups had non-invasive imaging testing. Accelerated diagnostic protocol patients compared with those receiving routine care was associated with a lower incidence of readmissions for chest pain [8 (3%) vs. 24 (9%), p<0.01], and acute coronary syndromes [1 (0.3%) vs. 9 (3.2%), p<0.01], during the follow-up period. The accelerated diagnostic protocol remained a predictor of lower acute coronary syndromes and readmissions after propensity score analysis [OR = 0.28 (CI 95% 0.14-0.59)]. Cost per patient was similar in both groups [($2510 vs. $2703 for the accelerated diagnostic protocol and routine care group, respectively, (p = 0.9)]. An accelerated diagnostic protocol is clinically superior and as cost effective as routine in acute chest pain patients, and may save time and resources.

Clinical Outcomes and Cost Effectiveness of Accelerated Diagnostic Protocol in a Chest Pain Center Compared with Routine Care of Patients with Chest Pain

PubMed Central

Asher, Elad; Reuveni, Haim; Shlomo, Nir; Gerber, Yariv; Beigel, Roy; Narodetski, Michael; Eldar, Michael; Or, Jacob; Hod, Hanoch; Shamiss, Arie; Matetzky, Shlomi

2015-01-01

Aims The aim of this study was to compare in patients presenting with acute chest pain the clinical outcomes and cost-effectiveness of an accelerated diagnostic protocol utilizing contemporary technology in a chest pain unit versus routine care in an internal medicine department. Methods and Results Hospital and 90-day course were prospectively studied in 585 consecutive low-moderate risk acute chest pain patients, of whom 304 were investigated in a designated chest pain center using a pre-specified accelerated diagnostic protocol, while 281 underwent routine care in an internal medicine ward. Hospitalization was longer in the routine care compared with the accelerated diagnostic protocol group (p<0.001). During hospitalization, 298 accelerated diagnostic protocol patients (98%) vs. 57 (20%) routine care patients underwent non-invasive testing, (p<0.001). Throughout the 90-day follow-up, diagnostic imaging testing was performed in 125 (44%) and 26 (9%) patients in the routine care and accelerated diagnostic protocol patients, respectively (p<0.001). Ultimately, most patients in both groups had non-invasive imaging testing. Accelerated diagnostic protocol patients compared with those receiving routine care was associated with a lower incidence of readmissions for chest pain [8 (3%) vs. 24 (9%), p<0.01], and acute coronary syndromes [1 (0.3%) vs. 9 (3.2%), p<0.01], during the follow-up period. The accelerated diagnostic protocol remained a predictor of lower acute coronary syndromes and readmissions after propensity score analysis [OR = 0.28 (CI 95% 0.14–0.59)]. Cost per patient was similar in both groups [($2510 vs. $2703 for the accelerated diagnostic protocol and routine care group, respectively, (p = 0.9)]. Conclusion An accelerated diagnostic protocol is clinically superior and as cost effective as routine in acute chest pain patients, and may save time and resources. PMID:25622029

Generation of switched memory B cells in response to vaccination in Down syndrome children and their siblings.

PubMed

Valentini, Diletta; Marcellini, Valentina; Bianchi, Simona; Villani, Alberto; Facchini, Marzia; Donatelli, Isabella; Castrucci, Maria Rita; Marasco, Emiliano; Farroni, Chiara; Carsetti, Rita

2015-11-27

Immunodeficiency is an integral aspect of Down syndrome, as demonstrated by the increased susceptibility to infection of affected. Mortality is still higher than in general population, with respiratory infections among the major causes of death. As more people with Down syndrome are living today than ever before, it is indispensable to develop strategies to prevent and cure the associated disorders. Vaccination is the most successful instrument of preventive medicine. Special seasonal influenza and pneumococcal vaccination strategies have been designed for individuals with risk conditions of all ages. Down syndrome individuals are not included in the high-risk categories. We enrolled in our study 15 children with Down syndrome and their siblings, vaccinated for the first time with seasonal influenza vaccine and receiving a booster dose of a glyco-conjugated pneumococcal vaccine. We compared the immunological features and response to vaccination measuring serum antibody titers and frequency of specific memory B cells. We confirm that a severe reduction of switched memory B cells is always associated to Down syndrome. After primary vaccination Down syndrome children generate significantly less specific switched memory B cells than their siblings. The response to a booster dose of vaccine is instead comparable in both groups. The production of specific antibodies was equally effective in Down syndrome and controls both after primary and secondary immunization. Down syndrome individuals should be considered a high risk group, because of their increased susceptibility to infection and reduced number of switched memory B cells. Tailored vaccination protocols are needed in order to reduce their burden of infections throughout life. Copyright © 2015. Published by Elsevier Ltd.

Interleukin-12 Followed by Interferon Alfa in Treating Patients With Advanced Cancer

ClinicalTrials.gov

2013-01-31

Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Precancerous Condition; Unspecified Adult Solid Tumor, Protocol Specific

Registry of Older Patients With Cancer

ClinicalTrials.gov

2017-07-26

Chronic Myeloproliferative Disorders; Cognitive/Functional Effects; Leukemia; Lymphoma; Lymphoproliferative Disorder; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Unspecified Adult Solid Tumor, Protocol Specific

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.

Long-term effect of extracorporeal shock wave therapy on the treatment of chronic pelvic pain syndrome due to non bacterial prostatitis.

PubMed

Moayednia, Amir; Haghdani, Saeid; Khosrawi, Saeid; Yousefi, Elham; Vahdatpour, Babak

2014-04-01

There is limited evidence about the chronic pelvic pain syndrome (CPPS) treatment by shockwave therapy, and the aim of this study was to evaluate the effect of extracorporeal shockwave therapy on CPPS due to non bacterial prostatitis in a long-term period. In a follow-up survey, 40 patients with CPPS (that were randomly distributed into the treatment or sham groups were evaluated at 16, 20, and 24 weeks. In the treatment group, patients were treated by extracorporeal shock wave therapy (ESWT) once a week for 4 weeks by a protocol of 3000 impulses, 0.25 mJ/m(2) and 3 Hz of frequency. 0.05 mJ/m(2) were added in each week. In the sham group, the same protocol was applied, but with the probe being turned off. The follow-up assessments were done by visual analog scale for pain and National Institutes of Health-developed Chronic Prostatitis Symptom Index (NIH-CPSI). Data were compared using independent t-test or analysis of variences. Three patients did not complete the study protocol, 37 patients were evlauated (19 patients in treatment and 18 patients in the sham group). At week 24, the mean of pain score, urinary score, quality-of-life and NIH-CPSI score between two groups were not statistically different. Although, ESWT therapy as a safe and effective therapy in CPPS in short-term follow-up has been established, its long-term efficacy was not supported by this study.

Examining a New Method to Studying Velopharyngeal Structures in a Child With 22q11.2 Deletion Syndrome.

PubMed

Kollara, Lakshmi; Schenck, Graham; Jaskolka, Michael; Perry, Jamie L

2017-04-14

To date, no studies have imaged the velopharynx in children with 22q11.2 deletion syndrome (22q11.2 DS) without the use of sedation. Dysmorphology in velopharyngeal structures has been shown to have significant negative implications on speech among these individuals. This single case study was designed to assess the feasibility of a child-friendly magnetic resonance imaging (MRI) scanning protocol in this clinically challenging population and to determine the utility of this MRI protocol for future work in this area. One 6-year-old White girl diagnosed with 22q11.2 DS was imaged using a child-friendly, nonsedated MRI protocol. Quantitative and qualitative measures of the velopharyngeal area and associated structures were evaluated, and comparisons were made to age-matched control subjects with normal velopharyngeal anatomy. MRI data were successfully obtained using the child-friendly scanning protocol in the subject in the present study. Quantitative and qualitative differences of the levator muscle and associated velopharyngeal structures were noted. Using these MRI and structural analyses methods, insights related to muscle morphology can be obtained and considered as part of the research and clinical examination of children with 22q11.2 DS. The imaging protocol described in this study presents an effective means to counteract difficulties in imaging young children.

Orthodontic Treatment of Binder Syndrome: A Case Report With 5 Years of Follow-up.

PubMed

Cossellu, Gianguido; Biagi, Roberto; Faggioni, Giulia; Farronato, Giampietro

2015-07-01

We report here the case of orthodontic nonsurgical treatment in a patient with Binder syndrome. This rare syndrome (<1/10,000) is a deforming alteration of the middle third of the face, also known as maxillonasal dysplasia/dysostosis. The therapeutic approach often undertaken is an orthodontic-surgical protocol, which includes several invasive interventions such as LeFort I or II. In this patient and early diagnosis made it possible to intervene on an orthodontic level only, thus avoiding highly invasive surgical procedures (as of a 5-year follow-up).

Aortic Involvement in Pediatric Marfan syndrome: A Review.

PubMed

Ekhomu, Omonigho; Naheed, Zahra J

2015-06-01

Outlining specific protocols for the management of pediatric patients with Marfan syndrome has been challenging. This is mostly due to a dearth of clinical studies performed in pediatric patients. In Marfan syndrome, the major sources of morbidity and mortality relate to the cardiovascular system. In this review, we focus on aortic involvement seen in pediatric patients with Marfan syndrome, ranging from aortic dilatation to aortic rupture and heart failure. We discuss the histological, morphological, and pathogenetic basis of the cardiac manifestations seen in pediatric Marfan syndrome and use a specific case to depict our experienced range of cardiovascular manifestations. The survival for patients with Marfan syndrome may approach the expected survival for non-affected patients, with optimal management. With this potentiality in mind, we explore possible and actual management considerations for pediatric Marfan syndrome, examining both medical and surgical therapy modalities that can make the possibility of improved survival a reality.

A Standardized Nursing Intervention Protocol for HCT Patients

ClinicalTrials.gov

2015-06-03

Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Psychosocial Effects of Cancer and Its Treatment; Therapy-related Toxicity

Surveillance of vision and ocular disorders in children with Down syndrome.

PubMed

Stephen, Elma; Dickson, Jennifer; Kindley, A David; Scott, Christopher C; Charleton, Patricia M

2007-07-01

Children with Down syndrome have a high prevalence of ocular disorders. The UK Down's Syndrome Medical Interest Group (DSMIG) guidelines for ophthalmic screening were locally implemented into a protocol that included neonatal eye examination by an ophthalmologist and a comprehensive ophthalmological examination (cycloplegic refraction, ophthalmoscopy, and orthoptic assessment) by at least the age of 3 years, followed by preschool follow-up as indicated. We audited retrospectively surveillance for ocular disorders before and after the DSMIG-based guidelines were locally adopted in 1995. Results were compared for children born before and after the implementation of screening guidelines. A total of 81 children (43 females, 38 males) with Down syndrome were identified. After the DSMIG protocol, 34/36 children received a full ophthalmological examination in the neonatal period, compared with 9/27 children before 1995 (p<0.001). Neonatal screening resulted in the detection of cataracts in three infants. Mean age of first comprehensive ophthalmic screening outside the neonatal period was similar in the two groups (1y 6mo before guidelines vs 1y 9mo after), as were the proportion of children receiving preschool eye checks (27/30 before; 17/18 after). Overall, 65.7% children were screened in accordance with the guidelines, improving to 100% in recent years. At school age, 43% of the study population had significant refractive errors, with 27% having hypermetropia and astigmatism. Earlier prescription of glasses for refractive errors was seen (mean age 5y 6mo before guidelines; 3y 6mo after; p<0.001). Prevalence of other ocular disorders included strabismus (34/72, 47%), nasolacrimal duct obstruction (26/73, 35.6%), cataracts (5/64, 7.8%), and nystagmus (12/72, 16%). Establishment of the DSMIG-based local protocol has streamlined ocular surveillance. It is anticipated that this will improve developmental and functional outcomes in Down syndrome.

Efficacy of Extracorporeal Shock Wave Therapy for the Treatment of Chronic Pelvic Pain Syndrome: A Randomized, Controlled Trial

PubMed Central

Vahdatpour, Babak; Moayednia, Amir; Emadi, Masoud; Khorami, Mohammad Hatef; Haghdani, Saeid

2013-01-01

Objectives. To investigate the effectiveness of extracorporeal shock wave therapy (ESWT) for symptoms alleviation in chronic pelvic pain syndrome (CPPS). Materials and Methods. 40 patients with CPPS were randomly allocated into either the treatment or sham group. In the first group, patients were treated by ESWT once a week for 4 weeks by a defined protocol. In the sham group, the same protocol was applied but with the probe being turned off. The follow-up assessments were done at 1, 2, 3, and 12 weeks by Visual Analogue Scale (VAS) for pain and NIH-developed Chronic Prostatitis Symptom Index (NIH-CPSI). Results. Pain domain scores at follow-up points in both treatment and sham groups were reduced, more so in the treatment group, which were significant at weeks 2, 3, and 12. Urinary scores became significantly different at weeks 3 and 12. Also, quality of life (QOL) and total NIH-CPSI scores at all four follow-up time points reduced more significantly in the treatment group as compared to the sham group. Noticeably, at week 12 a slight deterioration in all variables was observed compared to the first 3 weeks of the treatment period. Conclusions. our findings confirmed ESWT therapy as a safe and effective method in CPPS in short term. PMID:24000311

Efficacy of extracorporeal shock wave therapy for the treatment of chronic pelvic pain syndrome: a randomized, controlled trial.

PubMed

Vahdatpour, Babak; Alizadeh, Farshid; Moayednia, Amir; Emadi, Masoud; Khorami, Mohammad Hatef; Haghdani, Saeid

2013-01-01

Objectives. To investigate the effectiveness of extracorporeal shock wave therapy (ESWT) for symptoms alleviation in chronic pelvic pain syndrome (CPPS). Materials and Methods. 40 patients with CPPS were randomly allocated into either the treatment or sham group. In the first group, patients were treated by ESWT once a week for 4 weeks by a defined protocol. In the sham group, the same protocol was applied but with the probe being turned off. The follow-up assessments were done at 1, 2, 3, and 12 weeks by Visual Analogue Scale (VAS) for pain and NIH-developed Chronic Prostatitis Symptom Index (NIH-CPSI). Results. Pain domain scores at follow-up points in both treatment and sham groups were reduced, more so in the treatment group, which were significant at weeks 2, 3, and 12. Urinary scores became significantly different at weeks 3 and 12. Also, quality of life (QOL) and total NIH-CPSI scores at all four follow-up time points reduced more significantly in the treatment group as compared to the sham group. Noticeably, at week 12 a slight deterioration in all variables was observed compared to the first 3 weeks of the treatment period. Conclusions. our findings confirmed ESWT therapy as a safe and effective method in CPPS in short term.

The psychosocial effects of the Li-Fraumeni Education and Early Detection (LEAD) program on individuals with Li-Fraumeni syndrome.

PubMed

Ross, Jessica; Bojadzieva, Jasmina; Peterson, Susan; Noblin, Sarah Jane; Yzquierdo, Rebecca; Askins, Martha; Strong, Louise

2017-09-01

In the past 5 years, new screening protocols have been developed that provide improved cancer screening options for individuals with Li-Fraumeni syndrome (LFS). Very little has been published on the psychosocial impact of these screening protocols. The goals of this study were to determine how participation in screening impacts individuals psychosocially, to examine the benefits and drawbacks of screening, and to evaluate possible barriers to continued screening. We performed a qualitative study consisting of semistructured phone interviews conducted from December 2015 to February 2016 with 20 individuals attending the LFS screening program at MD Anderson Cancer Center. Data analysis showed that benefits of screening include early detection, peace of mind, centralized screening, knowledge providing power, and screening making LFS seem more livable. Perceived drawbacks included logistical issues, difficulty navigating the system, screening being draining, and significant negative emotional reactions such as anxiety, fear, and skepticism. Regardless of the emotions that were present, 100% of participants planned on continuing screening in the program. Our data indicate that the perceived benefits of screening outweigh the drawbacks of screening. Individuals in this screening program appeared to have improved psychosocial well-being because of their access to the screening program.Genet Med advance online publication 16 March 2017.

A quantitative telomeric chromatin isolation protocol identifies different telomeric states

NASA Astrophysics Data System (ADS)

Grolimund, Larissa; Aeby, Eric; Hamelin, Romain; Armand, Florence; Chiappe, Diego; Moniatte, Marc; Lingner, Joachim

2013-11-01

Telomere composition changes during tumourigenesis, aging and in telomere syndromes in a poorly defined manner. Here we develop a quantitative telomeric chromatin isolation protocol (QTIP) for human cells, in which chromatin is cross-linked, immunopurified and analysed by mass spectrometry. QTIP involves stable isotope labelling by amino acids in cell culture (SILAC) to compare and identify quantitative differences in telomere protein composition of cells from various states. With QTIP, we specifically enrich telomeric DNA and all shelterin components. We validate the method characterizing changes at dysfunctional telomeres, and identify and validate known, as well as novel telomere-associated polypeptides including all THO subunits, SMCHD1 and LRIF1. We apply QTIP to long and short telomeres and detect increased density of SMCHD1 and LRIF1 and increased association of the shelterins TRF1, TIN2, TPP1 and POT1 with long telomeres. Our results validate QTIP to study telomeric states during normal development and in disease.

Screening Pesticides for Neuropathogenicity

PubMed Central

Doherty, John D.

2006-01-01

Pesticides are routinely screened in studies that follow specific guidelines for possible neuropathogenicity in laboratory animals. These tests will detect chemicals that are by themselves strong inducers of neuropathogenesis if the tested strain is susceptible relative to the time of administration and methodology of assessment. Organophosphate induced delayed neuropathy (OPIDN) is the only known human neurodegenerative disease associated with pesticides and the existing study guidelines with hens are a standard for predicting the potential for organophosphates to cause OPIDN. Although recent data have led to the suggestion that pesticides may be risk factors for Parkinsonism syndrome, there are no specific protocols to evaluate this syndrome in the existing study guidelines. Ideally additional animal models for human neurodegenerative diseases need to be developed and incorporated into the guidelines to further assure the public that limited exposure to pesticides is not a risk factor for neurodegenerative diseases. PMID:17047311

Prevention and treatment of exercise related leg pain in young soldiers; a review of the literature and current practice in the Dutch Armed Forces.

PubMed

Zimmermann, Wes O; Helmhout, P H; Beutler, A

2017-04-01

Overuse injuries of the leg are a common problem for young soldiers. This article reviews the literature concerning the prevention and treatment of exercise related leg pain in military settings and presents the latest developments in proposed mechanisms and treatments. Current practice and treatment protocols from the Dutch Armed Forces are reviewed, with an emphasis on the most prevalent conditions of medial tibial stress syndrome and chronic exertional compartment syndrome. The conclusion is that exercise related leg pain in the military is an occupational problem that deserves further study. 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/.

Treatment for Chronic Pain in Patients With Advanced Cancer

ClinicalTrials.gov

2016-11-25

Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Pain; Precancerous/Nonmalignant Condition; Small Intestine Cancer; Unspecified Adult Solid Tumor, Protocol Specific

Outcomes of an inpatient refeeding protocol in youth with Anorexia Nervosa and atypical Anorexia Nervosa at Children's Hospitals and Clinics of Minnesota.

PubMed

Smith, Kathryn; Lesser, Julie; Brandenburg, Beth; Lesser, Andrew; Cici, Jessica; Juenneman, Robert; Beadle, Amy; Eckhardt, Sarah; Lantz, Elin; Lock, James; Le Grange, Daniel

2016-01-01

Historically, inpatient protocols have adopted relatively conservative approaches to refeeding in Anorexia Nervosa (AN) in order to reduce the risk of refeeding syndrome, a potentially fatal constellation of symptoms. However, increasing evidence suggests that patients with AN can tolerate higher caloric prescriptions during treatment, which may result in prevention of initial weight loss, shorter hospital stays, and less exposure to the effects of severe malnutrition. Therefore the present study sought to examine the effectiveness of a more accelerated refeeding protocol in an inpatient AN and atypical AN sample. Participants were youth (ages 10-22) with AN ( n  = 113) and atypical AN ( n  = 16) who were hospitalized for medical stabilization. A retrospective chart review was conducted to assess changes in calories, weight status (percentage of median BMI, %mBMI), and indicators of refeeding syndrome, specifically hypophosphatemia, during hospitalization. Weight was assessed again approximately 4 weeks after discharge. No cases of refeeding syndrome were observed, though 47.3 % of participants evidenced hypophosphatemia during treatment. Phosphorous levels were monitored in all participants, and 77.5 % were prescribed supplemental phosphorous at the time of discharge. Higher rates of caloric changes were predictive of greater changes in %mBMI during hospitalization. Rates of caloric and weight change were not related to an increased likelihood of re-admission. Results suggest that a more accelerated approach to inpatient refeeding in youth with AN and atypical AN can be safely implemented and is not associated with refeeding syndrome, provided there is close monitoring and correction of electrolytes. These findings suggest that this approach has the potential to decrease length of stay and burden associated with inpatient hospitalization, while supporting continued progress after hospitalization.

Assessment protocols of maximum oxygen consumption in young people with Down syndrome--a review.

PubMed

Seron, Bruna Barboza; Greguol, Márcia

2014-03-01

Maximum oxygen consumption is considered the gold standard measure of cardiorespiratory fitness. Young people with Down syndrome (DS) present low values of this indicator compared to their peers without disabilities and to young people with an intellectual disability but without DS. The use of reliable and valid assessment methods provides more reliable results for the diagnosis of cardiorespiratory fitness and the response of this variable to exercise. The aim of the present study was to review the literature on the assessment protocols used to measure maximum oxygen consumption in children and adolescents with Down syndrome giving emphasis to the protocols used, the validation process and their feasibility. The search was carried out in eight electronic databases--Scopus, Medline-Pubmed, Web of science, SportDiscus, Cinhal, Academic Search Premier, Scielo, and Lilacs. The inclusion criteria were: (a) articles which assessed VO2peak and/or VO2max (independent of the validation method), (b) samples composed of children and/or adolescents with Down syndrome, (c) participants of up to 20 years old, and (d) studies performed after 1990. Fifteen studies were selected and, of these, 11 measured the VO2peak using tests performed in a laboratory, 2 used field tests and the remaining 2 used both laboratory and field tests. The majority of the selected studies used maximal tests and conducted familiarization sessions. All the studies took into account the clinical conditions that could hamper testing or endanger the individuals. However, a large number of studies used tests which had not been specifically validated for the evaluated population. Finally, the search emphasized the small number of studies which use field tests to evaluate oxygen consumption. Copyright © 2013 Elsevier Ltd. All rights reserved.

Treatment-related toxicities in children with acute lymphoblastic leukaemia predisposition syndromes.

PubMed

Schmiegelow, Kjeld

2016-12-01

Although most children with acute lymphoblastic leukaemia (ALL) do not harbor germline mutations that strongly predispose them to development of this malignancy, large syndrome registries and detailed mapping of exomes or whole genomes of familial leukaemia kindreds have revealed that 3-5% of all childhood ALL cases are due to such germline mutations, but the figure may be higher. Most of these syndromes are primarily characterized by their non-malignant phenotype, whereas ALL may be the dominating or even only striking manifestation of the syndrome in some families. Identification of such ALL patients is important in order to adjust therapy and offer genetic counseling and cancer surveillance to mutation carriers in the family. In the coming years large genomic screening projects are expected to reveal further hitherto unrecognised familial ALL syndromes. The treatment of ALL cases harboring cancer predisposing mutations can be challenging for both the physician and the patient due to their preexisting symptoms, their reduced tolerance to radio- and/or chemotherapy with enhanced risk of life-threatening organ toxicities, and the paucity of data from ALL patients with the same or similar syndromes being treated by contemporary protocols. Recent studies clearly indicate that many of these patients stand a good chance of cure, and that they should be offered chemotherapy with the intention to cure. Some of these syndromes are characterized by reduced tolerance to radiotherapy and/or specific anticancer agents, while others are not. This review summarises our current knowledge on the risk of acute toxicities for these ALL patients and provides guidance for treatment adjustments. Copyright © 2016. Published by Elsevier Masson SAS.

Initiation and Use of Propranolol for Infantile Hemangioma: Report of a Consensus Conference

PubMed Central

Frommelt, Peter C.; Chamlin, Sarah L.; Haggstrom, Anita; Bauman, Nancy M.; Chiu, Yvonne E.; Chun, Robert H.; Garzon, Maria C.; Holland, Kristen E.; Liberman, Leonardo; MacLellan-Tobert, Susan; Mancini, Anthony J.; Metry, Denise; Puttgen, Katherine B.; Seefeldt, Marcia; Sidbury, Robert; Ward, Kendra M.; Blei, Francine; Baselga, Eulalia; Cassidy, Laura; Darrow, David H.; Joachim, Shawna; Kwon, Eun-Kyung M.; Martin, Kari; Perkins, Jonathan; Siegel, Dawn H.; Boucek, Robert J.; Frieden, Ilona J.

2013-01-01

Infantile hemangiomas (IHs) are common neoplasms composed of proliferating endothelial-like cells. Despite the relative frequency of IH and the potential severity of complications, there are currently no uniform guidelines for treatment. Although propranolol has rapidly been adopted, there is significant uncertainty and divergence of opinion regarding safety monitoring, dose escalation, and its use in PHACE syndrome (PHACE = posterior fossa, hemangioma, arterial lesions, cardiac abnormalities, eye abnormalities; a cutaneous neurovascular syndrome characterized by large, segmental hemangiomas of the head and neck along with congenital anomalies of the brain, heart, eyes and/or chest wall). A consensus conference was held on December 9, 2011. The multidisciplinary team reviewed existing data on the pharmacologic properties of propranolol and all published reports pertaining to the use of propranolol in pediatric patients. Workgroups were assigned specific topics to propose protocols on the following subjects: contraindications, special populations, pretreatment evaluation, dose escalation, and monitoring. Consensus protocols were recorded during the meeting and refined after the meeting. When appropriate, protocol clarifications and revision were made and agreed upon by the group via teleconference. Because of the absence of high-quality clinical research data, evidence-based recommendations are not possible at present. However, the team agreed on a number of recommendations that arose from a review of existing evidence, including when to treat complicated IH; contraindications and pretreatment evaluation protocols; propranolol use in PHACE syndrome; formulation, target dose, and frequency of propranolol; initiation of propranolol in infants; cardiovascular monitoring; ongoing monitoring; and prevention of hypoglycemia. Where there was considerable controversy, the more conservative approach was selected. We acknowledge that the recommendations are conservative in nature and anticipate that they will be revised as more data are made available. PMID:23266923

Initiation and use of propranolol for infantile hemangioma: report of a consensus conference.

PubMed

Drolet, Beth A; Frommelt, Peter C; Chamlin, Sarah L; Haggstrom, Anita; Bauman, Nancy M; Chiu, Yvonne E; Chun, Robert H; Garzon, Maria C; Holland, Kristen E; Liberman, Leonardo; MacLellan-Tobert, Susan; Mancini, Anthony J; Metry, Denise; Puttgen, Katherine B; Seefeldt, Marcia; Sidbury, Robert; Ward, Kendra M; Blei, Francine; Baselga, Eulalia; Cassidy, Laura; Darrow, David H; Joachim, Shawna; Kwon, Eun-Kyung M; Martin, Kari; Perkins, Jonathan; Siegel, Dawn H; Boucek, Robert J; Frieden, Ilona J

2013-01-01

Infantile hemangiomas (IHs) are common neoplasms composed of proliferating endothelial-like cells. Despite the relative frequency of IH and the potential severity of complications, there are currently no uniform guidelines for treatment. Although propranolol has rapidly been adopted, there is significant uncertainty and divergence of opinion regarding safety monitoring, dose escalation, and its use in PHACE syndrome (PHACE = posterior fossa, hemangioma, arterial lesions, cardiac abnormalities, eye abnormalities; a cutaneous neurovascular syndrome characterized by large, segmental hemangiomas of the head and neck along with congenital anomalies of the brain, heart, eyes and/or chest wall). A consensus conference was held on December 9, 2011. The multidisciplinary team reviewed existing data on the pharmacologic properties of propranolol and all published reports pertaining to the use of propranolol in pediatric patients. Workgroups were assigned specific topics to propose protocols on the following subjects: contraindications, special populations, pretreatment evaluation, dose escalation, and monitoring. Consensus protocols were recorded during the meeting and refined after the meeting. When appropriate, protocol clarifications and revision were made and agreed upon by the group via teleconference. Because of the absence of high-quality clinical research data, evidence-based recommendations are not possible at present. However, the team agreed on a number of recommendations that arose from a review of existing evidence, including when to treat complicated IH; contraindications and pretreatment evaluation protocols; propranolol use in PHACE syndrome; formulation, target dose, and frequency of propranolol; initiation of propranolol in infants; cardiovascular monitoring; ongoing monitoring; and prevention of hypoglycemia. Where there was considerable controversy, the more conservative approach was selected. We acknowledge that the recommendations are conservative in nature and anticipate that they will be revised as more data are made available.

EMD 121974 in Treating Patients With Locally Advanced or Metastatic Cancer

ClinicalTrials.gov

2014-09-16

Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Precancerous/Nonmalignant Condition; Small Intestine Cancer; Unspecified Adult Solid Tumor, Protocol Specific

Live Birth after Rescue In vitro Maturation-intracytoplasmic Sperm Injection in Type 1 Diabetes, Polycystic Ovary Syndrome Patient Using Clomiphene-antagonist Protocol.

PubMed

Sankari, Samundi; Elanchezhian, M; Selvamani, Divya; Nagarajan, M; Gopikrishnan, D

2018-01-01

Infertility in patients with polycystic ovary syndrome (PCOS) associated with diabetes leads to challenging situations seeking alternative treatments. In vitro maturation (IVM) followed by intracytoplasmic sperm injection (ICSI) could overcome the challenges with promising pregnancies in such patients. In the treatment of a 32-year-old diabetic woman who also had PCOS, single immature oocyte was retrieved. Rescue IVM followed by ICSI yielded a grade 1 day 3 embryo which on transferring resulted in pregnancy and a healthy infant was delivered. Rescue IVM-ICSI could help in achieving pregnancy and live birth. Stimulation involving clomiphene and gonadotropin-releasing hormone antagonist is an effective and patient-friendly protocol for women with PCOS and diabetes and also for poor responders.

Can we Replace Arterial Blood Gas Analysis by Pulse Oximetry in Neonates with Respiratory Distress Syndrome, who are Treated According to INSURE Protocol?

PubMed Central

Niknafs, Pedram; Norouzi, Elahe; Bahman Bijari, Bahareh; Baneshi, Mohammad Reza

2015-01-01

Neonates with respiratory distress syndrome (RDS), who are treated according to INSURE protocol; require arterial blood gas (ABG) analysis to decide on appropriate management. We conducted this study to investigate the validity of pulse oximetry instead of frequent ABG analysis in the evaluation of these patients. From a total of 193 blood samples obtained from 30 neonates <1500 grams with RDS, 7.2% were found to have one or more of the followings: acidosis, hypercapnia, or hypoxemia. We found that pulse oximetry in the detection of hyperoxemia had a good validity to appropriately manage patients without blood gas analysis. However, the validity of pulse oximetry was not good enough to detect acidosis, hypercapnia, and hypoxemia. PMID:25999627

Venous Thoracic Outlet Compression and the Paget-Schroetter Syndrome: A Review and Recommendations for Management

DOE Office of Scientific and Technical Information (OSTI.GOV)

Thompson, J. F., E-mail: j.f.thompson@exeter.ac.uk; Winterborn, R. J.; Bays, S.

2011-10-15

Paget Schroetter syndrome, or effort thrombosis of the axillosubclavian venous system, is distinct from other forms of upper limb deep vein thrombosis. It occurs in younger patients and often is secondary to competitive sport, music, or strenuous occupation. If untreated, there is a higher incidence of disabling venous hypertension than was previously appreciated. Anticoagulation alone or in combination with thrombolysis leads to a high rate of rethrombosis. We have established a multidisciplinary protocol over 15 years, based on careful patient selection and a combination of lysis, decompressive surgery, and postoperative percutaneous venoplasty. During the past 10 years, a total ofmore » 232 decompression procedures have been performed. This article reviews the literature and presents the Exeter Protocol along with practical recommendations for management.« less

A Multicenter Cohort Study of Treatments and Hospital Outcomes in Neonatal Abstinence Syndrome

PubMed Central

Wexelblatt, Scott L.; Crowley, Moira; Grow, Jennifer L.; Jasin, Lisa R.; Klebanoff, Mark A.; McClead, Richard E.; Meinzen-Derr, Jareen; Mohan, Vedagiri K.; Stein, Howard; Walsh, Michele C.

2014-01-01

OBJECTIVES: To compare pharmacologic treatment strategies for neonatal abstinence syndrome (NAS) with respect to total duration of opioid treatment and length of inpatient hospital stay. METHODS: We conducted a cohort analysis of late preterm and term neonates who received inpatient pharmacologic treatment of NAS at one of 20 hospitals throughout 6 Ohio regions from January 2012 through July 2013. Physicians managed NAS using 1 of 6 regionally based strategies. RESULTS: Among 547 pharmacologically treated infants, we documented 417 infants managed using an established NAS weaning protocol and 130 patients managed without protocol-driven weaning. Regardless of the treatment opioid chosen, when we accounted for hospital variation, infants receiving protocol-based weans experienced a significantly shorter duration of opioid treatment (17.7 vs 32.1 days, P < .0001) and shorter hospital stay (22.7 vs 32.1 days, P = .004). Among infants receiving protocol-based weaning, there was no difference in the duration of opioid treatment or length of stay when we compared those treated with morphine with those treated with methadone. Additionally, infants treated with phenobarbital were treated with the drug for a longer duration among those following a morphine-based compared with methadone-based weaning protocol. (P ≤ .002). CONCLUSIONS: Use of a stringent protocol to treat NAS, regardless of the initial opioid chosen, reduces the duration of opioid exposure and length of hospital stay. Because the major driver of cost is length of hospitalization, the implications for a reduction in cost of care for NAS management could be substantial. PMID:25070317

EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome.

PubMed

Martinelli, Diego; Catteruccia, Michela; Piemonte, Fiorella; Pastore, Anna; Tozzi, Giulia; Dionisi-Vici, Carlo; Pontrelli, Giuseppe; Corsetti, Tiziana; Livadiotti, Susanna; Kheifets, Viktoria; Hinman, Andrew; Shrader, William D; Thoolen, Martin; Klein, Matthew B; Bertini, Enrico; Miller, Guy

2012-11-01

Genetically defined Leigh syndrome is a rare, fatal inherited neurodegenerative disorder that predominantly affects children. No treatment is available. EPI-743 is a novel small molecule developed for the treatment of Leigh syndrome and other inherited mitochondrial diseases. In compassionate use cases and in an FDA Expanded Access protocol, children with Leigh syndrome treated with EPI-743 demonstrated objective signs of neurologic and neuromuscular improvement. To confirm these initial findings, a phase 2A open label trial of EPI-743 for children with genetically-confirmed Leigh syndrome was conducted and herein we report the results. A single arm clinical trial was performed in children with genetically defined Leigh syndrome. Subjects were treated for 6 months with EPI-743 three times daily and all were eligible for a treatment extension phase. The primary objective of the trial was to arrest disease progression as assessed by neuromuscular and quality of life metrics. Results were compared to the reported natural history of the disease. Ten consecutive children, ages 1-13 years, were enrolled; they possessed seven different genetic defects. All children exhibited reversal of disease progression regardless of genetic determinant or disease severity. The primary endpoints--Newcastle Pediatric Mitochondrial Disease Scale, the Gross Motor Function Measure, and PedsQL Neuromuscular Module--demonstrated statistically significant improvement (p<0.05). In addition, all children had an improvement of one class on the Movement Disorder-Childhood Rating Scale. No significant drug-related adverse events were recorded. In comparison to the natural history of Leigh syndrome, EPI-743 improves clinical outcomes in children with genetically confirmed Leigh syndrome. Copyright © 2012 Elsevier Inc. All rights reserved.

Risk of bias and confounding of observational studies of Zika virus infection: A scoping review of research protocols.

PubMed

Reveiz, Ludovic; Haby, Michelle M; Martínez-Vega, Ruth; Pinzón-Flores, Carlos E; Elias, Vanessa; Smith, Emma; Pinart, Mariona; Broutet, Nathalie; Becerra-Posada, Francisco; Aldighieri, Sylvain; Van Kerkhove, Maria D

2017-01-01

Given the severity and impact of the current Zika virus (ZIKV) outbreak in the Americas, numerous countries have rushed to develop research studies to assess ZIKV and its potential health consequences. In an effort to ensure that studies are comprehensive, both internally and externally valid, and with reliable results, the World Health Organization, the Pan American Health Organization, Institut Pasteur, the networks of Fiocruz, the Consortia for the Standardization of Influenza Seroepidemiology (CONSISE) and the International Severe Acute Respiratory and Emerging Infection Consortium (ISARIC) have generated six standardized clinical and epidemiological research protocols and questionnaires to address key public health questions on ZIKV. We conducted a systematic search of ongoing study protocols related to ZIKV research. We analyzed the content of protocols of 32 cohort studies and 13 case control studies for systematic bias that could produce erroneous results. Additionally we aimed to characterize the risks of bias and confounding in observational studies related to ZIKV and to propose ways to minimize them, including the use of six newly standardized research protocols. Observational studies of ZIKV face an array of challenges, including measurement of exposure and outcomes (microcephaly and Guillain-Barré Syndrome). Potential confounders need to be measured where known and controlled for in the analysis. Selection bias due to non-random selection is a significant issue, particularly in the case-control design, and losses to follow-up is equally important for the cohort design. Observational research seeking to answer key questions on the ZIKV should consider these restrictions and take precautions to minimize bias in an effort to provide reliable and valid results. Utilization of the standardized research protocols developed by the WHO, PAHO, Institut Pasteur, and CONSISE will harmonize the key methodological aspects of each study design to minimize bias at different stages of the study. Biases need to be considered by researchers implementing the standardized protocols as well as by users of observational epidemiological studies of ZIKV.

American Ginseng in Treating Patients With Fatigue Caused by Cancer

ClinicalTrials.gov

2016-12-19

Chronic Myeloproliferative Disorders; Fatigue; Leukemia; Lymphoma; Lymphoproliferative Disorder; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Precancerous Condition; Unspecified Adult Solid Tumor, Protocol Specific

Effects of electrostimulation associated with masticatory training in individuals with down syndrome.

PubMed

Pinheiro, Denilma Lígia da Silva Alves; Alves, Giorvan Ânderson Dos Santos; Fausto, Fernanda Magda Montenegro; Pessoa, Luciane Spinelli de Figueiredo; Silva, Lidiane Assis da; Pereira, Suzana Maria de Freitas; Almeida, Larissa Nadjara Alves de

2018-01-01

Purpose Investigate and measure the effects of electrostimulation on the orofacial musculature and on the chewing, breathing and swallowing functions of individuals with Down syndrome. Methods Study participants were 16 individuals with Down syndrome (six males and 10 females) from an institutional extension project aged nine to 25 years. Speech-language pathology assessment was performed using the protocol of Orofacial Myofunctional Evaluation with Scores (OMES) pre- and post-intervention. This protocol comprised eight weekly electrostimulation sessions. Functional Electrical Stimulation (FES) current was used at a frequency of 10Hz in warm-up and 30Hz in application, intermittent stimulation (cycling pulses) with ON-time of 5s and OFF-time of 10s common to both stages, and pulse width of 200μs in warm-up and 250μs in application. Results Significant differences were observed between pre- and post-application of FES regarding cheek appearance (flaccidity and arching), tongue mobility (right and left laterality), and musculature behavior during performance of functions of the stomatognathic system: respiration, deglutition (lip behavior), and mastication (bite and trituration). Conclusion Effects of electrostimulation associated with masticatory training of the masseter muscles were statistically identified, with functional gains in chewing, breathing and swallowing performance in individuals with Down syndrome.

The role of the cilium in hereditary tumor predisposition syndromes

PubMed Central

Klasson, Timothy D.; Giles, Rachel H.

2014-01-01

The primary cilium is a highly conserved cell organelle that is closely connected to processes involved in cell patterning and replication. Amongst their many functions, cilia act as “signal towers” through which cell-cell signaling cascades pass. Dysfunction of cilia or the myriad processes that are connected with cilium function can lead to disease. Due to the sheer number of cellular processes that at some point involve the primary cilium, the effects of misregulation are highly heterogeneous between different cell populations. However, because of the importance of primary cilia in the development, growth, patterning and orientation of cells and tissues, a common thread has emerged in which defective cilia can lead to disorganization, which can contribute to the growth of neoplasms, including cancer and pre-cancerous phenotypes. Because cilia are so vital for signaling during cell replication and the cell fate decisions that are important in childhood growth, symptoms often arise early in life. Here we review recent work connecting misregulation of the primary cilium with tumor formation in a variety of tissues in the developing body, with a particular focus on the syndromes in which classic tumor genes are mutated, including von Hippel-Lindau disease (OMIM 193300), adenomatous polyposis coli (OMIM 175100), tuberous sclerosis (OMIM 191100) and Birt-Hogg-Dubé syndrome (OMIM 135150). Timely diagnosis of these syndromes is essential for entry into appropriate screening protocols, which have been shown to effectively prolong life expectancy in these cohorts of patients. PMID:27625869

Persistent inflammation, immunosuppression, and catabolism and the development of chronic critical illness after surgery.

PubMed

Efron, Philip A; Mohr, Alicia M; Bihorac, Azra; Horiguchi, Hiroyuki; Hollen, McKenzie K; Segal, Mark S; Baker, Henry V; Leeuwenburgh, Christiaan; Moldawer, Lyle L; Moore, Frederick A; Brakenridge, Scott C

2018-05-25

As early as the 1990s, chronic critical illness, a distinct syndrome of persistent high-acuity illness requiring management in the ICU, was reported under a variety of descriptive terms including the "neuropathy of critical illness," "myopathy of critical illness," "ICU-acquired weakness," and most recently "post-intensive care unit syndrome." The widespread implementation of targeted shock resuscitation, improved organ support modalities, and evidence-based protocolized ICU care has resulted in significantly decreased in-hospital mortality within surgical ICUs, specifically by reducing early multiple organ failure deaths. However, a new phenotype of multiple organ failure has now emerged with persistent but manageable organ dysfunction, high resource utilization, and discharge to prolonged care facilities. This new multiple organ failure phenotype is now clinically associated with the rapidly increasing incidence of chronic critical illness in critically ill surgery patients. Although the underlying pathophysiology driving chronic critical illness remains incompletely described, the persistent inflammation, immunosuppression, and catabolism syndrome has been proposed as a mechanistic framework in which to explain the increased incidence of chronic critical illness in surgical ICUs. The purpose of this review is to provide a historic perspective of the epidemiologic evolution of multiple organ failure into persistent inflammation, immunosuppression, and catabolism syndrome; describe the mechanism that drives and sustains chronic critical illness, and review the long-term outcomes of surgical patients who develop chronic critical illness. Copyright © 2018 Elsevier Inc. All rights reserved.

Safety, tolerability, and immunogenicity of a recombinant toxic shock syndrome toxin (rTSST)-1 variant vaccine: a randomised, double-blind, adjuvant-controlled, dose escalation first-in-man trial.

PubMed

Schwameis, Michael; Roppenser, Bernhard; Firbas, Christa; Gruener, Corina S; Model, Nina; Stich, Norbert; Roetzer, Andreas; Buchtele, Nina; Jilma, Bernd; Eibl, Martha M

2016-09-01

Staphylococcal toxic shock syndrome is a superantigen-driven potentially life-threatening disease affecting mainly young and otherwise healthy individuals. Currently, no specific treatment or preventive measure is available. We aimed to assess the safety, tolerability, and immunogenicity of a recombinant detoxified toxic shock syndrome toxin-1 variant (rTSST-1v) vaccine in adult volunteers. In this randomised, double-blind, adjuvant-controlled, dose-escalation first-in-human trial, healthy adults aged 18-64 years were enrolled from the Medical University of Vienna, Austria. Participants were randomly assigned (2:1 and 3:1) by block randomisation (block sizes of three and 12) to receive increasing doses of rTSST-1v (100 ng to 30 μg) or the adjuvant comparator aluminium hydroxide (Al(OH)3) (200 μg, 600 μg, or 1 mg). Investigators and participants were masked to group allocation. The per-protocol population received a booster immunisation 42 days after the first vaccination. The primary endpoint was safety and tolerability of rTSST-1v. The per-protocol population included all participants who had adhered to the study protocol without any major protocol deviations. The per-protocol population was the primary analysis population for immunogenicity. The trial is registered with EudraCT, number 2013-003716-50, and ClinicalTrials.gov, number NCT02340338. Between Aug 19, 2014, and April 14, 2015, 46 participants were enrolled (safety population), of whom three were assigned to cohort 1 (two to receive 100 ng rTSST-1v and one to receive 200 μg Al(OH)3), three to cohort 2 (two to receive 300 ng rTSST-1v and one to receive 600 μg Al(OH)3), four to cohort 3 (three to receive 1 μg rTSST-1v and one to receive 1 mg Al(OH)3), 12 to cohort 4 (nine to receive 3 μg rTSST-1v and three to receive 1 mg Al(OH)3), 12 to cohort 5 (nine to receive 10 μg rTSST-1v and three to receive 1 mg Al(OH)3), and 12 to cohort 6 (nine to receive 300 μg rTSST-1v and three to receive 1 mg Al(OH)3). 45 participants (98%) were included in the per-protocol population. rTSST-1v had a good safety profile, and no vaccination-related severe or serious adverse events occurred. Adverse event rates were similar between participants who received rTSST-1v and those who received placebo (26 [76%] vs 10 [83%]; p=0·62) independent of pre-existing TSST-1 immunity. rTSST-1v was safe, well-tolerated, and immunogenic. This study represents an important step in vaccine development to prevent or treat a potentially lethal disease. Biomedizinische Forschungs GmbH. Copyright © 2016 Elsevier Ltd. All rights reserved.

Introduction of an accelerated diagnostic protocol in the assessment of emergency department patients with possible acute coronary syndrome: the Nambour Short Low-Intermediate Chest pain project.

PubMed

George, Terry; Ashover, Sarah; Cullen, Louise; Larsen, Peter; Gibson, Jason; Bilesky, Jennifer; Coverdale, Steven; Parsonage, William

2013-08-01

Emergency physicians can feel pressured by opposing forces of clinical reality and the need to publish successful key performance indicators in an environment of increasing demands and cost containment. This is particularly relevant to management of patients with undifferentiated chest pain and possible acute coronary syndrome. Unreliability of clinical assessment and high risk of adverse outcomes for all concerned exist, yet national guidelines are at odds with efforts to reduce ED crowding and access block. We report findings from the Nambour Short Low-Intermediate Chest pain risk trial, which safely introduced an accelerated diagnostic protocol with reduced ED length of stay and high patient acceptability. Over a 7-month period, there were no major adverse cardiac events by 30 days in 19% of undifferentiated chest pain presentations with possible acute coronary syndrome discharged after normal sensitive cardiac troponin taken 2 h after presentation and scheduled to return for outpatient exercise stress test. © 2013 Australasian College for Emergency Medicine and Australasian Society for Emergency Medicine.

Metabolic Syndrome Components After Pediatric Liver Transplantation: Prevalence and the Impact of Obesity and Immunosuppression.

PubMed

Perito, E R; Lustig, R H; Rosenthal, P

2016-06-01

Metabolic syndrome is associated with long-term morbidity and mortality after adult liver transplantation (LT). Whether pediatric LT recipients have a higher prevalence of metabolic syndrome remains controversial. In a cross-sectional study, we evaluated pediatric LT recipients aged 8-30 years using National Health and Nutrition Examination Survey (NHANES) protocols. LT recipients were matched by gender, race/ethnicity, and age with controls from NHANES. Pediatric LT recipients (n = 83), after adjusting for overweight/obesity and glucocorticoid use, had increased prevalence of prehypertension and hypertension, impaired glucose tolerance (IGT; 2-h glucose after oral glucose tolerance test ≥140 mg/dL), and low high-density lipoprotein compared to matched NHANES controls (n = 235) despite a lower prevalence of overweight/obesity. Among LT recipients, the adjusted odds of IGT doubled for every 7.5 years taking calcineurin inhibitors (odds ratio = 2.10, 95% confidence interval 1.06-4.17 per 7.5 years taking calcineurin inhibitors, p = 0.03). Among all subjects with IGT, LT recipients had a lower prevalence of overweight/obesity and less insulin resistance (homeostatic model assessment of insulin resistance) than did controls with IGT. Among normal weight subjects, LT recipients were significantly more likely than controls to have prehypertension/hypertension, IGT, low high-density lipoprotein, and metabolic syndrome. Pediatric LT recipients have unique metabolic syndrome profiles and risk factors and will require tailored screening and management protocols. © Copyright 2016 The American Society of Transplantation and the American Society of Transplant Surgeons.

[To the issue of postreperfusion syndrome predictors in orthotopic liver transplantation (OLT)].

PubMed

Kiseleva, E A; Ushakova, I A; Kim, E F; Matveev, G P; Biriulina, N Iu; Vabishchevich, A V

2012-01-01

The aim of the study is revelation of postperfusion syndrome (pPS) predictors in orthotopic liver transplantation (OLT). Was conducted a retrospective analysis of anesthesia maintainance protocols during orthotopic liver transplantation in 261 patients aged from 6 months to 60 years. Investigated the effect of various factors on the development of PPS by the application of methods of non-parametric statistics. Significantly more frequent development of the PPS is noted in the age group from 3 to 18 years (up to 30% of patients). In recipients older than 18 years the frequency of the development of the PPS does not depend on age, with an average of 14%. The development of the PPS does not depend on the recipient sex, the nature of the pathology which served as an indication to the OTP, the initial severity of the state, type of OTP (living related donor or cadaveric transplantation, primary or re-transplantation), the transplant warm ischemia duration, use, or the lack of venous-venous bypass, metabolic status of the patient. The obtained results do not contradict to the data of foreign publications. Among parameters available for screening, predictor of PPS was not detected.

Aspergillus Colonization of the Lung Allograft is a Risk Factor for Bronchiolitis Obliterans Syndrome

PubMed Central

Weigt, S. Samuel; Elashoff, Robert M.; Huang, Cathy; Ardehali, Abbas; Gregson, Aric L.; Kubak, Bernard; Fishbein, Michael C.; Saggar, Rajeev; Keane, Michael P.; Saggar, Rajan; Lynch, Joseph P.; Zisman, David A.; Ross, David J.; Belperio, John A.

2014-01-01

Multiple infections have been linked with the development of bronchiolitis obliterans syndrome (BOS) post-lung transplantation. Lung allograft airway colonization by Aspergillus species is common among lung transplant recipients. We hypothesized that Aspergillus colonization may promote the development of BOS and may decrease survival post-lung transplantation. We reviewed all lung transplant recipients transplanted in our center between 1/2000 and 6/2006. Bronchoscopy was performed according to a surveillance protocol and when clinically indicated. Aspergillus colonization was defined as a positive culture from bronchoalveolar lavage or two sputum cultures positive for the same Aspergillus species, in the absence of invasive pulmonary Aspergillosis. We found that Aspergillus colonization was strongly associated with BOS and BOS related mortality in Cox regression analyses. Aspergillus colonization typically preceded the development of BOS by a median of 261 days (95% CI 87 to 520). Furthermore, in a multivariate Cox regression model, Aspergillus colonization was a distinct risk factor for BOS, independent of acute rejection. These data suggest a potential causative role for Aspergillus colonization in the development of BOS post-lung transplantation and raise the possibility that strategies aimed to prevent Aspergillus colonization may help delay or reduce the incidence of BOS. PMID:19459819

Use of letrozole and clomiphene citrate combined with gonadotropins in clomiphene-resistant infertile women with polycystic ovary syndrome: a prospective study

PubMed Central

Xi, Wenyan; Liu, Shankun; Mao, Hui; Yang, Yongkang; Xue, Xiang; Lu, Xiaoning

2015-01-01

Background Gonadotropin has been used to stimulate ovulation in clomiphene-resistant infertile women with polycystic ovary syndrome (PCOS), but it is associated with overstimulated cycles with the development of many follicles. The aim of the study was to evaluate the effectiveness and efficacy of letrozole and clomiphene citrate (CC) combined with human menopausal gonadotropin (HMG) in CC-resistant infertile women with PCOS. Methods Ninety-four women received the letrozole + HMG, 90 women received CC + HMG, and 71 women received HMG only. All women received one treatment regimen in one treatment cycle. All patients were given HMG 75 IU on alternate days daily starting on day 3 or day 7 until the day of administration of human chorionic gonadotropin. Results The rate of monofollicular development was 80.2% in the letrozole + HMG group, 65.3% in the CC + HMG group, and 54.7% in the HMG-only group (P<0.05 for letrozole + HMG vs the other two groups). The number of developing follicles (≥14 mm follicles) and the cycle cancellation rate due to ovarian hyperresponse were the lowest in the letrozole + HMG group, but the difference was not significant. The ovulation and pregnancy rate were similar among the three protocols. The HMG dose needed and the mean duration of treatment were significantly lower in the letrozole + HMG and CC + HMG groups compared with the HMG-only group. Conclusion Letrozole in combination with HMG is an effective protocol for reducing the risks of hyperstimulation for ovarian induction in CC-resistant women with PCOS. This combination may be more appropriate in patients who are particularly sensitive to gonadotropin. PMID:26648691

Use of letrozole and clomiphene citrate combined with gonadotropins in clomiphene-resistant infertile women with polycystic ovary syndrome: a prospective study.

PubMed

Xi, Wenyan; Liu, Shankun; Mao, Hui; Yang, Yongkang; Xue, Xiang; Lu, Xiaoning

2015-01-01

Gonadotropin has been used to stimulate ovulation in clomiphene-resistant infertile women with polycystic ovary syndrome (PCOS), but it is associated with overstimulated cycles with the development of many follicles. The aim of the study was to evaluate the effectiveness and efficacy of letrozole and clomiphene citrate (CC) combined with human menopausal gonadotropin (HMG) in CC-resistant infertile women with PCOS. Ninety-four women received the letrozole + HMG, 90 women received CC + HMG, and 71 women received HMG only. All women received one treatment regimen in one treatment cycle. All patients were given HMG 75 IU on alternate days daily starting on day 3 or day 7 until the day of administration of human chorionic gonadotropin. The rate of monofollicular development was 80.2% in the letrozole + HMG group, 65.3% in the CC + HMG group, and 54.7% in the HMG-only group (P<0.05 for letrozole + HMG vs the other two groups). The number of developing follicles (≥14 mm follicles) and the cycle cancellation rate due to ovarian hyperresponse were the lowest in the letrozole + HMG group, but the difference was not significant. The ovulation and pregnancy rate were similar among the three protocols. The HMG dose needed and the mean duration of treatment were significantly lower in the letrozole + HMG and CC + HMG groups compared with the HMG-only group. Letrozole in combination with HMG is an effective protocol for reducing the risks of hyperstimulation for ovarian induction in CC-resistant women with PCOS. This combination may be more appropriate in patients who are particularly sensitive to gonadotropin.

Assessing the feasibility, acceptability, and potential effectiveness of a behavioral-automaticity focused lifestyle intervention for African Americans with metabolic syndrome: The Pick two to Stick to protocol.

PubMed

Fritz, Heather; Brody, Aaron; Levy, Philip

2017-09-01

Metabolic syndrome (MetS) significantly increases the risk of developing diabetes and cardiovascular disease. Being physically active and eating a healthy diet can reduce MetS risk factors. Too frequently, however, studies report that the effects of interventions targeting those factors are not maintained once interventions are withdrawn. A potential solution to the problem is targeting behavioral automaticity (habit-development) to aid in initiation and maintenance of health-behavior changes. The Pick two to Stick To (P2S2), is an 8-week, theory-based hybrid (face-to-face/telecoaching) habit focused lifestyle intervention designed to increase healthful physical activity and dietary behavioral automaticity. The purpose of this article is to describe the rationale and protocol for evaluating the P2S2 program's feasibility, acceptability and potential effectiveness. Using a prospective, non-comparative design, the P2S2 program will be implemented by trained occupational therapy 'coaches' to 40 African Americans aged 40 and above with MetS recruited from the emergency department. Semi-structured interviews with participants, bi-weekly research meetings with study staff, and observations of intervention delivery will provide data for a process evaluation. Estimates of effectiveness include weight, blood pressure, waist circumference, BMI, and behavioral automaticity measures that will be collected at baseline and week 20. The P2S2 program could facilitate the development of healthful dietary and physical activity habits in an underserved population. Whether interventions aimed at changing habits can feasibly influence this automaticity, particularly for high-risk, low resource communities where other barriers exist, is not known. This pilot study, therefore, will fill an important gap, providing insight to inform subsequent trials.

Aerobic interval exercise improves parameters of nonalcoholic fatty liver disease (NAFLD) and other alterations of metabolic syndrome in obese Zucker rats.

PubMed

Kapravelou, Garyfallia; Martínez, Rosario; Andrade, Ana M; Nebot, Elena; Camiletti-Moirón, Daniel; Aparicio, Virginia A; Lopez-Jurado, Maria; Aranda, Pilar; Arrebola, Francisco; Fernandez-Segura, Eduardo; Bermano, Giovanna; Goua, Marie; Galisteo, Milagros; Porres, Jesus M

2015-12-01

Metabolic syndrome (MS) is a group of metabolic alterations that increase the susceptibility to cardiovascular disease and type 2 diabetes. Nonalcoholic fatty liver disease has been described as the liver manifestation of MS. We aimed to test the beneficial effects of an aerobic interval training (AIT) protocol on different biochemical, microscopic, and functional liver alterations related to the MS in the experimental model of obese Zucker rat. Two groups of lean and obese animals (6 weeks old) followed a protocol of AIT (4 min at 65%-80% of maximal oxygen uptake, followed by 3 min at 50%-65% of maximal oxygen uptake for 45-60 min, 5 days/week, 8 weeks of experimental period), whereas 2 control groups remained sedentary. Obese rats had higher food intake and body weight (P < 0.0001) and suffered significant alterations in plasma lipid profile, area under the curve after oral glucose overload (P < 0.0001), liver histology and functionality, and antioxidant status. The AIT protocol reduced the severity of alterations related to glucose and lipid metabolism and increased the liver protein expression of PPARγ, as well as the gene expression of glutathione peroxidase 4 (P < 0.001). The training protocol also showed significant effects on the activity of hepatic antioxidant enzymes, although this action was greatly influenced by rat phenotype. The present data suggest that AIT protocol is a feasible strategy to improve some of the plasma and liver alterations featured by the MS.

Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature.

PubMed

Schell-Apacik, Chayim; Hardt, Michael; Ertl-Wagner, Birgit; Klopocki, Eva; Möhrenschlager, Matthias; Heinrich, Uwe; von Voss, Hubertus

2008-09-01

Alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome; OMIM 203550) is a very rare genetic disorder with distinct features. To our knowledge, there have been four cases documented to date. In addition, another three patients, previously described as having IFAP syndrome (OMIM %308205), may also have ACD syndrome. We report on one patient with short stature, total alopecia, ichthyosis, photophobia, seizures, ectrodactyly, vertebral anomalies, scoliosis, multiple contractures, mental retardation, and striking facial and other features (e.g. microdolichocephaly, missing eyebrows and eyelashes, long nose, large ears) consistent with ACD syndrome. Results of laboratory testing in the literature case reports were normal, although in none of them, array-CGH (microarray-based comparative genomic hybridization) analysis was performed. In conclusion, the combination of specific features, including total alopecia, ichthyosis, mental retardation, and skeletal anomalies are suggestive of ACD syndrome. We propose that children with this syndrome undergo a certain social pediatric protocol including EEG diagnostics, ophthalmological investigation, psychological testing, management of dermatologic and orthopedic problems, and genetic counseling.

Clomiphene Stair-Step Protocol for Women With Polycystic Ovary Syndrome.

PubMed

Jones, Tiffanny; Ho, Jacqueline R; Gualtieri, Marc; Bruno-Gaston, Janet; Chung, Karine; Paulson, Richard J; Bendikson, Kristin A

2018-01-01

To compare time to ovulation, ovulation rates, and side effect profile of traditional and the stair-step protocol for ovulation induction using clomiphene citrate in women with polycystic ovary syndrome (PCOS). We performed a retrospective study of women seeking care for infertility with a diagnosis of PCOS at a university-based infertility clinic from July 2012 to July 2014. We included patients who were resistant to the initial starting dose of 50 mg clomiphene. The primary outcome was time to ovulation. Secondary outcomes included ovulation rates, clinical pregnancy rates, and mild and moderate-to-severe side effects based on dose. For the traditional protocol, higher doses of clomiphene were used each subsequent month if no ovulation occurred. For the stair-step protocol, higher doses of clomiphene were given 7 days after the last dose if no dominant follicles were seen on ultrasonography. Our study had 80% power to detect a 20% difference in ovulation. One hundred nine patients were included in the analysis with 66 (60.6%) in the traditional and 43 (39.4%) in the stair-step protocol. Age and body mass index were similar between groups. The time to ovulation was decreased in the stair-step protocol group compared with the traditional protocol group (23.1±0.9 days vs 47.5±6.3 days). Ovulation rates were increased in the stair-step group compared with the traditional group at 150 mg (16 [37%] vs 8 [12%], P=.004) and at 200 mg (9 [21%] vs 3 [5%], P=.01). Pregnancy rates were similar between groups once ovulation was achieved (12 [18.1%] vs 7 [16.3%], P=.08). The stair-step protocol had an increased incidence of mild side effects (vasomotor flushes, headaches, gastrointestinal disturbance, mastalgia, changes in mood; 18 [41%] vs 8 [12%]), but there was no difference in the incidence of severe side effects (headaches, visual disturbances). For women with PCOS, the stair-step clomiphene protocol is associated with decreased time to ovulation and increased ovulation rates at higher doses when compared with the traditional protocol.

In silico investigation of potential mTOR inhibitors from traditional Chinese medicine for treatment of Leigh syndrome.

PubMed

Chen, Kuan-Chung; Lee, Wen-Yuan; Chen, Hsin-Yi; Chen, Calvin Yu-Chian

2014-01-01

A recent research demonstrates that the inhibition of mammalian target of rapamycin (mTOR) improves survival and health for patients with Leigh syndrome. mTOR proteins can be treated as drug target proteins against Leigh syndrome and other mitochondrial disorders. In this study, we aim to identify potent TCM compounds from the TCM Database@Taiwan as lead compounds of mTOR inhibitors. PONDR-Fit protocol was employed to predict the disordered disposition in mTOR protein before virtual screening. After virtual screening, the MD simulation was employed to validate the stability of interactions between each ligand and mTOR protein in the docking poses from docking simulation. The top TCM compounds, picrasidine M and acerosin, have higher binding affinities with target protein in docking simulation than control. There have H-bonds with residues Val2240 and π interactions with common residue Trp2239. After MD simulation, the top TCM compounds maintain similar docking poses under dynamic conditions. The top two TCM compounds, picrasidine M and acerosin, were extracted from Picrasma quassioides (D. Don) Benn. and Vitex negundo L. Hence, we propose the TCM compounds, picrasidine M and acerosin, as potential candidates as lead compounds for further study in drug development process with the mTOR protein against Leigh syndrome and other mitochondrial disorders.

Endurance exercise in a rat model of metabolic syndrome.

PubMed

Cameron, Isabelle; Alam, Mohammad Ashraful; Wang, Jianxiong; Brown, Lindsay

2012-11-01

We have measured the responses to endurance exercise training on body composition and glucose regulation, as well as cardiovascular and liver structure and function in rats fed a high carbohydrate and high fat (HCHF) diet as a model of human metabolic syndrome. Male Wistar rats (9-10 weeks old) were randomly allocated into corn starch (CS) or HCHF diet groups for 16 weeks; half of each group were exercised on a treadmill for 20, 25, and then 30 min/day, 5 days/week, during the last 8 weeks of the protocol. Metabolic, cardiovascular, and liver parameters were monitored. The HCHF diet induced symptoms of metabolic syndrome, including obesity, dyslipidemia, impaired glucose tolerance, and increased systolic blood pressure associated with the development of cardiovascular remodeling and nonalcoholic steatohepatitis. Exercise in HCHF rats decreased body mass, abdominal fat pads and circumference, blood glucose concentrations, plasma lipid profiles, systolic blood pressure, left ventricular diastolic stiffness, collagen deposition and inflammatory cell infiltration in the left ventricle, improved aortic contractile and relaxation responses, and decreased liver mass and hepatic fat accumulation. This study demonstrates that endurance exercise is effective in this rat model of diet-induced metabolic syndrome in improving body composition and glucose regulation, as well as cardiovascular and liver structure and function.

The AQUA-FONTIS study: protocol of a multidisciplinary, cross-sectional and prospective longitudinal study for developing standardized diagnostics and classification of non-thyroidal illness syndrome

PubMed Central

Dietrich, Johannes W; Stachon, Axel; Antic, Biljana; Klein, Harald H; Hering, Steffen

2008-01-01

Background Non-thyroidal illness syndrome (NTIS) is a characteristic functional constellation of thyrotropic feedback control that frequently occurs in critically ill patients. Although this condition is associated with significantly increased morbidity and mortality, there is still controversy on whether NTIS is caused by artefacts, is a form of beneficial adaptation, or is a disorder requiring treatment. Trials investigating substitution therapy of NTIS revealed contradictory results. The comparison of heterogeneous patient cohorts may be the cause for those inconsistencies. Objectives Primary objective of this study is the identification and differentiation of different functional states of thyrotropic feedback control in order to define relevant evaluation criteria for the prognosis of affected patients. Furthermore, we intend to assess the significance of an innovative physiological index approach (SPINA) in differential diagnosis between NTIS and latent (so-called "sub-clinical") thyrotoxicosis. Secondary objective is observation of variables that quantify distinct components of NTIS in the context of independent predictors of evolution, survival or pathophysiological condition and influencing or disturbing factors like medication. Design The approach to a quantitative follow-up of non-thyroidal illness syndrome (AQUA FONTIS study) is designed as both a cross-sectional and prospective longitudinal observation trial in critically ill patients. Patients are observed in at least two evaluation points with consecutive assessments of thyroid status, physiological and clinical data in additional weekly observations up to discharge. A second part of the study investigates the neuropsychological impact of NTIS and medium-term outcomes. The study design incorporates a two-module structure that covers a reduced protocol in form of an observation trial before patients give informed consent. Additional investigations are performed if and after patients agree in participation. Trial Registration ClinicalTrials.gov NCT00591032 PMID:18851740

Efficacy and safety of Lian-Ju-Gan-Mao capsules for treating the common cold with wind-heat syndrome: study protocol for a randomized controlled trial.

PubMed

Wang, Shengjun; Jiang, Hongli; Yu, Qin; She, Bin; Mao, Bing

2017-01-05

The common cold is a common and frequent respiratory disease mainly caused by viral infection of the upper respiratory tract. Chinese herbal medicine has been increasingly prescribed to treat the common cold; however, there is a lack of evidence to support the wide utility of this regimen. This protocol describes an ongoing phase II randomized controlled clinical trial, based on the theory of traditional Chinese medicine (TCM), with the objective of evaluating the efficacy and safety of Lian-Ju-Gan-Mao capsules (LJGMC), a Chinese patent medicine, compared with placebo in patients suffering from the common cold with wind-heat syndrome (CCWHS). This is a multicenter, randomized, double-blind, placebo-controlled phase II clinical trial. A total of 240 patients will be recruited and randomly assigned to a high-dose group, medium-dose group, low-dose group, and placebo-matched group in a 1:1:1:1 ratio. The treatment course is 3 consecutive days, with a 5-day follow-up. The primary outcome is time to all symptoms' clearance. Secondary outcomes include time to the disappearance of primary symptoms and each secondary symptom, time to fever relief, time to fever clearance, and change in TCM symptom and sign scores. This trial is a well-designed study according to principles and regulations issued by the China Food and Drug Administration (CFDA). The results will provide high-quality evidence on the efficacy and safety of LJGMC in treating CCWHS and help to optimize the dose for the next phase III clinical trial. Moreover, the protocol presents a detailed and practical methodology for future clinical trials of drugs developed based on TCM. Chinese Clinical Trial Registry, ChiCTR-IPR-15006504 . Registered on 4 June 2015.

European Consensus Guidelines on the Management of Respiratory Distress Syndrome - 2016 Update.

PubMed

Sweet, David G; Carnielli, Virgilio; Greisen, Gorm; Hallman, Mikko; Ozek, Eren; Plavka, Richard; Saugstad, Ola Didrik; Simeoni, Umberto; Speer, Christian P; Vento, Máximo; Visser, Gerard H A; Halliday, Henry L

2017-01-01

Advances in the management of respiratory distress syndrome (RDS) ensure that clinicians must continue to revise current practice. We report the third update of the European Guidelines for the Management of RDS by a European panel of expert neonatologists including input from an expert perinatal obstetrician based on available literature up to the beginning of 2016. Optimizing the outcome for babies with RDS includes consideration of when to use antenatal steroids, and good obstetric practice includes methods of predicting the risk of preterm delivery and also consideration of whether transfer to a perinatal centre is necessary and safe. Methods for optimal delivery room management have become more evidence based, and protocols for lung protection, including initiation of continuous positive airway pressure and titration of oxygen, should be implemented from soon after birth. Surfactant replacement therapy is a crucial part of the management of RDS, and newer protocols for surfactant administration are aimed at avoiding exposure to mechanical ventilation, and there is more evidence of differences among various surfactants in clinical use. Newer methods of maintaining babies on non-invasive respiratory support have been developed and offer potential for greater comfort and less chronic lung disease. As technology for delivering mechanical ventilation improves, the risk of causing lung injury should decrease although minimizing the time spent on mechanical ventilation using caffeine and if necessary postnatal steroids are also important considerations. Protocols for optimizing the general care of infants with RDS are also essential with good temperature control, careful fluid and nutritional management, maintenance of perfusion and judicious use of antibiotics all being important determinants of best outcome. © 2016 S. Karger AG, Basel.

Cholangiocytes derived from human induced pluripotent stem cells for disease modeling and drug validation.

PubMed

Sampaziotis, Fotios; de Brito, Miguel Cardoso; Madrigal, Pedro; Bertero, Alessandro; Saeb-Parsy, Kourosh; Soares, Filipa A C; Schrumpf, Elisabeth; Melum, Espen; Karlsen, Tom H; Bradley, J Andrew; Gelson, William Th; Davies, Susan; Baker, Alastair; Kaser, Arthur; Alexander, Graeme J; Hannan, Nicholas R F; Vallier, Ludovic

2015-08-01

The study of biliary disease has been constrained by a lack of primary human cholangiocytes. Here we present an efficient, serum-free protocol for directed differentiation of human induced pluripotent stem cells into cholangiocyte-like cells (CLCs). CLCs show functional characteristics of cholangiocytes, including bile acids transfer, alkaline phosphatase activity, γ-glutamyl-transpeptidase activity and physiological responses to secretin, somatostatin and vascular endothelial growth factor. We use CLCs to model in vitro key features of Alagille syndrome, polycystic liver disease and cystic fibrosis (CF)-associated cholangiopathy. Furthermore, we use CLCs generated from healthy individuals and patients with polycystic liver disease to reproduce the effects of the drugs verapamil and octreotide, and we show that the experimental CF drug VX809 rescues the disease phenotype of CF cholangiopathy in vitro. Our differentiation protocol will facilitate the study of biological mechanisms controlling biliary development, as well as disease modeling and drug screening.

Directed Differentiation of Human-Induced Pluripotent Stem Cells to Mesenchymal Stem Cells.

PubMed

Lian, Qizhou; Zhang, Yuelin; Liang, Xiaoting; Gao, Fei; Tse, Hung-Fat

2016-01-01

Multipotent stromal cells, also known as mesenchymal stem cells (MSCs), possess great potential to generate a wide range of cell types including endothelial cells, smooth muscle cells, bone, cartilage, and lipid cells. This protocol describes in detail how to perform highly efficient, lineage-specific differentiation of human-induced pluripotent stem cells (iPSCs) with an MSCs fate. The approach uses a clinically compliant protocol with chemically defined media, feeder-free conditions, and a CD105 positive and CD24 negative selection to achieve a single cell-based MSCs derivation from differentiating human pluripotent cells in approximately 20 days. Cells generated with this protocol express typical MSCs surface markers and undergo adipogenesis, osteogenesis, and chondrogenesis similar to adult bone marrow-derived MSCs (BM-MSCs). Nonetheless, compared with adult BM-MSCs, iPSC-MSCs display a higher proliferative capacity, up to 120 passages, without obvious loss of self-renewal potential and constitutively express MSCs surface antigens. MSCs generated with this protocol have numerous applications, including expansion to large scale cell numbers for tissue engineering and the development of cellular therapeutics. This approach has been used to rescue limb ischemia, allergic disorders, and cigarette smoke-induced lung damage and to model mesenchymal and vascular disorders of Hutchinson-Gilford progeria syndrome (HGPS).

Thyroid, cortisol and growth hormone levels in adult Nigerians with metabolic syndrome.

PubMed

Udenze, Ifeoma Christiana; Olowoselu, Olusola Festus; Egbuagha, Ephraim Uchenna; Oshodi, Temitope Adewunmi

2017-01-01

The similarities in presentation of cortisol excess, growth hormone deficiency, hypothyroidism and metabolic syndrome suggest that subtle abnormalities of these endocrine hormones may play a causal role in the development of metabolic syndrome. The aim of this study is to determine the levels of cortisol, thyroid and growth hormones in adult Nigerians with metabolic syndrome and determine the relationship between levels of these hormones and components of the syndrome. This was a case control study conducted at the Lagos University Teaching Hospital, Lagos, Nigeria. Participants were fifty adult men and women with the metabolic syndrome, and fifty, age and sex matched males and females without the metabolic syndrome. Metabolic syndrome was defined based on the NCEP-ATPIII criteria. Written Informed consent was obtained from the participants. Socio demographic and clinical data were collected using a structured questionnaire. Venous blood was collected after an over-night fast. The Ethics committee of the Lagos University Teaching Hospital, Lagos, Nigeria, approved the study protocol. Comparison of continuous variables was done using the Student's t test. Correlation analysis was employed to determine the associations between variables. Statistical significance was set at P<0.05. Triiodotyronine (T3) was significantly decreased (p<0.001) and thyroxine (T4 ) significantly increased ( p<0.001) in metabolic syndrome compared to healthy controls. T3 correlated positively and significantly with waist circumference (p=0.004), glucose (p= 0.002), total cholesterol ( p=0.001) and LDL- cholesterol ( p<0.001 ) and negatively with body mass index ( p<0.001 )and triglyceride ( p=0.026). T4 had a negative significant correlation with waist circumference (p=0.004). Cortisol and growth hormone levels were similar in metabolic syndrome and controls. Cortisol however had a positive significant correlation with waist/hip ratio (p<0.001) while growth hormone correlated positively with HDL ( p=0.023)and negatively with diastolic blood pressure (p=0.049). Thyroid hormones T3 and T4 were associated with metabolic syndrome. The thyroid hormones, cortisol and growth hormones correlated with components of the syndrome. A therapeutic role may exit for these hormones in the management of metabolic syndrome and related disorders.

Minimally-aggressive gestational trophoblastic neoplasms.

PubMed

Cole, Laurence A

2012-04-01

We have previously defined a new syndrome "Minimally-aggressive gestational trophoblastic neoplasms" in which choriocarcinoma or persistent hydatidiform mole has a minimal growth rate and becomes chemorefractory. Previously we described a new treatment protocol, waiting for hCG rise to >3000 mIU/ml and disease becomes more advanced, then using combination chemotherapy. Initially we found this treatment successful in 8 of 8 cases, here we find this protocol appropriate in a further 16 cases. Initially we used hyperglycosylated hCG, a limited availability test, to identify this syndrome. Here we propose also using hCG doubling rate to detect this syndrome. Minimally aggressive gestational trophoblastic disease can be detected by chemotherapy resistance or low hyperglycosylated hCG, <40% of total hCG. It can also be identified by hCG doubling rate, with doubling time greater than 2 weeks. Nineteen new cases were identified as having minimally aggressive gestational trophoblastic disease by hyperglycosylated hCG and by hCG doubling test. All were recommended to hold off further chemotherapy until hCG >3000mIU/ml. One case died prior to the start of the study, one case withdrew because of a lung nodule and one withdrew refusing the suggested combination chemotherapy. The remaining 16 women were all successfully treated. A total of 8 plus 16 or 24 of 24 women were successfully treated using the proposed protocol, holding back on chemotherapy until hCG >3000mIU/ml. Copyright © 2011 Elsevier Inc. All rights reserved.

Supersaturated Calcium Phosphate Rinse in Preventing Oral Mucositis in Young Patients Undergoing Autologous or Donor Stem Cell Transplant

ClinicalTrials.gov

2017-03-28

Childhood Acute Lymphoblastic Leukemia in Remission; Childhood Acute Myeloid Leukemia in Remission; Childhood Chronic Myelogenous Leukemia; Childhood Myelodysplastic Syndromes; Chronic Eosinophilic Leukemia; Chronic Myelomonocytic Leukemia; Chronic Neutrophilic Leukemia; de Novo Myelodysplastic Syndromes; Disseminated Neuroblastoma; Juvenile Myelomonocytic Leukemia; Mucositis; Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable; Previously Treated Childhood Rhabdomyosarcoma; Previously Treated Myelodysplastic Syndromes; Recurrent Childhood Acute Lymphoblastic Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Recurrent Childhood Large Cell Lymphoma; Recurrent Childhood Lymphoblastic Lymphoma; Recurrent Childhood Rhabdomyosarcoma; Recurrent Childhood Small Noncleaved Cell Lymphoma; Recurrent Malignant Testicular Germ Cell Tumor; Recurrent Wilms Tumor and Other Childhood Kidney Tumors; Recurrent/Refractory Childhood Hodgkin Lymphoma; Relapsing Chronic Myelogenous Leukemia; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes; Unspecified Childhood Solid Tumor, Protocol Specific

The Use of Text Messaging to Improve the Hospital-to-Community Transition in Acute Coronary Syndrome Patients (Txt2Prevent): Intervention Development and Pilot Randomized Controlled Trial Protocol.

PubMed

Ross, Emily S; Sakakibara, Brodie M; Mackay, Martha H; Whitehurst, David Gt; Singer, Joel; Toma, Mustafa; Corbett, Kitty K; Van Spall, Harriette Gc; Rutherford, Kimberly; Gheorghiu, Bobby; Code, Jillianne; Lear, Scott A

2017-05-23

Acute coronary syndrome, including acute myocardial infarction (AMI), is one of the leading causes for hospitalization, with AMI 30-day readmission rates around 20%. Supporting patient information needs and increasing adherence to recommended self-management behaviors during transition from hospital to home has the potential to improve patient outcomes. Text messages have been effective in other interventions and may be suitable to provide support to patients during this transition period. The goal of this study is to pilot test a text messaging intervention program (Txt2Prevent) that supports acute coronary syndrome patients for 60 days postdischarge. The primary objective is to compare self-management, as measured by the Health Education Impact Questionnaire, between patients receiving only usual care versus those who receive usual care plus the Txt2Prevent intervention. The secondary objectives are to compare medication adherence, health-related quality of life, self-efficacy, health care resource use (and associated costs), all-cause and cardiovascular disease (CVD) readmission, and all-cause and CVD mortality rates between the 2 groups. The third objective is to assess acceptability of the text messaging intervention and feasibility of the study protocol. This is a randomized controlled trial with blinding of outcome assessors. The Txt2Prevent program includes automated text messages to patients about standard follow-up care, general self-management, and healthy living. The content of the text messages was informed by and developed based on interviews with patients, discharge materials, theoretical domains of behavior, and a clinical advisory group composed of patients, clinicians, and researchers. We will recruit 76 consecutive cardiac in-patients with acute coronary syndrome who are treated with either medical management or percutaneous coronary intervention from a hospital in Vancouver, Canada. Assessments at baseline will include measures for demographic information, self-management, health-related quality of life, and self-efficacy. Assessments at follow-up will include medication adherence, readmissions, health care resource use, and mortality in addition to the reassessment of baseline measures. Baseline assessments are done in-person while follow-up assessments are completed through a combination of mailed packages and phone calls. Semistructured interviews with participants will also be performed to better understand participant experiences managing their condition and with the text messages. This study will determine preliminary efficacy, feasibility, and acceptability of the Txt2Prevent program to support acute coronary syndrome patients in the transition to home following hospital discharge. The results of this study will be used to inform a larger trial. ClinicalTrials.gov NCT02336919; https://clinicaltrials.gov/ct2/show/NCT02336919 (Archived by WebCite at http://www.webcitation.org/6qMjEqo6O). ©Emily S Ross, Brodie M Sakakibara, Martha H Mackay, David GT Whitehurst, Joel Singer, Mustafa Toma, Kitty K Corbett, Harriette GC Van Spall, Kimberly Rutherford, Bobby Gheorghiu, Jillianne Code, Scott A Lear. Originally published in JMIR Research Protocols (http://www.researchprotocols.org), 23.05.2017.

Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome.

PubMed

Foulkes, William D; Kamihara, Junne; Evans, D Gareth R; Brugières, Laurence; Bourdeaut, Franck; Molenaar, Jan J; Walsh, Michael F; Brodeur, Garrett M; Diller, Lisa

2017-06-15

Gorlin syndrome and rhabdoid tumor predisposition syndrome (RTPS) are autosomal dominant syndromes associated with an increased risk of childhood-onset brain tumors. Individuals with Gorlin syndrome can manifest a wide range of phenotypic abnormalities, with about 5% of family members developing medulloblastoma, usually occurring in the first 3 years of life. Gorlin syndrome is associated with germline mutations in components of the Sonic Hedgehog pathway, including Patched1 ( PTCH1) and Suppressor of fused ( SUFU) SUFU mutation carriers appear to have an especially high risk of early-onset medulloblastoma. Surveillance MRI in the first years of life in SUFU mutation carriers is, therefore, recommended. Given the risk of basal cell carcinomas, regular dermatologic examinations and sun protection are also recommended. Rhabdoid tumors (RT) are tumors initially defined by the descriptive "rhabdoid" term, implying a phenotypic similarity with rhabdomyoblasts at the microscopic level. RTs usually present before the age of 3 and can arise within the cranium as atypical teratoid/rhabdoid tumors or extracranially, especially in the kidney, as malignant rhabdoid tumors. However, RTs of both types share germline and somatic mutations in SMARCB1 or, more rarely, SMARCA4 , each of which encodes a chromatin remodeling family member. SMARCA4 mutations are particularly associated with small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). The outcome following a diagnosis of any of these tumors is often poor, and the value of surveillance is unknown. International efforts to determine surveillance protocols are underway, and preliminary recommendations are made for carriers of SMARCB1 and SMARCA4 mutations. Clin Cancer Res; 23(12); e62-e67. ©2017 AACR See all articles in the online-only CCR Pediatric Oncology Series. ©2017 American Association for Cancer Research.

Sexual function in infertile women with polycystic ovary syndrome and unexplained infertility.

PubMed

Diamond, Michael P; Legro, Richard S; Coutifaris, Christos; Alvero, Ruben; Robinson, Randal D; Casson, Peter A; Christman, Gregory M; Huang, Hao; Hansen, Karl R; Baker, Valerie; Usadi, Rebecca; Seungdamrong, Aimee; Bates, G Wright; Rosen, R Mitchell; Schlaff, William; Haisenleder, Daniel; Krawetz, Stephen A; Barnhart, Kurt; Trussell, J C; Santoro, Nanette; Eisenberg, Esther; Zhang, Heping

2017-08-01

While female sexual dysfunction is a frequent occurrence, characteristics in infertile women are not well delineated. Furthermore, the impact of infertility etiology on the characteristics in women with differing androgen levels observed in women with polycystic ovary syndrome and unexplained infertility has not been assessed. The objective of the study was to determine the characteristics of sexual dysfunction in women with polycystic ovary syndrome and unexplained infertility. A secondary data analysis was performed on 2 of Eunice Kennedy Shriver National Institute of Child Health and Human Development Cooperative Reproductive Medicine Networks clinical trials: Pregnancy in Polycystic Ovary Syndrome Study II and Assessment of Multiple Intrauterine Gestations From Ovarian Stimulation. Both protocols assessed female sexual function using the Female Sexual Function Inventory and the Female Sexual Distress Scale. Women with polycystic ovary syndrome had higher weight and body mass index than women with unexplained infertility (each P < .001), greater phenotypic (Ferriman-Gallwey hirsutism score, sebum score, and acne score; each P < .001), and hormonal (testosterone, free testosterone, and dehydroepiandrosterone; each P < .001) evidence of androgen excess. Sexual function scores, as assessed by the Female Sexual Function Inventory, were nearly identical. The Female Sexual Distress Scale total score was higher in women with polycystic ovary syndrome. The mean Female Sexual Function Inventory total score increased slightly as the free androgen index increased, mainly as a result of the desire subscore. This association was more pronounced in the women with unexplained infertility. Reproductive-age women with infertility associated with polycystic ovary syndrome and unexplained infertility, despite phenotypic and biochemical differences in androgenic manifestations, do not manifest clinically significant differences in sexual function. Copyright © 2017 Elsevier Inc. All rights reserved.

CONGENITAL ABNORMALITIES OF CRANIAL NERVE DEVELOPMENT: OVERVIEW, MOLECULAR MECHANISMS, AND FURTHER EVIDENCE OF HETEROGENEITY AND COMPLEXITY OF SYNDROMES WITH CONGENITAL LIMITATION OF EYE MOVEMENTS

PubMed Central

Traboulsi, Elias I

2004-01-01

ABSTRACT Purpose The clinical and molecular genetic classification of syndromes with congenital limitation of eye movements and evidence of cranial nerve dysgenesis continues to evolve. This monograph details clinical and molecular genetic data on a number of families and isolated patients with congenital fibrosis of the extraocular muscles (CFEOM) and related disorders, and presents an overview of the mechanisms of abnormal patterns of motor and sensory cranial nerve development in these rare syndromes. Methods Clinical examination of one patient with CFEOM1, one family with clinical features of CFEOM2, one family with recessive CFEOM3, one family with horizontal gaze palsy and progressive scoliosis (HGPPS), and four patients with various combinations of congenital cranial nerve abnormalities. Genotyping of families with CFEOM and HGPPS for polymorphic markers in the regions of the three known CFEOM loci and in the HGPPS region, and mutation analysis of the ARIX and KIF21A genes in patients with CFEOM were performed according to standard published protocols. Results The patient with CFEOM1 had the second most common mutation in KIF21A, a 2861 G>A mutation that resulted in an R954Q substitution. The family with CFEOM2 phenotype did not map to the CFEOM2 locus. The family with recessive CFEOM3 did not map to any of the known loci. The HGPPS family mapped to 11q23–q25. One patient had optic nerve hypoplasia and fifth nerve dysfunction. Two patients had the rare combination of Möbius syndrome and CFEOM. One patient had Möbius syndrome and fifth nerve dysfunction. Conclusions There is genetic heterogeneity in CFEOM2 and CFEOM3. Abnormalities in sensory nerves can also accompany abnormalities of motor nerves, further substantiating the effect of individual mutations on developing motor as well as sensory cranial nerve nuclei. PMID:15747768

The MAPP research network: design, patient characterization and operations.

PubMed

Landis, J Richard; Williams, David A; Lucia, M Scott; Clauw, Daniel J; Naliboff, Bruce D; Robinson, Nancy A; van Bokhoven, Adrie; Sutcliffe, Siobhan; Schaeffer, Anthony J; Rodriguez, Larissa V; Mayer, Emeran A; Lai, H Henry; Krieger, John N; Kreder, Karl J; Afari, Niloofar; Andriole, Gerald L; Bradley, Catherine S; Griffith, James W; Klumpp, David J; Hong, Barry A; Lutgendorf, Susan K; Buchwald, Dedra; Yang, Claire C; Mackey, Sean; Pontari, Michel A; Hanno, Philip; Kusek, John W; Mullins, Chris; Clemens, J Quentin

2014-08-01

The "Multidisciplinary Approach to the Study of Chronic Pelvic Pain" (MAPP) Research Network was established by the NIDDK to better understand the pathophysiology of urologic chronic pelvic pain syndromes (UCPPS), to inform future clinical trials and improve clinical care. The evolution, organization, and scientific scope of the MAPP Research Network, and the unique approach of the network's central study and common data elements are described. The primary scientific protocol for the Trans-MAPP Epidemiology/Phenotyping (EP) Study comprises a multi-site, longitudinal observational study, including bi-weekly internet-based symptom assessments, following a comprehensive in-clinic deep-phenotyping array of urological symptoms, non-urological symptoms and psychosocial factors to evaluate men and women with UCPPS. Healthy controls, matched on sex and age, as well as "positive" controls meeting the non-urologic associated syndromes (NUAS) criteria for one or more of the target conditions of Fibromyalgia (FM), Chronic Fatigue Syndrome (CFS) or Irritable Bowel Syndrome (IBS), were also evaluated. Additional, complementary studies addressing diverse hypotheses are integrated into the Trans-MAPP EP Study to provide a systemic characterization of study participants, including biomarker discovery studies of infectious agents, quantitative sensory testing, and structural and resting state neuroimaging and functional neurobiology studies. A highly novel effort to develop and assess clinically relevant animal models of UCPPS was also undertaken to allow improved translation between clinical and mechanistic studies. Recruitment into the central study occurred at six Discovery Sites in the United States, resulting in a total of 1,039 enrolled participants, exceeding the original targets. The biospecimen collection rate at baseline visits reached nearly 100%, and 279 participants underwent common neuroimaging through a standardized protocol. An extended follow-up study for 161 of the UCPPS participants is ongoing. The MAPP Research Network represents a novel, comprehensive approach to the study of UCPPS, as well as other concomitant NUAS. Findings are expected to provide significant advances in understanding UCPPS pathophysiology that will ultimately inform future clinical trials and lead to improvements in patient care. Furthermore, the structure and methodologies developed by the MAPP Network provide the foundation upon which future studies of other urologic or non-urologic disorders can be based. ClinicalTrials.gov identifier: NCT01098279 "Chronic Pelvic Pain Study of Individuals with Diagnoses or Symptoms of Interstitial Cystitis and/or Chronic Prostatitis (MAPP-EP)". http://clinicaltrials.gov/show/NCT01098279.

3'-Deoxy-3'-[18F] Fluorothymidine PET Imaging in Patients With Cancer

ClinicalTrials.gov

2017-12-05

Brain and Central Nervous System Tumors; Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Lymphoproliferative Disorder; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Unspecified Adult Solid Tumor, Protocol Specific

Baclofen-Amitriptyline Hydrochloride-Ketamine Gel in Treating Peripheral Neuropathy Caused by Chemotherapy in Patients With Cancer

ClinicalTrials.gov

2017-07-25

Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Lymphoproliferative Disorder; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Neurotoxicity; Pain; Unspecified Adult Solid Tumor, Protocol Specific

Penile Improvement Protocol in Postoperative Management of Patients Undergoing Metoidioplasty.

PubMed

Cohanzad, Shahryar

2016-12-01

To introduce a postoperative protocol to optimize the final size of the penis in patients undergoing metoidioplasty. Fourteen patients with the mean age of 29.3 years (8-40 ± 11.7), ten female transsexuals (46 xx karyotype) and four with 5-alpha-reductase deficiency syndrome (5ARDS) who had undergone extensive metoidioplasty entered a penile improvement protocol (PIP) between 2007 and 2015 at a specialized clinic in a general hospital in Tehran, Iran. Subjects were thoroughly instructed, rehearsed on the protocol and closely followed for 24 weeks. Written informed consent was obtained from all participants. We adapted a popular device, the so-called penile traction device, to accommodate the size of the neo-penis. All patients achieved an increase in their penile length with a mean of 28.42 mm (21-47 ± 6.86). Two subjects developed penile bruises and edema during the protocol implementation. No significant procedural complications were detected in the remaining 12 participants. PIP can be an effective step in increasing the size of the neo-penis in patients who have undergone metoidioplasty. We suggest this procedure to be seriously considered in postoperative management of well-informed and motivated patients to improve the final penile length and function in this population. Larger studies are needed to further validate this protocol. This journal requires that the authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Comparison of results of cycles treated with modified mild protocol and short protocol for ovarian stimulation.

PubMed

Coelho, F; Aguiar, L F; Cunha, G S P; Cardinot, N; Lucena, E

2014-01-01

The ovarian stimulation has been applied in order to increase the number of oocytes to compensate for the poor results of in vitro fertilization, allowing the selection of one or more embryos to be transferred. Our aim is to compare the results obtained in IVF/ICSI cycles using the short protocol for controlled ovarian stimulation to the results from the modified mild protocol used in our department. A total of 240 cycles were conducted from January 2010 to December 2011. When comparing both protocols, it could be observed that there was a significant difference in the quantity of gonadotropins doses in the mild protocol and in the short protocol. No significant difference was observed regarding pregnancy rates per cycle, 22% and 26.2%, in short and mild protocols, respectively. The protocols of controlled ovarian stimulation are often associated with high risk of complications such as ovarian hyperstimulation syndrome, excessive emotional stress, high rates of treatment dropouts, and abdominal discomfort. With the data obtained in this study, one can conclude that there are less risks and complications for the patient when using the mild stimulation protocol. It was also observed that in this group there was a slightly higher rate.

Normal sensorimotor plasticity in complex regional pain syndrome with fixed posture of the hand.

PubMed

Morgante, Francesca; Naro, Antonino; Terranova, Carmen; Russo, Margherita; Rizzo, Vincenzo; Risitano, Giovanni; Girlanda, Paolo; Quartarone, Angelo

2017-01-01

Movement disorders associated with complex regional pain syndrome type I have been a subject of controversy over the last 10 years regarding their nature and pathophysiology, with an intense debate about the functional (psychogenic) nature of this disorder. The aim of this study was to test sensorimotor plasticity and cortical excitability in patients with complex regional pain syndrome type I who developed a fixed posture of the hand. Ten patients with complex regional pain syndrome type I in the right upper limb and a fixed posture of the hand (disease duration less than 24 months) and 10 age-matched healthy subjects were enrolled. The following parameters of corticospinal excitability were recorded from the abductor pollicis brevis muscle of both hands by transcranial magnetic stimulation: resting and active motor thresholds, short-interval intracortical inhibition and facilitation, cortical silent period, and short- and long-latency afferent inhibition. Sensorimotor plasticity was tested using the paired associative stimulation protocol. Short-interval intracortical inhibition and long-latency afferent inhibition were reduced only in the affected right hand of patients compared with control subjects. Sensorimotor plasticity was comparable to normal subjects, with a preserved topographic specificity. Our data support the view that motor disorder in complex regional pain syndrome type I is not associated with abnormal sensorimotor plasticity, and it shares pathophysiological abnormalities with functional (psychogenic) dystonia rather than with idiopathic dystonia. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

Genotoxicity of retroviral hematopoietic stem cell gene therapy

PubMed Central

Trobridge, Grant D

2012-01-01

Introduction Retroviral vectors have been developed for hematopoietic stem cell (HSC) gene therapy and have successfully cured X-linked severe combined immunodeficiency (SCID-X1), adenosine deaminase deficiency (ADA-SCID), adrenoleukodystrophy, and Wiskott-Aldrich syndrome. However, in HSC gene therapy clinical trials, genotoxicity mediated by integrated vector proviruses has led to clonal expansion, and in some cases frank leukemia. Numerous studies have been performed to understand the molecular basis of vector-mediated genotoxicity with the aim of developing safer vectors and safer gene therapy protocols. These genotoxicity studies are critical to advancing HSC gene therapy. Areas covered This review provides an introduction to the mechanisms of retroviral vector genotoxicity. It also covers advances over the last 20 years in designing safer gene therapy vectors, and in integration site analysis in clinical trials and large animal models. Mechanisms of retroviral-mediated genotoxicity, and the risk factors that contribute to clonal expansion and leukemia in HSC gene therapy are introduced. Expert opinion Continued research on virus–host interactions and next-generation vectors should further improve the safety of future HSC gene therapy vectors and protocols. PMID:21375467

Secondary cancers among children with acute lymphoblastic leukaemia treated by the Tokyo Children's Cancer Study Group protocols: a retrospective cohort study.

PubMed

Ishida, Yasushi; Maeda, Miho; Urayama, Kevin Y; Kiyotani, Chikako; Aoki, Yuki; Kato, Yoko; Goto, Shoko; Sakaguchi, Sachi; Sugita, Kenichi; Tokuyama, Mika; Nakadate, Naoya; Ishii, Eizaburo; Tsuchida, Masahiro; Ohara, Akira

2014-01-01

With improvement in survival, it is important to evaluate the impact of treatment on secondary cancers in acute lymphoblastic leukaemia (ALL) survivors. A retrospective cohort study comprising 2918 children diagnosed with ALL and enrolled on Tokyo Children's Cancer Study Group (TCCSG) protocols between 1984 and 2005 was conducted to evaluate the incidence of secondary cancers and associated factors including treatment protocol, cranial irradiation and other characteristics of the primary ALL. Thirty-seven patients developed secondary cancers, including acute myeloid leukaemia (n = 11), myelodysplastic syndrome (n = 5), non-Hodgkin lymphoma (n = 2), brain tumours (n = 13) and other solid carcinomas (n = 6) within a median follow-up duration of 9·5 years. The cumulative incidence of any secondary cancers was 1·0% (95% confidence interval (CI), 0·7-1·4%) at 10 years and 2·4% (95% CI, 1·5-3·7%) at 20 years, respectively. Standardized incidence rate ratio of secondary cancers was 9·3 (95% CI, 6·5-12·8). Multivariate analyses showed an increased risk of secondary cancers associated with the recent treatment protocol and cranial irradiation. There was no evidence of a reduction in secondary cancer incidence despite marked decreases in cranial irradiation use in the recent protocols. © 2013 John Wiley & Sons Ltd.

Antimicrobial Solution or Saline Solution in Maintaining Catheter Patency and Preventing Catheter-Related Blood Infections in Patients With Malignancies

ClinicalTrials.gov

2013-02-13

Chronic Myeloproliferative Disorders; Infection; Leukemia; Lymphoma; Lymphoproliferative Disorder; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Unspecified Adult Solid Tumor, Protocol Specific

Pemetrexed Disodium in the Cerebrospinal Fluid of Patients With Leptomeningeal Metastases

ClinicalTrials.gov

2017-03-15

Brain and Central Nervous System Tumors; Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Lymphoproliferative Disorder; Metastatic Cancer; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Precancerous Condition; Secondary Myelofibrosis; Unspecified Adult Solid Tumor, Protocol Specific

Methadone, Morphine, or Oxycodone in Treating Pain in Patients With Cancer

ClinicalTrials.gov

2012-11-09

Brain and Central Nervous System Tumors; Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Lymphoproliferative Disorder; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Pain; Precancerous Condition; Unspecified Adult Solid Tumor, Protocol Specific

Expanded Access Protocol (EAP) Using the CliniMACS® Device for Pediatric Haplocompatible Donor Stem Cell Transplant

ClinicalTrials.gov

2017-11-22

Acute Lymphoblastic Leukemia; Acute Myeloid Leukemia; Chronic Myeloid Leukemia; Myelodysplastic Syndrome; Lymphomas; Bone Marrow Failure; Hemoglobinopathy; Immune Deficiency; Osteopetrosis; Cytopenias; Leukocyte Disorders; Anemia Due to Intrinsic Red Cell Abnormality

Moxifloxacin Compared With Ciprofloxacin/Amoxicillin in Treating Fever and Neutropenia in Patients With Cancer

ClinicalTrials.gov

2012-09-20

Chronic Myeloproliferative Disorders; Fever, Sweats, and Hot Flashes; Infection; Leukemia; Lymphoma; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Neutropenia; Precancerous Condition; Unspecified Adult Solid Tumor, Protocol Specific

Donor Natural Killer Cells After Donor Stem Cell Transplant in Treating Patients With Advanced Cancer

ClinicalTrials.gov

2013-02-18

Brain and Central Nervous System Tumors; Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Lymphoproliferative Disorder; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Unspecified Adult Solid Tumor, Protocol Specific

Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood.

PubMed

Tabori, Uri; Hansford, Jordan R; Achatz, Maria Isabel; Kratz, Christian P; Plon, Sharon E; Frebourg, Thierry; Brugières, Laurence

2017-06-01

Replication proofreading is crucial to avoid mutation accumulation in dividing cells. In humans, proofreading and replication repair is maintained by the exonuclease domains of DNA polymerases and the mismatch repair system. Individuals harboring germline mutations in genes involved in this process are at increased risk of early cancers from multiple organs. Biallelic mutations in any of the four mismatch repair genes MSH2, MSH6, MLH1 , and PMS2 result in one of the most aggressive childhood cancer predisposition syndromes, termed constitutional mismatch repair deficiency or constitutional mismatch repair deficiency syndrome (CMMRD). Data gathered in the last decade allow us to better define the clinical manifestations, tumor spectrum, and diagnostic algorithms for CMMRD. In this article, we summarize this information and present a comprehensive consensus surveillance protocol for these individuals. Ongoing research will allow for further definition of replication repair-deficient cancer syndromes, assessing the cost-effectiveness of such surveillance protocols and potential therapeutic interventions for these children and families. Clin Cancer Res; 23(11); e32-e37. ©2017 AACR See all articles in the online-only CCR Pediatric Oncology Series. ©2017 American Association for Cancer Research.

Fat emboli syndrome and the orthopaedic trauma surgeon: lessons learned and clinical recommendations.

PubMed

Dunn, Robin Hall; Jackson, Trevor; Burlew, Clay Cothren; Pieracci, Fredric M; Fox, Charles; Cohen, Mitchell; Campion, Eric M; Lawless, Ryan; Mauffrey, Cyril

2017-09-01

Fat emboli syndrome is a rare but well-described complication of long-bone fractures classically characterised by a triad of respiratory failure, mental status changes and petechial rash. In this paper, we present the case of a patient who sustained bilateral femoral fractures and subsequently developed FES. Our aim was to review and summarise the current literature regarding the pathophysiology and management of fat emboli syndrome (FES) and propose an algorithm for treating patients with bilateral femoral fractures to reduce the risk of FES. A literature analysis was performed to determine implications in the clinical setting. Currently, there exists little high-quality evidence to guide the orthopaedic surgeon in identifying patients at highest risk of FES or in preventing FES in patients with multiple long-bone fractures. However, the literature does suggest that the risk is directly related to the volume of marrow displaced and inversely related to both the time to fracture stabilisation and the respiratory reserve of the patient. Based on these correlations, we propose an algorithm for treating patients with bilateral femoral fractures, taking into consideration haemodynamic and pulmonary stability. Our algorithm for managing bilateral femoral fractures prioritises early stabilisation with external fixation, staged intramedullary nailing and conversion to plate fixation if FES develops. This protocol is meant to be the basis of future investigations of optimal treatment strategies.

Lyme disease: why the controversy?

PubMed

Beaman, M H

2016-12-01

Some Australians have become convinced of the existence of locally acquired Lyme disease (LD). The history of LD, since its recognition in the early 1970s, is reviewed as a model for investigative approaches to unknown syndromes. Australian Management Guidelines for LD include the requirement for diagnostic testing by National Association of Testing Authorities-accredited laboratories using Therapeutic Goods Administration-licensed tests, which result in the efficient diagnosis of LD in overseas travellers. Despite this, patients who have not left Australia pay many thousands of dollars for non-specialist consultations and testing at overseas laboratories. Unproven long-term therapy with multiple antibiotics has resulted in serious complications, including allergies, line sepsis, pancreatitis and pseudomembranous colitis. Studies have shown that LD vectors are not found in Australia, and Lyme Borrelia has not been found in Australian vectors, animals or patients with autochthonous illnesses. I propose that (i) A non-controversial name for the chronic syndrome should be adopted, 'Australian Multisystem Disorder'. (ii) Research funding should enable the development of a consensus case definition and studies of the epidemiology of this syndrome with laboratory investigations to identify an aetiology and surrogate markers of disease. Prospective, randomised treatment studies could then be undertaken using ethical protocols. © 2016 Royal Australasian College of Physicians.

Investigation of the syndrome of apotemnophilia and course of a cognitive-behavioural therapy.

PubMed

Braam, Arjan W; Visser, Sako; Cath, Daniëlle C; Hoogendijk, W J G

2006-01-01

The syndrome of apotemnophilia, body integrity or amputee identity disorder, is defined as the desire for amputation of a healthy limb, and may be accompanied by behaviour of pretending to be an amputee and sometimes, but not necessarily, by sexual arousal. A case history is presented of a 35-year-old man who was referred because of his desire for amputation of his left leg, without sexual connotations. The course of a combined cognitive behavioural psychotherapy with SSRI treatment is described. Symptoms showed considerable similarity with obsessive-compulsive disorder, and some similarity with body dysmorphic disorder according to DSM-IV, but the core symptom seemed to be strongly connected with a sense of identity. Treatment with a selective serotonin re-uptake inhibitor decreased levels of distress only. The effects of cognitive restructuring of the psychotherapy were limited, whereas the behavioural elements substantially reduced the behaviour of pretending to be an amputee. The rare syndrome of apotemnophilia raises unresolved questions of classification. Psychotic disorders should be ruled out carefully. The model designed in the current cognitive behavioural approach may serve as a starting point for further development of intervention protocols for this rare disorder.

All-transretinoic acid (ATRA) treatment-related pancarditis and severe pulmonary edema in a child with acute promyelocytic leukemia.

PubMed

Işık, Pamir; Çetin, Ilker; Tavil, Betul; Azik, Fatih; Kara, Abdurrahman; Yarali, Nese; Tunc, Bahattin

2010-11-01

Use of all-transretinoic acid (ATRA) with other chemotherapeutic agents in the treatment of acute promyelocytic leukemia (APL) has been shown to cause the differentiation of abnormally granulated specific blast cells into mature granulocytes by acting on the t(15; 17) fusion gene product. The complete remission rate is increased and survival time is prolonged in APL patients who receive chemotherapy plus ATRA, whereas ATRA syndrome and other ATRA-related adverse effects including pseudo tumor cerebri, headache, severe bone pain, mucosal and skin dryness, hypercholesterolemia, and cheilitis may be observed especially during induction phase of the treatment. In this paper, we report a 9-year-old girl with APL who developed pancarditis while receiving the APL-93 treatment protocol. In our patient, endocarditis and myocarditis were initially determined after ATRA treatment during the induction part of the protocol. All findings disappeared after ATRA was discontinued. When ATRA was readministered in the maintenance part of the treatment protocol, she developed pancarditis and severe pulmonary edema. As her symptoms decreased dramatically with the discontinuation of ATRA and the initiation of steroid treatment, the clinical picture strongly suggested the ATRA treatment as the causative factor. To the best of our knowledge, this clinical picture of pancarditis secondary to ATRA treatment has not been reported earlier in the English literature.

Traditional Chinese medicine compound ShengJinRunZaoYangXue granules for treatment of primary Sjögren's syndrome: a randomized, double-blind, placebo-controlled clinical trial.

PubMed

Hu, Wei; Qian, Xian; Guo, Feng; Zhang, Miaojia; Lyu, Chengyin; Tao, Juan; Gao, Zhong'en; Zhou, Zhengqiu

2014-01-01

Traditional Chinese medical treatment of primary Sjögren's syndrome has advantages over Western medicine in terms of fewer side effects and improved patient conditions. This study was a multicenter, randomized, double-blind, placebo-controlled clinical trial of the efficacy and safety of ShengJinRunZaoYangXue granules for the treatment of primary Sjögren's syndrome, including the symptoms of dry mouth and dry eye. We undertook a 6-week, double-blind, randomized trial involving 240 patients with primary Sjögren's syndrome at five centers in East China. A computer-generated randomization schedule assigned patients at a 2:1 ratio to receive either ShengJinRunZaoYangXue granules or placebo once daily. Patients and investigators were blinded to treatment allocation. The primary endpoints were the salivary flow rate, Schirmer test results, and sugar test results. Intention-to-treat and per-protocol analyses were performed. All 240 patients were randomly allocated to either the treatment group (n = 160, ShengJinRunZaoYangXue granules) or placebo group (n = 80) and were included in the intention-to-treat analysis. After program violation and loss to follow-up, a total of 199 patients were included in the per-protocol analysis. At six week, intention-to-treat and per-protocol analyses of the left-eye Schirmer I test results showed an improved difference of 1.36 mm/5 min (95% CI: 0.03 to 2.69 mm/5 min) and 1.35 mm/5 min (95% CI: 0.04 to 2.73 mm/5 min), respectively, and those of the right-eye Schirmer I test results showed an improved difference of 1.12 mm/5 min (95% CI: 0.02 to 2.22 mm/5 min) and 1.12 mm/5 min (95% CI: -0.02 to 2.27 mm/5 min), respectively. There was no significant difference between the two groups before treatment. After treatment, the between-group and within-group before-and-after paired comparison results were statistically significant (P < 0.05). Intention-to-treat and per-protocol analyses showed an improved salivary flow rate by 0.04 ml/15 min (95% CI: -0.49 to 0.58 ml/15 min) and 0.04 ml/15 min (95% CI: -0.52 to 0.60 ml/15 min), respectively, but the differences were not significant. Intention-to-treat and per-protocol analyses showed that the sugar test results were improved by 1.77 minutes (95% CI: 0.11 to 3.44 minutes) and 1.84 minutes (95% CI: 0.12 to 3.55 minutes), respectively, but the differences were not significant. For the secondary endpoint, intention-to-treat and per-protocol analyses showed significant improvement in the integrated evaluation of treated patients with dry eye and dry mouth after six weeks of treatment. The incidence of adverse events was 15.6% in the treatment group and 10.0% in the placebo group. Most (94%) adverse events were mild to moderate in the two groups, and only two cases of serious adverse events occurred in the treatment group; both were caused by autoimmune liver disease. Six-week treatment with ShengJinRun ZaoYangXue granules for primary Sjögren's syndrome in this large-scale study improved the symptoms of dry mouth, dry eyes, and low tear flow rate with minimal adverse events.

PPB | What is a Clinical Study

Cancer.gov

The Pleuropulmonary blastoma (PPB) DICER1 Syndrome Study ‹an observational clinical research study‹is enrolling children with PPB and their families. In an observational study, investigators assess health outcomes in groups of participants according to a protocol or research plan.

Personalized Information or Basic Information in Helping Patients Make Decisions About Participating in a Clinical Trial

ClinicalTrials.gov

2013-08-20

Brain and Central Nervous System Tumors; Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Lymphoproliferative Disorder; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Unspecified Adult Solid Tumor, Protocol Specific

Opioid Titration Order Sheet or Standard Care in Treating Patients With Cancer Pain

ClinicalTrials.gov

2012-08-04

Brain and Central Nervous System Tumors; Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Lymphoproliferative Disorder; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Pain; Precancerous Condition; Unspecified Adult Solid Tumor, Protocol Specific

Outcome of acute lymphoblastic leukemia in children with down syndrome-Polish pediatric leukemia and lymphoma study group report.

PubMed

Zawitkowska, Joanna; Odój, Teresa; Drabko, Katarzyna; Zaucha-Prażmo, Agnieszka; Rudnicka, Julia; Romiszewski, Michał; Matysiak, Michał; Kwiecińska, Kinga; Ćwiklińska, Magdalena; Balwierz, Walentyna; Owoc-Lempach, Joanna; Derwich, Katarzyna; Wachowiak, Jacek; Niedźwiecki, Maciej; Adamkiewicz-Drożyńska, Elżbieta; Trelińska, Joanna; Młynarski, Wojciech; Kołtan, Andrzej; Wysocki, Mariusz; Tomaszewska, Renata; Szczepański, Tomasz; Płonowski, Marcin; Krawczuk-Rybak, Maryna; Ociepa, Tomasz; Urasiński, Tomasz; Mizia-Malarz, Agnieszka; Sobol-Milejska, Grażyna; Karolczyk, Grażyna; Kowalczyk, Jerzy

2017-05-01

Children with Down syndrome (DS) have a 20-fold increased risk of developing leukemia compared with the general population. The aim of the study was to analyze the outcome of patients diagnosed with Down syndrome and acute lymphoblastic leukemia (ALL) in Poland between the years 2003 and 2010. A total of 1848 children were diagnosed with ALL (810 females and 1038 males). Of those, 41 (2.2%) had DS. The children were classified into three risk groups: a standard-risk group-14 patients, an intermediate-risk group-24, a high-risk group-3. All patients were treated according to ALLIC 2002 protocol. The median observation time of all patients was 6.1 years, and in patients with DS 5.3 years. Five-year overall survival (OS) was the same in all patients (86% vs 86%, long-rank test, p = .9). The relapse-free survival (RFS) was calculated as 73% in patients with DS and 81% in patients without DS during a median observation time (long-rank test, p = .3). No statistically significant differences were found in the incidence of nonrelapse mortality between those two groups of patients (p = .72). The study was based on children with ALL and Down syndrome who were treated with an identical therapy schedule as ALL patients without DS, according to risk group. This fact can increase the value of the presented results.

DiGeorge Syndrome: a not so rare disease.

PubMed

Fomin, Angela B F; Pastorino, Antonio Carlos; Kim, Chong Ae; Pereira, C A; Carneiro-Sampaio, Magda; Abe-Jacob, Cristina Miuki

2010-01-01

The DiGeorge Syndrome was first described in 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life. It is characterized by hypocalcemia due to hypoparathyroidism, heart defects, and thymic hypoplasia or aplasia. Its incidence is 1:3000 live births and, despite its high frequency, little is known about its natural history and progression. ←This is probably due to diagnostic difficulties and the great variety of names used to describe it, such as velocardiofacial, Shprintzen, DiGeorge, and CATCH 22 Syndromes, as well as conotruncal facial anomaly. All represent the same genetic condition, chromosome 22q11.2 deletion, which might have several clinical expressions. To describe clinical and laboratorial data and phenotypic characteristics of patients with DiGeorge Syndrome. Patients underwent standard clinical and epidemiological protocol and tests to detect heart diseases, facial abnormalities, dimorphisms, neurological or behavioral disorders, recurrent infections and other comorbidities. Of 14 patients (8m - 18y11m), only one did not have 22q11.2 deletion detected. The main findings were: conotruncal malformation (n = 12), facial abnormalities (n = 11), hypocalcemia (n = 5) and low lymphocyte count (n=2). The authors pointed out the necessity of DGS suspicion in all patient presenting with heart defects, facial abnormalities (associated or not with hypocalcemia), and immunological disorders because although frequency of DGS is high, few patients with a confirmed diagnosis are followed up.

Risk of bias and confounding of observational studies of Zika virus infection: A scoping review of research protocols

PubMed Central

Haby, Michelle M.; Martínez-Vega, Ruth; Pinzón-Flores, Carlos E.; Smith, Emma; Pinart, Mariona; Broutet, Nathalie; Becerra-Posada, Francisco; Aldighieri, Sylvain; Van Kerkhove, Maria D.

2017-01-01

Introduction Given the severity and impact of the current Zika virus (ZIKV) outbreak in the Americas, numerous countries have rushed to develop research studies to assess ZIKV and its potential health consequences. In an effort to ensure that studies are comprehensive, both internally and externally valid, and with reliable results, the World Health Organization, the Pan American Health Organization, Institut Pasteur, the networks of Fiocruz, the Consortia for the Standardization of Influenza Seroepidemiology (CONSISE) and the International Severe Acute Respiratory and Emerging Infection Consortium (ISARIC) have generated six standardized clinical and epidemiological research protocols and questionnaires to address key public health questions on ZIKV. Methods We conducted a systematic search of ongoing study protocols related to ZIKV research. We analyzed the content of protocols of 32 cohort studies and 13 case control studies for systematic bias that could produce erroneous results. Additionally we aimed to characterize the risks of bias and confounding in observational studies related to ZIKV and to propose ways to minimize them, including the use of six newly standardized research protocols. Results Observational studies of ZIKV face an array of challenges, including measurement of exposure and outcomes (microcephaly and Guillain-Barré Syndrome). Potential confounders need to be measured where known and controlled for in the analysis. Selection bias due to non-random selection is a significant issue, particularly in the case-control design, and losses to follow-up is equally important for the cohort design. Conclusion Observational research seeking to answer key questions on the ZIKV should consider these restrictions and take precautions to minimize bias in an effort to provide reliable and valid results. Utilization of the standardized research protocols developed by the WHO, PAHO, Institut Pasteur, and CONSISE will harmonize the key methodological aspects of each study design to minimize bias at different stages of the study. Biases need to be considered by researchers implementing the standardized protocols as well as by users of observational epidemiological studies of ZIKV. PMID:28686621

Retrospective analysis of 119 cases of pediatric acute promyelocytic leukemia: Comparisons of four treatment regimes

PubMed Central

LI, EN-QIN; XU, LING; ZHANG, ZHI-QUAN; XIAO, YAN; GUO, HAI-XIA; LUO, XUE-QUN; HU, QUN; LAI, DONG-BO; TU, LI-MING; JIN, RUN-MING

2012-01-01

Clinical trials have demonstrated that pediatric acute promyelocytic leukemia (APL) is highly curable. Small-scale studies have reported on the treatment of APL using one or two treatment regimes. Here, we report a multiple center-based study of 119 cases of pediatric APL treated with four regimes based on all-trans-retinoic acid (ATRA). We retrospectively analyzed the clinical characteristics, laboratorial test results and treatment outcome of the pediatric APL patients. Regime 1 used an in-house developed protocol, regime 2 was modified from the PETHEMA LPA99 protocol, regime 3 was modified from the European-APL93 protocol, and regime 4 used a protocol suggested by the British Committee for Standards in Haematology. The overall complete remission rates for the four regimes were 88.9, 87.5, 97.1 and 87.5%, respectively, which exhibited no statistical difference. However, more favorable results were observed for regimes 2 and 3 than regimes 1 and 4, in terms of the estimated 3.5-year disease-free survivals, relapse rates, drug toxicity (including hepatotoxicity, cardiac arrhythmia, and differentiation syndrome) and sepsis. In conclusion, the overall outcomes were more favorable after treatment with regimes 2 and 3 than with regimes 1 and 4, and this may have been due to the specific compositions of regimes 2 and 3. PMID:23060929

Optimal support techniques when providing mechanical ventilation to patients with acute respiratory distress syndrome.

PubMed

Parissopoulos, Stelios; Mpouzika, Meropi DA; Timmins, Fiona

2017-01-01

Adult respiratory distress syndrome (ARDS) is a type of acute diffuse lung injury characterized by severe inflammation, increased pulmonary vascular permeability and a loss of aerated lung tissue. The effects of high fraction of inspired oxygen (FiO 2 ) include oxygen toxicity manifested by damage to the lung parenchyma in the acute phase of lung injury. There is still a high mortality rate among this group of patients, so clinically sensitive evidence-based interventions are paramount to maximize survival chances during critical care. The aim of this article is to explore the current opinion concerning optimal mechanical ventilation support techniques for patients with acute respiratory distress syndrome. A literature search of clinical trials and observation studies, reviews, discussion papers, meta-analyses and clinical guidelines written in English up to 2015, derived from the databases of Scopus, CINAHL, Cochrane Library databases and PubMed was conducted. Low tidal volume, pressure limitation and prone positioning in severe ARDS patients appear to be of some benefit. More research is required and further development and use of standardized protocols is an important strategy for reducing practice variations across disciplines, as well as giving clear guidelines to nurses practising in critical care. There is also evidence that this syndrome is under-diagnosed and the utilization of lung protective ventilation is still variable. It is important that nurses have underlying knowledge of both aetiology of ARDS and ventilation management, and that they monitor patients very closely. The adoption of a low tidal ventilation protocol, which is based on quality evidence guidelines, the value of rescue therapies and patient observation practices in the overall patient management, and the need to place emphasis on long-term patient outcomes, all these emerge as key factors for consideration and future research. However, there is also a need for more research that would explore the unique contribution of nurses in the management of this patient group, as it is difficult to discern this in the current literature. © 2015 British Association of Critical Care Nurses.

Comparison of Results of Cycles Treated with Modified Mild Protocol and Short Protocol for Ovarian Stimulation

PubMed Central

Aguiar, L. F.; Cunha, G. S. P.; Cardinot, N.; Lucena, E.

2014-01-01

The ovarian stimulation has been applied in order to increase the number of oocytes to compensate for the poor results of in vitro fertilization, allowing the selection of one or more embryos to be transferred. Our aim is to compare the results obtained in IVF/ICSI cycles using the short protocol for controlled ovarian stimulation to the results from the modified mild protocol used in our department. A total of 240 cycles were conducted from January 2010 to December 2011. When comparing both protocols, it could be observed that there was a significant difference in the quantity of gonadotropins doses in the mild protocol and in the short protocol. No significant difference was observed regarding pregnancy rates per cycle, 22% and 26.2%, in short and mild protocols, respectively. The protocols of controlled ovarian stimulation are often associated with high risk of complications such as ovarian hyperstimulation syndrome, excessive emotional stress, high rates of treatment dropouts, and abdominal discomfort. With the data obtained in this study, one can conclude that there are less risks and complications for the patient when using the mild stimulation protocol. It was also observed that in this group there was a slightly higher rate. PMID:25763398

European Society for Swallowing Disorders - European Union Geriatric Medicine Society white paper: oropharyngeal dysphagia as a geriatric syndrome.

PubMed

Baijens, Laura Wj; Clavé, Pere; Cras, Patrick; Ekberg, Olle; Forster, Alexandre; Kolb, Gerald F; Leners, Jean-Claude; Masiero, Stefano; Mateos-Nozal, Jesús; Ortega, Omar; Smithard, David G; Speyer, Renée; Walshe, Margaret

2016-01-01

This position document has been developed by the Dysphagia Working Group, a committee of members from the European Society for Swallowing Disorders and the European Union Geriatric Medicine Society, and invited experts. It consists of 12 sections that cover all aspects of clinical management of oropharyngeal dysphagia (OD) related to geriatric medicine and discusses prevalence, quality of life, and legal and ethical issues, as well as health economics and social burden. OD constitutes impaired or uncomfortable transit of food or liquids from the oral cavity to the esophagus, and it is included in the World Health Organization's classification of diseases. It can cause severe complications such as malnutrition, dehydration, respiratory infections, aspiration pneumonia, and increased readmissions, institutionalization, and morbimortality. OD is a prevalent and serious problem among all phenotypes of older patients as oropharyngeal swallow response is impaired in older people and can cause aspiration. Despite its prevalence and severity, OD is still underdiagnosed and untreated in many medical centers. There are several validated clinical and instrumental methods (videofluoroscopy and fiberoptic endoscopic evaluation of swallowing) to diagnose OD, and treatment is mainly based on compensatory measures, although new treatments to stimulate the oropharyngeal swallow response are under research. OD matches the definition of a geriatric syndrome as it is highly prevalent among older people, is caused by multiple factors, is associated with several comorbidities and poor prognosis, and needs a multidimensional approach to be treated. OD should be given more importance and attention and thus be included in all standard screening protocols, treated, and regularly monitored to prevent its main complications. More research is needed to develop and standardize new treatments and management protocols for older patients with OD, which is a challenging mission for our societies.

European Society for Swallowing Disorders – European Union Geriatric Medicine Society white paper: oropharyngeal dysphagia as a geriatric syndrome

PubMed Central

Baijens, Laura WJ; Clavé, Pere; Cras, Patrick; Ekberg, Olle; Forster, Alexandre; Kolb, Gerald F; Leners, Jean-Claude; Masiero, Stefano; Mateos-Nozal, Jesús; Ortega, Omar; Smithard, David G; Speyer, Renée; Walshe, Margaret

2016-01-01

This position document has been developed by the Dysphagia Working Group, a committee of members from the European Society for Swallowing Disorders and the European Union Geriatric Medicine Society, and invited experts. It consists of 12 sections that cover all aspects of clinical management of oropharyngeal dysphagia (OD) related to geriatric medicine and discusses prevalence, quality of life, and legal and ethical issues, as well as health economics and social burden. OD constitutes impaired or uncomfortable transit of food or liquids from the oral cavity to the esophagus, and it is included in the World Health Organization’s classification of diseases. It can cause severe complications such as malnutrition, dehydration, respiratory infections, aspiration pneumonia, and increased readmissions, institutionalization, and morbimortality. OD is a prevalent and serious problem among all phenotypes of older patients as oropharyngeal swallow response is impaired in older people and can cause aspiration. Despite its prevalence and severity, OD is still underdiagnosed and untreated in many medical centers. There are several validated clinical and instrumental methods (videofluoroscopy and fiberoptic endoscopic evaluation of swallowing) to diagnose OD, and treatment is mainly based on compensatory measures, although new treatments to stimulate the oropharyngeal swallow response are under research. OD matches the definition of a geriatric syndrome as it is highly prevalent among older people, is caused by multiple factors, is associated with several comorbidities and poor prognosis, and needs a multidimensional approach to be treated. OD should be given more importance and attention and thus be included in all standard screening protocols, treated, and regularly monitored to prevent its main complications. More research is needed to develop and standardize new treatments and management protocols for older patients with OD, which is a challenging mission for our societies. PMID:27785002

Arthroscopic treatment of painful Sinding-Larsen-Johansson syndrome in a professional handball player.

PubMed

Kajetanek, C; Thaunat, M; Guimaraes, T; Carnesecchi, O; Daggett, M; Sonnery-Cottet, B

2016-09-01

Sinding-Larsen-Johansson (SLJ) syndrome is a type of osteochondrosis of the distal pole of the patella most often caused by repeated microtrauma. Here, we describe the case of a professional athlete with painful SLJ syndrome treated arthroscopically. A 29-year-old male professional handball player presented with anterior knee pain that persisted after 4 months of an eccentric rehabilitation protocol and platelet-rich plasma injections. Despite this conservative treatment, the patient could not participate in his sport. The SLJ lesion was excised arthroscopically, which led to complete disappearance of symptoms and return to competitive sports after 5 months. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Perceptions of Burden in Patients With Late-Stage Cancer and Their Caregivers

ClinicalTrials.gov

2015-05-27

Brain and Central Nervous System Tumors; Chronic Myeloproliferative Disorders; Depression; Leukemia; Lymphoma; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Psychosocial Effects of Cancer and Its Treatment; Unspecified Adult Solid Tumor, Protocol Specific

Efficacy of Intravenous Mannitol in the Management of Orbital Compartment Syndrome: A Nonhuman Primate Model.

PubMed

Johnson, Davin; Winterborn, Andrew; Kratky, Vladimir

2016-01-01

To report the efficacy of intravenous mannitol in the treatment of orbital compartment syndrome. An experimental study was conducted on 4 nonhuman primates (8 orbits). Orbital compartment syndrome was simulated by injecting autologous blood into both orbits of each nonhuman primate until a pressure of 80 mm Hg was reached (time 0). After 10 minutes, nonhuman primates were randomized to receive an infusion of either mannitol or saline, given over 15 minutes. Five minutes after the infusion was complete, lateral canthotomy and cantholysis was performed on both orbits in isolated steps every 5 minutes. During the study protocol, orbital and intraocular pressures were recorded every 5 minutes, with a final set of measurements at 60 minutes. The primary outcome measures were the mean change in pressure from time 0 to 60 minutes, as well as the mean change in pressure during the infusion period. There was no statistically significant difference in the mean changes in orbital or intraocular pressure from time 0 to 60 minutes of the protocol. However, during the infusion period there was significantly greater decrease in both orbital and intraocular pressure in the mannitol compared with saline group (-34.0 vs. -9.3 mm Hg for orbital pressure [p = 0.03]; -34.8 vs. -9.7 mm Hg for intraocular pressure [p = 0.04]). While the definitive treatment of orbital compartment syndrome is lateral canthotomy and cantholysis, mannitol results in a rapid and clinically meaningful drop in orbital and intraocular pressure. The authors believe that their data support the routine use of mannitol in orbital compartment syndrome, especially when there is a delay in timely surgical management.

Randomized Multicenter Feasibility Trial of Myofascial Physical Therapy for Treatment of Urologic Chronic Pelvic Pain Syndrome

PubMed Central

FitzGerald, Mary P; Anderson, Rodney U; Potts, Jeannette; Payne, Christopher K; Peters, Kenneth M; Clemens, J Quentin; Kotarinos, Rhonda; Fraser, Laura; Cosby, Annamarie; Fortman, Carole; Neville, Cynthia; Badillo, Suzanne; Odabachian, Lisa; Sanfield, Anna; O’Dougherty, Betsy; Halle-Podell, Rick; Cen, Liyi; Chuai, Shannon; Landis, J Richard; Kusek, John W; Nyberg, Leroy M

2010-01-01

Objectives To determine the feasibility of conducting a randomized clinical trial designed to compare two methods of manual therapy (myofascial physical therapy (MPT) and global therapeutic massage (GTM)) among patients with urologic chronic pelvic pain syndromes. Materials and Methods Our goal was to recruit 48 subjects with chronic prostatitis/chronic pelvic pain syndrome or interstitial cystitis/painful bladder syndrome at six clinical centers. Eligible patients were randomized to either MPT or GTM and were scheduled to receive up to 10 weekly treatments, each 1 hour in duration. Criteria to assess feasibility included adherence of therapists to prescribed therapeutic protocol as determined by records of treatment, adverse events which occurred during study treatment, and rate of response to therapy as assessed by the Patient Global Response Assessment (GRA). Primary outcome analysis compared response rates between treatment arms using Mantel-Haenszel methods. Results Twenty-three (49%) men and 24 (51%) women were randomized over a six month period. Twenty-four (51%) patients were randomized to GTM, 23 (49%) to MPT; 44 (94%) patients completed the study. Therapist adherence to the treatment protocols was excellent. The GRA response rate of 57% in the MPT group was significantly higher than the rate of 21% in the GTM treatment group (p=0.03). Conclusions The goals to judge feasibility of conducting a full-scale trial of physical therapy methods were met. The preliminary findings of a beneficial effect of MPT warrants further study. PMID:19535099

Immunomodulating and antiproteinuric effect of Hippophae rhamnoides (Badriphal) in idiopathic nephrotic syndrome.

PubMed

Singh, Rana Gopal; Singh, Parampal; Singh, Praveen Kumar; Usha; Agrawal, Aruna; Upadhyay, B N; Soni, Ashutosh

2013-06-01

The treatment of idiopathic nephrotic syndrome is still not well settled and at times is very frustrating. Number of protocols have been reported with variable results outcome in various conditions. The main pillar of treatment of idiopathic nephrotic syndrome is use of immunomodulating and suppressive drugs in various combinations. The herbal preparations have also been reported to have immunomodulating property. The study has been planned to record Immunomodulating and antiproteinuric effect of Hippophae rhamnoides. In the present study had 2 groups having 28 patients of idiopathic nephrotic syndrome in each group have been included. The patients were subjected to haematological, biochemical, immunological investigation at 0, 1, 2 and 3 months interval with dietic advise. Group A have been put on standard treatment, whereas group B on Badriphal in the well worked up doses. The hydroalcoholic extract of 350 mg twice daily of Badriphal was given to group B as add on treatment. Patients were followed up with definite protocol at monthly interval for 3 months. At the end of 3 month patients showed improvement in the symptoms of oedema, anorexia, oliguria in the herbal group. The urinary estimation of protein showed significant decrease in Group B with elevation of S. albumin levels. The inflammatory cytokines has showed significant decrease at the end of 3 month. Thus the pilot study showed beneficial effect of the herbal preparation Hippophae rhamnoides as add on treatment. A large perspective study is recommended to establish these findings.

Current management of hyperglycemia in acute coronary syndromes: a national Dutch survey.

PubMed

de Mulder, Maarten; Oemrawsingh, Rohit M; Stam, Frank; Boersma, Eric; Umans, Victor A W M

2009-06-01

Hyperglycemia is common among patients admitted with acute coronary syndromes (ACS) and is associated with less favorable clinical outcomes. Guidelines for the treatment of hyperglycemia in myocardial infarction are confusing, partly because of lack of sufficient evidence. Neither do we know what the everyday practice on hyperglycemia in ACS is. Therefore the aim of our study is to describe current glucose management in ACS patients in The Netherlands. We designed a multiple-choice questionnaire that was emailed to all 94 independent cardiology departments of each of the 114 hospitals within The Netherlands. We interviewed cardiologists about their specific hospital setting, the presence, content, and actual use of a dedicated hyperglycemia protocol in the setting of ACS. Ninety-four questionnaires were returned (response rate 100%). Only 32% of the respondents reported to have a routinely applied, dedicated hyperglycemia protocol in the setting of ACS. An admission glucose of 13.0 mmol/L is considered a stress value by 60% of respondents. Treatment of hyperglycemia is postponed until after the acute phase (ie, after >6 hours) in 41% of the cardiology departments and in 76% HbA1c is not routinely measured before discharge. Only a minority of Dutch cardiology departments have a routinely applied, dedicated hyperglycemia protocol for patients admitted with ACS. Different views exist on the interpretation of admission hyperglycemia in patients without previously diagnosed diabetes. Dedicated protocols with well-established treatment goals allow early treatment and are mandatory to improve timely metabolic regulation.

The effect of a nurse-led telephone-based care coordination program on the follow-up and control of cardiovascular risk factors in patients with coronary artery disease.

PubMed

Wong, Ningyan; Chua, Siang Jin Terrance; Gao, Fei; Sim, Sok Tiang Rosalind; Matchar, David; Wong, Sung Lung Aaron; Yeo, Khung Keong; Tan, Wei Chieh Jack; Chin, Chee Tang

2016-12-01

We sought to analyse the impact of a care coordination protocol on transiting patients with coronary artery disease who had undergone percutaneous coronary intervention (PCI) to primary care and its effect on cardiovascular risk factor control. A prospective observational study involving 492 patients who had undergone PCI either electively or after an acute coronary syndrome. A tertiary institution in Singapore. Patients who had undergone a PCI either electively or after an acute coronary syndrome. The SCORE (Standardized Care for Optimal Outcomes, Right-Siting and Rapid Re-evaluation) program was a nurse-led, telephone-based, care coordination protocol. Transition to primary care within 1 year of enrolment, the achievement of low-density lipoprotein (LDL) level of <2.6 mmol/l within 1 year and hospital admissions related to cardiovascular causes within 1 year were studied. Under the SCORE protocol, a significantly higher number of patients transited to primary care and achieved the LDL target within 1 year, as compared with non-SCORE patients. Discharge to primary care and achievement of target LDL continued to be higher among those under the SCORE protocol even after multivariate analysis. Rates of hospital admission due to cardiovascular causes were not significantly different. Care coordination improved the rate of transition of post-PCI patients to primary care and improved LDL control, with no difference in the rate of hospital admissions due to cardiovascular causes. These findings support the implementation of a standardized follow-up protocol in patients who have undergone PCI. © The Author 2016. Published by Oxford University Press in association with the International Society for Quality in Health Care. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

Sub-Symptomatic Aerobic Exercise for Patients with Post-Concussion Syndrome: A Critically Appraised Topic.

PubMed

Ritter, Katrina G; Hussey, Matthew J; Valovich McLeod, Tamara C

2017-09-27

Clinical Scenario: Patients who experience prolonged concussion symptoms can be diagnosed with Post-Concussion Syndrome (PCS) when those symptoms persist past 4 weeks. Aerobic exercise protocols have been shown to be effective in improving physical and mental aspects of health. Emerging research suggests that aerobic exercise maybe useful as a treatment for PCS, where exercise allows patients to feel less isolated and more active during the recovery process. Is aerobic exercise more beneficial in reducing symptoms than current standard care in patients with prolonged symptoms or PCS lasting longer than 4 weeks? Summary of Key Findings: After a thorough literature search, 4 studies were selected relevant to the clinical question. Of the 4 studies, 1 was a randomized control trial and 3 were case series. All 4 studies investigate aerobic exercise protocol as treatment for PCS. 1-4 Three articles demonstrated a greater rate of symptom improvement from baseline assessment to follow-up after a controlled sub-symptomatic aerobic exercise program. 2-4 One study showed a decrease in symptoms in the aerobic exercise group compared to the full body stretching group. 1 Clinical Bottom Line: There is moderate evidence to support sub-symptomatic aerobic exercise as a treatment of PCS, therefore it should be considered as a clinical option for reducing PCS and prolonged concussion symptoms. A previously validated protocol, such as the Buffalo Concussion Treadmill Test, Balke Protocol, or Rating of Perceived Exertion (RPE) as mentioned in this critically appraised topic should be used to measure baseline values and treatment progression. Strength of Recommendation: Level C evidence exists that aerobic exercise protocol is more effective than the current standard of care in treating PCS.

Lynch syndrome: barriers to and facilitators of screening and disease management.

PubMed

Watkins, Kathy E; Way, Christine Y; Fiander, Jacqueline J; Meadus, Robert J; Esplen, Mary Jane; Green, Jane S; Ludlow, Valerie C; Etchegary, Holly A; Parfrey, Patrick S

2011-09-07

Lynch syndrome is a hereditary cancer with confirmed carriers at high risk for colorectal (CRC) and extracolonic cancers. The purpose of the current study was to develop a greater understanding of the factors influencing decisions about disease management post-genetic testing. The study used a grounded theory approach to data collection and analysis as part of a multiphase project examining the psychosocial and behavioral impact of predictive DNA testing for Lynch syndrome. Individual and small group interviews were conducted with individuals from 10 families with the MSH2 intron 5 splice site mutation or exon 8 deletion. The data from confirmed carriers (n = 23) were subjected to re-analysis to identify key barriers to and/or facilitators of screening and disease management. Thematic analysis identified personal, health care provider and health care system factors as dominant barriers to and/or facilitators of managing Lynch syndrome. Person-centered factors reflect risk perceptions and decision-making, and enduring screening/disease management. The perceived knowledge and clinical management skills of health care providers also influenced participation in recommended protocols. The health care system barriers/facilitators are defined in terms of continuity of care and coordination of services among providers. Individuals with Lynch syndrome often encounter multiple barriers to and facilitators of disease management that go beyond the individual to the provider and health care system levels. The current organization and implementation of health care services are inadequate. A coordinated system of local services capable of providing integrated, efficient health care and follow-up, populated by providers with knowledge of hereditary cancer, is necessary to maintain optimal health.

Effect of different exercise intensities on the pancreas of animals with metabolic syndrome.

PubMed

Amaral, Fernanda; Lima, Nathalia Ea; Ornelas, Elisabete; Simardi, Lucila; Fonseca, Fernando Luiz Affonso; Maifrino, Laura Beatriz Mesiano

2015-01-01

Metabolic syndrome (MS) comprises several metabolic disorders that are risk factors for cardiovascular disease and has its source connected to the accumulation of visceral adipose tissue (VAT) and development of insulin resistance. Despite studies showing beneficial results of exercise on several risk factors for cardiovascular disease, studies evaluating the effects of different intensities of exercise training on the pancreas with experimental models are scarce. In total, 20 Wistar rats were used, divided into four groups: control (C), metabolic syndrome (MS and without exercise), metabolic syndrome and practice of walking (MSWalk), and metabolic syndrome and practice of running (MSRun). The applied procedures were induction of MS by fructose in drinking water; experimental protocol of walking and running; weighing of body mass and VAT; sacrifice of animals with blood collection and removal of organs and processing of samples for light microscopy using the analysis of volume densities (Vv) of the studied structures. Running showed a reduction of VAT weight (-54%), triglyceride levels (-40%), Vv[islet] (-62%), Vv[islet.cells] (-22%), Vv[islet.insterstitial] (-44%), and Vv[acinar.insterstitial] (-24%) and an increase of Vv[acini] (+21%) and Vv[acinar.cells] (+22%). Regarding walking, we observed a decrease of VAT weight (-34%) and triglyceride levels (-27%), an increase of Vv[islet.cells] (+72%) and Vv[acinar.cells] (+7%), and a decrease of Vv[acini] (-4%) and Vv[acinar.insterstitial] (-16%) when compared with those in the MS group. Our results suggest that the experimental model with low-intensity exercise (walking) seems to be more particularly recommended for preventing morphological and metabolic disorders occurring in the MS.

Fetal Therapy Model of Myelomeningocele with Three-Dimensional Skin Using Amniotic Fluid Cell-Derived Induced Pluripotent Stem Cells.

PubMed

Kajiwara, Kazuhiro; Tanemoto, Tomohiro; Wada, Seiji; Karibe, Jurii; Ihara, Norimasa; Ikemoto, Yu; Kawasaki, Tomoyuki; Oishi, Yoshie; Samura, Osamu; Okamura, Kohji; Takada, Shuji; Akutsu, Hidenori; Sago, Haruhiko; Okamoto, Aikou; Umezawa, Akihiro

2017-06-06

Myelomeningocele (MMC) is a congenital disease without genetic abnormalities. Neurological symptoms are irreversibly impaired after birth, and no effective treatment has been reported to date. Only surgical repairs have been reported so far. In this study, we performed antenatal treatment of MMC with an artificial skin using induced pluripotent stem cells (iPSCs) generated from a patient with Down syndrome (AF-T21-iPSCs) and twin-twin transfusion syndrome (AF-TTTS-iPSCs) to a rat model. We manufactured three-dimensional skin with epidermis generated from keratinocytes derived from AF-T21-iPSCs and AF-TTTS-iPSCs and dermis of human fibroblasts and collagen type I. For generation of epidermis, we developed a protocol using Y-27632 and epidermal growth factor. The artificial skin was successfully covered over MMC defect sites during pregnancy, implying a possible antenatal surgical treatment with iPSC technology. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

The development of a sleep disorder screening program in Australian community pharmacies.

PubMed

Tran, Adam; Fuller, Joanne M; Wong, Keith K; Krass, Ines; Grunstein, Ron; Saini, Bandana

2009-08-01

To develop, pilot and determine the feasibility of a sleep-specific screening and awareness program in community pharmacies. The screening was piloted in five Australian community pharmacies. The Pharmacy Tool for Assessment of Sleep Health was constructed by drawing on known relationships between sleep disorders, and lifestyle factors, medical conditions and medications. Four validated instruments were used in the screening tool: the Epworth Sleepiness Scale (ESS), Insomnia Severity Index (ISI), Multivariable Apnea Prediction Index (MAPI) and International Restless Legs Syndrome Study Group Screening Criteria (IRLS). These instruments were used to predict the participant's risk of a sleep disorder and the results were compared with reported lifestyle, medical and medication factors. On-site training of consenting pharmacists was provided, followed by an eight week client recruiting and screening period. Feedback was elicited from participating pharmacists and clients. The feasibility of, and trends found from, the developed screening tool and protocol. Of 167 clients who requested or were invited to participate by pharmacists, 84 (50.3%) were screened. Analysis of collected data indicated that 33.3%, 21.4% and 27.4% of participants were at risk of having or developing insomnia, obstructive sleep apnea (OSA) and restless legs syndrome (RLS) respectively, while 38.1% were not at risk of any of the screened disorders. OSA odds increased 12.8 times (95% CI: 3.2-50.4) with diabetes and 4.9 times (1.2-20.9) with opioid use, while shift workers were 8.4 times (1.6-43.2) more likely to have insomnia. Participants and pharmacists reported the screening protocol and instrument was user friendly and feasible. The development and pilot of this screening tool was successful. The prevalence of sleep disorders in the sampled population was high but generally consistent with previous studies on the general population. Furthermore, associations found may form a foundation for a clinical algorithm to identify those at a higher risk of having or developing a sleep disorder. Further work is required to validate this screening tool in the community pharmacy context.

Idiopathic corporeal hemihypertrophy associated with hemihypertrichosis.

PubMed

Maniar, S; Azzi, K; Iraqi, H; El Hassan Garbi, M; Chraibi, A; Gaouzi, A

2011-02-01

The hemihypertrophy or hemihyperplasy is a rare congenital abnormality, characterized by an asymmetric growth of the limbs, the trunk, and the face or half of the entire body. It may be isolated or be part of several syndromes including Beckwith-Wiedemann syndrome, Klippel-Trenaunay-Weber syndrome, Silver-Russell syndrome and Proteus syndrome. In its isolated form, it is called idiopathic. The latter may be associated with several anomalies including dermatological and urogenital abnormalities with increased risk of developing embryonal tumors. We report the case of a 22-month-old infant, who was referred by his pediatrician at the age of 15 months for a corporeal hemihypertrophy associated with hemihypertrichosis. In his medical history, a second degree parental consanguinity and a hypospadias in the father and a paternal uncle were found. Clinical examination found a weight and a size greater than chronological age (3 standard deviations), a hemihypertrophy of entire left side with a difference of length and diameter between the left and right limbs of 2 cm. The hemihypertrichosis was widespread in the left body and the genital examination found a hypospadias. Biological and radiological assessments did not show any abnormality, with the exception of an initially high plasma testosterone level, which gradually normalized. Thus, the diagnosis of idiopathic hemihypertrophy with congenital hemihypertrichosis was retained. This is the fourth case reported in the literature. Its management is similar to all hemihypertrophies, which consists of an initial assessment to detect an embryonic tumor, followed by a monitoring protocol including an abdominal and renal ultrasound every 6 months until the age of 8, determination of alpha-feto-protein every 6 to 12 weeks until the age of 4 years to track the development of the two most frequent tumors: Wilms tumor and hepatoblastoma. The hemihypertrophy associated with hemihypertrichosis has been exceptionally reported and the cause of this association has not been identified to date. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

Craniofacial morphology in patients with velocardiofacial syndrome.

PubMed

Dalben, Gisele da Silva; Richieri-Costa, Antonio; Taveira, Luís Antônio de Assis

2010-05-01

To compare cephalometric measurements of patients with and without velocardiofacial syndrome. Cross-sectional. Public tertiary craniofacial center. Lateral cephalograms of 18 patients with velocardiofacial syndrome and 18 controls without morphofunctional alterations, matched for gender and age; all cephalograms were obtained before orthodontic intervention. The cephalograms were manually traced and digitized for the achievement of linear and angular measurements. Individuals with velocardiofacial syndrome presented a reduced length of the skull base, retrusion of nasal bones, reduced posterior height of the maxilla, increased gonial angle, increased interincisal angle, greater lingual inclination of the mandibular incisors, reduced nasolabial angle, and reduced nasal depth compared with the control group. Patients with velocardiofacial syndrome presented morphological differences compared with individuals without morphofunctional alterations, which might be considered in the evaluation of patients with suspected diagnosis of the syndrome, as well as for the establishment of treatment protocols adequate to their needs. The present findings did not support the hypothesis of differences in pharyngeal dimensions mentioned by other authors, suggesting that the velopharyngeal insufficiency in these patients may be caused by functional alterations rather than by anatomical differences.

Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis and Guillain-Barre Syndrome in a 16-Month-Old Child

PubMed Central

Shimizu, Mariko; Ioi, Aya; Mayumi, Azusa; Higuchi, Kohei; Sawada, Akihisa; Sato, Maho; Yasui, Masahiro; Yanagihara, Keiko; Inoue, Masami

2016-01-01

A 16-month-old girl was diagnosed with Epstein-Barr virus hemophagocytic lymphohistiocytosis and transferred to our hospital on the 58th day of the hemophagocytic lymphohistiocytosis after treatment failure according to the Hemophagocytic Lymphohistiocytosis-2004 protocol. On admission to our hospital, she had a flaccid paralysis of her lower limbs. Nerve conduction studies showed a acute motor axonal neuropathy, and a diagnosis of Guillain-Barre syndrome was established. Intravenous immunoglobulin G was started on the 57th day of the Guillain-Barre syndrome. To date, her neurological recovery is incomplete. For hemophagocytic lymphohistiocytosis, after treatment failure of THP-COP regimen (pirarubicin, cyclophosphamide, vincristine, and prednisone) and 2 courses of ESCAP regimen (etoposide, prednisone, cytarabine, L-asparaginase), we are now in the process of coordinating unrelated umbilical cord blood transplantation. To the best of our knowledge, we report the youngest case of Guillain-Barre syndrome accompanied by Epstein-Barr virus hemophagocytic lymphohistiocytosis. Rapid progression of Guillain-Barre syndrome, the electrophysiological subtype of Guillain-Barre syndrome, and treatment delay possibly led to poor neurological outcome. PMID:28503601

Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis and Guillain-Barre Syndrome in a 16-Month-Old Child.

PubMed

Matsui, Motohiro; Shimizu, Mariko; Ioi, Aya; Mayumi, Azusa; Higuchi, Kohei; Sawada, Akihisa; Sato, Maho; Yasui, Masahiro; Yanagihara, Keiko; Inoue, Masami

2016-01-01

A 16-month-old girl was diagnosed with Epstein-Barr virus hemophagocytic lymphohistiocytosis and transferred to our hospital on the 58th day of the hemophagocytic lymphohistiocytosis after treatment failure according to the Hemophagocytic Lymphohistiocytosis-2004 protocol. On admission to our hospital, she had a flaccid paralysis of her lower limbs. Nerve conduction studies showed a acute motor axonal neuropathy, and a diagnosis of Guillain-Barre syndrome was established. Intravenous immunoglobulin G was started on the 57th day of the Guillain-Barre syndrome. To date, her neurological recovery is incomplete. For hemophagocytic lymphohistiocytosis, after treatment failure of THP-COP regimen (pirarubicin, cyclophosphamide, vincristine, and prednisone) and 2 courses of ESCAP regimen (etoposide, prednisone, cytarabine, L-asparaginase), we are now in the process of coordinating unrelated umbilical cord blood transplantation. To the best of our knowledge, we report the youngest case of Guillain-Barre syndrome accompanied by Epstein-Barr virus hemophagocytic lymphohistiocytosis. Rapid progression of Guillain-Barre syndrome, the electrophysiological subtype of Guillain-Barre syndrome, and treatment delay possibly led to poor neurological outcome.

Resolution of Graves' disease after renal transplantation.

PubMed

Lee, Yvonne; Butani, Lavjay; Glaser, Nicole; Nguyen, Stephanie

2016-06-01

We report a case of an adolescent boy with Down's syndrome and ESRD on hemodialysis who developed mild Graves' disease that was not amenable to radioablation, surgery, or ATDs. After 14 months of observation without resolution of Graves' disease, he successfully received a DDRT with a steroid minimization protocol. Thymoglobulin and a three-day course of steroids were used for induction and he was started on tacrolimus, MMF, and pravastatin for maintenance transplant immunosuppression. One month after transplantation, all biochemical markers and antibody profiling for Graves' disease had resolved and remain normal one yr later. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Intensive outpatient comprehensive behavioral intervention for tics: A case series

PubMed Central

Blount, Tabatha H; Lockhart, Ann-Louise T; Garcia, Rocio V; Raj, Jeslina J; Peterson, Alan L

2014-01-01

Recent randomized clinical trials have established the efficacy of Comprehensive Behavioral Intervention for Tics (CBIT) in treating children and adults with Tourette syndrome and persistent tic disorders. However, the standard CBIT protocol uses a weekly outpatient treatment format (i.e., 8 sessions over 10 wk), which may be inconvenient or impractical for some patients, particularly patients, who are required to travel long distances in order to receive care. In contrast, an intensive outpatient program may increase accessibility to evidence-based behavioral treatments for Tourette syndrome and other persistent tic disorders by eliminating the necessity of repeated travel. This case series evaluated the use of an intensive outpatient program CBIT (IOP CBIT) for the treatment of 2 preadolescent males (ages 10 and 14 years) with Tourette syndrome. The IOP CBIT treatment protocol included several hours of daily treatment over a 4-d period. Both children evidenced notable reductions in their tics and maintained treatment gains at follow-up. Moreover, both patients and their parents expressed treatment satisfaction with the IOP CBIT format. This case series addresses an important research gap in the behavioral treatment of tic disorders literature. The patients’ treatment outcomes indicate that IOP CBIT is a promising treatment that warrants more systematic investigation. PMID:25325069

Efficacy of web-based cognitive-behavioural therapy for chronic fatigue syndrome: randomised controlled trial.

PubMed

Janse, A; Worm-Smeitink, M; Bleijenberg, G; Donders, R; Knoop, H

2018-02-01

Face-to-face cognitive-behavioural therapy (CBT) leads to a reduction of fatigue in chronic fatigue syndrome (CFS). Aims To test the efficacy of internet-based CBT (iCBT) for adults with CFS. A total of 240 patients with CFS were randomised to either iCBT with protocol-driven therapist feedback or with therapist feedback on demand, or a waiting list. Primary outcome was fatigue severity assessed with the Checklist Individual Strength (Netherlands Trial Register: NTR4013). Compared with a waiting list, intention-to-treat (ITT) analysis showed a significant reduction of fatigue for both iCBT conditions (protocol-driven feedback: B = -8.3, 97.5% CI -12.7 to -3.9, P < 0.0001; feedback on demand: B = -7.2, 97.5% CI -11.3 to -3.1, P < 0.0001). No significant differences were found between both iCBT conditions on all outcome measures (P = 0.3-0.9). An exploratory analysis revealed that feedback-on-demand iCBT required less therapist time (mean 4 h 37 min) than iCBT with protocol-driven feedback (mean 6 h 9 min, P < 0.001) and also less than face-to-face CBT as reported in the literature. Both iCBT conditions are efficacious and time efficient. Declaration of interest None.

Spectrum of Steroid-Resistant and Congenital Nephrotic Syndrome in Children: The PodoNet Registry Cohort

PubMed Central

Trautmann, Agnes; Bodria, Monica; Ozaltin, Fatih; Gheisari, Alaleh; Melk, Anette; Azocar, Marta; Anarat, Ali; Caliskan, Salim; Emma, Francesco; Gellermann, Jutta; Oh, Jun; Baskin, Esra; Ksiazek, Joanna; Remuzzi, Giuseppe; Erdogan, Ozlem; Akman, Sema; Dusek, Jiri; Davitaia, Tinatin; Özkaya, Ozan; Papachristou, Fotios; Firszt-Adamczyk, Agnieszka; Urasinski, Tomasz; Testa, Sara; Krmar, Rafael T.; Hyla-Klekot, Lidia; Pasini, Andrea; Özcakar, Z. Birsin; Sallay, Peter; Cakar, Nilgun; Galanti, Monica; Terzic, Joelle; Aoun, Bilal; Caldas Afonso, Alberto; Szymanik-Grzelak, Hanna; Lipska, Beata S.; Schnaidt, Sven

2015-01-01

Background and objectives Steroid-resistant nephrotic syndrome is a rare kidney disease involving either immune-mediated or genetic alterations of podocyte structure and function. The rare nature, heterogeneity, and slow evolution of the disorder are major obstacles to systematic genotype-phenotype, intervention, and outcome studies, hampering the development of evidence-based diagnostic and therapeutic concepts. To overcome these limitations, the PodoNet Consortium has created an international registry for congenital nephrotic syndrome and childhood-onset steroid-resistant nephrotic syndrome. Design, setting, participants, & measurements Since August of 2009, clinical, biochemical, genetic, and histopathologic information was collected both retrospectively and prospectively from 1655 patients with childhood-onset steroid-resistant nephrotic syndrome, congenital nephrotic syndrome, or persistent subnephrotic proteinuria of likely genetic origin at 67 centers in 21 countries through an online portal. Results Steroid-resistant nephrotic syndrome manifested in the first 5 years of life in 64% of the patients. Congenital nephrotic syndrome accounted for 6% of all patients. Extrarenal abnormalities were reported in 17% of patients. The most common histopathologic diagnoses were FSGS (56%), minimal change nephropathy (21%), and mesangioproliferative GN (12%). Mutation screening was performed in 1174 patients, and a genetic disease cause was identified in 23.6% of the screened patients. Among 14 genes with reported mutations, abnormalities in NPHS2 (n=138), WT1 (n=48), and NPHS1 (n=41) were most commonly identified. The proportion of patients with a genetic disease cause decreased with increasing manifestation age: from 66% in congenital nephrotic syndrome to 15%–16% in schoolchildren and adolescents. Among various intensified immunosuppressive therapy protocols, calcineurin inhibitors and rituximab yielded consistently high response rates, with 40%–45% of patients achieving complete remission. Confirmation of a genetic diagnosis but not the histopathologic disease type was strongly predictive of intensified immunosuppressive therapy responsiveness. Post-transplant disease recurrence was noted in 25.8% of patients without compared with 4.5% (n=4) of patients with a genetic diagnosis. Conclusions The PodoNet cohort may serve as a source of reference for future clinical and genetic research in this rare but significant kidney disease. PMID:25635037

Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort.

PubMed

Trautmann, Agnes; Bodria, Monica; Ozaltin, Fatih; Gheisari, Alaleh; Melk, Anette; Azocar, Marta; Anarat, Ali; Caliskan, Salim; Emma, Francesco; Gellermann, Jutta; Oh, Jun; Baskin, Esra; Ksiazek, Joanna; Remuzzi, Giuseppe; Erdogan, Ozlem; Akman, Sema; Dusek, Jiri; Davitaia, Tinatin; Özkaya, Ozan; Papachristou, Fotios; Firszt-Adamczyk, Agnieszka; Urasinski, Tomasz; Testa, Sara; Krmar, Rafael T; Hyla-Klekot, Lidia; Pasini, Andrea; Özcakar, Z Birsin; Sallay, Peter; Cakar, Nilgun; Galanti, Monica; Terzic, Joelle; Aoun, Bilal; Caldas Afonso, Alberto; Szymanik-Grzelak, Hanna; Lipska, Beata S; Schnaidt, Sven; Schaefer, Franz

2015-04-07

Steroid-resistant nephrotic syndrome is a rare kidney disease involving either immune-mediated or genetic alterations of podocyte structure and function. The rare nature, heterogeneity, and slow evolution of the disorder are major obstacles to systematic genotype-phenotype, intervention, and outcome studies, hampering the development of evidence-based diagnostic and therapeutic concepts. To overcome these limitations, the PodoNet Consortium has created an international registry for congenital nephrotic syndrome and childhood-onset steroid-resistant nephrotic syndrome. Since August of 2009, clinical, biochemical, genetic, and histopathologic information was collected both retrospectively and prospectively from 1655 patients with childhood-onset steroid-resistant nephrotic syndrome, congenital nephrotic syndrome, or persistent subnephrotic proteinuria of likely genetic origin at 67 centers in 21 countries through an online portal. Steroid-resistant nephrotic syndrome manifested in the first 5 years of life in 64% of the patients. Congenital nephrotic syndrome accounted for 6% of all patients. Extrarenal abnormalities were reported in 17% of patients. The most common histopathologic diagnoses were FSGS (56%), minimal change nephropathy (21%), and mesangioproliferative GN (12%). Mutation screening was performed in 1174 patients, and a genetic disease cause was identified in 23.6% of the screened patients. Among 14 genes with reported mutations, abnormalities in NPHS2 (n=138), WT1 (n=48), and NPHS1 (n=41) were most commonly identified. The proportion of patients with a genetic disease cause decreased with increasing manifestation age: from 66% in congenital nephrotic syndrome to 15%-16% in schoolchildren and adolescents. Among various intensified immunosuppressive therapy protocols, calcineurin inhibitors and rituximab yielded consistently high response rates, with 40%-45% of patients achieving complete remission. Confirmation of a genetic diagnosis but not the histopathologic disease type was strongly predictive of intensified immunosuppressive therapy responsiveness. Post-transplant disease recurrence was noted in 25.8% of patients without compared with 4.5% (n=4) of patients with a genetic diagnosis. The PodoNet cohort may serve as a source of reference for future clinical and genetic research in this rare but significant kidney disease. Copyright © 2015 by the American Society of Nephrology.

A study protocol of a randomised controlled trial to investigate if a community based strength training programme improves work task performance in young adults with Down syndrome.

PubMed

Shields, Nora; Taylor, Nicholas F; Fernhall, Bo

2010-03-25

Muscle strength is important for young people with Down syndrome as they make the transition to adulthood, because their workplace activities typically emphasise physical rather than cognitive skills. Muscle strength is reduced up to 50% in people with Down syndrome compared to their peers without disability. Progressive resistance training improves muscle strength and endurance in people with Down syndrome. However, there is no evidence on whether it has an effect on work task performance or physical activity levels. The aim of this study is to investigate if a student-led community-based progressive resistance training programme can improve these outcomes in adolescents and young adults with Down syndrome. A randomised controlled trial will compare progressive resistance training with a control group undertaking a social programme. Seventy adolescents and young adults with Down syndrome aged 14-22 years and mild to moderate intellectual disability will be randomly allocated to the intervention or control group using a concealed method. The intervention group will complete a 10-week, twice a week, student-led progressive resistance training programme at a local community gymnasium. The student mentors will be undergraduate physiotherapy students. The control group will complete an arts/social programme with a student mentor once a week for 90 minutes also for 10 weeks to control for the social aspect of the intervention. Work task performance (box stacking, pail carry), muscle strength (1 repetition maximum for chest and leg press) and physical activity (frequency, duration, intensity over 7-days) will be assessed at baseline (Week 0), following the intervention (Week 11), and at 3 months post intervention (Week 24) by an assessor blind to group allocation. Data will be analysed using ANCOVA with baseline measures as covariates. This paper outlines the study protocol for a randomised controlled trial on the effects of progressive resistance training on work task performance and physical activity for adolescents and young adults with Down syndrome. The intervention addresses the impairment of muscle weakness which may improve work task performance and help to increase physical activity levels. Australian New Zealand Clinical Trials Registry ACTRN12609000938202.

Cognitive-behavioral therapy for patients with irritable bowel syndrome: current insights.

PubMed

Kinsinger, Sarah W

2017-01-01

Irritable bowel syndrome (IBS) is a chronic gastrointestinal (GI) condition associated with significant health care utilization and quality-of-life impairment. Latest research indicates that the brain-gut axis plays a key role in the disorder, and the presence of psychological factors and central processing deficits contribute to symptom severity and disability. Psychological therapies as a whole have demonstrated good efficacy in reducing the severity of IBS symptoms. Cognitive-behavioral therapy (CBT) has been tested most rigorously in multiple randomized controlled trials and consistently demonstrates significant and durable effects on IBS symptoms and quality of life. Various protocols for treating IBS have been developed, and most recent advances in the field include exposure-based treatments to target symptom-specific anxiety as well as modified delivery methods, including internet-based treatment models. Despite the well-documented advantages of CBT for IBS, it has been poorly disseminated and few patients have access to this treatment. The primary barrier to dissemination is the limited number of therapists with adequate training in GI psychology to provide this evidence-based intervention. Future developments in the field need to focus on training opportunities to equip more therapists to competently provide CBT for this population. Further efforts to develop telemedicine platforms for delivering this intervention will also improve accessibility for patients.

Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project.

PubMed

Hart, Sarah J; Schoch, Kelly; Shashi, Vandana; Callanan, Nancy

2016-02-01

Individuals with 22q11.2 deletion syndrome (22q11.2DS) have an increased chance of developing a psychiatric disorder. While parents of children affected by 22q11.2DS typically receive counseling about risk for non-psychiatric health concerns, genetic counselors may be reluctant to discuss psychiatric risk. Further education of genetic counselors may be necessary to encourage discussion of psychiatric risk with these families. The goal of this project was to develop recommendations for genetic counselors to provide psychiatric risk information to families affected by 22q11.2DS. The recommendations were developed by synthesizing resources in the literature about risk communication. These recommendations were refined following an online focus group meeting with five health care professionals who were recruited for participation from 22q11.2DS clinics across the U.S.A. The focus group data revealed three themes related to discussion of psychiatric risk: 1) Stepwise approach, 2) Discussing treatment options and reducing risks, and 3) Addressing stigma. These recommendations may be used as a foundation for a future clinical protocol to encourage discussion about the risk for psychiatric illness at an earlier point in the diagnostic process for 22q11.2DS and to provide improved information, support and resources to affected families.

The MAPP research network: design, patient characterization and operations

PubMed Central

2014-01-01

Background The “Multidisciplinary Approach to the Study of Chronic Pelvic Pain” (MAPP) Research Network was established by the NIDDK to better understand the pathophysiology of urologic chronic pelvic pain syndromes (UCPPS), to inform future clinical trials and improve clinical care. The evolution, organization, and scientific scope of the MAPP Research Network, and the unique approach of the network’s central study and common data elements are described. Methods The primary scientific protocol for the Trans-MAPP Epidemiology/Phenotyping (EP) Study comprises a multi-site, longitudinal observational study, including bi-weekly internet-based symptom assessments, following a comprehensive in-clinic deep-phenotyping array of urological symptoms, non-urological symptoms and psychosocial factors to evaluate men and women with UCPPS. Healthy controls, matched on sex and age, as well as “positive” controls meeting the non-urologic associated syndromes (NUAS) criteria for one or more of the target conditions of Fibromyalgia (FM), Chronic Fatigue Syndrome (CFS) or Irritable Bowel Syndrome (IBS), were also evaluated. Additional, complementary studies addressing diverse hypotheses are integrated into the Trans-MAPP EP Study to provide a systemic characterization of study participants, including biomarker discovery studies of infectious agents, quantitative sensory testing, and structural and resting state neuroimaging and functional neurobiology studies. A highly novel effort to develop and assess clinically relevant animal models of UCPPS was also undertaken to allow improved translation between clinical and mechanistic studies. Recruitment into the central study occurred at six Discovery Sites in the United States, resulting in a total of 1,039 enrolled participants, exceeding the original targets. The biospecimen collection rate at baseline visits reached nearly 100%, and 279 participants underwent common neuroimaging through a standardized protocol. An extended follow-up study for 161 of the UCPPS participants is ongoing. Discussion The MAPP Research Network represents a novel, comprehensive approach to the study of UCPPS, as well as other concomitant NUAS. Findings are expected to provide significant advances in understanding UCPPS pathophysiology that will ultimately inform future clinical trials and lead to improvements in patient care. Furthermore, the structure and methodologies developed by the MAPP Network provide the foundation upon which future studies of other urologic or non-urologic disorders can be based. Trial registration ClinicalTrials.gov identifier: NCT01098279 “Chronic Pelvic Pain Study of Individuals with Diagnoses or Symptoms of Interstitial Cystitis and/or Chronic Prostatitis (MAPP-EP)”. http://clinicaltrials.gov/show/NCT01098279 PMID:25085119

Successful Teaching of Radiobiology Students in the Medical Management of Acute Radiation Effects From Real Case Histories Using Clinical Signs and Symptoms and Taking Advantage of Recently Developed Software Tools.

PubMed

Majewski, Matthäus; Combs, Stephanie E; Trott, Klaus-Rüdiger; Abend, Michael; Port, Matthias

2018-07-01

In 2015, the Bundeswehr Institute of Radiobiology organized a North Atlantic Treaty Organization exercise to examine the significance of clinical signs and symptoms for the prediction of late-occurring acute radiation syndrome. Cases were generated using either the Medical Treatment Protocols for Radiation Accident Victims (METREPOL, n = 167) system or using real-case descriptions extracted from a database system for evaluation and archiving of radiation accidents based on case histories (SEARCH, n = 24). The cases ranged from unexposed [response category 0 (RC 0, n = 89)] to mild (RC 1, n = 45), moderate (RC 2, n = 19), severe (RC 3, n = 20), and lethal (RC 4, n = 18) acute radiation syndrome. During the previous exercise, expert teams successfully predicted hematological acute radiation syndrome severity, determined whether hospitalization was required, and gave treatment recommendations, taking advantage of different software tools developed by the North Atlantic Treaty Organization teams. The authors provided the same data set to radiobiology students who were introduced to the medical management of acute effects after radiation exposure and the software tools during a class lasting 15 h. Corresponding to the previous results, difficulties in the discrimination between RC 0/RC 1 and RC 3/RC 4, as well as a systematic underestimation of RC 1 and RC 2, were observed. Nevertheless, after merging reported response categories into clinically relevant groups (RC 0-1, RC 2-3, and RC 3-4), it was found that the majority of cases (95.2% ± 2.2 standard deviations) were correctly identified and that 94.7% (±2.6 standard deviations) developing acute radiation syndrome and z96.4% (±1.6 standard deviations) requiring hospitalization were identified correctly. Two out of three student teams also provided a dose estimate. These results are comparable to the best-performing team of the 2015 North Atlantic Treaty Organization exercise (response category: 92.5%; acute radiation syndrome: 95.8%; hospitalization: 96.3%).

Carbohydrate intake, obesity, metabolic syndrome and cancer risk? A two-part systematic review and meta-analysis protocol to estimate attributability

PubMed Central

Sartorius, B; Sartorius, K; Aldous, C; Madiba, T E; Stefan, C; Noakes, T

2016-01-01

Introduction Linkages between carbohydrates, obesity and cancer continue to demonstrate conflicting results. Evidence suggests inconclusive direct linkages between carbohydrates and specific cancers. Conversely, obesity has been strongly linked to a wide range of cancers. The purpose of the study is to explore linkages between carbohydrate intake and cancer types using a two-step approach. First the study will evaluate the linkages between carbohydrate intake and obesity, potentially stratified by metabolic syndrome status. Second, the estimated attributable fraction of obesity ascribed to carbohydrate intake will be multiplied against obesity attributable fractions for cancer types to give estimated overall attributable fraction for carbohydrate versus cancer type. Methods and analysis We will perform a comprehensive search to identify all possible published and unpublished studies that have assessed risk factors for obesity including dietary carbohydrate intake. Scientific databases, namely PubMed MEDLINE, EMBASE, EBSCOhost and ISI Web of Science will be searched. Following study selection, paper/data acquisition, and data extraction and synthesis, we will appraise the quality of studies and risk of bias, as well as assess heterogeneity. Meta-weighted attributable fractions of obesity due to carbohydrate intake will be estimated after adjusting for other potential confounding factors (eg, physical inactivity, other dietary intake). Furthermore, previously published systematic reviews assessing the cancer-specific risk associated with obesity will also be drawn. These estimates will be linked with the attributability of carbohydrate intake in part 1 to estimate the cancer-specific burden that can be attributed to dietary carbohydrates. This systematic review protocol has been developed according to the ‘Preferred Reporting Items for Systematic review and Meta-Analysis Protocols (PRISMA-P) 2015’. Ethics and dissemination The current study will be based on published literature and data, and, as such, ethics approval is not required. The final results of this two part systematic review (plus multiplicative calculations) will be published in a relevant international peer-reviewed journal. Trial registration number PROSPERO CRD42015023257. PMID:26729382

Groin pain syndrome: an association of different pathologies and a case presentation

PubMed Central

Bisciotti, Gian Nicola; Auci, Alessio; Di Marzo, Francesco; Galli, Roberto; Pulici, Luca; Carimati, Giulia; Quaglia, Alessandro; Volpi, Piero

2015-01-01

Summary Background groin pain affects all types of athletes, especially soccer players. Many diseases with different etiologies may cause groin pain. Purpose offer a mini review of groin pain in soccer accompanied by the presentation of a case report highlighting the possible association of more clinical frameworks into the onset of groin pain syndrome, in order to recommend that clinical evaluations take into account possible associations between bone, muscle and tendon such as inguinal canal disease. Conclusion the multifactorial etiology of groin pain syndrome needs to be examined with a comprehensive approach, with standardized clinical evaluation based on an imaging protocol in order to evaluate all possible diseases. Study design Mini review- Case report (Level V). PMID:26605198

[Neurobiology of autism: Study of a sample of autistic children].

PubMed

Germanò, E; Gagliano, A; Magazù, A; Calarese, T; Calabrò, M E; Bonsignore, M; Tortorella, G; Calamoneri, F

2006-04-01

Recent studies on the neuroanatomic, neurofunctional and/or neurochemical features of the autistic disorder (AD) gave many evidences suggesting the hypothesis that different organic factors may lead to a disruption of the cerebral development finally expressing with an autistic pattern. The aim of this study was to study a sample of subjects with AD with a wide protocol, including neurophysiological and radiological investigations as well as laboratory investigations in order to investigate the neurobiologic basis of the syndrome. The patients group included 80 subjects diagnosed as having AD. All were examined with a protocol of investigations including: brain MRI; wakefulness and sleep EEG; VEP, ABR; karyotype and search of the fragile X; serum and urinary levels of serotonin, catecolamines, omovanillic acid, aminoacids, ammonium, lactic acid, creatine kinase, piruvic acid, calcium, uric acid, total proteins, antibodies against neurotrophic agents. Eighty-eight percent of subjects had at least one pathologic neurobiological parameter. This study highlights the different noxae involved in the etiopathogenesis of AD and the percentage that every biological factor has in the development of the autistic phenotype. Furthermore, it confirms that AD corresponds to an atypical behavioural phenotype expression of a cerebral dysfunction with heterogeneous etiology.

The association between rehabilitation programs and metabolic syndrome in chronic inpatients with schizophrenia.

PubMed

Lin, Yi-Chun; Lai, Chien-Liang; Chan, Hung-Yu

2017-12-02

The correlation between different rehabilitation programs and the prevalence of metabolic syndrome in people with schizophrenia is unclear. We tested the association in chronic inpatients with schizophrenia of a psychiatric hospital in Taiwan. Patients with schizophrenia and age from 20 to 65 years old were included. The criteria of metabolic syndrome were according to the adapted Adult Treatment Protocol for Asians. According to different types of rehabilitations, patients were divided into work group, occupational therapy group and daily activities group. A total of 359 chronic inpatients with schizophrenia were recruited. Participants had a mean age of 45.9 years and the prevalence of metabolic syndrome was 37.3%. There was a significantly higher prevalence of metabolic syndrome in the work group than in the daily activity group (adjusted odds ratio (aOR) = 1.91, 95% CI = 1.019-3.564, p < 0.05) after adjusted related confounders. Other factors associated with higher prevalence of metabolic syndrome included old age, female gender, low psychotic symptoms severity and clozapine user. This study identified a high prevalence of metabolic syndrome in chronic inpatients with schizophrenia especially in patients with good occupational function. Further investigation of the relationship between the occupational function and metabolic syndrome is necessary for chronic inpatients with schizophrenia. Copyright © 2017 Elsevier B.V. All rights reserved.

DiGeorge Syndrome: a not so rare disease

PubMed Central

Fomin, Angela BF; Pastorino, Antonio Carlos; Kim, Chong Ae; Pereira, Alexandre C; Carneiro‐Sampaio, Magda; Abe Jacob, Cristina Miuki

2010-01-01

INTRODUCTION: The DiGeorge Syndrome was first described in 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life. It is characterized by hypocalcemia due to hypoparathyroidism, heart defects, and thymic hypoplasia or aplasia. Its incidence is 1:3000 live births and, despite its high frequency, little is known about its natural history and progression. ←This is probably due to diagnostic difficulties and the great variety of names used to describe it, such as velocardiofacial, Shprintzen, DiGeorge, and CATCH 22 Syndromes, as well as conotruncal facial anomaly. All represent the same genetic condition, chromosome 22q11.2 deletion, which might have several clinical expressions. OBJECTIVES: To describe clinical and laboratorial data and phenotypic characteristics of patients with DiGeorge Syndrome. METHODS: Patients underwent standard clinical and epidemiological protocol and tests to detect heart diseases, facial abnormalities, dimorphisms, neurological or behavioral disorders, recurrent infections and other comorbidities. RESULTS: Of 14 patients (8m – 18y11m), only one did not have 22q11.2 deletion detected. The main findings were: conotruncal malformation (n  =  12), facial abnormalities (n  =  11), hypocalcemia (n  =  5) and low lymphocyte count (n = 2). CONCLUSION: The authors pointed out the necessity of DGS suspicion in all patient presenting with heart defects, facial abnormalities (associated or not with hypocalcemia), and immunological disorders because although frequency of DGS is high, few patients with a confirmed diagnosis are followed up. PMID:21049214

Child and adolescent Down syndrome-associated leukaemia: the Irish experience.

PubMed

O'Rafferty, C; Kelly, J; Storey, L; Ryan, C; O'Marcaigh, A; Smith, O

2015-12-01

Down syndrome (DS), the most common syndromic chromosomal abnormality is associated with a unique susceptibility to develop both acute myeloid (ML) and lymphoblastic leukaemia (ALL). These leukaemias differ from the non-DS-related types of leukaemia and are thought to be distinct biological entities. To perform a retrospective review of our experience of treating DS-related leukaemia at Our Lady's Children's Hospital. Data were extracted from a database established in 2000 to prospectively gather data on DS-associated leukaemias and their outcomes following polychemotherapy. Kaplan-Meier survival curves were constructed. Nineteen patients with DS-ML were treated and 19 with DS-ALL. Sixteen (84%) patients with DS-ML are alive and in complete remission with a median follow-up of 7 years. All deaths in this cohort were due to treatment-related mortality (TRM). Of the DS-ALL patients, 12 (63%) remain alive with a median follow-up of 3.6 years. TRM accounted for five of the six deaths. One death was due to leukaemic relapse. High cure rates are seen in DS-ML using contemporary polychemotherapy protocols, however, there is significant TRM in this cohort. DS-ALL does not have the same high cure rate as non-DS-ALL (>90%) and again this is mainly due to an excess of TRM.

Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA.

PubMed

Karaoglu, Pakize; Quizon, Nicolas; Pergande, Matthias; Wang, Haicui; Polat, Ayşe Ipek; Ersen, Ayca; Özer, Erdener; Willkomm, Lena; Hiz Kurul, Semra; Heredia, Raúl; Yis, Uluç; Selcen, Duygu; Çirak, Sebahattin

2017-04-01

Dropped head syndrome is an easily recognizable clinical presentation of Lamin A/C-related congenital muscular dystrophy. Patients usually present in the first year of life with profound neck muscle weakness, dropped head, and elevated serum creatine kinase. Two patients exhibited head drop during infancy although they were able to sit independently. Later they developed progressive axial and limb-girdle weakness. Creatine kinase levels were elevated and muscle biopsies of both patients showed severe dystrophic changes. The distinctive clinical hallmark of the dropped head led us to the diagnosis of Lamin A/C-related congenital muscular dystrophy, with a pathogenic de novo mutation p.Glu31del in the head domain of the Lamin A/C gene in both patients. Remarkably, one patient also had a central involvement with white matter changes on brain magnetic resonance imaging. Lamin A/C-related dropped-head syndrome is a rapidly progressive congenital muscular dystrophy and may lead to loss of ambulation, respiratory insufficiency, and cardiac complications. Thus, the genetic diagnosis of dropped-head syndrome as L-CMD and the implicated clinical care protocols are of vital importance for these patients. This disease may be underdiagnosed, as only a few genetically confirmed cases have been reported. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Recombinase polymerase amplification combined with a lateral flow dipstick for discriminating between infectious Penaeus stylirostris densovirus and virus-related sequences in shrimp genome.

PubMed

Jaroenram, Wansadaj; Owens, Leigh

2014-11-01

Penaeus stylirostris densovirus (PstDV) is an important shrimp pathogen that causes mortality in P. stylirostris and runt deformity syndrome (RDS) in Penaeus vannamei and Penaeus monodon. Recently, PstDV-related sequences were found in the genome of P. monodon and P. vannamei. This led to false positive results by PCR-based detection system. Here, a more efficient detection platform based on recombinase polymerase amplification (RPA) and a lateral flow dipstick (LFD) was developed for detecting PstDV. Under the optimal conditions, 30 min at 37°C for RPA followed by 5 min at room temperature for LFD, the protocol was 10 times more sensitive than the Saksmerphrome et al's interim 3-tube nested PCR and showed no cross-reaction with other shrimp viruses. It also reduced false positive results arising from viral inserts to ∼5% compared to 76-78% by the IQ2000™ nested PCR kit and the 309F/R PCR protocol currently recommended by World Organization for Animal Health (OIE) for PstDV detection. Together with simplicity and portability, the protocol serves as an alternative tool to PCR for primarily screening PstDV, which is suitable for both laboratory and field application. Copyright © 2014 Elsevier B.V. All rights reserved.

Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome.

PubMed

Murphy, Melissa M; Lindsey Burrell, T; Cubells, Joseph F; España, Roberto Antonio; Gambello, Michael J; Goines, Katrina C B; Klaiman, Cheryl; Li, Longchuan; Novacek, Derek M; Papetti, Ava; Sanchez Russo, Rossana Lucia; Saulnier, Celine A; Shultz, Sarah; Walker, Elaine; Mulle, Jennifer Gladys

2018-06-08

3q29 deletion syndrome is caused by a recurrent hemizygous 1.6 Mb deletion on the long arm of chromosome 3. The syndrome is rare (1 in 30,000 individuals) and is associated with mild to moderate intellectual disability, increased risk for autism and anxiety, and a 40-fold increased risk for schizophrenia, along with a host of physical manifestations. However, the disorder is poorly characterized, the range of manifestations is not well described, and the underlying molecular mechanism is not understood. We designed the Emory 3q29 Project to document the range of neurodevelopmental and psychiatric manifestations associated with 3q29 deletion syndrome. We will also create a biobank of samples from our 3q29 deletion carriers for mechanistic studies, which will be a publicly-available resource for qualified investigators. The ultimate goals of our study are three-fold: first, to improve management and treatment of 3q29 deletion syndrome. Second, to uncover the molecular mechanism of the disorder. Third, to enable cross-disorder comparison with other rare genetic syndromes associated with neuropsychiatric phenotypes. We will ascertain study subjects, age 6 and older, from our existing registry ( 3q29deletion.org ). Participants and their families will travel to Atlanta, GA for phenotypic assessments, with particular emphasis on evaluation of anxiety, cognitive ability, autism symptomatology, and risk for psychosis via prodromal symptoms and syndromes. Evaluations will be performed using standardized instruments. Structural, diffusion, and resting-state functional MRI data will be collected from eligible study participants. We will also collect blood from the 3q29 deletion carrier and participating family members, to be banked at the NIMH Repository and Genomics Resource (NRGR). The study of 3q29 deletion has the potential to transform our understanding of complex disease. Study of individuals with the deletion may provide insights into long term care and management of the disorder. Our project describes the protocol for a prospective study of the behavioral and clinical phenotype associated with 3q29 deletion syndrome. The paradigm described here could easily be adapted to study additional CNV or single gene disorders with high risk for neuropsychiatric phenotypes, and/or transferred to other study sites, providing a means for data harmonization and cross-disorder analysis.

Causal Reasoning in Medicine: Analysis of a Protocol.

ERIC Educational Resources Information Center

Kuipers, Benjamin; Kassirer, Jerome P.

1984-01-01

Describes the construction of a knowledge representation from the identification of the problem (nephrotic syndrome) to a running computer simulation of causal reasoning to provide a vertical slice of the construction of a cognitive model. Interactions between textbook knowledge, observations of human experts, and computational requirements are…

How Parents Introduce New Words to Young Children: The Influence of Development and Developmental Disorders

PubMed Central

Adamson, Lauren B.; Bakeman, Roger; Brandon, Benjamin

2015-01-01

This study documents how parents weave new words into on-going interactions with children who are just beginning to speak. Dyads with typically developing toddlers and with young children with autism spectrum disorder and Down syndrome (n = 56, 23, and 29) were observed using a Communication Play Protocol during which parents could use novel words to refer to novel objects. Parents readily introduced both labels and sound words even when their child did not respond expressively or produce the words. Results highlight both how parents act in ways that may facilitate their child's appreciation of the relation between a new word and its referent and how they subtly adjust their actions to suit their child's level of word learning and specific learning challenges. PMID:25863927

Changes in Knee Biomechanics After a Hip-Abductor Strengthening Protocol for Runners With Patellofemoral Pain Syndrome

PubMed Central

Ferber, Reed; Kendall, Karen D.; Farr, Lindsay

2011-01-01

Abstract Context: Very few authors have investigated the relationship between hip-abductor muscle strength and frontal-plane knee mechanics during running. Objective: To investigate this relationship using a 3-week hip-abductor muscle-strengthening program to identify changes in strength, pain, and biomechanics in runners with patellofemoral pain syndrome (PFPS). Design: Cohort study. Setting: University-based clinical research laboratory. Patients or Other Participants: Fifteen individuals (5 men, 10 women) with PFPS and 10 individuals without PFPS (4 men, 6 women) participated. Intervention(s): The patients with PFPS completed a 3-week hip-abductor strengthening protocol; control participants did not. Main Outcome Measure(s): The dependent variables of interest were maximal isometric hip-abductor muscle strength, 2-dimensional peak knee genu valgum angle, and stride-to-stride knee-joint variability. All measures were recorded at baseline and 3 weeks later. Between-groups differences were compared using repeated-measures analyses of variance. Results: At baseline, the PFPS group exhibited reduced strength, no difference in peak genu valgum angle, and increased stride-to-stride knee-joint variability compared with the control group. After the 3-week protocol, the PFPS group demonstrated increased strength, less pain, no change in peak genu valgum angle, and reduced stride-to-stride knee-joint variability compared with baseline. Conclusions: A 3-week hip-abductor muscle-strengthening protocol was effective in increasing muscle strength and decreasing pain and stride-to-stride knee-joint variability in individuals with PFPS. However, concomitant changes in peak knee genu valgum angle were not observed. PMID:21391799

Intervention development for the indicated prevention of depression in later life: the "DIL" protocol in Goa, India.

PubMed

Dias, Amit; Azariah, Fredric; Health, Public; Cohen, Alex; Anderson, Stewart; Morse, Jennifer; Cuijpers, Pim; Sequeira, Miriam; Psychology, M A; Gaude, Vithoba; Soares, Salvino; Patel, Vikram; Reynolds, Charles F

2017-06-01

Because depression is a major source of the global burden of illness- related disability, developing effective strategies for reducing its incidence is an important public health priority, especially in low-income countries, where resources for treating depression are scarce. We describe in this report an intervention development project, funded by the US National Institute of Mental Health, to address "indicated" prevention of depression in older adults attending rural and urban primary care clinics in Goa, India. Specifically, participants in the "DIL" ("Depression in Later Life") trial were older adults living with mild, subsyndromal symptoms of depression and anxiety and thus at substantial risk for transitioning to fully syndromal major depression and anxiety disorders. Building upon the MANAS treatment trial ("Promoting Mental Health") led by Patel et al in the same locale, we present here lessons learned in the development and implementation of a protocol utilizing lay health counsellors (LHCs) who deliver a multi-component depression prevention intervention organized conceptually around Problem Solving Therapy for Primary Care (PST), with additional components addressing brief behavioural treatment of sleep disturbances such as insomnia, meeting basic social casework needs, and education in self- management of prevalent comorbid chronic diseases, such as diabetes mellitus. To our knowledge, DIL is the first randomized clinical trial addressing the prevention of depressive disorders ever conducted in a low- or middle-income country.

Protocols and Hospital Mortality in Critically Ill Patients: The United States Critical Illness and Injury Trials Group Critical Illness Outcomes Study.

PubMed

Sevransky, Jonathan E; Checkley, William; Herrera, Phabiola; Pickering, Brian W; Barr, Juliana; Brown, Samuel M; Chang, Steven Y; Chong, David; Kaufman, David; Fremont, Richard D; Girard, Timothy D; Hoag, Jeffrey; Johnson, Steven B; Kerlin, Mehta P; Liebler, Janice; O'Brien, James; O'Keefe, Terence; Park, Pauline K; Pastores, Stephen M; Patil, Namrata; Pietropaoli, Anthony P; Putman, Maryann; Rice, Todd W; Rotello, Leo; Siner, Jonathan; Sajid, Sahul; Murphy, David J; Martin, Greg S

2015-10-01

Clinical protocols may decrease unnecessary variation in care and improve compliance with desirable therapies. We evaluated whether highly protocolized ICUs have superior patient outcomes compared with less highly protocolized ICUs. Observational study in which participating ICUs completed a general assessment and enrolled new patients 1 day each week. A total of 6,179 critically ill patients. Fifty-nine ICUs in the United States Critical Illness and Injury Trials Group Critical Illness Outcomes Study. None. The primary exposure was the number of ICU protocols; the primary outcome was hospital mortality. A total of 5,809 participants were followed prospectively, and 5,454 patients in 57 ICUs had complete outcome data. The median number of protocols per ICU was 19 (interquartile range, 15-21.5). In single-variable analyses, there were no differences in ICU and hospital mortality, length of stay, use of mechanical ventilation, vasopressors, or continuous sedation among individuals in ICUs with a high versus low number of protocols. The lack of association was confirmed in adjusted multivariable analysis (p = 0.70). Protocol compliance with two ventilator management protocols was moderate and did not differ between ICUs with high versus low numbers of protocols for lung protective ventilation in acute respiratory distress syndrome (47% vs 52%; p = 0.28) and for spontaneous breathing trials (55% vs 51%; p = 0.27). Clinical protocols are highly prevalent in U.S. ICUs. The presence of a greater number of protocols was not associated with protocol compliance or patient mortality.

Direct and rapid mass spectral fingerprinting of maternal urine for the detection of Down syndrome pregnancy.

PubMed

Iles, Ray K; Shahpari, Maryam E; Cuckle, Howard; Butler, Stephen A

2015-01-01

The established methods of antenatal screening for Down syndrome are based on immunoassay for a panel of maternal serum biomarkers together with ultrasound measures. Recently, genetic analysis of maternal plasma cell free (cf) DNA has begun to be used but has a number of limitations including excessive turn-around time and cost. We aimed to develop an alternative method based on urinalysis that is simple, affordable and accurate. 101 maternal urine samples sampled at 12-17 weeks gestation were taken from an archival collection of 2567 spot urines collected from women attending a prenatal screening clinic. 18 pregnancies in this set subsequently proved to be Down pregnancies. Samples were either neat urine or diluted between 10 to 1000 fold in dH2O and subjected to matrix assisted laser desorption ionization (MALDI), time of flight (ToF) mass spectrometry (MS). Data profiles were examined in the region 6,000 to 14,000 m/z. Spectral data was normalised and quantitative characteristics of the profile were compared between Down and controls. In Down cases there were additional spectral profile peaks at 11,000-12,000 m/z and a corresponding reduction in intensity at 6,000-8,000 m/z. The ratio of the normalised values at these two ranges completely separated the 8 Down syndrome from the 39 controls at 12-14 weeks. Discrimination was poorer at 15-17 weeks where 3 of the 10 Down syndrome cases had values within the normal range. Direct MALDI ToF mass spectral profiling of maternal urinary has the potential for an affordable, simple, accurate and rapid alternative to current Down syndrome screening protocols.

Cost-effectiveness analysis of ticagrelor compared to clopidogrel for the treatment of patients with acute coronary syndrome in Colombia.

PubMed

Mejía, Aurelio; Senior, Juan Manuel; Ceballos, Mateo; Atehortúa, Sara; Toro, Juan Manuel; Saldarriaga, Clara; Mejía, María Elena; Ramírez, Carolina

2015-01-01

Acute coronary syndrome is one of the most frequent medical emergencies in developing countries. To determine, from the perspective of the Colombian health system, the cost-effectiveness of ticagrelor compared to clopidogrel for the treatment of patients with acute coronary syndrome. We conducted a cost-effectiveness analysis from the perspective of the Colombian health system comparing ticagrelor and clopidogrel for the treatment of patients with acute coronary syndrome. To estimate the expected costs and outcomes, a Markov model was constructed in which patients could remain stable without experiencing new cardiovascular events, suffer from a new event, or die. For the baseline case, a 10-year time horizon and a discount ratio of 3% for costs and benefits were adopted. The transition probabilities were extracted from the PLATO (Platelet Inhibition and Patient Outcomes) clinical trial. Vital statistics were drawn from the Departmento Administrativo Nacional de Estadística (DANE) and additional information from Colombian patients included in the Access registry. To identify and measure resource use, a standard case was built by consulting guidelines and protocols. Unit costs were obtained from Colombian rate lists. A probabilistic sensitivity analysis was conducted in which costs were represented by a triangular distribution, and the effectiveness through a beta distribution. In the base case, the additional cost per quality-adjusted life-year gained with ticagrelor was COP$ 28,411,503. The results were sensitive to changes in the time horizon and the unit cost of clopidogrel. For a willingness-to-pay equivalent to three times the Colombian per capita gross domestic product, the probability of ticagrelor being cost-effective was 75%. Ticagrelor is a cost-effective strategy for the treatment of patients with acute coronary syndrome in Colombia.

[Morphological substrate and pathogenetic mechanisms of pelvic pain syndrome in endometriosis. Part II. Peripheral nerve tissue remodeling in the foci of endometriosis].

PubMed

Kogan, E A; Ovakimyan, A S; Paramonova, N B; Faizullina, N M; Kazachenko, I F; Adamyan, L V

2016-01-01

Endometriosis (EM) is morphologically characterized by the development of extrauterine endometrioid heterotopies, the major clinical symptoms of which is chronic pelvic pain, which is a serious problem not only in modern gynecology, but also in public health as a whole. to investigate neurogenic markers in the foci of EM of various sites and histological structure in women with and without pain syndrome. The investigation was performed using the operative material (resected segments of the intestine, bladder, rectovaginal septum, and small pelvic peritoneum) obtained from 52 women with an intraoperative and morphologically verified diagnosis of EM and (Group 1) and without (Group 2) pain syndrome. Immunohistochemical examination was made on paraffin-embedded tissue sections in accordance with the standard protocols, by using the antibodies: 1) anti-PGP 9.5 polyclonal rabbit antibodies; 2) mouse anti-human neurofilament (NF) protein monoclonal antibodies (Clone 2F1); 3) mouse anti-nerve growth factor (NGF) monoclonal antibodies; 4) monoclonal mouse anti-human NGF receptor p75 (NGFRp75) antibodies (Dako, Denmark). Our findings demonstrate differences in the expression of PGP 9.5, NFs, NGF, and NGFRp75 in the foci and adjacent tissue in painful and painless EM irrespective of the locations of heterotopies. The found molecular features are a manifestation of the remodeling of nerve fibers and nerve endings in the foci of EM and PGP9.5, NGF, and NGFRp75 give rise to nerve fiber neoformation and pain syndrome in EM. At the same time, the immunohistochemical phenotype of EM foci does not depend on their site and reflects the presence or absence of pain syndrome.

An Effective Oral Motor Intervention Protocol for Infants and Toddlers with Low Muscle Tone.

ERIC Educational Resources Information Center

Kumin, Libby; Von Hagel, Kimberly Chapman; Bahr, Diane Chapman

2001-01-01

Parents were trained to provide infants (n=4) with low muscle tone secondary to Down Syndrome with a home intervention oral motor training program. Four case studies indicate that all four children demonstrated improved oral motor function for eating, drinking, and speaking. (Contains references.) (DB)

Morbidity in pediatric burns, toxic shock syndrome, and antibiotic prophylaxis: a retrospective comparative study.

PubMed

Mulgrew, Stephen; Khoo, Anna; Cartwright, Rufus; Reynolds, Nick

2014-01-01

The prophylactic use of antibiotic for pediatric burns has been suggested as a possible means of reduction of toxic shock syndrome. In our study, we review 1250 burn cases during a 16-year period (1983-1999). There was a change in protocol during this period (after 1991, all pediatric burn received prophylactic antibiotics irrespective of presentation), thus creating 2 groups: our control who received antibiotics when clinically necessary and our cases who received antibiotics as routine prophylaxis. Our results show no statistical difference between the 2 groups both in signs of morbidity and signs of potential toxic shock syndrome. We conclude that prophylactic antibiotic use is unnecessary and the use of antibiotics should be guided on a case by case basis according to symptoms.

Oxygen Exposure Resulting in Arterial Oxygen Tensions Above the Protocol Goal Was Associated With Worse Clinical Outcomes in Acute Respiratory Distress Syndrome.

PubMed

Aggarwal, Neil R; Brower, Roy G; Hager, David N; Thompson, B Taylor; Netzer, Giora; Shanholtz, Carl; Lagakos, Adrian; Checkley, William

2018-04-01

High fractions of inspired oxygen may augment lung damage to exacerbate lung injury in patients with acute respiratory distress syndrome. Participants enrolled in Acute Respiratory Distress Syndrome Network trials had a goal partial pressure of oxygen in arterial blood range of 55-80 mm Hg, yet the effect of oxygen exposure above this arterial oxygen tension range on clinical outcomes is unknown. We sought to determine if oxygen exposure that resulted in a partial pressure of oxygen in arterial blood above goal (> 80 mm Hg) was associated with worse outcomes in patients with acute respiratory distress syndrome. Longitudinal analysis of data collected in these trials. Ten clinical trials conducted at Acute Respiratory Distress Syndrome Network hospitals between 1996 and 2013. Critically ill patients with acute respiratory distress syndrome. None. We defined above goal oxygen exposure as the difference between the fraction of inspired oxygen and 0.5 whenever the fraction of inspired oxygen was above 0.5 and when the partial pressure of oxygen in arterial blood was above 80 mm Hg. We then summed above goal oxygen exposures in the first five days to calculate a cumulative above goal oxygen exposure. We determined the effect of a cumulative 5-day above goal oxygen exposure on mortality prior to discharge home at 90 days. Among 2,994 participants (mean age, 51.3 yr; 54% male) with a study-entry partial pressure of oxygen in arterial blood/fraction of inspired oxygen that met acute respiratory distress syndrome criteria, average cumulative above goal oxygen exposure was 0.24 fraction of inspired oxygen-days (interquartile range, 0-0.38). Participants with above goal oxygen exposure were more likely to die (adjusted interquartile range odds ratio, 1.20; 95% CI, 1.11-1.31) and have lower ventilator-free days (adjusted interquartile range mean difference of -0.83; 95% CI, -1.18 to -0.48) and lower hospital-free days (adjusted interquartile range mean difference of -1.38; 95% CI, -2.09 to -0.68). We observed a dose-response relationship between the cumulative above goal oxygen exposure and worsened clinical outcomes for participants with mild, moderate, or severe acute respiratory distress syndrome, suggesting that the observed relationship is not primarily influenced by severity of illness. Oxygen exposure resulting in arterial oxygen tensions above the protocol goal occurred frequently and was associated with worse clinical outcomes at all levels of acute respiratory distress syndrome severity.

Eye-witness memory and suggestibility in children with Asperger syndrome.

PubMed

McCrory, Eamon; Henry, Lucy A; Happé, Francesca

2007-05-01

Individuals with autism spectrum disorders (ASD) present with a particular profile of memory deficits, executive dysfunction and impaired social interaction that may raise concerns about their recall and reliability in forensic and legal contexts. Extant studies of memory shed limited light on this issue as they involved either laboratory-based tasks or protocols that varied between participants. The current study used a live classroom event to investigate eye-witness recall and suggestibility in children with Asperger syndrome (AS group; N = 24) and typically developing children (TD group; N = 27). All participants were aged between 11 and 14 years and were interviewed using a structured protocol. Two measures of executive functioning were also administered. The AS group were found to be no more suggestible and no less accurate than their peers. However, free recall elicited less information, including gist, in the AS group. TD, but not AS, participants tended to focus on the socially salient aspects of the scene in their free recall. Both general and specific questioning elicited similar numbers of new details in both groups. Significant correlations were found between memory recall and executive functioning performance in the AS group only. The present study indicates that children with AS can act as reliable witnesses but they may be more reliant on questioning to facilitate recall. Our findings also provide evidence for poor gist memory. It is speculated that such differences stem from weak central coherence and lead to a reliance on generic cognitive processes, such as executive functions, during recall. Future studies are required to investigate possible differences in compliance, rates of forgetting and false memory.

A randomised trial of adaptive pacing therapy, cognitive behaviour therapy, graded exercise, and specialist medical care for chronic fatigue syndrome (PACE): statistical analysis plan

PubMed Central

2013-01-01

Background The publication of protocols by medical journals is increasingly becoming an accepted means for promoting good quality research and maximising transparency. Recently, Finfer and Bellomo have suggested the publication of statistical analysis plans (SAPs).The aim of this paper is to make public and to report in detail the planned analyses that were approved by the Trial Steering Committee in May 2010 for the principal papers of the PACE (Pacing, graded Activity, and Cognitive behaviour therapy: a randomised Evaluation) trial, a treatment trial for chronic fatigue syndrome. It illustrates planned analyses of a complex intervention trial that allows for the impact of clustering by care providers, where multiple care-providers are present for each patient in some but not all arms of the trial. Results The trial design, objectives and data collection are reported. Considerations relating to blinding, samples, adherence to the protocol, stratification, centre and other clustering effects, missing data, multiplicity and compliance are described. Descriptive, interim and final analyses of the primary and secondary outcomes are then outlined. Conclusions This SAP maximises transparency, providing a record of all planned analyses, and it may be a resource for those who are developing SAPs, acting as an illustrative example for teaching and methodological research. It is not the sum of the statistical analysis sections of the principal papers, being completed well before individual papers were drafted. Trial registration ISRCTN54285094 assigned 22 May 2003; First participant was randomised on 18 March 2005. PMID:24225069

Visual impairment evaluation in 119 children with congenital Zika syndrome.

PubMed

Ventura, Liana O; Ventura, Camila V; Dias, Natália de C; Vilar, Isabelle G; Gois, Adriana L; Arantes, Tiago E; Fernandes, Luciene C; Chiang, Michael F; Miller, Marilyn T; Lawrence, Linda

2018-06-01

To assess visual impairment in a large sample of infants with congenital Zika syndrome (CZS) and to compare with a control group using the same assessment protocol. The study group was composed of infants with confirmed diagnosis of CZS. Controls were healthy infants matched for age, sex, and socioeconomic status. All infants underwent comprehensive ophthalmologic evaluation including visual acuity, visual function assessment, and visual developmental milestones. The CZS group included 119 infants; the control group, 85 infants. At examination, the mean age of the CZS group was 8.5 ± 1.2 months (range, 6-13 months); of the controls, 8.4 ± 1.8 months (range, 5-12 months; P = 0.598). Binocular Teller Acuity Card (TAC) testing was abnormal in 107 CZS infants and in 4 controls (89.9% versus 5% [P < 0.001]). In the study group, abnormal monocular TAC results were more frequent in eyes with funduscopic alterations (P = 0.008); however, 104 of 123 structurally normal eyes (84.6%) also presented abnormal TAC results. Binocular contrast sensitivity was reduced in 87 of 107 CZS infants and in 8 of 80 controls (81.3% versus 10% [P < 0.001]). The visual development milestones were less achieved by infants with CZS compared to controls (P < 0.001). Infants with CZS present with severe visual impairment. A protocol for assessment of the ocular findings, visual acuity, and visual developmental milestones tested against age-matched controls is suggested. Copyright © 2018 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

Photodynamic treatment of a secondary vasoproliferative tumour associated with sector retinitis pigmentosa and Usher syndrome type I.

PubMed

Osman, Saatci A; Aylin, Yaman; Arikan, Gul; Celikel, Harika

2007-03-01

Vasoproliferative tumours may be primary or secondary and present with severe exudation leading to marked visual loss. We describe a 47-year-old man with unilateral secondary vasoproliferative tumour associated with sector retinitis pigmentosa and Usher I syndrome who was successfully treated with a single session of photodynamic treatment. Standard treatment protocol was used except that the treatment duration was doubled. A year after the treatment, the angioma-like tumour vanished and exudation was dramatically reduced. Photodynamic therapy seems to be a minimally invasive and safe technique in eyes with secondary vasoproliferative tumours.

GnRH Analogues in the Prevention of Ovarian Hyperstimulation Syndrome

PubMed Central

Alama, Pilar; Bellver, Jose; Vidal, Carmen; Giles, Juan

2013-01-01

The GnRH analogue (agonist and antagonist GnRH) changed ovarian stimulation. On the one hand, it improved chances of pregnancy to obtain more oocytes and better embryos. This leads to an ovarian hyper-response, which can be complicated by the ovarian hyperstimulation syndrome (OHSS). On the other hand, the GnRH analogue can prevent the incidence of OHSS: GnRH antagonist protocols, GnRH agonist for triggering final oocyte maturation, either together or separately, coasting, and the GnRH analogue may prove useful for avoiding OHSS in high-risk patients. We review these topics in this article. PMID:23825982

Imprinting Disorders and Assisted Reproductive Technology

PubMed Central

Owen, Carter M.; Segars, James H.

2009-01-01

Worldwide use of assisted reproductive technology (ART) accounts for an estimated 1 to 3% of births. Since 2002, a series of reports have suggested an increased risk of imprinting disorders (Beckwith-Wiedemann syndrome and Angelman syndrome) in children conceived by ART. Definitive conclusions are difficult to substantiate due to the rarity of imprinting disorders and the variability in ART protocols. Despite these limitations, there is biological plausibility for alteration in nongenomic inheritance caused by ART. Animal studies have shown that ART procedures can alter normal imprinting, specifically DNA methylation patterns. Collectively, studies suggest an association between ART and loss of maternal methylation. More recent reports examined a possible association between ART and global hypomethylation of DNA. Three other imprinting disorders (Silver-Russell syndrome, maternal hypomethylation syndrome, and retinoblastoma) have also been implicated, but there is insufficient evidence to establish an association of these syndromes with ART. Based on current evidence, the absolute risk of imprinting disorders after ART remains small and does not warrant routine screening. Large prospective studies are needed to better understand the risks associated with imprinting disorders, imprinting defects, and ART. PMID:19711252

Evaluating the impact of depression, anxiety & autonomic function on health related quality of life, vocational functioning and health care utilisation in acute coronary syndrome patients: the ADVENT study protocol

PubMed Central

2013-01-01

Background Depression and anxiety are highly prevalent and co-morbid in acute coronary syndrome patients. Somatic and cognitive subtypes of depression and anxiety in acute coronary syndrome have been shown to be associated with mortality although their association with patient outcomes is unknown, as are the mechanisms that underpin these associations. We are conducting a prospective cohort study which aims to examine in acute coronary syndrome patients: (1) the role of somatic subtypes of depression and anxiety as predictors of health related quality of life outcomes; (2) how somatic subtypes of depression and anxiety relate to long term vocational functioning and healthcare utilisation; and (3) the role of the autonomic nervous system assessed by heart rate variability as a moderator of these associations. Methods Patients are being screened after index admission for acute coronary syndrome at a single, high volume centre, MonashHeart, Monash Health, Victoria, Australia. The inclusion criterion is all patients aged > 21 years old and fluent in English admitted to MonashHeart, Monash Health with a diagnosis of acute coronary syndrome. The primary outcome is mean health related quality of life (Short Form-36) Physical and Mental Health Summary scores at 12 and 24 months in subtypes with somatic symptoms of depression and anxiety. Depressive domains are assessed by the Beck Depression Inventory II and the Cardiac Depression Scale. Anxiety is measured using the Speilberger State-Trait Anxiety Inventory and the Crown Crisp Phobic Anxiety questionnaire. Secondary outcomes include clinical variables, healthcare service utilisation and vocational functioning. Discussion This manuscript presents the protocol for a prospective cohort study which will investigate the role of somatic subtypes of depression and anxiety as predictors of health related quality of life, long-term vocational functioning and health service use, and the role of the autonomic nervous system in moderating these associations. Findings from the study have the potential to inform more effective pharmacological, psychological and behavioural interventions and better guide health policy on the use of health care resources. PMID:24237848

Effectiveness of Aquatic Therapy vs Land-based Therapy for Balance and Pain in Women with Fibromyalgia: a study protocol for a randomised controlled trial.

PubMed

Rivas Neira, Sabela; Pasqual Marques, Amélia; Pegito Pérez, Irene; Fernández Cervantes, Ramón; Vivas Costa, Jamile

2017-01-19

Fibromyalgia is a disease with an increasing incidence. It impairs the quality of life of patients and decreases their functional capacity. Aquatic therapy has already been used for managing the symptoms of this syndrome. However, aquatic therapy has only recently been introduced as a treatment modality for improving proprioception in fibromyalgia. The main objective of this study is to determine the effectiveness of two physiotherapy protocols, one in and one out of water, for improving balance and decreasing pain in women with fibromyalgia. The study protocol will be a single-blind randomised controlled trial. Forty women diagnosed with fibromyalgia will be randomly assigned into 2 groups: Aquatic Therapy (n = 20) or Land-based Therapy (n = 20). Both interventions include 60-min therapy sessions, structured into 4 sections: Warm-up, Proprioceptive Exercises, Stretching and Relaxation. These sessions will be carried out 3 times a week for 3 months. Primary outcomes are balance (static and dynamic) and pain (intensity and threshold). Secondary outcomes include functional balance, quality of life, quality of sleep, fatigue, self-confidence in balance and physical ability. Outcome measures will be evaluated at baseline, at the end of the 3-month intervention period, and 6-weeks post-treatment. Statistical analysis will be carried out using the SPSS 21.0 program for Windows and a significance level of p ≤ 0.05 will be used for all tests. This study protocol details two physiotherapy interventions in women with fibromyalgia to improve balance and decrease pain: aquatic therapy and land-based therapy. In current literature there is a lack of methodological rigour and a limited number of studies that describe physiotherapy protocols to manage fibromyalgia symptoms. High-quality scientific works are required to highlight physiotherapy as one of the most recommended treatment options for this syndrome. Date of publication in ClinicalTrials.gov: 18/02/2016. ClinicalTrials.gov Identifier: NCT02695875 .

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

Standardizing the care of detox patients to achieve quality outcomes.

PubMed

Becker, Kathy; Semrow, Sue

2006-03-01

Providing appropriate treatment for detoxification patients is both challenging and difficult because alcohol abuse and dependence are largely underestimated in the acute hospital setting. Alcohol withdrawal syndrome is treated not only by addictionologists on chemical dependency units, but also by primary care physicians in acute inpatient settings. The need for consistent inpatient treatment through the use of identified protocols can help provide safe and effective care. The need for consistent, inpatient medical-surgical detoxification treatment in our organization became apparent with the staff's identification of patient care concerns. Using an organizational approach, a multidisciplinary team was created to standardize the care of detoxification patients, beginning with patient admission and ending with discharge and referral for outpatient management. Standardization would ensure consistent assessment and intervention, and improve communication among the clinical team members. A protocol was developed for both the emergency department and the inpatient units. The goals of the team were to decrease the adverse events related to detoxification, such as seizures and aggression, and provide a consistent method of treatment for staff to follow.

Early aspirin desensitization in unstable patients with acute coronary syndrome: Short and long-term efficacy and safety.

PubMed

Córdoba-Soriano, Juan Gabriel; Corbí-Pascual, Miguel; López-Neyra, Isabel; Navarro-Cuartero, Javier; Hidalgo-Olivares, Víctor; Barrionuevo-Sánchez, Maria Isabel; Prieto-Mateos, Daniel; Gutiérrez-Díez, Antonio; Gallardo-López, Arsenio; Fuentes-Manso, Raquel; Gómez-Pérez, Alberto; Lafuente-Gormaz, Carlos; Jiménez-Mazuecos, Jesús

2016-11-01

Aspirin hypersensitivity is not a rare condition among patients with acute coronary syndrome. However, despite the publication of several successful desensitization protocols, the procedure is not as widespread as expected. We present a cohort of patients with acute coronary syndrome undergoing aspirin desensitization to evaluate its short- and long-term efficacy and safety and to reinforce data from previous studies. Of 1306 patients admitted to our Coronary Care Unit between February 2011 and February 2013, 24 (1.8%) had a history of aspirin hypersensitivity. All 24 patients underwent an eight-dose aspirin desensitization protocol (0.1, 0.3, 1, 3, 10, 25, 50 and 100 mg of aspirin given by mouth every 15 minutes) after premedication with antihistamines and corticosteroids or antileucotrienes. Previously prescribed β blockers and angiotensin-converting enzyme inhibitors were not discontinued. All patients were desensitized within 72 hours of admission. Those requiring urgent catheterization (five patients with ST segment elevation myocardial infarction) were desensitized within 12 hours of catheterization and the remainder before catheterization. All patients were successfully desensitized and only one presented with an urticarial reaction. The five patients with ST segment elevation myocardial infarction were treated with abciximab until desensitization was complete. All but one patient underwent catheterization and 20 underwent percutaneous coronary intervention, most (66%) with the implantation of a bare metal stent. At follow-up (a minimum of 6-24 months), only two patients had discontinued aspirin, both due to gastrointestinal bleeding, and no hypersensitivy reaction had occurred. Aspirin desensitization is effective and safe in unstable patients with acute coronary syndrome in both the short and long term.

Refeeding syndrome: clinical and nutritional relevance.

PubMed

Viana, Larissa de Andrade; Burgos, Maria Goretti Pessoa de Araújo; Silva, Rafaella de Andrade

2012-01-01

Feedback syndrome is characterized clinically by neurological alterations, respiratory symptoms, arrhythmias and heart failure few days after refeeding. It happens due to severe electrolyte changes, such as hypophosphatemia, hypomagnesemia and hypokalemia associated with metabolic abnormalities that may occur as a result of nutritional support (oral, enteral or parenteral) in severely malnourished patients. To evaluate its causes and the preventive dietary measures aiming to reduce the morbimortality. Was conducted literature review in SciELO, LILACS, Medline / PUBMED, Cochrane Library and government websites in Portuguese, English and Spanish. The survey was about the last 15 years, selecting the headings: refeeding syndrome, malnutrition, hypophosphatemia, hypokalemia, hypomagnesemia. The monitoring of metabolic parameters and electrolyte levels before starting nutritional support and periodically during feeding should be based on protocols and the duration of therapy. Patients at high risk and other metabolic complications should be followed closely, and depletion of minerals and electrolytes should be replaced before starting the diet. A multidisciplinary team of nutrition therapy can guide and educate other health professionals in prevention, diagnosis and treatment of the syndrome.

Systematic immunohistochemical screening for Lynch syndrome in colorectal cancer: a single centre experience of 486 patients.

PubMed

Zumstein, Valentin; Vinzens, Fabrizio; Zettl, Andreas; Heinimann, Karl; Koeberle, Dieter; von Flüe, Markus; Bolli, Martin

2016-01-01

Germline mutations in DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 cause autosomal dominantly inherited Lynch syndrome. Lynch syndrome patients and their families benefit from life-saving intensive cancer surveillance. Approximately one in 30 colorectal cancers arises in the setting of Lynch syndrome. The aim of this study was to assess the detection rate of Lynch syndrome at our institution after introduction of systematic immunohistochemical screening for MMR deficiency in colorectal cancers from 2011 to 2015. Following the recommendations by the Evaluation of Genomic Applications in Practice and Prevention working group all colorectal cancers were immunohistochemically stained for the presence of MMR proteins MLH1, PMS2, MSH2 and MSH6, independent of clinical criteria. In the case of loss of MLH1, the somatic BRAF mutation V600E was assessed with molecular testing and/or immunohistochemistry. Clinical follow-up of potential Lynch syndrome carriers (patients with tumours showing loss of MLH1 expression with absence of BRAFV600E, loss of PMS2, MSH2 or MSH6) was evaluated. Of all patients (n = 486), loss of MMR protein expression was found in 73 (15.0%) tumours. Twenty-eight (6.0%) were classified as potential Lynch syndrome carriers. Of the genetically tested potential Lynch syndrome carriers (10 out of 28 patients), 40% were first diagnosed with Lynch syndrome. Implementation of systematic immunohistochemistry screening for Lynch syndrome showed that 6% of colorectal cancers were potentially Lynch-syndrome related. Tumour board protocols should systematically contain information on MMR status of all colorectal cancers and, in MMR deficient cases, include clear recommendations for genetic counselling for all potential Lynch syndrome patients.

A quasi-experimental, before-after trial examining the impact of an emergency department mechanical ventilator protocol on clinical outcomes and lung-protective ventilation in acute respiratory distress syndrome

PubMed Central

Fuller, Brian M.; Ferguson, Ian T.; Mohr, Nicholas M.; Drewry, Anne M.; Palmer, Christopher; Wessman, Brian T.; Ablordeppey, Enyo; Keeperman, Jacob; Stephens, Robert J.; Briscoe, Cristopher C.; Kolomiets, Angelina A.; Hotchkiss, Richard S.; Kollef, Marin H.

2017-01-01

Objective To evaluate the impact of an emergency department (ED) mechanical ventilation protocol on clinical outcomes and adherence to lung-protective ventilation in patients with acute respiratory distress syndrome (ARDS). Design Quasi-experimental, before-after trial. Setting ED and intensive care units (ICU) of an academic center. Patients Mechanically ventilated ED patients experiencing ARDS while in the ED or after admission to the ICU. Interventions An ED ventilator protocol which targeted parameters in need of quality improvement, as identified by prior work: 1) lung-protective tidal volume; 2) appropriate setting of positive end-expiratory pressure (PEEP); 3) oxygen weaning; and 4) head-of-bed elevation. Measurements and Main Results A total of 229 patients (186 pre-intervention group, 43 intervention group) were studied. In the ED, the intervention was associated with significant changes (P < 0.01 for all) in tidal volume, PEEP, respiratory rate, oxygen administration, and head-of-bed elevation. There was a reduction in ED tidal volume from 8.1 mL/kg PBW (7.0 – 9.1) to 6.4 mL/kg PBW (6.1 – 6.7), and an increase in lung-protective ventilation from 11.1% to 61.5%, P < 0.01. The intervention was associated with a reduction in mortality from 54.8% to 39.5% (OR 0.38, 95% CI 0.17 – 0.83, P = 0.02), and a 3.9 day increase in ventilator-free days, P = 0.01. Conclusions This before-after study of mechanically ventilated patients with ARDS demonstrates that implementing a mechanical ventilator protocol in the ED is feasible, and associated with improved clinical outcomes. PMID:28157140

Novel targeted therapies for cancer cachexia.

PubMed

Argilés, Josep M; López-Soriano, Francisco Javier; Stemmler, Britta; Busquets, Sílvia

2017-07-27

Anorexia and metabolic alterations are the main components of the cachectic syndrome. Glucose intolerance, fat depletion, muscle protein catabolism and other alterations are involved in the development of cancer cachexia, a multi-organ syndrome. Nutritional approach strategies are not satisfactory in reversing the cachectic syndrome. The aim of the present review is to deal with the recent therapeutic targeted approaches that have been designed to fight and counteract wasting in cancer patients. Indeed, some promising targeted therapeutic approaches include ghrelin agonists, selective androgen receptor agonists, β-blockers and antimyostatin peptides. However, a multi-targeted approach seems absolutely essential to treat patients affected by cancer cachexia. This approach should not only involve combinations of drugs but also nutrition and an adequate program of physical exercise, factors that may lead to a synergy, essential to overcome the syndrome. This may efficiently reverse the metabolic changes described above and, at the same time, ameliorate the anorexia. Defining this therapeutic combination of drugs/nutrients/exercise is an exciting project that will stimulate many scientific efforts. Other aspects that will, no doubt, be very important for successful treatment of cancer wasting will be an optimized design of future clinical trials, together with a protocol for staging cancer patients in relation to their degree of cachexia. This will permit that nutritional/metabolic/pharmacological support can be started early in the course of the disease, before severe weight loss occurs. Indeed, timing is crucial and has to be taken very seriously when applying the therapeutic approach. © 2017 The Author(s); published by Portland Press Limited on behalf of the Biochemical Society.

Aging, the Central Nervous System, and Mobility in Older Adults: Interventions

PubMed Central

Hausdorff, Jeffrey M.; Studenski, Stephanie A.; Rosano, Caterina; Camicioli, Richard; Alexander, Neil B.; Chen, Wen G.; Lipsitz, Lewis A.; Carlson, Michelle C.

2016-01-01

Background: Research suggests that the central nervous system (CNS) and mobility are closely linked. CNS-mediated mobility impairment may represent a potentially new and prevalent syndrome within the older adult populations. Interventions targeting this group may have the potential to improve mobility and cognition and prevent disability. Methods: In 2012, the Gerontological Society of America (GSA) and the National Institute on Aging (NIA) sponsored a 3-year conference workshop series, “Aging, the CNS, and Mobility.” The goal of this third and final conference was to (i) report on the state of the science of interventions targeting CNS-mediated mobility impairment among community-dwelling older adults and (ii) partnering with the NIA, explore the future of research and intervention design focused on a potentially novel aging syndrome. Results: Evidence was presented in five main intervention areas: (i) pharmacology and diet; (ii) exercise; (iii) electrical stimulation; (iv) sensory stimulation/deprivation; and (v) a combined category of multimodal interventions. Workshop participants identified important gaps in knowledge and key recommendations for future interventions related to recruitment and sample selection, intervention design, and methods to measure effectiveness. Conclusions: In order to develop effective preventive interventions for this prevalent syndrome, multidisciplinary teams are essential particularly because of the complex nature of the syndrome. Additionally, integrating innovative methods into the design of interventions may help researchers better measure complex mechanisms, and finally, the value of understanding the link between the CNS and mobility should be conveyed to researchers across disciplines in order to incorporate cognitive and mobility measurements into study protocols. PMID:27154905

Measuring participation in children with Gilles de la Tourette syndrome: a pilot study with ICF-CY.

PubMed

Meucci, Paolo; Leonardi, Matilde; Zibordi, Federica; Nardocci, Nardo

2009-01-01

Environmental factors (EF) have an important role on Tourette's symptoms and the same factors can be decisive on the impact that the disease has on people with Tourette syndrome (TS) daily life. The research was carried out by the Neurological Institute Carlo Besta IRCCS Foundation with the principal objective of describing the complete range of functional profiles of children with TS, to define the functioning and the difficulties in social participation. The research protocol was composed of the ICF-CY questionnaire, WHO-DAS II proxy version, the Vineland Adaptive Behavior Scale and the Kidscreen questionnaires - Quality of life (QoL) questionnaires for children and adolescents. The research protocol involved a multidisciplinary team (medical staff, psychologist, pedagogist). The children reported higher QoL's level than the QoL attributed by parents. The Vineland scores reflected considerable difficulties in socialisation. Through the EF analysis, this study highlights the facilitating role of the immediate family and health professionals. Beyond the clinical symptoms, this study points out that the therapeutic elements must be identified by a change of environment, and not only in a child's adaptation ability.

How parents introduce new words to young children: The influence of development and developmental disorders.

PubMed

Adamson, Lauren B; Bakeman, Roger; Brandon, Benjamin

2015-05-01

This study documents how parents weave new words into on-going interactions with children who are just beginning to speak. Dyads with typically developing toddlers and with young children with autism spectrum disorder and Down syndrome (n=56, 23, and 29) were observed using a Communication Play Protocol during which parents could use novel words to refer to novel objects. Parents readily introduced both labels and sound words even when their child did not respond expressively or produce the words. Results highlight both how parents act in ways that may facilitate their child's appreciation of the relation between a new word and its referent and how they subtly adjust their actions to suit their child's level of word learning and specific learning challenges. Copyright © 2015 Elsevier Inc. All rights reserved.

Effectiveness of telerehabilitation programme following surgery in shoulder impingement syndrome (SIS): study protocol for a randomized controlled non-inferiority trial.

PubMed

Pastora-Bernal, Jose-Manuel; Martín-Valero, Rocío; Barón-López, Francisco Javier; García-Gómez, Oscar

2017-02-23

Shoulder pain is common in society, with high prevalence in the general population. Shoulder impingement syndrome (SIS) is the most frequent cause. Patients suffer pain, muscle weakness and loss of movement in the affected joint. Initial treatment is predominantly conservative. The surgical option has high success rates and is often used when conservative strategy fails. Traditional physiotherapy and post-operative exercises are needed for the recovery of joint range, muscle strength, stability and functionality. Telerehabilitation programmes have shown positive results in some orthopaedic conditions after surgery. Customized telerehabilitation intervention programmes should be developed to recover shoulder function after SIS surgery. The objective of this study is to evaluate the feasibility and effectiveness of a telerehabilitation intervention compared with usual care in patients after subacromial decompression surgery. We will compare an intervention group receiving videoconferences and a telerehabilitation programme to a control group receiving traditional physiotherapy intervention in a single-blind, randomized controlled non-inferiority trial study design. Through this study, we will further develop our preliminary data set and practical experience with the telerehabilitation programmes to evaluate their effectiveness and compare this with traditional intervention. We will also explore patient satisfaction and cost-effectiveness. Patient enrolment is ongoing. ClinicalTrials.gov, NCT02909920 . 14 September 2016.

Recipient But Not Donor Adiponectin Polymorphisms Are Associated With Early Posttransplant Hepatic Steatosis in Patients Transplanted for Non-Nonalcoholic Fatty Liver Disease Indications.

PubMed

John, Binu V; Aiken, Taylor; Garber, Ari; Thomas, Dawn; Lopez, Rocio; Patil, Deepa; Konjeti, Venkata Rajesh; Fung, John J; McCollough, Arthur J; Askar, Medhat

2018-06-01

De novo steatosis after liver transplant is common and can occur in up to one-third of patients who are transplanted for liver disease other than for nonalcoholic fatty liver disease. Genetic factors may influence posttransplant steatosis; in a posttransplant setting, donor or recipient genetic factors could also play roles. Genetic polymorphisms in the adiponectin gene have been associated with metabolic syndrome in the pretransplant setting. We aimed to assess the association between donor and recipient adiponectin polymorphisms and early posttransplant hepatic steatosis identified on liver biopsies. Clinical data were collected for 302 liver transplant patients who underwent protocol biopsies for hepatitis C. Of these, 111 patients had available biopsies and donor/recipient DNA. Patients with grade 1 steatosis or greater (35% of patients) were compared with patients without posttransplant steatosis with respect to clinical features and donor/recipient adiponectin polymorphism genotypes. Patients who developed posttransplant steatosis and those without steatosis were similar with respect to individual components of metabolic syndrome. The adiponectin polymorphisms rs1501299 G/G and rs17300539 G/G genotypes in recipients were associated with early posttransplant graft steatosis. We found no associations between graft steatosis and donor adiponectin polymorphisms. Genetic polymorphisms in the adiponectin gene of recipients (but not donors) are associated with early de novo posttransplant hepatic steatosis, independent of components of metabolic syndrome.

Bevacizumab exacerbates sinusoidal obstruction syndrome (SOS) in the animal model and increases MMP 9 production.

PubMed

Jafari, Azin; Matthaei, Hanno; Wehner, Sven; Tonguc, Tolga; Kalff, Jörg C; Manekeller, Steffen

2018-04-24

Thanks to modern multimodal treatment the ouctome of patients with colorectal cancer has experienced significant improvements. As a downside, agent specific side effects have been observed such as sinusoidal obstruction syndrome (SOS) after oxaliplatin chemotherapy (OX). Bevazicumab targeting VEGF is nowadays comprehensively used in combination protocols with OX but its impact on hepatotoxicity is thus far elusive and focus of the present study. After MCT administration 67% of animals developed SOS. GOT serum concentration significantly increased in animals developing SOS ( p < 0.001). Subsequent to MCT administration 100% of animals treated with Anti-VEGF developed SOS. In contrast, animals receiving VEGF developed SOS merely in 40% while increasing the VEGF dose led to a further decrease in SOS development to 25%. MMP 9 concentration in animals developing SOS was significantly higher compared to controls ( p < 0,001). Additional treatment with Anti-VEGF increased the MMP 9 concentration significantly ( p < 0,05). Preservation of liver function is a central goal in both curative and palliative treatment phases of patients with CRC. Thus, knowledge about hepatotoxic side effects of chemotherapeutic and biological agents is crucial. From the results it can be concluded that Anti-VEGF exacerbates SOS paralleled by MMP 9 production. Therefore, OX-Bevacizumab combination therapies should be administered with caution, especially if liver parenchyma damage is apparent. Male Sprague-Dawley rats were gavaged Monocrotaline (MCT) to induce SOS. Recombinant VEGF or an Anti-VEGF antibody was administered to MCT-treated rats and the hepatotoxic effect monitored in defined time intervals. MMP 9 expression in the liver was measured by ELISA.

A Higher-Calorie Refeeding Protocol Does Not Increase Adverse Outcomes in Adult Patients with Eating Disorders.

PubMed

Matthews, Kylie; Hill, Jan; Jeffrey, Shane; Patterson, Susan; Davis, Amanda; Ward, Warren; Palmer, Michelle; Capra, Sandra

2018-04-12

Patients with eating disorders (EDs) are often considered a high-risk population to refeed. Current research advises using "start low, go slow" refeeding methods (∼1,000 kcal/day, advancing ∼500 kcal/day every 3 to 4 days) in adult patients with severe EDs to prevent the development of refeeding syndrome (RFS), typically characterized by decreases in serum electrolyte levels and fluid shifts. To compare the incidence of RFS and related outcomes using a low-calorie protocol (LC) (1,000 kcal) or a higher-calorie protocol (HC) (1,500 kcal) in medically compromised adult patients with EDs. This was a retrospective pre-test-post-test study. One hundred and nineteen participants with EDs, medically admitted to a tertiary hospital in Brisbane, Australia, between December 2010 and January 2017, were included (LC: n=26, HC: n=93). The HC refeeding protocol was implemented in September 2013. Differences in prevalence of electrolyte disturbances, hypoglycemia, edema, and RFS diagnoses were examined. χ 2 tests, Kruskal-Wallis H test, analysis of variance, and independent t tests were used to compare data between the two protocols. Descriptors were similar between groups (LC: 28±9 years, 96% female, 85% with anorexia nervosa, 31% admitted primarily because of clinical symptoms of exacerbated ED vs HC: 27±9 years, 97% female, 84% with anorexia nervosa, 44% admitted primarily because of clinical symptoms of exacerbated ED, P>0.05). Participants refed using the LC protocol had higher incidence rates of hypoglycemia (LC: 31% vs HC: 10%, P=0.012), with no statistical or clinical differences in electrolyte disturbances (LC: 65% vs HC: 45%, P=0.079), edema (LC: 8% vs HC: 6%, P=0.722) or diagnosed RFS (LC: 4% vs HC: 1%, P=0.391). A higher-calorie refeeding protocol appears to be safe, with no differences in rates of electrolyte disturbances or clinically diagnosed RFS and a lower incidence of hypoglycemia. Future research examining higher-calorie intakes, similar to those studied in adolescent patients, may be beneficial. Copyright © 2018 Academy of Nutrition and Dietetics. Published by Elsevier Inc. All rights reserved.

Selenium intake and metabolic syndrome: A systematic review.

PubMed

Retondario, Anabelle; Fernandes, Ricardo; Rockenbach, Gabriele; Alves, Mariane de Almeida; Bricarello, Liliana Paula; Trindade, Erasmo Benicio Santos de Moraes; Vasconcelos, Francisco de Assis Guedes de

2018-03-02

Metabolic syndrome is a multi-causal disease. Its treatment includes lifestyle changes with a focus on weight loss. This systematic review assessed the association between Selenium intake and metabolic syndrome. Data were collected mainly from four databases: PubMed, CENTRAL (Cochrane), Scopus and Web of Knowledge. Keywords related to metabolic syndrome, selenium, as well as metabolic syndrome features were searched. This review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) Statement. A systematic review protocol was registered at PROSPERO (n. 42016046321). Two reviewers independently screened 2957 abstracts. Six studies were included to perform data extraction with standardized spreadsheets. The risk of bias was assessed by using specific tools according to the design of the relevant studies. An assessment was carried out based on the appropriateness of the study reports accordingly to STROBE and the CONSORT-based checklist for each study design. Three studies found no association between Selenium intake and metabolic syndrome; two of them found an inverse association; and one study found a direct association between Selenium intake and metabolic syndrome. One study also showed an inverse association between Selenium intake and the prevalence of high waist circumference, high diastolic blood pressure, and hyperglycaemia in women. Overall, based on the argumentation and results of this study, it is possible to conclude that Selenium intake and metabolic syndrome are not clearly associated in adults and elderly. Copyright © 2018 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.

Finding a better drug for epilepsy: The mTOR pathway as an antiepileptogenic target

PubMed Central

Galanopoulou, Aristea S.; Gorter, Jan A.; Cepeda, Carlos

2012-01-01

Summary The mTOR signaling pathway regulates cell growth, differentiation, proliferation and metabolism. Loss of function mutations in upstream regulators of mTOR have been highly associated with dysplasias, epilepsy and neurodevelopmental disorders. These include tuberous sclerosis, which is due to mutations in TSC1 or TSC2 genes, mutations in phosphatase and tensin homolog (PTEN) as in Cowden syndrome, polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (PMSE) due to mutations in the STE20-related kinase adaptor alpha (STRADalpha), and neurofibromatosis type 1 attributed to neurofibromin 1 mutations. Inhibition of the mTOR pathway with rapamycin may prevent epilepsy and improve the underlying pathology in mouse models with disrupted mTOR signaling, due to PTEN or TSC mutations. However the timing and duration of its administration appear critical in defining the seizure and pathology-related outcomes. Rapamycin application in human cortical slices from patients with cortical dysplasias reduces the 4-aminopyridine induced oscillations. In the multiple-hit model of infantile spasms, pulse high dose rapamycin administration can reduce the cortical overactivation of the mTOR pathway, suppresses spasms and has disease-modifying effects by partially improving cognitive deficits. In post-status epilepticus models of temporal lobe epilepsy, rapamycin may ameliorate the development of epilepsy-related pathology and reduce the expression of spontaneous seizures, but its effects depend on the timing and duration of administration, and possibly the model used. The observed recurrence of seizures and epilepsy-related pathology after rapamycin discontinuation suggests the need for continuous administration to maintain the benefit. However, the use of pulse administration protocols may be useful in certain age-specific epilepsy syndromes, like infantile spasms, whereas repetitive pulse rapamycin protocols may suffice to sustain a long-term benefit in genetic disorders of the mTOR pathway. In summary, mTOR dysregulation has been implicated in several genetic and acquired forms of epileptogenesis. The use of mTOR inhibitors can reverse some of these epileptogenic processes although their effects depend upon the timing and dose of administration as well as the model used. PMID:22578218

Rational design of small-molecule stabilizers of spermine synthase dimer by virtual screening and free energy-based approach.

PubMed

Zhang, Zhe; Martiny, Virginie; Lagorce, David; Ikeguchi, Yoshihiko; Alexov, Emil; Miteva, Maria A

2014-01-01

Snyder-Robinson Syndrome (SRS) is a rare mental retardation disorder which is caused by the malfunctioning of an enzyme, the spermine synthase (SMS), which functions as a homo-dimer. The malfunctioning of SMS in SRS patients is associated with several identified missense mutations that occur away from the active site. This investigation deals with a particular SRS-causing mutation, the G56S mutation, which was shown computationally and experimentally to destabilize the SMS homo-dimer and thus to abolish SMS enzymatic activity. As a proof-of-concept, we explore the possibility to restore the enzymatic activity of the malfunctioning SMS mutant G56S by stabilizing the dimer through small molecule binding at the mutant homo-dimer interface. For this purpose, we designed an in silico protocol that couples virtual screening and a free binding energy-based approach to identify potential small-molecule binders on the destabilized G56S dimer, with the goal to stabilize it and thus to increase SMS G56S mutant activity. The protocol resulted in extensive list of plausible stabilizers, among which we selected and tested 51 compounds experimentally for their capability to increase SMS G56S mutant enzymatic activity. In silico analysis of the experimentally identified stabilizers suggested five distinctive chemical scaffolds. This investigation suggests that druggable pockets exist in the vicinity of the mutation sites at protein-protein interfaces which can be used to alter the disease-causing effects by small molecule binding. The identified chemical scaffolds are drug-like and can serve as original starting points for development of lead molecules to further rescue the disease-causing effects of the Snyder-Robinson syndrome for which no efficient treatment exists up to now.

Routine HIV testing in the context of syndromic management of sexually transmitted infections: outcomes of the first phase of a training programme in Botswana

PubMed Central

Weaver, M R; Myaya, M; Disasi, K; Regoeng, M; Matumo, H N; Madisa, M; Puttkammer, N; Speilberg, F; Kilmarx, P H; Marrazzo, J M

2008-01-01

Objective: In 2004, the Ministry of Health adopted revised protocols for the syndromic management of sexually transmitted infections (STI) that included routine HIV testing. A training programme for providers was developed on the revised protocols that featured interactive case studies and training videos. An objective of the first phase of the training programme was to test its effect on four measures of clinical practice: (1) routine HIV testing; (2) performance of physical examination; (3) risk-reduction counselling and (4) patient education. Methods: Clinical practice in a district where providers were trained was compared with a district without training. The measures of clinical practice were reported by 185 patients of providers who had been trained and compared with reports by 124 patients at comparison clinics. Results: Relative to patients at comparison clinics, a higher percentage of patients of trainees reported that the provider: (1) offered an HIV test (87% versus 29%; p<0.001); (2) conducted a physical examination (98% versus 64%; p<0.001); (3) helped them to make a plan to avoid future STI acquisition (95% versus 76%; p<0.001) and (4) provided patient-specific information about HIV risk (65% versus 32%; p<0.001). Among patients offered HIV testing, the percentage who accepted did not differ between groups (38% of 161 patients of trainees versus 50% of 36 comparison patients; p = 0.260). Overall, 33% of patients of trainees and 14% of comparison patients were tested (p<0.001). Conclusion: A multifaceted training programme was associated with higher rates of HIV testing, physical examination, risk-reduction counselling and better HIV risk education. PMID:18256107

An automated microfluidic DNA microarray platform for genetic variant detection in inherited arrhythmic diseases.

PubMed

Huang, Shu-Hong; Chang, Yu-Shin; Juang, Jyh-Ming Jimmy; Chang, Kai-Wei; Tsai, Mong-Hsun; Lu, Tzu-Pin; Lai, Liang-Chuan; Chuang, Eric Y; Huang, Nien-Tsu

2018-03-12

In this study, we developed an automated microfluidic DNA microarray (AMDM) platform for point mutation detection of genetic variants in inherited arrhythmic diseases. The platform allows for automated and programmable reagent sequencing under precise conditions of hybridization flow and temperature control. It is composed of a commercial microfluidic control system, a microfluidic microarray device, and a temperature control unit. The automated and rapid hybridization process can be performed in the AMDM platform using Cy3 labeled oligonucleotide exons of SCN5A genetic DNA, which produces proteins associated with sodium channels abundant in the heart (cardiac) muscle cells. We then introduce a graphene oxide (GO)-assisted DNA microarray hybridization protocol to enable point mutation detection. In this protocol, a GO solution is added after the staining step to quench dyes bound to single-stranded DNA or non-perfectly matched DNA, which can improve point mutation specificity. As proof-of-concept we extracted the wild-type and mutant of exon 12 and exon 17 of SCN5A genetic DNA from patients with long QT syndrome or Brugada syndrome by touchdown PCR and performed a successful point mutation discrimination in the AMDM platform. Overall, the AMDM platform can greatly reduce laborious and time-consuming hybridization steps and prevent potential contamination. Furthermore, by introducing the reciprocating flow into the microchannel during the hybridization process, the total assay time can be reduced to 3 hours, which is 6 times faster than the conventional DNA microarray. Given the automatic assay operation, shorter assay time, and high point mutation discrimination, we believe that the AMDM platform has potential for low-cost, rapid and sensitive genetic testing in a simple and user-friendly manner, which may benefit gene screening in medical practice.

Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrow.

PubMed Central

Fairbairn, L J; Lashford, L S; Spooncer, E; McDermott, R H; Lebens, G; Arrand, J E; Arrand, J R; Bellantuono, I; Holt, R; Hatton, C E; Cooper, A; Besley, G T; Wraith, J E; Anson, D S; Hopwood, J J; Dexter, T M

1996-01-01

Allogeneic bone marrow transplantation is the most effective treatment for Hurler syndrome but, since this therapy is not available to all patients, we have considered an alternative approach based on transfer and expression of the normal gene in autologous bone marrow. A retroviral vector carrying the full-length cDNA for alpha-L-iduronidase has been constructed and used to transduce bone marrow from patients with this disorder. Various gene-transfer protocols have been assessed including the effect of intensive schedules of exposure of bone marrow to viral supernatant and the influence of growth factors. With these protocols, we have demonstrated successful gene transfer into primitive CD34+ cells and subsequent enzyme expression in their maturing progeny. Also, by using long-term bone marrow cultures, we have demonstrated high levels of enzyme expression sustained for several months. The efficiency of gene transfer has been assessed by PCR analysis of hemopoietic colonies as 25-56%. No advantage has been demonstrated for the addition of growth factors or intensive viral exposure schedules. The enzyme is secreted into the medium and functional localization has been demonstrated by reversal of the phenotypic effects of lysosomal storage in macrophages. This work suggests that retroviral gene transfer into human bone marrow may offer the prospect for gene therapy of Hurler syndrome in young patients without a matched sibling donor. Images Fig. 2 Fig. 4 Fig. 7 Fig. 8 PMID:8700879

Hormonal responses in athletes: the use of a two bout exercise protocol to detect subtle differences in (over)training status.

PubMed

Meeusen, R; Piacentini, M F; Busschaert, B; Buyse, L; De Schutter, G; Stray-Gundersen, J

2004-03-01

In overtrained athletes, several signs and symptoms have been associated with the imbalance between training and recovery. However, reliable diagnostic markers for distinguishing between well-trained, overreached (OR) and overtrained (OT) athletes are lacking. A hallmark feature of overtraining syndrome (OTS) is the inability to sustain intense exercise and recover for the next training or competition session. We therefore devised a test protocol utilizing two bouts of maximal work. With this test protocol we tried to establish a difference in hormonal responses between the training status of T and OR athletes. Seven well-trained cyclists participated in this study and were tested before and after a training camp. We also present the data of one OT motocross athlete who was clinically diagnosed as overtrained. All athletes performed two maximal exercise tests separated by 4 h. Blood was analyzed for cortisol, adrenocorticotrophic hormone (ACTH), growth hormone and prolactin (PRL). Performance decreased by 6% between the first and the second exercise test in the OR group and by 11% in the OT subject. Moreover, during the second exercise test there were more marked differences between the T and OR athletes; in particular, the OT subject did not show an increase in some of the hormonal responses. PRL increased only by 14% in the OT subject's second test and there was a 7% decrease in ACTH. The two exercise approach enables us to detect subtle performance decrements that will not be identified by one exercise trigger. The hormonal responses to the second exercise test were different between the T and OR athletes (the increase in the T group was higher than in the OR that was higher than in the OT). The results of the case presentation of an overtrained athlete provide evidence of an altered and dysfunctional hypothalamic-pituitary axis response to two bouts of maximal exercise. These findings can be used to develop markers for diagnosis of OTS and to begin to address the pathologic mechanism operative in the syndrome, as well as providing an outcome measure to evaluate possible therapeutic regimes.

Hypersensitivity to aspirin and urgent percutaneous coronary intervention: A therapeutic challenge.

PubMed

Duarte, Tatiana; Gonçalves, Sara; Sá, Catarina; Marinheiro, Rita; Rodrigues, Rita; Seixo, Filipe; Tomas, Elza; Caria, Rui

2016-11-01

Hypersensitivity reactions to nonsteroidal anti-inflammatory drugs are common and five types of reactions have been defined. The prevalence of such reactions in patients with myocardial infarction is unclear, and so antiplatelet therapy in this population is a challenge. Various desensitization protocols have been developed but there are no specific guidelines for their use. The authors present the case of a patient with acute coronary syndrome and aspirin hypersensitivity referred for urgent coronary angiography. Aspirin desensitization therapy is safe and successful in many patients, but more randomized trials are needed to confirm its benefits in coronary artery disease patients. Copyright © 2016 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

DIFFERENT PROTOCOLS OF POSTCONDITIONING DOES NOT ATTENUATE MESENTERIC ISCHEMIA-REPERFUSION INJURY AFTER SHORT-TERM REPERFUSION

PubMed Central

BRITO, Marcus Vinicius Henriques; YASOJIMA, Edson Yuzur; MACHADO, Andressa Abnader; SILVEIRA, Matheus Paiva Pacheco Reis; TEIXEIRA, Renan Kleber Costa; YAMAKI, Vitor Nagai; COSTA, Felipe Lobato da Silva

2017-01-01

ABSTRACT Background: Mesenteric ischemia is a challenging diagnosis. Delay in diagnosis can lead to extent bowel necrosis and poor outcomes. Ischemia and reperfusion syndrome plays an important role in this scenario. Aim: To access effects of different post-conditioning cycles on mesenteric ischemia-reperfusion syndrome. Method: Twenty-five rats were assigned into five groups: Sham, used to establish normal parameters; control group, submitted to mesenteric ischemia for 30 min; in groups GP3, GP1 and GP30, ischemia was followed by post-conditioning protocol, which consisted of 1 cycle of 3 min (GP3), 3 cycles of 1 min (GP1) or 6 cycles of 30 s (GP30), respectively. Ileum samples were harvested after one hour of reperfusion. Intestinal mucosal injury was evaluated through histopathological analysis. Results: The average of mesenteric injury degree was 0 in the sham group, 3.6 in the control group, 3.4 in GP3, 3.2 in GP1, and 3.0 in GP30; villous length average was 161.59 in sham group, 136.27 in control group, 135.89 in GP3, 129.46 in GP1, and 135.18 in GP30. Was found significant difference between sham and other groups (p<0.05); however, there was no difference among post-conditioning groups. Conclusion: Post-conditioning adopted protocols were not able to protect intestinal mucosa integrity after mesenteric ischemia and short term reperfusion. PMID:28489164

The Efficacy and Safety of Shen Guo Lao Nian Granule for Common Cold of Qi-Deficiency Syndrome: Study Protocol for a Randomized, Double-Blind, Placebo-Controlled, Multicenter, Phase II Clinical Trial

PubMed Central

Fu, Juanjuan; Ding, Hong; Yang, Haimiao; Huang, Yuhong

2017-01-01

Background Common cold is one of the most frequently occurring illnesses in primary healthcare services and represents considerable disease burden. Common cold of Qi-deficiency syndrome (CCQDS) is an important but less addressed traditional Chinese medicine (TCM) pattern. We designed a protocol to explore the efficacy, safety, and optimal dose of Shen Guo Lao Nian Granule (SGLNG) for treating CCQDS. Methods/Design This is a multicenter, randomized, double-blind, placebo-controlled, phase II clinical trial. A total of 240 eligible patients will be recruited from five centers. Patients are randomly assigned to high-dose group, middle-dose group, low-dose group, or control group in a 1 : 1 : 1 : 1 ratio. All drugs are required to be taken 3 times daily for 5 days with a 5-day follow-up period. Primary outcomes are duration of all symptoms, total score reduction on Jackson's scale, and TCM symptoms scale. Secondary outcomes include every single TCM symptom duration and score reduction, TCM main symptoms disappearance rate, curative effects, and comparison between Jackson's scale and TCM symptom scale. Ethics and Trial Registration This study protocol was approved by the Ethics Committee of Clinical Trials and Biomedicine of West China Hospital of Sichuan University (number IRB-2014-12) and registered with the Chinese Clinical Trial Registry (ChiCTR-IPR-15006349). PMID:29430253

Reduction of central neuropathic pain with ketamine infusion in a patient with Ehlers-Danlos syndrome: a case report.

PubMed

Lo, Tony Chung Tung; Yeung, Stephen Tung; Lee, Sujin; Skavinski, Kira; Liao, Solomon

2016-01-01

Ehlers-Danlos syndrome frequently causes acute and chronic pain because of joint subluxations and dislocations secondary to hypermobility. Current treatments for pain related to Ehlers-Danlos syndrome and central pain syndrome are inadequate. This case report discusses the therapeutic use of ketamine intravenous infusion as an alternative. A 27-year-old Caucasian female with a history of Ehlers-Danlos syndrome and spinal cord ischemic myelopathy resulting in central pain syndrome, presented with severe generalized body pain refractory to multiple pharmacological interventions. After a 7-day course of ketamine intravenous infusion under controlled generalized sedation in the intensive care unit, the patient reported a dramatic reduction in pain levels from 7-8 out of 10 to 0-3 out of 10 on a numeric rating scale and had a significant functional improvement. The patient tolerated a reduction in her pain medication regimen, which originally included opioids, gabapentin, pregabalin, tricyclic antidepressants, and nonsteroidal anti-inflammatory drugs. Ketamine infusion treatment has been used in various pain syndromes, including central neuropathic pain, ischemic pain, and regional pain syndrome. Reports have suggested that ketamine modulates pain by the regression of N-methyl-D-aspartate receptor to a resting state. As such, propagation of nociceptive signal to brain is interrupted allowing for the restoration of physiological balance between pain inhibition and facilitation. The present report shows that this treatment option can be used in patients with refractory central pain syndrome in the setting of spinal cord myelopathy secondary to Ehlers-Danlos syndrome. In addition, as seen in this case, this protocol can potentially decrease the chronic use of pain medication, such as opioids.

Effectiveness of long-term (twelve months) nonsurgical weight loss interventions for obese women with polycystic ovary syndrome: a systematic review.

PubMed

Nicholson, Fiona; Rolland, Catherine; Broom, John; Love, John

2010-11-10

Polycystic ovary syndrome (PCOS) affects 2%-26% of women of reproductive age and is often accompanied by obesity. Modest weight loss reduces health risks and ameliorates effects of the syndrome. Weight loss interventions are mainly of short duration and have limited success. A systematic review of the literature was carried out to assess the efficacy of long-term (12 months), nonsurgical weight loss interventions for women with PCOS. Fifteen databases were searched, resulting in eight papers that met the search criteria. Comparison of results and meta-analysis was difficult due to heterogeneity of studies. Behavioral components of interventions were poorly described, and compliance was difficult to ascertain. The results suggested that the inclusion of a lifestyle component improves outcomes, but protocols must be clearly described to maintain study validity and to identify successful behavioral strategies.

Anti-Hu paraneoplastic brainstem encephalitis caused by a pancreatic neuroendocrine tumor presenting with central hypoventilation.

PubMed

Najjar, Marc; Taylor, Andrew; Agrawal, Surbhi; Fojo, Tito; Merkler, Alexander E; Rosenblum, Marc K; Lennihan, Laura; Kluger, Michael D

2017-06-01

Paraneoplastic neurological syndromes are rare autoimmune manifestations of malignancies associated with specific antibodies. Anti-Hu associated brainstem encephalitis, a well-described syndrome, usually presents subacutely with preferential involvement of the medulla. Anti-Hu antibodies target intraneuronal antigens and are therefore highly correlated with neurological syndromes when present concomitantly with a neoplasm. Reported is a case of anti-Hu brainstem encephalitis associated with a pancreatic neuroendocrine tumor (PNET) presenting with central hypoventilation. This is the first described case of brainstem encephalitis associated with a well-differentiated PNET as well as the first case of Anti-Hu antibodies associated with a PNET. There are no standardized protocols for the treatment of paraneoplastic brainstem encephalitis however, as in the present case, surgical resection and oncological treatment of the tumor is the first line treatment. Copyright © 2017 Elsevier Ltd. All rights reserved.

Computer vision syndrome (CVS) - Thermographic Analysis

NASA Astrophysics Data System (ADS)

Llamosa-Rincón, L. E.; Jaime-Díaz, J. M.; Ruiz-Cardona, D. F.

2017-01-01

The use of computers has reported an exponential growth in the last decades, the possibility of carrying out several tasks for both professional and leisure purposes has contributed to the great acceptance by the users. The consequences and impact of uninterrupted tasks with computers screens or displays on the visual health, have grabbed researcher’s attention. When spending long periods of time in front of a computer screen, human eyes are subjected to great efforts, which in turn triggers a set of symptoms known as Computer Vision Syndrome (CVS). Most common of them are: blurred vision, visual fatigue and Dry Eye Syndrome (DES) due to unappropriate lubrication of ocular surface when blinking decreases. An experimental protocol was de-signed and implemented to perform thermographic studies on healthy human eyes during exposure to dis-plays of computers, with the main purpose of comparing the existing differences in temperature variations of healthy ocular surfaces.

Risk factors, clinical features and outcome of treatment of work related musculoskeletal disorders in on-site clinics among IT companies in India.

PubMed

Sharan, Deepak; Ajeesh, P S; Rameshkumar, R; Jose, Jeena

2012-01-01

Workrelated musculoskeletal disorders among the IT professional is a common area of concern worldwide. This study was taken up to analyze the prevalence of risk factors, clinical features and outcome of treatment in onsite clinics in vaious information technology companies in India. Result revealed poor office ergonomics (54%), lack of keyboard tray (25%), lack of mouse tray (35%), lack of foot rest (60%), improper monitor height (80%) were the major self reported risk factors. Major identified MSD were Myofascial Pain Syndrome (49.20%), Thoracic outlet syndrome (25.02%), Fibromyalgia syndrome (8.5%). Majorly affected body regions were neck (64.9%), shoulder (42.1%), lower back (56.5%) and thigh (34.2%). The results were comparable with the literature. Feedback of the participants also revealed most of the participants were well satisfied with SHARAN's protocol.

Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.

PubMed

Limoge, Floriane; Faivre, Laurence; Gautier, Thomas; Petit, Jean-Michel; Gautier, Elodie; Masson, David; Jego, Gaëtan; El Chehadeh-Djebbar, Salima; Marle, Nathalie; Carmignac, Virginie; Deckert, Valérie; Brindisi, Marie-Claude; Edery, Patrick; Ghoumid, Jamal; Blair, Edward; Lagrost, Laurent; Thauvin-Robinet, Christel; Duplomb, Laurence

2015-12-01

Cohen Syndrome (CS) is a rare autosomal recessive disorder, with defective glycosylation secondary to mutations in the VPS13B gene, which encodes a protein of the Golgi apparatus. Besides congenital neutropenia, retinopathy and intellectual deficiency, CS patients are faced with truncal obesity. Metabolism investigations showed abnormal glucose tolerance tests and low HDL values in some patients, and these could be risk factors for the development of diabetes mellitus and/or cardiovascular complications. To understand the mechanisms involved in CS fat storage, we used two models of adipogenesis differentiation: (i) SGBS pre-adipocytes with VPS13B invalidation thanks to siRNA delivery and (ii) CS primary fibroblasts. In both models, VPS13B invalidation led to accelerated differentiation into fat cells, which was confirmed by the earlier and increased expression of specific adipogenic genes, consequent to the increased response of cells to insulin stimulation. At the end of the differentiation protocol, these fat cells exhibited decreased AKT2 phosphorylation after insulin stimulation, which suggests insulin resistance. This study, in association with the in-depth analysis of the metabolic status of the patients, thus allowed us to recommend appropriate nutritional education to prevent the occurrence of diabetes mellitus and to put forward recommendations for the follow-up of CS patients, in particular with regard to the development of metabolic syndrome. We also suggest replacing the term obesity by abnormal fat distribution in CS, which should reduce the number of inappropriate diagnoses in patients who are referred only on the basis of intellectual deficiency associated with obesity. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Predictive factors of early moderate/severe ovarian hyperstimulation syndrome in non-polycystic ovarian syndrome patients: a statistical model.

PubMed

Ashrafi, Mahnaz; Bahmanabadi, Akram; Akhond, Mohammad Reza; Arabipoor, Arezoo

2015-11-01

To evaluate demographic, medical history and clinical cycle characteristics of infertile non-polycystic ovary syndrome (NPCOS) women with the purpose of investigating their associations with the prevalence of moderate-to-severe OHSS. In this retrospective study, among 7073 in vitro fertilization and/or intracytoplasmic sperm injection (IVF/ICSI) cycles, 86 cases of NPCO patients who developed moderate-to-severe OHSS while being treated with IVF/ICSI cycles were analyzed during the period of January 2008 to December 2010 at Royan Institute. To review the OHSS risk factors, 172 NPCOS patients without developing OHSS, treated at the same period of time, were selected randomly by computer as control group. We used multiple logistic regression in a backward manner to build a prediction model. The regression analysis revealed that the variables, including age [odds ratio (OR) 0.9, confidence interval (CI) 0.81-0.99], antral follicles count (OR 4.3, CI 2.7-6.9), infertility cause (tubal factor, OR 11.5, CI 1.1-51.3), hypothyroidism (OR 3.8, CI 1.5-9.4) and positive history of ovarian surgery (OR 0.2, CI 0.05-0.9) were the most important predictors of OHSS. The regression model had an area under curve of 0.94, presenting an allowable discriminative performance that was equal with two strong predictive variables, including the number of follicles and serum estradiol level on human chorionic gonadotropin day. The predictive regression model based on primary characteristics of NPCOS patients had equal specificity in comparison with two mentioned strong predictive variables. Therefore, it may be beneficial to apply this model before the beginning of ovarian stimulation protocol.

The validity and reliability of the Thai version of the Kujala score for patients with patellofemoral pain syndrome.

PubMed

Apivatgaroon, Adinun; Angthong, Chayanin; Sanguanjit, Prakasit; Chernchujit, Bancha

2016-10-01

To develop a Thai version of the Kujala score and show the evaluation of the validity and reliability of the score. The Thai version of the Kujala score was developed using the forward-backward translation protocol. The 49 PFPS patients answered the Thai version of questionnaires including the Kujala score, Short Form-36 (SF-36) and International Knee Documentation Committee (IKDC) Subjective Knee Form. The validity between the scores has been tested. The reliability was assessed using test-retest reliability and internal consistency. The Thai version of the Kujala score showed a good correlation with Thai IKDC Subjective Knee Form (Pearson's correlation coefficient; r = 0.74: p < 0.01) and moderate correlation with the Thai SF-36 subscales of physical component summary, total score and role physical (r = 0.586, 0.571 and 0.524, respectively: p < 0.01). The test-retest reliability was excellent with an intra-class correlation coefficient of 0.908 (p < 0.001; 95% CI [0.842-0.947]). The internal consistency was strong with Cronbach's alpha of 0.952 (p < 0.001). No floor and ceiling effects were observed. The Thai version of the Kujala score has shown good validity and reliability. This score can be effectively used for evaluating Thai patients with patellofemoral pain syndrome. Implications for Rehabilitation The Kujala score is a self-administered questionnaire for patients with patellofemoral pain syndrome (PFPS). The validity and reliability of the Thai version of Kujala are compatible with other versions (Turkish, Chinese and Persian version). The Thai version of Kujala has been shown to have validity and reliability in Thai PFPS patients and can be used for clinical evaluation and also in the research work.

Nonalcoholic fatty liver disease and polycystic ovary syndrome.

PubMed

Vassilatou, Evangeline

2014-07-14

Nonalcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease in the Western world comprising a spectrum of liver damage from fatty liver infiltration to end-stage liver disease, in patients without significant alcohol consumption. Increased prevalence of NAFLD has been reported in patients with polycystic ovary syndrome (PCOS), one of the most common endocrinopathies in premenopausal women, which has been redefined as a reproductive and metabolic disorder after the recognition of the important role of insulin resistance in the pathophysiology of the syndrome. Obesity, in particular central adiposity and insulin resistance are considered as the main factors related to NAFLD in PCOS. Moreover, existing data support that androgen excess, which is the main feature of PCOS and is interrelated to insulin resistance, may be an additional contributing factor to the development of NAFLD. Although the natural history of NAFLD remains unclear and hepatic steatosis seems to be a relatively benign condition in most patients, limited data imply that advanced stage of liver disease is possibly more frequent in obese PCOS patients with NAFLD. PCOS patients, particularly obese patients with features of the metabolic syndrome, should be submitted to screening for NAFLD comprising assessment of serum aminotransferase levels and of hepatic steatosis by abdominal ultrasound. Lifestyle modifications including diet, weight loss and exercise are the most appropriate initial therapeutic interventions for PCOS patients with NAFLD. When pharmacologic therapy is considered, metformin may be used, although currently there is no medical therapy of proven benefit for NAFLD. Long-term follow up studies are needed to clarify clinical implications and guide appropriate diagnostic evaluation, follow-up protocol and optimal treatment for PCOS patients with NAFLD.

Aging, the Central Nervous System, and Mobility in Older Adults: Interventions.

PubMed

Varma, Vijay R; Hausdorff, Jeffrey M; Studenski, Stephanie A; Rosano, Caterina; Camicioli, Richard; Alexander, Neil B; Chen, Wen G; Lipsitz, Lewis A; Carlson, Michelle C

2016-11-01

Research suggests that the central nervous system (CNS) and mobility are closely linked. CNS-mediated mobility impairment may represent a potentially new and prevalent syndrome within the older adult populations. Interventions targeting this group may have the potential to improve mobility and cognition and prevent disability. In 2012, the Gerontological Society of America (GSA) and the National Institute on Aging (NIA) sponsored a 3-year conference workshop series, "Aging, the CNS, and Mobility." The goal of this third and final conference was to (i) report on the state of the science of interventions targeting CNS-mediated mobility impairment among community-dwelling older adults and (ii) partnering with the NIA, explore the future of research and intervention design focused on a potentially novel aging syndrome. Evidence was presented in five main intervention areas: (i) pharmacology and diet; (ii) exercise; (iii) electrical stimulation; (iv) sensory stimulation/deprivation; and (v) a combined category of multimodal interventions. Workshop participants identified important gaps in knowledge and key recommendations for future interventions related to recruitment and sample selection, intervention design, and methods to measure effectiveness. In order to develop effective preventive interventions for this prevalent syndrome, multidisciplinary teams are essential particularly because of the complex nature of the syndrome. Additionally, integrating innovative methods into the design of interventions may help researchers better measure complex mechanisms, and finally, the value of understanding the link between the CNS and mobility should be conveyed to researchers across disciplines in order to incorporate cognitive and mobility measurements into study protocols. © The Author 2016. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Nonalcoholic fatty liver disease and polycystic ovary syndrome

PubMed Central

Vassilatou, Evangeline

2014-01-01

Nonalcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease in the Western world comprising a spectrum of liver damage from fatty liver infiltration to end-stage liver disease, in patients without significant alcohol consumption. Increased prevalence of NAFLD has been reported in patients with polycystic ovary syndrome (PCOS), one of the most common endocrinopathies in premenopausal women, which has been redefined as a reproductive and metabolic disorder after the recognition of the important role of insulin resistance in the pathophysiology of the syndrome. Obesity, in particular central adiposity and insulin resistance are considered as the main factors related to NAFLD in PCOS. Moreover, existing data support that androgen excess, which is the main feature of PCOS and is interrelated to insulin resistance, may be an additional contributing factor to the development of NAFLD. Although the natural history of NAFLD remains unclear and hepatic steatosis seems to be a relatively benign condition in most patients, limited data imply that advanced stage of liver disease is possibly more frequent in obese PCOS patients with NAFLD. PCOS patients, particularly obese patients with features of the metabolic syndrome, should be submitted to screening for NAFLD comprising assessment of serum aminotransferase levels and of hepatic steatosis by abdominal ultrasound. Lifestyle modifications including diet, weight loss and exercise are the most appropriate initial therapeutic interventions for PCOS patients with NAFLD. When pharmacologic therapy is considered, metformin may be used, although currently there is no medical therapy of proven benefit for NAFLD. Long-term follow up studies are needed to clarify clinical implications and guide appropriate diagnostic evaluation, follow-up protocol and optimal treatment for PCOS patients with NAFLD. PMID:25024594

Prevalence of Fetal Alcohol Syndrome and Maternal Characteristics in a Sample of Schoolchildren from a Rural Province of Croatia

PubMed Central

Petković, Giorgie; Barišić, Ingeborg

2013-01-01

Fetal alcohol syndrome (FAS) is a congenital syndrome caused by maternal alcohol consumption during pregnancy and is entirely preventable by abstinence from alcohol drinking during this time. Little is known about the prevalence of FAS and maternal alcohol consumption during pregnancy in Western countries. We present the results of FAS/partial fetal alcohol syndrome (PFAS) prevalence study and maternal characteristics in a sample of schoolchildren from a rural province of Croatia. This study involved seven elementary schools with 1,110 enrolled children attending 1st to 4th grade and their mothers. We used an active case ascertainment method with passive parental consent and Clarified IOM criteria. The investigation protocol involved maternal data collection and clinical examination of children. Out of 1,110 mothers, 917 (82.6%) answered the questionnaire. Alcohol exposure during pregnancy was admitted by 11.5%, regular drinking by 4.0% and binge drinking by 1.4% of questioned mothers. Clinical examination involved 824 (74.2%) schoolchildren and disclosed 14 (1.7%) with clinical signs of FAS and 41 (5.0%) of PFAS. The observed FAS prevalence, based on 74.2% participation rate, was 16.9, PFAS 49.7 and combined prevalence was 66.7/1,000 examined schoolchildren. This is the first FAS prevalence study based on active ascertainment among schoolchildren and pregnancy alcohol drinking analysis performed in a rural community of Croatia and Europe. High prevalence of FAS/PFAS and pregnancy alcohol consumption observed in this study revealed that FAS is serious health problem in rural regions as well as a need to develop future studies and preventive measures for pregnancy alcohol drinking and FASD. PMID:23591786

Diagnostic Accuracy of Chinese Medicine Diagnosis Scale of Phlegm and Blood Stasis Syndrome in Coronary Heart Disease: A Study Protocol.

PubMed

Liu, Xiao-Qi; Peng, Dan-Hong; Wang, Yan-Ping; Xie, Rong; Chen, Xin-Lin; Yu, Chun-Quan; Li, Xian-Tao

2018-05-03

Phlegm and blood stasis syndrome (PBSS) is one of the main syndromes in coronary heart disease (CHD). Syndromes of Chinese medicine (CM) are lack of quantitative and easyimplementation diagnosis standards. To quantify and standardize the diagnosis of PBSS, scales are usually applied. To evaluate the diagnostic accuracy of CM diagnosis scale of PBSS in CHD. Six hundred patients with stable angina pectoris of CHD, 300 in case group and 300 in control group, will be recruited from 5 hospitals across China. Diagnosis from 2 experts will be considered as the "gold standard". The study design consists of 2 phases: pilot test is used to evaluate the reliability and validity, and diagnostic test is used to assess the diagnostic accuracy of the scale, including sensitivity, specififi city, likelihood ratio and area under the receiver operator characteristic (ROC) curve. This study will evaluate the diagnostic accuracy of CM diagnosis scale of PBSS in CHD. The consensus of 2 experts may not be ideal as a "gold standard", and itself still requires further study. (No. ChiCTR-OOC-15006599).

Cognitive and adaptive behavior profiles in Smith-Magenis syndrome.

PubMed

Madduri, Niru; Peters, Sarika U; Voigt, Robert G; Llorente, Antolin M; Lupski, James R; Potocki, Lorraine

2006-06-01

Smith-Magenis syndrome (SMS) is a multiple congenital anomalies and mental retardation syndrome associated with an interstitial deletion of chromosome 17 band p11.2. The incidence of this microdeletion syndrome is estimated to be 1 in 25,000 individuals. Persons with SMS have a distinctive neurobehavioral phenotype that is characterized by aggressive and self-injurious behaviors and significant sleep disturbances. From December 1990 through September 1999, 58 persons with SMS were enrolled in a 5-day multidisciplinary clinical protocol. Developmental assessments consisting of cognitive level and adaptive behavior were completed in 57 persons. Most patients functioned in the mild-to-moderate range of mental retardation. In addition, we report that patients with SMS have low adaptive functioning with relative strengths in socialization and relative weakness in daily living skills. These data were analyzed in light of the molecular extent of the microdeletion within 17p11.2. We found that the level of cognitive and adaptive functioning does depend on deletion size, and that a small percentage of SMS patients have cognitive function in the borderline range.

Sexually transmitted disease syndromic case management through public sector facilities: development and assessment study in Punjab Pakistan.

PubMed

Khan, Muhammad Amir; Javed, Wajiha; Ahmed, Maqsood; Walley, John; Munir, Muhammad Arif

2014-01-01

Sexually transmitted infections (STIs) are a priority health problem. We proposed a prospective study in two districts of Punjab, using an intervention package, which included guidelines and protocols on syndrome-based management of STIs, adapted in light of technical guidelines from the National AIDS Control Program and the World Health Organization. The aim of this study was to assess the operational effectiveness of STI case management guidelines and to assess factors that determine the adherence to guidelines for management of STIs at public health facilities in Pakistan. A prospective study lasting 18 months (January 2008 to June 2009), which reviewed early implementation experiences of updated case management guidelines for delivery of syndrome-based STI/reproductive tract infection care, through public-sector health care facilities. The project was implemented in two districts of Punjab, Sargodha and Jhang. A Cox regression model with stratification was done. The prevalence of STI was 26 per 100,000 patients. In women, the reported symptoms were 80% vaginal discharge and 12% abdominal pain. Forty-four percent of men had a genital ulcer and 29% of men had genital discharge. Age of participants ranged from 13 to 60 years. The study comprised 28.6% men and 71.4% women. The majority of the population attending these clinics was from rural areas (70%). The variables independently associated with adherence to guidelines were availability of male paramedic, age of patient, and type of diagnosis made. There was an important interaction (effect modification) present between the area of health facility and patient sex. Screening, diagnosis, and treatment costs for many STIs are expensive and thus an easier, low-cost, syndrome-based public health strategy is the adoption of the proposed STI syndrome case management guidelines. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

Is alternate rapid maxillary expansion and constriction an effective protocol in the treatment of Class III malocclusion? A systematic review

PubMed Central

Pithon, Matheus Melo; Santos, Nathalia de Lima; dos Santos, Camila Rangel Barreto; Baião, Felipe Carvalho Souza; Pinheiro, Murilo Costa Rangel; Matos, Manoel; Souza, Ianderlei Andrade; de Paula, Rafael Pereira

2016-01-01

ABSTRACT Introduction: the treatment of Class III malocclusion in early age is one of the greatest challenges for orthodontists, and the establishment of more effective treatment method is a constant concern for these professionals. Thus, the objective of this systematic review is to verify the effectiveness of the therapy protocol for alternate rapid maxillary expansion and constriction (Alt-RAMEC) in the early treatment of Class III malocclusion. Methods: searches were performed in the following electronic databases: Cochrane Library, Medline (EBSCO and PubMed), SciELO, LILACS and Scopus. The following inclusion criteria were used: in vivo studies conducted with early intervention (patient in craniofacial development phase) with the use of the Alt-RAMEC protocol. Reviews, case reports, editorials, and studies with syndromic patients or under use of systemic drug were excluded. Duplicates were also excluded. The studies were assessed for methodological quality using the Cochrane tool for assessment of risk of bias, and classified as high or low risk of bias. Results: 53 articles were found. Duplicates exclusion was thus performed and 35 articles remained. After inclusion analysis, only 5 matched the criteria. Two articles were classified as low risk of bias and three as high risk of bias. It was observed that the Alt-RAMEC enable protraction in less time and with better results, promoting greater effectiveness in the protraction treatment of Class III malocclusion. Conclusions: Although there is positive evidence of the effectiveness of early treatment with the Alt-RAMEC protocol in patients with Class III malocclusion, further studies are needed to confirm its effectiveness using long-term methodology. PMID:28125138

Lasting improvements in left spatial neglect following a protocol combining neck-muscle vibration and voluntary arm movements: a case-study.

PubMed

Ceyte, Hadrien; Beis, Jean-Marie; Simon, Mathilde; Rémy, Ariane; Anxionnat, René; Paysant, Jean; Caudron, Sébastien

2018-01-22

Beyond promising experimental results of sensory passive stimulations in spatial cognition disorders, some questions still remain regarding interests of these stimulations during the daily activities in neglect. The aim of this case-study was to evaluate the effects of a protocol combining left neck-muscle vibration with daily simple movements, like arm pointing movements, on perceptivo-locomotor deficits in a left spatial neglect patient. Two neuropsychological tests, one subjective straight-ahead pointing (SSA) test and one wheelchair navigation test were carried out before the combination protocol, immediately after, 1 h later, and 24 h later. The results showed a reduction of neglect spatial bias following the protocol lasted at least 24 h in all the tests (except for the SSA test due to the unavailability of the pointing device). The range of improvements in the symptoms of spatial neglect suggests that this therapeutic intervention based on the combining neck-muscle vibration to voluntary arm movements could be a useful treatment for this condition. One of future investigation axes should be the development of a vibratory tool in order to facilitate the combining this proprioceptive stimulation to daily activities. Implications for rehabilitation Spatial neglect is a perplexing neuropsychological syndrome, affecting different domains of spatial cognition and impacting also the functional domain. The treatments based on neck-muscle vibration are simple to use, non-invasive and requires none active participation of patient. A therapeutic intervention based on the combining left neck-muscle vibration and voluntary arm movements in a left-spatial-neglect show a lasting reduction of symptoms especially in daily activities. The combination of treatments based on the Bottom-Up approach opens innovative perspectives in rehabilitation.

Evaluation of Cyanea capillata Sting Management Protocols Using Ex Vivo and In Vitro Envenomation Models

PubMed Central

Headlam, Jasmine L.; MacLoughlin, Eoin

2017-01-01

Lion’s mane jellyfish (Cyanea capillata) stings cause severe pain and can lead to dangerous systemic effects, including Irukandji-like syndrome. As is the case for most cnidarian stings, recommended medical protocols in response to such stings lack rigorous scientific support. In this study, we sought to evaluate potential first aid care protocols using previously described envenomation models that allow for direct measurements of venom activity. We found that seawater rinsing, the most commonly recommended method of tentacle removal for this species, induced significant increases in venom delivery, while rinsing with vinegar or Sting No More® Spray did not. Post-sting temperature treatments affected sting severity, with 40 min of hot-pack treatment reducing lysis of sheep’s blood (in agar plates), a direct representation of venom load, by over 90%. Ice pack treatment had no effect on sting severity. These results indicate that sting management protocols for Cyanea need to be revised immediately to discontinue rinsing with seawater and include the use of heat treatment. PMID:28686221

A Cost Analysis of a Pancreatic Cancer Screening Protocol in High-Risk Populations

PubMed Central

Bruenderman, Elizabeth; Martin, Robert CG

2016-01-01

Background Pancreatic cancer is the 4th leading cause of cancer death in the U.S. A screening protocol is needed to catch early stage, resectable disease. This study suggests a protocol for high-risk individuals and assesses the cost in the context of the Affordable Care Act. Methods Medicare and national average pricing were used for cost analysis of a protocol using MRI/MRCP biannually in high-risk groups. Results: ‘ Costs per year of life added’ based on Medicare and national average costs, respectively, are: $638.62 and $2542.37 for Peutz-Jehgers Syndrome, $945.33 and $3763.44 for Hereditary Pancreatitis, $1141.77 and $4545.45 for Familial Pancreatic Cancer and p16-Leiden mutations, and $356.42 and $1418.92 for new-onset diabetes over age 50 with weight loss or smoking. Conclusion A screening program using MRI/MRCP is affordable in high-risk populations. The U.S. Preventive Services Task Force must reevaluate its pancreatic cancer screening guidelines to make screening more cost-effective for the individual. PMID:26003200

Fault-tolerant quantum error detection.

PubMed

Linke, Norbert M; Gutierrez, Mauricio; Landsman, Kevin A; Figgatt, Caroline; Debnath, Shantanu; Brown, Kenneth R; Monroe, Christopher

2017-10-01

Quantum computers will eventually reach a size at which quantum error correction becomes imperative. Quantum information can be protected from qubit imperfections and flawed control operations by encoding a single logical qubit in multiple physical qubits. This redundancy allows the extraction of error syndromes and the subsequent detection or correction of errors without destroying the logical state itself through direct measurement. We show the encoding and syndrome measurement of a fault-tolerantly prepared logical qubit via an error detection protocol on four physical qubits, represented by trapped atomic ions. This demonstrates the robustness of a logical qubit to imperfections in the very operations used to encode it. The advantage persists in the face of large added error rates and experimental calibration errors.

Development of a monoclonal antibody-based flow-through immunoassay (FTA) for detection of white spot syndrome virus (WSSV) in black tiger shrimp Penaeus monodon.

PubMed

Patil, R; Shankar, K M; Kumar, B T N; Kulkarni, A; Patil, P; Moger, N

2013-09-01

A flow-through immunoassay (FTA), an improved version of immunodot, was developed using a nitrocellulose membrane baked onto adsorbent pads enclosed in a plastic cassette to detect white spot syndrome virus (WSSV) in shrimp. Sharp purple dots developed with WSSV against the white background of the nitrocellulose membrane. The detection limits of WSSV by the FTA and immunodot were 0.312 and 1.2 μg mL(-1) crude WSSV protein, respectively. The FTA could be completed in 8-10 min compared with 90 min for immunodot. The FTA was 100 times more sensitive than 1-step polymerase chain reaction (PCR) and in between that of the 1- and 2-step PCR protocol recommended by the Office of International Epizootics (OIE). In experimental, orally infected shrimp post-larvae, WSSV was first detected 14, 16 and 18 h post-infection (hpi) by FTA, immunodot and one-step PCR, respectively. The FTA detected WSSV 2 and 4 h earlier than immunodot and one-step PCR, respectively. The FTA was more sensitive (25/27) than one-step PCR (23/27) and immunodot (23/27) for the detection of WSSV from white spot disease outbreak ponds. The reagent components of the FTA were stable giving expected results for 6 m at 4-8 °C. The FTA is available as a rapid test kit called 'RapiDot' for the early detection of WSSV under field conditions. © 2013 John Wiley & Sons Ltd.

Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations.

PubMed

Trolle, Christian; Mortensen, Kristian H; Pedersen, Lisbeth N; Berglund, Agnethe; Jensen, Henrik K; Andersen, Niels H; Gravholt, Claus H

2013-01-01

QT-interval prolongation of unknown aetiology is common in Turner syndrome. This study set out to explore the presence of known long QT mutations in Turner syndrome and to examine the corrected QT-interval (QTc) over time and relate the findings to the Turner syndrome phenotype. Adult women with Turner syndrome (n = 88) were examined thrice and 68 age-matched healthy controls were examined once. QTc was measured by one blinded reader (intra-reader variability: 0.7%), and adjusted for influence of heart rate by Bazett's (bQTc) and Hodges's formula (hQTc). The prevalence of mutations in genes related to Long QT syndrome was determined in women with Turner syndrome and a QTc >432.0 milliseconds (ms). Echocardiographic assessment of aortic valve morphology, 24-hour blood pressures and blood samples were done. The mean hQTc in women with Turner syndrome (414.0 ± 25.5 ms) compared to controls (390.4 ± 17.8 ms) was prolonged (p<0.001) and did not change over time (416.9 ± 22.6 vs. 415.6 ± 25.5 ms; p =0.4). 45,X karyotype was associated with increased hQTc prolongation compared to other Turner syndrome karyotypes (418.2 ± 24.8 vs. 407.6 ± 25.5 ms; p = 0.055). In women with Turner syndrome and a bQTc >432 ms, 7 had mutations in major Long QT syndrome genes (SCN5A and KCNH2) and one in a minor Long QT syndrome gene (KCNE2). There is a high prevalence of mutations in the major LQTS genes in women with TS and prolonged QTc. It remains to be settled, whether these findings are related to the unexplained excess mortality in Turner women. NCT00624949. https://register.clinicaltrials.gov/prs/app/action/SelectProtocol/sid/S0001FLI/selectaction/View/ts/3/uid/U000099E.

Implementation of an Emergency Department Sepsis Bundle and System Redesign: A Process Improvement Initiative.

PubMed

McColl, Tamara; Gatien, Mathieu; Calder, Lisa; Yadav, Krishan; Tam, Ryan; Ong, Melody; Taljaard, Monica; Stiell, Ian

2017-03-01

In 2008-2009, the Canadian Institute for Health Information reported over 30,000 cases of sepsis hospitalizations in Canada, an increase of almost 4,000 from 2005. Mortality rates from severe sepsis and septic shock continue to remain greater than 30% in Canada and are significantly higher than other critical conditions treated in the emergency department (ED). Our group formed a multidisciplinary sepsis committee, conducted an ED process of care analysis, and developed a quality improvement protocol. The objective of this study was to evaluate the effects of this sepsis management bundle on patient mortality. This before and after study was conducted in two large Canadian tertiary care EDs and included adult patients with suspected severe infection that met at least two systemic inflammatory response syndrome (SIRS) criteria. We studied the implementation of a sepsis bundle including triage flagging, RN medical directive, education campaign, and a modified sepsis protocol. The primary outcomes were 30-day all-cause mortality and sepsis protocol use. We included a total of 167 and 185 patients in the pre- and post-intervention analysis, respectively. Compared to the pre-intervention group, mortality was significantly lower in the post-intervention group (30.7% versus 17.3%; absolute difference, 13.4%; 95% CI 9.8-17.0; p=0.006). There was also a higher rate of sepsis protocol use in the post-intervention group (20.3% versus 80.5%, absolute difference 60.2%; 95% CI 55.1-65.3; p<0.001). Additionally, we found shorter time-intervals from triage to MD assessment, fluid resuscitation, and antibiotic administration as well as lower rates of vasopressor requirements and ICU admission. Interpretation The implementation of our multidisciplinary ED sepsis bundle, including improved early identification and protocolized medical care, was associated with improved time to achieve key therapeutic interventions and a reduction in 30-day mortality. Similar low-cost initiatives could be implemented in other EDs to potentially improve outcomes for this high-risk group of patients.

Changing the facial features of patients with Treacher Collins syndrome: protocol for 3-stage treatment of hard and soft tissue hypoplasia in the upper half of the face.

PubMed

Mitsukawa, Nobuyuki; Saiga, Atsuomi; Satoh, Kaneshige

2014-07-01

Treacher Collins syndrome is a disorder characterized by various congenital soft tissue anomalies involving hypoplasia of the zygoma, maxilla, and mandible. A variety of treatments have been reported to date. These treatments can be classified into 2 major types. The first type involves osteotomy for hard tissue such as the zygoma and mandible. The second type involves plastic surgery using bone grafting in the malar region and soft tissue repair of eyelid deformities. We devised a new treatment to comprehensively correct hard and soft tissue deformities in the upper half of the face of Treacher Collins patients. The aim was to "change facial features and make it difficult to tell that the patients have this disorder." This innovative treatment strategy consists of 3 stages: (1) placement of dermal fat graft from the lower eyelid to the malar subcutaneous area, (2) custom-made synthetic zygomatic bone grafting, and (3) Z-plasty flap transposition from the upper to the lower eyelid and superior repositioning and fixation of the lateral canthal tendon using a Mitek anchor system. This method was used on 4 patients with Treacher Collins syndrome who had moderate to severe hypoplasia of the zygomas and the lower eyelids. Facial features of these patients were markedly improved and very good results were obtained. There were no major complications intraoperatively or postoperatively in any of the patients during the series of treatments. In synthetic bone grafting in the second stage, the implant in some patients was in the way of the infraorbital nerve. Thus, the nerve was detached and then sutured under the microscope. Postoperatively, patients had almost full restoration of sensory nerve torpor within 5 to 6 months. We devised a 3-stage treatment to "change facial features" of patients with hypoplasia of the upper half of the face due to Treacher Collins syndrome. The treatment protocol provided a very effective way to treat deformities of the upper half of the face in patients with Treacher Collins syndrome.

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.

Association of Serum Ferritin Levels with Metabolic Syndrome and Insulin Resistance.

PubMed

Padwal, Meghana K; Murshid, Mohsin; Nirmale, Prachee; Melinkeri, R R

2015-09-01

The impact of CVDs and Type II DM is increasing over the last decade. It has been estimated that by 2025 their incidence will double. Ferritin is one of the key proteins regulating iron homeostasis and is a widely available clinical biomarker of iron status. Some studies suggest that prevalence of atherosclerosis and insulin resistance increases significantly with increasing serum ferritin. Metabolic syndrome is known to be associated with increased risk of atherosclerosis as well as insulin resistance. The present study was designed to explore the association of serum ferritin levels with metabolic syndrome and insulin resistance. The present study was prospective, cross sectional. The study protocol was approved by IEC. The study group consisted of 90 participants (50 cases of metabolic syndrome and 40 age and sex matched controls). Diagnosis of metabolic syndrome was done as per NCEP ATP III criteria. Estimation of serum Ferritin and Insulin was done by Chemiluminescence Immunoassay (CLIA) while Glucose by Glucose Oxidase and Peroxidase (GOD-POD) method. Insulin Resistance was calculated by HOMA IR score. Data obtained was statistically analysed by using student t-test. We found statistically significant rise in the levels of serum ferritin (p=<0.001), glucose (p=<0.001), insulin (p=<0.001) and HOMA IR score (p=<0.0001) in cases of metabolic syndrome as compared with controls. High serum ferritin levels though within normal range are significantly associated with both metabolic syndrome and insulin resistance.

Periodontal disease associated to systemic genetic disorders.

PubMed

Nualart Grollmus, Zacy Carola; Morales Chávez, Mariana Carolina; Silvestre Donat, Francisco Javier

2007-05-01

A number of systemic disorders increase patient susceptibility to periodontal disease, which moreover evolves more rapidly and more aggressively. The underlying factors are mainly related to alterations in immune, endocrine and connective tissue status. These alterations are associated with different pathologies and syndromes that generate periodontal disease either as a primary manifestation or by aggravating a pre-existing condition attributable to local factors. This is where the role of bacterial plaque is subject to debate. In the presence of qualitative or quantitative cellular immune alterations, periodontal disease may manifest early on a severe localized or generalized basis--in some cases related to the presence of plaque and/or specific bacteria (severe congenital neutropenia or infantile genetic agranulocytosis, Chediak-Higiashi syndrome, Down syndrome and Papillon-Lefévre syndrome). In the presence of humoral immune alterations, periodontal damage may result indirectly as a consequence of alterations in other systems. In connective tissue disorders, bacterial plaque and alterations of the periodontal tissues increase patient susceptibility to gingival inflammation and alveolar resorption (Marfan syndrome and Ehler-Danlos syndrome). The management of periodontal disease focuses on the control of infection and bacterial plaque by means of mechanical and chemical methods. Periodontal surgery and even extraction of the most seriously affected teeth have also been suggested. There are variable degrees of consensus regarding the background systemic disorder, as in the case of Chediak-Higiashi syndrome, where antibiotic treatment proves ineffective; in severe congenital neutropenia or infantile genetic agranulocytosis, where antibiotic prophylaxis is suggested; and in Papillon-Lefévre syndrome, where an established treatment protocol is available.

Study protocol--metabolic syndrome, vitamin D and bone status in South Asian women living in Auckland, New Zealand: a randomised, placebo-controlled, double-blind vitamin D intervention.

PubMed

von Hurst, Pamela R; Stonehouse, Welma; Matthys, Christophe; Conlon, Cathryn; Kruger, Marlena C; Coad, Jane

2008-07-31

The identification of the vitamin D receptor in the endocrine pancreas suggests a role for vitamin D in insulin secretion. There is also some limited evidence that vitamin D influences insulin resistance, and thus the early stages of the development of type 2 diabetes. Eighty-four women of South Asian origin, living in Auckland, New Zealand, were randomised to receive either a supplement (4000IU 25(OH)D3 per day) or a placebo for 6 months. At baseline, all participants were vitamin D deficient (serum 25(OH)D3 <50 nmol/L), insulin resistant (HOMA-IR > 1.93) and/or hyperinsulinaemic, hyperglycemic or had clinical signs of dislipidaemia. Changes in HOMA-IR, lipids, parathyroid hormone, calcium and bone markers were monitored at 3 months and 6 months. This randomised, controlled trial will be the first to investigate the effect of vitamin D supplementation on insulin resistance in non-diabetic subjects. It will subsequently contribute to the growing body of evidence about the role of vitamin D in metabolic syndrome. Registered clinical. Registered clinical trial--Registration No. ACTRN12607000642482.

The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome.

PubMed

Duffy, Kelly A; Deardorff, Matthew A; Kalish, Jennifer M

2017-03-01

Beckwith-Wiedemann syndrome (BWS) is one of the most common cancer predisposition disorders. As a result, BWS patients receive tumor screening as part of their clinical management. Until recently, this screening has been employed uniformly across all genetic and epigenetic causes of BWS, including the utilization of ultrasonography to detect abdominal tumors and alpha-fetoprotein (AFP) to detect hepatoblastoma. The advancements in our understanding of the genetics and epigenetics leading to BWS has evolved over time, and has led to the development of genotype/phenotype correlations. As tumor risk appears to correlate with genetic and epigenetic causes of BWS, several groups have proposed alterations to tumor screening protocols based on the etiology of BWS, with the elimination of AFP as a screening measure and the elimination of all screening measures in BWS patients with loss of methylation at the KCNQ1OT1:TSS-DMR 2 (IC2). There are many challenges to this suggestion, as IC2 patients may have additional factors that contribute to risk of hepatoblastoma including fetal growth patterns, relationship with assisted reproductive technologies, and the regulation of the IC2 locus. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Study Protocol – Metabolic syndrome, vitamin D and bone status in South Asian women living in Auckland, New Zealand: A randomised, placebo-controlled, double-blind vitamin D intervention

PubMed Central

von Hurst, Pamela R; Stonehouse, Welma; Matthys, Christophe; Conlon, Cathryn; Kruger, Marlena C; Coad, Jane

2008-01-01

Background The identification of the vitamin D receptor in the endocrine pancreas suggests a role for vitamin D in insulin secretion. There is also some limited evidence that vitamin D influences insulin resistance, and thus the early stages of the development of type 2 diabetes. Methods Eighty-four women of South Asian origin, living in Auckland, New Zealand, were randomised to receive either a supplement (4000IU 25(OH)D3 per day) or a placebo for 6 months. At baseline, all participants were vitamin D deficient (serum 25(OH)D3 <50 nmol/L), insulin resistant (HOMA-IR > 1.93) and/or hyperinsulinaemic, hyperglycemic or had clinical signs of dislipidaemia. Changes in HOMA-IR, lipids, parathyroid hormone, calcium and bone markers were monitored at 3 months and 6 months. Discussion This randomised, controlled trial will be the first to investigate the effect of vitamin D supplementation on insulin resistance in non-diabetic subjects. It will subsequently contribute to the growing body of evidence about the role of vitamin D in metabolic syndrome.Registered clinical. Trial registration Registered clinical trial – Registration No. ACTRN12607000642482 PMID:18667086

Hippocampal Dysfunction in Gulf War Veterans: Investigation with ASL Perfusion MR Imaging and Physostigmine Challenge

PubMed Central

Li, Xiufeng; Spence, Jeffrey S.; Buhner, David M.; Hart, John; Cullum, C. Munro; Biggs, Melanie M.; Hester, Andrea L.; Odegard, Timothy N.; Carmack, Patrick S.; Haley, Robert W.

2011-01-01

Purpose: To determine, with arterial spin labeling (ASL) perfusion magnetic resonance (MR) imaging and physostigmine challenge, if abnormal hippocampal blood flow in ill Gulf War veterans persists 11 years after initial testing with single photon emission computed tomography and nearly 20 years after the 1991 Gulf War. Materials and Methods: The local institutional review board approved this HIPAA-compliant study. Veterans were screened for contraindications and gave written informed consent before the study. In a semiblinded retrospective protocol, veterans in three Gulf War illness groups—syndrome 1 (impaired cognition), syndrome 2 (confusion-ataxia), and syndrome 3 (central neuropathic pain)—and a control group received intravenous infusions of saline in an initial session and physostigmine in a second session, 48 hours later. Each infusion was followed by measurement of hippocampal regional cerebral blood flow (rCBF) with pulsed ASL. A mixed-effects linear model adjusted for age was used to test for differences in rCBF after the cholinergic challenge across the four groups. Results: Physostigmine significantly decreased hippocampal rCBF in control subjects (P < .0005) and veterans with syndrome 1 (P < .05) but significantly increased hippocampal rCBF in veterans with syndrome 2 (P < .005) and veterans with syndrome 3 (P < .002). The abnormal increase in rCBF was found to have progressed to the left hippocampus of the veterans with syndrome 2 and to both hippocampi of the veterans with syndrome 3. Conclusion: Chronic hippocampal perfusion dysfunction persists or worsens in veterans with certain Gulf War syndromes. ASL MR imaging examination of hippocampal rCBF in a cholinergic challenge experiment may be useful as a diagnostic test for this condition. © RSNA, 2011 Supplemental material: http://radiology.rsna.org/lookup/suppl/doi:10.1148/radiol.11101715/-/DC1 PMID:21914840

Variations on cardiovascular risk factors in metabolic syndrome after consume of a citrus-based juice.

PubMed

Mulero, Juana; Bernabé, Juana; Cerdá, Begoña; García-Viguera, Cristina; Moreno, Diego A; Albaladejo, Maria Dolores; Avilés, Francisco; Parra, Soledad; Abellán, José; Zafrilla, Pilar

2012-06-01

Inflammation and oxidative stress plays a critical role in cardiovascular disease and metabolic syndrome often occurs with these two variables. The aim of the study is to estimate variations on cardiovascular risk factors in Metabolic Syndrome patients after consume of a citrus-based juice compared with control groups. The study comprised 20 healthy subjects and 33 patients with Metabolic Syndrome. 18 patients consume daily 300 mL of a citrus-based juice during 6 month and 15 patients consume 300 mL of a placebo beverage. The control group consumes a citrus-based juice. Before, at fourth month and at sixth month after treatment the following parameters were determined: lipid profile, oxidized LDL, C-Reactive Protein and Homocysteine. The study was carried out in accordance with the Helsinki Declaration, and the Ethical Committee of the San Antonio Catholic University and approved the protocol (6 November 2006, register number: 1424). After six months of citrus-based juice consuming, there is significant differences at 95% confidence in oxidized LDL, C-Reactive Protein, and Homocysteine in Metabolic Syndrome patients who consume citrus-based juice. We have not found significant differences in other groups. Consume of citrus-based juice improve lipid profile and inflammation markers in Metabolic Syndrome patients. Copyright © 2011 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.

Bevacizumab exacerbates sinusoidal obstruction syndrome (SOS) in the animal model and increases MMP 9 production

PubMed Central

Jafari, Azin; Matthaei, Hanno; Wehner, Sven; Tonguc, Tolga; Kalff, Jörg C.; Manekeller, Steffen

2018-01-01

Background Thanks to modern multimodal treatment the ouctome of patients with colorectal cancer has experienced significant improvements. As a downside, agent specific side effects have been observed such as sinusoidal obstruction syndrome (SOS) after oxaliplatin chemotherapy (OX). Bevazicumab targeting VEGF is nowadays comprehensively used in combination protocols with OX but its impact on hepatotoxicity is thus far elusive and focus of the present study. Results After MCT administration 67% of animals developed SOS. GOT serum concentration significantly increased in animals developing SOS (p < 0.001). Subsequent to MCT administration 100% of animals treated with Anti-VEGF developed SOS. In contrast, animals receiving VEGF developed SOS merely in 40% while increasing the VEGF dose led to a further decrease in SOS development to 25%. MMP 9 concentration in animals developing SOS was significantly higher compared to controls (p < 0,001). Additional treatment with Anti-VEGF increased the MMP 9 concentration significantly (p < 0,05). Conclusions Preservation of liver function is a central goal in both curative and palliative treatment phases of patients with CRC. Thus, knowledge about hepatotoxic side effects of chemotherapeutic and biological agents is crucial. From the results it can be concluded that Anti-VEGF exacerbates SOS paralleled by MMP 9 production. Therefore, OX-Bevacizumab combination therapies should be administered with caution, especially if liver parenchyma damage is apparent. Methods Male Sprague-Dawley rats were gavaged Monocrotaline (MCT) to induce SOS. Recombinant VEGF or an Anti-VEGF antibody was administered to MCT-treated rats and the hepatotoxic effect monitored in defined time intervals. MMP 9 expression in the liver was measured by ELISA. PMID:29774103

Evaluation of the appropriate use of a CIWA-Ar alcohol withdrawal protocol in the general hospital setting.

PubMed

Eloma, Amanda S; Tucciarone, Jason M; Hayes, Edmund M; Bronson, Brian D

2018-01-01

The Clinical Institute Withdrawal Assessment-Alcohol, Revised (CIWA-Ar) is an assessment tool used to quantify alcohol withdrawal syndrome (AWS) severity and inform benzodiazepine treatment for alcohol withdrawal. To evaluate the prescribing patterns and appropriate use of the CIWA-Ar protocol in a general hospital setting, as determined by the presence or absence of documented AWS risk factors, patients' ability to communicate, and provider awareness of the CIWA-Ar order. This retrospective chart review included 118 encounters of hospitalized patients placed on a CIWA-Ar protocol during one year. The following data were collected for each encounter: patient demographics, admitting diagnosis, ability to communicate, and admission blood alcohol level; and medical specialty of the clinician ordering CIWA-Ar, documentation of the presence or absence of established AWS risk factors, specific parameters of the protocol ordered, service admitted to, provider documentation of awareness of the active protocol within 48 h of initial order, total benzodiazepine dose equivalents administered and associated adverse events. 57% of patients who started on a CIWA-Ar protocol had either zero or one documented risk factor for AWS (19% and 38% respectively). 20% had no documentation of recent alcohol use. 14% were unable to communicate. 19% of medical records lacked documentation of provider awareness of the ordered protocol. Benzodiazepine associated adverse events were documented in 15% of encounters. The judicious use of CIWA-Ar protocols in general hospitals requires mechanisms to ensure assessment of validated alcohol withdrawal risk factors, exclusion of patients who cannot communicate, and continuity of care during transitions.

Low-dose intravenous immunoglobulin treatment for complex regional pain syndrome (LIPS): study protocol for a randomized controlled trial.

PubMed

Goebel, Andreas; Shenker, Nicholas; Padfield, Nick; Shoukrey, Karim; McCabe, Candida; Serpell, Mick; Sanders, Mark; Murphy, Caroline; Ejibe, Amaka; Milligan, Holly; Kelly, Joanna; Ambler, Gareth

2014-10-24

Longstanding complex regional pain syndrome (CRPS) is refractory to treatment with established analgesic drugs in most cases, and for many patients, alternative pain treatment approaches, such as with neuromodulation devices or rehabilitation methods, also do not work. The development of novel, effective treatment technologies is, therefore, important. There are preliminary data suggesting that low-dose immunoglobulin treatment may significantly reduce pain from longstanding CRPS. LIPS is a multicentre (United Kingdom), double-blind, randomised parallel group, placebo-controlled trial, designed to evaluate the efficacy, safety, and tolerability of intravenous immunoglobulin (IVIg) 0.5 g/kg plus standard treatment, versus matched placebo plus standard treatment in 108 patients with longstanding complex regional pain syndrome. Participants with moderate or severe CRPS of between 1 and 5 years duration will be randomly allocated to receive IVIg 0.5 g/kg (IntratectTM 50 g/l solution for infusion) or matching placebo administered day 1 and day 22 after randomisation, followed by two optional doses of open-label medication on day 43 after randomisation and on day 64 after randomisation. The primary outcome is the patients' pain intensity in the IVIG group compared with the placebo group, between 6 and 42 days after randomisation. The primary trial objective is to confirm the efficacy and confidently determine the effect size of the IVIG treatment technology in this group of patients. ISRCTN42179756 (Registered 28 June 13).

Preservation of renal function in atypical hemolytic uremic syndrome by eculizumab: a case report.

PubMed

Giordano, Mario; Castellano, Giuseppe; Messina, Giovanni; Divella, Claretta; Bellantuono, Rosa; Puteo, Flora; Colella, Vincenzo; Depalo, Tommaso; Gesualdo, Loreto

2012-11-01

Genetic mutations in complement components are associated with the development of atypical hemolytic uremic syndrome (aHUS), a rare disease with high morbidity rate triggered by infections or unidentified factors. The uncontrolled activation of the alternative pathway of complement results in systemic endothelial damage leading to progressive development of renal failure. A previously healthy 8-month-old boy was referred to our hospital because of onset of fever, vomiting, and a single episode of nonbloody diarrhea. Acute kidney injury with preserved diuresis, hemolytic anemia, and thrombocytopenia were detected, and common protocols for management of HUS were followed without considerable improvement. The persistent low levels of complement component C3 led us to hypothesize the occurrence of aHUS. In fact, the child carried a specific mutation in complement factor H (Cfh; nonsense mutation in 3514G>T, serum levels of Cfh 138 mg/L, normal range 350-750). Given the lack of response to therapy and the occurrence of kidney failure requiring dialysis, we used eculizumab as rescue therapy, a monoclonal humanized antibody against the complement component C5. One week from the first administration, we observed a significant improvement of all clinical and laboratory parameters with complete recovery from hemodialysis, even in the presence of systemic infections. Our case report shows that complement inhibiting treatment allows the preservation of renal function and avoids disease relapses during systemic infections.

Infectivity of severe acute respiratory syndrome during its incubation period.

PubMed

Zeng, Guang; Xie, Shu-Yun; Li, Qin; Ou, Jian-Ming

2009-12-01

To evaluate the infectivity of severe acute respiratory syndrome (SARS) during its incubation period by investigating chains of transmission and individuals isolated for medical observation with a view to providing scientific evidence for updating protocols of medical isolation. Individuals related with the two SARS chains of transmission in Beijing in 2003 and a group of individuals isolated for medical observation in Haidian district of Beijing during the SARS outbreak were selected as subjects of study. Contactors with SARS patients and those with symptom development following the contacts were investigated via questionnaire. Serum samples were collected from super transmitters and tested for SARS-CoV antibody by neutralization test and enzyme linked immunosorbent assay (ELISA). A total of 1112 contactors were investigated in three surveys. Of them, 669 had a history of close contact with symptomatic SARS patients, 101 developed symptoms with a rate of 15.1%, 363 had a history of close contact with patients in their incubation period, none of whom developed symptoms (0%). Serum samples were collected from 32 highly-exposed individuals, of whom 13 developing SARS symptoms after contact had serum samples positive for SARS-CoV antibody. Samples collected from the asymptomatic contactors were all negative for SARS-CoV antibody. SARS cases are infectious only during their symptomatic period and are non-infectious during the incubation period. Isolation for medical observation should be placed for individuals who are in close contact with symptomatic SARS patients. The results of our study are of decisive significance for the Ministry of Health to the definition of SARS close contactor.

Effectiveness of sequential automatic-manual home respiratory polygraphy scoring.

PubMed

Masa, Juan F; Corral, Jaime; Pereira, Ricardo; Duran-Cantolla, Joaquin; Cabello, Marta; Hernández-Blasco, Luis; Monasterio, Carmen; Alonso-Fernandez, Alberto; Chiner, Eusebi; Vázquez-Polo, Francisco-José; Montserrat, Jose M

2013-04-01

Automatic home respiratory polygraphy (HRP) scoring functions can potentially confirm the diagnosis of sleep apnoea-hypopnoea syndrome (SAHS) (obviating technician scoring) in a substantial number of patients. The result would have important management and cost implications. The aim of this study was to determine the diagnostic cost-effectiveness of a sequential HRP scoring protocol (automatic and then manual for residual cases) compared with manual HRP scoring, and with in-hospital polysomnography. We included suspected SAHS patients in a multicentre study and assigned them to home and hospital protocols at random. We constructed receiver operating characteristic (ROC) curves for manual and automatic scoring. Diagnostic agreement for several cut-off points was explored and costs for two equally effective alternatives were calculated. Of 366 randomised patients, 348 completed the protocol. Manual scoring produced better ROC curves than automatic scoring. There was no sensitive automatic or subsequent manual HRP apnoea-hypopnoea index (AHI) cut-off point. The specific cut-off points for automatic and subsequent manual HRP scorings (AHI >25 and >20, respectively) had a specificity of 93% for automatic and 94% for manual scorings. The costs of manual protocol were 9% higher than sequential HRP protocol; these were 69% and 64%, respectively, of the cost of the polysomnography. A sequential HRP scoring protocol is a cost-effective alternative to polysomnography, although with limited cost savings compared to HRP manual scoring.

Comparison of the efficacy of rosuvastatin versus atorvastatin in reducing apolipoprotein B/apolipoprotein A-1 ratio in patients with acute coronary syndrome: results of the CENTAURUS study.

PubMed

Lablanche, Jean-Marc; Leone, Attilio; Merkely, Bela; Morais, João; Alonso, Joaquim; Santini, Massimo; Eha, Jaan; Demil, Nacima; Licour, Muriel; Tardif, Jean-Claude

2010-03-01

The mechanism underlying statin-induced event reduction in patients with acute coronary syndrome remains unclear. To assess the efficacy of rosuvastatin 20mg versus atorvastatin 80 mg in reducing the apolipoprotein B/apolipoprotein A-1 (apoB/apoA-1) ratio at 3 months. Non-inferiority of rosuvastatin 20mg versus atorvastatin 80 mg in reducing low-density lipoprotein cholesterol at 1 and 3 months was also assessed. Patients with non-ST-elevation acute coronary syndrome were enrolled into this randomized, double blind, parallel-group trial. In total, 753 patients (369, rosuvastatin 20mg; 384, atorvastatin 80 mg) were included in the intention-to-treat analysis; 478 patients (226, rosuvastatin 20mg; 252, atorvastatin 80 mg) were included in the per-protocol analysis. Rosuvastatin 20mg was more effective than atorvastatin 80 mg in decreasing apoB/apoA-1 ratio at 1 month (-44.4% vs -42.9%, p=0.02) but not at 3 months (both -44.4%, p=0.87). Low-density lipoprotein cholesterol decreased by approximately 50% after 1 and 3 months in both groups. Non-inferiority of rosuvastatin 20mg versus atorvastatin 80 mg was demonstrated at 1 month (difference, -0.3% [95% confidence interval, -2.7; +2.1]), but not at 3 months (+1.0% [-1.6; 3.5]) (intention-to-treat analysis). In the per-protocol analysis, non-inferiority of rosuvastatin 20mg was demonstrated at both 1 (-0.7% [-3.5; 2.0]) and 3 (-0.5% [-3.5; 2.5]) months. In patients with non-ST-elevation acute coronary syndrome, rosuvastatin 20mg decreased apoB/apoA-1 ratio at 1 month more than atorvastatin 80 mg. No difference could be shown at 3 months; thus, the primary endpoint was not met.

Nationwide trends in use and timeliness of diagnostic coronary angiography in acute coronary syndromes from 2005 to 2011: Does distance to invasive heart centres matter?

PubMed

Hansen, Kim W; Sørensen, Rikke; Madsen, Mette; Madsen, Jan K; Jensen, Jan S; von Kappelgaard, Lene M; Mortensen, Poul E; Galatius, Søren

2015-08-01

To examine trends in the use of diagnostic coronary angiography according to distance from home to the nearest invasive heart centre following implementation of fast-track protocols and extensive pre-hospital triaging of acute coronary syndrome patients. We performed a register-based cohort study of all patients admitted to Danish hospitals with incident acute coronary syndrome in 2005-2011. Diagnostic coronary angiography within 60 days of admission was investigated according to distance tertiles (DTs) calculated as range from each patient's home to the nearest invasive heart centre (short DT: <22 km, medium DT: 22-65 km, long DT: >65 km). Cox proportional hazards models were applied.Among the 52,409 patients included, diagnostic coronary angiography was increasingly used during 2005-2011 (short DT: 76% to 81%; medium DT: 74% to 81%; long DT: 69% to 78%; all p-values for trend <0.001). Using the short DT as reference the adjusted hazard ratios for medium DT were 0.87 (0.84-0.89) for 2005-2007, 0.94 (0.90-0.98) for 2008-2009 and 0.94 (0.90-0.98) for 2010-2011. Corresponding figures for long DT were 0.74 (0.72-0.76) for 2005-2007, 0.87 (0.83-0.90) for 2008-2009 and 0.94 (0.90-0.98) for 2010-2011. Length of hospital stay, time to coronary angiography, and 60-day mortality decreased in all DT. This nationwide study found significant increases in diagnostic coronary angiography use over time in incident acute coronary syndrome patients with a relatively larger increase in patients residing farthest from an invasive heart centre. Additionally, selected quality of care measures improved in the entire cohort, suggesting a benefit of national clinical protocols. © The European Society of Cardiology 2014.

[Peripheral vertigo versus central vertigo. Application of the HINTS protocol].

PubMed

Batuecas-Caletrío, Ángel; Yáñez-González, Raquel; Sánchez-Blanco, Carmen; González-Sánchez, Enrique; Benito, José; Gómez, José Carlos; Santa Cruz-Ruiz, Santiago

2014-10-16

One of the most important dilemmas concerning vertigo in emergency departments is its differential diagnosis. There are highly sensitive warning signs in the examination that can put us on the path towards finding ourselves before a case of central vertigo. To determine how effective the application of the HINTS protocol is in the diagnosis of cerebrovascular accidents that mimics peripheral vertigo. We conducted a descriptive observation-based study on patients admitted to hospital with a diagnosis of acute vestibular syndrome in the emergency department. All the patients were monitored on a day-to-day basis until their symptoms improved, with information about nystagmus, the oculocephalic manoeuvre and the skew test. The results from the magnetic resonance imaging study were compared with the alteration of any of those three signs during the time the patient was hospitalised. Altogether 91 patients were examined, with a mean age of 55.8 years. A cerebrovascular accident was observed in eight cases. Of these (mean age: 71 years), in seven of them there were alterations in some of the HINTS signs, and in one case the study was normal (sensitivity: 0.88; specificity: 0.96). All of them had some vascular risk factor. Faced with a patient who visits the emergency department with an acute vestibular syndrome, a suitably directed examination is essential to be able to establish the differential diagnosis between peripheral and central pathology, since some cerebrovascular accidents can present with the appearance of acute vertigo. Applying a protocol like HINTS makes it possible to suspect the central pathology with a high degree of sensitivity and specificity.

Cognitive behaviour therapy for chronic fatigue syndrome: Differences in treatment outcome between a tertiary treatment centre in the United Kingdom and the Netherlands.

PubMed

Worm-Smeitink, M; Nikolaus, S; Goldsmith, K; Wiborg, J; Ali, S; Knoop, H; Chalder, T

2016-08-01

Cognitive behaviour therapy (CBT) reduces fatigue and disability in chronic fatigue syndrome (CFS). However, outcomes vary between studies, possibly because of differences in patient characteristics, treatment protocols, diagnostic criteria and outcome measures. The objective was to compare outcomes after CBT in tertiary treatment centres in the Netherlands (NL) and the United Kingdom (UK), using different treatment protocols but identical outcome measures, while controlling for differences in patient characteristics and diagnostic criteria. Consecutively referred CFS patients who received CBT were included (NL: n=293, UK: n=163). Uncontrolled effect sizes for improvement in fatigue (Chalder Fatigue Questionnaire), physical functioning (SF-36 physical functioning subscale) and social functioning (Work and Social Adjustment Scale) were compared. Multiple regression analysis was used to examine whether patient differences explained outcome differences between centres. Effect sizes differed between centres for fatigue (Cohen's D NL=1.74, 95% CI=1.52-1.95; UK=0.99, CI=0.73-1.25), physical functioning (NL=0.99, CI=0.81-1.18; UK=0.33, CI=0.08-0.58) and social functioning (NL=1.47, CI=1.26-1.69; UK=0.61, CI=0.35-0.86). Patients in the UK had worse physical functioning at baseline and there were minor demographic differences. These could not explain differences in centre outcome. Effectiveness of CBT differed between treatment centres. Differences in treatment protocols may explain this and should be investigated to help further improve outcomes. Copyright © 2016 Elsevier Inc. All rights reserved.

Guideline for the diagnosis, treatment and response criteria for Bing-Neel syndrome

PubMed Central

Minnema, Monique C.; Kimby, Eva; D’Sa, Shirley; Fornecker, Luc-Matthieu; Poulain, Stéphanie; Snijders, Tom J.; Kastritis, Efstathios; Kremer, Stéphane; Fitsiori, Aikaterini; Simon, Laurence; Davi, Frédéric; Lunn, Michael; Castillo, Jorge J.; Patterson, Christopher J.; Le Garff-Tavernier, Magali; Costopoulos, Myrto; Leblond, Véronique; Kersten, Marie-José; Dimopoulos, Meletios A.; Treon, Steven P.

2017-01-01

Bing Neel syndrome is a rare disease manifestation of Waldenström’s macroglobulinemia that results from infiltration of the central nervous system by malignant lymphoplasmacytic cells. In this guideline we describe the clinical symptoms, as well as the appropriate laboratory and radiological studies, that can aid in the diagnosis. The presentation of Bing Neel syndrome may be very diverse, and includes headaches, cognitive deficits, paresis, and psychiatric symptoms. The syndrome can present in patients with known Waldenström’s macroglobulinemia, even in the absence of systemic progression, but also in previously undiagnosed patients. Diagnostic work-up should include cerebral spinal fluid analysis with multiparameter flow cytometry to establish B-cell clonality, protein electrophoresis and immunofixation for the detection and classification of a monoclonal protein as well as molecular diagnostic testing for immunoglobulin gene rearrangement and mutated MYD88. MRI of the brain and spinal cord is also essential. The second challenge is to expand our knowledge of prognosis and treatment outcome. Prospective clinical trials on Bing Neel syndrome patients that employ uniform treatment along with appropriate laboratory cerebral spinal fluid assessments and standardized MRI protocols will be invaluable, constituting a significant step forward in delineating treatment outcome for this intriguing disease manifestation. PMID:27758817

Aerobic exercise acutely prevents the endothelial dysfunction induced by mental stress among subjects with metabolic syndrome: the role of shear rate.

PubMed

Sales, Allan R K; Fernandes, Igor A; Rocha, Natália G; Costa, Lucas S; Rocha, Helena N M; Mattos, João D M; Vianna, Lauro C; Silva, Bruno M; Nóbrega, Antonio C L

2014-04-01

Mental stress induces transient endothelial dysfunction, which is an important finding for subjects at cardiometabolic risk. Thus, we tested whether aerobic exercise prevents this dysfunction among subjects with metabolic syndrome (MetS) and whether an increase in shear rate during exercise plays a role in this phenomenon. Subjects with MetS participated in two protocols. In protocol 1 (n = 16), endothelial function was assessed using brachial artery flow-mediated dilation (FMD). Subjects then underwent a mental stress test followed by either 40 min of leg cycling or rest across two randomized sessions. FMD was assessed again at 30 and 60 min after exercise or rest, with a second mental stress test in between. Mental stress reduced FMD at 30 and 60 min after the rest session (baseline: 7.7 ± 0.4%, 30 min: 5.4 ± 0.5%, and 60 min: 3.9 ± 0.5%, P < 0.05 vs. baseline), whereas exercise prevented this reduction (baseline: 7.5 ± 0.4%, 30 min: 7.2 ± 0.7%, and 60 min: 8.7 ± 0.8%, P > 0.05 vs. baseline). Protocol 2 (n = 5) was similar to protocol 1 except that the first period of mental stress was followed by either exercise in which the brachial artery shear rate was attenuated via forearm cuff inflation or exercise without a cuff. Noncuffed exercise prevented the reduction in FMD (baseline: 7.5 ± 0.7%, 30 min: 7.0 ± 0.7%, and 60 min: 8.7 ± 0.8%, P > 0.05 vs. baseline), whereas cuffed exercise failed to prevent this reduction (baseline: 7.5 ± 0.6%, 30 min: 5.4 ± 0.8%, and 60 min: 4.1 ± 0.9%, P < 0.05 vs. baseline). In conclusion, exercise prevented mental stress-induced endothelial dysfunction among subjects with MetS, and an increase in shear rate during exercise mediated this effect.

Streamlining the Change-Over Protocol for the RPA Mission Intelligence Coordinator by way of Situation Awareness Oriented Design and Discrete Event Simulation

DTIC Science & Technology

2012-03-01

this list adding “out-of-the-loop syndrome ”, mode awareness problems, and vigilance decrements to the SA challenges faced by RPA crews. 18...Systems, Man, and Cybernetics, vol. 19, no. 3, May/June. Ouma, J., Chappelle, W., & Salinas, A. (2011) “Faces of occupational burnout among U.S

The management of anovulatory infertility in women with polycystic ovary syndrome: an analysis of the evidence to support the development of global WHO guidance.

PubMed

Balen, Adam H; Morley, Lara C; Misso, Marie; Franks, Stephen; Legro, Richard S; Wijeyaratne, Chandrika N; Stener-Victorin, Elisabet; Fauser, Bart C J M; Norman, Robert J; Teede, Helena

2016-11-01

Here we describe the consensus guideline methodology, summarise the evidence-based recommendations we provided to the World Health Organisation (WHO) for their consideration in the development of global guidance and present a narrative review on the management of anovulatory infertility in women with polycystic ovary syndrome (PCOS). The aim of this paper was to present an evidence base for the management of anovulatory PCOS. The evidence to support providing recommendations involved a collaborative process for: (i) identification of priority questions and critical outcomes, (ii) retrieval of up-to-date evidence and exiting guidelines, (iii) assessment and synthesis of the evidence and (iv) the formulation of draft recommendations to be used for reaching consensus with a wide range of global stakeholders. For each draft recommendation, the methodologist evaluated the quality of the supporting evidence that was then graded as very low, low, moderate or high for consideration during consensus. Evidence was synthesized and we made recommendations across the definition of PCOS including hyperandrogenism, menstrual cycle regulation and ovarian assessment. Metabolic features and the impact of ethnicity were covered. Management includes lifestyle changes, bariatric surgery, pharmacotherapy (including clomiphene citrate (CC), aromatase inhibitors, metformin and gonadotropins), as well as laparoscopic surgery. In-vitro fertilization (IVF) was considered as were the risks of ovulation induction and of pregnancy in PCOS. Approximately 80% of women who suffer from anovulatory infertility have PCOS. Lifestyle intervention is recommended first in women who are obese largely on the basis of general health benefits. Bariatric surgery can be considered where the body mass index (BMI) is ≥35 kg/m 2 and lifestyle therapy has failed. Carefully conducted and monitored pharmacological ovulation induction can achieve good cumulative pregnancy rates and multiple pregnancy rates can be minimized with adherence to recommended protocols. CC should be first-line pharmacotherapy for ovulation induction and letrozole can also be used as first-line therapy. Metformin alone has limited benefits in improving live birth rates. Gonadotropins and laparoscopic surgery can be used as second-line treatment. There is no clear evidence for efficacy of acupuncture or herbal mixtures in women with PCOS. For women with PCOS who fail lifestyle and ovulation induction therapy or have additional infertility factors, IVF can be used with the safer gonadotropin releasing hormone (GnRH) antagonist protocol. If a GnRH-agonist protocol is used, metformin as an adjunct may reduce the risk of ovarian hyperstimulation syndrome. Patients should be informed of the potential side effects of ovulation induction agents and of IVF on the foetus, and of the risks of multiple pregnancy. Increased risks for the mother during pregnancy and for the child, including the exacerbating impact of obesity on adverse outcomes, should also be discussed. This guidance generation and evidence-synthesis analysis has been conducted in a manner to be considered for global applicability for the safe administration of ovulation induction for anovulatory women with PCOS. © The Author 2016. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

[Dandy-walker syndrome and microdeletions on chromosome 7].

PubMed

Liao, Can; Fu, Fang; Li, Ru; Pan, Min; Yang, Xin; Yi, Cui-xing; Li, Jian; Li, Dong-zhi

2012-02-01

To investigate genetic etiology of Dandy-Walker syndrome with array-based comparative genomic hybridization (array-CGH). Eight fetuses with Dandy-Walker malformations but normal karyotypes by conventional cytogenetic technique were selected. DNA samples were extracted and hybridized with Affymetrix cytogenetic 2.7 M arrays by following the manufacturer's standard protocol. The data were analyzed by special software packages. By using array-CGH technique, common deletions and duplication on chromosome 7p21.3 were identified in three cases, within which were central nervous system disease associated genes NDUFA4 and PHF14. Copy number variations (CNVs) of chromosome 7p21.3 region are associated with Dandy-Walker malformations which may be due to haploinsufficiency or overexpression of NDUFA4 and PHF14 genes.

Fault-tolerant quantum error detection

PubMed Central

Linke, Norbert M.; Gutierrez, Mauricio; Landsman, Kevin A.; Figgatt, Caroline; Debnath, Shantanu; Brown, Kenneth R.; Monroe, Christopher

2017-01-01

Quantum computers will eventually reach a size at which quantum error correction becomes imperative. Quantum information can be protected from qubit imperfections and flawed control operations by encoding a single logical qubit in multiple physical qubits. This redundancy allows the extraction of error syndromes and the subsequent detection or correction of errors without destroying the logical state itself through direct measurement. We show the encoding and syndrome measurement of a fault-tolerantly prepared logical qubit via an error detection protocol on four physical qubits, represented by trapped atomic ions. This demonstrates the robustness of a logical qubit to imperfections in the very operations used to encode it. The advantage persists in the face of large added error rates and experimental calibration errors. PMID:29062889

Hypoplastic left heart syndrome - a review of supportive percutaneous treatment.

PubMed

Moszura, Tomasz; Góreczny, Sebastian; Dryżek, Paweł

2014-01-01

Due to the complex anatomical and haemodynamic consequences of hypoplastic left heart syndrome (HLHS), patients with the condition require multistage surgical and supportive interventional treatment. Percutaneous interventions may be required between each stage of surgical palliation, sometimes simultaneously with surgery as hybrid interventions, or after completion of multistage treatment. Recent advances in the field of interventional cardiology, including new devices and techniques, have significantly contributed to improving results of multistage HLHS palliation. Knowledge of the potential interventional options as well as the limitation of percutaneous interventions will enable the creation of safe and effective treatment protocols in this highly challenging group of patients. In this comprehensive review we discuss the types, goals, and potential complications of transcatheter interventions in patients with HLHS.

Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome.

PubMed

Hao, Shaojuan; Jin, Lei; Wang, Huijun; Li, Chenlong; Zheng, Fengyun; Ma, Duan; Zhang, Tianyu

2016-09-01

Treacher Collins syndrome is an autosomal dominant craniofacial malformation mainly caused by mutations in the TCOF1 gene. Few cases have been observed in the Chinese population. Herein, the authors report the mutational analysis of TCOF1, GSC, and HOXA2 to determine the mutational features of the 3 genes in Chinese patients with Treacher Collins syndrome. Genomic DNA of the patients and their parents was extracted from peripheral blood following a standard protocol. DNA sequencing analysis was performed on all exons and the exon-intron borders of TCOF1, GSC, and HOXA2 in addition to the 1200-bp upstream of TCOF1. Four novel single nucleotide polymorphisms were detected in TCOF1, one of which was in the promoter region. Mutations in GSC and HOXA2 were not found in the 3 patients. Our results suggest the possibility of genetic heterogeneity or different mechanisms leading to the disease. Further functional study of the alteration is necessary to obtain more definitive information.

Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome

PubMed Central

Hao, Shaojuan; Jin, Lei; Wang, Huijun; Li, Chenlong; Zheng, Fengyun; Ma, Duan; Zhang, Tianyu

2016-01-01

Abstract Treacher Collins syndrome is an autosomal dominant craniofacial malformation mainly caused by mutations in the TCOF1 gene. Few cases have been observed in the Chinese population. Herein, the authors report the mutational analysis of TCOF1, GSC, and HOXA2 to determine the mutational features of the 3 genes in Chinese patients with Treacher Collins syndrome. Genomic DNA of the patients and their parents was extracted from peripheral blood following a standard protocol. DNA sequencing analysis was performed on all exons and the exon-intron borders of TCOF1, GSC, and HOXA2 in addition to the 1200-bp upstream of TCOF1. Four novel single nucleotide polymorphisms were detected in TCOF1, one of which was in the promoter region. Mutations in GSC and HOXA2 were not found in the 3 patients. Our results suggest the possibility of genetic heterogeneity or different mechanisms leading to the disease. Further functional study of the alteration is necessary to obtain more definitive information. PMID:27526242

Descending pain modulation in irritable bowel syndrome (IBS): a systematic review and meta-analysis.

PubMed

Chakiath, Rosemary J; Siddall, Philip J; Kellow, John E; Hush, Julia M; Jones, Mike P; Marcuzzi, Anna; Wrigley, Paul J

2015-12-10

Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder. While abdominal pain is a dominant symptom of IBS, many sufferers also report widespread hypersensitivity and present with other chronic pain conditions. The presence of widespread hypersensitivity and extra-intestinal pain conditions suggests central nervous dysfunction. While central nervous system dysfunction may involve the spinal cord (central sensitisation) and brain, this review will focus on one brain mechanism, descending pain modulation. We will conduct a comprehensive search for the articles indexed in the databases Ovid MEDLINE, Ovid Embase, Ovid PsycINFO and Cochrane Central Register of Controlled Trial (CENTRAL) from their inception to August 2015, that report on any aspect of descending pain modulation in irritable bowel syndrome. Two independent reviewers will screen studies for eligibility, assess risk of bias and extract relevant data. Results will be tabulated and, if possible, a meta-analysis will be carried out. The systematic review outlined in this protocol aims to summarise current knowledge regarding descending pain modulation in IBS. PROSPERO CRD42015024284.

[Quality of oocytes and embryos from women with polycystic ovaries syndrome: State of the art].

PubMed

Fournier, A; Torre, A; Delaroche, L; Gala, A; Mullet, T; Ferrières, A; Hamamah, S

The frequency of polycystic ovary syndrome (PCOS) and the consequent fertility disorders cause many difficulties in the management of the assisted reproductive technics. Some studies are focused on different additional treatments, stimulation protocols or techniques that could optimize the in vitro fertilization cycles. The quality of the oocytes and embryos of these patients is also an outstanding issue. They remain difficult to actually evaluate during management, and none of the few published studies on this subject demonstrated any inferiority, compared to control patients. However, many differences have been highlighted, studying intra- and extra-ovarian factors. The advent of new genetic techniques could allow a better understanding of the pathophysiological mechanisms of the syndrome, as well as refining the evaluation of oocytes and embryos, in order to better predict the results of in vitro fertilization attempts. Pregnancy and birth rates, however, appear to be comparable to those of the general population. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Effect of berberine on insulin resistance in women with polycystic ovary syndrome: study protocol for a randomized multicenter controlled trial.

PubMed

Li, Yan; Ma, Hongli; Zhang, Yuehui; Kuang, Hongying; Ng, Ernest Hung Yu; Hou, Lihui; Wu, Xiaoke

2013-07-18

Insulin resistance and hyperinsulinemia play a key role in the pathogenesis of polycystic ovary syndrome (PCOS), which is characterized by hyperandrogenism, ovulatory dysfunction, and presence of polycystic ovaries on pelvic scanning. Insulin resistance is significantly associated with the long-term risks of metabolic syndrome and cardiovascular disease. Berberine has effects on insulin resistance but its use in women with PCOS has not been fully investigated. In this paper, we present a research design evaluating the effects of berberine on insulin resistance in women with PCOS. This is a multicenter, randomized, placebo-controlled and double-blind trial. A total of 120 patients will be enrolled in this study and will be randomized into two groups. Berberine or placebo will be taken orally for 12 weeks. The primary outcome is the whole body insulin action assessed with the hyperinsulinemic-euglycemic clamp. We postulate that women with PCOS will have improved insulin resistance following berberine administration. This study is registered at ClinicalTrials.gov, NCT01138930.

Antithrombotic therapy in anticoagulated patients with atrial fibrillation presenting with acute coronary syndromes and/or undergoing percutaneous coronary intervention/stenting.

PubMed

Wrigley, Benjamin J; Tapp, Luke D; Shantsila, Eduard; Lip, Gregory Yh

2010-07-01

The management of antithrombotic therapy in atrial fibrillation patients presenting with acute coronary syndrome and/or undergoing percutaneous coronary inter vention/stenting cannot be done according to a regimented common protocol, and stroke and bleeding risk stratification schema should be employed to individualize treatment options. A delicate balance is needed between the prevention of thromboembolism, against recurrent cardiac ischemia or stent thrombosis, and bleeding risk. New guidance from a consensus document of the European Society of Cardiology Working Group on Thrombosis, endorsed by the European Heart Rhythm Association and the European Association of Percutaneous Cardiovascular Interventions on the management of Antithrombotic Therapy in Atrial Fibrillation Patients Presenting with Acute Coronary Syndrome and/or Undergoing Percutaneous Coronary Intervention/Stenting has sought to clarify some of the major issues and problems surrounding this practice, and will allow clinicians to make much more informed decisions when faced with treating such patients.

Integrating next-generation sequencing and traditional tongue diagnosis to determine tongue coating microbiome

PubMed Central

Jiang, Bai; Liang, Xujun; Chen, Yang; Ma, Tao; Liu, Liyang; Li, Junfeng; Jiang, Rui; Chen, Ting; Zhang, Xuegong; Li, Shao

2012-01-01

Tongue diagnosis is a unique method in traditional Chinese medicine (TCM). This is the first investigation on the association between traditional tongue diagnosis and the tongue coating microbiome using next-generation sequencing. The study included 19 gastritis patients with a typical white-greasy or yellow-dense tongue coating corresponding to TCM Cold or Hot Syndrome respectively, as well as eight healthy volunteers. An Illumina paired-end, double-barcode 16S rRNA sequencing protocol was designed to profile the tongue-coating microbiome, from which approximately 3.7 million V6 tags for each sample were obtained. We identified 123 and 258 species-level OTUs that were enriched in patients with Cold/Hot Syndromes, respectively, representing "Cold Microbiota" and "Hot Microbiota". We further constructed the tongue microbiota-imbalanced networks associated with Cold/Hot Syndromes. The results reveal an important connection between the tongue-coating microbiome and traditional tongue diagnosis, and illustrate the potential of the tongue-coating microbiome as a novel holistic biomarker for characterizing patient subtypes. PMID:23226834

BLUE-protocol and FALLS-protocol: two applications of lung ultrasound in the critically ill.

PubMed

Lichtenstein, Daniel A

2015-06-01

This review article describes two protocols adapted from lung ultrasound: the bedside lung ultrasound in emergency (BLUE)-protocol for the immediate diagnosis of acute respiratory failure and the fluid administration limited by lung sonography (FALLS)-protocol for the management of acute circulatory failure. These applications require the mastery of 10 signs indicating normal lung surface (bat sign, lung sliding, A-lines), pleural effusions (quad and sinusoid sign), lung consolidations (fractal and tissue-like sign), interstitial syndrome (lung rockets), and pneumothorax (stratosphere sign and the lung point). These signs have been assessed in adults, with diagnostic accuracies ranging from 90% to 100%, allowing consideration of ultrasound as a reasonable bedside gold standard. In the BLUE-protocol, profiles have been designed for the main diseases (pneumonia, congestive heart failure, COPD, asthma, pulmonary embolism, pneumothorax), with an accuracy > 90%. In the FALLS-protocol, the change from A-lines to lung rockets appears at a threshold of 18 mm Hg of pulmonary artery occlusion pressure, providing a direct biomarker of clinical volemia. The FALLS-protocol sequentially rules out obstructive, then cardiogenic, then hypovolemic shock for expediting the diagnosis of distributive (usually septic) shock. These applications can be done using simple grayscale machines and one microconvex probe suitable for the whole body. Lung ultrasound is a multifaceted tool also useful for decreasing radiation doses (of interest in neonates where the lung signatures are similar to those in adults), from ARDS to trauma management, and from ICUs to points of care. If done in suitable centers, training is the least of the limitations for making use of this kind of visual medicine.

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.

Transdermal testosterone replacement therapy in men

PubMed Central

Ullah, M Iftekhar; Riche, Daniel M; Koch, Christian A

2014-01-01

Androgen deficiency syndrome in men is a frequently diagnosed condition associated with clinical symptoms including fatigue, decreased libido, erectile dysfunction, and metabolic syndrome. Serum testosterone concentrations decline steadily with age. The prevalence of androgen deficiency syndrome in men varies depending on the age group, known and unknown comorbidities, and the respective study group. Reported prevalence rates may be underestimated, as not every man with symptoms of androgen deficiency seeks treatment. Additionally, men reporting symptoms of androgen deficiency may not be correctly diagnosed due to the vagueness of the symptom quality. The treatment of androgen deficiency syndrome or male hypogonadism may sometimes be difficult due to various reasons. There is no consensus as to when to start treating a respective man or with regards to the best treatment option for an individual patient. There is also lack of familiarity with treatment options among general practitioners. The formulations currently available on the market are generally expensive and dose adjustment protocols for each differ. All these factors add to the complexity of testosterone replacement therapy. In this article we will discuss the general indications of transdermal testosterone replacement therapy, available formulations, dosage, application sites, and recommended titration schedule. PMID:24470750

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

Cushing’s Syndrome with Concurrent Diabetes Mellitus in a Rhesus Monkey

DTIC Science & Technology

1999-05-01

adverse effects ( 10). Feldman et al. evaluated ketoconazole in over 50 dogs with spontaneous hyperadrenocorticism due to Cushing’s disease and...choice to control the hypercortisolism. The monkey bas shown remarkable improvement with the dual therapies of insulin and ketoconazole . Approximately 2...months after the initiation of ketoconazole therapy, the animal wu returned to an experimental protocol under the conditions of twi~ treatment and

Genetic Manipulation of Streptococcus pyogenes (The Group A Streptococcus, GAS)

PubMed Central

Le Breton, Yoann; McIver, Kevin S.

2013-01-01

Streptococcus pyogenes (the group A streptococcus, GAS) is a Gram-positive bacterium responsible for a wide spectrum of diseases ranging from mild superficial infections (pharyngitis, impetigo) to severe often life-threatening invasive diseases (necrotizing fasciitis, streptococcal toxic shock syndrome) in humans. This unit describes molecular techniques for the genetic manipulation of S. pyogenes with detailed protocols for transformation, gene disruption, allelic exchange, transposon mutagenesis, and genetic complementation. PMID:24510894

Exercise and reproductive function in polycystic ovary syndrome: protocol of a systematic review.

PubMed

Dos Santos, Isis Kelly; de Lima Nunes, Romilson; Soares, Gustavo Mafaldo; de Oliveira Maranhão, Tecia Maria; Dantas, Paulo Moreira Silva

2017-12-22

Although many post-participation outcomes in different types of physical training (e.g., aerobic and strength) have been previously investigated for the treatment of polycystic ovary syndrome, there is no recent systematic review of the relationship between various types of intervention and the reproductive function of women with PCOS. The current paper describes a systematic review protocol on the benefits of physical exercise and dietary or drug interventions on endocrinological outcomes in women with PCOS. PubMed/MEDLINE, Science Direct, Bireme, Scopus, Web of Science, ProQuest, Cochrane Library (Cochrane Systematic Reviews Database, Cochrane Central Register of Controlled Studies (CENTRAL) databases will be searched. Studies randomized controlled trials reporting on intervening changes in exercise interventions with or without interventions compared such as diet, medication and acupuncture on the menstrual cycle, and fertility in women with PCOS will be included. Results will be on the decrease of the characteristics of hyperandrogenism, insulin resistance, and obesity. Studies published since 2010 and in the English language will be included. This systematic review will identify improvement strategies and types of interventions that are geared toward improving endocrine and consequently metabolic parameters. Thus, the use of such strategies may increase the types of low-cost non-drug therapies that aid in the treatment of PCOS. PROSPERO CRD42017058869.

Time required to initiate outbreak and pandemic observational research.

PubMed

Rishu, Asgar H; Marinoff, Nicole; Julien, Lisa; Dumitrascu, Mariana; Marten, Nicole; Eggertson, Shauna; Willems, Su; Ruddell, Stacy; Lane, Dan; Light, Bruce; Stelfox, Henry T; Jouvet, Philippe; Hall, Richard; Reynolds, Steven; Daneman, Nick; Fowler, Robert A

2017-08-01

Observational research focused upon emerging infectious diseases such as Ebola virus, Middle East respiratory syndrome, and Zika virus has been challenging to quickly initiate. We aimed to determine the duration of start-up procedures and barriers encountered for an observational study focused upon such infectious outbreaks. At 1 pediatric and 5 adult intensive care units, we measured durations from protocol receipt to a variety of outbreak research milestones, including research ethics board (REB) approval, data sharing agreement (DSA) execution, and patient study screening initiation. The median (interquartile range) time from site receipt of the protocol to REB submission was 73 (30-126) days; to REB approval, 158 (42-188) days; to DSA completion, 276 (186-312) days; and to study screening initiation, 293 (269-391) days. The median time from REB submission to REB approval was 43 (13-85) days. The median time for all start-up procedures was 335 (188-335) days. There is a lengthy start-up period required for outbreak-focused research. Completing DSAs was the most time-consuming step. A reactive approach to newly emerging threats such as Ebola virus, Middle East respiratory syndrome, and Zika virus will likely not allow sufficient time to initiate research before most outbreaks are advanced. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

A lifestyle intervention supported by mobile health technologies to improve the cardiometabolic risk profile of individuals at risk for cardiovascular disease and type 2 diabetes: study rationale and protocol.

PubMed

Stuckey, Melanie I; Shapiro, Sheree; Gill, Dawn P; Petrella, Robert J

2013-11-07

Metabolic syndrome is a cluster of cardiovascular risk factors that greatly increase the risk of developing cardiovascular disease and type 2 diabetes. Regular exercise improves the risk profile, but most people do not successfully change their exercise habits to beneficially reduce risk. Tailored exercise prescribed by a family physician has shown promise as a means to increase fitness and reduce cardiometabolic risk, but optimal implementation practices remain unknown. Mobile health technologies have proved to be a beneficial tool to achieve blood pressure and blood glucose control in patients with diabetes. These technologies may address the limited access to health interventions in rural and remote regions. However, the potential as a tool to support exercise-based prevention activities is not well understood. This study was undertaken to investigate the effects of a tailored exercise prescription alone or supported by mobile health technologies to improve metabolic syndrome and related cardiometabolic risk factors in rural community-dwelling adults at risk for cardiovascular disease and type 2 diabetes. Adults (n = 149) with at least two metabolic syndrome risk factors were recruited from rural communities and randomized to either: 1) an intervention group receiving an exercise prescription and devices for monitoring of risk factors with a smartphone data portal equipped with a mobile health application; or 2) an active control group receiving only an exercise prescription. All participants reported to the research centre at baseline, and at 12-, 24- and 52-week follow-up visits for measurement of anthropometrics and blood pressure and for a blood draw to test blood-borne markers of cardiometabolic health. Vascular and autonomic function were examined. Fitness was assessed and exercise prescribed according to the Step Test and Exercise Prescription protocol. This study tested the effects of a prescriptive exercise intervention alone, versus one supported by mobile health technology on cardiometabolic risk factors. The intervention was designed to be translated into clinical or community-based programming. Results will contribute to the current literature by investigating the utility of mobile health technology support for exercise prescription interventions to improve cardiometabolic risk status and maintain improvements over time; particularly in rural communities. NCT01944124.

The Rockefeller University Navigation Program: A Structured Multidisciplinary Protocol Development and Educational Program to Advance Translational Research

PubMed Central

Kost, Rhonda G.; Dowd, Kathleen A.; Hurley, Arlene M.; Rainer, Tyler‐Lauren; Coller, Barry S.

2014-01-01

Abstract The development of translational clinical research protocols is complex. To assist investigators, we developed a structured supportive guidance process (Navigation) to expedite protocol development to the standards of good clinical practice (GCP), focusing on research ethics and integrity. Navigation consists of experienced research coordinators leading investigators through a concerted multistep protocol development process from concept initiation to submission of the final protocol. To assess the effectiveness of Navigation, we collect data on the experience of investigators, the intensity of support required for protocol development, IRB review outcomes, and protocol start and completion dates. One hundred forty‐four protocols underwent Navigation and achieved IRB approval since the program began in 2007, including 37 led by trainee investigators, 26 led by MDs, 9 by MD/PhDs, 57 by PhDs, and 12 by investigators with other credentials (e.g., RN, MPH). In every year, more than 50% of Navigated protocols were approved by the IRB within 30 days. For trainees who had more than one protocol navigated, the intensity of Navigation support required decreased over time. Navigation can increase access to translational studies for basic scientists, facilitate GCP training for investigators, and accelerate development and approval of protocols of high ethical and scientific quality. PMID:24405608

Persian Registry Of cardioVascular diseasE (PROVE): Design and methodology.

PubMed

Givi, Mahshid; Sarrafzadegan, Nizal; Garakyaraghi, Mohammad; Yadegarfar, Ghasem; Sadeghi, Masoumeh; Khosravi, Alireza; Azhari, Amir Hossein; Samienasab, Mohammad Reza; Shafie, Davood; Saadatnia, Mohammad; Roohafza, Hamidreza; Paydari, Navid; Soleimani, Azam; Hosseinzadeh, Mohsen; Ahmadi, Seyed Abdulah; Dehghani, Leila; Najafian, Jamshid; Andalib, Elham; Shahabi, Javad; Sabri, Mohammad Reza

2017-09-01

Our aim was to create and establish a database called "Persian Registry Of cardioVascular diseasE (PROVE)" in order to be used for future research and in addition, as a tool to develop national guidelines for diagnosis, treatment, and prevention of cardiovascular disease (CVD). In this paper, the design and methodology of the PROVE pilot study will be discussed, launched in Isfahan, Iran, in 2015-2016. Through establishing PROVE, patients' data were collected from hospitals and outpatient clinics prospectively or retrospectively and followed up for a maximum of three years based on the type of CVDs. The inclusion criteria were as patients with acute coronary syndrome (ACS), ST elevation myocardial infarction (STEMI), stroke, atrial fibrillation (AF), heart failure (HF), congenital heart disease (CHD), percutaneous coronary intervention (PCI), and chronic ischemic cardiovascular disease (CICD). Specific protocols, questionnaires, and glossaries were developed for each registry. In order to ensure the validation of the protocols, questionnaires, data collection, management, and analysis, a well-established quality control (QC) protocol was developed and implemented. Data confidentiality was considered. In order to register patients with ACS, STEMI, stroke, HF, PCI, and CICD, the hospital recorded data were used, whereas, in case of AF and CHD registries, the data were collected from hospitals and outpatient clinics. During the pilot phase of the study in Isfahan, from March 2015 to September 2016, 9427 patients were registered as ACS including 809 as STEMI, 1195 patients with HF, 363 with AF, 761 with stroke, 1136 with CHD, 1200 with PCI, and 9 with CICD. Data collection and management were performed under the supervision of the QC group. PROVE was developed and implemented in Isfahan as a pilot study, in order to be implemented at national level in future. It provides a valuable source of valid data that could be used for future research, re-evaluation of current CVD management and more specifically, gap analysis and as a tool for assessment of the type of CVDs, prevention, treatment, and control by health care decision makers.

A Guide to Writing a Qualitative Systematic Review Protocol to Enhance Evidence-Based Practice in Nursing and Health Care.

PubMed

Butler, Ashleigh; Hall, Helen; Copnell, Beverley

2016-06-01

The qualitative systematic review is a rapidly developing area of nursing research. In order to present trustworthy, high-quality recommendations, such reviews should be based on a review protocol to minimize bias and enhance transparency and reproducibility. Although there are a number of resources available to guide researchers in developing a quantitative review protocol, very few resources exist for qualitative reviews. To guide researchers through the process of developing a qualitative systematic review protocol, using an example review question. The key elements required in a systematic review protocol are discussed, with a focus on application to qualitative reviews: Development of a research question; formulation of key search terms and strategies; designing a multistage review process; critical appraisal of qualitative literature; development of data extraction techniques; and data synthesis. The paper highlights important considerations during the protocol development process, and uses a previously developed review question as a working example. This paper will assist novice researchers in developing a qualitative systematic review protocol. By providing a worked example of a protocol, the paper encourages the development of review protocols, enhancing the trustworthiness and value of the completed qualitative systematic review findings. Qualitative systematic reviews should be based on well planned, peer reviewed protocols to enhance the trustworthiness of results and thus their usefulness in clinical practice. Protocols should outline, in detail, the processes which will be used to undertake the review, including key search terms, inclusion and exclusion criteria, and the methods used for critical appraisal, data extraction and data analysis to facilitate transparency of the review process. Additionally, journals should encourage and support the publication of review protocols, and should require reference to a protocol prior to publication of the review results. © 2016 Sigma Theta Tau International.

International Guillain-Barré Syndrome Outcome Study: protocol of a prospective observational cohort study on clinical and biological predictors of disease course and outcome in Guillain-Barré syndrome.

PubMed

Jacobs, Bart C; van den Berg, Bianca; Verboon, Christine; Chavada, Govindsinh; Cornblath, David R; Gorson, Kenneth C; Harbo, Thomas; Hartung, Hans-Peter; Hughes, Richard A C; Kusunoki, Susumu; van Doorn, Pieter A; Willison, Hugh J

2017-06-01

Guillain-Barré syndrome (GBS) is an acute polyradiculoneuropathy with a highly variable clinical presentation, course, and outcome. The factors that determine the clinical variation of GBS are poorly understood which complicates the care and treatment of individual patients. The protocol of the ongoing International GBS Outcome Study (IGOS), a prospective, observational, multicenter cohort study that aims to identify the clinical and biological determinants and predictors of disease onset, subtype, course and outcome of GBS is presented here. Patients fulfilling the diagnostic criteria for GBS, regardless of age, disease severity, variant forms, or treatment, can participate if included within 2 weeks after onset of weakness. Information about demography, preceding infections, clinical features, diagnostic findings, treatment, course, and outcome is collected. In addition, cerebrospinal fluid and serial blood samples for serum and DNA is collected at standard time points. The original aim was to include at least 1,000 patients with a follow-up of 1-3 years. Data are collected via a web-based data entry system and stored anonymously. IGOS started in May 2012 and by January 2017 included more than 1,400 participants from 143 active centers in 19 countries across 5 continents. The IGOS data/biobank is available for research projects conducted by expertise groups focusing on specific topics including epidemiology, diagnostic criteria, clinimetrics, electrophysiology, antecedent events, antibodies, genetics, prognostic modeling, treatment effects, and long-term outcome of GBS. The IGOS will help to standardize the international collection of data and biosamples for future research of GBS. © 2017 Peripheral Nerve Society.

Using a wearable near-infrared spectroscopy device in children with Tourette syndrome

NASA Astrophysics Data System (ADS)

Cheong, Pou-Leng; Li, Ting-Yi; Sun, Chia-Wei

2018-02-01

1. Background Tourette syndrome (TS) is a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. Near-Infrared Spectroscopy (NIRS) can assess brain function non-invasively by detecting changes in blood hemoglobin concentrations associated with neural activity with tasks like Posner's paradigm (concerning response inhibition and attention shifts). 2. Objective To develop a possible noninvasive objective neuroimaging protocol with a wearable wireless device for assessment of brain activities in children with Tourette syndrome. 3. Method Children aged 6-15 years, with TS or healthy control, received functional NIRS (task-based) with the Posner paradigm after informed consent and neuropsychiatric tests (including WISC-IV test, SNAP-IV rating scale, Yale Global Tic Severity Scale Score). Behavioral data (reaction time and error rates (omission, anticipation, orientation) and NIRS data for neural changes by changes in oxy-hemoglobin and deoxy-hemoglobin levels were recorded and statistically analyzed using the SPSS software. 4. Results 20 subjects were included, 13 male and 7 female (mean age: 9.79 years; all right-handed). No significant differences in reaction time and error rate between Tourette subjects and control. For the NIRS data, more dominant activation at left prefrontal area with increasing flow with task was seen in control subjects while no dominant activation or flow increase with task was noted in Tourette subjects. 5. Conclusion NIRS with prefrontal channels with the wearable wireless device can effectively assess the frontal activation differences and thus probably act as promising neurofeedback tools for TS or other developmental disorders like autism or attention deficit hyperactivity disorder.

Acupuncture and moxibustion for stress-related disorders

PubMed Central

2014-01-01

Acupuncture and moxibustion, which medical doctors are licensed by the government of Japan to perform, can improve the psychological relationship between doctors and patients, especially when it is disturbed by a “game”, a dysfunctional interpersonal interaction that is repeated unintentionally. This advantage is due to the essential properties of acupuncture and moxibustion. Acupuncture and moxibustion are helpful in treating somatoform disorders, especially musculoskeletal symptoms. In Japan, a holistic acupuncture and moxibustion therapy called Sawada-style has been developed. This is based on fundamental meridian points that are considered to have effects on central, autonomic nervous, immune, metabolic, and endocrine systems to regulate the whole body balance. In addition, some of the fundamental points have effects on Qi, blood, and water patterns associated with major depression, generalized anxiety disorder, eating disorders, and somatoform disorders. The fixed protocol of Sawada-style would be suitable for large-scale, randomized, controlled studies in the future. Recent systematic reviews indicate that electroacupuncture would be a useful addition to antidepressant therapy for some symptoms accompanying fibromyalgia. Acupuncture and moxibustion are also recommended for irritable bowel syndrome, instead of Western drug therapy. Surprisingly, the dorsal prefrontal cerebral cortex, which is associated with a method of scalp acupuncture applied for gastrointestinal disorders, has been found to be activated in patients with irritable bowel syndrome. It is quite possible that regulation of this cortical area is related to the effect of scalp acupuncture. This acupuncture method can be effective not only for irritable bowel syndrome but also for other stress-related gastrointestinal disorders. PMID:24456818

Hypertonic lactated saline resuscitation reduces the risk of abdominal compartment syndrome in severely burned patients.

PubMed

Oda, Jun; Ueyama, Masashi; Yamashita, Katsuyuki; Inoue, Takuya; Noborio, Mitsuhiro; Ode, Yasumasa; Aoki, Yoshiki; Sugimoto, Hisashi

2006-01-01

Secondary abdominal compartment syndrome is a lethal complication after resuscitation from burn shock. Hypertonic lactated saline (HLS) infusion reduces early fluid requirements in burn shock, but the effects of HLS on intraabdominal pressure have not been clarified. Patients admitted to our burn unit between 2002 and 2004 with burns > or =40% of the total body surface area without severe inhalation injury were entered into a fluid resuscitation protocol using HLS (n = 14) or lactated Ringer's solution (n = 22). Urine output was monitored hourly with a goal of 0.5 to 1.0 mL/kg per hour. Hemodynamic parameters, blood gas analysis, intrabladder pressure as an indicator of intraabdominal pressure (IAP), and the peak inspiratory pressure were recorded. Pulmonary compliance and the abdominal perfusion pressure were also calculated. In the HLS group, the amount of intravenous fluid volume needed to maintain adequate urine output was less at 3.1 +/- 0.9 versus 5.2 +/- 1.2 mL/24 h per kg per percentage of total body surface area, and the peak IAP and peak inspiratory pressure at 24 hours after injury were significantly lower than those in the lactated Ringer's group. Two of 14 patients (14%) in the HLS group and 11 of 22 patients (50%) developed IAH within 20.8 +/- 7.2 hours after injury. In patients with severe burn injury, a large intravenous fluid volume decreases abdominal perfusion during the resuscitative period because of increased IAP. Our data suggest that HLS resuscitation could reduce the risk of secondary abdominal compartment syndrome with lower fluid load in burn shock patients.

Zika virus and Guillain-Barré syndrome in Bangladesh.

PubMed

GeurtsvanKessel, Corine H; Islam, Zhahirul; Islam, Md Badrul; Kamga, Sandra; Papri, Nowshin; van de Vijver, David A M C; Reusken, Chantal; Mogling, Ramona; Heikema, Astrid P; Jahan, Israt; Pradel, Florence K; Pavlicek, Rebecca L; Mohammad, Quazi D; Koopmans, Marion P G; Jacobs, Bart C; Endtz, Hubert P

2018-05-01

Previous studies have associated Guillain-Barré syndrome (GBS) with Zika virus (ZIKV) outbreaks in South America and Oceania. In Asia, ZIKV is known to circulate widely, but the association with Guillain-Barré syndrome is unclear. We investigated whether endemic ZIKV infection is associated with the development of GBS. A prospective study was conducted from 2011 to 2015 in Bangladesh. A total of 418 patients and 418 healthy family controls were included in the study. Patients were diagnosed with GBS prior to inclusion according to established criteria. Detailed information on the epidemiology, clinical presentation, electrophysiology, diagnosis, disease severity, and clinical course were obtained during a follow-up of 1 year using a predefined protocol. ZIKV-neutralizing antibodies were detected in our study from 2013 onwards. The prevalence of ZIKV-neutralizing antibodies was not significantly higher in patients with GBS compared to healthy controls (OR 2.23, P = 0.14, 95% CI 0.77-6.53). Serological evidence for prior ZIKV infection in patients with GBS was associated with more frequent cranial, sensory, and autonomic nerve involvement compared to GBS patients with Campylobacter jejuni , the predominant preceding infection in GBS worldwide. Nerve-conduction studies revealed that ZIKV antibodies were associated with a demyelinating subtype of GBS, while C . jejuni infections were related to an axonal subtype. No significant association was found between ZIKV infection and GBS in Bangladesh, but GBS following ZIKV infection was characterized by a distinct clinical and electrophysiological subtype compared to C . jejuni infection. These findings indicate that ZIKV may precede a specific GBS subtype but the risk is low.

Adult-Onset Hypogonadism.

PubMed

Khera, Mohit; Broderick, Gregory A; Carson, Culley C; Dobs, Adrian S; Faraday, Martha M; Goldstein, Irwin; Hakim, Lawrence S; Hellstrom, Wayne J G; Kacker, Ravi; Köhler, Tobias S; Mills, Jesse N; Miner, Martin; Sadeghi-Nejad, Hossein; Seftel, Allen D; Sharlip, Ira D; Winters, Stephen J; Burnett, Arthur L

2016-07-01

In August 2015, an expert colloquium commissioned by the Sexual Medicine Society of North America (SMSNA) convened in Washington, DC, to discuss the common clinical scenario of men who present with low testosterone (T) and associated signs and symptoms accompanied by low or normal gonadotropin levels. This syndrome is not classical primary (testicular failure) or secondary (pituitary or hypothalamic failure) hypogonadism because it may have elements of both presentations. The panel designated this syndrome adult-onset hypogonadism (AOH) because it occurs commonly in middle-age and older men. The SMSNA is a not-for-profit society established in 1994 to promote, encourage, and support the highest standards of practice, research, education, and ethics in the study of human sexual function and dysfunction. The panel consisted of 17 experts in men's health, sexual medicine, urology, endocrinology, and methodology. Participants declared potential conflicts of interest and were SMSNA members and nonmembers. The panel deliberated regarding a diagnostic process to document signs and symptoms of AOH, the rationale for T therapy, and a monitoring protocol for T-treated patients. The evaluation and management of hypogonadal syndromes have been addressed in recent publications (ie, the Endocrine Society, the American Urological Association, and the International Society for Sexual Medicine). The primary purpose of this document was to support health care professionals in the development of a deeper understanding of AOH, particularly in how it differs from classical primary and secondary hypogonadism, and to provide a conceptual framework to guide its diagnosis, treatment, and follow-up. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

Testing of low-risk patients presenting to the emergency department with chest pain: a scientific statement from the American Heart Association.

PubMed

Amsterdam, Ezra A; Kirk, J Douglas; Bluemke, David A; Diercks, Deborah; Farkouh, Michael E; Garvey, J Lee; Kontos, Michael C; McCord, James; Miller, Todd D; Morise, Anthony; Newby, L Kristin; Ruberg, Frederick L; Scordo, Kristine Anne; Thompson, Paul D

2010-10-26

The management of low-risk patients presenting to emergency departments is a common and challenging clinical problem entailing 8 million emergency department visits annually. Although a majority of these patients do not have a life-threatening condition, the clinician must distinguish between those who require urgent treatment of a serious problem and those with more benign entities who do not require admission. Inadvertent discharge of patients with acute coronary syndrome from the emergency department is associated with increased mortality and liability, whereas inappropriate admission of patients without serious disease is neither indicated nor cost-effective. Clinical judgment and basic clinical tools (history, physical examination, and electrocardiogram) remain primary in meeting this challenge and affording early identification of low-risk patients with chest pain. Additionally, established and newer diagnostic methods have extended clinicians' diagnostic capacity in this setting. Low-risk patients presenting with chest pain are increasingly managed in chest pain units in which accelerated diagnostic protocols are performed, comprising serial electrocardiograms and cardiac injury markers to exclude acute coronary syndrome. Patients with negative findings usually complete the accelerated diagnostic protocol with a confirmatory test to exclude ischemia. This is typically an exercise treadmill test or a cardiac imaging study if the exercise treadmill test is not applicable. Rest myocardial perfusion imaging has assumed an important role in this setting. Computed tomography coronary angiography has also shown promise in this setting. A negative accelerated diagnostic protocol evaluation allows discharge, whereas patients with positive findings are admitted. This approach has been found to be safe, accurate, and cost-effective in low-risk patients presenting with chest pain.

Open lung approach vs acute respiratory distress syndrome network ventilation in experimental acute lung injury.

PubMed

Spieth, P M; Güldner, A; Carvalho, A R; Kasper, M; Pelosi, P; Uhlig, S; Koch, T; Gama de Abreu, M

2011-09-01

Setting and strategies of mechanical ventilation with positive end-expiratory pressure (PEEP) in acute lung injury (ALI) remains controversial. This study compares the effects between lung-protective mechanical ventilation according to the Acute Respiratory Distress Syndrome Network recommendations (ARDSnet) and the open lung approach (OLA) on pulmonary function and inflammatory response. Eighteen juvenile pigs were anaesthetized, mechanically ventilated, and instrumented. ALI was induced by surfactant washout. Animals were randomly assigned to mechanical ventilation according to the ARDSnet protocol or the OLA (n=9 per group). Gas exchange, haemodynamics, pulmonary blood flow (PBF) distribution, and respiratory mechanics were measured at intervals and the lungs were removed after 6 h of mechanical ventilation for further analysis. PEEP and mean airway pressure were higher in the OLA than in the ARDSnet group [15 cmH(2)O, range 14-18 cmH(2)O, compared with 12 cmH(2)O; 20.5 (sd 2.3) compared with 18 (1.4) cmH(2)O by the end of the experiment, respectively], and OLA was associated with improved oxygenation compared with the ARDSnet group after 6 h. OLA showed more alveolar overdistension, especially in gravitationally non-dependent regions, while the ARDSnet group was associated with more intra-alveolar haemorrhage. Inflammatory mediators and markers of lung parenchymal stress did not differ significantly between groups. The PBF shifted from ventral to dorsal during OLA compared with ARDSnet protocol [-0.02 (-0.09 to -0.01) compared with -0.08 (-0.12 to -0.06), dorsal-ventral gradients after 6 h, respectively]. According to the OLA, mechanical ventilation improved oxygenation and redistributed pulmonary perfusion when compared with the ARDSnet protocol, without differences in lung inflammatory response.

Treatment of Middle East Respiratory Syndrome with a combination of lopinavir-ritonavir and interferon-β1b (MIRACLE trial): study protocol for a randomized controlled trial.

PubMed

Arabi, Yaseen M; Alothman, Adel; Balkhy, Hanan H; Al-Dawood, Abdulaziz; AlJohani, Sameera; Al Harbi, Shmeylan; Kojan, Suleiman; Al Jeraisy, Majed; Deeb, Ahmad M; Assiri, Abdullah M; Al-Hameed, Fahad; AlSaedi, Asim; Mandourah, Yasser; Almekhlafi, Ghaleb A; Sherbeeni, Nisreen Murad; Elzein, Fatehi Elnour; Memon, Javed; Taha, Yusri; Almotairi, Abdullah; Maghrabi, Khalid A; Qushmaq, Ismael; Al Bshabshe, Ali; Kharaba, Ayman; Shalhoub, Sarah; Jose, Jesna; Fowler, Robert A; Hayden, Frederick G; Hussein, Mohamed A

2018-01-30

It had been more than 5 years since the first case of Middle East Respiratory Syndrome coronavirus infection (MERS-CoV) was recorded, but no specific treatment has been investigated in randomized clinical trials. Results from in vitro and animal studies suggest that a combination of lopinavir/ritonavir and interferon-β1b (IFN-β1b) may be effective against MERS-CoV. The aim of this study is to investigate the efficacy of treatment with a combination of lopinavir/ritonavir and recombinant IFN-β1b provided with standard supportive care, compared to treatment with placebo provided with standard supportive care in patients with laboratory-confirmed MERS requiring hospital admission. The protocol is prepared in accordance with the SPIRIT (Standard Protocol Items: Recommendations for Interventional Trials) guidelines. Hospitalized adult patients with laboratory-confirmed MERS will be enrolled in this recursive, two-stage, group sequential, multicenter, placebo-controlled, double-blind randomized controlled trial. The trial is initially designed to include 2 two-stage components. The first two-stage component is designed to adjust sample size and determine futility stopping, but not efficacy stopping. The second two-stage component is designed to determine efficacy stopping and possibly readjustment of sample size. The primary outcome is 90-day mortality. This will be the first randomized controlled trial of a potential treatment for MERS. The study is sponsored by King Abdullah International Medical Research Center, Riyadh, Saudi Arabia. Enrollment for this study began in November 2016, and has enrolled thirteen patients as of Jan 24-2018. ClinicalTrials.gov, ID: NCT02845843 . Registered on 27 July 2016.

Apheresis and intravenous immunoglobulins used in addition to conventional therapy to treat high-risk pregnant antiphospholipid antibody syndrome patients. A prospective study.

PubMed

Ruffatti, Amelia; Favaro, Maria; Hoxha, Ariela; Zambon, Alessandra; Marson, Piero; Del Ross, Teresa; Calligaro, Antonia; Tonello, Marta; Nardelli, Giovanni B

2016-06-01

Pregnant women with triple antibody positive antiphospholipid syndrome (APS) who have had thrombosis or a history of early, severe pregnancy complications are generally considered at high risk of pregnancy loss. The objectives of this study were to investigate the efficacy and safety of a relatively new treatment protocol used in addition to conventional therapy in high-risk pregnant patients affected with primary APS. The study's two inclusion criteria were: (1) the presence of triple antiphospholipid positivity, (2) previous thrombosis and/or a history of one or more early, severe pregnancy complications. Eighteen pregnancies occurring between 2002 and 2015 in 14 APS patients, (mean age 34.8±3.6 SD) were monitored. All 14 (100%) patients had triple antiphospholipid positivity. In addition, six of them (42.8%) had a history of thrombosis, four (28.6%) had one or more previous early and severe pregnancy complications, and four (30.8%) met both clinical study criteria. The study protocol included weekly plasmapheresis or immunoadsorption and fortnightly 1g/kg intravenous immunoglobulins. Seventeen of the pregnancies (94.4%) produced live neonates, all born between the 26th and 37th weeks of gestation (mean 33.1±3.5 SD). One female (5.5%), born prematurely at 24 weeks, died of sepsis a week after birth. There were two cases (11.1%) of severe pregnancy complications. No treatment side effects were registered. Given the high live birth rate and the safety associated to it, the study protocol described here could be taken into consideration by medical teams treating high-risk APS pregnant patients. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Incorporating DNA Sequencing into Current Prenatal Screening Practice for Down's Syndrome

PubMed Central

Wald, Nicholas J.; Bestwick, Jonathan P.

2013-01-01

Background Prenatal screening for Down's syndrome is performed using biochemical and ultrasound markers measured in early pregnancy such as the Integrated test using first and second trimester markers. Recently, DNA sequencing methods have been introduced on free DNA in maternal plasma, yielding a high screening performance. These methods are expensive and there is a test failure rate. We determined the screening performance of merging the Integrated test with the newer DNA techniques in a protocol that substantially reduces the cost compared with universal DNA testing and still achieves high screening performance with no test failures. Methods Published data were used to model screening performance of a protocol in which all women receive the first stage of the Integrated test at about 11 weeks of pregnancy. On the basis of this higher risk women have reflex DNA testing and lower risk women as well as those with a failed DNA test complete the Integrated test at about 15 weeks. Results The overall detection rate was 95% with a 0.1% false-positive rate if 20% of women were selected to receive DNA testing. If all women had DNA testing the detection rate would be 3 to 4 percentage points higher with a false-positive rate 30 times greater if women with failed tests were treated as positive and offered a diagnostic amniocentesis, or 3 times greater if they had a second trimester screening test (Quadruple test) and treated as positive only if this were positive. The cost per women screened would be about one-fifth, compared with universal DNA testing, if the DNA test were 20 times the cost of the Integrated test. Conclusion The proposed screening protocol achieves a high screening performance without programme test failures and at a substantially lower cost than offering all women DNA testing. PMID:23527014

True and sham acupuncture produced similar frequency of ovulation and improved LH to FSH ratios in women with polycystic ovary syndrome.

PubMed

Pastore, Lisa M; Williams, Christopher D; Jenkins, Jeffrey; Patrie, James T

2011-10-01

Acupuncture may represent a nonpharmaceutical treatment for women with polycystic ovary syndrome (PCOS), based on four studies. The objective of the study was to determine whether true, as compared with sham, acupuncture normalizes pituitary gonadotropin hormones and increases ovulatory frequency in women with PCOS. This was a randomized, double-blind, sham-controlled clinical trial (5 month protocol). The study was conducted in central Virginia. Eighty-four reproductive-aged women completed the intervention. Eligibility required a PCOS diagnosis and no hormonal intervention 60 d before enrollment. Intervention included 12 sessions of true or sham acupuncture (Park sham device) for 8 wk. Serum LH and FSH at baseline, after intervention, and 3 months later were measured. Ovulation was measured with weekly urine or blood samples. Both arms demonstrated a similar mean ovulation rate over the 5 months (0.37/month among n = 40 true acupuncture and 0.40/month among n = 44 sham participants, P = 0.6), similar LH to FSH ratio improvement (-0.5 and -0.8 true and sham, respectively, P < 0.04 after intervention vs. baseline) and a similar decline in LH over the 5-month protocol (P < 0.05). Neither arm experienced a change in FSH. There were seven pregnancies (no difference by intervention, P = 0.7). Lower fasting insulin and free testosterone were highly correlated with a higher ovulation rate within the true acupuncture group only (P = 0.03), controlling for prestudy menstrual frequency and body mass index. We were unable to discern a difference between the true and sham acupuncture protocols for these women with PCOS, and both groups had a similar improvement in their LH/FSH ratio.

21 CFR 814.19 - Product development protocol (PDP).

Code of Federal Regulations, 2011 CFR

2011-04-01

... 21 Food and Drugs 8 2011-04-01 2011-04-01 false Product development protocol (PDP). 814.19 Section...) MEDICAL DEVICES PREMARKET APPROVAL OF MEDICAL DEVICES General § 814.19 Product development protocol (PDP). A class III device for which a product development protocol has been declared completed by FDA under...

21 CFR 814.19 - Product development protocol (PDP).

Code of Federal Regulations, 2010 CFR

2010-04-01

... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Product development protocol (PDP). 814.19 Section...) MEDICAL DEVICES PREMARKET APPROVAL OF MEDICAL DEVICES General § 814.19 Product development protocol (PDP). A class III device for which a product development protocol has been declared completed by FDA under...

The effects of Bifidobacterium animalis ssp. lactis B94 on gastrointestinal wellness in adults with Prader-Willi syndrome: study protocol for a randomized controlled trial.

PubMed

Alyousif, Zainab; Miller, Jennifer L; Sandoval, Mariana Y; MacPherson, Chad W; Nagulesapillai, Varuni; Dahl, Wendy J

2018-04-27

Constipation is a frequent problem in adults with Prader-Willi syndrome. Certain probiotics have been shown to improve transit and gastrointestinal symptoms of adults with functional constipation. The aim of this study is to determine the effect of daily consumption of Bifidobacterium animalis ssp. lactis B94 (B. lactis B94) on stool frequency, stool form, and gastrointestinal symptoms in adults with Prader-Willi syndrome. Adults with Prader-Willi syndrome (18-75 years old, n = 36) will be recruited and enrolled in a 20-week, randomized, double-blind, placebo-controlled, crossover study. Study subjects will be randomized to B. lactis B94 or placebo each for a 4-week period, preceded by a 4-week baseline and followed by 4-week washouts. Subjects will complete daily records of stool frequency and stool form (a proxy of transit time). Dietary intake data also will be collected. Stools, one in each period, will be collected for exploratory microbiota analyses. To our knowledge, this is the first randomized controlled trial evaluating the effectiveness of B. lactis in adults with Prader-Willi syndrome. The results of this study will provide evidence of efficacy for future clinical trials in patient populations with constipation. ClinicalTrials.gov ( NCT03277157 ). Registered on 08 September 2017.

Adaptation to transient postural perturbations

NASA Technical Reports Server (NTRS)

Andres, Robert O.

1992-01-01

This research was first proposed in May, 1986, to focus on some of the problems encountered in the analysis of postural responses gathered from crewmembers. The ultimate driving force behind this line of research was the desire to treat, predict, or explain 'Space Adaptation Syndrome' (SAS) and hence circumvent any adverse effects of space motion sickness on crewmember performance. The aim of this project was to develop an easily implemented analysis of the transient responses to platform translation that can be elicited with a protocol designed to force sensorimotor reorganization, utilizing statistically reliable criterion measures. This report will present: (1) a summary of the activity that took place in each of the three funded years of the project; (2) discussion of experimental results and their implications for future research; and (3) a list of presentations and publications resulting from this project.

Management protocols for chronic heart failure in India.

PubMed

Mishra, S; Mohan, J C; Nair, Tiny; Chopra, V K; Harikrishnan, S; Guha, S; Ramakrishnan, S; Ray, S; Sethi, R; Samal, U C; Sarat Chandra, K; Hiremath, M S; Banerjee, A K; Kumar, S; Das, M K; Deb, P K; Bahl, V K

Heart failure is a common clinical syndrome and a global health priority. The burden of heart failure is increasing at an alarming rate worldwide as well as in India. Heart failure not only increases the risk of mortality, morbidity and worsens the patient's quality of life, but also puts a huge burden on the overall healthcare system. The management of heart failure has evolved over the years with the advent of new drugs and devices. This document has been developed with an objective to provide standard management guidance and simple heart failure algorithms to aid Indian clinicians in their daily practice. It would also inform the clinicians on the latest evidence in heart failure and provide guidance to recognize and diagnose chronic heart failure early and optimize management. Copyright © 2017. Published by Elsevier B.V.

Review of the refeeding syndrome.

PubMed

Kraft, Michael D; Btaiche, Imad F; Sacks, Gordon S

2005-12-01

Refeeding syndrome describes a constellation of metabolic disturbances that occur as a result of reinstitution of nutrition to patients who are starved or severely malnourished. Patients can develop fluid and electrolyte disorders, especially hypophosphatemia, along with neurologic, pulmonary, cardiac, neuromuscular, and hematologic complications. We reviewed literature on refeeding syndrome and the associated electrolyte abnormalities, fluid disturbances, and associated complications. In addition to assessing scientific literature, we also considered clinical experience and judgment in developing recommendations for prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk for developing refeeding syndrome, institute nutrition support cautiously, and correct and supplement electrolyte and vitamin deficiencies to avoid refeeding syndrome. We provide suggestions for the prevention of refeeding syndrome and suggestions for treatment of electrolyte disturbances and complications in patients who develop refeeding syndrome, according to evidence in the literature, the pathophysiology of refeeding syndrome, and clinical experience and judgment.

A New Mouse Model That Spontaneously Develops Chronic Liver Inflammation and Fibrosis

PubMed Central

Fransén-Pettersson, Nina; Duarte, Nadia; Nilsson, Julia; Lundholm, Marie; Mayans, Sofia; Larefalk, Åsa; Hannibal, Tine D.; Hansen, Lisbeth; Schmidt-Christensen, Anja; Ivars, Fredrik; Cardell, Susanna; Palmqvist, Richard; Rozell, Björn

2016-01-01

Here we characterize a new animal model that spontaneously develops chronic inflammation and fibrosis in multiple organs, the non-obese diabetic inflammation and fibrosis (N-IF) mouse. In the liver, the N-IF mouse displays inflammation and fibrosis particularly evident around portal tracts and central veins and accompanied with evidence of abnormal intrahepatic bile ducts. The extensive cellular infiltration consists mainly of macrophages, granulocytes, particularly eosinophils, and mast cells. This inflammatory syndrome is mediated by a transgenic population of natural killer T cells (NKT) induced in an immunodeficient NOD genetic background. The disease is transferrable to immunodeficient recipients, while polyclonal T cells from unaffected syngeneic donors can inhibit the disease phenotype. Because of the fibrotic component, early on-set, spontaneous nature and reproducibility, this novel mouse model provides a unique tool to gain further insight into the underlying mechanisms mediating transformation of chronic inflammation into fibrosis and to evaluate intervention protocols for treating conditions of fibrotic disorders. PMID:27441847

Somnolence after prophylactic cranial irradiation in children with acute lymphoblastic leukaemia

DOE Office of Scientific and Technical Information (OSTI.GOV)

Freeman, J.E.; Johnston, P.G.B.; Voke, J.M.

1973-12-01

A transient cerebral disturbance characterized by somnolence of varying degree is described in children after cranial irradiation given as part of central nervous system (C.N.S.) prophylaxis for acute lymphoblastic leukemia in remission. Out of 28 such children receiving cranial irradiation from a telecobalt unit as part of the Medical Research Council protocol for C.N.S. prophylaxis 11 (39%) developed pronounced symptoms of somnolence, anorexia, and lethargy some six weeks after the completion of cranial irradiation, and a further 11 (39%) developed these features in mild form. In all cases the symptoms were transient, no focal neurological abnormality was detected, and allmore » children made a spontansous and complete recovery. E.E.G. studies on five somnolent children showed similar abnormal activity of diffuse and patchy distribution over both hemispheres. Indirect evidence is presented to support the concept that this syndrome represents a transient radiation encephalopathy, analogous to acute transient radiation myelopathy, caused by temporary disturbance of myelin synthesis. (auth)« less

Chymodiactin in patients with herniated lumbar intervertebral disc(s). An open-label, multicenter study.

PubMed

McDermott, D J; Agre, K; Brim, M; Demma, F J; Nelson, J; Wilson, R R; Thisted, R A

1985-04-01

To extent the safety information for Chymodiactin (chymopapain for injection), 37 neurologic and orthopedic surgeons conducted an open-label, multicenter, phase 3 clinical study. A total of 1,498 patients with one or two herniated lumbar intervertebral discs were enrolled. Therapeutic results were generally favorable, with the percentages of patients achieving either excellent or good (or successful) results ranging from 79.6% to 88.9%, depending on criteria employed in the tabulation. There were 13 cases of anaphylaxis, and 2 of these patients died of complications of anaphylaxis. Two additional patients experienced serious neurologic problems. The first of these two patients developed transverse myelitis and paraplegia approximately 3 weeks following chemonucleolysis. Transdural discograms at three levels had been done approximately 2 days prior to chemonucleolysis, in violation of the protocol. The second patient developed acute cauda equina syndrome, and, despite emergency laminectomy, had permanent neurologic sequelae. Back spasm and stiffness/soreness were the most frequently encountered adverse experiences.

Off-road machine controls: investigating the risk of carpal tunnel syndrome.

PubMed

Oliver, M; Rickards, J; Biden, E

2000-11-01

Occupationally induced hand and wrist repetitive strain injuries (RSI) such as carpal tunnel syndrome (CTS) are a growing problem in North America. The purpose of this investigation was to apply a modification of the wrist flexion/ extension models of Armstrong and Chaffin (1978, 1979) to determine if joystick controller use in off-road machines could contribute to the development of CTS. A construction equipment cab in the laboratory was instrumented to allow force, displacement and angle measurements from 10 operators while they completed an approximately 30-min joystick motion protocol. The investigation revealed that both the external fingertip and predicted internal wrist forces resulting from the use of these joysticks were very low, indicating that the CTS risk associated with this factor was slight. However, the results also indicated that, particularly for the 'forward' and 'left' right side motions and for all left side motions, force was exerted by other portions of the fingers and hand, thereby under-predicting the tendon tension and internal wrist forces. Wrist angles observed were highest for motions that moved the joysticks to the sides rather than front to back. Thus, the 'right' and 'left' motions for both hands posed a higher risk for CTS development. When the right hand moved into the 'right' position and the left hand moved into the 'left' position, the wrist went into extension in both cases. Results indicate that neither learning nor fatigue affected the results.

Neurological Surgery at the National Institutes of Health

PubMed Central

Mehta, Gautam U.; Heiss, John D.; Park, John K.; Asthagiri, Ashok R.; Lonser, Russell R.

2010-01-01

The Surgical Neurology Branch (SNB) in the intramural program of the National Institute of Neurological Disorders and Stroke at the National Institutes of Health has been a unique setting for academic neurosurgery for nearly 60 years. Every patient evaluated and treated in the SNB is enrolled in a clinical research protocol, which underscores a singular focus on advancing neurosurgical research and patient care. Since the inception of the SNB, this research effort has been driven by dedicated clinician-investigators and basic scientists including Maitland Baldwin, Igor Klatzo, John M. Van Buren, Ayub K. Ommaya, Richard J. Youle and Edward H. Oldfield. These and other SNB investigators have studied and advanced treatment of a number of neuropathologic processes including delineation of differences between cytotoxic and vasogenic edema, head injury, Cushing’s disease, the effects of vascular endothelial growth factor in nervous system tissues, tumor suppressor syndromes, the pathophysiology of syringomyelia, mechanisms underlying cerebral vasospasm after subarachnoid hemorrhage, spinal arteriovenous malformations, mechanisms of cell death and drug delivery. Currently, SNB efforts are focused on central nervous system drug-delivery, the natural history of familial tumor syndromes, functional neurosurgery, epilepsy, vasospasm and development of chemotherapeutics for malignant glioma. Throughout its history, the SNB has also been dedicated to training neurosurgeon clinician-investigators; 22 previous fellows/staff have become Chairs of their respective neurosurgical departments. Recently, the commitment to training future neurosurgeon clinician-investigators has been further defined with the development of a residency-training program in neurological surgery approved in 2010. PMID:21278842

Developing family planning nurse practitioner protocols.

PubMed

Hawkins, J W; Roberto, D

1984-01-01

This article focuses on the process of development of protocols for family planning nurse practitioners. A rationale for the use of protocols, a definition of the types and examples, and the pros and cons of practice with protocols are presented. A how-to description for the development process follows, including methods and a suggested tool for critique and evaluation. The aim of the article is to assist nurse practitioners in developing protocols for their practice.

Attempted elimination of porcine reproductive and respiratory syndrome virus from a seedstock farm by vaccination of the breeding herd and nursery depopulation.

PubMed

Dee, S A; Joo, H S; Park, B K; Molitor, T W; Bruna, G

1998-05-23

An attempt was made to eliminate the virus of porcine reproductive and respiratory syndrome from a seedstock farm by using the combined strategies of vaccination and nursery depopulation. The breeding herd was vaccinated with a modified-live virus vaccine; all breeding and lactating adult animals were vaccinated twice, with a 30-day interval between vaccinations. All the sows were vaccinated in this way except for those in the third trimester of gestation (66 to 114 days) which were vaccinated on day 7 of lactation and 30 days later. A serological profiling system was developed to assess when the piglets became infected. Pigs from vaccinated sows were profiled at weekly intervals after weaning, using immunofluorescence tests for the detection of IgM and IgG, a serum neutralising antibody test, and virus isolation. After completion of the protocol, the nursery and finishing sites were monitored for 15 months. Evidence of reinfection in the finishing stage was detected 16 months after depopulation, but not in the nursery or the breeding herd. The source of the virus was not determined, but suspected origins included a lack of biosecurity, aerosol transmission from another infected farm or a persistently infected pig.

Neurotoxic Weapons and Syndromes.

PubMed

Carota, Antonio; Calabrese, Pasquale; Bogousslavsky, Julien

2016-01-01

The modern era of chemical and biological warfare began in World War I with the large-scale production and use of blistering and choking agents (chlorine, phosgene and mustard gases) in the battlefield. International treaties (the 1925 Geneva Protocol, the 1975 Biological and Toxin Weapons Convention and the 1993 Chemical Weapons Convention) banned biological and chemical weapons. However, several countries are probably still engaged in their development. Hence, there is risk of these weapons being used in the future. This chapter will focus on neurotoxic weapons (e.g. nerve agents, chemical and biological neurotoxins, psychostimulants), which act specifically or preeminently on the central nervous system and/or the neuromuscular junction. Deeply affecting the function of the nervous system, these agents either have incapacitating effects or cause clusters of casualties who manifest primary symptoms of encephalopathy, seizures, muscle paralysis and respiratory failure. The neurologist should be prepared both to notice patterns of symptoms and signs that are sufficiently consistent to raise the alarm of neurotoxic attacks and to define specific therapeutic interventions. Additionally, extensive knowledge on neurotoxic syndromes should stimulate scientific research to produce more effective antidotes and antibodies (which are still lacking for most neurotoxic weapons) for rapid administration in aerosolized forms in the case of terrorist or warfare scenarios. © 2016 S. Karger AG, Basel.

Use of the PiCCO system in critically ill patients with septic shock and acute respiratory distress syndrome: a study protocol for a randomized controlled trial.

PubMed

Zhang, Zhongheng; Xu, Xiao; Yao, Min; Chen, Huilan; Ni, Hongying; Fan, Haozhe

2013-02-01

Hemodynamic monitoring is very important in critically ill patients with shock or acute respiratory distress syndrome(ARDS). The PiCCO (Pulse index Contour Continuous Cardiac Output, Pulsion Medical Systems, Germany) system has been developed and used in critical care settings for several years. However, its impact on clinical outcomes remains unknown. The study is a randomized controlled multi-center trial. A total of 708 patients with ARDS, septic shock or both will be included from January 2012 to January 2014. Subjects will be randomized to receive PiCCO monitoring or not. Our primary end point is 30-day mortality, and secondary outcome measures include ICU length of stay, days on mechanical ventilation, days of vasoactive agent support, ICU-free survival days during a 30-day period, mechanical-ventilation-free survival days during a 30-day period, and maximum SOFA score during the first 7 days. We investigate whether the use of PiCCO monitoring will improve patient outcomes in critically ill patients with ARDS or septic shock. This will provide additional data on hemodynamic monitoring and help clinicians to make decisions on the use of PiCCO. http://www.clinicaltrials.gov NCT01526382.

Cardiovascular fitness, insulin resistance and metabolic syndrome in severely obese prepubertal Italian children.

PubMed

Brufani, Claudia; Grossi, Armando; Fintini, Danilo; Fiori, Rossana; Ubertini, Graziamaria; Colabianchi, Diego; Ciampalini, Paolo; Tozzi, Alberto; Barbetti, Fabrizio; Cappa, Marco

2008-01-01

To evaluate if insulin resistance (IR) and metabolic syndrome (MS) were associated with poor cardiovascular fitness in very obese prepubertal Italian subjects. Children referred to the Endocrinology and Diabetes Unit of Bambino Gesù Children's Hospital underwent an OGTT with glucose and insulin assays. QUICKI, ISI and HOMA-IR were calculated. Total and HDL cholesterol, triglycerides and percentage of body fat (DEXA) were determined. Cardiovascular fitness (maximal treadmill time) was evaluated using a treadmill protocol. The MS was defined as having 3 or more of following risk factors: obesity, impaired glucose tolerance, high blood pressure, low HDL-cholesterol, high triglycerides. Fifty-five very obese prepubertal Italian children were enrolled in the study. Unadjusted correlation revealed maximal treadmill time negatively related to fasting insulin (r = -0.53, p < 0.0001) and HOMA-IR (r = -0.57, p < 0.0001) and positively to QUICKI (r = 0.51, p < 0.0001) and ISI (r = 0.46, p = 0.0035). These relationships remained significant when in multivariate analysis age, gender, BMI SD and body composition were accounted for (all p < 0.01). The presence of the MS was independently associated with maximal treadmill time. Poorcardiovascular fitness, IR and MS were independently related, suggesting that the relationship between fitness and insulin action develops early in life. Copyright 2008 S. Karger AG, Basel.

Identifying and assessing the substance-exposed infant.

PubMed

Clark, Lisa; Rohan, Annie

2015-01-01

As the rate of opioid prescription grows, so does fetal exposure to opioids during pregnancy. With increasing fetal exposure to both prescription and nonprescription drugs, there has been a concurrent increase in identification of Neonatal Withdrawal Syndrome (NWS) and adaptation difficulties after birth. In addition, extended use of opioids, barbiturates, and benzodiazepines in neonatal intensive care has resulted in iatrogenic withdrawal syndromes. There is a lack of evidence to support the use of any one specific evaluation strategy to identify NWS. Clinicians caring for infants must use a multimethod approach to diagnosis, including interview and toxicology screening. Signs of NWS are widely variable, and reflect dysfunction in autonomic regulation, state control, and sensory and motor functioning. Several assessment tools have been developed for assessing severity of withdrawal in term neonates. These tools assist in determining need and duration of pharmacologic therapy and help in titration of these therapies. Considerable variability exists in the pharmacologic and nonpharmacologic approaches to affected babies across settings. An evidence-based protocol for identification, evaluation, and management of NWS should be in place in every nursery. This article provides an overview of identification and assessment considerations for providers who care for babies at risk for or who are experiencing alterations in state, behavior, and responses after prenatal or iatrogenic exposure to agents associated with the spectrum of withdrawal.

Hepatic sinusoidal obstruction syndrome during maintenance therapy of childhood acute lymphoblastic leukemia is associated with continuous asparaginase therapy and mercaptopurine metabolites.

PubMed

Toksvang, Linea Natalie; De Pietri, Silvia; Nielsen, Stine N; Nersting, Jacob; Albertsen, Birgitte K; Wehner, Peder S; Rosthøj, Steen; Lähteenmäki, Päivi M; Nilsson, Daniel; Nystad, Tove A; Grell, Kathrine; Frandsen, Thomas L; Schmiegelow, Kjeld

2017-09-01

Hepatic sinusoidal obstruction syndrome (SOS) during treatment of childhood acute lymphoblastic leukemia (ALL) has mainly been associated with 6-thioguanine. The occurrence of several SOS cases after the introduction of extended pegylated asparaginase (PEG-asparaginase) therapy in the Nordic Society of Paediatric Haematology and Oncology (NOPHO) ALL2008 protocol led us to hypothesize that PEG-asparaginase, combined with other drugs, may trigger SOS during 6-thioguanine-free maintenance therapy. In children with ALL treated in Denmark according to the NOPHO ALL2008 protocol, we investigated the risk of SOS during methotrexate (MTX)/6-mercaptopurine (6MP) maintenance therapy that included PEG-asparaginase until week 33 (randomized to two- vs. six-week intervals), as well as alternating high-dose MTX or vincristine/dexamethasone pulses every four weeks. Among 130 children receiving PEG-asparaginase biweekly, 29 developed SOS (≥2 criteria: hyperbilirubinemia, hepatomegaly, ascites, weight gain ≥2.5%, unexplained thrombocytopenia <75 × 10 9 l -1 ) at a median of 30 days (interquartile range [IQR]: 17-66) into maintenance (cumulative incidence: 27%). SOS cases fulfilling one, two, or three Ponte di Legno criteria were classified as possible (n = 2), probable (n = 8), or verified (n = 19) SOS, respectively. Twenty-six cases (90%) occurred during PEG-asparaginase treatment, including 21 (81%) within 14 days from the last chemotherapy pulse compared with the subsequent 14 days (P = 0.0025). Cytotoxic 6MP metabolites were significantly higher on PEG-asparaginase compared to after its discontinuation. Time-dependent Cox regression analysis showed increased SOS hazard ratio (HR) for erythrocyte levels of methylated 6MP metabolites (HR: 1.09 per 1,000 nmol/mmol hemoglobin increase, 95% confidence interval: 1.05-1.14). Six-week PEG-asparaginase intervals significantly reduced SOS-specific hazards (P < 0.01). PEG-asparaginase increases cytotoxic 6MP metabolite levels and risk of SOS, potentially interacting with other chemotherapy pulses. © 2017 Wiley Periodicals, Inc.

Primary Immune Deficiency Treatment Consortium (PIDTC) report.

PubMed

Griffith, Linda M; Cowan, Morton J; Notarangelo, Luigi D; Kohn, Donald B; Puck, Jennifer M; Pai, Sung-Yun; Ballard, Barbara; Bauer, Sarah C; Bleesing, Jack J H; Boyle, Marcia; Brower, Amy; Buckley, Rebecca H; van der Burg, Mirjam; Burroughs, Lauri M; Candotti, Fabio; Cant, Andrew J; Chatila, Talal; Cunningham-Rundles, Charlotte; Dinauer, Mary C; Dvorak, Christopher C; Filipovich, Alexandra H; Fleisher, Thomas A; Bobby Gaspar, Hubert; Gungor, Tayfun; Haddad, Elie; Hovermale, Emily; Huang, Faith; Hurley, Alan; Hurley, Mary; Iyengar, Sumathi; Kang, Elizabeth M; Logan, Brent R; Long-Boyle, Janel R; Malech, Harry L; McGhee, Sean A; Modell, Fred; Modell, Vicki; Ochs, Hans D; O'Reilly, Richard J; Parkman, Robertson; Rawlings, David J; Routes, John M; Shearer, William T; Small, Trudy N; Smith, Heather; Sullivan, Kathleen E; Szabolcs, Paul; Thrasher, Adrian; Torgerson, Troy R; Veys, Paul; Weinberg, Kenneth; Zuniga-Pflucker, Juan Carlos

2014-02-01

The Primary Immune Deficiency Treatment Consortium (PIDTC) is a network of 33 centers in North America that study the treatment of rare and severe primary immunodeficiency diseases. Current protocols address the natural history of patients treated for severe combined immunodeficiency (SCID), Wiskott-Aldrich syndrome, and chronic granulomatous disease through retrospective, prospective, and cross-sectional studies. The PIDTC additionally seeks to encourage training of junior investigators, establish partnerships with European and other International colleagues, work with patient advocacy groups to promote community awareness, and conduct pilot demonstration projects. Future goals include the conduct of prospective treatment studies to determine optimal therapies for primary immunodeficiency diseases. To date, the PIDTC has funded 2 pilot projects: newborn screening for SCID in Navajo Native Americans and B-cell reconstitution in patients with SCID after hematopoietic stem cell transplantation. Ten junior investigators have received grant awards. The PIDTC Annual Scientific Workshop has brought together consortium members, outside speakers, patient advocacy groups, and young investigators and trainees to report progress of the protocols and discuss common interests and goals, including new scientific developments and future directions of clinical research. Here we report the progress of the PIDTC to date, highlights of the first 2 PIDTC workshops, and consideration of future consortium objectives. Published by Mosby, Inc.

Work-related psychosocial factors and onset of metabolic syndrome among workers: a systematic review and meta-analysis protocol

PubMed Central

Sakuraya, Asuka; Watanabe, Kazuhiro; Kawakami, Norito; Imamura, Kotaro; Ando, Emiko; Asai, Yumi; Eguchi, Hisashi; Kobayashi, Yuka; Nishida, Norimitsu; Arima, Hideaki; Shimazu, Akihito; Tsutsumi, Akizumi

2017-01-01

Introduction Metabolic syndrome is an important public health target because of its high prevalence worldwide. Work-related psychosocial factors have been identified as determinants of metabolic syndrome components. However, there have been no systematic reviews or meta-analyses conducted to evaluate the relationship between work-related psychosocial factors and metabolic syndrome as an aggregated cluster. The aim of this study is to examine this association from published prospective studies. Methods and analysis The systematic review and meta-analysis will be conducted using published studies that will be identified from electronic databases (ie, PubMed, EMBASE, PsycINFO, PsycARTICLES and Japan Medical Abstracts Society). Studies that (1) examined the association between work-related psychosocial factors and the onset of metabolic syndrome, (2) had a longitudinal or prospective cohort design, (3) were conducted among workers, (4) provided sufficient data for calculating ORs or relative risk with a 95% CI, (5) were published as original articles written in English or Japanese, and (6) having been published until the end of 2016 will be included. Study selection, data collection, quality assessment and statistical syntheses will be conducted based on discussions among investigators. Ethics and dissemination Ethics approval was not required for this study because it was based on published studies. The results and findings of this study will be submitted and published in a scientific peer-reviewed journal. The findings from this study could be useful for assessing metabolic syndrome risk factors in the workplace, and determining approaches for prevention of metabolic syndrome in the future. Trial registration number PROSPERO CRD42016039096 (http://www.crd.york.ac.uk/PROSPERO_REBRANDING/display_record.asp?ID=CRD42016039096) PMID:28645981

Effectiveness of electroacupuncture for polycystic ovary syndrome: study protocol for a randomized controlled trial.

PubMed

Chen, Jiao; Feng, Shuwei; Zeng, Jiuzhi; Wu, Xi; Yang, Mingxiao; Tang, Hongzhi; Fan, Huaying; Yang, Jie; Liang, Fanrong

2016-05-21

Whether electroacupuncture is effective for patients with polycystic ovary syndrome is still inconclusive. Therefore, this study aims to evaluate the add-on effects of electroacupuncture to conventional drugs for the treatment of polycystic ovary syndrome. This study is a two-center, open-labeled, randomized, controlled trial. A total of 116 eligible patients with polycystic ovary syndrome will be randomly allocated in a 1:1 ratio to the electroacupuncture plus clomiphene citrate group or to the clomiphene citrate group. Participants in the electroacupuncture plus clomiphene citrate group will receive electroacupuncture treatment in addition to clomiphene citrate capsules, whereas participants in the clomiphene citrate group will be prescribed clomiphene citrate capsules only. Electroacupuncture treatment will be performed from the fifth day of menstruation or withdrawal bleeding until the next menstruation, in three sessions per week for three menstrual cycles. The primary outcome is the ovulation rate. The secondary outcomes include the dominant follicle rate, mean number of dominant follicles, endometrial thickness, time point of ovulation, follicular size before ovulation, luteinizing hormone, estradiol level, and pregnancy rate. The measuring points for outcomes will be baseline and the completion of treatment. Any adverse events occurring during the trial process will be recorded. In addition, a quality-monitoring group independent from the research team will be set up to control the quality of the trial. The design and methodological rigor of this trial will allow for the collection of valuable data to evaluate the effectiveness of electroacupuncture for treating polycystic ovary syndrome. Therefore, this trial will contribute reliable evidence for use in clinical decision-making in acupuncture therapy of polycystic ovary syndrome as well as to future research in acupuncture for polycystic ovary syndrome. Chinese Clinical Trial Registry, ChiCTR-IOR-15007358 , registered on 26 October 2015.

Rituximab is not a "magic drug" in post-transplant recurrence of nephrotic syndrome.

PubMed

Grenda, Ryszard; Jarmużek, Wioletta; Rubik, Jacek; Piątosa, Barbara; Prokurat, Sylwester

2016-09-01

Pediatric patients with end-stage renal failure due to severe drug-resistant nephrotic syndrome are at risk of rapid recurrence after renal transplantation. Treatment options include plasmapheresis, high-dose of cyclosporine A/methylprednisolone and more recently-rituximab (anti-B CD20 monoclonal depleting antibody). We report five patients with immediate (1-2 days) post-transplant recurrence of nephrotic syndrome, treated with this kind of combined therapy including 2-4 weekly doses of 375 mg/m(2) of rituximab. Only two (of five) patients have showed full long-term remission, while the partial remission was seen in two cases, and no clinical effect at all was achieved in one patient. The correlation between B CD19 cells depletion and clinical effect was present in two cases only. Severe adverse events were present in two patients, including one fatal rituximab-related acute lung injury. The anti-CD20 monoclonal antibody may be not effective in all pediatric cases of rapid post-transplant recurrence of nephrotic syndrome, and benefit/risk ratio must be carefully balanced on individual basis before taking the decision to use this protocol. • nephrotic syndrome may recur immediately after renal transplantation • plasmapheresis combined with pharmacotherapy is used as rescue management • rituximab was reported as effective drug both in primary and post-transplant nephrotic syndrome What is New: • rituximab may not be effective is several cases of post-transplant nephrotic syndrome due to variety of underlying mechanisms of the disease, which may be or not be responsive to this drug • there may be no correlation between drug-induced depletion of specific B cells and clinical effect; this might suggest B-cell independent manner of rituximab action.

Work-related psychosocial factors and onset of metabolic syndrome among workers: a systematic review and meta-analysis protocol.

PubMed

Sakuraya, Asuka; Watanabe, Kazuhiro; Kawakami, Norito; Imamura, Kotaro; Ando, Emiko; Asai, Yumi; Eguchi, Hisashi; Kobayashi, Yuka; Nishida, Norimitsu; Arima, Hideaki; Shimazu, Akihito; Tsutsumi, Akizumi

2017-06-22

Metabolic syndrome is an important public health target because of its high prevalence worldwide. Work-related psychosocial factors have been identified as determinants of metabolic syndrome components. However, there have been no systematic reviews or meta-analyses conducted to evaluate the relationship between work-related psychosocial factors and metabolic syndrome as an aggregated cluster. The aim of this study is to examine this association from published prospective studies. The systematic review and meta-analysis will be conducted using published studies that will be identified from electronic databases (ie, PubMed, EMBASE, PsycINFO, PsycARTICLES and Japan Medical Abstracts Society). Studies that (1) examined the association between work-related psychosocial factors and the onset of metabolic syndrome, (2) had a longitudinal or prospective cohort design, (3) were conducted among workers, (4) provided sufficient data for calculating ORs or relative risk with a 95% CI, (5) were published as original articles written in English or Japanese, and (6) having been published until the end of 2016 will be included. Study selection, data collection, quality assessment and statistical syntheses will be conducted based on discussions among investigators. Ethics approval was not required for this study because it was based on published studies. The results and findings of this study will be submitted and published in a scientific peer-reviewed journal. The findings from this study could be useful for assessing metabolic syndrome risk factors in the workplace, and determining approaches for prevention of metabolic syndrome in the future. PROSPERO CRD42016039096 (http://www.crd.york.ac.uk/PROSPERO_REBRANDING/display_record.asp?ID=CRD42016039096). © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

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.

Immunosuppressive therapy in glomerular diseases: major accomplishment of Tadeusz Orłowski and his school.

PubMed

Smogorzewski, Mirosław J; Lao, Mieczysław; Gradowska, Liliana; Rowińska, Danuta; Rancewicz, Zofia

2009-05-01

Glomerulopathies are the third most common cause of end-stage renal failure. Immunosuppressive treatment of glomerulonephritis in a systematic way was introduced in Poland by Professor Tadeusz Orłowski in the early 1960s. The studies were conducted at the First Department of Medicine and at the Transplantation Institute of the Medical Academy in Warsaw in the years 1962-1988. This paper critically reviews the results of studies on the use of combined, triple-drug (prednisone/chlorambucil/azathioprine), immunosuppressive protocol in various pathological forms of glomerulopathies. We conclude that immunosuppressive protocols pioneered by Tadeusz Orłowski continue to be the backbone of the treatment of glomerulonephritis, especially the one with nephrotic syndrome, progressive impairment of kidney function and poor prognosis.

Development, implementation, and experimentation of parametric routing protocol for sensor networks

NASA Astrophysics Data System (ADS)

Nassr, Matthew S.; Jun, Jangeun; Eidenbenz, Stephan J.; Frigo, Janette R.; Hansson, Anders A.; Mielke, Angela M.; Smith, Mark C.

2006-09-01

The development of a scalable and reliable routing protocol for sensor networks is traced from a theoretical beginning to positive simulation results to the end of verification experiments in large and heavily loaded networks. Design decisions and explanations as well as implementation hurdles are presented to give a complete picture of protocol development. Additional software and hardware is required to accurately test the performance of our protocol in field experiments. In addition, the developed protocol is tested in TinyOS on Mica2 motes against well-established routing protocols frequently used in sensor networks. Our protocol proves to outperform the standard (MINTRoute) and the trivial (Gossip) in a variety of different scenarios.

DEVELOPMENT OF MODELING PROTOCOLS FOR USE IN DETERMINING SEDIMENT TMDLS

EPA Science Inventory

Modeling protocols for use in determining sediment TMDLs are being developed to provide the Office of Water, Regions and the States with assistance in determining TMDLs for sediment impaired water bodies. These protocols will supplement the protocols developed by the Office of W...

Acute Liver Failure During Deferasirox Chelation: A Toxicity Worth Considering.

PubMed

Menaker, Nathan; Halligan, Katharine; Shur, Natasha; Paige, John; Hickling, Matthew; Nepo, Anne; Weintraub, Lauren

2017-04-01

This case report details a unique case of acute, reversible liver failure in a 12-year-old male with sickle cell anemia on chronic transfusion protocol and deferasirox chelation. There is substantial literature documenting deferasirox-induced renal injury, including Fanconi syndrome, but less documentation of hepatic toxicity and few reports of hepatic failure. The case highlights the importance of close monitoring of ferritin, bilirubin, and transaminases for patients on deferasirox.

Nasal Irrigation for Chronic Rhinosinusitis and Fatigue in Patients with Gulf War Syndrome

DTIC Science & Technology

2014-07-01

xylitol has continued to provide daily use packets at no cost as indicated in the protocol and letter of support in the initial grant application...Pharmaceutical Research Center (PRC) which will be housing and dispensing all study medications ( Xylitol and Saline). We have final approval on all...recruitment strategies  Procurement of xylitol  Recruitment and enrollment of subjects 6 REPORTABLE OUTCOMES:  UW HS IRB continuing review

Anti-Mullerian hormone-tailored stimulation protocols improve outcomes whilst reducing adverse effects and costs of IVF.

PubMed

Yates, A P; Rustamov, O; Roberts, S A; Lim, H Y N; Pemberton, P W; Smith, A; Nardo, L G

2011-09-01

Anti-Müllerian hormone (AMH) is increasingly used to quantify ovarian reserve, but it has not yet realized its full clinical potential in assisted reproduction technology. We investigated the possible benefits of using novel, stratified ovarian hyperstimulation protocols, tailored to individual AMH levels, compared with conventional stimulation. Retrospective data were collected from 769 women (first cycle of IVF, using fresh embryos), in a UK tertiary care unit: 346 women using conventional stimulation protocols; 423 women treated under new AMH-tailored protocols. Embryo transfer rates increased significantly (79-87%: P= 0.002) after the introduction of AMH-tailored stimulation protocols. Pregnancy rate per cycle started and live birth rate also increased significantly compared with conventionally treated women (17.9-27.7%, P= 0.002 and 15.9-23.9%, P = 0.007, respectively). Moreover, in the AMH group, the incidence of the ovarian hyperstimulation syndrome (OHSS) fell significantly (6.9-2.3%, P = 0.002) and failed fertilization fell from 7.8 to 4.5%. The cost of fertility drug treatment fell by 29% per patient and the overall cost of clinical management of OHSS fell by 43% in the AMH group. GnRH antagonist protocols, introduced as part of AMH-tailored treatment, may have contributed to the observed improvements: however, within the AMH-tailored group, the live birth rate was not significantly different between agonist and antagonist-treated groups. Although large, prospective, multicentre studies are indicated, we have clearly demonstrated that individualized, AMH-guided, controlled ovarian hyperstimulation protocols significantly improved positive clinical outcomes, reduced the incidence of complications and reduced the financial burden associated with assisted reproduction.

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

Feasibility of Developing a Protocol for Automated Protist Analysis

DTIC Science & Technology

2010-03-01

Acquisition Directorate Research & Development Center Report No: CG-D-02-ll Feasibility of Developing a Protocol for Automated Protist Analysis...Technical Information Service, Springfield, VA 22161. March 2010 Homeland Security Feasibility of Developing a Protocol for Automated Protist ...March 21)10 Feasibility of Developing a Protocol for Automated Protist Analysis 00 00 o CM Technical Report Documentation Page 1. Report No CG-D

Influence of immediate post-extraction socket irrigation on development of alveolar osteitis after mandibular third molar removal: a prospective split-mouth study, preliminary report.

PubMed

Tolstunov, L

2012-12-01

The aim of this prospective comparative split-mouth study was to evaluate the role of socket irrigation with a normal saline solution routinely used at the end of extraction on the development of alveolar osteitis (AO) after removal of impacted mandibular third molars (MTMs). Thirty-five patients who satisfied the inclusion criteria were involved in the study and underwent extraction of four third-molars. To be included in the study, the mandibular third molars had to be impacted (partial or full bone) and require an osteotomy for extraction with use of a motorised drill. All surgeries were done under local anaesthesia or IV sedation. This was a prospective split-mouth study. The patient's left (assistant) side was a control side; it had a standard extraction technique of an impacted mandibular third molar that required a buccal full-thickness flap, buccal trough (osteotomy) and extraction of the tooth (with or without splitting the tooth into segments), followed by a traditional end-of-surgery debridement protocol consisting of a gentle curettage, bone filing of the socket walls, socket irrigation with approximately 5 ml of sterile normal saline solution and socket suctioning. The patient's right (operator) side was an experimental side; it also had a standard extraction technique of an impacted mandibular third molar at the beginning with a flap and osteotomy, but it was followed by a modified end-of-surgery protocol. It consisted of gentle curettage but the socket was not irrigated and not suctioned. It was simply left to bleed. The gauze was placed on top of the socket for haemostasis on both sides and the patient was asked to bite. On both sides, the buccal flap was positioned back without the suture. All patients were seen for a follow-up appointment four to seven days after the surgery to assess healing and check for symptoms and signs of alveolar osteitis, if present, on both irrigated and non-irrigated sides. This study followed the ethical guidelines of human subjects based on the Helsinki Declaration. Thirty-five patients or 70 sockets were evaluated. Eleven out of 35 patients in the study were subjected to a dry socket syndrome (31.4%). The higher number of AO was likely related to specifics of MTM selection in this study - only impacted (partial and full bone) MTMs were chosen. Among eleven patients with AO, two patients had a bilateral condition. By excluding two patients with bilateral dry sockets from the study, there were nine patients (18 extraction sites) with unilateral AO in the study. Seven out of nine patients (14 extraction sites) developed unilateral dry socket on the control (irrigated) side (77.8%) and only two (four extraction sites) on the experimental (non-irrigated) side (22.2%). Therefore, in this study there were 3.5 times more patients (extraction sites) with dry socket syndrome on the irrigated (control) side than patients (extraction sites) in the non-irrigated (experimental) side. A noticeable difference of dry socket syndromes (77.8% on the irrigated versus 22.2% on non-irrigated side) was demonstrated between the traditional extraction protocol versus modified approach without the end-of-surgery irrigation. The study demonstrated that the post-extraction socket bleeding is very important for the proper uncomplicated socket healing. If it's not washed away with irrigation solution at the end of extraction, the normal blood clot has a higher likelihood to form, and therefore, can potentially lead to an uncomplicated socket healing without development of alveolar osteitis. Socket bleeding at the extraction site creates a favourable environment for the formation of a blood clot - a protective dressing - necessary for a favourable osseous healing of the socket.

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…

Cleft Lip and Palate in CHARGE Syndrome: Phenotypic Features That Influence Management.

PubMed

Isaac, Kathryn V; Ganske, Ingrid M; Rottgers, Stephen A; Lim, So Young; Mulliken, John B

2018-03-01

Infants with syndromic cleft lip and/or cleft palate (CL/P) often require more complex care than their nonsyndromic counterparts. Our purpose was to (1) determine the prevalence of CL/P in patients with CHARGE syndrome and (2) highlight factors that affect management in this subset of children. This is a retrospective review from 1998 to 2016. Patients with CHARGE syndrome were diagnosed clinically and genetically. Prevalence of CL/P was determined and clinical details tabulated: phenotypic anomalies, cleft types, operative treatment, and results of repair. CHARGE syndrome was confirmed in 44 patients: 11 (25%) had cleft lip and palate and 1 had cleft palate only. Surgical treatment followed our usual protocols. Two patients with cardiac anomalies had prolonged recovery following surgical correction, necessitating palatal closure prior to nasolabial repair. One of these patients was too old for dentofacial orthopedics and underwent combined premaxillary setback and palatoplasty, prior to labial closure. Velopharyngeal insufficiency was frequent (n = 3/7). All patients had feeding difficulty and required a gastrostomy tube. All patients had neurosensory hearing loss; anomalies of the semicircular canals were frequent (n = 3/4). External auricular anomalies, colobomas, and cardiovascular anomalies were also common (n = 8/11). Other associated anomalies were choanal atresia (n = 4/11) and tracheoesophageal fistula (n = 2/11). CHARGE syndrome is an under-recognized genetic cause of cleft lip and palate. Hearing loss and speech and feeding difficulties often occur in these infants. Diagnosis can be delayed if the child presents with covert phenotypic features, such as chorioretinal colobomas, semicircular canal hypoplasia, and unilateral choanal atresia.

Systematization of clinical trials related to treatment of metabolic syndrome, 1980-2015.

PubMed

Cardona Velásquez, Santiago; Guzmán Vivares, Laura; Cardona-Arias, Jaiberth Antonio

2017-02-01

Despite the clinical, epidemiological, and economic significance of metabolic syndrome, the profile of clinical trials on this disease is unknown. To characterize the clinical trials related to treatment of metabolic syndrome during the 1980-2015 period. Systematic review of the literature using an ex ante search protocol which followed the phases of the guide Preferred Reporting Items for Systematic Reviews and Meta-Analyses in four multidisciplinary databases with seven search strategies. Reproducibility and methodological quality of the studies were assessed. One hundred and six trials were included, most from the United States, Italy, and Spain, of which 63.2% evaluated interventions effective for several components of the syndrome such as diet (40.6%) or physical activity (22.6%). Other studies assessed drugs for a single factor such as hypertension (7.5%), hypertriglyceridemia (11.3%), or hyperglycemia (9.4%). Placebo was used as control in 54.7% of trials, and outcome measures included triglycerides (52.8%), HDL (48.1%), glucose (29.2%), BMI (33.0%), blood pressure (27.4%), waist circumference (26.4%), glycated hemoglobin (11.3%), and hip circumference (7.5%). It was shown that studies ob efficacy of treatment for metabolic syndrome are scarce and have mainly been conducted in the last five years and in high-income countries. Trials on interventions that affect three or more factors and assess several outcome measures are few, and lifestyle interventions (diet and physical activity) are highlighted as most important to impact on this multifactorial syndrome. Copyright © 2017 SEEN. Publicado por Elsevier España, S.L.U. All rights reserved.

Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome.

PubMed

Rachmiel, Adi; Turgeman, Shahar; Emodi, Omri; Aizenbud, Dror; Shilo, Dekel

2018-02-01

Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia. Patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome suffer from a severely hypoplastic maxilla that is highly difficult to treat using traditional orthognathic methods. In this study, we propose using distraction osteogenesis to achieve a major advancement while maintaining good stability and minimal relapse. To our knowledge, this is the first description of patients with this syndrome treated using distraction osteogenesis. Five patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome were included in the study. All patients had been operated on according to the well-established protocol of cleft lip and palate reconstruction before maxillary distraction osteogenesis. Hard and soft-tissue changes were evaluated by cone beam computed tomography and lateral cephalograms before distraction osteogenesis (T1), at the postdistraction point (T2) and after 1 year of follow-up (T3). Examination revealed marked maxillary advancement in all our patients with a significant mean difference in hard tissue parameters (condylion to A point = 18 mm; nasion-sella line to A point = 15.2 degrees) and a notable improvement in facial convexity (20.9 degrees). One year follow-up measurements demonstrated mild relapse rates of 6% in the horizontal plane. We conclude that despite the challenging anatomic and physiological features of ectrodactyly ectodermal dysplasia-cleft patients, by enhancing current surgical techniques, there is promising potential for improved patient outcomes, achieving normognathic facial appearance with implant supported rehabilitation.

Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome

PubMed Central

Rachmiel, Adi; Emodi, Omri; Aizenbud, Dror; Shilo, Dekel

2018-01-01

Background: Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia. Patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome suffer from a severely hypoplastic maxilla that is highly difficult to treat using traditional orthognathic methods. In this study, we propose using distraction osteogenesis to achieve a major advancement while maintaining good stability and minimal relapse. To our knowledge, this is the first description of patients with this syndrome treated using distraction osteogenesis. Methods: Five patients diagnosed with ectrodactyly ectodermal dysplasia-cleft syndrome were included in the study. All patients had been operated on according to the well-established protocol of cleft lip and palate reconstruction before maxillary distraction osteogenesis. Hard and soft-tissue changes were evaluated by cone beam computed tomography and lateral cephalograms before distraction osteogenesis (T1), at the postdistraction point (T2) and after 1 year of follow-up (T3). Results: Examination revealed marked maxillary advancement in all our patients with a significant mean difference in hard tissue parameters (condylion to A point = 18 mm; nasion-sella line to A point = 15.2 degrees) and a notable improvement in facial convexity (20.9 degrees). One year follow-up measurements demonstrated mild relapse rates of 6% in the horizontal plane. Conclusions: We conclude that despite the challenging anatomic and physiological features of ectrodactyly ectodermal dysplasia-cleft patients, by enhancing current surgical techniques, there is promising potential for improved patient outcomes, achieving normognathic facial appearance with implant supported rehabilitation. PMID:29616174

Assessment of resuscitation as measured by markers of metabolic acidosis and features of injury.

PubMed

Weinberg, D S; Narayanan, A S; Moore, T A; Vallier, H A

2017-01-01

The best time for definitive orthopaedic care is often unclear in patients with multiple injuries. The objective of this study was make a prospective assessment of the safety of our early appropriate care (EAC) strategy and to evaluate the potential benefit of additional laboratory data to determine readiness for surgery. A cohort of 335 patients with fractures of the pelvis, acetabulum, femur, or spine were included. Patients underwent definitive fixation within 36 hours if one of the following three parameters were met: lactate < 4.0 mmol/L; pH ≥ 7.25; or base excess (BE) ≥ -5.5 mmol/L. If all three parameters were met, resuscitation was designated full protocol resuscitation (FPR). If less than all three parameters were met, it was designated an incomplete protocol resuscitation (IPR). Complications were assessed by an independent adjudication committee and included infection; sepsis; PE/DVT; organ failure; pneumonia, and acute respiratory distress syndrome (ARDS). In total, 66 patients (19.7%) developed 90 complications. An historical cohort of 1441 patients had a complication rate of 22.1%. The complication rate for patients with only one EAC parameter at the point of protocol was 34.3%, which was higher than other groups (p = 0.041). Patients who had IPR did not have significantly more complications (31.8%) than those who had FPR (22.6%; p = 0.078). Regression analysis showed male gender and injury severity score to be independent predictors of complications. This study highlights important trends in the IPR and FPR groups, suggesting that differences in resuscitation parameters may guide care in certain patients; further study is, however, required. We advocate the use of the existing protocol, while research is continued for high-risk subgroups. Cite this article: Bone Joint J 2017;99-B:122-7. ©2017 The British Editorial Society of Bone & Joint Surgery.

Supporting Tablet Configuration, Tracking, and Infection Control Practices in Digital Health Interventions: Study Protocol.

PubMed

Furberg, Robert D; Ortiz, Alexa M; Zulkiewicz, Brittany A; Hudson, Jordan P; Taylor, Olivia M; Lewis, Megan A

2016-06-27

Tablet-based health care interventions have the potential to encourage patient care in a timelier manner, allow physicians convenient access to patient records, and provide an improved method for patient education. However, along with the continued adoption of tablet technologies, there is a concomitant need to develop protocols focusing on the configuration, management, and maintenance of these devices within the health care setting to support the conduct of clinical research. Develop three protocols to support tablet configuration, tablet management, and tablet maintenance. The Configurator software, Tile technology, and current infection control recommendations were employed to develop three distinct protocols for tablet-based digital health interventions. Configurator is a mobile device management software specifically for iPhone operating system (iOS) devices. The capabilities and current applications of Configurator were reviewed and used to develop the protocol to support device configuration. Tile is a tracking tag associated with a free mobile app available for iOS and Android devices. The features associated with Tile were evaluated and used to develop the Tile protocol to support tablet management. Furthermore, current recommendations on preventing health care-related infections were reviewed to develop the infection control protocol to support tablet maintenance. This article provides three protocols: the Configurator protocol, the Tile protocol, and the infection control protocol. These protocols can help to ensure consistent implementation of tablet-based interventions, enhance fidelity when employing tablets for research purposes, and serve as a guide for tablet deployments within clinical settings.

The Development of Route Learning in Down Syndrome, Williams Syndrome and Typical Development: Investigations with Virtual Environments

ERIC Educational Resources Information Center

Purser, Harry R. M.; Farran, Emily K.; Courbois, Yannick; Lemahieu, Axelle; Sockeel, Pascal; Mellier, Daniel; Blades, Mark

2015-01-01

The ability to navigate new environments has a significant impact on the daily life and independence of people with learning difficulties. The aims of this study were to investigate the development of route learning in Down syndrome (N = 50), Williams syndrome (N = 19), and typically developing children between 5 and 11 years old (N = 108); to…

Role of ART in Imprinting Disorders

PubMed Central

Eroglu, Ali; Layman, Lawrence C.

2013-01-01

Assisted reproductive technologies (ART) offer revolutionary infertility treatments for millions of childless couples around the world. Currently, ART accounts for 1 to 3% of annual births in industrialized countries and continues to expand rapidly. Except for an increased incidence of premature births, these technologies are considered safe. However, new evidence published during the past decade has suggested an increased incidence of imprinting disorders in children conceived by ART. Specifically, an increased risk was reported for Beckwith-Wiedemann syndrome (BWS), Angelman syndrome (AS), Silver-Russell syndrome, and retinoblastoma. In contrast, some studies have found no association between ART and BWS, AS, Prader-Willi syndrome, transient neonatal diabetes mellitus, and retinoblastoma. The variability in ART protocols and the rarity of imprinting disorders complicate determining the causative relationship between ART and an increased incidence of imprinting disorders. Nevertheless, compelling experimental data from animal studies also suggest a link between increased imprinting disorders and ART. Further comprehensive, appropriately powered studies are needed to better address the magnitude of the risk for ART-associated imprinting disorders. Large longitudinal studies are particularly critical to evaluate long-term effects of ART not only during the perinatal period but also into adulthood. An important consideration is to determine if the implicated association between ART and imprinting disorders is actually related to the procedures or to infertility itself. PMID:22549709

Heart Activity and Autistic Behavior in Infants and Toddlers with Fragile X Syndrome

ERIC Educational Resources Information Center

Roberts, Jane E.; Tonnsen, Bridgette; Robinson, Ashley; Shinkareva, Svetlana V.

2012-01-01

The present study contrasted physiological arousal in infants and toddlers with fragile X syndrome to typically developing control participants and examined physiological predictors early in development to autism severity later in development in fragile X syndrome. Thirty-one males with fragile X syndrome (ages 8-40 months) and 25 age-matched…

Molecular approach to genetic and epigenetic pathogenesis of early-onset colorectal cancer

PubMed Central

Tezcan, Gulcin; Tunca, Berrin; Ak, Secil; Cecener, Gulsah; Egeli, Unal

2016-01-01

Colorectal cancer (CRC) is the third most frequent cancer type and the incidence of this disease is increasing gradually per year in individuals younger than 50 years old. The current knowledge is that early-onset CRC (EOCRC) cases are heterogeneous population that includes both hereditary and sporadic forms of the CRC. Although EOCRC cases have some distinguishing clinical and pathological features than elder age CRC, the molecular mechanism underlying the EOCRC is poorly clarified. Given the significance of CRC in the world of medicine, the present review will focus on the recent knowledge in the molecular basis of genetic and epigenetic mechanism of the hereditary forms of EOCRC, which includes Lynch syndrome, Familial CRC type X, Familial adenomatous polyposis, MutYH-associated polyposis, Juvenile polyposis syndrome, Peutz-Jeghers Syndrome and sporadic forms of EOCRC. Recent findings about molecular genetics and epigenetic basis of EOCRC gave rise to new alternative therapy protocols. Although exact diagnosis of these cases still remains complicated, the present review paves way for better predictions and contributes to more accurate diagnostic and therapeutic strategies into clinical approach. PMID:26798439

Mother-child play: children with Down syndrome and typical development.

PubMed

Venuti, P; de Falco, S; Esposito, G; Bornstein, Marc H

2009-07-01

Child solitary and collaborative mother-child play with 21 children with Down syndrome and 33 mental-age-matched typically developing children were compared. In solitary play, children with Down syndrome showed less exploratory but similar symbolic play compared to typically developing children. From solitary to collaborative play, children with Down syndrome increased their exploratory play, attaining the same level as typically developing children. Pretense significantly increased from solitary to collaborative play only in typically developing children. Differences between mothers' play in the two groups mirrored those between their children. Both groups showed similar attunement and synchrony. Mothers contribute to the play development of children with Down syndrome through their own adaptation to their children's limitations and potentialities.

Combined Heat and Power Protocol for Uniform Methods Project | Advanced

Science.gov Websites

Manufacturing Research | NREL Combined Heat and Power Protocol for Uniform Methods Project Combined Heat and Power Protocol for Uniform Methods Project NREL developed a protocol that provides a ; is consistent with the scope and other protocols developed for the Uniform Methods Project (UMP

Satellite Communications Using Commercial Protocols

NASA Technical Reports Server (NTRS)

Ivancic, William D.; Griner, James H.; Dimond, Robert; Frantz, Brian D.; Kachmar, Brian; Shell, Dan

2000-01-01

NASA Glenn Research Center has been working with industry, academia, and other government agencies in assessing commercial communications protocols for satellite and space-based applications. In addition, NASA Glenn has been developing and advocating new satellite-friendly modifications to existing communications protocol standards. This paper summarizes recent research into the applicability of various commercial standard protocols for use over satellite and space- based communications networks as well as expectations for future protocol development. It serves as a reference point from which the detailed work can be readily accessed. Areas that will be addressed include asynchronous-transfer-mode quality of service; completed and ongoing work of the Internet Engineering Task Force; data-link-layer protocol development for unidirectional link routing; and protocols for aeronautical applications, including mobile Internet protocol routing for wireless/mobile hosts and the aeronautical telecommunications network protocol.

Should the diagnostic and therapeutic protocols for adrenal incidentalomas be changed?

PubMed

Mateo-Gavira, Isabel; Vilchez-López, Francisco Javier; Larrán-Escandón, Laura; Ojeda-Schuldt, María Belén; Tinoco, Cristina López; Aguilar-Diosdado, Manuel

2015-01-01

The prevalence of adrenal incidentalomas is increasing with the aging of the population and the use of high resolution imaging technics. Current protocols propose a comprehensive monitoring of their functional and morphological state, but with no conclusive clinical evidence that endorses it. Retrospective study of 96 patients diagnosed with adrenal incidentaloma between 2008 and 2012. We evaluated clinical, functional and imaging at baseline and during follow-up. Initially, 9 cases were surgically removed: 4 due to hyperfunction (2 Cushing syndromes and 2 pheochromocytomas) and 5 due to size larger than 4cm. During follow-up one case of pheochromocytoma was diagnosed and another grew more than 1cm, needing surgery. In 98.86% of nonfunctional and benign lesions, there was no functional and/or morphological changes in the final evaluation. The results of our study challenge the validity of current diagnostic-therapeutic protocols of incidentalomas, which should be reassessed in prospective studies taking into account efficiency characteristics. Copyright © 2013 AEC. Publicado por Elsevier España, S.L.U. All rights reserved.

Supporting Tablet Configuration, Tracking, and Infection Control Practices in Digital Health Interventions: Study Protocol

PubMed Central

Furberg, Robert D; Zulkiewicz, Brittany A; Hudson, Jordan P; Taylor, Olivia M; Lewis, Megan A

2016-01-01

Background Tablet-based health care interventions have the potential to encourage patient care in a timelier manner, allow physicians convenient access to patient records, and provide an improved method for patient education. However, along with the continued adoption of tablet technologies, there is a concomitant need to develop protocols focusing on the configuration, management, and maintenance of these devices within the health care setting to support the conduct of clinical research. Objective Develop three protocols to support tablet configuration, tablet management, and tablet maintenance. Methods The Configurator software, Tile technology, and current infection control recommendations were employed to develop three distinct protocols for tablet-based digital health interventions. Configurator is a mobile device management software specifically for iPhone operating system (iOS) devices. The capabilities and current applications of Configurator were reviewed and used to develop the protocol to support device configuration. Tile is a tracking tag associated with a free mobile app available for iOS and Android devices. The features associated with Tile were evaluated and used to develop the Tile protocol to support tablet management. Furthermore, current recommendations on preventing health care–related infections were reviewed to develop the infection control protocol to support tablet maintenance. Results This article provides three protocols: the Configurator protocol, the Tile protocol, and the infection control protocol. Conclusions These protocols can help to ensure consistent implementation of tablet-based interventions, enhance fidelity when employing tablets for research purposes, and serve as a guide for tablet deployments within clinical settings. PMID:27350013

Colorectal Cancer Risk in Patients With Lynch Syndrome and Inflammatory Bowel Disease.

PubMed

Derikx, Lauranne A A P; Smits, Lisa J T; van Vliet, Shannon; Dekker, Evelien; Aalfs, Cora M; van Kouwen, Mariëtte C A; Nagengast, Fokko M; Nagtegaal, Iris D; Hoogerbrugge, Nicoline; Hoentjen, Frank

2017-03-01

Lynch syndrome and inflammatory bowel diseases (IBD) are associated with an increased risk of colorectal cancer (CRC). However, it is not clear whether the risk of CRC is even higher for patients with a combination of Lynch syndrome and IBD. We investigated the risk for CRC in this subgroup by establishing a Lynch syndrome cohort from the Radboud University Medical Center (Nijmegen, The Netherlands) and the Academic Medical Center (Amsterdam, The Netherlands). Patients with heterozygous germline mutations in MLH1, MSH2 (and EPCAM deletion-mediated MSH2 methylation), MSH6, or PMS2 who were tested and/or treated from 1998 through 2014 were included. Patients who developed IBD were identified by linkage of this cohort to the Dutch nationwide Pathology Registry (PALGA). Subsequently, we compared the risk of CRC between Lynch syndrome patients with IBD and without IBD. Of 1046 patients with Lynch syndrome, 15 developed IBD (1.4%). Patients with Lynch syndrome and IBD were significantly younger (median age, 38.0 y) than patients with Lynch syndrome without IBD (median age, 52.0 y; P = .001). Nevertheless, a similar proportion of patients in each group developed CRC: 4 of the 15 patients (26.7%) with Lynch syndrome and IBD compared with 311 of the 1031 patients (30.2%) with Lynch syndrome without IBD. Patients with Lynch syndrome and IBD developed CRC at a younger age (median age, 36.0 y) than patients with Lynch syndrome without IBD (median age, 46.0 y; P = .045). However, the cumulative incidence of CRC was similar between groups (P = .121). All patients with Lynch syndrome and IBD who developed CRC had ulcerative colitis, producing a higher cumulative incidence of CRC for this IBD subgroup (P < .001). In conclusion, patients with Lynch syndrome and IBD develop CRC risk at a younger age than patients without IBD; patients with ulcerative colitis are at especially high risk. Copyright © 2017 AGA Institute. Published by Elsevier Inc. All rights reserved.

Primary Sjogren's syndrome with central nervous system involvement.

PubMed

Alhomoud, Iftetah A; Bohlega, Saeed A; Alkawi, Mohammed Z; Alsemari, Abdulaziz M; Omer, Saleh M; Alsenani, Fahmi M

2009-08-01

To describe the clinical, laboratory, and radiological features of Primary Sjogren's syndrome (PSS) with central nervous system (CNS) involvement. A retrospective case series of 12 female patients with PSS and CNS involvement at King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia from 1991-2009. The diagnosis of PSS is defined by the American-European Diagnostic Criteria. We analyzed the clinical, radiological, and immunological features. The mean age was 40 years (range 16-58 years); all patient were females and presented with active neurological symptoms. The neurological involvement preceded the classic sicca symptoms (33%). Eight patients (66%) presented with myelopathy, 9 patients (75%) had optic neuritis, and the rest had variable neurological signs. Immunological tests (anti-Sjogren's syndrome A and anti-Sjogren's syndrome B) were high in 7 patients (58%). Minor salivary gland biopsy revealed inflammatory cell infiltrate in 11 patients (92%). Brain MRI showed scattered white matter changes in 7 patients (58%). Spine MRI showed multiple foci of hyperintensity in T2-weighted image in 6 patients (50%), and long segment of hyperintensity at the cervical spinal cord in 2 patients (16%). Our findings demonstrate that CNS involvements in PSS have great clinical variability and could precede the classic sicca symptoms by years. Primary Sjogren's syndrome can mimic multiple sclerosis (primary progressive multiple sclerosis or relapsing remitting multiple sclerosis), therefore a screening test for PSS should be considered in suspected cases. A well-defined management protocol awaits studies with larger case numbers.

Transabdominal cerclage: the significance of dual pathology and increased preterm delivery.

PubMed

Farquharson, Roy G; Topping, Joanne; Quenby, Siobhan M

2005-10-01

Transabdominal cerclage is a recognised treatment for cervical weakness with a history of recurrent mid-trimester loss and a failed elective vaginal suture. The emergence of dual pathology, such as antiphospholipid syndrome and bacterial vaginosis, is associated with an increased risk of preterm delivery (RR 2.34, 95% CI 1.15-5.8). The first 40 cases are described where strict adherence to an investigation protocol and consistent treatment plan has been implemented.

Near-infrared Spectroscopy to Reduce Prophylactic Fasciotomies for and Missed Cases of Acute Compartment Syndrome in Soldiers Injured in OEF/OIF

DTIC Science & Technology

2012-10-01

studies demonstrated that NIRS measurement of hemoglobin oxygen saturation in the tibial compartment provided reliable and sensitive correlation to...pressure increases with muscle damage, there is not a complete loss of tissue oxygen saturation in the tissue over the 14 hours of the protocol. In...allow greater detail of information and flexibility in the analysis of tissue oxygenation levels. Although the 7610 oximeter has not been

Nasal Irrigation for Chronic Rhinosinusitis and Fatigue in Patients with Gulf War Syndrome

DTIC Science & Technology

2013-07-01

materials (neti pots, xylitol , saline), and subject recruitment and enrollment. The human subjects research approval process required protocol submission...application submitted on 11/25/11 was also approved on 7/10/12. The company that provided xylitol (Danisco) is now owned by a private company (DuPont) a...regarding continuity of study as well as procurement and packaging of xylitol packets (sachets) for individual use by participants in the xylitol arm of

Investigation of Crimean-Congo Hemorrhagic Fever and Hemorrhagic Fever with Renal Syndrome in Greece

DTIC Science & Technology

1993-12-20

collect a 24-h urine sample, wich was sent to the laboratory for total protein excretion, electrolytes, uric acid , 3 and creatinine measurements. On...electrolytes, uric acid , total protein, and globulins was also obtained. Urinary comcentrating ability was studied using the protocol of Gyory et al., in...Electrolytes in sera and urine were determined by flame photometry, and creatinine by the method of Hare. Urice acid was determined by a uricase method

Clomiphene citrate before and after withdrawal bleeding for induction of ovulation in women with polycystic ovary syndrome: Randomized cross-over trial.

PubMed

Elbohoty, Ahmed E H; Amer, Mohamed; Abdelmoaz, Mohamed

2016-08-01

To compare the ovarian response to early versus late clomiphene citrate (CC) in women with polycystic ovary syndrome (PCOS). This cross-over randomized controlled clinical trial included 90 infertile amenorrheic women with PCOS. After inducing withdrawal bleeding, patients were randomly divided into two equal groups to receive ovulation induction with CC 100 mg/day for 5 days. Group I started treatment the next day after finishing medroxyprogesterone acetate course for a menstrual cycle, and after a washout period of another menstrual cycle, the treatment was shifted to start on day 2 of withdrawal bleeding. Group II received a reversed protocol: late then early treatment. Women were followed up on transvaginal ultrasonography to monitor follicular growth, endometrial thickness and evidence of ovulation. Human chorionic gonadotropin 10 000 IU was given i.m. to trigger ovulation when at least one mature follicle measured ≥18 mm at day 14. In all cases, early induction protocol resulted in significantly higher proportion of ovulating patients, thicker endometrium and higher number of follicles 14-17 mm in diameter, ≥ 18 mm in diameter and total number of follicles (P < 0.001 for all comparisons). In women with PCOS, early initiation of CC before withdrawal bleeding or during the last days of the luteal phase can achieve a better ovulatory response. © 2016 Japan Society of Obstetrics and Gynecology.

POST‐SURGICAL REHABILITATION FOLLOWING FASCIOTOMIES FOR BILATERAL CHRONIC EXERTIONAL COMPARTMENT SYNDROME IN A SPECIAL FORCES SOLDIER: A CASE REPORT

PubMed Central

Miller, Joseph

2013-01-01

Background and Purpose: The etiology of Chronic Exertional Compartment Syndrome (CECS) is still unclear. The most commonly accepted theory suggests that it is a transient but debilitating process where there is an abnormally increased intracompartmental pressure during exercise/exertion due to non‐compliant expansion of the osteofascial tissues. This most commonly occurs in the lower leg. Surgical intervention is often performed for symptom relief. However, there has been limited scientifically‐based publication on post‐surgical rehabilitation, especially with regard to return to function in the military population. The purpose of this case report is to demonstrate the utilization of a recommended post‐operative protocol in a Special Forces Soldier. Case Description: The subject presented as a 25‐year‐old US Army Special Forces Soldier, who failed 8 weeks of conservative management for the diagnosis of CECS and subsequently underwent bilateral lower leg fasciotomies of the anterior and lateral compartments. Outcomes: Following recommended protocol guidelines he was progressed rapidly and within three months deployed without restriction or complications in a demanding combat zone. Discussion: This case report illustrates that following clearly defined, scientifically‐based rehabilitation guidelines helped in addressing all of the involved structures and musculoskeletal dysfunctions that presented following the surgical intervention for CECS in a unique subject. Level of Evidence: 5 PMID:24175149

Effectiveness of different exercises and stretching physiotherapy on pain and movement in patellofemoral pain syndrome: a randomized controlled trial.

PubMed

Moyano, F Revelles; Valenza, M C; Martin, L Martin; Caballero, Y Castellote; Gonzalez-Jimenez, E; Demet, G Valenza

2013-05-01

To compare the effectiveness of proprioceptive neuromuscular facilitation combined with exercise, classic stretching physiotherapy intervention, and educational intervention at improving patient function and pain in patients with patellofemoral pain syndrome. Randomized, controlled, blind trial over four months. Urban population, Spain. Patients undergoing primary care for retropatellar pain. Subjects were allocated on three different treatment options: a proprioceptive neuromuscular facilitation and aerobic exercise group, a classic stretching group, and a control treatment were applied over four months under the supervision of a physiotherapist. Knee Society Score, pain reported (Visual analogue scale) and knee range of motion. Assessments were completed at baseline and after four months. 74 patients were enrolled in the study and distributed between groups. Both the proprioceptive neuromuscular facilitation and classic stretching group showed significant changes in all variables after four months intervention (p < 0.001). The difference in mean Kujala knee score changes between groups (classic stretching group vs. proprioceptive neuromuscular facilitation group vs. control group) at four months was -24.05 (95% confidence interval (CI) -30.19, -17.90), p ≤ 0.001; vs. -39.03 (95% confidence interval (CI) -42.5, -35.5), p ≤ 0.001; vs. -0.238 (95% confidence interval (CI) -1.2, 0.726), p = 0.621, respectively. A proprioceptive neuromuscular facilitation intervention protocol combined with aerobic exercise showed a better outcome than a classic stretching protocol after four months.

A qualitative investigation of eating difficulties in adolescents with chronic fatigue syndrome/myalgic encephalomyelitis.

PubMed

Harris, Sarah; Gilbert, Matthew; Beasant, Lucy; Linney, Catherine; Broughton, Jessica; Crawley, Esther

2017-01-01

An estimated 10% of children and adolescents with chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) experience eating difficulties; however, little is known about why these difficulties develop, what the impact is or how to manage them. Semi-structured interviews were conducted with adolescents (aged 12-17 years) attending a specialist service who have a primary diagnosis of CFS/ME and experience nausea, abdominal pain and/or eating difficulties. A total of 11 adolescents were interviewed (eight female, mean age: 15 years). Transcripts were analysed thematically using techniques of constant comparison which commenced soon after data collection and informed further interview protocols. Adolescents perceived their eating difficulties were caused by abdominal symptoms, being too fatigued to eat and changes to their senses of taste and smell. Some of the adolescents recognised how their eating difficulties were exacerbated and maintained by psychological factors of low mood and anxiety. The adolescents eating difficulties had a negative impact on their weight, fatigue, socialising and family life. They perceived helpful interventions to include modifying their diets, families adjusting and also medical interventions (e.g. medication). Adolescents identified that early education and support about diet and eating habits would have been helpful. If adolescents diagnosed with CFS/ME develop eating difficulties, this has a significant impact on their quality of life, illness and on their families. Not eating increases fatigue, low mood and anxiety which further exacerbates the eating difficulties. Clinicians should screen for eating difficulties in those with symptoms of nausea and abdominal pain, warn adolescents and their families of the risk of developing eating difficulties and provide interventions and support as early as possible.

A qualitative investigation of eating difficulties in adolescents with chronic fatigue syndrome/myalgic encephalomyelitis

PubMed Central

Harris, Sarah; Gilbert, Matthew; Beasant, Lucy; Linney, Catherine; Broughton, Jessica; Crawley, Esther

2016-01-01

Background: An estimated 10% of children and adolescents with chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) experience eating difficulties; however, little is known about why these difficulties develop, what the impact is or how to manage them. Methods: Semi-structured interviews were conducted with adolescents (aged 12–17 years) attending a specialist service who have a primary diagnosis of CFS/ME and experience nausea, abdominal pain and/or eating difficulties. A total of 11 adolescents were interviewed (eight female, mean age: 15 years). Transcripts were analysed thematically using techniques of constant comparison which commenced soon after data collection and informed further interview protocols. Results: Adolescents perceived their eating difficulties were caused by abdominal symptoms, being too fatigued to eat and changes to their senses of taste and smell. Some of the adolescents recognised how their eating difficulties were exacerbated and maintained by psychological factors of low mood and anxiety. The adolescents eating difficulties had a negative impact on their weight, fatigue, socialising and family life. They perceived helpful interventions to include modifying their diets, families adjusting and also medical interventions (e.g. medication). Adolescents identified that early education and support about diet and eating habits would have been helpful. Conclusions: If adolescents diagnosed with CFS/ME develop eating difficulties, this has a significant impact on their quality of life, illness and on their families. Not eating increases fatigue, low mood and anxiety which further exacerbates the eating difficulties. Clinicians should screen for eating difficulties in those with symptoms of nausea and abdominal pain, warn adolescents and their families of the risk of developing eating difficulties and provide interventions and support as early as possible. PMID:27215228

Impaired induction of long-term potentiation-like plasticity in patients with high-functioning autism and Asperger syndrome.

PubMed

Jung, Nikolai H; Janzarik, Wibke G; Delvendahl, Igor; Münchau, Alexander; Biscaldi, Monica; Mainberger, Florian; Bäumer, Tobias; Rauh, Reinhold; Mall, Volker

2013-01-01

We aimed to investigate the induction of long-term potentiation (LTP)-like plasticity by paired associative stimulation (PAS) in patients with high-functioning autism and Asperger syndrome (HFA/AS). PAS with an interstimulus interval between electrical and transcranial magnetic stimulation of 25 ms (PAS(25)) was performed in patients with HFA/AS (n=9; eight males, one female; mean age 17 y 11 mo, SD 4 y 5 mo) and in typically developing age-matched volunteers (n=9; five males, four females; mean age 22 y 4 mo, SD 5 y 2 mo). The amplitude of motor-evoked potentials was measured before PAS(25), immediately after stimulation, and 30 minutes and 60 minutes later. A PAS protocol adapted to individual N20 latency (PAS(N20+2)) was performed in six additional patients with HFA/AS. Short-interval intracortical inhibition was measured using paired-pulse stimulation. In contrast to the typically developing participants, the patients with HFA/AS did not show a significant increase in motor-evoked potentials after PAS(25). This finding could also be demonstrated after adaptation for N20 latency. Short-interval intracortical inhibition of patients with HFA/AS was normal compared with the comparison group and did not correlate with PAS effect. Our results show a significant impairment of LTP-like plasticity induced by PAS in individuals with HFA/AS compared with typically developing participants. This finding is in accordance with results from animal studies as well as human studies. Impaired LTP-like plasticity in patients with HFA/AS points towards reduced excitatory synaptic connectivity and deficits in sensory-motor integration in these patients. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

Metabolic syndrome in the non-pregnant state is associated with the development of preeclampsia.

PubMed

Cho, Geum Joon; Park, Jong Heon; Shin, Soon-Ae; Oh, Min-Jeong; Seo, Hong Seog

2016-01-15

The aim of this study was to investigate the association between metabolic syndrome in the non-pregnant state and the development of preeclampsia. We enrolled 212,463 Korean women who had their first delivery between January, 2011 and December, 2012 and had undergone a national health screening examination through the National Health Insurance during the 1-2 years before their first delivery. Women who had hypertension in the non-pregnant state were excluded. The presence of metabolic syndrome was defined using the modified criteria published in National Cholesterol Education Program Adult Treatment Panel III criteria. The prevalence of metabolic syndrome in non-pregnant state was 1.2%. Preeclampsia developed in 3.1% and its prevalence among women with and without metabolic syndrome was 7.3% and 3.0%, respectively. The pre-pregnancy prevalence of metabolic syndrome was higher in women who developed preeclampsia compared to that in those who had a normal pregnancy (1.1% vs. 2.8%; p<0.001). On multivariate regression analysis, women with metabolic syndrome had an increased risk of developing preeclampsia (odds ratio: 1.48; 95% CI: 1.26 to 1.74) compared to that in those without metabolic syndrome, after adjusting for age, family history of hypertension, smoking status, and pre-pregnancy body mass index. The risk of preeclampsia increased with a rise in the number of components of metabolic syndrome. Metabolic syndrome in the non-pregnant state was associated with the development of preeclampsia. Further studies are needed to evaluate whether early intervention for metabolic syndrome before pregnancy can decrease the risk of developing preeclampsia. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Variability in usual care mechanical ventilation for pediatric acute lung injury: the potential benefit of a lung protective computer protocol.

PubMed

Khemani, Robinder G; Sward, Katherine; Morris, Alan; Dean, J Michael; Newth, Christopher J L

2011-11-01

Although pediatric intensivists claim to embrace lung protective ventilation for acute lung injury (ALI), ventilator management is variable. We describe ventilator changes clinicians made for children with hypoxemic respiratory failure, and evaluate the potential acceptability of a pediatric ventilation protocol. This was a retrospective cohort study performed in a tertiary care pediatric intensive care unit (PICU). The study period was from January 2000 to July 2007. We included mechanically ventilated children with PaO(2)/FiO(2) (P/F) ratio less than 300. We assessed variability in ventilator management by evaluating actual changes to ventilator settings after an arterial blood gas (ABG). We evaluated the potential acceptability of a pediatric mechanical ventilation protocol we adapted from National Institutes of Health/National Heart, Lung, and Blood Institute (NIH/NHLBI) Acute Respiratory Distress Syndrome (ARDS) Network protocols by comparing actual practice changes in ventilator settings to changes that would have been recommended by the protocol. A total of 2,719 ABGs from 402 patients were associated with 6,017 ventilator settings. Clinicians infrequently decreased FiO(2), even when the PaO(2) was high (>68 mmHg). The protocol would have recommended more positive end expiratory pressure (PEEP) than was used in actual practice 42% of the time in the mid PaO(2) range (55-68 mmHg) and 67% of the time in the low PaO(2) range (<55 mmHg). Clinicians often made no change to either peak inspiratory pressure (PIP) or ventilator rate (VR) when the protocol would have recommended a change, even when the pH was greater than 7.45 with PIP at least 35 cmH(2)O. There may be lost opportunities to minimize potentially injurious ventilator settings for children with ALI. A reproducible pediatric mechanical ventilation protocol could prompt clinicians to make ventilator changes that are consistent with lung protective ventilation.

Prevention and management of carcinoid crises in patients with high-risk neuroendocrine tumours undergoing peptide receptor radionuclide therapy (PRRT): Literature review and case series from two Australian tertiary medical institutions.

PubMed

Tapia Rico, Gonzalo; Li, Minmin; Pavlakis, Nick; Cehic, Gabrielle; Price, Timothy J

2018-05-01

Peptide receptor radionuclide therapy (PRRT) is an important therapeutic option for somatostatin receptor (SSTR) positive metastatic and/or inoperable neuroendocrine tumours (NETs). However, in patients with poorly controlled carcinoid syndrome, it may lead to an acute flare of carcinoid symptoms or even carcinoid crisis. We report seven patients who received PRRT with ( 177 Lu-DOTA 0 , Tyr 3 ) octreotate ( 177 Lu-octreotate-LuTate) across two Australian tertiary medical institutions who developed acute flare of carcinoid symptoms/carcinoid crisis during/after PRRT. Cases were identified as high-risk due to previous history of carcinoid crises, high tumour burden and markedly elevated tumour markers. We propose a protocol to prevent and manage severe carcinoid symptoms in high-risk patients treated with PRRT. Copyright © 2018 Elsevier Ltd. All rights reserved.

Ovulation induction: a mini review.

PubMed

Messinis, Ioannis E

2005-10-01

Ovulation induction is the method for treating anovulatory infertility. For patients with hypogonadotrophic hypogonadism, the treatment involves administration of both FSH and LH, while HCG is injected for follicle rupture. Pulsatile GnRH has the same effectiveness as gonadotrophins and the advantage of the low multiple pregnancy rate. In polycystic ovary syndrome (PCOS), the first treatment choice is clomiphene citrate. With this drug, in properly selected patients, the cumulative pregnancy rate approaches that of normal women. Low-dose protocols of FSH are the second line of treatment, effective in inducing monofollicular development. Laparoscopic ovarian drilling can be an alternative but not as a first choice treatment in clomiphene-resistant patients. Other treatments, such as pulsatile GnRH and GnRH agonists, are hardly used today in PCOS. However, in obese women with PCOS, weight loss and exercise should be recommended as the first line of therapy. Newer agents including aromatase inhibitors and insulin sensitizers, although promising, need further evaluation.

Using Optical Tweezers to Study Cell Mechanics during Airway Reopening

NASA Astrophysics Data System (ADS)

Yalcin, Huseyin; Wang, Jing; Ghadiali, Samir; Ou-Yang, H. Daniel

2006-03-01

Patients suffering from the acute respiratory distress syndrome (ARDS) must be mechanically ventilated in order to survive. However, these ventilation protocols may generate injurious hydrodynamic stresses especially during low tidal volume (VT) ventilation when the flow of micron-sized air bubbles displace the surrounding liquid. In-vitro studies in our lab revealed that microbubble flows can severally damage lung epithelial cells (EC). The degree of injury was elevated for sub-confluent monolayers in small channel heights. Under these conditions, the micromechanics of individual EC may influence the degree of cellular injury. To investigate the role of cell mechanics, we used an oscillating Optical Tweezers (OT) technique to measure the intrinsic mechanical properties of EC before and after the flow of microbubbles. Knowledge of how the EC's micromechanical properties influence cell viability may lead to the development of novel treatment therapies that enhance the EC's ability to withstand injurious hydrodynamic stresses during ventilation treatment.

Sensitive Troponin I and Stress Testing in the Emergency Department for the Early Management of Chest Pain Using 2-Hour Protocol.

PubMed

Dadkhah, Shahriar; Almuwaqqat, Zakaria; Sulaiman, Samian; Husein, Husein; Nguyen, Quang; Ali, Saad; Taskesen, Tuncay

2017-09-01

Despite improvements in identifying high-risk patients with non-ST segment ACS (acute coronary syndrome), low risk patients presenting with atypical chest pain and non-diagnostic Electrocardiogram (ECG) continued to undergo unnecessary admissions and testing. Since 1992, our chest pain protocol included using 4-hour serial biomarkers from ED admission in combination with stress testing to evaluate these patients. Our study aimed at determining whether a new accelerated diagnostic protocol using sensitive cardiac troponin I (cTnI) 2 hours after admission to the ED followed by stress testing is safe and effective in emergency settings, allowing for appropriate triage, earlier discharge and reducing costs. We conducted a single center randomized trial at Presence St. Francis Hospital Chest pain center in Evanston, Illinois enrolling sixty-four consecutive patients with atypical chest pain and non-diagnostic ECG, participants were randomized to accelerated 2 hrs protocol or our pre-existing 4-hrs protocol. Sixty patients completed the protocol and were randomized to either a 2-hour (29 patients) or 4-hour protocol using both I-STAT and PATHFAST cTnI (31 Patients). Troponin I was evaluated at 0 and at 2 hours from ED presentation with and additional draw for patients in the 4-hour rule out-group. Patients with normal serial biomarkers were then evaluated with stress testing and qualified for earlier discharge if the stress test was negative, while those with a positive biomarker at any time were admitted. Thirty-six patients had exercise treadmill stress test and 24 patients had either nuclear or Echo stress test. Fifty-three patients had a normal stress test and were discharged home. One patient in the 4-hour group with normal serial troponins developed ventricular tachycardia/fibrillation during the recovery period of a regular stress test. Six patients had a positive PATHFAST cTnI and a normal I-STAT cTnI at 2-hours. Two out of these six patients evaluated by coronary angiography. One patient had severe tortuous coronaries but no significant obstructive lesion and one had a severe CAD who needed Coronary artery bypass grafting (CABG). Three of the six patients had a normal stress test and one patient decided to leave without further testing. None of the patients with a normal stress test had a major cardiac event or adverse cardiac outcome at six-month follow up. This study demonstrates that the 2 hours accelerated protocol using high sensitivity Troponin assay at 0 and 2 hours with comprehensive clinical evaluation and ECG followed by stress testing might be successful in identifying low-risk patient population who may benefit from early discharge from ED reducing associated costs and length of stay.

Infection and acute respiratory distress syndrome during pregnancy: a case series of preventable maternal deaths from southern India.

PubMed

Vasudeva, Akhila; Bhat, Rajeshwari G; Ramachandran, Amar; Kumar, Pratap

2013-02-01

Acute respiratory distress syndrome (ARDS) is common among women admitted to obstetric intensive care units, and it contributes significantly, both directly and indirectly, to maternal deaths. We present a case series of ARDS in pregnant women caused by non-obstetric causes. The women were treated at a tertiary hospital in southern India. The striking features were delayed referral from the primary care unit and the lack of a primary diagnosis or treatment. Undiagnosed rheumatic heart disease, anemia, and malaria and H1N1 epidemics contributed to these cases of ARDS and maternal death. It is necessary to increase the awareness of evidence-based uniform protocols to tackle common medical complaints during pregnancy. Copyright © 2012 King Saud Bin Abdulaziz University for Health Sciences. Published by Elsevier Ltd. All rights reserved.

Effects of Sampling Context on Spontaneous Expressive Language in Males with Fragile X Syndrome or Down Syndrome

PubMed Central

Kover, Sara T.; McDuffie, Andrea; Abbeduto, Leonard; Brown, W. Ted

2012-01-01

Purpose This study examined the impact of sampling context on multiple aspects of expressive language in males with fragile X syndrome in comparison to males with Down syndrome or typical development. Method Participants with fragile X syndrome (n = 27), ages 10 to 17 years, were matched groupwise on nonverbal mental age to adolescents with Down syndrome (n = 15) and typically developing 3- to 6-year-olds (n = 15). Language sampling contexts were an interview-style conversation and narration of a wordless book, with scripted examiner behavior. Language was assessed in terms of amount of talk, MLU of communication unit (MLCU), lexical diversity, fluency, and intelligibility. Results Participants with fragile X syndrome had lower MLCU and lexical diversity than participants with typical development. Participants with Down syndrome produced yet lower MLCU. A differential effect of context among those with fragile X syndrome, Down syndrome, and typical development emerged for the number of attempts per minute, MLCU, and fluency. For participants with fragile X syndrome, autism symptom severity related to the number of utterances produced in conversation. Aspects of examiner behavior related to participant performance. Conclusions Sampling context characteristics should be considered when assessing expressive language in individuals with neurodevelopmental disabilities. PMID:22232386

[Extravasation of contrast media at the puncture site: Strategies for managment].

PubMed

Pacheco Compaña, F J; Gago Vidal, B; Méndez Díaz, C

2014-01-01

The incidence of contrast medium extravasation at the venipuncture site has increased with the generalized use of automatic injectors. Most extravasations only cause slight edema and erythema. Nevertheless, in some cases extravasation can result in severe skin lesions or even in compartment syndrome. Lesions caused by extravasation usually resolve spontaneously with conservative treatment. Although the complications of extravasation are well known, institutional protocols are normally lacking and the criteria for taking action and the type of treatment, whether based on the literature or personal preferences, tend to vary. In this article, we review the incidence, risk factors, clinical manifestations, and options for preventing and treating contrast medium extravasation in soft tissues. Finally, we present the protocol we use to manage extravasation at our hospital. Copyright © 2013 SERAM. Published by Elsevier Espana. All rights reserved.

Risk factors of postthrombotic syndrome before and after deep venous thrombosis treatment.

PubMed

Strijkers, Rob Hw; de Wolf, Mark Af; Wittens, Cees Ha

2017-07-01

Postthrombotic syndrome is the most common complication after deep venous thrombosis. Postthrombotic syndrome is a debilitating disease and associated with decreased quality of life and high healthcare costs. Postthrombotic syndrome is a chronic disease, and causative treatment options are limited. Prevention of postthrombotic syndrome is therefore very important. Not all patients develop postthrombotic syndrome. Risk factors have been identified to try to predict the risk of developing postthrombotic syndrome. Age, gender, and recurrent deep venous thrombosis are factors that cannot be changed. Deep venous thrombosis location and extent seem to predict severity of postthrombotic syndrome and are potentially suitable as patient selection criteria. Residual thrombosis and reflux are known to increase the incidence of postthrombotic syndrome, but are of limited use. More recently developed treatment options for deep venous thrombosis, such as new oral factor X inhibitors and catheter-directed thrombolysis, are available at the moment. Catheter-directed thrombolysis shows promising results in reducing the incidence of postthrombotic syndrome after deep venous thrombosis. The role of new oral factor X inhibitors in preventing postthrombotic syndrome is still to be determined.

Human albumin: old, new, and emerging applications.

PubMed

Rozga, Jacek; Piątek, Tomasz; Małkowski, Piotr

2013-05-10

Human serum albumin has been widely used in an array of clinical settings for nearly 7 decades. Although there is no evidence to support the use of albumin rather than crystalloid in acute volume resuscitation, many clinicians continue to use albumin because it has other important physiologic effects besides the oncotic function. In keeping with the improved understanding of albumin physiology and pathophysiology of many acute and chronic diseases, use of albumin for medical applications has increased in recent years. This, along with increased costs of manufacturing and lower production volume of medical-grade albumin, has lead to an ongoing shortage and rapid increase in albumin prices. This review is based on the analysis of major publications, related to albumin chemistry, physiology, and medical uses including guidelines developed by professional and governmental organizations. Results reflect current knowledge about the role of albumin in health and disease and relevance of albumin therapy in specific clinical settings. Albumin therapy is currently recommended in spontaneous bacterial peritonitis with ascites, refractory ascites not responsive to diuretics, large-volume paracentesis, post-paracentesis syndrome, and the treatment of hepatorenal syndrome as an adjunct to vasoconstrictors. New indications for albumin therapy are linked to the antioxidant activity of albumin and its effects on capillary integrity. In recent years, large-pore hemofiltration and albumin exchange have emerged as promising liver support therapies for liver failure and other toxic syndromes. They are designed to remove a broad range of blood-borne toxins and to restore normal functions of the circulating albumin by replacing defective forms of albumin and albumin molecules saturated with toxins with normal albumin. In view of the ongoing worldwide shortage and high cost of human albumin (native and recombinant), new usage criteria, protocols, and guidelines for appropriate utilization of albumin are needed.

Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis.

PubMed

Poling, Mikaela I; Morales Corado, José Andrés; Chamberlain, Robert L

2017-03-06

Freeman-Sheldon and Sheldon-Hall syndromes (FSS and SHS) and distal arthrogryposis types 1 and 3 (DA1 and DA3) are rare, often confused, congenital syndromes. Few studies exist. With reported diagnosis unreliable, it would be scientifically inappropriate to consider articles describing FSS, SHS, DA1, or DA3, unless diagnoses were independently verified, rendering conventional systematic review and meta-analysis methodology inappropriate and necessitating patient-level data analysis (PROSPERO: CRD42015024740). As part of a clinical practise guideline development process, we evaluate (1) diagnostic accuracy from 1938-2017, using the Stevenson criteria; (2) the most common physical findings, possible frequency clusters, and complications of physical findings amongst patients with FSS; and (3) treatment types and outcomes. All papers reporting diagnosis of FSS, SHS, DA1, and DA3 are included in searching PubMed and Google Scholar from December 2014 to July 2015 and again before final analyses. Patients with FSS are divided into four phenotype-defined sub-types; all patients are grouped by published diagnosis and medical speciality. Significance of physical findings and historical data is evaluated by chi-square. Associations of physical findings and history with diagnosis and treatment outcome are evaluated by Pearson correlation and linear regression analysis. Two-tailed alpha level of 0.05 is used throughout. The need for detailed patient-level data extraction may limit the types of articles included and questions able to be answered. For treatment and psychosocial health outcomes, we anticipate enhanced difficulties, which may limit significance, power, and results' usability. We hope to outline knowledge gaps and prioritise areas for clinical investigation. CRD42015024740 Universal Trial Number: U1111-1172-4670.

Clinical course, costs and predictive factors for response to treatment in carpal tunnel syndrome: the PALMS study protocol.

PubMed

Jerosch-Herold, Christina; Shepstone, Lee; Wilson, Edward C F; Dyer, Tony; Blake, Julian

2014-02-07

Carpal tunnel syndrome (CTS) is the most common neuropathy of the upper limb and a significant contributor to hand functional impairment and disability. Effective treatment options include conservative and surgical interventions, however it is not possible at present to predict the outcome of treatment. The primary aim of this study is to identify which baseline clinical factors predict a good outcome from conservative treatment (by injection) or surgery in patients diagnosed with carpal tunnel syndrome. Secondary aims are to describe the clinical course and progression of CTS, and to describe and predict the UK cost of CTS to the individual, National Health Service (NHS) and society over a two year period. In this prospective observational cohort study patients presenting with clinical signs and symptoms typical of CTS and in whom the diagnosis is confirmed by nerve conduction studies are invited to participate. Data on putative predictive factors are collected at baseline and follow-up through patient questionnaires and include standardised measures of symptom severity, hand function, psychological and physical health, comorbidity and quality of life. Resource use and cost over the 2 year period such as prescribed medications, NHS and private healthcare contacts are also collected through patient self-report at 6, 12, 18 and 24 months. The primary outcome used to classify treatment success or failures will be a 5-point global assessment of change. Secondary outcomes include changes in clinical symptoms, functioning, psychological health, quality of life and resource use. A multivariable model of factors which predict outcome and cost will be developed. This prospective cohort study will provide important data on the clinical course and UK costs of CTS over a two-year period and begin to identify predictive factors for treatment success from conservative and surgical interventions.

Pleiotropy in microdeletion syndromes: Neurologic and spermatogenic abnormalities in mice homozygous for the p{sup 6H} deletion are likely due to dysfunction of a single gene

DOE Office of Scientific and Technical Information (OSTI.GOV)

Rinchik, E.M.; Carpenter, D.A.; Handel, M.A.

1995-07-03

Variability and complexity of phenotypes observed in microdeletion syndromes can be due to deletion of a single gene whose product participates in several aspects of development or can be due to the deletion of a number of tightly linked genes, each adding its own effect to the syndrome. The p{sup 6H} deletion in mouse chromosome 7 presents a good model with which to address this question of multigene vs. single-gene pleiotropy. Mice homozygous for the p{sup 6H} deletion are diluted in pigmentation, are smaller than their littermates, and manifest a nervous jerky-gait phenotype. Male homozygotes are sterile and exhibit profoundmore » abnormalities in spermiogenesis. By using N-ethyl-N-nitrosourea (EtNU) mutagenesis and a breeding protocol designed to recover recessive mutations expressed hemizygously opposite a large p-locus deletion, we have generated three noncomplementing mutations that map to the p{sup 6H} deletion. Each of these EtNU-induced mutations has adverse effects on the size, nervous behavior, and progression of spermiogenesis that characterize p{sup 6H} deletion homozygotes. Because etNU is thought to induce primarily intragenic (point) mutations in mouse stem-cell spermatogonia, we propose that the trio of phenotypes (runtiness, nervous jerky gait, and male sterility) expressed in p{sup 6H} deletion homozygotes is the result of deletion of a single highly pleiotropic gene. We also predict that a homologous single locus, quite possibly tightly linked and distal to the D15S12 (P) locus in human chromosome 15q11-q13, may be associated with similar developmental abnormalities in humans. 29 refs., 3 figs., 1 tab.« less

An approach to standardization of urine sediment analysis via suggestion of a common manual protocol.

PubMed

Ko, Dae-Hyun; Ji, Misuk; Kim, Sollip; Cho, Eun-Jung; Lee, Woochang; Yun, Yeo-Min; Chun, Sail; Min, Won-Ki

2016-01-01

The results of urine sediment analysis have been reported semiquantitatively. However, as recent guidelines recommend quantitative reporting of urine sediment, and with the development of automated urine sediment analyzers, there is an increasing need for quantitative analysis of urine sediment. Here, we developed a protocol for urine sediment analysis and quantified the results. Based on questionnaires, various reports, guidelines, and experimental results, we developed a protocol for urine sediment analysis. The results of this new protocol were compared with those obtained with a standardized chamber and an automated sediment analyzer. Reference intervals were also estimated using new protocol. We developed a protocol with centrifugation at 400 g for 5 min, with the average concentration factor of 30. The correlation between quantitative results of urine sediment analysis, the standardized chamber, and the automated sediment analyzer were generally good. The conversion factor derived from the new protocol showed a better fit with the results of manual count than the default conversion factor in the automated sediment analyzer. We developed a protocol for manual urine sediment analysis to quantitatively report the results. This protocol may provide a mean for standardization of urine sediment analysis.

Transnodal lymphangiography and post-CT for protein-losing enteropathy in Noonan syndrome.

PubMed

Matsumoto, Tomohiro; Kudo, Takahiro; Endo, Jun; Hashida, Kazunobu; Tachibana, Nao; Murakoshi, Takatsugu; Hasebe, Terumitsu

2015-01-01

Noonan syndrome, which is a multiple congenital disorder, may be associated with lymphatic abnormalities. Protein-losing enteropathy (PLE) developing in Noonan syndrome is rare. We performed transnodal lymphangiography by directly accessing bilateral inguinal nodes under ultrasound guidance in a 17-year-old female with PLE developing in Noonan syndrome to assess detailed anatomical findings regarding lymphatic vessels. There have been no reports on transnodal lymphangiography for Noonan syndrome. Post-lymphangiographic CT images revealed multiple lymphatic abnormalities and lipiodol extravasation into the duodenum and the proximal jejunum. Transnodal lymphangiography was easy and safe for PLE developing in Noonan syndrome, and post-lymphangiographic CT provided invaluable information.

GnRH antagonist versus long agonist protocols in IVF: a systematic review and meta-analysis accounting for patient type.

PubMed

Lambalk, C B; Banga, F R; Huirne, J A; Toftager, M; Pinborg, A; Homburg, R; van der Veen, F; van Wely, M

2017-09-01

Most reviews of IVF ovarian stimulation protocols have insufficiently accounted for various patient populations, such as ovulatory women, women with polycystic ovary syndrome (PCOS) or women with poor ovarian response, and have included studies in which the agonist or antagonist was not the only variable between the compared study arms. The aim of the current study was to compare GnRH antagonist protocols versus standard long agonist protocols in couples undergoing IVF or ICSI, while accounting for various patient populations and treatment schedules. The Cochrane Menstrual Disorders and Subfertility Review Group specialized register of controlled trials and Pubmed and Embase databases were searched from inception until June 2016. Eligible trials were those that compared GnRH antagonist protocols and standard long GnRH agonist protocols in couples undergoing IVF or ICSI. The primary outcome was ongoing pregnancy rate. Secondary outcomes were: live birth rate, clinical pregnancy rate, number of oocytes retrieved and safety with regard to ovarian hyperstimulation syndrome (OHSS). Separate comparisons were performed for the general IVF population, women with PCOS and women with poor ovarian response. Pre-planned subgroup analyses were performed for various antagonist treatment schedules. We included 50 studies. Of these, 34 studies reported on general IVF patients, 10 studies reported on PCOS patients and 6 studies reported on poor responders. In general IVF patients, ongoing pregnancy rate was significantly lower in the antagonist group compared with the agonist group (RR 0.89, 95% CI 0.82-0.96). In women with PCOS and in women with poor ovarian response, there was no evidence of a difference in ongoing pregnancy between the antagonist and agonist groups (RR 0.97, 95% CI 0.84-1.11 and RR 0.87, 95% CI 0.65-1.17, respectively). Subgroup analyses for various antagonist treatment schedules compared to the long protocol GnRH agonist showed a significantly lower ongoing pregnancy rate when the oral hormonal programming pill (OHP) pretreatment was combined with a flexible protocol (RR 0.74, 95% CI 0.59-0.91) while without OHP, the RR was 0.84, 95% CI 0.71-1.0. Subgroup analysis for the fixed antagonist schedule demonstrated no evidence of a significant difference with or without OHP (RR 0.94, 95% CI 0.79-1.12 and RR 0.94, 95% CI 0.83-1.05, respectively). Antagonists resulted in significantly lower OHSS rates both in the general IVF patients and in women with PCOS (RR 0.63, 95% CI 0.50-0.81 and RR 0.53, 95% CI 0.30-0.95, respectively). No data on OHSS was available from trials in poor responders. In a general IVF population, GnRH antagonists are associated with lower ongoing pregnancy rates when compared to long protocol agonists, but also with lower OHSS rates. Within this population, antagonist treatment prevents one case of OHSS in 40 patients but results in one less ongoing pregnancy out of every 28 women treated. Thus standard use of the long GnRH agonist treatment is perhaps still the approach of choice for prevention of premature luteinization. In couples with PCOS and poor responders, GnRH antagonists do not seem to compromise ongoing pregnancy rates and are associated with less OHSS and therefore could be considered as standard treatment. © The Author 2017. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com

Incidence of refeeding syndrome in internal medicine patients.

PubMed

Kraaijenbrink, B V C; Lambers, W M; Mathus-Vliegen, E M H; Siegert, C E H

2016-03-01

Refeeding syndrome is a potentially fatal shift of fluids and electrolytes that may occur after reintroducing nutrition in a malnourished patient. Its incidence in internal medicine patients is not known. We aimed at determining the incidence in a heterogeneous group of patients acutely admitted to a department of internal medicine. All patients acutely admitted to the department of internal medicine of a teaching community hospital in Amsterdam, the Netherlands, between 22 February 2011 and 29 April 2011, were included. We applied the National Institute for Health and Care Excellence (NICE) criteria for determining people at risk of refeeding syndrome and took hypophosphataemia as the main indicator for the presence of this syndrome. Of 178 patients included in the study, 97 (54%) were considered to be at risk of developing refeeding syndrome and 14 patients actually developed the syndrome (14% of patients at risk and 8% of study population). Patients with a malignancy or previous malignancy were at increased risk of developing refeeding syndrome (p < 0.05). Measurement of muscle strength over time was not associated with the occurrence of refeeding syndrome. The Short Nutritional Assessment Questionnaire score had a positive and negative predictive value of 13% and 95% respectively. The incidence of refeeding syndrome was relatively high in patients acutely admitted to the department of internal medicine. Oncology patients are at increased risk of developing refeeding syndrome. When taking the occurrence of hypophosphataemia as a hallmark, no other single clinical or composite parameter could be identified that accurately predicts the development of refeeding syndrome.

Anti-allergic effects of Vernonia amygdalina leaf extracts in hapten-induced atopic dermatitis-like disease in mice.

PubMed

Ngatu, Nlandu Roger; Okajima, Maiko K; Yokogawa, Maki; Hirota, Ryoji; Takaishi, Mikiro; Eitoku, Masamitsu; Muzembo, Basilua Andre; Sabah, Asif Bhati; Saruta, Takao; Miyamura, Mitsuhiko; Kaneko, Tatsuo; Sano, Shigetoshi; Suganuma, Narufumi

2012-12-01

Atopic dermatitis (AD) is a chronic inflammatory skin disease characterized by pruritic and eczematous skin lesions. In this study, AD-like disease was induced in NC/Nga mice so as to evaluate the anti-allergic effects of Vernonia amygdalina leaf extracts (VAM). Forty NC/Nga mice were purchased for each of the two protocols (prophylactic and curative) of the study. Mice were randomly divided in groups of five or six after sensitization with 5% trinitrochlorobenzene (TNCB): aqueous extracts (VAM1), methanolic extracts (VAM2), hydrocortisone (HCT), buffer for the control (TNCB) and the normal mice (NORM) groups. As for HCT, VAM1 and VAM2-pretreated mice showed significantly lower number of scratching behavior episodes (p < 0.01; vs. TNCB) following TNCB challenge. In addition, VAM1, VAM2 exerted a significant inhibitory effect on the development of AD skin symptoms (vs. TNCB group; p < 0.001), the production of IgE, TNF-alpha (p < 0.05), IL-5 and IFN-gamma (p < 0.01) (vs. TNCB group) and on the increase in ear thickness (p < 0.05) in prophylactic protocol. In the AD curative protocol, topical VAM1, VAM2 markedly improved skin lesions such as erythema/hemorrhage (p < 0.05), scaling/dryness, erosion/excoriation (p < 0.01) (vs. TNCB mice). Furthermore, a significant decrease in ear thickness was noted in VAM1, VAM2, HCT groups (vs. TNCB group; p < 0.05) as well as the serum total IgE, MCP-1 (p < 0.01) and eotaxin (p < 0.05). VAM2 also improved chronic eczema dermatitis skin symptoms in a patient. Results from this report suggest that VAM extracts, known as ERK pathway inhibitor, prevent and improve atopic/eczema dermatitis syndrome.

Development and characteristics of children with Usher syndrome and CHARGE syndrome.

PubMed

Dammeyer, Jesper

2012-09-01

Individuals with Usher syndrome or CHARGE syndrome are faced with a number of difficulties concerning hearing, vision, balance, and language development. The aim of the study is to describe the developmental characteristics of children with Usher syndrome and CHARGE syndrome, respectively. Data about the developmental characteristics of 26 children with Usher syndrome and 17 children with CHARGE syndrome was obtained. Associations between deafblindness (dual sensory loss), motor development (age of walking), language abilities, and intellectual outcome of these children were explored for each group independently. Both groups of children face a number of difficulties associated with vision, hearing, language, balance and intellectual outcome. Intellectual disability and/or language delay was found among 42% of the children with Usher syndrome and among 82% of the children with CHARGE syndrome. Intellectual disability was associated with language delay and age of walking for both groups. Even though Usher and CHARGE are two different genetic syndromes, both groups are challenged with a number of similar developmental delays. Clinicians need to be aware of several developmental issues in order to offer adequate support to children with Usher or CHARGE syndrome. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Genetic Aspects of Preeclampsia and the HELLP Syndrome

PubMed Central

Mortensen, Jan Helge; Nagy, Bálint

2014-01-01

Both preeclampsia and the HELLP syndrome have their origin in the placenta. The aim of this study is to review genetic factors involved in development of preeclampsia and the HELLP syndrome using literature search in PubMed. A familial cohort links chromosomes 2q, 5q, and 13q to preeclampsia. The chromosome 12q is coupled with the HELLP syndrome. The STOX1 gene, the ERAP1 and 2 genes, the syncytin envelope gene, and the −670 Fas receptor polymorphisms are involved in the development of preeclampsia. The ACVR2A gene on chromosome 2q22 is also implicated. The toll-like receptor-4 (TLR-4) and factor V Leiden mutation participate both in development of preeclampsia and the HELLP syndrome. Carriers of the TT and the CC genotype of the MTHFR C677T polymorphism seem to have an increased risk of the HELLP syndrome. The placental levels of VEGF mRNA are reduced both in women with preeclampsia and in women with the HELLP syndrome. The BclI polymorphism is engaged in development of the HELLP syndrome but not in development of severe preeclampsia. The ACE I/D polymorphism affects uteroplacental and umbilical artery blood flows in women with preeclampsia. In women with preeclampsia and the HELLP syndrome several genes in the placenta are deregulated. Preeclampsia and the HELLP syndrome are multiplex genetic diseases. PMID:24991435

OBESITY PREVALENCE AND METABOLIC SYNDROME IN A PARK USERS

PubMed Central

de SOUZA, Maíra Danielle Gomes; VILAR, Lucio; de ANDRADE, Cinthia Barbosa; ALBUQUERQUE, Raíssa de Oliveira e; CORDEIRO, Lúcia Helena de Oliveira; CAMPOS, Josemberg Marins; FERRAZ, Álvaro Antônio Bandeira

2015-01-01

Background - Overweight and obesity are associated with metabolic syndrome and abdominal obesity, thereby increasing the risk of type 2 diabetes mellitus and cardiovascular diseases. In Brazil, there are still no precise data on the prevalence of these disorders, especially among individuals who carry out some kind of physical activity in public spaces and there are no education and prevention programs for obesity. Aim: To investigate the prevalence of metabolic syndrome and obesity among park users. Methods: A prospective, cross-sectional, descriptive study was conducted with 619 individuals assessed and stratified by profile according to a specific protocol. The group was characterized as follows: female (50.1%) and mean age =50.6±14.8, with predominance of individuals aged between 50 and 59 years (26.8%) and with higher education (68%) and a household income of between 4 and 10 minimum wages (29.2%). Results: Regular physical exercise was reported by 78% of the individuals and it was found that 70.7% were nevertheless of above normal weight: 45% overweight and 25.7% obese, of whom 20.7% had obesity grade I, 3.9% grade II and 1.1% grade III. The prevalence of metabolic syndrome was 4.3%, mostly in men (6.3%). Arterial hypertension and type 2 diabetes mellitus were detected in 17.8% and 5.5%, respectively. In view of the influence of obesity on the occurrence of type 2 diabetes mellitus and metabolic syndrome, it was found that this association was not significant for the two conditions (p=0.014 and 0.017, respectively). Conclusion : The findings demonstrate a high prevalence of overweight and obesity in the studied population, and metabolic syndrome in 4.3%, despite the fact that 70% reported engaging in regular physical activity. PMID:26537270

High-resolution MRI vessel wall imaging: spatial and temporal patterns of reversible cerebral vasoconstriction syndrome and central nervous system vasculitis.

PubMed

Obusez, E C; Hui, F; Hajj-Ali, R A; Cerejo, R; Calabrese, L H; Hammad, T; Jones, S E

2014-08-01

High-resolution MR imaging is an emerging tool for evaluating intracranial artery disease. It has an advantage of defining vessel wall characteristics of intracranial vascular diseases. We investigated high-resolution MR imaging arterial wall characteristics of CNS vasculitis and reversible cerebral vasoconstriction syndrome to determine wall pattern changes during a follow-up period. We retrospectively reviewed 3T-high-resolution MR imaging vessel wall studies performed on 26 patients with a confirmed diagnosis of CNS vasculitis and reversible cerebral vasoconstriction syndrome during a follow-up period. Vessel wall imaging protocol included black-blood contrast-enhanced T1-weighted sequences with fat suppression and a saturation band, and time-of-flight MRA of the circle of Willis. Vessel wall characteristics including enhancement, wall thickening, and lumen narrowing were collected. Thirteen patients with CNS vasculitis and 13 patients with reversible cerebral vasoconstriction syndrome were included. In the CNS vasculitis group, 9 patients showed smooth, concentric wall enhancement and thickening; 3 patients had smooth, eccentric wall enhancement and thickening; and 1 patient was without wall enhancement and thickening. Six of 13 patients had follow-up imaging; 4 patients showed stable smooth, concentric enhancement and thickening; and 2 patients had resoluton of initial imaging findings. In the reversible cerebral vasoconstriction syndrome group, 10 patients showed diffuse, uniform wall thickening with negligible-to-mild enhancement. Nine patients had follow-up imaging, with 8 patients showing complete resolution of the initial findings. Postgadolinium 3T-high-resolution MR imaging appears to be a feasible tool in differentiating vessel wall patterns of CNS vasculitis and reversible cerebral vasoconstriction syndrome changes during a follow-up period. © 2014 by American Journal of Neuroradiology.

Characterization of a rare variant (c.2635-2A>G) of the MSH2 gene in a family with Lynch syndrome.

PubMed

Cariola, Filomena; Disciglio, Vittoria; Valentini, Anna M; Lotesoriere, Claudio; Fasano, Candida; Forte, Giovanna; Russo, Luciana; Di Carlo, Antonio; Guglielmi, Floranna; Manghisi, Andrea; Lolli, Ivan; Caruso, Maria L; Simone, Cristiano

2018-04-01

Lynch syndrome is caused by germline mutations in one of the mismatch repair genes ( MLH1, MSH2, MSH6, and PMS2) or in the EPCAM gene. Lynch syndrome is defined on the basis of clinical, pathological, and genetic findings. Accordingly, the identification of predisposing genes allows for accurate risk assessment and tailored screening protocols. Here, we report a family case with three family members manifesting the Lynch syndrome phenotype, all of which harbor the rare variant c.2635-2A>G affecting the splice site consensus sequence of intron 15 of the MSH2 gene. This mutation was previously described only in one family with Lynch syndrome, in which mismatch repair protein expression in tumor tissues was not assessed. In this study, we report for the first time the molecular characterization of the MSH2 c.2635-2A>G variant through in silico prediction analysis, microsatellite instability, and mismatch repair protein expression experiments on tumor tissues of Lynch syndrome patients. The potential effect of the splice site variant was revealed by three splicing prediction bioinformatics tools, which suggested the generation of a new cryptic splicing site. The potential pathogenic role of this variant was also revealed by the presence of microsatellite instability and the absence of MSH2/MSH6 heterodimer protein expression in the tumor cells of cancer tissues of the affected family members. We provide compelling evidence in favor of the pathogenic role of the MSH2 variant c.2635-2A>G, which could induce an alteration of the canonical splice site and consequently an aberrant form of the protein product (MSH2).

In Vitro and In Silico Risk Assessment in Acquired Long QT Syndrome: The Devil Is in the Details.

PubMed

Lee, William; Windley, Monique J; Vandenberg, Jamie I; Hill, Adam P

2017-01-01

Acquired long QT syndrome, mostly as a result of drug block of the Kv11. 1 potassium channel in the heart, is characterized by delayed cardiac myocyte repolarization, prolongation of the T interval on the ECG, syncope and sudden cardiac death due to the polymorphic ventricular arrhythmia Torsade de Pointes (TdP). In recent years, efforts are underway through the Comprehensive in vitro proarrhythmic assay (CiPA) initiative, to develop better tests for this drug induced arrhythmia based in part on in silico simulations of pharmacological disruption of repolarization. However, drug binding to Kv11.1 is more complex than a simple binary molecular reaction, meaning simple steady state measures of potency are poor surrogates for risk. As a result, there is a plethora of mechanistic detail describing the drug/Kv11.1 interaction-such as drug binding kinetics, state preference, temperature dependence and trapping-that needs to be considered when developing in silico models for risk prediction. In addition to this, other factors, such as multichannel pharmacological profile and the nature of the ventricular cell models used in simulations also need to be considered in the search for the optimum in silico approach. Here we consider how much of mechanistic detail needs to be included for in silico models to accurately predict risk and further, how much of this detail can be retrieved from protocols that are practical to implement in high throughout screens as part of next generation of preclinical in silico drug screening approaches?

Ventilatory strategies and supportive care in acute respiratory distress syndrome.

PubMed

Luks, Andrew M

2013-11-01

While antiviral therapy is an important component of care in patients with the acute respiratory distress syndrome (ARDS) following influenza infection, it is not sufficient to ensure good outcomes, and additional measures are usually necessary. Patients usually receive high levels of supplemental oxygen to counteract the hypoxemia resulting from severe gas exchange abnormalities. Many patients also receive invasive mechanical ventilation for support for oxygenation, while in resource-poor settings, supplemental oxygen via face mask may be the only available intervention. Patients with ARDS receiving mechanical ventilation should receive lung-protective ventilation, whereby tidal volume is decreased to 6 ml/kg of their predicted weight and distending pressures are maintained ≤ 30 cm H2 O, as well as increased inspired oxygen concentrations and positive end-expiratory pressure (PEEP) to prevent atelectasis and support oxygenation. While these measures are sufficient in most patients, a minority develop refractory hypoxemia and may receive additional therapies, including prone positioning, inhaled vasodilators, extracorporeal membrane oxygenation, recruitment maneuvers followed by high PEEP, and neuromuscular blockade, although recent data suggest that this last option may be warranted earlier in the clinical course before development of refractory hypoxemia. Application of these "rescue strategies" is complicated by the lack of guidance in the literature regarding implementation. While much attention is devoted to these strategies, clinicians must not lose sight of simple interventions that affect patient outcomes including head of bed elevation, prophylaxis against venous thromboembolism and gastrointestinal bleeding, judicious use of fluids in the post-resuscitative phase, and a protocol-based approach to sedation and spontaneous breathing trials. © 2013 Blackwell Publishing Ltd.

A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome.

PubMed

Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet

2016-05-01

In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment.

Development of protocols for confined extension/creep testing of geosynthetics for highway applications

DOT National Transportation Integrated Search

1998-03-01

This report presents the development and verification of a testing protocol and protocol equipment for confined extension testing and confined creep testing for geosynthetic reinforcement materials. The developed data indicate that confined response ...

Differentiated thyroid cancer associated with intestinal polyposis syndromes: a review.

PubMed

Harb, William J; Sturgis, Erich M

2009-11-01

Intestinal polyposis syndromes, such as familial adenomatous polyposis (FAP) and Cowden's syndrome, are often associated with extraintestinal manifestations, and while many of these manifestations are benign, malignant extraintestinal manifestations, such as differentiated thyroid cancers, do occur. Although differentiated thyroid cancers (ie, papillary and follicular thyroid carcinomas) are associated with multiple syndromes, they are most commonly associated with intestinal polyposis syndromes. In the general population, the probability of developing thyroid cancer by age 65 years is only .5%. However, 1% to 2% of patients with FAP develop papillary thyroid carcinoma, the most common extraintestinal malignancy in patients with FAP. Also, up to 10% of patients with Cowden's syndrome will develop follicular thyroid carcinoma. The purpose of this review was to provide an overview of FAP, Cowden's syndrome, and Peutz-Jeghers syndrome, to discuss in detail the associations between intestinal polyposis syndromes and differentiated thyroid cancers, and to provide suggestions for screening and managing these diseases. (c) 2009 Wiley Periodicals, Inc. Head Neck, 2009.

Protocols development for security and privacy of radio frequency identification systems

NASA Astrophysics Data System (ADS)

Sabbagha, Fatin

There are benefits to adopting radio frequency identification (RFID) technology, although there are methods of attack that can compromise the system. This research determined how that may happen and what possible solutions can keep that from happening. Protocols were developed to implement better security. In addition, new topologies were developed to handle the problems of the key management. Previously proposed protocols focused on providing mutual authentication and privacy between readers and tags. However, those protocols are still vulnerable to be attacked. These protocols were analyzed and the disadvantages shown for each one. Previous works assumed that the channels between readers and the servers were secure. In the proposed protocols, a compromised reader is considered along with how to prevent tags from being read by that reader. The new protocols provide mutual authentication between readers and tags and, at the same time, remove the compromised reader from the system. Three protocols are proposed. In the first protocol, a mutual authentication is achieved and a compromised reader is not allowed in the network. In the second protocol, the number of times a reader contacts the server is reduced. The third protocol provides authentication and privacy between tags and readers using a trusted third party. The developed topology is implemented using python language and simulates work to check the efficiency regarding the processing time. The three protocols are implemented by writing codes in C language and then compiling them in MSP430. IAR Embedded workbench is used, which is an integrated development environment with the C/C++ compiler to generate a faster code and to debug the microcontroller. In summary, the goal of this research is to find solutions for the problems on previously proposed protocols, handle a compromised reader, and solve key management problems.

Cytomegalovirus disease in lung transplantation: impact of recipient seropositivity and duration of antiviral prophylaxis.

PubMed

Hammond, S P; Martin, S T; Roberts, K; Gabardi, S; Fuhlbrigge, A L; Camp, P C; Goldberg, H J; Marty, F M; Baden, L R

2013-04-01

A recent randomized trial demonstrated that 1 year of antiviral prophylaxis for cytomegalovirus (CMV) after lung transplantation is superior to 3 months of treatment for prevention of CMV disease. However, it is uncertain if a shorter duration of prophylaxis might result in a similar rate of CMV disease among select lung transplant (LT) recipients who are at lower risk for CMV disease, based on baseline donor (D) and recipient (R) CMV serologies. We retrospectively assessed incidence, cumulative probability, and predictors of CMV disease and viremia in LT recipients transplanted between July 2004 and December 2009 at our center, where antiviral CMV prophylaxis for 6-12 months is standard. Of 129 LT recipients, 94 were at risk for CMV infection based on donor CMV seropositivity (D+) or recipient seropositivity (R+); 14 developed CMV disease (14.9%): 11 with CMV syndrome, 2 with pneumonitis, and 1 with gastrointestinal disease by the end of follow-up (October 2010); 17 developed asymptomatic CMV viremia (18.1%). The cumulative probability of CMV disease was 17.4% 18 months after transplantation. CMV D+/R- recipients who routinely received 1 year of prophylaxis were more likely to develop CMV disease compared with D+/R+ or D-/R+ recipients, who routinely received 6 months of prophylaxis (12/45 vs. 2/25 vs. 0/24, P = 0.005). Recipients who stopped CMV prophylaxis before 12 months (in D+/R- recipients) and 6 months (in R+ recipients) tended to develop CMV disease more than those who did not (9/39 vs. 3/41, P = 0.06). On a 6-month CMV prophylaxis protocol, few R+ recipients developed CMV disease in this cohort. In contrast, despite a 12-month prophylaxis protocol, D+/R- LT recipients remained at highest risk for CMV disease. © 2012 John Wiley & Sons A/S.

Developing an evidence-based practice protocol: implications for midwifery practice.

PubMed

Carr, K C

2000-01-01

Evidence-based practice is defined and its importance to midwifery practice is presented. Guidelines are provided for the development of an evidence-based practice protocol. These include: identifying the clinical question, obtaining the evidence, evaluating the validity and importance of the evidence, synthesizing the evidence and applying it to the development of a protocol or clinical algorithm, and, finally, developing an evaluation plan or measurement strategy to see if the new protocol is effective.

Epidemiology of fetal alcohol syndrome in a South African community in the Western Cape Province.

PubMed Central

May, P A; Brooke, L; Gossage, J P; Croxford, J; Adnams, C; Jones, K L; Robinson, L; Viljoen, D

2000-01-01

OBJECTIVES: This study determined the characteristics of fetal alcohol syndrome in a South African community, and methodology was designed for the multidisciplinary study of fetal alcohol syndrome in developing societies. METHODS: An active case ascertainment, 2-tier methodology was used among 992 first-grade pupils. A case-control design, using measures of growth, development, dysmorphology, and maternal risk, delineated characteristics of children with fetal alcohol syndrome. RESULTS: A high rate of fetal alcohol syndrome was found in the schools--40.5 to 46.4 per 1000 children aged 5 to 9 years--and age-specific community rates (ages 6-7) were 39.2 to 42.9. These rates are 18 to 141 times greater than in the United States. Rural residents had significantly more fetal alcohol syndrome. After control for ethnic variation, children with fetal alcohol syndrome had traits similar to those elsewhere: poor growth and development, congruent dysmorphology, and lower intellectual functioning. CONCLUSIONS: This study documented the highest fetal alcohol syndrome rate to date in an overall community population. Fetal alcohol syndrome initiatives that incorporate innovative sampling and active case ascertainment methods can be used to obtain timely and accurate data among developing populations. PMID:11111264

Development of an HPV Educational Protocol for Adolescents

PubMed Central

Wetzel, Caitlin; Tissot, Abbigail; Kollar, Linda M.; Hillard, Paula A.; Stone, Rachel; Kahn, Jessica A.

2007-01-01

Study Objectives To develop an educational protocol about HPV and Pap tests for adolescents, to evaluate the protocol for understandability and clarity, and to evaluate the protocol for its effectiveness in increasing knowledge about HPV. Design In phase 1, investigators and adolescents developed the protocol. In phase 2, adolescents evaluated the protocol qualitatively, investigators evaluated its effectiveness in increasing HPV knowledge in a sample of adolescents, and the protocol was revised. In phase 3, investigators evaluated the effectiveness of the revised protocol in an additional adolescent sample. Setting Urban, hospital-based teen health center. Participants A total of 252 adolescent girls and boys in the three study phases. Main Outcome Measures Pre- and post-protocol knowledge about HPV, measured using a 10- or 11-item scale. Results Scores on the HPV knowledge scale increased significantly (p<.0001) among adolescents who participated in phases 2 and 3 after they received the protocol. Initial differences in scores based on race, insurance type and condom use were not noted post-protocol. Conclusion The protocol significantly increased knowledge scores about HPV in this population, regardless of sociodemographic characteristics and risk behaviors. Effective, developmentally appropriate educational protocols about HPV and Pap tests are particularly important in clinical settings as cervical cancer screening guidelines evolve, HPV DNA testing is integrated into screening protocols, and HPV vaccines become available. In-depth, one-on-one education about HPV may also prevent adverse psychosocial responses and promote healthy sexual and Pap screening behaviors in adolescents with abnormal HPV or Pap test results. Synopsis The investigators developed an educational protocol about HPV and Pap tests and evaluated its effectiveness in increasing knowledge about HPV among adolescents. PMID:17868894

Progestin-primed milder stimulation with clomiphene citrate yields fewer oocytes and suboptimal pregnancy outcomes compared with the standard progestin-primed ovarian stimulation in infertile women with polycystic ovarian syndrome.

PubMed

Ye, Hongjuan; Tian, Hui; He, Wen; Lyu, Qifeng; Kuang, Yanping; Chen, Qiuju; Sun, Lihua

2018-05-28

Oral progestin has recently been used to prevent premature LH surges in ovarian stimulation, and this progestin-primed ovarian stimulation (PPOS) is effective and safe in patients with different ovarian reserves. The current data are lacking regarding how to individualize the gonadotropin dose and regimen for women with polycystic ovarian syndrome (PCOS). A retrospective cohort trial was performed to evaluate the efficacy of progestin-primed milder stimulation with clomiphene citrate (CC) compared to the standard progestin-primed ovarian stimulation (PPOS) protocol for infertile women with PCOS. A total of 220 PCOS women were collected and classified into the study group (HMG 150 IU/d + CC 50 mg/d + MPA 10 mg/d) and control group (HMG 225 IU/d + MPA 10 mg/d). Ovulation was triggered by GnRH agonist 0.1 mg and hCG 1000 IU when dominant follicles matured. Viable embryos were cryopreserved for later transfer. The primary endpoint was the ongoing pregnancy rate. Secondary outcomes included the cycle characteristics and the live birth rate. The study group consumed less HMG (1470.0 ± 360.1 IU vs 1943.8 ± 372.0 IU, P < 0.001) and harvested fewer oocytes than the control group (12.2 ± 7.4 vs 18.2 ± 9.7, P < 0.001). The study group showed a higher mid-follicular LH concentration (4.49 ± 2.49 mIU/ml vs 2.52 ± 2.09 mIU/ml, P < 0.05) but no endogenous LH surge. No between-group difference was found in the incidence of ovarian hyperstimulation syndrome (OHSS) (0.91% vs 0.91%, P > 0.05). The cumulative ongoing pregnancy rate and live birth rate per patient were lower but did not reach significance compared with the control group (71.8% vs 81.8 and 64.5% vs 75.5%, respectively, both P > 0.05). The milder PPOS with CC in PCOS women led to lower oocyte yields and suboptimal pregnancy outcomes compared to the standard PPOS treatment. The two regimens both achieved a low incidence of OHSS. The results from the CC combination regimen provide a new insight for developing a more patient-friendly protocol for PCOS women.

[Effectiveness of a joint project between primary care and mental health to improve the recording of cardiovascular risk factors in patients with psychosis].

PubMed

Viñas Cabrera, Lidia; Fernández San-Martín, María Isabel; Martín López, Luis Miguel

2013-01-01

To evaluate the effectiveness of a joint team intervention between primary care (PC) and mental health (MH) to improve information on cardiovascular risk factors (CVRF) in psychotic patients. Multicenter before-after intervention study. Seven primary care and 2 mental health centers in Barcelona participated. All patients between 18-65 years old with a confirmed diagnosis of psychosis assigned to PC teams (n = 690) are included. Shared clinical sessions, developing a joint GP-MH protocol and implement it. Gender, age, number of Appointments per center/year, smoking, blood pressure, body mass index (BMI), total cholesterol, HDL cholesterol, triglycerides, glucose, waist circumference (WC), Cardiovascular Risk. Comparison of CVRF records from 2008 to 2010 using statistical tests for paired data. Calculation of CVRF prevalence in accordance with metabolic syndrome criteria and the criteria for referral to GP. The mean age was 42.3 (SD 11.4) years, with 67% males. All CVRF significantly Increased in clinical notes, particularly all blood test parameters and WC. More than 35% of patients had a CVRF according to metabolic syndrome criteria. Criteria to refer to PC physician (2010) identified: obesity 51.9%, 23.9% hypertension, high cholesterol 20.4% and 11.6% diabetes. CVRF recording improvement. High percentage of patients needed GP intervention due to a CVRF. Copyright © 2012 Elsevier España, S.L. All rights reserved.

Canine gastric dilatation/volvulus syndrome in a veterinary critical care unit: 295 cases (1986-1992).

PubMed

Brockman, D J; Washabau, R J; Drobatz, K J

1995-08-15

Two hundred ninety-five case records were included in an analysis of dogs treated by a standardized protocol for gastric dilatation/volvulus syndrome between 1986 and 1992. A breed predisposition was demonstrated for Great Danes, German Shepherd Dogs, large mixed-breed dogs, and Standard Poodles. One hundred and ninety-three dogs had gastric dilatation and volvulus (GDV) confirmed at surgery, 66 had simple gastric dilatation (GD), and 36 others had gastric dilatation but volvulus could not be proved or disproved (GD +/- V). Among dogs with GDV, the fatality rate was 15% (29/193). Twenty-six (13.5%) dogs with GDV underwent partial gastrectomy, and 8 (31%) died or were subsequently euthanatized. In comparing the group of dogs with GDV that survived to those that died, there were no statistical differences in the age of dog, time between onset of clinical signs and admission, time from admission to surgery, or duration of anesthesia. Cardiac arrhythmias were detected in 40% (78/193) of the dogs with GDV. There also was no statistical correlation between development of a cardiac arrhythmia and outcome in dogs with GDV. The causes of death in dogs with GDV were multiple and varied; presumed gastric necrosis was a common reason for intraoperative euthanasia (11 dogs). Among dogs with GD or GD +/- V, the fatality rate was 0.9% (1/102).

Neonatal abstinence syndrome: Historical perspective, current focus, future directions.

PubMed

Jones, Hendrée E; Fielder, Andrea

2015-11-01

Neonatal abstinence syndrome (NAS) occurs following prenatal opioid exposure. It is characterized by signs and symptoms indicating central nervous system hyperirritability and autonomic nervous system, gastrointestinal tract, and respiratory system dysfunction. This article: (1) briefly reviews NAS history, including initial identification, assessment, and treatment efforts; (2) summarizes the current status of and current issues surrounding recent NAS assessment and treatment, and (3) details future directions in NAS conceptualization, measurement, and treatment. Mortality rate estimates in neonates treated for NAS exceeded 33%, and surpassed 90% for un-treated infants during the late-1800s until the mid-1900s. The focus of both assessment and treatment over the past 50years is predominantly due to two forces. First, methadone pharmacotherapy for "heroin addiction" led to women in methadone maintenance programs who were, or became pregnant. The second was defining NAS and developing a measure of neonatal withdrawal, the Neonatal Abstinence Scoring System (NASS). Various NAS treatment protocols were based on the NASS as well as other NAS measures. Future research must focus on psychometrically sound screening and assessment measures of neonatal opioid withdrawal for premature, term and older infants, measuring and treating possible withdrawal from non-opioids, particularly benzodiazepines, integrated non-pharmacological treatment of NAS, weight-based versus symptom-based treatment of NAS, and second-line treatment for NAS. Copyright © 2015 Elsevier Inc. All rights reserved.

The Role of Thromboelastography in Pediatric Patients with Sinusoidal Obstructive Syndrome Receiving Defibrotide.

PubMed

Gendreau, Joanna L; Knoll, Christine; Adams, Roberta H; Su, Leon L

2017-04-01

Sinusoidal obstructive syndrome (SOS) is a potentially fatal form of hepatic injury after hematopoietic stem cell transplantation. Patients can develop liver dysfunction, portal hypertension, ascites, coagulopathies, and multisystem organ failure. The mortality rate of severe SOS has been reported as high as 98% by day 100 after transplantation. Defibrotide, which is now approved for the treatment of SOS, has significantly decreased mortality. Defibrotide is a polynucleotide with profibrinolytic, anti-ischemic, and anti-inflammatory activity. These properties can increase the risk of life-threatening bleeding in this patient population. Previous protocols have suggested maintaining international normalized ratio ≤ 1.5, platelets > 30 k/uL, and fibrinogen ≥ 150 mg/dL to minimize this risk of bleeding. However, this can be challenging in fluid-sensitive patients with SOS. Thromboelastography (TEG) is a functional assay that evaluates the balance of procoagulant and anticoagulant proteins. In this series, TEG was used to guide defibrotide therapy as well as blood product transfusions in SOS patients with abnormal coagulation studies. Each patient recovered from SOS and had no bleeding complications. A randomized clinical trial is the next step in supporting the use of TEG in SOS patients with abnormal coagulation studies receiving defibrotide therapy. Copyright © 2017 The American Society for Blood and Marrow Transplantation. Published by Elsevier Inc. All rights reserved.

Strategy for standardization of preeclampsia research study design.

PubMed

Myatt, Leslie; Redman, Christopher W; Staff, Anne Cathrine; Hansson, Stefan; Wilson, Melissa L; Laivuori, Hannele; Poston, Lucilla; Roberts, James M

2014-06-01

Preeclampsia remains a major problem worldwide for mothers and babies. Despite intensive study, we have not been able to improve the management or early recognition of preeclampsia. At least part of this is because of failure to standardize the approach to studying this complex syndrome. It is possible that within the syndrome there may be different phenotypes with pathogenic pathways that differ between the subtypes. The capacity to recognize and to exploit different subtypes is of obvious importance for prediction, prevention, and treatment. We present a strategy for research to study preeclampsia, which will allow discrimination of such possible subtypes and also allow comparison and perhaps combinations of findings in different studies by standardized data and biosample collection. To make studies relevant to current clinical practice, the definition of preeclampsia can be that currently used and accepted. However, more importantly, sufficient data should be collected to allow other diagnostic criteria to be used and applied retrospectively. To that end, we present what we consider to be the minimum requirements for a data set in a study of preeclampsia that will facilitate comparisons. We also present a comprehensive or optimal data set for in-depth investigation of pathophysiology. As we approach the definition of phenotypes of preeclampsia by clinical and biochemical criteria, adherence to standardized protocols will hasten our understanding of the causes of preeclampsia and development of targeted treatment strategies.

Use of Flowchart for Automation of Clinical Protocols in mHealth.

PubMed

Dias, Karine Nóra; Welfer, Daniel; Cordeiro d'Ornellas, Marcos; Pereira Haygert, Carlos Jesus; Dotto, Gustavo Nogara

2017-01-01

For healthcare professionals to use mobile applications we need someone who knows software development, provide them. In healthcare institutions, health professionals use clinical protocols to govern care, and sometimes these documents are computerized through mobile applications to assist them. This work aims to present a proposal of an application of flow as a way of describing clinical protocols for automatic generation of mobile applications to assist health professionals. The purpose of this research is to enable health professionals to develop applications from the description of their own clinical protocols. As a result, we developed a web system that automates clinical protocols for an Android platform, and we validated with two clinical protocols used in a Brazilian hospital. Preliminary results of the developed architecture demonstrate the feasibility of this study.

[Work-related musculoskeletal diseases: experience of INAIL of the Apulia region 1998-2001].

PubMed

Allamprese, P; Attimonelli, R; Gigante, M R; Soleo, L

2005-01-01

The insurance recognition of Work related Muscolo Skeletal Disorders (WMSDs) has been introduced in Italy by the sentences of Constitutional Court n. 179/1988 and 208/1988. Afterwards the National Insurance Institute against work injuries (INAIL) tried to make homogeneous, in the different INAIL regional Departments, the diagnostic protocol of the work related illness associated with repetitive manual activities. Since 1998, indeed, a clinical diagnostic protocol has been used in the different departments. This report describes the Work related Muscolo Skeletal Disorders submitted to the Apulian INAIL Regional Direction in the period 1998-2001. Among 84 cases of disease reported to the Regional Direction, 21 were recognised as professional illness, the most part of which in workers employed in services sector and mining activities. The most represented disease was carpal tunnel syndrome and it was more recurrent in men than in women, in which the first symptoms were earlier than in men. The most represented risk factor, both in reported and in recognised cases, was the presence of repetitive working movements of the upper extremities, or the combination of the previous one with other risk factors such as high frequency of working activities, postural risk, strength demand, vibrations, climatic conditions. The development of specific diagnostic criteria, the detailed job analysis and the use of specific questionnaires seem to be the main elements for the WMSDs diagnosis and for the recognition of their professional etiology.

New or Progressive Multiple Organ Dysfunction Syndrome in Pediatric Severe Sepsis: A Sepsis Phenotype With Higher Morbidity and Mortality.

PubMed

Lin, John C; Spinella, Philip C; Fitzgerald, Julie C; Tucci, Marisa; Bush, Jenny L; Nadkarni, Vinay M; Thomas, Neal J; Weiss, Scott L

2017-01-01

To describe the epidemiology, morbidity, and mortality of new or progressive multiple organ dysfunction syndrome in children with severe sepsis. Secondary analysis of a prospective, cross-sectional, point prevalence study. International, multicenter PICUs. Pediatric patients with severe sepsis identified on five separate days over a 1-year period. None. Of 567 patients from 128 PICUs in 26 countries enrolled, 384 (68%) developed multiple organ dysfunction syndrome within 7 days of severe sepsis recognition. Three hundred twenty-seven had multiple organ dysfunction syndrome on the day of sepsis recognition. Ninety-one of these patients developed progressive multiple organ dysfunction syndrome, whereas an additional 57 patients subsequently developed new multiple organ dysfunction syndrome, yielding a total proportion with severe sepsis-associated new or progressive multiple organ dysfunction syndrome of 26%. Hospital mortality in patients with progressive multiple organ dysfunction syndrome was 51% compared with patients with new multiple organ dysfunction syndrome (28%) and those with single-organ dysfunction without multiple organ dysfunction syndrome (10%) (p < 0.001). Survivors of new or progressive multiple organ dysfunction syndrome also had a higher frequency of moderate to severe disability defined as a Pediatric Overall Performance Category score of greater than or equal to 3 and an increase of greater than or equal to 1 from baseline: 22% versus 29% versus 11% for progressive, new, and no multiple organ dysfunction syndrome, respectively (p < 0.001). Development of new or progressive multiple organ dysfunction syndrome is common (26%) in severe sepsis and is associated with a higher risk of morbidity and mortality than severe sepsis without new or progressive multiple organ dysfunction syndrome. Our data support the use of new or progressive multiple organ dysfunction syndrome as an important outcome in trials of pediatric severe sepsis although efforts are needed to validate whether reducing new or progressive multiple organ dysfunction syndrome leads to improvements in more definitive morbidity and mortality endpoints.

Sudden arrhythmic death syndrome: diagnostic yield of comprehensive clinical evaluation of pediatric first-degree relatives.

PubMed

Giudici, Valentina; Spanaki, Adriani; Hendry, Jennifer; Mead-Regan, Sarah; Field, Ella; Zuccotti, Gian Vincenzo; Abrams, Dominic; Lowe, Martin; Kaski, Juan Pablo

2014-12-01

Sudden arrhythmic death syndrome (SADS) is most often caused by heritable cardiac diseases. Studies in adults have identified evidence of inherited cardiovascular diseases in up to 53% of families, but data on the prevalence of familial disease in children are scarce. The aim of this study was to evaluate the yield of clinical screening in pediatric first-degree relatives of victims of SADS using a systematic and comprehensive protocol. Patients referred for family screening after sudden cardiac death (SCD) of a family member were, retrospectively, enrolled into the study. Systematic evaluation of the children included clinical examination, family history, electrocardiogram (ECG), echocardiogram, 24-hour tape, and signal-averaged ECG. Older patients also underwent exercise testing, cardiac magnetic resonance imaging, and ajmaline provocation testing. A total of 90 children from 52 consecutive families were included in the study. An inherited cardiac disease was identified in seven first-degree children from seven (13.5%) families (five children were diagnosed with Brugada syndrome, one with long QT syndrome, and one with catecholaminergic polymorphic ventricular tachycardia). Two further children had late potentials on signal-averaged ECGs with no other abnormalities. These data show a high prevalence of inherited heart disease in pediatric first-degree relatives of SADS victims. The results highlight the importance of a systematic, comprehensive approach and ongoing screening of pediatric family members. ©2014 Wiley Periodicals, Inc.

Diagnostic accuracy of functional, imaging and biochemical tests for patients presenting with chest pain to the emergency department: A systematic review and meta-analysis.

PubMed

Iannaccone, Mario; Gili, Sebastiano; De Filippo, Ovidio; D'Amico, Salvatore; Gagliardi, Marco; Bertaina, Maurizio; Mazzilli, Silvia; Rettegno, Sara; Bongiovanni, Federica; Gatti, Paolo; Ugo, Fabrizio; Boccuzzi, Giacomo G; Colangelo, Salvatore; Prato, Silvia; Moretti, Claudio; D'Amico, Maurizio; Noussan, Patrizia; Garbo, Roberto; Hildick-Smith, David; Gaita, Fiorenzo; D'Ascenzo, Fabrizio

2018-01-01

Non-invasive ischaemia tests and biomarkers are widely adopted to rule out acute coronary syndrome in the emergency department. Their diagnostic accuracy has yet to be precisely defined. Medline, Cochrane Library CENTRAL, EMBASE and Biomed Central were systematically screened (start date 1 September 2016, end date 1 December 2016). Prospective studies (observational or randomised controlled trial) comparing functional/imaging or biochemical tests for patients presenting with chest pain to the emergency department were included. Overall, 77 studies were included, for a total of 49,541 patients (mean age 59.9 years). Fast and six-hour highly sensitive troponin T protocols did not show significant differences in their ability to detect acute coronary syndromes, as they reported a sensitivity and specificity of 0.89 (95% confidence interval 0.79-0.94) and 0.84 (0.74-0.9) vs 0.89 (0.78-0.94) and 0.83 (0.70-0.92), respectively. The addition of copeptin to troponin increased sensitivity and reduced specificity, without improving diagnostic accuracy. The diagnostic value of non-invasive tests for patients without troponin increase was tested. Coronary computed tomography showed the highest level of diagnostic accuracy (sensitivity 0.93 (0.81-0.98) and specificity 0.90 (0.93-0.94)), along with myocardial perfusion scintigraphy (sensitivity 0.85 (0.77-0.91) and specificity 0.92 (0.83-0.96)). Stress echography was inferior to coronary computed tomography but non-inferior to myocardial perfusion scintigraphy, while exercise testing showed the lower level of diagnostic accuracy. Fast and six-hour highly sensitive troponin T protocols provide an overall similar level of diagnostic accuracy to detect acute coronary syndrome. Among the non-invasive ischaemia tests for patients without troponin increase, coronary computed tomography and myocardial perfusion scintigraphy showed the highest sensitivity and specificity.

The investigation of life-threatening child abuse and Munchausen syndrome by proxy.

PubMed Central

Evans, D

1995-01-01

The use of covert video surveillance in the investigation of suspected life-threatening child abuse and Munchausen syndrome by proxy raises important ethical questions. That the recently reported provision of this facility in North Staffordshire was not presented to a Local Research Ethics Committee (LREC) for approval as a research exercise raises important questions about the ethical review of research and practice. The case made for avoiding such review is first set out and then examined. The three main premisses which form the basis of the view that LREC approval is not required are identified and tested in turn. The conclusion is that there is an undeniable element of research involved in the procedure and that the welfare of all those subjected to the surveillance would be best protected by the submission of the protocol to an independent committee for ethical assessment. PMID:7776355

Swyer Syndrome With Gonadoblastoma: A Clinicoradiological Approach.

PubMed

Agarwal, Arjit; Agarwal, Shubhra

2017-01-01

Primary amenorrhea is a common diagnostic challenge in the gynecology department, wherein there are numerous causes that need to be approached in a systematic manner. However, when a case with a pelvic lump or a solid pelvic mass presents to a gynecologist or a radiologist, the approach becomes difficult to justify amenorrhea and pelvic mass as a single entity. We present the case of a 36-year-old female with the complaints of primary amenorrhea with a pelvic mass. The case was approached keeping in view the diagnostic possibilities and applying the role of clinical, radiological, and laboratory analyses. The final diagnosis of Swyer syndrome with gonadoblastoma was made, and she was further subjected to operative resection and hormonal therapy. This study stresses on the approach to a case, wherein the diagnosis was based only on the clinician's acumen and the radiologist's expertise, providing a way to simplify the protocol in the evaluation of such types of cases.

Cushing Syndrome: Diagnostic Workup and Imaging Features, With Clinical and Pathologic Correlation.

PubMed

Wagner-Bartak, Nicolaus A; Baiomy, Ali; Habra, Mouhammed Amir; Mukhi, Shalini V; Morani, Ajaykumar C; Korivi, Brinda R; Waguespack, Steven G; Elsayes, Khaled M

2017-07-01

Cushing syndrome (CS) is a constellation of clinical signs and symptoms resulting from chronic exposure to excess cortisol, either exogenous or endogenous. Exogenous CS is most commonly caused by administration of glucocorticoids. Endogenous CS is subdivided into two types: adrenocorticotropic hormone (ACTH) dependent and ACTH independent. Cushing disease, which is caused by a pituitary adenoma, is the most common cause of ACTH-dependent CS for which pituitary MRI can be diagnostic, with bilateral inferior petrosal sinus sampling useful in equivocal cases. In ectopic ACTH production, which is usually caused by a tumor in the thorax (e.g., small cell lung carcinoma, bronchial and thymic carcinoids, or medullary thyroid carcinoma) or abdomen (e.g., gastroenteropancreatic neuroendocrine tumors or pheochromocytoma), CT, MRI, and nuclear medicine tests are used for localizing the source of ACTH. In ACTH-independent CS, which is caused by various adrenal abnormalities, adrenal protocol CT or MRI is usually diagnostic.

Suspension properties of whole blood and its components under glucose influence studied in patients with acute coronary syndrome

NASA Astrophysics Data System (ADS)

Malinova, Lidia I.; Simonenko, Georgy V.; Denisova, Tatyana P.; Dovgalevsky, Pavel Y.; Tuchin, Valery V.

2004-05-01

The protocol of our study includes men with acute myocardial infarction, stable angina pectoris of II and III functional classes and unstable angina pectoris. Patients with arterial hypertension, disorders in carbohydrate metabolism were excluded from the study. Blood samples taken under standardized conditions, were stabilized with citrate sodium 3,8% (1:9). Erythrocytes and platelets aggregation activity under glucose influence (in vitro) was studied by means of computer aided microphotometer -- a visual analyzer. Erythrocyte and platelets were united in special subsystem of whole blood. Temporal and functional characteristics of their aggregation were analyzed by creation of phase patterns fragments. The received data testify to interrelation of erythrocytes and platelets processes of aggregation under conditions of increasing of glucose concentration of the incubatory environment, which temporal and functional characteristics may be used for diagnostics and the prognosis of destabilization coronary blood flow at an acute coronary syndrome.

Plasmodium berghei ANKA (PbA) infection of C57BL/6J mice: a model of severe malaria.

PubMed

de Oca, Marcela Montes; Engwerda, Christian; Haque, Ashraful

2013-01-01

The term "severe malaria" refers to a wide spectrum of syndromes in Plasmodium-infected humans including cerebral malaria (CM), respiratory distress, severe anemia, liver dysfunction, and hypoglycemia. Mouse models have been employed to further our understanding of the pathology and immune responses that occur during Plasmodium infection. Evidence of brain, liver, lung, and spleen pathology, as well as anemia and tissue-sequestration of parasites, has been reported in various strains of inbred mice. While no single mouse model mimics all the various clinical manifestations of severe malaria in humans, here we describe a detailed protocol for Plasmodium berghei ANKA infection of C57BL/6J mice. For many years, this model has been referred to as "experimental cerebral malaria," but in fact recapitulates many of the symptoms and pathologies observed in most severe malaria syndromes.

Solitary Rectal Ulcer Syndrome: A Paediatric Case Report

PubMed Central

Abreu, Marlene; Azevedo Alves, Raquel; Pinto, João; Campos, Miguel; Aroso, Sofia

2017-01-01

Introduction Solitary rectal ulcer syndrome (SRUS) is an uncommon benign rectal disease. Mostly young adults are affected, and it is rare in paediatric populations. Clinical Case We present a 12-year-old girl with a 6-month history of tenesmus, frequent defaecation, and bloody stools with mucus. There was no previous history of constipation or other symptoms. At the first visit, physical examination and routine laboratory test results were normal. A stool examination for bacteria and parasites was negative. Colonoscopy revealed a single ulcer in the distal rectum 6 cm from the anal margin. SRUS was confirmed by biopsy. Despite conservative measures, the symptoms persisted. A defaecation proctography showed a small rectocele with no rectal mucosal prolapse. Because of its proximity to the anal sphincter, no surgical intervention was performed. Conclusion The present case illustrates how difficult the management of SRUS is. Multicentre studies are needed to establish treatment protocols for children. PMID:28848799

Effects of Different Resistance Training Protocols on Upper-Body Strength and Endurance Development in Children.

ERIC Educational Resources Information Center

Faigenbaum, Avery D.; Loud, Rita LaRosa; O'Connell, Jill; Glover, Scott; O'Connell, Jason; Westcott, Wayne L.

2001-01-01

Examined the effects of four resistance training protocols on upper body strength and muscular endurance development in children. Untrained children trained twice per week for 8 weeks, using general conditioning exercises and different upper-body conditioning protocols. Results indicated that higher-repetition training protocols enhanced…

Mother-Child Play: Children with Down Syndrome and Typical Development

ERIC Educational Resources Information Center

Venuti, P.; de Falco, S.; Esposito, G.; Bornstein, Marc H.

2009-01-01

Child solitary and collaborative mother-child play with 21 children with Down syndrome and 33 mental-age-matched typically developing children were compared. In solitary play, children with Down syndrome showed less exploratory but similar symbolic play compared to typically developing children. From solitary to collaborative play, children with…

Relationship between body weight and the increment in serum brain-derived neurotrophic factor after oral glucose challenge in men with obesity and metabolic syndrome: A prospective study.

PubMed

Lee, I-Te; Wang, Jun-Sing; Fu, Chia-Po; Lin, Shih-Yi; Sheu, Wayne Huey-Herng

2016-10-01

Brain-derived neurotrophic factor (BDNF) plays a role in energy homeostasis. However, the postprandial BDNF change has not been well investigated. We hypothesized that the BDNF increment after oral glucose challenge is associated with body weight.To address this possibility, man adults with obesity in conjunction with metabolic syndrome were compared with normal weight controls at baseline in the initial cross-sectional protocol. The obese subjects then underwent a 12-week program for body-weight reduction in the prospective protocol. The area under the curve (AUC) of serum BDNF was recorded during a 75 g oral glucose tolerant test and the BDNF AUC index was defined as [(AUC of BDNF) - (fasting BDNF2 hours)]/(fasting BDNF2 hours).A total of 25 controls and 36 obese subjects completed the study assessments. In the cross-sectional protocol, the BDNF AUC index was significantly higher in the obese subjects than in the controls (9.0 ± 16.5% vs. - 8.0 ± 22.5%, P = 0.001). After weight reduction (from 97.0 ± 12.5 kg to 88.6 ± 12.9 kg, P < 0.001), the percentage change of body weight was significantly associated with the BDNF AUC index after the study (95% CI between 0.21 and 1.82, P = 0.015). Using 6% weight reduction as a cut-off value, a larger weight reduction was able to reliably predict a negative BDNF AUC index.In conclusion, a high BDNF AUC index was observed for obese men in this study, whereas the index value significantly decreased after body-weight reduction. These findings suggest that postprandial BDNF increment may be associated with obesity.

Relationship between body weight and the increment in serum brain-derived neurotrophic factor after oral glucose challenge in men with obesity and metabolic syndrome

PubMed Central

Lee, I-Te; Wang, Jun-Sing; Fu, Chia-Po; Lin, Shih-Yi; Sheu, Wayne Huey-Herng

2016-01-01

Abstract Brain-derived neurotrophic factor (BDNF) plays a role in energy homeostasis. However, the postprandial BDNF change has not been well investigated. We hypothesized that the BDNF increment after oral glucose challenge is associated with body weight. To address this possibility, man adults with obesity in conjunction with metabolic syndrome were compared with normal weight controls at baseline in the initial cross-sectional protocol. The obese subjects then underwent a 12-week program for body-weight reduction in the prospective protocol. The area under the curve (AUC) of serum BDNF was recorded during a 75 g oral glucose tolerant test and the BDNF AUC index was defined as [(AUC of BDNF) − (fasting BDNF∗2 hours)]/(fasting BDNF∗2 hours). A total of 25 controls and 36 obese subjects completed the study assessments. In the cross-sectional protocol, the BDNF AUC index was significantly higher in the obese subjects than in the controls (9.0 ± 16.5% vs. − 8.0 ± 22.5%, P = 0.001). After weight reduction (from 97.0 ± 12.5 kg to 88.6 ± 12.9 kg, P < 0.001), the percentage change of body weight was significantly associated with the BDNF AUC index after the study (95% CI between 0.21 and 1.82, P = 0.015). Using 6% weight reduction as a cut-off value, a larger weight reduction was able to reliably predict a negative BDNF AUC index. In conclusion, a high BDNF AUC index was observed for obese men in this study, whereas the index value significantly decreased after body-weight reduction. These findings suggest that postprandial BDNF increment may be associated with obesity. PMID:27787389

Prominent Intrapulmonary Bronchopulmonary Anastomoses and Abnormal Lung Development in Infants and Children with Down Syndrome.

PubMed

Bush, Douglas; Abman, Steven H; Galambos, Csaba

2017-01-01

To determine the frequency of histologic features of impaired lung vascular and alveolar development and to identify the presence of intrapulmonary bronchopulmonary anastomoses (IBA) in infants and children who died with Down syndrome. A retrospective review of autopsy reports and lung histology from 13 children with Down syndrome (ages: 0-8 years) was performed. Histologic features of abnormal lung development were identified and semiquantified, including the presence of IBA. Three-dimensional reconstructions of IBA were also performed. Comparisons were made with 4 age-matched patients without Down syndrome with congenital heart defects who underwent autopsies during this time period. Of the 13 subjects with Down syndrome, 69% died from cardiac events, 77% had a congenital heart defect, and 46% had a clinical diagnosis of pulmonary hypertension. Lung histology from all subjects with Down syndrome demonstrated alveolar simplification, and 92% had signs of persistence of a double capillary network in the distal lung. The lungs from the subjects with Down syndrome frequently had features of pulmonary arterial hypertensive remodeling (85%), and prominent bronchial vessels and IBA were observed in all subjects with Down syndrome. These features were more frequent in subjects with Down syndrome compared with control subjects. Children with Down syndrome who died of cardiopulmonary diseases often have histologic evidence of impaired lung alveolar and vascular development, including the presence of prominent IBA and pulmonary hypertension. We speculate that children with Down syndrome are at risk for reduced lung surface area and recruitment of IBA, which may worsen gas exchange in subjects with Down syndrome. Copyright © 2016 Elsevier Inc. All rights reserved.

Demonstration of a quantum error detection code using a square lattice of four superconducting qubits

PubMed Central

Córcoles, A.D.; Magesan, Easwar; Srinivasan, Srikanth J.; Cross, Andrew W.; Steffen, M.; Gambetta, Jay M.; Chow, Jerry M.

2015-01-01

The ability to detect and deal with errors when manipulating quantum systems is a fundamental requirement for fault-tolerant quantum computing. Unlike classical bits that are subject to only digital bit-flip errors, quantum bits are susceptible to a much larger spectrum of errors, for which any complete quantum error-correcting code must account. Whilst classical bit-flip detection can be realized via a linear array of qubits, a general fault-tolerant quantum error-correcting code requires extending into a higher-dimensional lattice. Here we present a quantum error detection protocol on a two-by-two planar lattice of superconducting qubits. The protocol detects an arbitrary quantum error on an encoded two-qubit entangled state via quantum non-demolition parity measurements on another pair of error syndrome qubits. This result represents a building block towards larger lattices amenable to fault-tolerant quantum error correction architectures such as the surface code. PMID:25923200

Demonstration of a quantum error detection code using a square lattice of four superconducting qubits.

PubMed

Córcoles, A D; Magesan, Easwar; Srinivasan, Srikanth J; Cross, Andrew W; Steffen, M; Gambetta, Jay M; Chow, Jerry M

2015-04-29

The ability to detect and deal with errors when manipulating quantum systems is a fundamental requirement for fault-tolerant quantum computing. Unlike classical bits that are subject to only digital bit-flip errors, quantum bits are susceptible to a much larger spectrum of errors, for which any complete quantum error-correcting code must account. Whilst classical bit-flip detection can be realized via a linear array of qubits, a general fault-tolerant quantum error-correcting code requires extending into a higher-dimensional lattice. Here we present a quantum error detection protocol on a two-by-two planar lattice of superconducting qubits. The protocol detects an arbitrary quantum error on an encoded two-qubit entangled state via quantum non-demolition parity measurements on another pair of error syndrome qubits. This result represents a building block towards larger lattices amenable to fault-tolerant quantum error correction architectures such as the surface code.

Vestibular rehabilitation: clinical benefits to patients with Parkinson's disease.

PubMed

Zeigelboim, Bianca Simone; Klagenberg, Karlin Fabianne; Teive, Hélio A Ghizoni; Munhoz, Renato Puppi; Martins-Bassetto, Jackeline

2009-06-01

To evaluate the effectiveness of the vestibular rehabilitation (VR) exercises by means of an assessment before and after the application of the Brazilian version of the Dizziness Handicap Inventory (DHI) questionnaire. Twelve patients were studied, the following procedures were carried out: anamnesis, otorhinolaryngological and vestibular evaluation, and the application of the DHI before and after the VR. Clinically resting tremors and subjective postural instability were the motor complaints most frequently associated with complaints of vertigo in 12 cases (100%); in the vestibular exam, all the patients presented abnormalities, frequently from the uni and bilateral peripheral vestibular deficiency syndromes in 10 cases (83.3%); there was significant improvement in the physical, functional and emotional aspects of the DHI after the completion of the VR. The VR following the Cawthorne and Cooksey protocol were shown to be useful in managing subjective complaints of several aspects evaluated in this protocol.

Tracheostomy and mechanical ventilation weaning in children affected by respiratory virus according to a weaning protocol in a pediatric intensive care unit in Argentina: an observational restrospective trial

PubMed Central

2011-01-01

We describe difficult weaning after prolonged mechanical ventilation in three tracheostomized children affected by respiratory virus infection. Although the spontaneous breathing trials were successful, the patients failed all extubations. Therefore a tracheostomy was performed and the weaning plan was begun. The strategy for weaning was the decrease of ventilation support combining pressure control ventilation (PCV) with increasing periods of continuous positive airway pressure + pressure support ventilation (CPAP + PSV) and then CPAP + PSV with increasing intervals of T-piece. They presented acute respiratory distress syndrome on admission with high requirements of mechanical ventilation (MV). Intervening factors in the capabilities and loads of the respiratory system were considered and optimized. The average MV time was 69 days and weaning time 31 days. We report satisfactory results within the context of a directed weaning protocol. PMID:21244710

High prevalence of metabolic syndrome in antisynthetase syndrome.

PubMed

Araujo, Paula A O; Silva, Marilda Guimarães; Borba, Eduardo Ferreira; Shinjo, Samuel K

2018-01-01

A high frequency of metabolic syndrome (MetS) has been recently described in different idiopathic inflammatory myopathies, but not in antisynthetase syndrome (ASS). Therefore, the aim of the present study was to determine the prevalence of MetS in ASS and also its possible association with cardiovascular the risk factors and ASS-related disease characteristics. A cross-sectional single centre study of 42 consecutive ASS patients was conducted from 2012 to 2015 and compared to 84 healthy individuals matched for gender, age, ethnicity and body mass index-matched (control group). MetS was defined according to the 2009 Join Interim Statement. Clinical and laboratory data were assessed according to a standardised protocol. ASS patients had a median age of 41.1 years with a predominance of female gender and white race. ASS patients had a higher frequency of MetS (42.9% vs. 13.1%; p<0.001) as well as of insulin resistance than controls. Moreover, ASS patients had higher resistin, lower leptin and similar adiponectin levels in serum than controls. Further analysis of ASS patients with (n=18) and without (n=24) MetS revealed that older age at disease onset (48.7 vs. 35.4 years; p<0.001) was identified in those with the syndrome but were similar regarding disease duration, disease status, treatment, insulin resistance and serum adipocytokine levels. The prevalence of MetS was high in ASS patients that also had serum resistin and low leptin levels. As also identified in other idiopathic inflammatory myopathies, MetS in ASS is more prevalent in older patients.

The effects of abdominal lipectomy in metabolic syndrome components and insulin sensitivity in females: A systematic review and meta-analysis.

PubMed

Seretis, Konstantinos; Goulis, Dimitrios G; Koliakos, Georgios; Demiri, Efterpi

2015-12-01

Adipose tissue is an endocrine organ, which is implicated in the pathogenesis of obesity, metabolic syndrome and diabetes. Lipectomy offers a unique opportunity to permanently reduce the absolute number of fat cells, though its functional role remains unclear. This systematic and meta-analysis review aims to assess the effect of abdominal lipectomy on metabolic syndrome components and insulin sensitivity in women. A predetermined protocol, established according to the Cochrane Handbook's recommendations, was used. An electronic search in MEDLINE, Scopus, the Cochrane Library and CENTRAL electronic databases was conducted from inception to May 14, 2015. This search was supplemented by a review of reference lists of potentially eligible studies and a manual search of key journals in the field of plastic surgery. Eligible studies were prospective studies with ≥1month of follow-up that included females only who underwent abdominal lipectomy and reported on parameters of metabolic syndrome and insulin sensitivity. The systematic review included 11 studies with a total of 271 individuals. Conflicting results were revealed, though most studies showed no significant metabolic effects after lipectomy. The meta-analysis included 4 studies with 140 subjects. No significant changes were revealed between lipectomy and control groups. This meta-analysis provides evidence that abdominal lipectomy in females does not affect significantly the components of metabolic syndrome and insulin sensitivity. Further high quality studies are needed to elucidate the potential metabolic effects of abdominal lipectomy. Systematic review registration PROSPERO CRD42015017564 (www.crd.york.ac.uk/PROSPERO). Copyright © 2015 Elsevier Inc. All rights reserved.

A protocol for a trial of homeopathic treatment for irritable bowel syndrome

PubMed Central

2012-01-01

Background Irritable bowel syndrome is a chronic condition with no known cure. Many sufferers seek complementary and alternative medicine including homeopathic treatment. However there is much controversy as to the effectiveness of homeopathic treatment. This three-armed study seeks to explore the effectiveness of individualised homeopathic treatment plus usual care compared to both an attention control plus usual care and usual care alone, for patients with irritable bowel syndrome. Methods/design This is a three-armed pragmatic randomised controlled trial using the cohort multiple randomised trial methodology. Patients are recruited to an irritable bowel syndrome cohort from primary and secondary care using GP databases and consultants lists respectively. From this cohort patients are randomly selected to be offered, 5 sessions of homeopathic treatment plus usual care, 5 sessions of supportive listening plus usual care or usual care alone. The primary clinical outcome is the Irritable Bowel Syndrome Symptom Severity at 26 weeks. From a power calculation, it is estimated that 33 people will be needed for the homeopathic treatment arm and 132 for the usual care arm, to detect a minimal clinical difference at 80 percent power and 5 percent significance allowing for loss to follow up. An unequal group size has been used for reasons of cost. Analysis will be by intention to treat and will compare homeopathic treatment with usual care at 26 weeks as the primary analysis, and homeopathic treatment with supportive listening as an additional analysis. Discussion This trial has received NHS approval and results are expected in 2013. Trial registration Current Controlled Trials ISRCTN90651143 PMID:23131064

Prophylactic antidepressant treatment following acute coronary syndrome: A systematic review of randomized controlled trials.

PubMed

Christiansen, Ole G; Madsen, Michael T; Simonsen, Erik; Gögenur, Ismail

2017-11-01

Major depressive disorder is significantly increased in patients following acute coronary syndrome resulting in twofold increased mortality compared with patients without depression. The depression diagnosis is often missed leading to considerable undertreatment. This systematic review assesses the current evidence of primary prophylactic treatment of depression in patients after acute coronary syndrome. The study protocol was prospectively registered at PROSPERO (registration number CRD42015025587). A systematic review were conducted and reported according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. PubMed, Embase, PsychINFO, CINAHL, and Cochran Library was searched. Two independent reviewers screened the records. The inclusion criteria were randomized controlled trials on adult patients with acute coronary syndrome treated prophylactically with an antidepressant intervention of any kind. A validated assessment tool should measure depression and depressive symptoms. Languages were limited to articles written in English. Six articles were included. Four studies utilized different components of case and disease management, health coaching, or relaxational audiotapes as intervention compared with usual care or with no formal program of rehabilitation. None of the studies showed any significant prophylactic effect against depression. One study with a program of health education and counselling and another study with a pharmacological antidepressant showed significant prophylactic effect on depression and depressive symptoms. All six included studies were associated with high risk of bias. There is not strong evidence of the effects of any type of routine antidepressant prophylaxis in patients following acute coronary syndrome. Further high quality studies are warranted. Copyright © 2017 Elsevier Ltd. All rights reserved.

[Diagnostic performance of echocardiography in the follow-up of patients with toxic oil syndrome].

PubMed

Plaza Cano, María M; García de Albéniz Martínez, Xabier A; de Andrés Copa, Pilar; Braun Saro, Beatriz; Suárez Alvarez, Carmen; García de Aguinaga, María L; Estirado de Cabo, Eva; Guinea Esquerdo, Juan; Posada de la Paz, Manuel

2003-12-01

Toxic oil syndrome is an epidemic, multisystemic disease that appeared in Spain in 1981, and was caused by the consumption of rapeseed oil denatured with 2% aniline. The disease is similar to eosinophilia-myalgia syndrome. One of the cardiovascular disorders caused by this syndrome is pulmonary hypertension. We conducted a study to assess the validity of our indications for echocardiography in the follow-up of cardiovascular disorders in patients with this disease. These patients are followed at our center with a standardized protocol for annual check-ups. From December 1997 through July 2002, a total of 1993 patients were examined. In this period we performed a total of 487 echocardiographic studies in 424 patients. The clinical records were reviewed to assess the indications for echocardiography according to the most recent guidelines for the clinical application of echocardiography of the American College of Cardiology and American Heart Association, and the indications were grouped into several categories. The diagnosis was recorded from the cardiologist's reports at the hospital where echocardiography was done. We calculated the sensitivity, specificity and positive likelihood ratio. 67% of the echocardiographic examinations were indicated to investigate possible pulmonary hypertension. About one-tenth of the studies (476 studies, 9.9%) led to a diagnosis of pulmonary hypertension. Sensitivity was highest (83%) for suspected pulmonary hypertension. Specificity was very high for most of the other indications. This study does not allow us to draw general conclusions about the cardiovascular disorders associated with toxic oil syndrome. However, echocardiography appears to be a good follow-up technique to diagnose complications such as pulmonary hypertension in these patients.

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

[Atypical Guillain-Barre syndrome clustering: is it necessary to reconsider the diagnostic criteria and microbiological protocol?

PubMed

Dominguez-Mayoral, A; Gutierrez, C; Lopez-Dominguez, J M; Eichau, S; Abril, J; Navarro-Mascarell, G; Quesada-Garcia, M A; Ramos, M; Alvarez-Lopez, M; Menendez-De Leon, C; Izquierdo, G

2017-05-01

Guillain-Barre syndrome is classically defined as a symmetrical ascending acute polyradiculoneuropathy, although there are atypical variants that make diagnosis difficult. The medical data of six patients in our hospital area are collected during the first quarter of 2013. Lumbar punctures, imaging, neurophysiological studies, ganglioside antibodies and serologies have been proposed in all cases. We focus on the atypical features as late hyporeflexia, increased frequency of asymmetry and distal paresis and initial fever. From a neurophysiological point of view, all patients presented sensorimotor axonal forms. The most consistent datas in early studies is the F wave's alteration. A Miller Fisher variant associated with faciocervicobraquial paresis and cerebral reversible vasoconstriction syndrome has been detected. A bilateral brachial paresis and lumbar polyradiculopathy in the context of influenza A infection is other interesting case. The saltatory variant with cranial nerve involvement and lower limbs paresis has been demonstrated in one patient. Bands in cerebrospinal fluid are positive in three cases and anti-ganglioside antibodies in one patient. The syndrome of inappropriate secretion of antidiuretic hormone may explain some of the hyponatremias registered. The first line of treatment are inmunoglobulins in all patients. Plasmapheresis exchanges has been used as an additional therapy in four cases. These clusters of six axonal cases with atypical clinical features justifies the need for knowledge of these variants in order to achieve an early treatment. Late hyporeflexia and brachialfaciocervico, saltatory and lumbar forms should be considered in the spectrum of Guillain-Barre syndrome. The etiological study should rule out a lots of pathogens as influenza A.

Protocol standards and implementation within the digital engineering laboratory computer network (DELNET) using the universal network interface device (UNID). Part 2

NASA Astrophysics Data System (ADS)

Phister, P. W., Jr.

1983-12-01

Development of the Air Force Institute of Technology's Digital Engineering Laboratory Network (DELNET) was continued with the development of an initial draft of a protocol standard for all seven layers as specified by the International Standards Organization's (ISO) Reference Model for Open Systems Interconnections. This effort centered on the restructuring of the Network Layer to perform Datagram routing and to conform to the developed protocol standards and actual software module development of the upper four protocol layers residing within the DELNET Monitor (Zilog MCZ 1/25 Computer System). Within the guidelines of the ISO Reference Model the Transport Layer was developed utilizing the Internet Header Format (IHF) combined with the Transport Control Protocol (TCP) to create a 128-byte Datagram. Also a limited Application Layer was created to pass the Gettysburg Address through the DELNET. This study formulated a first draft for the DELNET Protocol Standard and designed, implemented, and tested the Network, Transport, and Application Layers to conform to these protocol standards.

Systematic Review of the Relation Between Intestinal Microbiota and Toll-Like Receptors in the Metabolic Syndrome: What Do We Know So Far?

PubMed

Portela-Cidade, José Pedro; Borges-Canha, Marta; Leite-Moreira, Adelino Ferreira; Pimentel-Nunes, Pedro

2015-01-01

Metabolic syndrome is an emerging problem in developed countries and presents itself as a potential threat worldwide. The role of diabetes, dyslipidaemia and hepatic steatosis as pivotal components of the metabolic syndrome is well known. However, their common persistent chronic inflammation and its potential cause still elude. This systematic review aims to present evidence of the mechanisms that link the intestinal microbioma, innate immunity and metabolic syndrome. A comprehensive research was made using PubMed database and 35 articles were selected. We found that metabolic syndrome is associated to increased levels of innate immunity receptors, namely, Toll-like receptors, both in intestine and systemically and its polymorphisms may change the risk of metabolic syndrome development. Microbioma dysbiosis is also present in metabolic syndrome, with lower prevalence of Bacteroidetes and increased prevalence of Firmicutes populations. The data suggest that the link between intestinal microbiota and Toll-like receptors can negatively endanger the metabolic homeostasis. Current evidence suggests that innate immunity and intestinal microbiota may be the hidden link in the metabolic syndrome development mechanisms. In the near future, this can be the key in the development of new prophylactic and therapeutic strategies to treat metabolic syndrome patients.

Lung recruitability is better estimated according to the Berlin definition of acute respiratory distress syndrome at standard 5 cm H2O rather than higher positive end-expiratory pressure: a retrospective cohort study.

PubMed

Caironi, Pietro; Carlesso, Eleonora; Cressoni, Massimo; Chiumello, Davide; Moerer, Onner; Chiurazzi, Chiara; Brioni, Matteo; Bottino, Nicola; Lazzerini, Marco; Bugedo, Guillermo; Quintel, Michael; Ranieri, V Marco; Gattinoni, Luciano

2015-04-01

The Berlin definition of acute respiratory distress syndrome has introduced three classes of severity according to PaO2/FIO2 thresholds. The level of positive end-expiratory pressure applied may greatly affect PaO2/FIO2, thereby masking acute respiratory distress syndrome severity, which should reflect the underlying lung injury (lung edema and recruitability). We hypothesized that the assessment of acute respiratory distress syndrome severity at standardized low positive end-expiratory pressure may improve the association between the underlying lung injury, as detected by CT, and PaO2/FIO2-derived severity. Retrospective analysis. Four university hospitals (Italy, Germany, and Chile). One hundred forty-eight patients with acute lung injury or acute respiratory distress syndrome according to the American-European Consensus Conference criteria. Patients underwent a three-step ventilator protocol (at clinical, 5 cm H2O, or 15 cm H2O positive end-expiratory pressure). Whole-lung CT scans were obtained at 5 and 45 cm H2O airway pressure. Nine patients did not fulfill acute respiratory distress syndrome criteria of the novel Berlin definition. Patients were then classified according to PaO2/FIO2 assessed at clinical, 5 cm H2O, or 15 cm H2O positive end-expiratory pressure. At clinical positive end-expiratory pressure (11±3 cm H2O), patients with severe acute respiratory distress syndrome had a greater lung tissue weight and recruitability than patients with mild or moderate acute respiratory distress syndrome (p<0.001). At 5 cm H2O, 54% of patients with mild acute respiratory distress syndrome at clinical positive end-expiratory pressure were reclassified to either moderate or severe acute respiratory distress syndrome. In these patients, lung recruitability and clinical positive end-expiratory pressure were higher than in patients who remained in the mild subgroup (p<0.05). When patients were classified at 5 cm H2O, but not at clinical or 15 cm H2O, lung recruitability linearly increases with acute respiratory distress syndrome severity (5% [2-12%] vs 12% [7-18%] vs 23% [12-30%], respectively, p<0.001). The potentially recruitable lung was the only CT-derived variable independently associated with ICU mortality (p=0.007). The Berlin definition of acute respiratory distress syndrome assessed at 5 cm H2O allows a better evaluation of lung recruitability and edema than at higher positive end-expiratory pressure clinically set.

Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance.

PubMed

Lacombe, D; Patton, M A; Elleau, C; Battin, J

1995-08-01

The Floating-Harbor syndrome is a growth retardation syndrome with delayed bone age, speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips. We present an additional patient and review 16 cases from the literature. The possible phenotype in the patient's mother suggests a dominant mode of inheritance for the syndrome. The Floating Harbor syndrome is a growth deficiency syndrome characterized by proportionate short stature, characteristic face and delayed speech development. Inheritance is possibly autosomal dominant.

Serial Manifestation of Acute Kidney Injury and Nephrotic Syndrome in a Patient with TAFRO syndrome.

PubMed

Ito, Seigo; Uchida, Takahiro; Itai, Hiroki; Yamashiro, Aoi; Yamagata, Akira; Matsubara, Hidehito; Imakiire, Toshihiko; Shimazaki, Hideyuki; Kumagai, Hiroo; Oshima, Naoki

2018-06-06

A 76-year-old woman suddenly developed anasarca and a fever, and an examination revealed thrombocytopenia, reticulin fibrosis, and acute kidney injury, yielding the diagnosis of TAFRO syndrome. Renal replacement therapy and steroid treatment were soon started. Her proteinuria was minor at first; however, once the kidney function improved, nephrotic syndrome occurred. A kidney biopsy showed membranoproliferative glomerulonephritis-like glomerulopathy with massive macrophage infiltration. Although kidney dysfunction is often observed in TAFRO syndrome patients, its detailed mechanism is unclear. This case suggests that TAFRO syndrome involves both acute kidney injury with minor proteinuria and nephrotic syndrome, and these disorders can develop serially in the same patient.

Impact of upper airway abnormalities on the success and adherence to mandibular advancement device treatment in patients with Obstructive Sleep Apnea Syndrome.

PubMed

Prescinotto, Renato; Haddad, Fernanda Louise Martinho; Fukuchi, Ilana; Gregório, Luiz Carlos; Cunali, Paulo Afonso; Tufik, Sérgio; Bittencourt, Lia Rita Azeredo

2015-01-01

The mandibular advancement device (MAD) is a option to treat patients with Obstructive Sleep Apnea Syndrome (OSAS). To assess the influence of upper airway abnormalities on the success of and adherence to MAD in patients with OSAS. Prospective study with 30 patients with mild to moderate OSAS and indications for MAD. The protocol included questionnaires addressing sleep and nasal complaints, polysomnography, and upper airway assessment. The analyzed parameters of patients who showed therapeutic success and failure and those who exhibited good and poor treatment adherence were compared. 28 patients completed the protocol; 64.3% responded successfully to treatment with MAD, and 60.7% exhibited good adherence to treatment. Factors associated with greater success rates were younger age (p=0.02), smaller cervical circumference (p=0.05), and lower AHI at baseline (p=0.05). There was a predominance of patients without nasal abnormalities among patients treated successfully compared to those with treatment failure (p=0.04), which was not observed in relation to adherence. Neither pharyngeal nor facial skeletal abnormalities were significantly associated with either therapeutic success or adherence. MAD treatment success was significantly lower among patients with nasal abnormalities; however, treatment adherence was not influenced by the presence of upper airway or facial skeletal abnormalities. Copyright © 2015 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

Catatonia in Resource Limited Settings: A Case Series and Treatment Protocol

PubMed Central

Smith, Stephanie L.; Grelotti, David J.; Fils-Aime, Reginald; Uwimana, Eugenie; Ndikubwimana, Jean-Sauveur; Therosme, Tatiana; Severe, Jennifer; Dushimiyimana, Dominique; Uwamariya, Clemence; Bienvenu, Robert; Alcindor, Yoldie; Eustache, Eddy; Raviola, Giuseppe J.; Fricchione, Gregory L.

2014-01-01

Objective The Catatonic Syndrome (“catatonia”) is characterized by motor and motivation dysregulation and is associated with a number of neuropsychiatric and medical disorders. It is recognizable in a variety of clinical settings. We present observations from the treatment of four individuals with catatonia in Haiti and Rwanda, and introduce a treatment protocol for use in resource limited settings Methods Four patients from rural Haiti and Rwanda with clinical signs of catatonia and a positive screen using the Bush-Francis-Catatonia Rating Scale were treated collaboratively by general physicians and mental health clinicians with either lorazepam or diazepam. Success in treatment was clinically assessed by complete remittance of catatonia symptoms. Results The four patients in this report exhibited a range of characteristic and recognizable signs of catatonia, including immobility/stupor, stereotypic movements, echophenomena, posturing, odd mannerisms, mutism, and refusal to eat or drink. All four cases presented initially to rural outpatient general health services in low resource settings. In some cases, diagnostic uncertainty initially led to treatment with typical antipsychotics. In each case, proper identification and treatment of catatonia with benzodiazepines led to significant clinical improvement. Conclusion Catatonia can be effectively and inexpensively treated in resource limited settings. Identification and management of catatonia is critical for the health and safety of patients with this syndrome. Familiarity with the clinical features of catatonia is essential for health professionals working in low resource settings. To facilitate early recognition of this treatable disorder, catatonia should feature more prominently in global mental health discourse. PMID:25467078