Implementing a Mobility Program to Minimize Post-Intensive Care Syndrome.

PubMed

Hopkins, Ramona O; Mitchell, Lorie; Thomsen, George E; Schafer, Michele; Link, Maggie; Brown, Samuel M

2016-01-01

Immobility in the intensive care unit (ICU) is associated with neuromuscular weakness, post-intensive care syndrome, functional limitations, and high costs. Early mobility-based rehabilitation in the ICU is feasible and safe. Mobility-based rehabilitation varied widely across 5 ICUs in 1 health care system, suggesting a need for continuous training and evaluation to maintain a strong mobility-based rehabilitation program. Early mobility-based rehabilitation shortens ICU and hospital stays, reduces delirium, and increases muscle strength and the ability to ambulate. Long-term effects include increased ability for self-care, faster return to independent functioning, improved physical function, and reduced hospital readmission and death. Factors that influence early mobility-based rehabilitation include having an interdisciplinary team; strong unit leadership; access to physical, occupational, and respiratory therapists; a culture focused on patient safety and quality improvement; a champion of early mobility; and a focus on measuring performance and outcomes.

Preoperative Detailed Coagulation Tests Are Required in Patients With Noonan Syndrome.

PubMed

Morice, Anne; Harroche, Annie; Cairet, Pascale; Khonsari, Roman H

2017-12-29

Patients with Noonan syndrome often require surgery at young ages. They are at high risk of perioperative bleeding from coagulation defects that might not have been detected by routine screening. These risks are rarely described in the oral and maxillofacial surgery (OMS) literature. The aim of this study was to evaluate the perioperative bleeding risks associated with Noonan syndrome and to propose preoperative guidelines. This report describes a retrospective case series of patients with Noonan syndrome who underwent OMS procedures during a continuous observational period (2013 through 2016) in the authors' center. Clinical data, blood screening test results, and perioperative bleeding were analyzed. Five patients (age, 4 to 20 yr) with Noonan syndrome who underwent OMS procedures were included in this study. One patient presented a spontaneous bleeding tendency (epistaxis requiring cauterization). Blood screening showed clotting defects in 3 patients. One patient presented abnormal perioperative bleeding owing to a mild defect in factor XI. Patients with Noonan syndrome must be referred to a hematologist for specific preoperative investigations and for adapted perioperative management. Copyright © 2017 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

High- and moderate-intensity aerobic exercise and excess post-exercise oxygen consumption in men with metabolic syndrome.

PubMed

Larsen, I; Welde, B; Martins, C; Tjønna, A E

2014-06-01

Physical activity is central in prevention and treatment of metabolic syndrome. High-intensity aerobic exercise can induce larger energy expenditure per unit of time compared with moderate-intensity exercise. Furthermore, it may induce larger energy expenditure at post-exercise recovery. The aim of this study is to compare the excess post-exercise oxygen consumption (EPOC) in three different aerobic exercise sessions in men with metabolic syndrome. Seven men (age: 56.7 ± 10.8) with metabolic syndrome participated in this crossover study. The sessions consisted of one aerobic interval (1-AIT), four aerobic intervals (4-AIT), and 47-min continuous moderate exercise (CME) on separate days, with at least 48 h between each test day. Resting metabolic rate (RMR) was measured pre-exercise and used as baseline value. EPOC was measured until baseline metabolic rate was re-established. An increase in O2 uptake lasting for 70.4 ± 24.8 min (4-AIT), 35.9 ± 17.3 min (1-AIT), and 45.6 ± 17.3 min (CME) was observed. EPOC were 2.9 ± 1.7 L O2 (4-AIT), 1.3 ±  .1 L O2 (1-AIT), and 1.4 ± 1.1 L O2 (CME). There were significant differences (P < 0.001) between 4-AIT, CME, and 1-AIT. Total EPOC was highest after 4-AIT. These data suggest that exercise intensity has a significant positive effect on EPOC in men with metabolic syndrome. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Exercise Intensity and Incidence of Metabolic Syndrome: The SUN Project.

PubMed

Hidalgo-Santamaria, María; Fernandez-Montero, Alejandro; Martinez-Gonzalez, Miguel A; Moreno-Galarraga, Laura; Sanchez-Villegas, Almudena; Barrio-Lopez, María T; Bes-Rastrollo, Maira

2017-04-01

Emerging evidence suggests that vigorous physical activity may be associated with higher cardioprotective benefits than moderate physical activity. This study aimed to assess the long-term relationship between the intensity of leisure time physical activity (LTPA) and the risk of developing metabolic syndrome (MS) in a prospective cohort study. The Seguimiento Universidad de Navarra (SUN) Project comprises Spanish university graduates. Participants (n=10,145) initially free of MS were followed for a minimum of 6 years (2008-2014). Analysis was conducted in 2015. Physical activity was assessed though a validated questionnaire. The intensity of each physical activity was measured in METs. The intensity of LTPA was estimated by the ratio between total METs/week and total hours of LTPA/week, obtaining the mean METs/hour of LTPA. MS was defined according to the harmonizing definition. The association between the intensity of LTPA (METs/hour) and MS was assessed with logistic regression models adjusting for potential confounders. Among 10,145 participants initially free of any MS criteria, 412 new MS cases were observed. Vigorous LTPA was associated with a 37% relatively lower risk (AOR=0.63, 95% CI=0.44, 0.89) compared with light LTPA. For a given total energy expenditure, independent of the time spent on it, participants who performed vigorous LTPA exhibited a higher reduction in the risk of MS than those who performed light to moderate LTPA. Vigorous LTPA was significantly associated with lower risk of developing MS after a 6-year follow-up period. Copyright © 2016 American Journal of Preventive Medicine. Published by Elsevier Inc. All rights reserved.

Severe Legionnaire's disease requiring intensive care treatment.

PubMed

van Riemsdijk-van Overbeeke, I C; van den Berg, B

1996-11-01

Legionnaire's disease is well known as severe pneumonia requiring intensive care treatment in many cases. In this study the clinical course is described of patients admitted to the medical ICU of the University Hospital of Rotterdam for respiratory distress due to Legionnaire's disease. From the register of admissions to the medical ICU all patients suffering from Legionnaire's disease were identified. All data on clinical signs and symptoms present on admission were collected. The circumstances in which the infections were contracted were sought, as well as the tests establishing the diagnosis. The occurrence of various organ failures and complications were noted, as were the causes of death on the ICU. From 1978 till 1995 the diagnosis of Legionella pneumonia was made in 17 patients admitted to the ICU: in 13 patients a community-acquired infection was established. As in 12 patients Legionnaire's disease was diagnosed on serological tests, it took several weeks before the diagnosis could be established in these patients. In all patients the circumstances predisposing to Legionnaire's disease were noted. Respiratory distress was present in all patients, ventilatory support was required in 14. Apart from this, both profound shock and renal failure were commonly encountered. As complications jaundice, rhabdomyolysis and polyneuropathy were frequently noted. Three patients died: 2 due to irreversible shock and 1 due to hospital-acquired sepsis. Legionnaire's disease can develop into life-threatening pneumonia requiring intensive care treatment in previously healthy subjects. As the clinical features are aspecific, careful search for predisposing circumstances such as recent travel or use of a contaminated water-supply is mandatory. As the diagnosis required positive serological tests in most patients, a considerable delay in diagnosis was noted. Despite the frequent occurrence of multiple organ failure, a favourable outcome can be anticipated in most cases.

[Structure and functional organization of integrated cardiac intensive care].

PubMed

Scherillo, Marino; Miceli, Domenico; Tubaro, Marco; Guiducci, Umberto

2007-05-01

The early invasive strategy for the treatment of acute coronary syndromes and the increasing number of older and sicker patients requiring prolonged and more complex intensive care have induced many changes in the function of the intensive care units. These changes include the statement that specially trained cardiologists and cardiac nurses who can manage patients with acute cardiac conditions should staff the intensive care units. This document indicates the structure of the units and specific recommendations for the number of beds, monitoring system, respirators, pacemaker/defibrillators and additional equipment.

Effects of High Intensity Interval Training and Strength Training on Metabolic, Cardiovascular and Hormonal Outcomes in Women with Polycystic Ovary Syndrome: A Pilot Study.

PubMed

Almenning, Ida; Rieber-Mohn, Astrid; Lundgren, Kari Margrethe; Shetelig Løvvik, Tone; Garnæs, Kirsti Krohn; Moholdt, Trine

2015-01-01

Polycystic ovary syndrome is a common endocrinopathy in reproductive-age women, and associates with insulin resistance. Exercise is advocated in this disorder, but little knowledge exists on the optimal exercise regimes. We assessed the effects of high intensity interval training and strength training on metabolic, cardiovascular, and hormonal outcomes in women with polycystic ovary syndrome. Three-arm parallel randomized controlled trial. Thirty-one women with polycystic ovary syndrome (age 27.2 ± 5.5 years; body mass index 26.7 ± 6.0 kg/m2) were randomly assigned to high intensity interval training, strength training, or a control group. The exercise groups exercised three times weekly for 10 weeks. The main outcome measure was change in homeostatic assessment of insulin resistance (HOMA-IR). HOMA-IR improved significantly only after high intensity interval training, by -0.83 (95% confidence interval [CI], -1.45, -0.20), equal to 17%, with between-group difference (p = 0.014). After high intensity interval training, high-density lipoprotein cholesterol increased by 0.2 (95% CI, 0.02, 0.5) mmol/L, with between group difference (p = 0.04). Endothelial function, measured as flow-mediated dilatation of the brachial artery, increased significantly after high intensity interval training, by 2.0 (95% CI, 0.1, 4.0) %, between-group difference (p = 0.08). Fat percentage decreased significantly after both exercise regimes, without changes in body weight. After strength training, anti-Müllarian hormone was significantly reduced, by -14.8 (95% CI, -21.2, -8.4) pmol/L, between-group difference (p = 0.04). There were no significant changes in high-sensitivity C-reactive protein, adiponectin or leptin in any group. High intensity interval training for ten weeks improved insulin resistance, without weight loss, in women with polycystic ovary syndrome. Body composition improved significantly after both strength training and high intensity interval training. This pilot study

Facial emotion perception by intensity in children and adolescents with 22q11.2 deletion syndrome.

PubMed

Leleu, Arnaud; Saucourt, Guillaume; Rigard, Caroline; Chesnoy, Gabrielle; Baudouin, Jean-Yves; Rossi, Massimiliano; Edery, Patrick; Franck, Nicolas; Demily, Caroline

2016-03-01

Difficulties in the recognition of emotions in expressive faces have been reported in people with 22q11.2 deletion syndrome (22q11.2DS). However, while low-intensity expressive faces are frequent in everyday life, nothing is known about their ability to perceive facial emotions depending on the intensity of expression. Through a visual matching task, children and adolescents with 22q11.2DS as well as gender- and age-matched healthy participants were asked to categorise the emotion of a target face among six possible expressions. Static pictures of morphs between neutrality and expressions were used to parametrically manipulate the intensity of the target face. In comparison to healthy controls, results showed higher perception thresholds (i.e. a more intense expression is needed to perceive the emotion) and lower accuracy for the most expressive faces indicating reduced categorisation abilities in the 22q11.2DS group. The number of intrusions (i.e. each time an emotion is perceived as another one) and a more gradual perception performance indicated smooth boundaries between emotional categories. Correlational analyses with neuropsychological and clinical measures suggested that reduced visual skills may be associated with impaired categorisation of facial emotions. Overall, the present study indicates greater difficulties for children and adolescents with 22q11.2DS to perceive an emotion in low-intensity expressive faces. This disability is subtended by emotional categories that are not sharply organised. It also suggests that these difficulties may be associated with impaired visual cognition, a hallmark of the cognitive deficits observed in the syndrome. These data yield promising tracks for future experimental and clinical investigations.

Neuromuscular Strain Increases Symptom Intensity in Chronic Fatigue Syndrome

PubMed Central

Rowe, Peter C.; Fontaine, Kevin R.; Lauver, Megan; Jasion, Samantha E.; Marden, Colleen L.; Moni, Malini; Thompson, Carol B.; Violand, Richard L.

2016-01-01

Chronic fatigue syndrome (CFS) is a complex, multisystem disorder that can be disabling. CFS symptoms can be provoked by increased physical or cognitive activity, and by orthostatic stress. In preliminary work, we noted that CFS symptoms also could be provoked by application of longitudinal neural and soft tissue strain to the limbs and spine of affected individuals. In this study we measured the responses to a straight leg raise neuromuscular strain maneuver in individuals with CFS and healthy controls. We randomly assigned 60 individuals with CFS and 20 healthy controls to either a 15 minute period of passive supine straight leg raise (true neuromuscular strain) or a sham straight leg raise. The primary outcome measure was the symptom intensity difference between the scores during and 24 hours after the study maneuver compared to baseline. Fatigue, body pain, lightheadedness, concentration difficulties, and headache scores were measured individually on a 0–10 scale, and summed to create a composite symptom score. Compared to individuals with CFS in the sham strain group, those with CFS in the true strain group reported significantly increased body pain (P = 0.04) and concentration difficulties (P = 0.02) as well as increased composite symptom scores (all P = 0.03) during the maneuver. After 24 hours, the symptom intensity differences were significantly greater for the CFS true strain group for the individual symptom of lightheadedness (P = 0.001) and for the composite symptom score (P = 0.005). During and 24 hours after the exposure to the true strain maneuver, those with CFS had significantly higher individual and composite symptom intensity changes compared to the healthy controls. We conclude that a longitudinal strain applied to the nerves and soft tissues of the lower limb is capable of increasing symptom intensity in individuals with CFS for up to 24 hours. These findings support our preliminary observations that increased mechanical sensitivity may be a

Neonates with Bartter syndrome have enormous fluid and sodium requirements.

PubMed

Azzi, Antonio; Chehade, Hassib; Deschênes, Georges

2015-07-01

Managing neonatal Bartter syndrome by achieving adequate weight gain is challenging. We assessed the correlation between weight gain in neonatal Bartter syndrome and the introduction of fluid and sodium supplementations and indomethacin during the first 4 weeks of life. Daily fluid and electrolytes requirements were analysed using linear regression and Spearman correlation coefficients. The weight gain coefficient was calculated as daily weight gain after physiological neonatal weight loss. We studied seven infants. The highest weight gain coefficients occurred between weeks two and four in the five neonates who either received prompt amounts of fluid (maximum 810 mL/kg/day) and sodium (maximum 70 mmol/kg/day) or were treated with indomethacin. For the two patients with the highest weight gain coefficient, water and sodium supplementations were decreased in weeks two to four leading to a significant negative Spearman correlation between weight gain and fluid supplements (r = -0.55 and -0.68) and weight gain and sodium supplementations (r = -0.96 and -0.72). The two patients with the lowest weight gain coefficient had positive Spearman correlation coefficients between weight gain and fluid and sodium supplementations. Infants with neonatal Bartter syndrome required rapid and enormous fluid and sodium supplementations or the early introduction of indomethacin treatment to achieve adequate weight gain during the early postnatal period. ©2015 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

Refeeding syndrome influences outcome of anorexia nervosa patients in intensive care unit: an observational study

PubMed Central

2010-01-01

Introduction Data on the epidemiology and management of anorexia nervosa (AN) in the intensive care unit (ICU) are scarce. The aim of this study was to evaluate the prevalence and associated morbidity and mortality of AN in French ICUs. Methods We randomly selected 30 ICUs throughout France. Thereafter, we retrospectively analyzed all patients with AN admitted to any of these 30 ICUs between May 2006 and May 2008. We considered demographic data, diagnosis at admission and complications occurring during the stay, focusing on refeeding syndrome and management of refeeding. Results Eleven of the 30 ICUs participated in the retrospective study, featuring 68 patients, including 62 women. Average body mass index at the admission was 12 ± 3 kg/m2. Twenty one were mechanically ventilated, mainly for neurological reasons. The reported average calorie intake was 22.3 ± 13 kcal/kg/24 h. Major diagnoses at admission were metabolic problems, refeeding survey and voluntary drug intoxication and infection. The most common complications were metabolic, hematological, hepatic, and infectious events, of which 10% occurred during refeeding. Seven patients developed refeeding syndrome. At day one, the average calorie intake was higher for patients who developed refeeding syndrome (23.2 ± 5 Kcal/kg/j; n = 7) versus patients without refeeding syndrome (14.1 ± 3 Kcal/kg/j; n = 61) P = 0.02. Seven patients died, two from acute respiratory distress syndrome and five from multiorgan-failure associated with major hydroelectrolytic problems. Conclusions The frequency of AN in ICU patients is very low and the crude mortality in this group is about 10%. Prevention and early-detection of refeeding syndrome is the key point. PMID:20920160

Refeeding syndrome influences outcome of anorexia nervosa patients in intensive care unit: an observational study.

PubMed

Vignaud, Marie; Constantin, Jean-Michel; Ruivard, Marc; Villemeyre-Plane, Michele; Futier, Emmanuel; Bazin, Jean-Etienne; Annane, Djillali

2010-01-01

Data on the epidemiology and management of anorexia nervosa (AN) in the intensive care unit (ICU) are scarce. The aim of this study was to evaluate the prevalence and associated morbidity and mortality of AN in French ICUs. We randomly selected 30 ICUs throughout France. Thereafter, we retrospectively analyzed all patients with AN admitted to any of these 30 ICUs between May 2006 and May 2008. We considered demographic data, diagnosis at admission and complications occurring during the stay, focusing on refeeding syndrome and management of refeeding. Eleven of the 30 ICUs participated in the retrospective study, featuring 68 patients, including 62 women. Average body mass index at the admission was 12 ± 3 kg/m2. Twenty one were mechanically ventilated, mainly for neurological reasons. The reported average calorie intake was 22.3 ± 13 kcal/kg/24 h. Major diagnoses at admission were metabolic problems, refeeding survey and voluntary drug intoxication and infection. The most common complications were metabolic, hematological, hepatic, and infectious events, of which 10% occurred during refeeding. Seven patients developed refeeding syndrome. At day one, the average calorie intake was higher for patients who developed refeeding syndrome (23.2 ± 5 Kcal/kg/j; n = 7) versus patients without refeeding syndrome (14.1 ± 3 Kcal/kg/j; n = 61) P = 0.02. Seven patients died, two from acute respiratory distress syndrome and five from multiorgan-failure associated with major hydroelectrolytic problems. The frequency of AN in ICU patients is very low and the crude mortality in this group is about 10%. Prevention and early-detection of refeeding syndrome is the key point.

Linezolid-induced serotonin syndrome

PubMed Central

Gupta, Vishal; Karnik, Niteen D; Deshpande, Rushikesh; Patil, Meenakshi Amit

2013-01-01

A young drug abuser was admitted to our intensive care unit for organophosphorus poisoning. He required mechanical ventilation and was started empirically on linezolid for suspected nosocomial infection. The patient developed high-grade fever with altered sensorium and clonus. Serotonin syndrome was suspected and the patient was started on cyproheptadine. He recovered within 3 days of withdrawing linezolide and administering cyproheptadine. PMID:23513014

Hyperbaric oxygen therapy as treatment for bilateral arm compartment syndrome after CrossFit: case report and literature review.

PubMed

Mendes, Adriano Fernando; Neto, José da Mota; Heringer, Erica Maciel; de Simoni, Leandro Furtado; Pires, Diego Demolinari; Labronici, Pedro José

2018-01-01

CrossFit is a physical fitness program characterized by high-intensity workouts that can be associated with serious injury. Acute compartment syndrome in the upper limbs is a rare occurrence. It may occur after intense physical exercise, and its usual treatment is surgical. Hyperbaric oxygen therapy is a treatment described as adjunctive in cases of compartmental syndrome. We describe the case of a CrossFit practitioner who, after intense training, developed progressive symptoms of rhabdomyolysis and acute bilateral arm compartment syndrome, who was successfully treated with hyperbaric oxygen therapy and required no fasciotomy as surgical treatment. Acute compartment syndrome in the arms after intense physical exercise is a rare occurrence that should be suspected by practitioners of physical activity experiencing intense, disproportionate and progressive pain. In the case presented, hyperbaric oxygen therapy was successfully used in the treatment of the disorder, with satisfactory progress, and without the need for a surgical fasciotomy as therapy. Copyright© Undersea and Hyperbaric Medical Society.

Increased Protein Requirements in Female Athletes after Variable-Intensity Exercise.

PubMed

Wooding, Denise J; Packer, Jeff E; Kato, Hiroyuki; West, Daniel W D; Courtney-Martin, Glenda; Pencharz, Paul B; Moore, Daniel R

2017-11-01

Protein requirements are primarily studied in the context of resistance or endurance exercise with little research devoted to variable-intensity intermittent exercise characteristic of many team sports. Further, female populations are underrepresented in dietary sports science studies. We aimed to determine a dietary protein requirement in active females performing variable-intensity intermittent exercise using the indicator amino acid oxidation (IAAO) method. We hypothesized that these requirements would be greater than current IAAO-derived estimates in nonactive adult males. Six females (21.2 ± 0.8 yr, 68.8 ± 4.1 kg, 47.1 ± 1.2 mL O2·kg·min; mean ± SE) completed five to seven metabolic trials during the luteal phase of the menstrual cycle. Participants performed a modified Loughborough Intermittent Shuttle Test before consuming eight hourly mixed meals providing the test protein intake (0.2-2.66 g·kg·d), 6 g·kg·d CHO and sufficient energy for resting and exercise-induced energy expenditure. Protein was provided as crystalline amino acid modeling egg protein with [C]phenylalanine as the indicator amino acid. Phenylalanine turnover (Q) was determined from urinary [C]phenylalanine enrichment. Breath CO2 excretion (FCO2) was analyzed using mixed effects biphase linear regression with the breakpoint and upper 95% confidence interval approximating the estimated average requirement and recommended dietary allowance, respectively. Protein intake had no effect on Q (68.7 ± 7.3 μmol·kg·h; mean ± SE). FCO2 displayed a robust biphase response (R = 0.66) with an estimated average requirement of 1.41 g·kg·d and recommended dietary allowance of 1.71 g·kg·d. The protein requirement estimate of 1.41 and 1.71 g·kg·d for females performing variable-intensity intermittent exercise is greater than the IAAO-derived estimates of adult males (0.93 and 1.2 g·kg·d) and at the upper range of the American College of Sports Medicine athlete recommendations (1.2-2.0 g·kg·d).

Red cell alloimmunization is associated with development of autoantibodies and increased red cell transfusion requirements in myelodysplastic syndrome

PubMed Central

Singhal, Deepak; Kutyna, Monika M.; Chhetri, Rakchha; Wee, Li Yan A.; Hague, Sophia; Nath, Lakshmi; Nath, Shriram V.; Sinha, Romi; Wickham, Nicholas; Lewis, Ian D.; Ross, David M.; Bardy, Peter G.; To, Luen Bik; Reynolds, John; Wood, Erica M.; Roxby, David J.; Hiwase, Devendra K.

2017-01-01

Up to 90% of patients with a myelodysplastic syndrome require red blood cell transfusion; nevertheless, comprehensive data on red cell alloimmunization in such patients are limited. This study evaluates the incidence and clinical impact of red cell alloimmunization in a large cohort of patients with myelodysplastic syndrome registered in the statewide South Australian-MDS registry. The median age of the 817 patients studied was 73 years, and 66% were male. The cumulative incidence of alloimmunization was 11%. Disease-modifying therapy was associated with a lower risk of alloimmunization while alloimmunization was significantly higher in patients with a revised International Prognostic Scoring System classification of Very Low, Low or Intermediate risk compared to those with a High or Very High risk (P=0.03). Alloantibodies were most commonly directed against antigens in the Rh (54%) and Kell (24%) systems. Multiple alloantibodies were present in 49% of alloimmunized patients. Although 73% of alloimmunized patients developed alloantibodies during the period in which they received their first 20 red cell units, the total number of units transfused was significantly higher in alloimmunized patients than in non-alloimmunized patients (90±100 versus 30±52; P<0.0001). In individual patients, red cell transfusion intensity increased significantly following alloimmunization (2.8±1.3 versus 4.1±2.0; P<0.0001). A significantly higher proportion of alloimmunized patients than non-alloimmunized patients had detectable autoantibodies (65% versus 18%; P<0.0001) and the majority of autoantibodies were detected within a short period of alloimmunization. In conclusion, this study characterizes alloimmunization in a large cohort of patients with myelodysplastic syndrome and demonstrates a signficant increase in red cell transfusion requirements following alloimmunization, most probably due to development of additional alloantibodies and autoantibodies, resulting in subclinical

[Equivalent continuous noise level in neonatal intensive care unit associated to burnout syndrome].

PubMed

Garrido Galindo, A P; Camargo Caicedo, Y; Vélez-Pereira, A M

2015-01-01

Noise levels in neonatal intensive care units allow the appearance of symptoms associated with burnout such as stress, irritability, fatigue and emotional instability on health care personnel. The aim of this study was to evaluate the equivalent continuous noise levels in the neonatal intensive care unit and compare the results with noise levels associated with the occurrence of burnout syndrome on the care team. Continuous sampling was conducted for 20 days using a type I sound level meter on the unit. The maximum, the ninetieth percentile and the equivalent continuous noise level (Leq) values were recorded. Noise level is reported in the range of 51.4-77.6 decibels A (dBA) with an average of 64 dBA, 100.6 dBA maximum, and average background noise from 57.9 dBA. Noise levels exceed the standards suggested for neonatal intensive care units, are close to maximum values referred for noise exposure in the occupational standards and to noise levels associated with the onset of burnout; thus allowing to infer the probability of occurrence of high levels of noise present in the unit on the development of burnout in caregivers. Copyright © 2013 Elsevier España, S.L.U. y SEEIUC. All rights reserved.

Measuring Outcomes of an Intensive Care Unit Family Diary Program.

PubMed

Huynh, Truong-Giang; Covalesky, Miranda; Sinclair, Samantha; Gunter, Heather; Norton, Tamara; Chen, Alice; Yi, Cassia

2017-01-01

Patients discharged from intensive care units are at risk of short- and long-term physical, cognitive, and emotional symptoms known as post-intensive care syndrome. Family members of intensive care unit patients are at risk of similar symptoms known as post-intensive care syndrome-family. Both syndromes are common, and strategies to reduce risk factors should be employed. An intensive care unit diary project to help reduce these syndromes was implemented in 2 intensive care units using an evidence-based framework. The effects of these diaries were studied using the Family Satisfaction with Care in the Intensive Care Unit survey. Rates of referrals to a postintensive care unit recovery clinic were also observed in relation to the diaries. Although preliminary data did not reveal a significant increase in family satisfaction, the surveys provided important staff feedback. The diaries fostered feelings of compassion and caring as well as built trust between staff and family members of intensive care unit patients. The diaries increased referrals to the postintensive care unit recovery clinic. ©2017 American Association of Critical-Care Nurses.

Novel toxic shock syndrome toxin-1 amino acids required for biological activity.

PubMed

Brosnahan, Amanda J; Schaefers, Matthew M; Amundson, William H; Mantz, Mary J; Squier, Christopher A; Peterson, Marnie L; Schlievert, Patrick M

2008-12-09

Superantigens interact with T lymphocytes and macrophages to cause T lymphocyte proliferation and overwhelming cytokine production, which lead to toxic shock syndrome. Staphylococcus aureus superantigen toxic shock syndrome toxin-1 is a major cause of menstrual toxic shock syndrome. In general, superantigen-secreting S. aureus remains localized at the vaginal surface, and the superantigen must therefore penetrate the vaginal mucosa to interact with underlying immune cells to cause toxic shock syndrome. A dodecapeptide region (toxic shock syndrome toxin-1 amino acids F119-D130), relatively conserved among superantigens, has been implicated in superantigen penetration of the epithelium. The purpose of this study was to determine amino acids within this dodecapeptide region that are required for interaction with vaginal epithelium. Alanine mutations were constructed in S. aureus toxic shock syndrome toxin-1 amino acids D120 to D130. All mutants maintained superantigenicity, and selected mutants were lethal when given intravenously to rabbits. Toxic shock syndrome toxin-1 induces interleukin-8 from immortalized human vaginal epithelial cells; however, three toxin mutants (S127A, T128A, and D130A) induced low levels of interleukin-8 compared to wild type toxin. When carboxy-terminal mutants (S127A to D130A) were administered vaginally to rabbits, D130A was nonlethal, while S127A and T128A demonstrated delayed lethality compared to wild type toxin. In a porcine ex vivo permeability model, mutant D130A penetrated the vaginal mucosa more quickly than wild type toxin. Toxic shock syndrome toxin-1 residue D130 may contribute to binding an epithelial receptor, which allows it to penetrate the vaginal mucosa, induce interleukin-8, and cause toxic shock syndrome.

Horner's syndrome in patients admitted to the intensive care unit that have undergone central venous catheterization: a prospective study.

PubMed

Butty, Z; Gopwani, J; Mehta, S; Margolin, E

2016-01-01

PurposeCentral venous catheterization (CVC) is estimated to be performed in millions of patients per year. Swan-Ganz catheters used for CVC are most often inserted into the internal jugular vein and during this procedure they may come into contact with the sympathetic chain. This study aims to determine the incidence of Horner's syndrome in patients admitted to intensive care unit that have undergone internal jugular CVC insertion during their admission and to determine whether ultrasonography-assisted insertion has decreased the frequency of this complication.Patients and methodsA total of 100 prospective patients admitted to the ICU were examined for the presence of anisocoria and ptosis after undergoing recent CVC. Presence of Horner's syndrome was confirmed by testing with 0.5% apraclonidine and looking for the reversal of anisocoria.ResultsFrequency of Horner's syndrome after CVC was 2% in a sample of 100 prospectively examined patients.ConclusionHorner's syndrome remains a relatively rare but definitive complication of CVC. ICU physicians should be educated about its existence and prevalence and ophthalmologists should inquire about any history of ICU admission necessitating CVC insertion in any patient presenting with Horner's syndrome.

Chronic exertional compartment syndrome with medial tibial stress syndrome in twins.

PubMed

Banerjee, Purnajyoti; McLean, Christopher

2011-06-14

Chronic exertional compartment syndrome and medial tibial stress syndrome are uncommon conditions that affect long-distance runners or players involved in team sports that require extensive running. We report 2 cases of bilateral chronic exertional compartment syndrome, with medial tibial stress syndrome in identical twins diagnosed with the use of a Kodiag monitor (B. Braun Medical, Sheffield, United Kingdom) fulfilling the modified diagnostic criteria for chronic exertional compartment syndrome as described by Pedowitz et al, which includes: (1) pre-exercise compartment pressure level >15 mm Hg; (2) 1 minute post-exercise pressure >30 mm Hg; and (3) 5 minutes post-exercise pressure >20 mm Hg in the presence of clinical features. Both patients were treated with bilateral anterior fasciotomies through minimal incision and deep posterior fasciotomies with tibial periosteal stripping performed through longer anteromedial incisions under direct vision followed by intensive physiotherapy resulting in complete symptomatic recovery. The etiology of chronic exertional compartment syndrome is not fully understood, but it is postulated abnormal increases in intramuscular pressure during exercise impair local perfusion, causing ischemic muscle pain. No familial predisposition has been reported to date. However, some authors have found that no significant difference exists in the relative perfusion, in patients, diagnosed with chronic exertional compartment syndrome. Magnetic resonance images of affected compartments have indicated that the pain is not due to ischemia, but rather from a disproportionate oxygen supply versus demand. We believe this is the first report of chronic exertional compartment syndrome with medial tibial stress syndrome in twins, raising the question of whether there is a genetic predisposition to the causation of these conditions. Copyright 2011, SLACK Incorporated.

Early Differentiation of Kawasaki Disease Shock Syndrome and Toxic Shock Syndrome in a Pediatric Intensive Care Unit.

PubMed

Lin, Ying-Jui; Cheng, Ming-Chou; Lo, Mao-Hung; Chien, Shao-Ju

2015-11-01

Kawasaki disease shock syndrome (KDSS) and toxic shock syndrome (TSS) can present as shock and fever with skin rash, but the management of these 2 groups of patients is different. This report proposes to help clinicians earlier distinguish these 2 diseases and expedite institution of appropriate therapy. We retrospectively reviewed the medical records of patients admitted to the pediatric intensive care unit with the diagnosis of KDSS or TSS from January 2000 through December 2010. Clinical, laboratory and echocardiographic data were collected for analysis of differences between them. Seventeen patients met the inclusion criteria of KDSS and 16 had a confirmed diagnosis of TSS. The mean age of the KDSS group was significantly younger than that of the TSS group (36.8 ± 41.1 vs. 113.3 ± 55.6 months, P < 0.001). Significantly lower hemoglobulin and age-adjusted hemoglobulin concentrations were noted in the KDSS group [Hb, age-adjusted Z score, -1.88 (range, -3.9 to 3.9) vs. 0.89 (range, -6.4 to 10.8), P = 0.006]. The median platelet count of the KDSS group was nearly twice that of the TSS group [312 × 10³ per μL (range, 116-518) vs. 184.5 × 10³ per μL (range: 31-629), P = 0.021]. Echocardiographic abnormalities, such as valvulitis (mitral or tricuspid regurgitation) and coronary artery lesions, were significantly more common in the KDSS group (P = 0.022). Echocardiography, anemia and thrombocytosis are useful early differentiating features between KDSS and TSS patients.

Intensive rehabilitative approach to eosinophilia myalgia syndrome associated with severe polyneuropathy.

PubMed

Draznin, E; Rosenberg, N L

1993-07-01

We report a case of the eosinophilia myalgia syndrome (EMS) with incapacitating myalgias, weakness secondary to a severe polyneuropathy, and contractures in all four extremities requiring aggressive rehabilitation treatment. A 55-year-old woman was admitted to a rehabilitation hospital 11 months after the onset of EMS. At that time, she had severe weakness secondary to peripheral neuropathy and painful contractures in all extremities and required high doses of narcotics for pain control. A continuous passive range of motion machine was used in order to maintain range of motion obtained during active exercise therapy. The patient showed functional improvement in basic mobility and ADL skills. She was withdrawn from narcotics and successfully learned pain management techniques. An aggressive rehabilitation approach in the treatment of EMS associated with peripheral neuropathy may improve functional outcome even when instituted late in the clinical course.

Acute Hypotension after High-Intensity Interval Exercise in Metabolic Syndrome Patients.

PubMed

Morales-Palomo, Felix; Ramirez-Jimenez, Miguel; Ortega, Juan Fernando; Pallarés, Jesús G; Mora-Rodriguez, Ricardo

2017-07-01

The purpose of this study was to compare the magnitude of post-exercise hypotension (PEH) after a bout of cycling exercise using high-intensity interval training (HIIT) in comparison to a bout of traditional moderate-intensity continuous exercise (CE). After supine rest 14 obese (31±1 kg·m -2 ) middle-age (57±2 y) metabolic syndrome patients (50% hypertensive) underwent a bout of HIIT or a bout of CE in a random order and then returned to supine recovery for another 45 min. Exercise trials were isocaloric and compared to a no-exercise trial (CONT) of supine rest for a total of 160 min. Before and after exercise we assessed blood pressure (BP), heart rate (HR), cardiac output (Q), systemic vascular resistance (SVR), intestinal temperature (T INT ), forearm skin blood flow (S K BF) and percent dehydration. HIIT produced a larger post-exercise reduction in systolic blood pressure than CE in the hypertensive group (-20±6 vs. -5±3 mmHg) and in the normotensive group (-8±3 vs. -3±2 mmHg) while HIIT reduced SVR below CE (P<0.05). Percent dehydration was larger after HIIT, and post-exercise T INT and S K BF increased only after HIIT (all P<0.05). Our findings suggest that HIIT is a superior exercise method to CE to acutely reduce blood pressure in MSyn subjects. © Georg Thieme Verlag KG Stuttgart · New York.

Optimal management of subfertility in polycystic ovary syndrome

PubMed Central

Berger, Joshua J; Bates, G Wright

2014-01-01

The purpose of this paper is to provide a stepwise approach to treating the infertility/subfertility associated with polycystic ovary syndrome. Defining polycystic ovary syndrome in a patient requires first investigating other possible causes for polycystic ovary morphology, acne, hirsutism, obesity, and the metabolic derangements that often accompany polycystic ovary syndrome. Beginning with lifestyle modification and use of metformin, the progressive inclusion of more intensive therapies for induction of ovulation is described. Second-line treatments are discussed and the new findings from a large multicenter trial are discussed in the context of evidence-based treatment strategies for first-line agents. Finally, monofollicular development as a treatment goal and in vitro fertilization are discussed for those with recalcitrant disease. PMID:24966697

Survey of Oxygen Delivery Practices in UK Paediatric Intensive Care Units

PubMed Central

Peters, Mark J.

2016-01-01

Purpose. Administration of supplemental oxygen is common in paediatric intensive care. We explored the current practice of oxygen administration using a case vignette in paediatric intensive care units (PICU) in the united kingdom. Methods. We conducted an online survey of Paediatric Intensive Care Society members in the UK. The survey outlined a clinical scenario followed by questions on oxygenation targets for 5 common diagnoses seen in critically ill children. Results. Fifty-three paediatric intensive care unit members from 10 institutions completed the survey. In a child with moderate ventilatory requirements, 21 respondents (42%) did not follow arterial partial pressure of oxygen (PaO2) targets. In acute respiratory distress syndrome, cardiac arrest, and sepsis, there was a trend to aim for lower PaO2 as the fraction of inspired oxygen (FiO2) increased. Conversely, in traumatic brain injury and pulmonary hypertension, respondents aimed for normal PaO2 even as the FiO2 increased. Conclusions. In this sample of clinicians PaO2 targets were not commonly used. Clinicians target lower PaO2 as FiO2 increases in acute respiratory distress syndrome, cardiac arrest, and sepsis whilst targeting normal range irrespective of FiO2 in traumatic brain injury and pulmonary hypertension. PMID:27516901

Prone position in patients with acute respiratory distress syndrome

PubMed Central

Setten, Mariano; Plotnikow, Gustavo Adrián; Accoce, Matías

2016-01-01

Acute respiratory distress syndrome occupies a great deal of attention in intensive care units. Despite ample knowledge of the physiopathology of this syndrome, the focus in intensive care units consists mostly of life-supporting treatment and avoidance of the side effects of invasive treatments. Although great advances in mechanical ventilation have occurred in the past 20 years, with a significant impact on mortality, the incidence continues to be high. Patients with acute respiratory distress syndrome, especially the most severe cases, often present with refractory hypoxemia due to shunt, which can require additional treatments beyond mechanical ventilation, among which is mechanical ventilation in the prone position. This method, first recommended to improve oxygenation in 1974, can be easily implemented in any intensive care unit with trained personnel. Prone position has extremely robust bibliographic support. Various randomized clinical studies have demonstrated the effect of prone decubitus on the oxygenation of patients with acute respiratory distress syndrome measured in terms of the PaO2/FiO2 ratio, including its effects on increasing patient survival. The members of the Respiratory Therapists Committee of the Sociedad Argentina de Terapia Intensiva performed a narrative review with the objective of discovering the available evidence related to the implementation of prone position, changes produced in the respiratory system due to the application of this maneuver, and its impact on mortality. Finally, guidelines are suggested for decision-making. PMID:27925054

Chronic fatigue syndrome: aetiology, diagnosis and treatment

PubMed Central

Avellaneda Fernández, Alfredo; Pérez Martín, Álvaro; Izquierdo Martínez, Maravillas; Arruti Bustillo, Mar; Barbado Hernández, Francisco Javier; de la Cruz Labrado, Javier; Díaz-Delgado Peñas, Rafael; Gutiérrez Rivas, Eduardo; Palacín Delgado, Cecilia; Rivera Redondo, Javier; Ramón Giménez, José Ramón

2009-01-01

Chronic fatigue syndrome is characterised by intense fatigue, with duration of over six months and associated to other related symptoms. The latter include asthenia and easily induced tiredness that is not recovered after a night's sleep. The fatigue becomes so severe that it forces a 50% reduction in daily activities. Given its unknown aetiology, different hypotheses have been considered to explain the origin of the condition (from immunological disorders to the presence of post-traumatic oxidative stress), although there are no conclusive diagnostic tests. Diagnosis is established through the exclusion of other diseases causing fatigue. This syndrome is rare in childhood and adolescence, although the fatigue symptom per se is quite common in paediatric patients. Currently, no curative treatment exists for patients with chronic fatigue syndrome. The therapeutic approach to this syndrome requires a combination of different therapeutic modalities. The specific characteristics of the symptomatology of patients with chronic fatigue require a rapid adaptation of the educational, healthcare and social systems to prevent the problems derived from current systems. Such patients require multidisciplinary management due to the multiple and different issues affecting them. This document was realized by one of the Interdisciplinary Work Groups from the Institute for Rare Diseases, and its aim is to point out the main social and care needs for people affected with Chronic Fatigue Syndrome. For this, it includes not only the view of representatives for different scientific societies, but also the patient associations view, because they know the true history of their social and sanitary needs. In an interdisciplinary approach, this work also reviews the principal scientific, medical, socio-sanitary and psychological aspects of Chronic Fatigue Syndrome. PMID:19857242

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

Determining the anaerobic threshold in postpolio syndrome: comparison with current guidelines for training intensity prescription.

PubMed

Voorn, Eric L; Gerrits, Karin H; Koopman, Fieke S; Nollet, Frans; Beelen, Anita

2014-05-01

To determine whether the anaerobic threshold (AT) can be identified in individuals with postpolio syndrome (PPS) using submaximal incremental exercise testing, and to compare current guidelines for intensity prescription in PPS with the AT. Cohort study. Research laboratory. Individuals with PPS (N=82). Not applicable. Power output, gas exchange variables, heart rate, and rating of perceived exertion (RPE) were measured in an incremental submaximal cycle ergometry test. Two independent observers identified the AT. Comparison of current guidelines for training intensity prescription in PPS (40%-60% heart rate reserve [HRR] or RPE of 12) with the AT was based on correlations between recommended heart rate and the heart rate at the AT. In addition, we determined the proportion of individuals that would have been recommended to train at an intensity corresponding to their AT. The AT was identified in 63 (77%) of the participants. Pearson correlation coefficients between the recommended heart rate and the heart rate at the AT were lower in cases of 40% HRR (r=.56) and 60% HRR (r=.50) than in cases of prescription based on the RPE (r=.86). Based on the RPE, 55% of the individuals would have been recommended to train at an intensity corresponding to their AT. This proportion was higher compared with 40% HRR (41%) or 60% HRR (18%) as criterion. The AT can be identified in most individuals with PPS offering an individualized target for aerobic training. If the AT cannot be identified (eg, because gas analysis equipment is not available), intensity prescription can best be based on the RPE. Copyright © 2014 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

Recommendations on basic requirements for intensive care units: structural and organizational aspects.

PubMed

Valentin, Andreas; Ferdinande, Patrick

2011-10-01

To provide guidance and recommendations for the planning or renovation of intensive care units (ICUs) with respect to the specific characteristics relevant to organizational and structural aspects of intensive care medicine. The Working Group on Quality Improvement (WGQI) of the European Society of Intensive Care Medicine (ESICM) identified the basic requirements for ICUs by a comprehensive literature search and an iterative process with several rounds of consensus finding with the participation of 47 intensive care physicians from 23 countries. The starting point of this process was an ESICM recommendation published in 1997 with the need for an updated version. The document consists of operational guidelines and design recommendations for ICUs. In the first part it covers the definition and objectives of an ICU, functional criteria, activity criteria, and the management of equipment. The second part deals with recommendations with respect to the planning process, floorplan and connections, accommodation, fire safety, central services, and the necessary communication systems. This document provides a detailed framework for the planning or renovation of ICUs based on a multinational consensus within the ESICM.

Topiramate Responsive Exploding Head Syndrome

PubMed Central

Palikh, Gaurang M.; Vaughn, Bradley V.

2010-01-01

Exploding head syndrome is a rare phenomenon but can be a significant disruption to quality of life. We describe a 39-year-old female with symptoms of a loud bang and buzz at sleep onset for 3 years. EEG monitoring confirmed these events occurred in transition from stage 1 sleep. This patient reported improvement in intensity of events with topiramate medication. Based on these results, topiramate may be an alternative method to reduce the intensity of events in exploding head syndrome. Citation: Palikh GM; Vaughn BV. Topiramate responsive exploding head syndrome. J Clin Sleep Med 2010;6(4):382-383. PMID:20726288

Protein requirements and muscle mass/strength changes during intensive training in novice bodybuilders.

PubMed

Lemon, P W; Tarnopolsky, M A; MacDougall, J D; Atkinson, S A

1992-08-01

This randomized double-blind cross-over study assessed protein (PRO) requirements during the early stages of intensive bodybuilding training and determined whether supplemental PRO intake (PROIN) enhanced muscle mass/strength gains. Twelve men [22.4 +/- 2.4 (SD) yr] received an isoenergetic PRO (total PROIN 2.62 g.kg-1.day-1) or carbohydrate (CHO; total PROIN 1.35 g.kg-1.day-1) supplement for 1 mo each during intensive (1.5 h/day, 6 days/wk) weight training. On the basis of 3-day nitrogen balance (NBAL) measurements after 3.5 wk on each treatment (8.9 +/- 4.2 and -3.4 +/- 1.9 g N/day, respectively), the PROIN necessary for zero NBAL (requirement) was 1.4-1.5 g.kg-1.day-1. The recommended intake (requirement + 2 SD) was 1.6-1.7 g.kg-1.day-1. However, strength (voluntary and electrically evoked) and muscle mass [density, creatinine excretion, muscle area (computer axial tomography scan), and biceps N content] gains were not different between diet treatments. These data indicate that, during the early stages of intensive bodybuilding training, PRO needs are approximately 100% greater than current recommendations but that PROIN increases from 1.35 to 2.62 g.kg-1.day-1 do not enhance muscle mass/strength gains, at least during the 1st mo of training. Whether differential gains would occur with longer training remains to be determined.

Antiphospholipid syndrome: an evolving story.

PubMed

Robertson, Beverley; Greaves, Mike

2006-07-01

Antiphospholipid Syndrome (APS) is a form of immune mediated thrombophilia, presenting as recurrent thrombotic events and pregnancy morbidity, in association with positive laboratory tests for antiphospholipid antibodies (APA) in the form of Lupus Anticoagulant (LA) or anticardiolipin antibodies(ACA). Insights into the pathophysiology of the condition suggest that some antibodies are prothrombotic in vivo, and that the mechanism of thrombosis is likely to be multifactorial. APS has a broad spectrum of clinical presentations, and the laboratory diagnosis can be difficult due to heterogeneity of APAs and poor standardisation of laboratory tests. Anticoagulation is the mainstay of the management of the thrombotic and obstetric complications of APS. The risk of recurrent thrombosis appears to be high, and the duration and intensity of therapy remains controversial. Randomised controlled trials have shown that standard intensity anticoagulation is adequate in most cases of venous thrombosis. Further trials are required to establish whether high intensity coagulation is of benefit in recurrent or arterial thrombosis. The optimal management of recurrent fetal loss is debated and large studies are required to establish a clear benefit of heparin and aspirin over aspirin alone or supportive care.

Efficacy of pulsed low-intensity electric neuromuscular stimulation in reducing pain and disability in patients with myofascial syndrome.

PubMed

Iodice, P; Lessiani, G; Franzone, G; Pezzulo, G

2016-01-01

Myofascial pain syndrome (MPS) is characterized by chronic pain in multiple myofascial trigger points and fascial constrictions. In recent years, the scientific literature has recognized the need to include the patient with MPS in a multidimensional rehabilitation project. At the moment, the most widely recognized therapeutic methods for the treatment of myofascial syndrome include the stretch and spray pressure massage. Microcurrent electric neuromuscular stimulation was proposed in pain management for its effects on normalizing bioelectricity of cells and for its sub-sensory application. In this study, we tested the efficacy of low-intensity pulsed electric neuromuscular stimulus (PENS) on pain in patients with MPS of cervical spine muscles. We carried out a prospective-analytic longitudinal study at an outpatient clinic during two weeks. Forty subjects (mean age 42±13 years) were divided into two groups: treatment (TrGr, n=20) and control group (CtrlGr, n=20). Visual-analog scale (VAS) values, concerning the spontaneous and movement-related pain in the cervical-dorsal region at baseline (T0) and at the end of the study (T1), showed a reduction from 7 to 3.81 (p < 0.001) in TrGr. In the CtrlGr, VAS was reduced from 8.2 to 7.2 (n.s.). Moreover, the pressure pain threshold at T0 was 2.1 vs 4.2 at T1 (p < 0.001) in TrG. In the CtrlGR we observed no significant changes. Modulated low-intensity PENS is an innovative therapy permitting to act on the transmission of pain and on the restoration of tissue homeostasis. It seems to affect the transmission of pain through the stimulation of A-beta fibers. The above results show that low-intensity PENS can be considered as an effective treatment to reduce pain and disability in patients with MPS.

Myeloablative Versus Reduced-Intensity Hematopoietic Cell Transplantation for Acute Myeloid Leukemia and Myelodysplastic Syndromes

PubMed Central

Pasquini, Marcelo C.; Logan, Brent R.; Wu, Juan; Devine, Steven M.; Porter, David L.; Maziarz, Richard T.; Warlick, Erica D.; Fernandez, Hugo F.; Alyea, Edwin P.; Hamadani, Mehdi; Bashey, Asad; Giralt, Sergio; Geller, Nancy L.; Leifer, Eric; Le-Rademacher, Jennifer; Mendizabal, Adam M.; Horowitz, Mary M.; Deeg, H. Joachim; Horwitz, Mitchell E.

2017-01-01

Purpose The optimal regimen intensity before allogeneic hematopoietic cell transplantation (HCT) is unknown. We hypothesized that lower treatment-related mortality (TRM) with reduced-intensity conditioning (RIC) would result in improved overall survival (OS) compared with myeloablative conditioning (MAC). To test this hypothesis, we performed a phase III randomized trial comparing MAC with RIC in patients with acute myeloid leukemia or myelodysplastic syndromes. Patients and Methods Patients age 18 to 65 years with HCT comorbidity index ≤ 4 and < 5% marrow myeloblasts pre-HCT were randomly assigned to receive MAC (n = 135) or RIC (n = 137) followed by HCT from HLA-matched related or unrelated donors. The primary end point was OS 18 months post–random assignment based on an intent-to-treat analysis. Secondary end points included relapse-free survival (RFS) and TRM. Results Planned enrollment was 356 patients; accrual ceased at 272 because of high relapse incidence with RIC versus MAC (48.3%; 95% CI, 39.6% to 56.4% and 13.5%; 95% CI, 8.3% to 19.8%, respectively; P < .001). At 18 months, OS for patients in the RIC arm was 67.7% (95% CI, 59.1% to 74.9%) versus 77.5% (95% CI, 69.4% to 83.7%) for those in the MAC arm (difference, 9.8%; 95% CI, −0.8% to 20.3%; P = .07). TRM with RIC was 4.4% (95% CI, 1.8% to 8.9%) versus 15.8% (95% CI, 10.2% to 22.5%) with MAC (P = .002). RFS with RIC was 47.3% (95% CI, 38.7% to 55.4%) versus 67.8% (95% CI, 59.1% to 75%) with MAC (P < .01). Conclusion OS was higher with MAC, but this was not statistically significant. RIC resulted in lower TRM but higher relapse rates compared with MAC, with a statistically significant advantage in RFS with MAC. These data support the use of MAC as the standard of care for fit patients with acute myeloid leukemia or myelodysplastic syndromes. PMID:28380315

Does nonstationarity in rainfall require nonstationary intensity-duration-frequency curves?

NASA Astrophysics Data System (ADS)

Ganguli, Poulomi; Coulibaly, Paulin

2017-12-01

In Canada, risk of flooding due to heavy rainfall has risen in recent decades; the most notable recent examples include the July 2013 storm in the Greater Toronto region and the May 2017 flood of the Toronto Islands. We investigate nonstationarity and trends in the short-duration precipitation extremes in selected urbanized locations in Southern Ontario, Canada, and evaluate the potential of nonstationary intensity-duration-frequency (IDF) curves, which form an input to civil infrastructural design. Despite apparent signals of nonstationarity in precipitation extremes in all locations, the stationary vs. nonstationary models do not exhibit any significant differences in the design storm intensity, especially for short recurrence intervals (up to 10 years). The signatures of nonstationarity in rainfall extremes do not necessarily imply the use of nonstationary IDFs for design considerations. When comparing the proposed IDFs with current design standards, for return periods (10 years or less) typical for urban drainage design, current design standards require an update of up to 7 %, whereas for longer recurrence intervals (50-100 years), ideal for critical civil infrastructural design, updates ranging between ˜ 2 and 44 % are suggested. We further emphasize that the above findings need re-evaluation in the light of climate change projections since the intensity and frequency of extreme precipitation are expected to intensify due to global warming.

Intensive Exercise Training During Bed Rest Attenuates Deconditioning

NASA Technical Reports Server (NTRS)

Greenleaf, John E.

1997-01-01

Intensive exercise training during bed rest attenuates deconditioning. Med. Sci. Sports Exerc., Vol. 29, No. 2, pp. 207-215, 1997. A 30-d 6 deg head-down bed rest project was conducted to evaluate variable high-intensity, short-duration, isotonic cycle ergometer exercise (ITE) training and high-intensity intermittent resistive isokinetic exercise (IKE) training regimens designed to maintain peak VO2 and muscle mass, strength, and endurance at ambulatory control levels throughout prolonged bed rest. Other elements of the deconditioning (adaptive) syndrome, such as proprioception, psychological performance, hypovolemia, water balance, body composition, and orthostatic tolerance, were also measured. Major findings are summarized in this paper. Compared with response during bed rest of the no exercise (NOE) control group: the ITE training regimen (a) maintained work capacity (peak VO2), (b) maintained plasma and red cell volumes, (c) induced positive body water balance, (d) decreased quality of sleep and mental concentration, and (e) had no effect on the decrease in orthostatic tolerance; the IKE training regimen (f) attenuated the decrease in peak VO2 by 50%, (g) attenuated loss of red cell volume by 40% but had no effect on loss of plasma volume, (b) induced positive body water balance, (i) had no adverse effect on quality of sleep or concentration, and 0) had no effect on the decrease in orthostatic tolerance. These findings suggest that various elements of the deconditioning syndrome can be manipulated by duration and intensity of ITE or IKE training regimens and that several different training protocols will be required to maintain or restore physiological and psychological performance of individuals confined to prolonged bed rest.

Successful Reduced Intensity Allogeneic Transplant With Full Donor Chimerism and Good Quality of Life in Adolescent Patient With Wiskott-Aldrich Syndrome.

PubMed

Ali, Salah; Gacsadi, Anna; McDougall, Elizabeth; Armstrong, Christine; Krueger, Joerg; Schechter, Tal; Ali, Muhammad

2017-07-01

Wiskott-Aldrich syndrome (WAS) is an X-linked disease characterized by microthrombocytopenia, eczema, immune deficiency, and autoimmune phenomena. Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment. Myeloablative conditioning is the most common regimen used for HSCT in patients with WAS to avoid the risk of mixed donor chimerism and autoimmunity post-HSCT. There is limited data on the use of reduced intensity conditioning for HSCT in patients with WAS. Here, we report a case with severe phenotype of WAS transplanted successfully with reduced intensity conditioning, which is an acceptable conditioning regimen and can be considered in patients with WAS with significantly impaired organ functions.

Burning mouth syndrome: a review and update.

PubMed

Silvestre, Francisco J; Silvestre-Rangil, Javier; López-Jornet, Pía

2015-05-16

Burning mouth syndrome (BMS) is mainly found in middle aged or elderly women and is characterized by intense burning or itching sensation of the tongue or other regions of the oral mucosa. It can be accompanied by xerostomia and dysgeusia. The syndrome generally manifests spontaneously, and the discomfort is typically of a continuous nature but increases in intensity during the evening and at night. Although BMS classically has been attributed to a range of factors, in recent years evidence has been obtained relating it peripheral (sensory C and/or trigeminal nerve fibers) or central neuropathic disturbances (involving the nigrostriatal dopaminergic system). The differential diagnosis requires the exclusion of oral mucosal lesions or blood test alterations that can produce burning mouth sensation. Patient management is based on the avoidance of causes of oral irritation and the provision of psychological support. Drug treatment for burning sensation in primary BMS of peripheral origin can consist of topical clonazepam, while central type BMS appears to improve with the use of antidepressants such as duloxetine, antiseizure drugs such as gabapentin, or amisulpride.

Research Thinking of Low-intensity laser For the Treatment of Menopausal Syndrome

NASA Astrophysics Data System (ADS)

Chen, G. Z.; Xu, Y. X.; Wang, X. Y.; Liu, S. H.; Li, L. J.

2011-02-01

Female climacteric syndrome is a clinical syndrome due to autonomic nerve dysfunction occurring in women during climacteric period, which may affect their physical and mental health. Therefore, how to pass climacteric period for women without any problems, avoid or reduce the occurrence of climacteric syndrome, prevent geriatric diseases and improve life quality is a key issue now for great attention. Looking for a convenient, effective, and safer method without toxic-side effects to control the disease is a modern medical problem. By analyzing the relationship between laser technology and traditional acupuncture and moxibustion, the advantage and the existing problems on acupuncture and moxibustion for the treatment of menopausal syndrome, the application of laser methods for the mechanism research on TCM diagnosis and treatment of menopausal syndrome was discussed. It's pointed out that the laser acupuncture is safe and effective to treat menopausal syndrome. Breakthrough will be achieved from the research of the selection of the acupoint prescription and mechanism of Acupuncture and Moxibustion for the treatment of menopausal syndrome by utilizing the advantage of interdisciplinary intersection. Laser technology will make the development of acupuncture and moxibustion science possess an unprecedented field.

Complex Regional Pain Syndrome

MedlinePlus

Complex regional pain syndrome (CRPS) is a chronic pain condition. It causes intense pain, usually in the arms, hands, legs, or feet. ... in skin temperature, color, or texture Intense burning pain Extreme skin sensitivity Swelling and stiffness in affected ...

Transient Fanconi syndrome with severe polyuria and polydipsia in a 4-year old Shih Tzu fed chicken jerky treats.

PubMed

Major, A; Schweighauser, A; Hinden, S E; Francey, T

2014-12-01

Acquired Fanconi syndrome is characterized by inappropriate urinary loss of amino acids, bicarbonate, electrolytes, and water. It has recently been described in dogs fed chicken jerky treats from China, a new differential diagnosis to the classical inciting infectious diseases (e.g. leptospirosis, pyelonephritis) and toxins. A dog fed exclusively chicken jerky treats purchased in Switzerland was presented to our clinic with severe polyuria, polydipsia and profound electrolyte and acid base disturbances. Other inciting causes of Fanconi syndrome were ruled out. The requirement of a very intensive supportive treatment in this dog stands in contrast to treatment of chronic forms of Fanconi syndrome as described in the Basenji. This intensive therapy and the associated monitoring can be a real challenge and a limiting factor for the prognosis of acquired Fanconi syndrome. Veterinarians should be aware of the risk of excessive feeding of chicken jerky treats.

Carbamezapine for pain management in Guillain-Barré syndrome patients in the intensive care unit.

PubMed

Tripathi, M; Kaushik, S

2000-03-01

To evaluate carbamezapine (CBZ) for neuritic pain relief in Guillain-Barré syndrome (GBS) patients in the intensive care unit (ICU). Prospective, double-blind, randomly allocated cross-over study days. ICU in a tertiary care university hospital. Twelve consecutive, conscious adult (22-54 yrs) patients with GBS during recovery from the muscular weakness and receiving pressure-support ventilation in the ICU. All patients complained of severe backache and/or leg cramps and tenderness in muscles, and they required opioids for pain relief. CBZ (100 mg every 8 hrs) or equivalent placebo was given to nursing staff in coded powder form. Medication was given to patients through a nasogastric feeding tube. The same coded medicine was given for 3 days, and after a 1-day omission, a second set of coded powder was given for the next 3 days in a randomized, double-blind, crossover fashion. Pethidine (1 mg x kg(-1)) was given intravenously in between, if the pain score was >2. Group 1 (n = 6) patients were given a placebo on the first 3 days, followed by CBZ. Group 2 (n = 6) patients were given CBZ on the first 3 days, followed by a placebo. In these two study periods of different medications, we observed and scored pain (1, no pain; 5, severe pain), sedation (1, alert; 6, asleep, does not respond to verbal command), and total pethidine requirement per day. In group 1 patients, a significant (p < .001) improvement in the sedation score and a low requirement for pethidine was observed 3 days later, when CBZ was started. However, in group 2 patients, a gradual increase in the pethidine requirement and a high sedation score were noteworthy in the later days of placebo medication. Observations were also analyzed for CBZ days vs. placebo days. Overall, the pain score (1.7 +/- 0.8) during the CBZ period of both regimens was significantly (p < .001) lower than during the placebo days (3.1 +/- 0.9). Significantly higher doses of pethidine (3.7 +/- 0.9 mg/kg/day) were used on the placebo

Inpatient alcohol withdrawal syndrome.

PubMed

Monte-Secades, R; Rabuñal-Rey, R; Guerrero-Sande, H

2015-03-01

A 55-year-old man was admitted for a femur fracture; an alcohol fetor was noted on admission. The following day, the patient began to experience tremors and nervousness. Intravenous haloperidol was administered. Shortly afterwards, the patient experienced two generalized seizures and then began to experience delirium and uncontrollable agitation. The patient was diagnosed with alcohol withdrawal syndrome; high doses of intravenous midazolam were prescribed and infused. A few hours later, the patient presented signs of respiratory depression, requiring a transfer to the intensive care unit. After a review of the medical history, it was determined that the patient had been admitted on 3 previous occasions due to alcohol withdrawal and had progressed to delirium tremens after experiencing seizures. Can the risk of alcohol withdrawal syndrome and the need for prophylactic treatment be assessed on admission? Were appropriate monitoring and treatment measures employed? Would it have been possible to change his outcome? Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

Topiramate responsive exploding head syndrome.

PubMed

Palikh, Gaurang M; Vaughn, Bradley V

2010-08-15

Exploding head syndrome is a rare phenomenon but can be a significant disruption to quality of life. We describe a 39-year-old female with symptoms of a loud bang and buzz at sleep onset for 3 years. EEG monitoring confirmed these events occurred in transition from stage 1 sleep. This patient reported improvement in intensity of events with topiramate medication. Based on these results, topiramate may be an alternative method to reduce the intensity of events in exploding head syndrome.

Management and outcomes of neonates with down syndrome admitted to neonatal units.

PubMed

Mann, Jake P; Statnikov, Eugene; Modi, Neena; Johnson, Nik; Springett, Anna; Morris, Joan K

2016-06-01

Neonates with Down syndrome have an increased risk of being admitted to a neonatal unit compared with unaffected neonates. We aimed to estimate the proportion of neonates with Down syndrome admitted to a neonatal unit and compare their management and outcomes with other neonatal admissions. Case-control study of neonates born from 2009 to 2011 admitted to 122 NHS Neonatal Units in England using data from the National Down Syndrome Cytogenetic Register and the National Neonatal Research Database. For each neonate with Down syndrome, three neonates admitted to the same unit in the same month and born at the same gestation were identified. Forty-six percent of neonates with Down syndrome were admitted to a neonatal unit. Boys were more likely to be admitted than girls (odds ratio = 1.7; 95% confidence interval, 1.4-2.0). Neonates with Down syndrome required more intensive or high dependency care compared with unaffected neonates (37% vs. 27%. p < 0.01) and stayed in neonatal units for longer (11 days vs. 5 days, p < 0.01). A total of 31% of neonates with Down syndrome required respiratory support compared with 22% (p < 0.001) of unaffected neonates, and 11% were discharged requiring oxygen supplementation compared with 3% (p < 0.001) of unaffected neonates. A total of 3% of neonates with Down syndrome died in a neonatal unit compared with 1% (p = 0.01) of unaffected neonates. Neonates with Down syndrome are more likely than unaffected neonates to be admitted to a neonatal unit, have a prolonged stay, and be discharged home on supplemental oxygen. Birth Defects Research (Part A) 106:468-474, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

[The scombroid syndrome, a potentially serious ichthyotoxicosis of uncertain pathogenesis: personal experience].

PubMed

Di Grande, A; Giuffrida, C; Gatta, C; Condorelli, B

1999-01-01

The aim of this report is to point out the potential seriousness of the scombroid syndrome which, on the basis of our experience, can be characterized by extremely serious symptoms. We describe 12 cases of scombroid syndrome: two-thirds of the patients presented with rapid worsening of their clinical condition and hypotension severe enough to require use of plasma-expanders and hospitalization in an Internal Medicine Department. In the youngest patient, hypotension and symptoms were so marked that intravenous administration of epinephrine, and hospitalization in the Intensive Care Unit were required. Thus, in contrast to reports in the literature, the scombroid syndrome should be considered as a potentially serious ichthyotoxicosis. The pathogenetic role played by histamine, poorly absorbed by the intestine and rapidly metabolized by the liver, should be reevaluated. The potential onset of serious clinical symptoms warrants prolonged observation of the patient in an environment equipped to deal with the not infrequent emergencies that can arise, even in young and healthy subjects.

Leisure-time exercise, physical activity during work and commuting, and risk of metabolic syndrome.

PubMed

Kuwahara, Keisuke; Honda, Toru; Nakagawa, Tohru; Yamamoto, Shuichiro; Akter, Shamima; Hayashi, Takeshi; Mizoue, Tetsuya

2016-09-01

Data are limited regarding effect of intensity of leisure-time physical activity on metabolic syndrome. Furthermore, no prospective data are available regarding effect of occupational and commuting physical activity on metabolic syndrome. We compared metabolic syndrome risk by intensity level of leisure-time exercise and by occupational and commuting physical activity in Japanese workers. We followed 22,383 participants, aged 30-64 years, without metabolic syndrome until 2014 March (maximum, 5 years of follow-up). Physical activity was self-reported. Metabolic syndrome was defined by the Joint Statement criteria. We used Cox regression models to estimate the hazard ratios (HRs) and 95 % confidence intervals (CIs) of metabolic syndrome. During a mean follow-up of 4.1 years, 5361 workers developed metabolic syndrome. After adjustment for covariates, compared with engaging in no exercise, the HRs (95 % CIs) for <7.5, 7.5 to <16.5, and ≥16.5 metabolic equivalent hours of exercise per week were 0.99 (0.90, 1.08), 0.99 (0.90, 1.10), and 0.95 (0.83, 1.08), respectively, among individuals engaging in moderate-intensity exercise alone; 0.93 (0.75, 1.14), 0.81 (0.64, 1.02), and 0.84 (0.66, 1.06), among individuals engaging in vigorous-intensity exercise alone; and 0.90 (0.70, 1.17), 0.74 (0.62, 0.89), and 0.81 (0.69, 0.96) among individuals engaging in the two intensities. Higher occupational physical activity was weakly but significantly associated with lower risk of metabolic syndrome. Walking to and from work was not associated with metabolic syndrome. Vigorous-intensity exercise alone or vigorous-intensity combined with moderate-intensity exercise and worksite intervention for physical activity may help prevent metabolic syndrome for Japanese workers.

Ehlers-Danlos syndrome type IV

PubMed Central

Germain, Dominique P

2007-01-01

Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000, EDS type IV representing approximately 5 to 10% of cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. Dissections of the vertebral arteries and the carotids in their extra- and intra-cranial segments (carotid-cavernous fistulae) are typical. There is a high risk of recurrent colonic perforations. Pregnancy increases the likelihood of a uterine or vascular rupture. EDS type IV is inherited as an autosomal dominant trait that is caused by mutations in the COL3A1 gene coding for type III procollagen. Diagnosis is based on clinical signs, non-invasive imaging, and the identification of a mutation of the COL3A1 gene. In childhood, coagulation disorders and Silverman's syndrome are the main differential diagnoses; in adulthood, the differential diagnosis includes other Ehlers-Danlos syndromes, Marfan syndrome and Loeys-Dietz syndrome. Prenatal diagnosis can be considered in families where the mutation is known. Choriocentesis or amniocentesis, however, may entail risk for the pregnant woman. In the absence of specific treatment for EDS type IV, medical intervention should be focused on symptomatic treatment and prophylactic measures. Arterial, digestive or uterine complications require immediate hospitalisation, observation in an intensive care unit. Invasive imaging techniques are contraindicated. Conservative approach is usually recommended when caring for a vascular complication in a patient suffering

Changes of geriatric syndromes in older adults survived from Intensive Care Unit.

PubMed

Tang, Hsin-Ju; Tang, Hsin-Yi Jean; Hu, Fang-Wen; Chen, Ching-Huey

Nearly 90% of the older adult patients discharged from hospital with a cluster of geriatric syndromes. The patterns of geriatric syndromes in older adult ICU survivors are to be further explored. The aim of this study was to examine the risk factors and patterns of geriatric syndromes among older adult patients before admitting to ICU and throughout their hospitalization. A total of 137 older adult patients (age 76.9 ± 6.6; 52.6% male) participated in the study. The results showed significant increase in the occurrence of geriatric syndromes from T0 (upon ICU admission) to T1 (transition to inpatient care unit), with improvement at T2 (hospital discharge), but did not return to the baseline. The three most prevalent geriatric syndromes were: functional decline, urination incontinence, and defecation incontinence. Polypharmacy was associated with functioning decline. Patients with delirium were six times more likely to be re-admitted to ICU. Copyright © 2016 Elsevier Inc. All rights reserved.

Formant Amplitude of Children with Down's Syndrome.

ERIC Educational Resources Information Center

Pentz, Arthur L., Jr.

1987-01-01

The sustained vowel sounds of 14 noninstitutionalized 7- to 10-year-old children with Down's syndrome were analyzed acoustically for vowel formant amplitude levels. The subjects with Down's syndrome had formant amplitude intensity levels significantly lower than those of a similar group of speakers without Down's syndrome. (Author/DB)

Surgery for subacromial impingement syndrome in relation to intensities of occupational mechanical exposures across 10-year exposure time windows.

PubMed

Dalbøge, Annett; Frost, Poul; Andersen, Johan Hviid; Svendsen, Susanne Wulff

2018-03-01

We aimed to identify intensities of occupational mechanical exposures (force, arm elevation and repetition) that do not entail an increased risk of surgery for subacromial impingement syndrome (SIS) even after prolonged durations of exposure. Additionally, we wanted to evaluate if exposure to hand-arm vibration (HAV) is an independent risk factor. We used data from a register-based cohort study of the entire Danish working population (n=2 374 403). During follow-up (2003-2008), 14 118 first-time events of surgery for SIS occurred. For each person, we linked register-based occupational codes (1993-2007) to a general population job exposure matrix to obtain year-by-year exposure intensities on measurement scales for force, upper arm elevation >90° and repetition and expert rated intensities of exposure to HAV. For 10-year exposure time windows, we calculated the duration of exposure at specific intensities above minimal (low, medium and high). We used a logistic regression technique equivalent to discrete survival analysis adjusting for cumulative effects of other mechanical exposures. We found indications of safe exposure intensities for repetition (median angular velocity <45°/s), while force exertion ≥10% of maximal voluntary electrical activity and upper arm elevation >90° >2 min/day implied an increased risk reaching ORs of 1.7 and 1.5 after 10 years at low intensities. No associations were found for HAV. We found indications of safe exposure intensities for repetition. Any intensities of force and upper arm elevation >90° above minimal implied an increased risk across 10-year exposure time windows. No independent associations were found for HAV. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

The relation between intensity and complexity of coronary artery lesion and oxidative stress in patients with acute coronary syndrome.

PubMed

Turan, Turhan; Menteşe, Ümit; Ağaç, Mustafa Tarık; Akyüz, Ali Rıza; Kul, Selim; Aykan, Ahmet Çağrı; Bektaş, Hüseyin; Korkmaz, Levent; Öztaş Menteşe, Seda; Dursun, İhsan; Çelik, Şükrü

2015-10-01

Oxidative stress plays a major role in the development of atherosclerosis. However, the relationship between oxidative stress and complexity and intensity of coronary artery disease is less clear. The aim of this study is to assess the relationship between oxidative stress markers and the complexity and intensity of coronary artery disease in patients with acute coronary syndrome (ACS). Sixty-seven consecutive patients with an early phase of ACS (<3 h) were included in this single-centre, cross-sectional, prospective study. Syntax and Gensini scores were calculated based on angiographic findings. Patients were divided into two CAD complexity groups according to their Syntax scores: low SYNTAX score (<22) and moderate to high SYNTAX score (>=22). Likewise patients were divided into two CAD severity groups according to the median Gensini score of 64: less intensive CAD with Gensini score (<64) and intensive CAD with Gensini score >=64. Blood samples were taken in 1 hour within administration in order to measure total oxidative status (TOS) and total antioxidant capacity (TAC) levels determined by Erel method. Oxidative stress index (OSI) was calculated by TOS /TAC. There was no significant difference between the two SYNTAX groups for oxidative stress markers. Median TOS and OSI values were significantly high in the intensive CAD group (p=0.005, p=0.04, respectively). The Gensini score was positively correlated with TOS and OSI (p=0.003, p=0.02, respectively). Oxidative stress markers may be considered supportive laboratory parameters related to CAD intensity but not complexity in ACS patients.

Incidence and preventability of adverse events requiring intensive care admission: a systematic review.

PubMed

Vlayen, Annemie; Verelst, Sandra; Bekkering, Geertruida E; Schrooten, Ward; Hellings, Johan; Claes, Neree

2012-04-01

Adverse events are unintended patient injuries or complications that arise from health care management resulting in death, disability or prolonged hospital stay. Adverse events that require critical care are a considerable financial burden to the health care system, but also their global impact on patients and society is probably underestimated. The objectives of this systematic review were to synthesize the best available evidence regarding the estimates of the incidence and preventability of adverse events that necessitate intensive care admission, to determine the type and consequences [mortality, length of intensive care unit (ICU) stay and costs] of these adverse events. MEDLINE (from 1966 to present), EMBASE (from 1974 to present) and CENTRAL (version 1-2010) were searched for studies reporting on unplanned admissions on ICUs. Several other sources were searched for additional studies. Only quantitative studies that used chart review for the detection of adverse events requiring intensive care admission were considered for eligibility. For the purposes of this systematic review, ICUs were defined as specialized hospital facilities which provide continuous monitoring and intensive care for acutely ill patients. Studies that were published in the English, Dutch, German, French or Spanish language were eligible for inclusion. Two reviewers independently extracted data and assessed the methodological quality of the included studies. A total of 27 studies were reviewed. Meta-analysis of the data was not appropriate because of methodological and statistical heterogeneity between studies; therefore, results are presented in a descriptive way. The percentage of surgical and medical adverse events that required ICU admission ranged from 1.1% to 37.2%. ICU readmissions varied from 0% to 18.3%. Preventability of the adverse events varied from 17% to 76.5%. Preventable adverse events are further synthesized by type of event. Consequences of the adverse events included a

Anesthetic Management of Mitochondrial Encephalopathy With Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome) in a High-Risk Pregnancy: A Case Report.

PubMed

Bell, Josh D; Higgie, Kushlin; Joshi, Mital; Rucker, Joshua; Farzi, Sahar; Siddiqui, Naveed

2017-07-15

MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, and stroke-like symptoms) is a rare and complex mitochondrial disorder. We present the in-hospital course of a 36-year-old gravida 2, para 0 with MELAS syndrome and severe preeclampsia, complicated by hyponatremia, hyperkalemia, and diabetes. A retained placenta with postpartum hemorrhage required urgent instrumental delivery under spinal anesthesia, transfusion, and intensive care unit admission for pulmonary edema, effusions, and atelectasis. Postpartum endometritis and sepsis also were encountered. This is to our knowledge the first case report of obstetric complications in MELAS syndrome and highlights the salient metabolic sequelae of this syndrome.

Guillain-Barré Syndrome.

PubMed

Wijdicks, Eelco F M; Klein, Christopher J

2017-03-01

Guillain-Barré syndrome is an acute inflammatory immune-mediated polyradiculoneuropathy presenting typically with tingling, progressive weakness, and pain. Variants and formes frustes may complicate recognition. The best known variant is the sensory ataxic form of Miller Fisher syndrome, which also affects the oculomotor nerves and the brain stem. Divergent pathologic mechanisms lead to demyelinating, axonal, or mixed demyelinating-axonal damage. In the demyelinating form, yet to be identified antigens are inferred by complement activation, myelin destruction, and macrophage-activated cleanup. In the axonal and Miller Fisher variants, gangliosides (GM1, GD1a, GQ1b) are targeted by immunoglobulins and share antigenic epitopes with some bacterial and viral antigens. Campylobacter jejuni infection is associated with an axonal-onset variant; affected patients commonly experience more rapid deterioration. Many other antecedent infectious agents have been recognized including the most recently identified, Zika virus. Supportive care remains the mainstay of therapy. Plasma exchange or intravenous immunoglobin hastens recovery. Combination immunotherapy is not more effective, and the efficacy of prolonged immunotherapy is unproven. One in 3 patients will have deterioration severe enough to require prolonged intensive care monitoring or mechanical ventilation. Full recovery is often seen; most patients regain ambulation, even in severe cases, but disability remains in up to 10% and perhaps more. Numerous challenges remain including early identification and control of infectious triggers, improved access of modern neurointensive care worldwide, and translating our understanding of pathogenesis into meaningful preventive or assistive therapies. This review provides a historical perspective at the centenary of the first description of the syndrome, insights into its pathogenesis, triage, initial immunotherapy, and management in the intensive care unit. Copyright © 2016 Mayo

Factors among patients receiving prone positioning for the acute respiratory distress syndrome found useful for predicting mortality in the intensive care unit.

PubMed

Modrykamien, Ariel M; Daoud, Yahya

2018-01-01

Optimal mechanical ventilation management in patients with the acute respiratory distress syndrome (ARDS) involves the use of low tidal volumes and limited plateau pressure. Refractory hypoxemia may not respond to this strategy, requiring other interventions. The use of prone positioning in severe ARDS resulted in improvement in 28-day survival. To determine whether mechanical ventilation strategies or other parameters affected survival in patients undergoing prone positioning, a retrospective analysis was conducted of a consecutive series of patients with severe ARDS treated with prone positioning. Demographic and clinical information involving mechanical ventilation strategies, as well as other variables associated with prone positioning, was collected. The rate of in-hospital mortality was obtained, and previously described parameters were compared between survivors and nonsurvivors. Forty-three patients with severe ARDS were treated with prone positioning, and 27 (63%) died in the intensive care unit. Only three parameters were significant predictors of survival: APACHE II score ( P = 0.03), plateau pressure ( P = 0.02), and driving pressure ( P = 0.04). The ability of each of these parameters to predict mortality was assessed with receiver operating characteristic curves. The area under the curve values for APACHE II, plateau pressure, and driving pressure were 0.74, 0.69, and 0.67, respectively. In conclusion, in a group of patients with severe ARDS treated with prone positioning, only APACHE II, plateau pressure, and driving pressure were associated with mortality in the intensive care unit.

The role of burnout syndrome as a mediator for the effect of psychosocial risk factors on the intensity of musculoskeletal disorders: a structural equation modeling approach.

PubMed

Gholami, Tahereh; Pahlavian, Ahmad Heidari; Akbarzadeh, Mahdi; Motamedzade, Majid; Moghaddam, Rashid Heidari

2016-01-01

This study examined the hypothesis that burnout syndrome mediates effects of psychosocial risk factors and intensity of musculoskeletal disorders (MSDs) among hospital nurses. The sample was composed of 415 nurses from various wards across five hospitals of Iran's Hamedan University of Medical Sciences. Data were collected through three questionnaires: job content questionnaire, Maslach burnout inventory and visual analogue scale. Results of structural equation modeling with a mediating effect showed that psychosocial risk factors were significantly related to changes in burnout, which in turn affects intensity of MSDs.

Lesions requiring wound management in a central tertiary neonatal intensive care unit.

PubMed

Meszes, Angéla; Tálosi, Gyula; Máder, Krisztina; Orvos, Hajnalka; Kemény, Lajos; Csoma, Zsanett Renáta

2017-04-01

Most of the skin disorders that occur in neonatal intensive care units are due in part to the immaturity and vulnerability of the neonatal skin. Various iatrogenic diagnostic and therapeutic procedures are also conducive to iatrogenic damage. This study was to review the neonates admitted to our neonatal intensive care unit who needed wound management, and to assess the most common skin injuries and wounds, and their aetiology. Data were extracted from medical records of neonates who needed wound management in our Neonatal Intensive Care Unit between January 31, 2012 and January 31, 2013. Information about gestational age, sex, birth weight, area of involvement, wound aetiology, and therapy were collected. Among the 211 neonates observed, wound management was required in 10 cases of diaper dermatitis, 7 epidermal stripping, 6 extravasation injuries, 5 pressure ulcers, 1 surgical wound and infection, 1 thermal burn, and 5 other lesions. International guidelines in neonatal wound care practice are not available, and further research concerns are clearly needed. Dressings and antiseptic agents should be chosen with great care for application to neonates, with particular attention to the prevention of adverse events in this sensitive population. Team work among dermatologists, neonatologists and nurses is crucial for the successful treatment of neonates.

Effects and Mechanisms of Low-Intensity Pulsed Ultrasound for Chronic Prostatitis and Chronic Pelvic Pain Syndrome

PubMed Central

Lin, Guiting; Reed-Maldonado, Amanda B.; Lin, Maofan; Xin, Zhongcheng; Lue, Tom F.

2016-01-01

Chronic Prostatitis/Chronic Pelvic Pain Syndrome (CP/CPPS) is one of the most common urologic diseases, and no curative treatments have been identified. Low-intensity pulsed ultrasound (LIPUS) has been successfully used in promoting tissue healing, inhibiting inflammation and pain, differentiating stem cells, and stimulating nerve regeneration/muscle regeneration, as well as enhancing angiogenesis. Very recently, LIPUS has been proven an effective approach for CP/CPPS. This review summarizes the possible mechanisms responsible for the therapeutic effect of LIPUS for CP/CPPS. To search publications relevant to the topics of this review, the search engine for life sciences of Entrez was used. We reviewed the available evidence from 1954 through 2015 concerning LIPUS for CP/CPPS. According to the literature, both transrectal and transperineal approaches of LIPUS are effective for CP/CPPS. PMID:27376284

Effects and Mechanisms of Low-Intensity Pulsed Ultrasound for Chronic Prostatitis and Chronic Pelvic Pain Syndrome.

PubMed

Lin, Guiting; Reed-Maldonado, Amanda B; Lin, Maofan; Xin, Zhongcheng; Lue, Tom F

2016-07-01

Chronic Prostatitis/Chronic Pelvic Pain Syndrome (CP/CPPS) is one of the most common urologic diseases, and no curative treatments have been identified. Low-intensity pulsed ultrasound (LIPUS) has been successfully used in promoting tissue healing, inhibiting inflammation and pain, differentiating stem cells, and stimulating nerve regeneration/muscle regeneration, as well as enhancing angiogenesis. Very recently, LIPUS has been proven an effective approach for CP/CPPS. This review summarizes the possible mechanisms responsible for the therapeutic effect of LIPUS for CP/CPPS. To search publications relevant to the topics of this review, the search engine for life sciences of Entrez was used. We reviewed the available evidence from 1954 through 2015 concerning LIPUS for CP/CPPS. According to the literature, both transrectal and transperineal approaches of LIPUS are effective for CP/CPPS.

Outcome of severe adult thrombotic microangiopathies in the intensive care unit.

PubMed

Pene, Frédéric; Vigneau, Cécile; Auburtin, Marc; Moreau, Delphine; Zahar, Jean-Ralph; Coste, Joël; Heshmati, Farhad; Mira, Jean-Paul

2005-01-01

Thrombotic microangiopathies, namely thrombotic thrombocytopenic purpura and hemolytic uremic syndrome, are uncommon microvascular occlusive diseases. Despite the dramatic improvement in the outcome by exogenous plasma supply, either through plasma infusion or through plasma exchange, patients frequently require support in the intensive care unit. In the present study, we evaluated the outcome of a large cohort of patients with severe thrombotic microangiopathies. A retrospective multicenter study from January 1998 to June 2001. Fourteen French university hospital medical intensive care units. Sixty three adult patients with severe thrombotic microangiopathies. Of the 63 patients, 19 had a clinical presentation of thrombotic thrombocytopenic purpura, 18 had hemolytic uremic syndrome and 26 had combined neurologic and renal failures. Infections were the main etiology associated with thrombotic microangiopathies. The mortality rate was 35%. Of the survivors, all achieved complete remission. Whereas neurologic failure assessed through the Glasgow coma scale was an independent predictor of mortality [HR=0.845 (CI 95%: 0.759-0.940), P=0.002], renal impairment did not appear to be an adverse prognostic factor. The use of plasma exchange was independently associated with survival [HR=0.269 (CI 95%: 0.104-0.691), P=0.006]. Thrombotic microangiopathies with severe organ dysfunctions leading to hospitalization in the intensive care unit are associated with high mortality. Neurologic impairment appears to be the main adverse prognostic factor correlated to mortality, and the study confirms the importance of plasma exchange in the treatment of high-risk patients.

High-intensity therapeutic ultrasound: metrological requirements versus clinical usage

NASA Astrophysics Data System (ADS)

Aubry, J.-F.

2012-10-01

High-intensity therapeutic ultrasound (HITU) is an appealing non-invasive, non-ionizing therapeutic modality with a wide range of tissue interactions ranging from transient permeabilization of cell membranes to thermal ablation. The ability to guide and monitor the treatment with an associated ultrasonic or magnetic resonance imaging device has resulted in a dramatic rise in the clinical use of therapeutic ultrasound in the past two decades. Nevertheless, the range of clinical applications and the number of patients treated has grown at a much higher pace than the definition of standards. In this paper the metrological requirements of the therapeutic beams are reviewed and are compared with the current clinical use of image-guided HITU mostly based on a practical approach. Liver therapy, a particularly challenging clinical application, is discussed to highlight the differences between some complex clinical situations and the experimental conditions of the metrological characterization of ultrasonic transducers.

Over 8 years experience on severe acute poisoning requiring intensive care in Hong Kong, China.

PubMed

Lam, Sin-Man; Lau, Arthur Chun-Wing; Yan, Wing-Wa

2010-09-01

In order to obtain up-to-date information on the pattern of severe acute poisoning and the characteristics and outcomes of these patients, 265 consecutive patients admitted to an intensive care unit in Hong Kong for acute poisoning from January 2000 to May 2008 were studied retrospectively. Benzodiazepine (25.3%), alcohol (23%), tricyclic antidepressant (17.4%), and carbon monoxide (15.1%) were the four commonest poisons encountered. Impaired consciousness was common and intubation was required in 67.9% of admissions, with a median duration of mechanical ventilation of less than 1 day. The overall mortality was 3.0%. Among the 257 survivors, the median lengths of stay in the intensive care unit and acute hospital (excluding days spent in psychiatric ward and convalescent hospital) were less than 1 day and 3 days, respectively. Factors associated with a longer length of stay included age of 65 or older, presence of comorbidity, Acute Physiology and Chronic Health Evaluation II score of 25 or greater, and development of shock, rhabdomyolysis, and aspiration pneumonia, while alcohol intoxication was associated with a shorter stay. This is the largest study of its kind in the Chinese population and provided information on the pattern of severe acute poisoning requiring intensive care admission and the outcomes of the patients concerned.

T cells are not required for pathogenesis in the Syrian hamster model of hantavirus pulmonary syndrome.

PubMed

Hammerbeck, Christopher D; Hooper, Jay W

2011-10-01

Andes virus (ANDV) is associated with a lethal vascular leak syndrome in humans termed hantavirus pulmonary syndrome (HPS). In hamsters, ANDV causes a respiratory distress syndrome closely resembling human HPS. The mechanism for the massive vascular leakage associated with HPS is poorly understood; however, T cell immunopathology has been implicated on the basis of circumstantial and corollary evidence. Here, we show that following ANDV challenge, hamster T cell activation corresponds with the onset of disease. However, treatment with cyclophosphamide or specific T cell depletion does not impact the course of disease or alter the number of surviving animals, despite significant reductions in T cell number. These data demonstrate, for the first time, that T cells are not required for hantavirus pathogenesis in the hamster model of human HPS. Depletion of T cells from Syrian hamsters did not significantly influence early events in disease progression. Moreover, these data argue for a mechanism of hantavirus-induced vascular permeability that does not involve T cell immunopathology.

Meeting the International Health Regulations (2005) surveillance core capacity requirements at the subnational level in Europe: the added value of syndromic surveillance.

PubMed

Ziemann, Alexandra; Rosenkötter, Nicole; Riesgo, Luis Garcia-Castrillo; Fischer, Matthias; Krämer, Alexander; Lippert, Freddy K; Vergeiner, Gernot; Brand, Helmut; Krafft, Thomas

2015-02-07

The revised World Health Organization's International Health Regulations (2005) request a timely and all-hazard approach towards surveillance, especially at the subnational level. We discuss three questions of syndromic surveillance application in the European context for assessing public health emergencies of international concern: (i) can syndromic surveillance support countries, especially the subnational level, to meet the International Health Regulations (2005) core surveillance capacity requirements, (ii) are European syndromic surveillance systems comparable to enable cross-border surveillance, and (iii) at which administrative level should syndromic surveillance best be applied? Despite the ongoing criticism on the usefulness of syndromic surveillance which is related to its clinically nonspecific output, we demonstrate that it was a suitable supplement for timely assessment of the impact of three different public health emergencies affecting Europe. Subnational syndromic surveillance analysis in some cases proved to be of advantage for detecting an event earlier compared to national level analysis. However, in many cases, syndromic surveillance did not detect local events with only a small number of cases. The European Commission envisions comparability of surveillance output to enable cross-border surveillance. Evaluated against European infectious disease case definitions, syndromic surveillance can contribute to identify cases that might fulfil the clinical case definition but the approach is too unspecific to comply to complete clinical definitions. Syndromic surveillance results still seem feasible for comparable cross-border surveillance as similarly defined syndromes are analysed. We suggest a new model of implementing syndromic surveillance at the subnational level. In this model, syndromic surveillance systems are fine-tuned to their local context and integrated into the existing subnational surveillance and reporting structure. By enhancing

Morvan Syndrome

PubMed Central

Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

2016-01-01

A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

Evidence based exercise - clinical benefits of high intensity interval training.

PubMed

Shiraev, Tim; Barclay, Gabriella

2012-12-01

Aerobic exercise has a marked impact on cardiovascular disease risk. Benefits include improved serum lipid profiles, blood pressure and inflammatory markers as well as reduced risk of stroke, acute coronary syndrome and overall cardiovascular mortality. Most exercise programs prescribed for fat reduction involve continuous, moderate aerobic exercise, as per Australian Heart Foundation clinical guidelines. This article describes the benefits of exercise for patients with cardiovascular and metabolic disease and details the numerous benefits of high intensity interval training (HIIT) in particular. Aerobic exercise has numerous benefits for high-risk populations and such benefits, especially weight loss, are amplified with HIIT. High intensity interval training involves repeatedly exercising at a high intensity for 30 seconds to several minutes, separated by 1-5 minutes of recovery (either no or low intensity exercise). HIT is associated with increased patient compliance and improved cardiovascular and metabolic outcomes and is suitable for implementation in both healthy and 'at risk' populations. Importantly, as some types of exercise are contraindicated in certain patient populations and HIIT is a complex concept for those unfamiliar to exercise, some patients may require specific assessment or instruction before commencing a HIIT program.

Smoke inhalation increases intensive care requirements and morbidity in paediatric burns.

PubMed

Tan, Alethea; Smailes, Sarah; Friebel, Thessa; Magdum, Ashish; Frew, Quentin; El-Muttardi, Naguib; Dziewulski, Peter

2016-08-01

Burn survival has improved with advancements in fluid resuscitation, surgical wound management, wound dressings, access to antibiotics and nutritional support for burn patients. Despite these advancements, the presence of smoke inhalation injury in addition to a cutaneous burn still significantly increases morbidity and mortality. The pathophysiology of smoke inhalation has been well studied in animal models. Translation of this knowledge into effectiveness of clinical management and correlation with patient outcomes including the paediatric population, is still limited. We retrospectively reviewed our experience of 13 years of paediatric burns admitted to a regional burn's intensive care unit. We compared critical care requirements and patient outcomes between those with cutaneous burns only and those with concurrent smoke inhalation injury. Smoke inhalation increases critical care requirements and mortality in the paediatric burn population. Therefore, early critical care input in the management of these patients is advised. Copyright © 2016 Elsevier Ltd and ISBI. All rights reserved.

Critical care nursing interventions and the time required for their completion in Intensive Care Units: A Delphi study.

PubMed

Palomar-Aumatell, Xavier; Subirana-Casacuberta, Mireia; Mila-Villarroel, Raimon

2017-12-01

To determine which interventions within the Nursing Interventions Classification are most often applied in intensive care units and to validate the time required for each. A three-stage e-Delphi was conducted; 21 panelists were recruited, seven manager nurses and 14 clinical nurses with higher degrees and more than five years experience in intensive care nursing. The first round explored the most common interventions applied. Additionally, panelists were asked to propose others. In the second round, participants reflected on the interventions where no consensus was reached as well as to estimate the time required for each intervention. In the third, panelists were queried about the time required for the interventions for which consensus regarding the time was not reached. A total of 183 interventions were included; 50% of the "Physiological: Complex" domain. The list included 52 (90%) of the 58 "core interventions for critical care nursing" identified in the Nursing Interventions Classification. The time required for 89.1% of the interventions was the same as in the Nursing Interventions Classification seminal work recommendations. Results provide a clear picture of nursing activity in general intensive care units, allows to tailor the Nursing Intervetions Classification in Catalonia context and to confirm findings of previous studies. Copyright © 2017 Elsevier Ltd. All rights reserved.

Syndrome of inappropriate antidiuretic hormone secretion related to Guillain-Barré syndrome after laparoscopic cholecystectomy.

PubMed

Çakırgöz, Mensure Yılmaz; Duran, Esra; Topuz, Cem; Kara, Deniz; Turgut, Namigar; Türkmen, Ülkü Aygen; Turanç, Bülent; Dolap, Mustafa Önder; Hancı, Volkan

2014-01-01

Guillain-Barré Syndrome is one of the most common causes of acute polyneuropathy in adults. Recently, the occurrence of Guillain-Barré Syndrome after major and minor surgical operations has been increasingly debated. In Guillain-Barré syndrome, syndrome of inappropriate antidiuretic hormone secretion and dysautonomy are generally observed after maximal motor deficit. A 44-year-old male patient underwent a laparoscopic cholecystectomy for acute cholecystitis. After the development of a severe headache, nausea, diplopia, and attacks of hypertension in the early postoperative period, a computer tomography of the brain was normal. Laboratory tests revealed hyponatremia linked to syndrome of inappropriate antidiuretic hormone secretion, the patient's fluids were restricted, and furosemide and 3% NaCl treatment was initiated. On the second day postoperative, the patient developed numbness moving upward from the hands and feet, loss of strength, difficulty swallowing and respiratory distress. Guillain-Barré syndrome was suspected, and the patient was moved to intensive care. Cerebrospinal fluid examination showed 320 mg/dL protein, and acute motor-sensorial axonal neuropathy was identified by electromyelography. Guillain-Barré syndrome was diagnosed, and intravenous immune globulin treatment (0.4 g/kg/day, 5 days) was initiated. After 10 days in the intensive care unit, at which the respiratory, hemodynamic, neurologic and laboratory results returned to normal, the patient was transferred to the neurology service. Our case report indicates that although syndrome of inappropriate antidiuretic hormone secretion and autonomic dysfunction are rarely the initial characteristics of Guillain-Barré syndrome, the possibility of postoperative syndrome of inappropriate antidiuretic hormone secretion should be kept in mind. The presence of secondary hyponatremia in this type of clinical presentation may delay diagnosis. Copyright © 2013 Sociedade Brasileira de Anestesiologia

Velo-Cardio-Facial Syndrome

PubMed Central

Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

2010-01-01

Velocardiofacial syndrome (VCFS) also known as DiGeorge, conotruncal anomaly face and Cayler syndromes is caused by a microdeletion in the long arm of chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the microdeletion region and the physical and neuropsychiatric phenotype of the syndrome. Velocardiofacial syndrome has a wide spectrum of more than 200 physical manifestations including palate and cardiac anomalies. Yet, the most challenging manifestations of VCFS are the learning disabilities and neuropsychiatric disorders. As VCFS is relatively common and as up to one third of the subjects with VCFS develop schizophrenia like psychotic disorder the syndrome is the most commonly known genetic risk factor to schizophrenia. Identifying the genetic, cognitive and psychiatric risk factors for VCFS-schizophrenia is under the focus of intensive research. PMID:20111667

[Wilkie Syndrome. A case report].

PubMed

González Hermosillo-Cornejo, Daniel; Díaz Girón-Gidi, Alejandro; Vélez-Pérez, Francisco Manuel; Lemus-Ramírez, Ramón Ignacio; Andrade Martínez-Garza, Pablo

Wilkie syndrome, also referred as superior mesenteric artery syndrome, is an unusual cause of a proximal small bowel obstruction. It is characterised by the compression of the duodenum in its third portion due to a narrowing of the space between the superior mesenteric artery and the aorta. Its presentation symptoms are consistent and include the obstruction of the proximal small bowel. However, the physical and laboratory findings are non-specific. Nevertheless, many imaging methods are useful for its diagnosis. The management of this condition varies between observation and surgery, depending on each particular case. The case is presented of a 19 year-old male who began with acute, intense abdominal pain, nausea, vomiting, and diarrhoea. On examination, he had abdominal wall rigidity and hyperesthesia. Imaging studies were requested, revealing a decreased superior mesenteric artery angle, a shortening of the aortic mesenteric distance, and a decrease in the calibre of the third duodenal portion, all findings concomitant with Wilkie syndrome. Conservative treatment was applied and the patient was discharged without complications. Wilkie syndrome continues to be an unknown condition to the general practitioner, and the underdiagnosis of this condition may put a patient at risk of serious complications. A high index of suspicion is required to reach a diagnosis. Early treatment should give a good outcome most of the time. Copyright © 2015 Academia Mexicana de Cirugía A.C. Publicado por Masson Doyma México S.A. All rights reserved.

Results of a questionnaire on the treatment of patients with Behçet's syndrome: a trend for more intensive treatment.

PubMed

Turkstra, F; van Vugt, R M; Dijkmans, B A C; Yazici, Y; Yazici, H

2012-01-01

To determine the preferred treatment for patients with Behçet's syndrome. A questionnaire was given to all participants of the 2010 meeting of the International Society for Behçet's Disease. Forty-one respondents from 6 different subspecialties. In the case of a patient with (severe) posterior uveitis or parenchymal central nervous system (CNS) disease no consensus was seen. A diffuse spectrum of different schedules were given. In both uveitis and CNS disease the majority of respondents preferred treatment options consisting of combination systemic therapy and systemic corticosteroids. TNF was preferred as first line drug in uveitis in 7.5% and in severe uveitis in 32.5% of respondents. In parenchymal CNS disease TNF blockage was given by 17% of the respondents. EULAR guidelines regarding uveitis were followed by 12/40 physicians. In patients with a new deep vein thrombosis, 90% of respondents would intensify immunosuppression. More than half would also anticoagulate. Although consensus about how to treat patients with Behçet syndrome in different clinical situations is far from present, treatment has become more intensive when compared to 10-20 years ago. More uniformity should be sought for in the decision process in individual patients with Behçet's syndrome, regarding their treatment, as well as adhering to evidence, as presented in the EULAR guidelines, when present.

Fournier gangrene associated with hyper IgE syndrome (Job syndrome).

PubMed

Hori, Junichi; Yamaguchi, Satoshi; Watanabe, Masaki; Osanai, Hiroaki; Hori, Masako

2008-04-01

We report a case of a 32-year-old man with hyper IgE syndrome (Job syndrome) who developed Fournier gangrene due to infectious multiple atheromas of the scrotal skin that progressed to the right groin and thigh. The patient required surgical debridement and subsequent skin grafting. This is a rare case of Fournier gangrene associated with hyper IgE syndrome (Job syndrome). When a patient without diabetes mellitus has repeated infections and atopic-like dermatitis, Job syndrome should be considered.

High-intensity interval training improves inflammatory and adipokine profiles in postmenopausal women with metabolic syndrome.

PubMed

Steckling, Flávia Mariel; Farinha, Juliano Boufleur; Figueiredo, Felipe da Cunha; Santos, Daniela Lopes Dos; Bresciani, Guilherme; Kretzmann, Nélson Alexandre; Stefanello, Sílvio Terra; Courtes, Aline Alves; Beck, Maristela de Oliveira; Sangoi Cardoso, Manuela; Duarte, Marta Maria Medeiros Frescura; Moresco, Rafael Noal; Soares, Félix Alexandre Antunes

2018-02-12

This study investigate the effects of high-intensity interval training (HIIT) on systemic levels of inflammatory and hormonal markers in postmenopausal women with metabolic syndrome (MS). Fifteen postmenopausal women with MS completed the training on treadmills. Functional, body composition parameters, maximal oxygen uptake (VO 2 max), and lipid profile were assessed before and after HIIT. Serum or plasma levels of cytokines and hormonal markers were measured along the intervention. The analysis of messenger RNA (mRNA) expression of these cytokines was performed in peripheral blood mononuclear cells (PBMC). VO 2 max and some anthropometric parameters were improved after HIIT, while decreased levels of proinflammatory markers and increased levels of interleukin-10 (IL-10) were also found. Adipokines were also modulated after 12 weeks or training. The mRNA expression of the studied genes was unchanged after HIIT. In conclusion, HIIT benefits inflammatory and hormonal axis on serum or plasma samples, without changes on PBMC of postmenopausal MS patients.

Variable-Intensity Simulated Team-Sport Exercise Increases Daily Protein Requirements in Active Males.

PubMed

Packer, Jeffrey E; Wooding, Denise J; Kato, Hiroyuki; Courtney-Martin, Glenda; Pencharz, Paul B; Moore, Daniel R

2017-01-01

Protein requirements are generally increased in strength and endurance trained athletes relative to their sedentary peers. However, less is known about the daily requirement for this important macronutrient in individuals performing variable intensity, stop-and-go type exercise that is typical for team sport athletes. The objective of the present study was to determine protein requirements in active, trained adult males performing a simulated soccer match using the minimally invasive indicator amino acid oxidation (IAAO) method. After 2 days of controlled diet (1.2 g⋅kg -1 ⋅day -1 protein), seven trained males (23 ± 1 years; 177.5 ± 6.7 cm; 82.3 ± 6.1 kg; 13.5% ± 4.7% body fat; 52.3 ± 5.9 ml O 2 ⋅kg -1 ⋅min -1 ; mean ± SD) performed an acute bout of variable intensity exercise in the form of a modified Loughborough Intermittent Shuttle Test (4 × 15 min of exercise over 75 min). Immediately after exercise, hourly meals were consumed providing a variable amount of protein (0.2-2.6 g⋅kg -1 ⋅day -1 ) and sufficient energy and carbohydrate (6 g⋅kg -1 ⋅day -1 ). Protein was provided as a crystalline amino acids modeled after egg protein with the exception of phenylalanine and tyrosine, which were provided in excess to ensure the metabolic partitioning of the indicator amino acid (i.e., [1- 13 C]phenylalanine included within the phenylalanine intake) was directed toward oxidation when protein intake was limiting. Whole body phenylalanine flux and 13 CO 2 excretion (F 13 CO 2 ) were determined at metabolic and isotopic steady state from urine and breath samples, respectively. Biphasic linear regression analysis was performed on F 13 CO 2 to determine the estimated average requirement (EAR) for protein with a safe intake defined as the upper 95% confidence interval. Phenylalanine flux was not impacted by protein intake ( P  = 0.45). Bi-phase linear regression ( R 2  = 0.64) of F 13 CO 2 resulted

Gorlin-Goltz syndrome--a medical condition requiring a multidisciplinary approach.

PubMed

Kiwilsza, Małgorzata; Sporniak-Tutak, Katarzyna

2012-09-01

Gorlin-Goltz syndrome is a rare genetic condition showing a variable expressiveness. It is inherited in a dominant autosomal way. The strongest characteristic of the disease includes multiple basal cell carcinomas, jaw cysts, palmar and plantar pits, skeletal abnormalities and other developmental defects. Owing to the fact that the condition tends to be a multisystemic disorder, familiarity of various medical specialists with its manifestations may reduce the time necessary for providing a diagnosis. It will also enable them to apply adequate methods of treatment and secondary prevention. In this study, we present symptoms of the disease, its diagnostic methods and currently used treatments. We searched 2 scientific databases: Medline (EBSCO) and Science Direct, for the years 1996 to 2011. In our search of abstracts, key words included nevoid basal cell carcinoma syndrome and Gorlin-Goltz syndrome. We examined 287 studies from Medline and 80 from Science Direct, all published in English. Finally, we decided to use 60 papers, including clinical cases and literature reviews. Patients with Gorlin-Goltz syndrome need particular multidisciplinary medical care. Knowledge of multiple and difficult to diagnose symptoms of the syndrome among professionals of various medical specialties is crucial. The consequences of the disease pose a threat to the health and life of patients. Therefore, an early diagnosis creates an opportunity for effective prevention and treatment of the disorder. Prevention is better than cure.

T Cells Are Not Required for Pathogenesis in the Syrian Hamster Model of Hantavirus Pulmonary Syndrome ▿

PubMed Central

Hammerbeck, Christopher D.; Hooper, Jay W.

2011-01-01

Andes virus (ANDV) is associated with a lethal vascular leak syndrome in humans termed hantavirus pulmonary syndrome (HPS). In hamsters, ANDV causes a respiratory distress syndrome closely resembling human HPS. The mechanism for the massive vascular leakage associated with HPS is poorly understood; however, T cell immunopathology has been implicated on the basis of circumstantial and corollary evidence. Here, we show that following ANDV challenge, hamster T cell activation corresponds with the onset of disease. However, treatment with cyclophosphamide or specific T cell depletion does not impact the course of disease or alter the number of surviving animals, despite significant reductions in T cell number. These data demonstrate, for the first time, that T cells are not required for hantavirus pathogenesis in the hamster model of human HPS. Depletion of T cells from Syrian hamsters did not significantly influence early events in disease progression. Moreover, these data argue for a mechanism of hantavirus-induced vascular permeability that does not involve T cell immunopathology. PMID:21775442

Definition of Specific Functions and Procedural Skills Required by Cuban Specialists in Intensive Care and Emergency Medicine.

PubMed

Véliz, Pedro L; Berra, Esperanza M; Jorna, Ana R

2015-07-01

INTRODUCTION Medical specialties' core curricula should take into account functions to be carried out, positions to be filled and populations to be served. The functions in the professional profile for specialty training of Cuban intensive care and emergency medicine specialists do not include all the activities that they actually perform in professional practice. OBJECTIVE Define the specific functions and procedural skills required of Cuban specialists in intensive care and emergency medicine. METHODS The study was conducted from April 2011 to September 2013. A three-stage methodological strategy was designed using qualitative techniques. By purposive maximum variation sampling, 82 professionals were selected. Documentary analysis and key informant criteria were used in the first stage. Two expert groups were formed in the second stage: one used various group techniques (focus group, oral and written brainstorming) and the second used a three-round Delphi method. In the final stage, a third group of experts was questioned in semistructured in-depth interviews, and a two-round Delphi method was employed to assess priorities. RESULTS Ultimately, 78 specific functions were defined: 47 (60.3%) patient care, 16 (20.5%) managerial, 6 (7.7%) teaching, and 9 (11.5%) research. Thirty-one procedural skills were identified. The specific functions and procedural skills defined relate to the profession's requirements in clinical care of the critically ill, management of patient services, teaching and research at the specialist's different occupational levels. CONCLUSIONS The specific functions and procedural skills required of intensive care and emergency medicine specialists were precisely identified by a scientific method. This product is key to improving the quality of teaching, research, administration and patient care in this specialty in Cuba. The specific functions and procedural skills identified are theoretical, practical, methodological and social contributions to

The effects of exercise program on burnout and metabolic syndrome components in banking and insurance workers.

PubMed

Tsai, Han Hui; Yeh, Ching Ying; Su, Chien Tien; Chen, Chiou Jong; Peng, Shu Mei; Chen, Ruey Yu

2013-01-01

To explore the effectiveness of exercise program for banking and insurance workers and clarify the association between exercise, burnout, and metabolic syndrome components. In the process of the study, a practicable worksite exercise program was developed for bank and insurance enterprises. A three-month (12-wk) exercise course was conducted, and its benefits evaluated. Levels of burnout and metabolic syndrome components were analyzed after exercise intervention. After intervention, the indicators of burnout and metabolic syndrome components were significantly improved in both low and high intensity groups, and the improvement were expressed in reduction of waist circumference, systolic blood pressure, person burnout and work-related burnout. A dose-response of burnouts and metabolic syndrome components with exercise intensity are shown (p<0.05). Metabolic syndrome components were independently associated with burnout and exercise intensity in the crude model. After adjustment for potential confounders, waist circumference and systolic blood pressure differences showed significant associations with exercise intensity (p<0.05). This study demonstrated an effective approach to worksite exercise intervention and exercise intensity played an important role to alleviate damage between burnouts and metabolic syndrome components.

Intensity level for exercise training in fibromyalgia by using mathematical models.

PubMed

Lemos, Maria Carolina D; Valim, Valéria; Zandonade, Eliana; Natour, Jamil

2010-03-22

It has not been assessed before whether mathematical models described in the literature for prescriptions of exercise can be used for fibromyalgia syndrome patients. The objective of this paper was to determine how age-predicted heart rate formulas can be used with fibromyalgia syndrome populations as well as to find out which mathematical models are more accurate to control exercise intensity. A total of 60 women aged 18-65 years with fibromyalgia syndrome were included; 32 were randomized to walking training at anaerobic threshold. Age-predicted formulas to maximum heart rate ("220 minus age" and "208 minus 0.7 x age") were correlated with achieved maximum heart rate (HRMax) obtained by spiroergometry. Subsequently, six mathematical models using heart rate reserve (HRR) and age-predicted HRMax formulas were studied to estimate the intensity level of exercise training corresponding to heart rate at anaerobic threshold (HRAT) obtained by spiroergometry. Linear and nonlinear regression models were used for correlations and residues analysis for the adequacy of the models. Age-predicted HRMax and HRAT formulas had a good correlation with achieved heart rate obtained in spiroergometry (r = 0.642; p < 0.05). For exercise prescription in the anaerobic threshold intensity, the percentages were 52.2-60.6% HRR and 75.5-80.9% HRMax. Formulas using HRR and the achieved HRMax showed better correlation. Furthermore, the percentages of HRMax and HRR were significantly higher for the trained individuals (p < 0.05). Age-predicted formulas can be used for estimating HRMax and for exercise prescriptions in women with fibromyalgia syndrome. Karnoven's formula using heart rate achieved in ergometric test showed a better correlation. For the prescription of exercises in the threshold intensity, 52% to 60% HRR or 75% to 80% HRMax must be used in sedentary women with fibromyalgia syndrome and these values are higher and must be corrected for trained patients.

[Influenza infection in intensive cardiac care unit patients].

PubMed

Ciuraszkiewicz, Katrzyna; Sielski, Janusz; Janion-Sadowska, Agnieszka; Stern, Agnieszka; Zychowicz, Joanna; Kaziród-Wolski, Karol; Paluchowski, Marian

2014-03-01

Infection with influenza type A virus may cause serious cardiovascular complications, such as myocarditis, heart failure, acute myocardial infarction. Also infection with influenza type AH1N1 may contribute to aggravation of cardiac disorders, i.e. acute coronary syndrome, heart failure, cardiogenic shock, severe ventricular arrythmias. One of the most fatal complication of influenza is pneumonia leading to acute respiratory insufficiency requiring artifitial ventilation. Symptoms of respiratory tract infections durnig influenza epidemy should always be treated with a high index of suspicion. Early diagnosis and adequate antiviral treatment may prevent those complications. A series of four cases of patients hospitalised in intensive cardiac care unit due to suspected cardiac dyspnea and finally diagnosed as a cardiac disease complicated by influenza pneumonia is presented.

Pheochromocytoma presenting with Takotsubo syndrome.

PubMed

Marcovitz, Pamela A; Czako, Peter; Rosenblatt, Solomon; Billecke, Scott S

2010-10-01

The clinical presentation of Takotsubo syndrome, or apical ballooning syndrome, resembles an extensive anterolateral myocardial infarction with chest pain symptoms and electrocardiographic ST-elevation or T-wave inversion noted in most patients. However, coronary arteries are invariably found to be normal or to display minimal atherosclerotic disease despite modest elevation of cardiac enzymes. Since most cases of Takotsubo syndrome occur after intense physical and/or emotional stress, catecholamine surge appears to be a common underlying mechanism. We present a case of Takotsubo syndrome, which presented with unusual symptoms and was found to be caused by pheochromocytoma. A sudden rise in blood pressure moments after completion of echocardiographic stress testing aided in uncovering the diagnosis. ©2010, Wiley Periodicals, Inc.

A Nonfatal Case of Dobrava Hantavirus Hemorrhagic Fever with Renal Syndrome Combined with Hantavirus Cardiopulmonary Syndrome.

PubMed

Dreshaj, Shemsedin; Ajazaj, Lindita; Hasani, Nderim; Halili, Bahrije; Ponosheci, Albina; Jakupi, Xhevat

2018-01-01

Among hantaviruses (HTNV), 22 are known as pathogenic for humans. HTNV can cause two clinical entities: hemorrhagic fever with renal syndrome (HFRS) and hantavirus pulmonary syndrome or hantavirus cardiopulmonary syndrome (HCPS). In most countries of Eastern Europe as well as in Kosovo, HTNV infection is presented mainly as HFRS. Here, we report a 20-year-old man with HFRS and HCPS caused by Dobrava hantavirus strain, successfully treated in Intensive Care Unit of Infectious Diseases Clinic, University Clinical Center of Kosovo. In HFRS endemic areas, patients with acute respiratory distress syndrome need to be evaluated for Dobrava hantavirus strain as a possible causative agent.

46 CFR 161.013-5 - Intensity requirements.

Code of Federal Regulations, 2011 CFR

2011-10-01

... of the light corrected for the length of the flash and is determined by the formula: EFI = I × (tc − ti) / 0.2 + (tc − ti) Where: I is the measured intensity of the fixed beam, tc is the contact closure...

46 CFR 161.013-5 - Intensity requirements.

Code of Federal Regulations, 2010 CFR

2010-10-01

... of the light corrected for the length of the flash and is determined by the formula: EFI = I × (tc − ti) / 0.2 + (tc − ti) Where: I is the measured intensity of the fixed beam, tc is the contact closure...

Financial impact of nursing professionals staff required in an Intensive Care Unit 1

PubMed Central

de Araújo, Thamiris Ricci; Menegueti, Mayra Gonçalves; Auxiliadora-Martins, Maria; Castilho, Valéria; Chaves, Lucieli Dias Pedreschi; Laus, Ana Maria

2016-01-01

ABSTRACT Objective: to calculate the cost of the average time of nursing care spent and required by patients in the Intensive Care Unit (ICU) and the financial expense for the right dimension of staff of nursing professionals. Method: a descriptive, quantitative research, using the case study method, developed in adult ICU patients. We used the workload index - Nursing Activities Score; the average care time spent and required and the amount of professionals required were calculated using equations and from these data, and from the salary composition of professionals and contractual monthly time values, calculated the cost of direct labor of nursing. Results: the monthly cost of the average quantity of available professionals was US$ 35,763.12, corresponding to 29.6 professionals, and the required staff for 24 hours of care is 42.2 nurses, with a monthly cost of US$ 50,995.44. Conclusion: the numerical gap of nursing professionals was 30% and the monthly financial expense for adaptation of the structure is US$ 15,232.32, which corresponds to an increase of 42.59% in the amounts currently paid by the institution. PMID:27878219

Effect of Continuous Paravertebral Dexmedetomidine Administration on Intraoperative Anesthetic Drug Requirement and Post-Thoracotomy Pain Syndrome After Thoracotomy: A Randomized Controlled Trial.

PubMed

Dutta, Vikas; Kumar, Bhupesh; Jayant, Aveek; Mishra, Anand K

2017-02-01

To assess the effect of paravertebral administration of dexmedetomidine as an adjuvant to local anesthetic on the intraoperative anesthetic drug requirement and incidence of post-thoracotomy pain syndrome. Prospective, randomized, controlled, double-blind trial. Single university hospital. The study comprised 30 patients who underwent elective thoracotomy and were assigned randomly to either the Ropin or Dexem group (n = 15 each). All patients received the study medications through paravertebral catheter. Patients in the Ropin group received a bolus of 15 mL of 0.75% ropivacaine over 3-to-5 minutes followed by an infusion of 0.2% ropivacaine at 0.1 mL/kg/hour. Patients in the Dexem group received 15 mL of 0.75% ropivacaine plus dexmedetomidine, 1 µg/kg bolus over 3-to-5 minutes followed by an infusion of 0.2% ropivacaine plus 0.2 µg/kg/hour of dexmedetomidine at 0.1 mL/kg/hour. The primary outcome of the study was intraoperative anesthetic drug requirement. The secondary outcome was the incidence of post-thoracotomy pain syndrome 2 months after surgery. The amount of propofol required for induction of anesthesia was significantly less in the Dexem group (Dexem 49.33±20.51 v 74.33±18.40 in the Ropin group, p = 0.002). End-tidal isoflurane needed to maintain target entropy was significantly less in the Dexem group at all time points. Intraoperative fentanyl requirement was lower in the Dexem group (Dexem 115.33±33.77 v 178.67±32.48 in the Ropin group, p = 0.002). Postoperative pain scores and morphine consumption were significantly less in the Dexem group (p<0.001). The incidence of post-thoracotomy pain syndrome was comparable between the 2 groups (69.23% v 50%, p = 0.496). Paravertebral dexmedetomidine administration resulted in decreased intraoperative anesthetic drug requirement, less pain, and lower requirements of supplemental opioid in the postoperative period. However, it had no effect on the incidence of post-thoracotomy pain syndrome. Copyright �

Burning Mouth Syndrome: A Review of the Etiopathologic Factors and Management.

PubMed

Vellappally, Sajith

2016-02-01

Burning mouth syndrome (BMS) is characterized by pain in the mouth with or with no inflammatory signs and no specific lesions. Synonyms found in literature include glossodynia, oral dysesthesia, glossopyrosis, glossalgia, stomatopyrosis, and stomatodynia. Burning mouth syndrome generally presents as a triad: Mouth pain, alteration in taste, and altered salivation, in the absence of visible mucosal lesions in the mouth. The syndrome generally manifests spontaneously, and the discomfort is typically of a continuous nature but increases in intensity during evening and at night. The etiopathogenesis seems to be complex and in a large number of patients probably involves interactions among local, systemic, and/or psychogenic factors. The differential diagnosis requires the exclusion of oral mucosal lesions or blood test alterations that can produce burning mouth sensation. Management is always based on the etiological agents involved. If burning persists after local or systemic conditions are treated, then treatment is aimed at controlling neuropathic symptoms. Treatment of BMS is still unsatisfactory, and there is no definitive cure. As a result, a multidisciplinary approach is required to bring the condition under better control. The aim of this review was to discuss several aspects of BMS, update current knowledge, and provide guidelines for patient management.

Bardet-Biedl syndrome and Usher syndrome.

PubMed

Koenig, Rainer

2003-01-01

Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP), together they make up almost a quarter of the patients with RP. BBS is defined by the association of retinopathy, obesity, hypogonadism, renal dysfunction, postaxial polydactyly and mental retardation. This clinically complex syndrome is genetically heterogeneous with linkage to more than 6 loci, and 4 genes have been cloned so far. Recent molecular data present evidence that, in some instances, the clinical manifestation of BBS requires recessive mutations in 1 of the 6 BBS loci plus one or two additional mutations in a second BBS locus (tri- or tetra-allelic inheritance). USH is characterized by the combination of congenital or early-onset sensorineural deafness, RP, and variable degrees of vestibular dysfunction. Each of the three clinical types is genetically heterogeneous: 7 loci have been mapped for type 1, three loci for type 2, and two loci for type 3. Currently, 6 USH genes (MYO7A, USH1C, CDH23, PCDH15, USH2A, USH3) have been identified. Pathogenetically, mutations of the USH1 genes seem to result in defects of auditory and retinal sensory cells, the USH 2 phenotype is caused by defects of extracellular matrix or cell surface receptor proteins, and USH3 may be due to synaptic disturbances. The considerable contribution of syndromic forms of RP requires interdisciplinary approaches to the clinical and diagnostic management of RP patients.

[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.

[Poland syndrome and myasthenia gravis].

PubMed

Padua-Gabriel, A; Navarro-Reynoso, F; Cicero-Sabido, R

1989-01-01

A female patient, 17 years old with Poland's syndrome and myasthenia gravis was seen due to a bronchial infection and atelectasis. The respiratory pathology was treated by bronchial aspiration and respiratory support in the intensive care unit. The myasthenia gravis improved substantially after thymectomy. The association of Poland's syndrome and myasthenia is rare and it has not been reported previously; it may be a factor in the pulmonary pathology observed in this case.

Developmental and Psychological Aspects of the Savant Syndrome.

ERIC Educational Resources Information Center

Wehmeyer, Michael L.

1992-01-01

This literature review examines the psychological aspects of the savant syndrome in people with intellectual disabilities, focusing on the means by which such abilities as calendar calculation are accomplished and highlighting variables (such as intense motivation in one area) postulated as important for development of the syndrome. (Author/DB)

Exercise training dose differentially alters muscle and heart capillary density and metabolic functions in an obese rat with metabolic syndrome.

PubMed

Machado, Marcus Vinicius; Vieira, Aline Bomfim; da Conceição, Fabiana Gomes; Nascimento, Alessandro Rodrigues; da Nóbrega, Antonio Claudio Lucas; Tibirica, Eduardo

2017-12-01

What is the central question of this study? Regular exercise is recommended as a non-pharmacological approach for the prevention and treatment of metabolic syndrome. However, the impact of different combinations of intensity, duration and frequency of exercise on metabolic syndrome and microvascular density has not been reported. What is the main finding and its importance? We provide evidence on the impact of aerobic exercise dose on metabolic and microvascular alterations in an experimental model of metabolic syndrome induced by high-fat diet. We found that the exercise frequency and duration were the main factors affecting anthropometric and metabolic parameters and microvascular density in the skeletal muscle. Exercise intensity was related only to microvascular density in the heart. We evaluated the effect of the frequency, duration and intensity of exercise training on metabolic parameters and structural capillary density in obese rats with metabolic syndrome. Wistar-Kyoto rats were fed either a standard commercial diet (CON) or a high-fat diet (HFD). Animals that received the HFD were randomly separated into either a sedentary (SED) group or eight different exercise groups that varied according to the frequency, duration and intensity of training. After 12 weeks of aerobic exercise training, the body composition, aerobic capacity, haemodynamic variables, metabolic parameters and capillary density in the heart and skeletal muscle were evaluated. All the exercise training groups showed reduced resting systolic blood pressure and heart rate and normalized fasting glucose. The minimal amount of exercise (90 min per week) produced little effect on metabolic syndrome parameters. A moderate amount of exercise (150 min per week) was required to reduce body weight and improve capillary density. However, only the high amount of exercise (300 min per week) significantly reduced the amount of body fat depots. The three-way ANOVA showed a main effect of exercise

Innovation and Technology: Electronic Intensive Care Unit Diaries.

PubMed

Scruth, Elizabeth A; Oveisi, Nazanin; Liu, Vincent

2017-01-01

Hospitalization in the intensive care unit can be a stressful time for patients and their family members. Patients' family members often have difficulty processing all of the information that is given to them. Therefore, an intensive care unit diary can serve as a conduit for synthesizing information, maintaining connection with patients, and maintaining a connection with family members outside the intensive care unit. Paper intensive care unit diaries have been used outside the United States for many years. This article explores the development of an electronic intensive care unit diary using a rapid prototyping model to accelerate the process. Initial results of design testing demonstrate that it is feasible, useful, and desirable to consider the implementation of electronic intensive care unit diaries for patients at risk for post-intensive care syndrome. ©2017 American Association of Critical-Care Nurses.

Effects of intense aerobic exercise and/or antihypertensive medication in individuals with metabolic syndrome.

PubMed

Ramirez-Jimenez, M; Morales-Palomo, F; Ortega, J F; Mora-Rodriguez, R

2018-05-17

We studied the blood pressure lowering effects of a bout of exercise and/or antihypertensive medicine with the goal of studying if exercise could substitute or enhance pharmacologic hypertension treatment. Twenty-three hypertensive metabolic syndrome patients chronically medicated with angiotensin II receptor 1 blockade antihypertensive medicine underwent 24-hr monitoring in four separated days in a randomized order; a) after taking their habitual dose of antihypertensive medicine (AHM trial), b) substituting their medicine by placebo medicine (PLAC trial), c) placebo medicine with a morning bout of intense aerobic exercise (PLAC+EXER trial) and d) combining the exercise and antihypertensive medicine (AHM+EXER trial). We found that in trials with AHM subjects had lower plasma aldosterone/renin activity ratio evidencing treatment compliance. Before exercise, the trials with AHM displayed lower systolic (130±16 vs 133±15 mmHg; P=0.018) and mean blood pressures (94±11 vs 96±10 mmHg; P=0.036) than trials with placebo medication. Acutely (i.e., 30 min after treatments) combining AHM+EXER lowered systolic blood pressure (SBP) below the effects of PLAC+EXER (-8.1±1.6 vs -4.9±1.5 mmHg; P=0.015). Twenty-four hour monitoring revealed no differences among trials in body motion. However, PLAC+EXER and AHM lowered SBP below PLAC during the first 10 hours, time at which PLAC+EXER effects faded out (i.e., at 19 PM). Adding exercise to medication (i.e., AHM+EXER) resulted in longer reductions in SBP than with exercise alone (PLAC+EXER). In summary, one bout of intense aerobic exercise in the morning cannot substitute the long-lasting effects of antihypertensive medicine in lowering blood pressure, but their combination is superior to exercise alone. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

Relationship between red vent syndrome and anisakid larvae burden in wild atlantic salmon (salmo salar).

PubMed

Larrat, Sylvain; Bouchard, Francis; Séguin, Guylaine; Lair, Stéphane

2013-04-01

The pathogenesis of the recently recognized "red vent syndrome" in wild Atlantic salmon (Salmo salar) is not fully understood. Pathologic observations indicate that this syndrome is associated with the presence of nonencapsulated larvae of the nematode Anisakis simplex in the body wall, the lower intestinal wall, and the visceral cavity surrounding the vent region. We evaluated the relationship between the occurrence of red vent syndrome and intensity of infection with Anisakis sp. larvae in naturally infected fish. Salmon caught by sport anglers were opportunistically evaluated to detect red vent syndrome. We included 106 salmon with red vent syndrome and 98 without red vent syndrome in this study. Intensity of infection was established by counting the total number of perivisceral larvae and by determining the number of larvae per gram in 10 g of pepsin-digested perianal tissue. The severity of inflammatory changes was also evaluated in standard histologic sections of the perianal area using a semiquantitative scale. Salmon with red vent syndrome had significantly higher intensity of inflammation than salmon without red vent syndrome (P=0.008). The odds of having red vent syndrome increased with the number of perianal larvae per gram of perianal tissue (P=0.002; odds ratio [OR]=1.12; 95% confidence interval: [1.05; 1.22]) but not with the number of perivisceral larvae, fish length, or gender. Although these results support the association between this syndrome and intensity of infection by A. simplex, the relationship is not strong (OR near 1), suggesting that the clinical expression of red vent syndrome at an individual level, and the emergence of this disease on a global scale, must be determined by other factors, such as timing of infection.

Intensity level for exercise training in fibromyalgia by using mathematical models

PubMed Central

2010-01-01

Background It has not been assessed before whether mathematical models described in the literature for prescriptions of exercise can be used for fibromyalgia syndrome patients. The objective of this paper was to determine how age-predicted heart rate formulas can be used with fibromyalgia syndrome populations as well as to find out which mathematical models are more accurate to control exercise intensity. Methods A total of 60 women aged 18-65 years with fibromyalgia syndrome were included; 32 were randomized to walking training at anaerobic threshold. Age-predicted formulas to maximum heart rate ("220 minus age" and "208 minus 0.7 × age") were correlated with achieved maximum heart rate (HRMax) obtained by spiroergometry. Subsequently, six mathematical models using heart rate reserve (HRR) and age-predicted HRMax formulas were studied to estimate the intensity level of exercise training corresponding to heart rate at anaerobic threshold (HRAT) obtained by spiroergometry. Linear and nonlinear regression models were used for correlations and residues analysis for the adequacy of the models. Results Age-predicted HRMax and HRAT formulas had a good correlation with achieved heart rate obtained in spiroergometry (r = 0.642; p < 0.05). For exercise prescription in the anaerobic threshold intensity, the percentages were 52.2-60.6% HRR and 75.5-80.9% HRMax. Formulas using HRR and the achieved HRMax showed better correlation. Furthermore, the percentages of HRMax and HRR were significantly higher for the trained individuals (p < 0.05). Conclusion Age-predicted formulas can be used for estimating HRMax and for exercise prescriptions in women with fibromyalgia syndrome. Karnoven's formula using heart rate achieved in ergometric test showed a better correlation. For the prescription of exercises in the threshold intensity, 52% to 60% HRR or 75% to 80% HRMax must be used in sedentary women with fibromyalgia syndrome and these values are higher and must be corrected for

Gorlin-Goltz syndrome – a medical condition requiring a multidisciplinary approach

PubMed Central

Kiwilsza, Małgorzata; Sporniak-Tutak, Katarzyna

2012-01-01

Summary Gorlin-Goltz syndrome is a rare genetic condition showing a variable expressiveness. It is inherited in a dominant autosomal way. The strongest characteristic of the disease includes multiple basal cell carcinomas, jaw cysts, palmar and plantar pits, skeletal abnormalities and other developmental defects. Owing to the fact that the condition tends to be a multisystemic disorder, familiarity of various medical specialists with its manifestations may reduce the time necessary for providing a diagnosis. It will also enable them to apply adequate methods of treatment and secondary prevention. In this study, we present symptoms of the disease, its diagnostic methods and currently used treatments. We searched 2 scientific databases: Medline (EBSCO) and Science Direct, for the years 1996 to 2011. In our search of abstracts, key words included nevoid basal cell carcinoma syndrome and Gorlin-Goltz syndrome. We examined 287 studies from Medline and 80 from Science Direct, all published in English. Finally, we decided to use 60 papers, including clinical cases and literature reviews. Patients with Gorlin-Goltz syndrome need particular multidisciplinary medical care. Knowledge of multiple and difficult to diagnose symptoms of the syndrome among professionals of various medical specialties is crucial. The consequences of the disease pose a threat to the health and life of patients. Therefore, an early diagnosis creates an opportunity for effective prevention and treatment of the disorder. Prevention is better than cure. PMID:22936202

Reversible splenial lesion syndrome after blood transfusion presents callosal disconnection syndrome: A case report.

PubMed

Ma, Xinxin; Su, Wen; Chen, Haibo

2018-06-01

Reversible splenial lesion syndrome (RESLES) is a reversible condition with an excellent prognosis in most patients. The clinical features include altered states of consciousness, delirium, headache, and seizures, but no callosal disconnection syndromes have been described in RESLES. We presented a 57-year-old patient with alien hand syndrome, autotopagnosia, gait disorders, and left ideomotor apraxia after blood transfusion. The brain magnetic resonance imaging (MRI) showed a few regions with high signal intensity in the genu, body, and splenium of the right corpus callosum on diffusion weighted images. Cerebrovascular examination was unremarkable. He was diagnosed with RESLES and callosal disconnection syndrome. The patient received symptomatic and supportive treatment in our hospital. He recovered to baseline on following up of 6 months and abnormalities on brain MRI completely disappeared. Neurologists should be aware of the symptoms of callosal disconnection syndrome in RESLES. In addition, caution should be taken when transfusing blood products in patients with gastrointestinal bleeding.

Severe group A streptococcal infection and streptococcal toxic shock syndrome.

PubMed

Baxter, F; McChesney, J

2000-11-01

To review the literature on group A streptococcal toxic shock syndrome, (STSS). Medline and EMBASE searches were conducted using the key words group A streptococcal toxic shock syndrome, alone and in combination with anesthesia; and septic shock, combined with anesthesia. Medline was also searched using key words intravenous immunoglobulin, (IVIG) and group A streptococcus, (GAS); and group A streptococcus and antibiotic therapy. Other references were included in this review if they addressed the history, microbiology, pathophysiology, incidence, mortality, presentation and management of invasive GAS infections. Relevant references from the papers reviewed were also considered. Articles on the foregoing topics were included regardless of study design. Non-English language studies were excluded. Literature on the efficacy of IVIG and optimal antibiotic therapy was specifically searched. Reports of invasive GAS infections have recently increased. Invasive GAS infection is associated with a toxic shock syndrome, (STSS), in 8-14% of cases. The STSS characteristically results in shock and multi-organ failure soon after the onset of symptoms, and is associated with a mortality of 33-81%. Many of these patients will require extensive soft tissue debridement or amputation in the operating room, on an emergency basis. The extent of tissue debridement required is often underestimated before skin incision. Management of STSS requires volume resuscitation, vasopressor/inotrope infusion, antibiotic therapy and supportive care in an intensive care unit, usually including mechanical ventilation. Intravenous immunoglobulin infusion has been recommended. Further studies are needed to define the role of IVIG in STSS management and to determine optimal anesthetic management of patients with septic shock.

Irisin in response to exercise in humans with and without metabolic syndrome.

PubMed

Huh, Joo Young; Siopi, Aikaterina; Mougios, Vassilis; Park, Kyung Hee; Mantzoros, Christos S

2015-03-01

Irisin is a recently identified exercise-induced myokine. However, the circulating levels of irisin in response to different types of exercise in subjects with metabolic syndrome are unknown. This study aimed to study the levels of irisin in healthy males and subjects with metabolic syndrome at baseline and in response to exercise. Each individual completed high-intensity interval exercise (HIIE), continuous moderate-intensity exercise (CME), and resistance exercise (RE) sessions in a random, crossover design. Percentage change in circulating irisin levels was examined. Two different irisin assays were used to compare the results of the RE study. Circulating irisin increased immediately after HIIE, CME, and RE and declined 1 hour later. The increase was greater in response to resistance compared with either high-intensity intermittent exercise or CME. Change in irisin in response to exercise did not differ between individuals with and without metabolic syndrome. Exercise is able to increase circulating irisin levels in individuals with the metabolic syndrome as well as healthy individuals. Whether this increase may contribute to the beneficial effects of exercise on patients with the metabolic syndrome remains to be studied further.

Myasthenic crisis patients who require intensive care unit management.

PubMed

Sakaguchi, Hideya; Yamashita, Satoshi; Hirano, Teruyuki; Nakajima, Makoto; Kimura, En; Maeda, Yasushi; Uchino, Makoto

2012-09-01

The purpose of this report was to investigate predictive factors that necessitate intensive care in myasthenic crisis (MC). We retrospectively reviewed MC patients at our institution and compared ICU and ward management groups. Higher MG-ADL scale scores, non-ocular initial symptoms, infection-triggered findings, and higher MGFA classification were observed more frequently in the ICU group. In patients with these prognostic factors, better outcomes may be obtained with early institution of intensive care. Copyright © 2012 Wiley Periodicals, Inc.

CHD risk equivalents and the metabolic syndrome. Trial evidence supports aggressive management.

PubMed

Thompson, Paul D

2003-08-01

Updated guidelines issued by the National Cholesterol Education Program's 2001 Adult Treatment Panel III (ATP III) reaffirm the importance of intensive management of low density lipoprotein cholesterol (LDL-C) in patients with established coronary heart disease (CHD). Clinical studies also show that diabetes, peripheral arterial disease, abdominal aortic aneurysm, and symptomatic carotid artery disease are CHD risk equivalents that require intensive therapeutic lifestyle changes and drug therapy to prevent associated morbidity and mortality. Likewise, the metabolic syndrome is a secondary target of treatment. Drug therapy usually starts with an LDL-C-lowering agent, such as a statin. If LDL-C and non-high-density lipoprotein cholesterol goals are not achieved, statin therapy should be intensified or a fibrate or niacin should be added.

Mobius Syndrome: A 35-Year Single Institution Experience.

PubMed

K McClure, Philip; Kilinc, Eray; Oishi, Scott; I Riccio, Anthony; A Karol, Lori

Mobius syndrome is a rare syndrome that is known to be associated with a variety of orthopaedic conditions including scoliosis, clubfoot, transverse limb deficiencies, Poland syndrome, and a myriad of hand conditions. To date, no large series exist to characterize the orthopaedic manifestations of Mobius syndrome. Medical records at a single tertiary pediatric institution were reviewed for all patients diagnosed with Mobius syndrome from January 1, 1980 to December 31, 2015. Records and radiographs were reviewed for associated orthopaedic conditions and their management. In total, 44 patients with Mobius syndrome were identified. Age at presentation ranged from 6 days to 14 years. When compared with the general population, patients with Mobius syndrome had an increased incidence of clubfoot (41%), Poland syndrome (20%), and scoliosis (14%). Clubfoot treated both before and after the institution of Ponseti casting had a high rate of requiring posteromedial release, with a significant rate of subsequent revision. Hip dysplasia was noted in 1 patient and required surgical correction. Other associated syndromes included arthrogryposis, Pierre Robin syndrome, and chromosome 10 defect. Mobius syndrome is accompanied by an increased rate of several orthopaedic problems; most notably clubfoot, scoliosis, and upper extremity differences that often require surgical treatment. The management of clubfoot in the setting of Mobius syndrome often requires surgical intervention due to failure of casting, and seems to have a higher rate of need for revision. Early involvement of orthopaedists in the care of patients with Mobius syndrome is often necessary. Orthopaedist should counsel families that treatment may be more complex than that of idiopathic disease. Level IV-case series.

The Quality of Mainstreaming in Preschool: The Views of Parents of Children with Down Syndrome

ERIC Educational Resources Information Center

Kayhan, Nilay; Özaydin, Latife

2018-01-01

Down syndrome (DS), one of the developmental (cognitive) deficits, is the most common syndrome that arises from genetic disorders. The mothers of children with DS who encounter the most intense emotional situations since the tendency to take responsibility the children's care and development usually belongs them. Among these intensive feelings,…

High Intensity Interval Training Reduces the Levels of Serum Inflammatory Cytokine on Women with Metabolic Syndrome.

PubMed

Steckling, F M; Farinha, J B; Santos, D L D; Bresciani, G; Mortari, J A; Stefanello, S T; Courtes, A A; Duarte, T; Duarte, M M M F; Moresco, R N; Cardoso, M S; Soares, F A A

2016-11-01

Objectives: This study investigate the effects of a high intensity interval training (HIIT) and 2 weeks of detraining in functional and body composition parameters, lipoproteins, glucose metabolismand inflammation markers in postmenopausal women with metabolic syndrome (MS). Design: 17 untrained women with MS underwent a HIIT program for 12 weeks. Methods: The training was performed in treadmills, 3 days per week, with intensity ranging from 70-90% of the maximum heart rate (HR max ) and 2 weeks untrained (inactive). Functional and body composition parameters were evaluated before and after the training, while maximal oxygen uptake, lipoprotein and inflammation markers were analyzed before, after training and also in detraining. Results: The HITT program resulted in changesparameters as glucose, HbA1cand NOx after training. In addition, a reduction in pro-inflammatory interleukins and an increase in IL-10 after the HIIT program were found. However, an increase in plasma levels of lipoprotein was found and body composition parameters remain unaltered.Besides, only 2 weeks of detraining are able to revert the effects on inflammatory parameters afforded by the HIIT program. Conclusions: The HIIT program used here positively affected inflammatory profile and other parameters, as glucose, HbA1cand NOx, on postmenopausal women with MS. Moreover, 2 weeks of detraining can reverse the beneficial effects of HIIT program. Our results point out the necessity to aply acontinuous HITT program, in order maintain the benefits detected, to post menopausal women with MS. © Georg Thieme Verlag KG Stuttgart · New York.

Quality of life in long-term survivors of intensive care.

PubMed

Buckley, T A; Cheng, A Y; Gomersall, C D

2001-05-01

Traditionally, outcome from intensive care has focused on mortality. The cost of intensive care and the limited resources devoted to patients who have a poor prognosis also raises questions about the utilisation of such resources. There is increasing pressure for outcome evaluation of intensive care to incorporate assessment of long-term survival and the quality of life in survivors. The principal objectives of this article were to examine current methods of assessing quality of life measures in critically ill patients surviving intensive care and to determine the quality of life of these survivors. Direct and computerised search of published research articles. Measurement of quality of life after intensive care is not common practice. There is a lack of consensus concerning appropriate measuring instruments to be used and how best to interpret results. Despite the availability of general outcome tools and disease specific instruments, there is a paucity of studies in the literature which include assessments of quality of life following intensive care unit (ICU) care. Generic health indices suggest that the quality of life in ICU survivors is acceptable though in certain sub-groups, e.g. adult respiratory distress syndrome and sepsis, quality of life may be moderately impaired. ICU survivors appear to suffer less disability than chronic physical disease patients. Assessment of outcome after intensive care should include health related quality of life measurements. A unifying framework is required to enhance communication between clinicians, administrators and investigators of quality of life research and also to enable more rational and effective decision making at the bedside. Patients who survive intensive care appear to enjoy a reasonable standard of quality of life. While their health status may not be as good, subjectively patients find this acceptable.

Emotion Recognition in Children with Down Syndrome: Influence of Emotion Label and Expression Intensity

ERIC Educational Resources Information Center

Cebula, Katie R.; Wishart, Jennifer G.; Willis, Diane S.; Pitcairn, Tom K.

2017-01-01

Some children with Down syndrome may experience difficulties in recognizing facial emotions, particularly fear, but it is not clear why, nor how such skills can best be facilitated. Using a photo-matching task, emotion recognition was tested in children with Down syndrome, children with nonspecific intellectual disability and cognitively matched,…

Physical Training Improves Insulin Resistance Syndrome Markers in Obese Adolescents.

ERIC Educational Resources Information Center

Kang, Hyun-Sik; Gutin, Bernard; Barbeau, Paule; Owens, Scott; Lemmon, Christian R.; Allison, Jerry; Litaker, Mark S.; Le, Ngoc-Anh

2002-01-01

Tested the hypothesis that physical training (PT), especially high-intensity PT, would favorably affect components of the insulin resistance syndrome (IRS) in obese adolescents. Data on teens randomized into lifestyle education (LSE) alone, LSE plus moderate -intensity PT, and LSE plus high-intensity PT indicated that PT, especially high-intensity…

Global climate targets and future consumption level: an evaluation of the required GHG intensity

NASA Astrophysics Data System (ADS)

Girod, Bastien; van Vuuren, Detlef Peter; Hertwich, Edgar G.

2013-03-01

Discussion and analysis on international climate policy often focuses on the rather abstract level of total national and regional greenhouse gas (GHG) emissions. At some point, however, emission reductions need to be translated to consumption level. In this article, we evaluate the implications of the strictest IPCC representative concentration pathway for key consumption categories (food, travel, shelter, goods, services). We use IPAT style identities to account for possible growth in global consumption levels and indicate the required change in GHG emission intensity for each category (i.e. GHG emission per calorie, person kilometer, square meter, kilogram, US dollar). The proposed concept provides guidance for product developers, consumers and policymakers. To reach the 2 °C climate target (2.1 tCO2-eq. per capita in 2050), the GHG emission intensity of consumption has to be reduced by a factor of 5 in 2050. The climate targets on consumption level allow discussion of the feasibility of this climate target at product and consumption level. In most consumption categories products in line with this climate target are available. For animal food and air travel, reaching the GHG intensity targets with product modifications alone will be challenging and therefore structural changes in consumption patterns might be needed. The concept opens up possibilities for further research on potential solutions on the consumption and product level to global climate mitigation.

Impact of GnRH agonist triggering and intensive luteal steroid support on live-birth rates and ovarian hyperstimulation syndrome: a retrospective cohort study

PubMed Central

2013-01-01

Background Conventional luteal support packages are inadequate to facilitate a fresh transfer after GnRH agonist (GnRHa) trigger in patients at high risk of developing ovarian hyperstimulation syndrome (OHSS). By providing intensive luteal-phase support with oestradiol and progesterone satisfactory implantation rates can be sustained. The objective of this study was to assess the live-birth rate and incidence of OHSS after GnRHa trigger and intensive luteal steroid support compared to traditional hCG trigger and conventional luteal support in OHSS high risk Asian patients. Methods We conducted a retrospective cohort study of 363 women exposed to GnRHa triggering with intensive luteal support compared with 257 women exposed to conventional hCG triggering. Women at risk of OHSS were defined by ovarian response ≥15 follicles ≥12 mm on the day of the trigger. Results Live-birth rates were similar in both groups GnRHa vs hCG; 29.8% vs 29.2% (p = 0.69). One late onset severe OHSS case was observed in the GnRHa trigger group (0.3%) compared to 18 cases (7%) after hCG trigger. Conclusions GnRHa trigger combined with intensive luteal steroid support in this group of OHSS high risk Asian patients can facilitate fresh embryo transfer, however, in contrast to previous reports the occurrence of late onset OHSS was not completely eliminated. PMID:24369069

Applying the ICF to identify requirements for students with Asperger syndrome in higher education.

PubMed

Adolfsson, Margareta; Simmeborn Fleischer, Ann

2015-06-01

Higher education requires more than academic skills and everyday student-life can be stressful. Students with Asperger syndrome (AS) may need support to manage their education due to difficulties in social functioning. As preparation for the development of a structured tool to guide student and coordinator dialogues at Swedish universities, this study aimed to identify ICF categories that reflect requirements in everyday student-life for students with AS. Using descriptive qualitative approach, information in documents reflecting the perspectives of university students, international classifications, user/health organisations and education authorities were linked to ICF codes. In total, 114 ICF categories were identified, most of which related to learning, tasks and demands, communication and interactions. Students with AS need varying accommodations to be successful in higher education. In the future, ICF-based code sets, including demands on student roles, can be used as checklists to describe functioning and needs for support.

Intensive Intervention in Mathematics

ERIC Educational Resources Information Center

Powell, Sarah R.; Fuchs, Lynn S.

2015-01-01

Students who demonstrate persistent mathematics difficulties and whose performance is severely below grade level require "intensive intervention". Intensive intervention is an individualized approach to instruction that is more demanding and concentrated than Tier 2 intervention efforts. We present the elements of intensive intervention…

Malignant vasovagal syndrome in two patients with Wolff-Parkinson-White syndrome

PubMed Central

Gandhi, N M; Bennett, D H

2004-01-01

The presence of Wolff-Parkinson-White (WPW) syndrome in patients presenting with syncope suggests that tachyarrhythmia may be the cause. However, the symptoms require careful evaluation. Two young patients presented with syncope and were found to have WPW syndrome on their ECG. In both patients symptoms were suggestive of vasovagal syncope. During tilt testing, both the patients developed their typical symptoms with a fall in blood pressure and heart rate confirming the diagnosis of malignant vasovagal syndrome. PMID:15020537

Impaired Tissue Oxygenation in Metabolic Syndrome Requires Increased Microvascular Perfusion Heterogeneity

PubMed Central

McClatchey, P. Mason; Wu, Fan; Olfert, I. Mark; Ellis, Christopher G.; Goldman, Daniel; Reusch, Jane E. B.

2018-01-01

Metabolic syndrome (MS) in obese Zucker rats (OZR) is associated with impaired skeletal muscle performance and blunted hyperemia. Studies suggest that reduced O2 diffusion capacity is required to explain compromised muscle performance and that heterogeneous microvascular perfusion distribution is critical. We modeled tissue oxygenation during muscle contraction in control and OZR skeletal muscle using physiologically realistic relationships. Using a network model of Krogh cylinders with increasing perfusion asymmetry and increased plasma skimming, we predict increased perfusion heterogeneity and decreased muscle oxygenation in OZR, with partial recovery following therapy. Notably, increasing O2 delivery had less impact on VO2 than equivalent decreases in O2 delivery, providing a mechanism for previous empirical work associating perfusion heterogeneity and impaired O2 extraction. We demonstrate that increased skeletal muscle perfusion asymmetry is a defining characteristic of MS and must be considered to effectively model and understand blood-tissue O2 exchange in this model of human disease. PMID:28168652

[Case of posterior reversible encephalopathy syndrome caused by Fisher syndrome].

PubMed

Yokoi, Katsunori; Ando, Tetsuo; Kawakami, Osamu

2018-01-26

This report presents a case of a 71-year-old woman with Fisher syndrome who had posterior reversible encephalopathy syndrome (PRES) before the initiation of intravenous immunoglobulin (IVIg) treatment. She had symptoms of common cold 2 weeks before the onset of PRES. On the day of the onset, she began to stagger while walking. On day 2, she developed hypertension, vision impairment, and limb weakness and was admitted to the hospital. On day 3, she was provided steroid pulse therapy. On day 4, she developed convulsions and right imperfection single paralysis and was transferred to the our hospital. During the transfer, the patient was conscious. Her blood pressure was high at 198/107 mmHg. She had mild weakness in her limbs and face, light perception in both eyes, dilation of both pupils, total external ophthalmoplegia, no tendon reflexes, and limb and trunk ataxia. We diagnosed PRES because of the high signal intensities observed on T 2 -weighted MRI on both sides of the parietal and occipital lobes. We also diagnosed Fisher syndrome because of a positive anti-GQ1b immunoglobulin G antibody test and albuminocytologic dissociation in the cerebrospinal fluid. PRES showed prompt improvement with antihypertensive therapy, whereas Fisher syndrome slowly improved over a course of 2 months. This case is the first report of PRES without IVIg suggesting that Fisher syndrome induces hypertension and causes PRES.

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.

PubMed

Daoud, Hussein; Luco, Stephanie M; Li, Rui; Bareke, Eric; Beaulieu, Chandree; Jarinova, Olga; Carson, Nancy; Nikkel, Sarah M; Graham, Gail E; Richer, Julie; Armour, Christine; Bulman, Dennis E; Chakraborty, Pranesh; Geraghty, Michael; Lines, Matthew A; Lacaze-Masmonteil, Thierry; Majewski, Jacek; Boycott, Kym M; Dyment, David A

2016-08-09

Rare diseases often present in the first days and weeks of life and may require complex management in the setting of a neonatal intensive care unit (NICU). Exhaustive consultations and traditional genetic or metabolic investigations are costly and often fail to arrive at a final diagnosis when no recognizable syndrome is suspected. For this pilot project, we assessed the feasibility of next-generation sequencing as a tool to improve the diagnosis of rare diseases in newborns in the NICU. We retrospectively identified and prospectively recruited newborns and infants admitted to the NICU of the Children's Hospital of Eastern Ontario and the Ottawa Hospital, General Campus, who had been referred to the medical genetics or metabolics inpatient consult service and had features suggesting an underlying genetic or metabolic condition. DNA from the newborns and parents was enriched for a panel of clinically relevant genes and sequenced on a MiSeq sequencing platform (Illumina Inc.). The data were interpreted with a standard informatics pipeline and reported to care providers, who assessed the importance of genotype-phenotype correlations. Of 20 newborns studied, 8 received a diagnosis on the basis of next-generation sequencing (diagnostic rate 40%). The diagnoses were renal tubular dysgenesis, SCN1A-related encephalopathy syndrome, myotubular myopathy, FTO deficiency syndrome, cranioectodermal dysplasia, congenital myasthenic syndrome, autosomal dominant intellectual disability syndrome type 7 and Denys-Drash syndrome. This pilot study highlighted the potential of next-generation sequencing to deliver molecular diagnoses rapidly with a high success rate. With broader use, this approach has the potential to alter health care delivery in the NICU. © 2016 Canadian Medical Association or its licensors.

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

PubMed Central

Daoud, Hussein; Luco, Stephanie M.; Li, Rui; Bareke, Eric; Beaulieu, Chandree; Jarinova, Olga; Carson, Nancy; Nikkel, Sarah M.; Graham, Gail E.; Richer, Julie; Armour, Christine; Bulman, Dennis E.; Chakraborty, Pranesh; Geraghty, Michael; Lines, Matthew A.; Lacaze-Masmonteil, Thierry; Majewski, Jacek; Boycott, Kym M.; Dyment, David A.

2016-01-01

Background: Rare diseases often present in the first days and weeks of life and may require complex management in the setting of a neonatal intensive care unit (NICU). Exhaustive consultations and traditional genetic or metabolic investigations are costly and often fail to arrive at a final diagnosis when no recognizable syndrome is suspected. For this pilot project, we assessed the feasibility of next-generation sequencing as a tool to improve the diagnosis of rare diseases in newborns in the NICU. Methods: We retrospectively identified and prospectively recruited newborns and infants admitted to the NICU of the Children’s Hospital of Eastern Ontario and the Ottawa Hospital, General Campus, who had been referred to the medical genetics or metabolics inpatient consult service and had features suggesting an underlying genetic or metabolic condition. DNA from the newborns and parents was enriched for a panel of clinically relevant genes and sequenced on a MiSeq sequencing platform (Illumina Inc.). The data were interpreted with a standard informatics pipeline and reported to care providers, who assessed the importance of genotype–phenotype correlations. Results: Of 20 newborns studied, 8 received a diagnosis on the basis of next-generation sequencing (diagnostic rate 40%). The diagnoses were renal tubular dysgenesis, SCN1A-related encephalopathy syndrome, myotubular myopathy, FTO deficiency syndrome, cranioectodermal dysplasia, congenital myasthenic syndrome, autosomal dominant intellectual disability syndrome type 7 and Denys–Drash syndrome. Interpretation: This pilot study highlighted the potential of next-generation sequencing to deliver molecular diagnoses rapidly with a high success rate. With broader use, this approach has the potential to alter health care delivery in the NICU. PMID:27241786

Case Study of High-Dose Ketamine for Treatment of Complex Regional Pain Syndrome in the Pediatric Intensive Care Unit.

PubMed

Pasek, Tracy Ann; Crowley, Kelli; Campese, Catherine; Lauer, Rachel; Yang, Charles

2017-06-01

Complex regional pain syndrome (CRPS) is a life-altering and debilitating chronic pain condition. The authors are presenting a case study of a female who received high-dose ketamine for the management of her CRPS. The innovative treatment lies not only within the pharmacologic management of her pain, but also in the fact that she was the first patient to be admitted to our pediatric intensive care unit solely for pain control. The primary component of the pharmacotherapy treatment strategy plan was escalating-dose ketamine infusion via patient-controlled-analgesia approved by the pharmacy and therapeutics committee guided therapy for this patient. The expertise of advanced practice nurses blended exquisitely to ensure patient and family-centered care and the coordination of care across the illness trajectory. The patient experienced positive outcomes. Copyright © 2017 Elsevier Inc. All rights reserved.

Resource Utilization and Safety of Outpatient Management Following Intensive Induction or Salvage Chemotherapy for Acute Myeloid Leukemia or Myelodysplastic Syndrome: A Nonrandomized Clinical Comparative Analysis.

PubMed

Vaughn, Jennifer E; Othus, Megan; Powell, Morgan A; Gardner, Kelda M; Rizzuto, Donelle L; Hendrie, Paul C; Becker, Pamela S; Pottinger, Paul S; Estey, Elihu H; Walter, Roland B

2015-11-01

Adults with acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS) typically remain hospitalized after induction or salvage chemotherapy until blood cell count recovery, with resulting prolonged inpatient stays being a primary driver of health care costs. Pilot studies suggest that outpatient management following chemotherapy might be safe and could reduce costs for these patients. To compare safety, resource utilization, infections, and costs between adults discharged early following AML or MDS induction or salvage chemotherapy and inpatient controls. Nonrandomized, phase 2, single-center study conducted at the University of Washington Medical Center. Over a 43-month period (January 1, 2011, through July 31, 2014), 178 adults receiving intensive AML or MDS chemotherapy were enrolled. After completion of chemotherapy, 107 patients met predesignated medical and logistical criteria for early discharge, while 29 met medical criteria only and served as inpatient controls. Early-discharge patients were released from the hospital at the completion of chemotherapy, and supportive care was provided in the outpatient setting until blood cell count recovery (median, 21 days; range, 2-45 days). Controls received inpatient supportive care (median, 16 days; range, 3-42 days). We analyzed differences in early mortality, resource utilization including intensive care unit (ICU) days, transfusions per study day, and use of intravenous (IV) antibiotics per study day), numbers of infections, and total and inpatient charges per study day among early-discharge patients vs controls. Four of the 107 early-discharge patients and none of the 29 control patients died within 30 days of enrollment (P=.58). Nine early-discharge patients (8%) but no controls required ICU-level care (P=.20). No differences were noted in the median daily number of transfused red blood cell units (0.27 vs 0.29; P=.55) or number of transfused platelet units (0.26 vs 0.29; P=.31). Early-discharge patients

The cannabis withdrawal syndrome: current insights

PubMed Central

Bonnet, Udo; Preuss, Ulrich W

2017-01-01

The cannabis withdrawal syndrome (CWS) is a criterion of cannabis use disorders (CUDs) (Diagnostic and Statistical Manual of Mental Disorders – Fifth Edition) and cannabis dependence (International Classification of Diseases [ICD]-10). Several lines of evidence from animal and human studies indicate that cessation from long-term and regular cannabis use precipitates a specific withdrawal syndrome with mainly mood and behavioral symptoms of light to moderate intensity, which can usually be treated in an outpatient setting. Regular cannabis intake is related to a desensitization and downregulation of human brain cannabinoid 1 (CB1) receptors. This starts to reverse within the first 2 days of abstinence and the receptors return to normal functioning within 4 weeks of abstinence, which could constitute a neurobiological time frame for the duration of CWS, not taking into account cellular and synaptic long-term neuroplasticity elicited by long-term cannabis use before cessation, for example, being possibly responsible for cannabis craving. The CWS severity is dependent on the amount of cannabis used pre-cessation, gender, and heritable and several environmental factors. Therefore, naturalistic severity of CWS highly varies. Women reported a stronger CWS than men including physical symptoms, such as nausea and stomach pain. Comorbidity with mental or somatic disorders, severe CUD, and low social functioning may require an inpatient treatment (preferably qualified detox) and post-acute rehabilitation. There are promising results with gabapentin and delta-9-tetrahydrocannabinol analogs in the treatment of CWS. Mirtazapine can be beneficial to treat CWS insomnia. According to small studies, venlafaxine can worsen the CWS, whereas other antidepressants, atomoxetine, lithium, buspirone, and divalproex had no relevant effect. Certainly, further research is required with respect to the impact of the CWS treatment setting on long-term CUD prognosis and with respect to

Streptococcal Toxic Shock syndrome.

PubMed

Krishna, Vidya; Sankaranarayan, Shuba; Sivaraman, Rajakumar Padur; Prabaharan, Krithika

2014-09-01

Streptococcal Toxic Shock syndrome (STSS) is a serious complication caused by exotoxins of Group A Streptococcus (GAS). It presents with fulminant shock and rash, is rapidly progressive with Multi-Organ Dysfunction Syndrome (MODS) and requires aggressive therapy with fluids, antibiotics and source control.

Bipolar disorder and Premenstrual Syndrome or Premenstrual Dysphoric Disorder comorbidity: a systematic review.

PubMed

Cirillo, Patricia Carvalho; Passos, Roberta Benitez Freitas; Bevilaqua, Mario Cesar do Nascimento; López, Jose Ramón Rodriguez Arras; Nardi, Antônio Egidio

2012-12-01

This article aims to review the comorbidity of premenstrual syndrome (PMS) or premenstrual dysphoric disorder (PMDD) and bipolar disorder (BD), identify variables requiring further investigation and to remind physicians that special care is required for diagnosis and therapy. A systematic review of articles published from 1987 to February 2012 was conducted in the Medline database with the following terms: (premenstrual syndrome OR premenstrual dysphoric disorder OR premenstrual) AND (bipolar OR mania OR manic). Seventeen articles were analyzed. PMS and PMDD were most often comorbid among BD-II patients and vice versa. Moreover, patients with PMS or PMDD also have an increased risk of having BD-I. In addition, bipolar women susceptible to hormonal changes exhibit more severe symptoms, more frequent relapses and a worse therapeutic response. Future investigations should attempt to stabilize hormonal levels through the continuous use of contraceptives to target a reduction in symptom severity. In addition, psychiatrists should note menstrual period dates and compare symptom intensity between the luteal and follicular phases. Finally, PMS and PMDD patients should be studied separately.

Specific Features of Dumping Syndrome after Various Types of Gastrectomy as Assessed by a Newly Developed Integrated Questionnaire, the PGSAS-45.

PubMed

Tanizawa, Yutaka; Tanabe, Kazuaki; Kawahira, Hiroshi; Fujita, Junya; Takiguchi, Nobuhiro; Takahashi, Masazumi; Ito, Yuichi; Mitsumori, Norio; Namikawa, Tsutomu; Oshio, Atsushi; Nakada, Koji

2016-01-01

Dumping syndrome is a well-known adverse outcome after gastrectomy, but the precise clinical features have not been described. The aim of this study was to examine global aspects of dumping syndrome and to explore factors affecting the intensity of dumping syndrome in a large cohort using a newly developed integrated questionnaire, the Post-Gastrectomy Syndrome Assessment Scale (PGSAS)-45. Eligible questionnaires retrieved from 2,368 patients after 6 types of gastrectomy were analyzed. The incidence, intensity and number of symptoms of early general, early abdominal and late dumping syndrome were examined across various types of gastrectomy, and clinical factors affecting the intensity of each category of dumping syndrome were identified by multiple regression analysis. Dumping syndromes occurred most frequently and strongly in patients who underwent total gastrectomy with Roux-en-Y (TGRY), followed by proximal gastrectomy (PG), distal gastrectomy with Billroth-I, distal gastrectomy with Roux-en-Y, pylorus-preserving gastrectomy (PPG) and local resection (LR), in that order. Significant positive correlations among different categories of dumping syndromes were observed. TGRY, female sex, younger age, division of the celiac branch of the vagus nerve, PG and shorter postoperative period were independently related to worse dumping syndrome. Dumping syndromes were most common after TGRY and least common after PPG and LR among the various gastrectomy procedures. Type of gastrectomy and several clinical factors were related to the intensity of dumping syndrome. PGSAS-45 could offer a useful tool for evaluating dumping syndrome after gastrectomy. © 2015 S. Karger AG, Basel.

Eagle's Syndrome

PubMed Central

Pinheiro, Thaís Gonçalves; Soares, Vítor Yamashiro Rocha; Ferreira, Denise Bastos Lage; Raymundo, Igor Teixeira; Nascimento, Luiz Augusto; Oliveira, Carlos Augusto Costa Pires de

2013-01-01

Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT) of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical. PMID:25992033

Epidemiology of sepsis in pediatric intensive care units: first Colombian multicenter study.

PubMed

Jaramillo-Bustamante, Juan C; Marín-Agudelo, Alejandro; Fernández-Laverde, Mauricio; Bareño-Silva, José

2012-09-01

In 2002, the Surviving Sepsis Campaign pointed out the need to recognize sepsis as an important cause of death and high economic and social costs. There are few epidemiologic studies of this disease in pediatrics and none in Colombia. The objective of this study was to describe the sociodemographic and clinical characteristics of patients with sepsis who were admitted at participating pediatric intensive care units. Prospective study. A Web site, http://www.sepsisencolombia.com, was created, in which 19 pediatric intensive care units from the ten principal cities in the country reported epidemiologic data about patients with sepsis between March 1, 2009, and February 28, 2010. None. There were 1,051 patients. Of these, 55% were male. Fifty-six percent came from urban areas. Fifty-six percent were <2 yrs of age. Seventy-six percent belonged to a low socioeconomic strata and 44% received government-subsidized health insurance. Forty-eight percent of patients had septic shock, 25% severe sepsis, and 27% sepsis. Forty-three percent were diagnosed with multiple organ dysfunction syndrome. In 54%, the infection was of respiratory origin followed by the abdomen as the site of origin in 18% of the patients. In almost 50%, the etiological agent was detected with Gram-negative bacteria being the most frequent and of highest mortality. Fifty percent had some type of relevant pathologic antecedent. Eleven percent had an invasive device on admission. Sixty-eight percent of the patients required mechanical ventilation. Mortality rate was 18%. The most important risk factors for mortality were age under 2 yrs, presence of shock or multiple organ dysfunction syndrome, and presence of Gram-negative bacteria. Sepsis is common in Colombian pediatric intensive care units. Clear risk factors for getting sick and dying from this disease were identified. Mortality resulting from this disease is considerable for a developing society like ours.

Epidemiology, Patterns of Care, and Mortality for Patients With Acute Respiratory Distress Syndrome in Intensive Care Units in 50 Countries.

PubMed

Bellani, Giacomo; Laffey, John G; Pham, Tài; Fan, Eddy; Brochard, Laurent; Esteban, Andres; Gattinoni, Luciano; van Haren, Frank; Larsson, Anders; McAuley, Daniel F; Ranieri, Marco; Rubenfeld, Gordon; Thompson, B Taylor; Wrigge, Hermann; Slutsky, Arthur S; Pesenti, Antonio

2016-02-23

Limited information exists about the epidemiology, recognition, management, and outcomes of patients with the acute respiratory distress syndrome (ARDS). To evaluate intensive care unit (ICU) incidence and outcome of ARDS and to assess clinician recognition, ventilation management, and use of adjuncts-for example prone positioning-in routine clinical practice for patients fulfilling the ARDS Berlin Definition. The Large Observational Study to Understand the Global Impact of Severe Acute Respiratory Failure (LUNG SAFE) was an international, multicenter, prospective cohort study of patients undergoing invasive or noninvasive ventilation, conducted during 4 consecutive weeks in the winter of 2014 in a convenience sample of 459 ICUs from 50 countries across 5 continents. Acute respiratory distress syndrome. The primary outcome was ICU incidence of ARDS. Secondary outcomes included assessment of clinician recognition of ARDS, the application of ventilatory management, the use of adjunctive interventions in routine clinical practice, and clinical outcomes from ARDS. Of 29,144 patients admitted to participating ICUs, 3022 (10.4%) fulfilled ARDS criteria. Of these, 2377 patients developed ARDS in the first 48 hours and whose respiratory failure was managed with invasive mechanical ventilation. The period prevalence of mild ARDS was 30.0% (95% CI, 28.2%-31.9%); of moderate ARDS, 46.6% (95% CI, 44.5%-48.6%); and of severe ARDS, 23.4% (95% CI, 21.7%-25.2%). ARDS represented 0.42 cases per ICU bed over 4 weeks and represented 10.4% (95% CI, 10.0%-10.7%) of ICU admissions and 23.4% of patients requiring mechanical ventilation. Clinical recognition of ARDS ranged from 51.3% (95% CI, 47.5%-55.0%) in mild to 78.5% (95% CI, 74.8%-81.8%) in severe ARDS. Less than two-thirds of patients with ARDS received a tidal volume 8 of mL/kg or less of predicted body weight. Plateau pressure was measured in 40.1% (95% CI, 38.2-42.1), whereas 82.6% (95% CI, 81.0%-84.1%) received a positive end

Improving the Patient Experience by Implementing an ICU Diary for Those at Risk of Post-intensive Care Syndrome.

PubMed

Blair, K Taylor A; Eccleston, Sarah D; Binder, Hannah M; McCarthy, Mary S

2017-03-01

The critical care literature in the US has recently brought attention to the impact an ICU experience can have long after the patient survives critical illness, particularly if delirium was present. Current recommendations to mitigate post-intensive care syndrome (PICS) are embedded in patient and family-centered care and aim to promote family presence in the ICU, provide support for decision-making, and enhance communication with the health-care team. Evidence-based interventions are few in number but include use of an ICU diary to minimize the psychological and emotional sequelae affecting patients and family members in the months following the ICU stay. In this paper we describe our efforts to implement an ICU diary and solicit feedback on its role in fostering teamwork and communication between patients, family members, and ICU staff. Next steps will involve a PICS follow-up clinic where trained staff will coordinate specialty referrals and perform long-term monitoring of mental health and other quality of life outcomes.

Infants Born with Down Syndrome: Burden of Disease in the Early Neonatal Period.

PubMed

Martin, Therese; Smith, Aisling; Breatnach, Colm R; Kent, Etaoin; Shanahan, Ita; Boyle, Michael; Levy, Phillip T; Franklin, Orla; El-Khuffash, Afif

2018-02-01

To evaluate the incidence of direct admission of infants with Down syndrome to the postnatal ward (well newborn nursery) vs the neonatal intensive care unit (NICU), and to describe the incidence of congenital heart disease (CHD) and pulmonary hypertension (PH). This retrospective cohort study of Down syndrome used the maternal/infant database (2011-2016) at the Rotunda Hospital in Dublin, Ireland. Admission location, early neonatal morbidities, outcomes, and duration of stay were evaluated and regression analyses were conducted to identify risk factors associated with morbidity and mortality. Of the 121 infants with Down syndrome, 54 (45%) were initially admitted to the postnatal ward, but 38 (70%) were later admitted to the NICU. Low oxygen saturation profile was the most common cause for the initial and subsequent admission to the NICU. Sixty-six percent of the infants (80/121) had CHD, 34% (41/121) had PH, and 6% died. Risk factors independently associated with primary NICU admission included antenatal diagnosis of Down syndrome, presence of CHD, PH, and the need for ventilation. Infants with Down syndrome initially admitted to the postnatal ward have a high likelihood of requiring NICU admission. Overall, high rates of neonatal morbidity were noted, including rates of PH that were higher than previously reported. Proper screening of all infants with Down syndrome for CHD and PH is recommended to facilitate timely diagnoses and potentially shorten the duration of the hospital stay. Copyright © 2017 Elsevier Inc. All rights reserved.

[Main principles of rapid diagnosis and intensive care in emergency states: their realization in expert systems].

PubMed

Zislin, B D; Bazhenov, A M; Belkin, A A; Bazylev, S V; Badaev, F I; Trifonov, Iu O

1997-01-01

A retrospective analysis of 543 case histories over 1980-1990 in the town of Yekaterinburg and analysis of published data permitted the authors to single out the signs characterizing the most frequent syndromes requiring urgent intensive care. By either diagnostic value, these signs are distributed into main, accessory, and ruling out. An expert system has been created, making use of the productive-Freimont's approach to representing information on the basis of blurred multiplicities and ambiguous logics. The diagnosis was made by stages: first the main signs were analyzed, determining the severity of patient's status, then (after first aid was rendered) accessory and ruling out signs, which help make the diagnosis more precise. The system was tried in 231 patients, 102 of these with acute respiratory failure, 63 with acute hemodynamic insufficiency, and 66 with acute cerebral insufficiency. Primary diagnosis of the underlying syndrome was correct in 87-89% of cases, of the concomitant syndrome in 92-97%. Repeated evaluations (in 1-3 and 24 h) taking account of the time course of the symptoms and of the results of unsophisticated instrumental examinations increased the share of correct diagnoses to 92-96%.

Pseudo-acute myocardial infarction due to transient apical ventricular dysfunction syndrome (Takotsubo syndrome).

PubMed

Maciel, Bruno Araújo; Cidrão, Alan Alves de Lima; Sousa, Italo Bruno Dos Santos; Ferreira, José Adailson da Silva; Messias Neto, Valdevino Pedro

2013-03-01

Takotsubo syndrome is characterized by predominantly medial-apical transient left ventricular dysfunction, which is typically triggered by physical or emotional stress. The present article reports the case of a 61-year-old female patient presenting with dizziness, excessive sweating, and sudden state of ill feeling following an episode involving intense emotional stress. The physical examination and electrocardiogram were normal upon admission, but the troponin I and creatine kinase-MB concentrations were increased. Acute myocardial infarction without ST segment elevation was suspected, and coronary angiography was immediately performed, which showed severe diffuse left ventricular hypokinesia, medial-apical systolic ballooning, and a lack of significant coronary injury. The patient was referred to the intensive care unit and was successfully treated with supportive therapy. As this case shows, Takotsubo syndrome might simulate the clinical manifestations of acute myocardial infarction, and coronary angiography is necessary to distinguish between both myocardial infarction and myocardial infarction in the acute stage. The present patient progressed with spontaneous resolution of the ventricular dysfunction without any sequelae.

Pseudo-acute myocardial infarction due to transient apical ventricular dysfunction syndrome (Takotsubo syndrome)

PubMed Central

Maciel, Bruno Araújo; Cidrão, Alan Alves de Lima; Sousa, Ítalo Bruno dos Santos; Ferreira, José Adailson da Silva; Messias Neto, Valdevino Pedro

2013-01-01

Takotsubo syndrome is characterized by predominantly medial-apical transient left ventricular dysfunction, which is typically triggered by physical or emotional stress. The present article reports the case of a 61-year-old female patient presenting with dizziness, excessive sweating, and sudden state of ill feeling following an episode involving intense emotional stress. The physical examination and electrocardiogram were normal upon admission, but the troponin I and creatine kinase-MB concentrations were increased. Acute myocardial infarction without ST segment elevation was suspected, and coronary angiography was immediately performed, which showed severe diffuse left ventricular hypokinesia, medial-apical systolic ballooning, and a lack of significant coronary injury. The patient was referred to the intensive care unit and was successfully treated with supportive therapy. As this case shows, Takotsubo syndrome might simulate the clinical manifestations of acute myocardial infarction, and coronary angiography is necessary to distinguish between both myocardial infarction and myocardial infarction in the acute stage. The present patient progressed with spontaneous resolution of the ventricular dysfunction without any sequelae. PMID:23887762

[The frequency of burnout syndrome in physicians in Mostar University Hospital].

PubMed

Vukojević, Mladenka; Brzica, Jerko; Petrov, Bozo

2014-01-01

To determine the prevalence of burnout syndrome in clinical physicians in Mostar University Hospital. The study included 94 subjects who were familiar with the purpose of research and were classified into three specialty groups. The first consisted of doctors in the Department of Internal Medicine and Department of Pediatrics, the second group of doctors in the Department of Surgery and Department of Gynecology and Obstetrics, while the third group (CL-specialization) were doctors of the Clinic of Dermatology and Venereal Diseases, Department of Otorhinolaryngology and Department of Ophthalmology. All subjects were handed anonymous questionnaire to assess burnout. The questionnaire consisted of 18 statements with numbers from 1 to 3, 1 meaning rarely, 2 often and 3 always The task was to circle an appropriate number depending on how the statement described them. Along with these statements the questionnaire contained information on the place of employment, years of work experience and gender. In the studied sample of respondents most (n = 81, 86.2%) didn't have symptoms of burnout syndrome. As for the people who had these symptoms, they all belonged to the moderate intensity (chi2 test = 49.19, df = 1, P < 0.001), while none had severe symptoms of this syndrome. The intensity of the symptoms in the subjects was not significantly different between males and females (chi2 test = 0.85, df = 1, P = 0.355). Also, the intensity of symptoms in the subjects did not differ significantly depending on the number of working years (exact test, P = 0.888). After the formation of three groups from seven departments involved in the research of so far perceived intensity of stress, no significant differences in the intensity of the symptoms of burnout were found between them (exact test, P = 0.536). Regarding the individual items in the overall survey sample, in five items high intensity symptoms of burnout were most often circled. The most frequently reported high intensity of the

Afebrile pneumonia (whooping cough) syndrome in infants at Hospital Universitario del Valle, Cali, 2001-2007

PubMed Central

Villegas, Dolly; Echandía-Villegas, Connie Alejandra

2012-01-01

Introduction: Afebrile pneumonia syndrome in infants, also called infant pneumonitis, pneumonia caused by atypical pathogens or whooping cough syndrome is a major cause of severe lower respiratory infection in young infants, both in developing countries and in developed countries. Objective: To describe children with afebrile pneumonia syndrome. Methods: Through a cross-sectional study, we reviewed the medical records of children diagnosed with afebrile pneumonia treated at Hospital Universitario del Valle, a reference center in southwestern Colombia, between June 2001 and December 2007. We obtained data on maternal age and origin, prenatal care, the childs birth, breastfeeding, vaccination status, symptoms, signs, diagnosis, treatment, and complications. Results: We evaluated 101 children with this entity, noting a stationary presentation: June-August and November- December. A total of 73% of the children were under 4 months of age; the most common symptoms were: cyanotic and spasmodic cough (100%), respiratory distress (70%), and unquantified fever (68%). The most common findings: rales (crackles) (50%), wheezing and expiratory stridor (37%); 66% were classified as mild and of the remaining 33%, half of them required attention in the intensive care unit. In all, there was clinical diagnosis of afebrile pneumonia syndrome in infants, but no etiologic diagnosis was made and despite this, 94% of the children received macrolides. Conclusions: These data support the hypothesis that most of these patients acquired the disease by airway, possibly caused by viral infection and did not require the indiscriminate use of macrolides. PMID:24893051

Afebrile pneumonia (whooping cough) syndrome in infants at Hospital Universitario del Valle, Cali, 2001-2007.

PubMed

Villegas, Dolly; Echandía-Villegas, Connie Alejandra; Echandía, Carlos Armando

2012-04-01

Afebrile pneumonia syndrome in infants, also called infant pneumonitis, pneumonia caused by atypical pathogens or whooping cough syndrome is a major cause of severe lower respiratory infection in young infants, both in developing countries and in developed countries. To describe children with afebrile pneumonia syndrome. Through a cross-sectional study, we reviewed the medical records of children diagnosed with afebrile pneumonia treated at Hospital Universitario del Valle, a reference center in southwestern Colombia, between June 2001 and December 2007. We obtained data on maternal age and origin, prenatal care, the childs birth, breastfeeding, vaccination status, symptoms, signs, diagnosis, treatment, and complications. We evaluated 101 children with this entity, noting a stationary presentation: June-August and November- December. A total of 73% of the children were under 4 months of age; the most common symptoms were: cyanotic and spasmodic cough (100%), respiratory distress (70%), and unquantified fever (68%). The most common findings: rales (crackles) (50%), wheezing and expiratory stridor (37%); 66% were classified as mild and of the remaining 33%, half of them required attention in the intensive care unit. In all, there was clinical diagnosis of afebrile pneumonia syndrome in infants, but no etiologic diagnosis was made and despite this, 94% of the children received macrolides. These data support the hypothesis that most of these patients acquired the disease by airway, possibly caused by viral infection and did not require the indiscriminate use of macrolides.

[Symptoms of anxiety and depression in atopic eczema/dermatitis syndrome].

PubMed

Brzoza, Zenon; Badura-Brzoza, Karina; Nowakowski, Marek; Matysiakiewicz, Jerzy; Rogala, Barbara; Hese, Robert T

2005-01-01

The presence of chronic disease is a risk factor for the development of mood disturbances and panic disorders. They can influence the course of disease and effectiveness of therapy. Depression may be the cause of making light doctor's advice. Anxious patients often aggravate symptoms of the disease. To study symptoms of anxiety and depression in patients suffering from atopic eczema/dermatitis syndrome (ZAZS). Material. We studied 38 patients suffering from adequately controlled moderate ZAZS and 62 volunteers in the control group. Mental status of subjects was assessed by means of State and Trait Anxiety Inventory (STAI) and Beck Depression Inventory (BDI) questionnaires. ZAZS patients demonstrated higher intensity of anxiety (as a trait and as a state) than healthy subjects. Intensity and prevalence of depression in the atopic eczema/ dermatitis syndrome group was higher than in the control group. Patients suffering from atopic/eczema dermatitis syndrome are pre-disposed to anxiety and depression manifestation. Even adequately controlled symptoms of atopic/eczema dermatitis syndrome may be the cause of those disturbances' occurrence.

Transient cardiac effects in a child with acute cholinergic syndrome due to rivastigmine poisoning.

PubMed

Raucci, Umberto; Vanacore, Nicola; Cecchetti, Corrado; Russo, Mario Salvatore; Rossi, Rossella; Pirozzi, Nicola

2014-07-01

We report a case of rivastigmine poisoning resulting in a full cholinergic syndrome with nicotinic, muscarinic, and central effects requiring supportive or intensive care in a pediatric patient. A 3-year-old girl was admitted to the Emergency Department suspected of having ingested one or two pills of rivastigmine. The child was hyporeactive, with symptoms of altered mental status, sialorrhea, sweating, and diarrhea. Subsequently, she started showing signs of respiratory failure, severe tracheobronchial involvement, and gastric and abdominal distension. An electrocardiogram recorded frequent monomorphic ventricular ectopic beats with bigeminy and trigeminy. Long-term follow-up showed a transient dysrhythmia. Poisoning with rivastigmine can be a life-threatening condition. Timely identification and appropriate management of the toxic effects of this drug are essential and often life-saving. This is particularly true in cases of cholinergic syndrome subsequent to drug poisoning. Patients with cholinergic syndrome should also be assessed for possible cardiac complications such as dysrhythmias. The main factors predisposing to the development of such complications are autonomic disorder, hypoxemia, acidosis, and electrolyte imbalance. Copyright © 2014 Elsevier Inc. All rights reserved.

Effects of Exercise Intervention on Preventing Letrozole-Exposed Rats From Polycystic Ovary Syndrome.

PubMed

Cao, Si-Fan; Hu, Wen-Long; Wu, Min-Min; Jiang, Li-Yan

2017-03-01

Polycystic ovary syndrome (PCOS) is a prevalent endocrinological disorder in reproductive-age women and is often associated with a metabolic syndrome. To investigate whether exercise intervention promotes PCOS prevention, a rat model was used. Polycystic ovary syndrome was induced by letrozole administration, and animals presented with obesity, sex hormone disorder, no ovulation, large cystic follicles, and increasing fasting insulin (FINS) and leptin levels. The intervention was set at 3 different intensities of swimming exercise: low (0.5 h/d), moderate (1 h/d), and high (2 h/d), and compared with a PCOS model group (letrozole administration without exercise intervention) and a control group. The exercise intervention in the low-intensity group did not produce changes in obesity, testosterone, progesterone (P), and follicle-stimulating hormone (FSH) levels. Moderate-intensity exercise reduced body weight, retained ovulation, and P levels were increased but remained lower than those in the control group. The FSH levels were significantly higher, and FINS and leptin levels were lower than in the model group ( P < 0.05) but not in the control group. The high-intensity group demonstrated the greatest effect of PCOS prevention. Testosterone, luteinizing hormone, FINS, and leptin levels were significantly lower in the high-intensity group, and FSH and P levels were higher compared with the model group. These results suggest that high-intensity exercise intervention can effectively prevent PCOS development.

12 min/week of high-intensity interval training reduces aortic reservoir pressure in individuals with metabolic syndrome: a randomized trial.

PubMed

Ramos, Joyce S; Dalleck, Lance C; Ramos, Maximiano V; Borrani, Fabio; Roberts, Llion; Gomersall, Sjaan; Beetham, Kassia S; Dias, Katrin A; Keating, Shelley E; Fassett, Robert G; Sharman, James E; Coombes, Jeff S

2016-10-01

Decreased aortic reservoir function leads to a rise in aortic reservoir pressure that is an independent predictor of cardiovascular events. Although there is evidence that high-intensity interval training (HIIT) would be useful to improve aortic reservoir pressure, the optimal dose of high-intensity exercise to improve aortic reservoir function has yet to be investigated. Therefore, this study compared the effect of different volumes of HIIT and moderate-intensity continuous training (MICT) on aortic reservoir pressure in participants with the metabolic syndrome (MetS). Fifty individuals with MetS were randomized into one of the following 16-week training programs: MICT [n = 17, 30 min at 60-70% peak heart rate (HRpeak), five times/week]; 4 × 4-min high-intensity interval training (4HIIT) (n = 15, 4 × 4 min bouts at 85-95% HRpeak, interspersed with 3 min of active recovery at 50-70% HRpeak, three times/week); and 1 × 4-min high-intensity interval training (1HIIT) (n = 18, 1 × 4 min bout at 85-95% HRpeak, three times/week). Aortic reservoir pressure was calculated from radial applanation tonometry. Although not statistically significant, there was a trend for a small-to-medium group × time interaction effect on aortic reservoir pressure, indicating a positive adaptation following 1HIIT compared with 4HIIT and MICT [F (2,46) = 2.9, P = 0.07, η = 0.06]. This is supported by our within-group analysis wherein only 1HIIT significantly decreased aortic reservoir pressure from pre to postintervention (pre-post: 1HIIT 33 ± 16 to 31 ± 13, P = 0.03; MICT 29 ± 9-28 ± 8, P = 0.78; 4HIIT 28 ± 10-30 ± 9 mmHg, P = 0.10). Three sessions of 4 min of high-intensity exercise per week (12 min/week) was sufficient to improve aortic reservoir pressure, and thus may be a time-efficient exercise modality for reducing cardiovascular risk in individuals with MetS.

Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome

PubMed Central

2016-01-01

Key points Adults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors. The prevalence of OSAHS in adults with Down syndrome is estimated at 35–42%. This is up to ten-times higher than in the general adult population. Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surveillance in adults with Down syndrome. There is evidence that the use of continuous positive airway pressure (CPAP) therapy in adults with Down syndrome and comorbid OSAHS can lead to significant improvements in subjective sleepiness, behaviour and cognitive function, though further large-scale trials are required. Educational aims To discuss the relationship between the phenotypic features of Down syndrome and the risk factors for obstructive sleep apnoea/hypopnoea syndrome (OSAHS). To examine the prevalence of OSAHS in adults with Down syndrome. To review recent research into the effectiveness of treatment of OSAHS in adults with Down syndrome using continuous positive airway pressure (CPAP) therapy. Obstructive sleep apnoea/hypopnoea syndrome (OSAHS) is characterised by repeated cycles of upper airway obstruction during sleep, leading to diurnal symptoms. Individuals with Down syndrome are predisposed to OSAHS due to overlap between the Down syndrome phenotype and OSAHS risk factors. Recent large studies using subjective and objective measures estimate that OSAHS affects around 40% of adults with Down syndrome, in contrast to 2–4% of the general adult population. The “double-hit” of comorbid Down syndrome and OSAHS may accelerate cognitive decline in adults with Down syndrome. However, with the appropriate care and support, OSAHS can be treated effectively in this group using continuous positive airway pressure (CPAP) therapy, improving daytime function and behaviour

Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome.

PubMed

Hill, Elizabeth A

2016-12-01

Adults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors.The prevalence of OSAHS in adults with Down syndrome is estimated at 35-42%. This is up to ten-times higher than in the general adult population.Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surveillance in adults with Down syndrome.There is evidence that the use of continuous positive airway pressure (CPAP) therapy in adults with Down syndrome and comorbid OSAHS can lead to significant improvements in subjective sleepiness, behaviour and cognitive function, though further large-scale trials are required. To discuss the relationship between the phenotypic features of Down syndrome and the risk factors for obstructive sleep apnoea/hypopnoea syndrome (OSAHS).To examine the prevalence of OSAHS in adults with Down syndrome.To review recent research into the effectiveness of treatment of OSAHS in adults with Down syndrome using continuous positive airway pressure (CPAP) therapy. Obstructive sleep apnoea/hypopnoea syndrome (OSAHS) is characterised by repeated cycles of upper airway obstruction during sleep, leading to diurnal symptoms. Individuals with Down syndrome are predisposed to OSAHS due to overlap between the Down syndrome phenotype and OSAHS risk factors. Recent large studies using subjective and objective measures estimate that OSAHS affects around 40% of adults with Down syndrome, in contrast to 2-4% of the general adult population. The "double-hit" of comorbid Down syndrome and OSAHS may accelerate cognitive decline in adults with Down syndrome. However, with the appropriate care and support, OSAHS can be treated effectively in this group using continuous positive airway pressure (CPAP) therapy, improving daytime function and behaviour. Symptoms of OSAHS should be routinely

Laugier-Hunziker-Baran syndrome.

PubMed

Yago, Kaori; Tanaka, Yoichi; Asanami, Soichiro

2008-08-01

Laugier-Hunziker-Baran syndrome represents a rare acquired pigmentary disorder which has no relevance to internal disorders and has no familial association. There are few reports on histopathologic studies of this syndrome concerning Japanese individuals. The differential diagnosis of oral and pigmented lesions between Laugier-Hunziker-Baran syndrome and other disorders, Peutz-Jeghers syndrome in particular, requires our utmost consideration. Biopsy specimens of 2 cases were taken from pigmented maculae on the lower lips, buccal mucosa, tongue, and palate. Similar histopathologic findings were observed for all locations. The histopathologic examination showed that there was an accumulation of melanin in the basal layer as well as an increase in the number of melanophages in the subepithelial area. Oral scientists and clinicians must be familiar with Laugier-Hunziker-Baran syndrome, because this syndrome is probably more common than is generally recognized.

Metabolic syndrome and risk of acute coronary syndromes in patients younger than 45 years of age.

PubMed

Milionis, Haralampos J; Kalantzi, Kallirroi J; Papathanasiou, Athanasios J; Kosovitsas, Athanasios A; Doumas, Michael T; Goudevenos, John A

2007-06-01

There is a paucity of data with regard to the association of the metabolic syndrome with cardiovascular risk in young adults. We investigated the association of the metabolic syndrome with acute coronary syndrome in adults aged 45 years or younger. A total of 136 consecutive patients (128 men and eight women; mean age, 41.2+/-3.7 years) presenting with a first-ever acute coronary syndrome, and 136 age-matched and sex-matched controls were evaluated. The diagnosis of the metabolic syndrome was established according to the Adult Treatment Panel III criteria. The prevalence of the metabolic syndrome was significantly higher in the patients' group compared with the control group (40.4 versus 23.5%; P=0.003). Multivariate logistic regression analysis showed that smoking, positive family history of premature coronary artery disease, and the metabolic syndrome were associated with odds ratios 4.46 (95% confidence interval, 2.30-8.66; P<0.001), 3.11 (95% confidence interval, 1.71-5.66; P<0.001), and 1.97 (95% confidence interval, 1.08-3.56; P=0.02) higher odds, respectively, of having an acute coronary syndrome, after taking into account the matching for age and sex and controlling for potential confounders. Moreover, a 10-mg/dl increase in total cholesterol was associated with 1.06 higher odds of having an acute coronary syndrome. Analysis of interaction showed that smoking and a positive family history of premature coronary artery disease in young individuals with metabolic syndrome had an incremental effect on the odds of suffering an acute coronary syndrome (odds ratio, 7.12; 95% confidence interval, 2.42-20.96; P<0.001). The metabolic syndrome is highly associated with acute coronary syndrome in patients younger than 45 years of age, indicating the need for early and intensive preventive measures.

Diagnostic Criteria for Cannabis Withdrawal Syndrome

PubMed Central

Gorelick, David A.; Levin, Kenneth H.; Copersino, Marc L.; Heishman, Stephen J.; Liu, Fang; Boggs, Douglas L.; Kelly, Deanna L.

2011-01-01

Objective Cannabis withdrawal occurs in frequent users who quit, but there are no accepted diagnostic criteria for a cannabis withdrawal syndrome (CWS). This study evaluated diagnostic criteria for CWS proposed in DSM-V and two earlier proposals. Method A convenience sample of 384 adult, non-treatment-seeking lifetime cannabis smokers provided retrospective self-report data on their “most difficult” quit attempt without formal treatment, which was used in this secondary analysis. Prevalence, time of onset, and peak intensity (5-point Likert scale) for 39 withdrawal symptoms (drawn from the literature) were assessed via computer-administered questionnaire. Subject groups were compared using chi-square or ANOVA. Symptom clustering was evaluated with principal components analysis. Results 40.9% of subjects met the DSM-V criterion of ≥ 3 symptoms from a list of 7. There were no associations with sex, race, or type of cannabis preparation used. There were significant positive associations between duration or frequency of cannabis use prior to the quit attempt and experiencing CWS. Subjects with CWS had a significantly shorter duration of abstinence. Alternative syndromal criteria (dropping physical symptoms from DSM-V list; requiring ≥ 2or ≥ 4 symptoms from a list of 11) yielded a similar prevalence of CWS and similar associations with prior cannabis use and relapse. The PCA yielded 12 factors, including some symptom clusters not included in DSM-V. Conclusions Findings support the concurrent and predictive validity of the proposed DSM-V CWS, but suggest that the list of withdrawal symptoms and number required for diagnosis warrant further evaluation. PMID:22153944

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

PubMed

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

2016-01-01

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

[Congenital sensorineural deafness and associated syndromes].

PubMed

Moatti, L; Garabedian, E N; Lacombe, H; Spir-Jacob, C

1990-01-01

The etiology of perceptive deafness, especially the congenital variety, requires investigation. The presence of a variety of signs associated with deafness constitutes an "associated syndrome" and helps to define a possible genetic origin. These syndromes only represent a small percentage of overall causes of deafness in children, since at most they account for only 10% of cases. Certain syndromes are encountered more often or are well known, others are extremely rare or have only been described recently. The authors report six of these very rare syndromes discovered among their patients: a KID syndrome, a Leopard syndrome, a Norrie syndrome, a Jervell and Lange Nielsen syndrome, a recently described entity called CEE with deafness and an External Neuro-Cochleo-Pancreatic syndrome which would not appear to have been previously described.

Perceptions of diagnosis and management of patients with acute respiratory distress syndrome: a survey of United Kingdom intensive care physicians.

PubMed

Dushianthan, Ahilanandan; Cusack, Rebecca; Chee, Nigel; Dunn, John-Oliver; Grocott, Michael P W

2014-01-01

Acute respiratory distress syndrome (ARDS) is a potentially devastating refractory hypoxemic illness with multi-organ involvement. Although several randomised controlled trials into ventilator and fluid management strategies have provided level 1 evidence to guide supportive therapy, there are few, established guidelines on how to manage patients with ARDS. In addition, and despite their continued use, pharmacotherapies for ARDS disease modulation have no proven benefit in improving mortality. Little is known however about the variability in diagnostic and treatment practices across the United Kingdom (UK). The aim of this survey, therefore, was to assess the use of diagnostic criteria and treatment strategies for ARDS in critical care units across the UK. The survey questionnaire was developed and internally piloted at University Hospital Southampton NHS Foundation Trust. Following ethical approval from University of Southampton Ethics and Research Committee, a link to an online survey engine (Survey Monkey) was then placed on the Intensive Care Society (UK) website. Fellows of The Intensive Care Society were subsequently personally approached via e-mail to encourage participation. The survey was conducted over a period of 3 months. The survey received 191 responses from 125 critical care units, accounting for 11% of all registered intensive care physicians at The Intensive Care Society. The majority of the responses were from physicians managing general intensive care units (82%) and 34% of respondents preferred the American European Consensus Criteria for ARDS. There was a perceived decline in both incidence and mortality in ARDS. Primary ventilation strategies were based on ARDSnet protocols, though frequent deviations from ARDSnet positive end expiratory pressure (PEEP) recommendations (51%) were described. The majority of respondents set permissive blood gas targets (hypoxia (92%), hypercapnia (58%) and pH (90%)). The routine use of pharmacological agents is

Extracorporeal Membrane Oxygenation Characteristics and Outcomes in Adult Patients With Down Syndrome.

PubMed

Duffy, Vicky; Gomez, Daniel; Rycus, Peter; Rivera, Brian; Santoro, Stephanie L; Backes, Carl H; Cua, Clifford L

2018-05-17

population with Down syndrome. Baseline characteristics are not predictive of overall survival. There were minimal differences noted between aDS versus dDS during their extracorporeal membrane oxygenation course. Mortality rates are similar to non-Down syndrome patients placed on extracorporeal membrane oxygenation. Extracorporeal membrane oxygenation may be a reasonable option for adult patients with Down syndrome requiring intensive care. © 2018 International Center for Artificial Organs and Transplantation and Wiley Periodicals, Inc.

Design Requirements for Communication-Intensive Interactive Applications

NASA Astrophysics Data System (ADS)

Bolchini, Davide; Garzotto, Franca; Paolini, Paolo

Online interactive applications call for new requirements paradigms to capture the growing complexity of computer-mediated communication. Crafting successful interactive applications (such as websites and multimedia) involves modeling the requirements for the user experience, including those leading to content design, usable information architecture and interaction, in profound coordination with the communication goals of all stakeholders involved, ranging from persuasion to social engagement, to call for action. To face this grand challenge, we propose a methodology for modeling communication requirements and provide a set of operational conceptual tools to be used in complex projects with multiple stakeholders. Through examples from real-life projects and lessons-learned from direct experience, we draw on the concepts of brand, value, communication goals, information and persuasion requirements to systematically guide analysts to master the multifaceted connections of these elements as drivers to inform successful communication designs.

[Metabolic disorders as paraneoplastic syndromes].

PubMed

Krug, S; Michl, P

2018-02-01

Paraneoplastic syndromes are characterized by the tumor-induced release of peptide hormones and/or the initiation of immune phenomena, which elicit clinical changes and alterations in laboratory parameters independent of the tumor size and spread. In addition to neurological, endocrinal and rheumatological phenotypes, metabolic alterations play a special role in the clinical routine as they commonly present with acute symptoms in an emergency situation and necessitate immediate diagnosis and prompt initiation of treatment. Metabolic alterations within the framework of malignant diseases should be treated in a multidisciplinary team and it is often necessary to perform monitoring and treatment in an intensive care unit. This article focuses on the diagnostic and therapeutic options for metabolic disorders due to paraneoplastic syndromes, such as hypercalcemia, hypocalcemia, hyperglycemia, hypoglycemia and a special variant of tumor-induced metabolic disorders due to tumor lysis syndrome.

Recurrent unilateral headache associated with SAPHO syndrome.

PubMed

Tsugawa, Jun; Ouma, Shinji; Fukae, Jiro; Tsuboi, Yoshio

2014-01-01

A 57-year-old woman was admitted with recurrent episodes of right frontal headache. Head magnetic resonance imaging (MRI) revealed extensive thickening and enhancement of the right frontal dura, muscle and fascia, as well as abnormal signal intensity and enhancement of bone marrow at the lesions. Synovitis-acne-pustulosis-hyperostosis osteomyelitis (SAPHO) syndrome was diagnosed based on the patient's 8-year history of treatment of palmoplantar pustulosis and abnormal accumulations in the right temporal, sternum, and left medial clavicula on bone scintigraphy. SAPHO syndrome may be associated with skull lesions, which can contribute to the onset of repeated headache or dural thickening, thus these symptoms should be recognized as manifestations of this syndrome.

Lesson of the month 2: toxic shock syndrome.

PubMed

Shalaby, Tamer; Anandappa, Samantha; Pocock, Nicholas John; Keough, Alexander; Turner, Angus

2014-06-01

Toxic shock syndrome (TSS) represents a fascinating example of immune activation caused by infection resulting in a dramatic and challenging clinical syndrome. TSS is commonly associated with tampon use and still causes significant morbidity and mortality in young healthy women. A misconception is that TSS presents with a skin rash and only occurs in women and children; however, it can occur in males and can present without skin changes. TSS presents initially as a febrile illness and within a few hours can progress to severe hypotension and multiple organ failure (MOF). Staphylococcus aureus and group A beta haemolytic streptococcus (GABHS) can secrete toxins from a small or hidden focus of infection and hence blood culture and sensitivity (C+S) tests can be negative, thereby making diagnosing this condition challenging. Clindamycin is superior to penicillin in the treatment of this condition and significantly decreases the mortality rate in TSS. However, there is also an important role for intravenous immunoglobulins (IVIG). Early intensive care unit (ICU) as well as surgical team involvement (in selected cases) is required to avoid mortality which may approach 70%. © 2014 Royal College of Physicians.

Speech-feature discrimination in children with Asperger syndrome as determined with the multi-feature mismatch negativity paradigm.

PubMed

Kujala, T; Kuuluvainen, S; Saalasti, S; Jansson-Verkasalo, E; von Wendt, L; Lepistö, T

2010-09-01

Asperger syndrome, belonging to the autistic spectrum of disorders, involves deficits in social interaction and prosodic use of language but normal development of formal language abilities. Auditory processing involves both hyper- and hypoactive reactivity to acoustic changes. Responses composed of mismatch negativity (MMN) and obligatory components were recorded for five types of deviations in syllables (vowel, vowel duration, consonant, syllable frequency, syllable intensity) with the multi-feature paradigm from 8-12-year old children with Asperger syndrome. Children with Asperger syndrome had larger MMNs for intensity and smaller MMNs for frequency changes than typically developing children, whereas no MMN group differences were found for the other deviant stimuli. Furthermore, children with Asperger syndrome performed more poorly than controls in Comprehension of Instructions subtest of a language test battery. Cortical speech-sound discrimination is aberrant in children with Asperger syndrome. This is evident both as hypersensitive and depressed neural reactions to speech-sound changes, and is associated with features (frequency, intensity) which are relevant for prosodic processing. The multi-feature MMN paradigm, which includes variation and thereby resembles natural speech hearing circumstances, suggests abnormal pattern of speech discrimination in Asperger syndrome, including both hypo- and hypersensitive responses for speech features. 2010 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.

Cefepime Associated With Phenytoin Induced Stevens-Johnson Syndrome.

PubMed

Marco-Del Río, José; Domingo-Chiva, Esther; Cuesta-Montero, Pablo; Valladolid-Walsh, Ana; García-Martínez, Eva María

We describe a recent case of Stevens-Johnson Syndrome. A 49-year-old man was admitted to the Intensive Care Unit of an Anaesthesia and Resuscitation Department because of a Fournier gangrene that derived in a sepsis, ventilator-associated pneumonia, and renal failure. He was under treatment with cefepime and suffered a generalized status epilepticus, so started treatment with phenytoin. The next day he developed a "maculous cutaneous eruption in trunk and lower limbs" compatible with a Stevens-Johnson Syndrome. Stevens-Johnson Syndrome is a very severe and potentially fatal multiorganic disease, especially when present in critically ill patients, with a strong drug-related etiology, especially with antiepileptic drugs.

Fire season and intensity affect shrub recruitment in temperate sclerophyllous woodlands.

PubMed

Knox, K J E; Clarke, P J

2006-10-01

The season in which a fire occurs may regulate plant seedling recruitment because of: (1) the interaction of season and intensity of fire and the temperature requirements for seed release, germination and growth; (2) post-fire rainfall and temperature patterns affecting germination; (3) the interaction of post-fire germination conditions and competition from surrounding vegetation; and (4) the interaction of post-fire germination conditions and seed predators and/or seedling herbivores. This study examined the effects of different fire intensities and fire seasons on the emergence and survival of shrubs representing a range of fire response syndromes from a summer rainfall cool climate region. Replicated experimental burns were conducted in two seasons (spring and autumn) in 2 consecutive years and fuel loads were increased to examine the effects of fire intensity (low intensity and moderate intensity). Post-fire watering treatments partitioned the effects of seasonal temperature from soil moisture. Higher intensity fires resulted in enhanced seedling emergence for hard-seeded species but rarely influenced survival. Spring fires enhanced seedling emergence across all functional groups. Reduced autumn recruitment was related to seasonal temperature inhibiting germination rather than a lack of soil moisture or competition. In Mediterranean-type climate regions, seedling emergence has been related to post-fire rainfall and exposure of seeds to seed predators. We think a similar model may operate in temperate summer rainfall regions where cold-induced dormancy over winter exposes seeds to predators for a longer time and subsequently results in recruitment failure. Our results support the theory that the effect of fire season is more predictable where there are strong seasonal patterns in climate. In this study seasonal temperature rather than rainfall appears to be more influential.

Loeffler's syndrome: an interesting case report.

PubMed

Ekin, Selami; Sertogullarindan, Bunyamin; Gunbatar, Hulya; Arisoy, Ahmet; Yildiz, Hanifi

2016-01-01

Loeffler's syndrome is an acute pneumonia with an unclear cause. One fourth of Loeffler's syndrome patients are idiopathic, although the most common etiologic causes include parasites. Asymptomatic form is usually a reversible, self-limited disease, which does not require a specific treatment regimen. We presented a 17-year-old young man with diagnosis of Loeffler syndrome. © 2014 John Wiley & Sons Ltd.

Survey of current status of intensive care teaching in English-speaking medical schools.

PubMed

Shen, Judith; Joynt, Gavin M; Critchley, Lester A H; Tan, Ian K S; Lee, Anna

2003-01-01

To identify a consensus of opinion regarding the content of an intensive care core syllabus for undergraduate medical students and factors that may limit its teaching. Cross-sectional postal survey containing 35 items ranging from department structure to curriculum content and factors that limit the teaching of intensive care. English-speaking medical schools (n = 210) listed in the 1986 World Health Organization Directory. Of 122 (58%) returned questionnaires, a 45% return was achieved from the United States and 86% from non-U.S. countries. Most respondents (84%) considered teaching undergraduate intensive care to be essential; however, teaching intensive care was compulsory in only 31% of schools. Many schools (43%) reported recent changes to their intensive care curriculum. Most respondents (60%) thought that intensive care specialists should teach and that each student required a median (interquartile range) of 20 (10-80) hrs of teacher contact time. Resuscitation skills were taught in 98% of schools. In comparison, 63% of schools had no intensive care syllabus. More than 90% of respondents thought that the intensive care syllabus should include the following: cardiopulmonary resuscitation, assessment and management of the acutely ill patient; management of respiratory, circulatory, and multiple organ system failure (including systemic inflammatory response syndrome and sepsis); management of the unconscious patient; early postoperative care; and communication skills and ethics as they relate to end-of-life issues. Factors that limited intensive care teaching were lack of staff, funding, and time dedicated to teaching and excessive clinical workload. Student performance in intensive care was assessed by 66% of schools, but only 28% used a written or oral examination. By surveying a wide range of medical schools internationally, we have been able to define an undergraduate intensive care syllabus that could be delivered in 20 hrs or 1 wk of dedicated teaching

Genes, Brain Development and Psychiatric Phenotypes in Velo-Cardio-Facial Syndrome

ERIC Educational Resources Information Center

Gothelf, Doron; Schaer, Marie; Eliez, Stephan

2008-01-01

Velo-cardio-facial syndrome (VCFS) has been in the focus of intensive research over the last 15 years. The syndrome represents a homogeneous model for studying the effect of a decreased dosage of genes on the development of brain structure and function and, consequently, on the emergence of schizophrenia-like psychotic disorder. In this review, we…

Overuse injuries: tendinopathies, stress fractures, compartment syndrome, and shin splints.

PubMed

Wilder, Robert P; Sethi, Shikha

2004-01-01

Approximately 50% of all sports injuries are secondary to overuse and result from repetitive microtrauma that causes local tissue damage. Injuries are most likely with changes in mode, intensity, or duration of training and can accumulate before symptoms appear. Intrinsic factors contributing to injuries are individual bio-mechanical abnormalities such as malalignments, muscle imbalance, inflexibility, weakness, and instability. Contributing extrinsic (avoidable) factors include poor technique, improper equipment, and improper changes in duration or frequency of activity. Injuries are often related to biomechanical abnormalities removed from the specific injury site, requiring evaluation of the entire kinetic chain. This article discusses common overuse injuries of the lower leg, ankle, and foot: tendinopathies, stress fractures, chronic exertional compartment syndrome, and shin splints.

Re-examining Nelson's syndrome.

PubMed

Palermo, Nadine E; Ananthakrishnan, Sonia

2015-08-01

Nelson's syndrome is a rare complication that can occur during the course of management of Cushing's disease. This article summarizes the recent literature on the diagnosis, monitoring and treatment of this potentially life-threatening outcome. Nelson's syndrome, with rising adrenocorticotropin hormone levels and corticotroph tumor progression on diagnostic imaging, can develop following treatment of refractory Cushing's disease with total bilateral adrenalectomy with/without radiotherapy. However, data showing that radiotherapy prevents Nelson's syndrome is inconsistent. In addition to the treatment of Nelson's syndrome with neurosurgery with/without adjuvant radiotherapy, selective somatostatin analogs and dopamine agonists, as well as other novel agents, have been used with increasing frequency in treating cases of Nelson's syndrome with limited benefit. The risk-benefit profile of each of these therapies is still not completely understood. Consensus guidelines on the evaluation and management of Nelson's syndrome are lacking. This article highlights areas in the surveillance of Cushing's disease patients, and diagnostic criteria and treatment regimens for Nelson's syndrome that require further research and review by experts in the field.

[The Design Requirements for an E-Health Management Platform: Addressing the Needs of Adolescent Girls at High Risk of Metabolic Syndrome].

PubMed

Su, Mei-Chen; Chen, Wen-Chin; Liu, Chieh-Yu; Jou, Hei-Jen; Hsiao, Ya-Chu; Tsao, Lee-Ing

2015-10-01

The rising prevalence of metabolic syndrome among adolescents has not been effectively addressed by current campus-based health promotions. Using the Internet in these promotions may help health professionals achieve better healthcare management. The purpose of the present study was to explore the design requirements of an e-health management platform from the subjective perspective of adolescent girls who were at a high risk of metabolic syndrome. The findings may provide a reference for designing nursing interventions that more effectively promote healthly lifestyle habits to adolescents. This qualitative study employed a snowball approach and used a semi-structured interview guide to collect data. A total of 20 Taiwanese adolescent females who were at a high risk of metabolic syndrome, aged 16-20 years, able to speak Mandarin or Taiwanese, and willing to participate and to have their sessions tape-recorded were enrolled as participants and engaged individually in in-depth interviews. The constant comparative method was used to inductively analyze the interview data. Five main themes related to the e-health management platform emerged from the data. These themes included: an attractive and user-friendly website interface, access to reliable information and resources, provision of tailored health information, access to peer support, and self-monitoring and learning tools. The findings highlight the key design needs of an e-Health management platform from the perspective of adolescent girls who are at a high risk of metabolic syndrome. The identified themes may be addressed in future revisions / developments of these platforms in order to better address the needs of this vulnerable population and to effectively reduce the incidence of metabolic syndrome. The authors hope that the results of the present study may be used to provide better healthcare and support for adolescent girls with metabolic syndrome.

[Traumatic fat embolism syndrome: a case report].

PubMed

Ozyurt, Yaman; Erkal, Hakan; Ozay, Kemal; Arikan, Zuhal

2006-07-01

Fat embolism syndrome (FES) is a known complication of traumatology, especially in long bone fractures. Fat embolic events are most often clinically insignificant and difficult to recognize since clinical manifestations are varied and there is no routine laboratory or radiographic diagnostic tool. Classically, FES presents with the triad of pulmonary distress, mental status changes, and petechial rash 24 to 48 hours after long-bone fracture. We report the intensive care management of a 16-year-old female patient who developed traumatic fat embolism syndrome. Traumatic fat embolism was diagnosed, based on suggestive clinical manifestations, radiographic and laboratory findings and confirmed by the demonstration of arterial hypoxemia in the absence of other disorders. Admission to the intensive care unit, mechanical ventilatory support with positive end-expiratory pressure and supportive therapy leaded to the patient's improvement and she was discharged with planned open reduction and internal fixation.

An outbreak of neonatal toxic shock syndrome-like exanthematous disease (NTED) caused by methicillin-resistant Staphylococcus aureus (MRSA) in a neonatal intensive care unit.

PubMed

Nakano, Miyo; Miyazawa, Hirofumi; Kawano, Yasushi; Kawagishi, Mika; Torii, Keizo; Hasegawa, Tadao; Iinuma, Yoshitsugu; Ohta, Michio

2002-01-01

Neonatal toxic shock syndrome-like exanthematous disease (NTED) is a new entity of methicillin-resistant Staphylococcus aureus (MRSA) infection. Most of NTED cases reported previously in the literature were sporadic ones. In the present report, we describe an outbreak of NTED that occurred in a neonatal intensive care unit (NICU) between April, 1999 and April, 2000 in Japan. All MRSA strains isolated from 14 patients (6 NTED, 2 infections and 6 colonizations) in this outbreak belonged to the group of coagulase II and produced toxic shock syndrome toxin 1 (TSST-1). Of these, 14 strains produced staphylococcal enterotoxin C (SEC). No other superantigenic toxins were produced by these strains. The pulsed field gel electrophoresis (PFGE) patterns of genomic DNA digested with SmaI were indistinguishable each other due to no band shifting in all of the 13 strains except for strain O-21 and M56. Strain M56 was different from the dominant type in the positions of only 2 bands, whereas the pattern of strain O-21 had no similarity with the other pattern, suggesting that this outbreak was associated with the spread of a unique MRSA strain in the NICU. Two-dimensional electrophoresis (2-DE) analysis of exoproteins revealed that the patterns of these 14 strains were very indistinguishable to each other, and that these strains produced very large amounts of TSST-1 and SEC3 subtype superantigens, as measured with computer-assisted image analysis of the intensity of 2-DE spots. The 2-DE gel of O-21 showed the different pattern from the others. These results as well as the profiles of toxin production also supported the conclusion drawn from PFGE analysis. Based on these results, the involvement of TSST-1 and SEC3 in the pathogenesis of NTED is discussed.

Acute Exertional Compartment Syndrome with Rhabdomyolysis: Case Report and Review of Literature

PubMed Central

Gaunder, Christopher; Schumer, Ross

2018-01-01

Patient: Male, 17 Final Diagnosis: Acute exertional compartment syndrome Symptoms: Foot drop • leg pain • paresthesia Medication: — Clinical Procedure: Fasciotomy Specialty: Orthopedics and Traumatology Objective: Rare disease Background: Acute exertional compartment syndrome (AECS) is a rare cause of leg pain often associated with a delay in diagnosis and potentially leading to irreversible muscle and nerve damage. Case Report: We present the case of a previously healthy, high-level athlete who presented with the acute onset of unilateral anterior leg pain and foot drop the day after a strenuous workout. He was diagnosed with compartment syndrome and rhabdomyolysis. His management included emergent fluid resuscitation, fasciotomies, debridement of necrotic muscle from his anterior compartment, and delayed primary closure. After six months of intensive outpatient physical therapy, including the use of blood flow restriction treatments, the patient returned to sports and received a NCAA Division I Football scholarship. Conclusions: We describe the details of this patient’s case and review the literature related to acute exertional compartment syndrome. The occurrence of acute compartment syndrome in the absence of trauma or fracture, though rare, can have devastating consequences following delays in treatment. AECS requires prompt diagnosis and surgical intervention to prevent these consequences. Diagnosis of atraumatic cases can be difficult, which is why awareness is equally as important as history and physical examination. While diagnosis is primarily clinical, it can be supported with direct intra-compartmental pressure measurements and maintaining a high index of suspicion in acute presentations of exertional limb pain. PMID:29415981

Management of neutropenic patients in the intensive care unit (NEWBORNS EXCLUDED) recommendations from an expert panel from the French Intensive Care Society (SRLF) with the French Group for Pediatric Intensive Care Emergencies (GFRUP), the French Society of Anesthesia and Intensive Care (SFAR), the French Society of Hematology (SFH), the French Society for Hospital Hygiene (SF2H), and the French Infectious Diseases Society (SPILF).

PubMed

Schnell, David; Azoulay, Elie; Benoit, Dominique; Clouzeau, Benjamin; Demaret, Pierre; Ducassou, Stéphane; Frange, Pierre; Lafaurie, Matthieu; Legrand, Matthieu; Meert, Anne-Pascale; Mokart, Djamel; Naudin, Jérôme; Pene, Frédéric; Rabbat, Antoine; Raffoux, Emmanuel; Ribaud, Patricia; Richard, Jean-Christophe; Vincent, François; Zahar, Jean-Ralph; Darmon, Michael

2016-12-01

Neutropenia is defined by either an absolute or functional defect (acute myeloid leukemia or myelodysplastic syndrome) of polymorphonuclear neutrophils and is associated with high risk of specific complications that may require intensive care unit (ICU) admission. Specificities in the management of critically ill neutropenic patients prompted the establishment of guidelines dedicated to intensivists. These recommendations were drawn up by a panel of experts brought together by the French Intensive Care Society in collaboration with the French Group for Pediatric Intensive Care Emergencies, the French Society of Anesthesia and Intensive Care, the French Society of Hematology, the French Society for Hospital Hygiene, and the French Infectious Diseases Society. Literature review and formulation of recommendations were performed using the Grading of Recommendations Assessment, Development and Evaluation system. Each recommendation was then evaluated and rated by each expert using a methodology derived from the RAND/UCLA Appropriateness Method. Six fields are covered by the provided recommendations: (1) ICU admission and prognosis, (2) protective isolation and prophylaxis, (3) management of acute respiratory failure, (4) organ failure and organ support, (5) antibiotic management and source control, and (6) hematological management. Most of the provided recommendations are obtained from low levels of evidence, however, suggesting a need for additional studies. Seven recommendations were, however, associated with high level of evidences and are related to protective isolation, diagnostic workup of acute respiratory failure, medical management, and timing surgery in patients with typhlitis.

Down syndrome, RASopathies, and other rare syndromes.

PubMed

Kratz, Christian P; Izraeli, Shai

2017-04-01

In this article we discuss the occurrence of myeloid neoplasms in patients with a range of syndromes that are due to germline defects of the RAS signaling pathway and in patients with trisomy 21. Both RAS mutations and trisomy 21 are common somatic events contributing to leukemogenis. Thus, the increased leukemia risk observed in children affected by these conditions is biologically highly plausible. Children with myeloid neoplasms in the context of these syndromes require different treatments than children with sporadic myeloid neoplasms and provide an opportunity to study the role of trisomy 21 and RAS signaling during leukemogenesis and development. Copyright © 2017 Elsevier Inc. All rights reserved.

Severe H1N1-Associated acute respiratory distress syndrome: A case series.

PubMed

Lai, Andrew R; Keet, Kevin; Yong, Celina M; Diaz, Janet V

2010-03-01

Acute respiratory distress syndrome resulting from novel influenza A virus (H1N1) infection remains uncommon. We describe the clinical profiles of adult patients with acute respiratory distress syndrome due to microbiologically confirmed H1N1 admitted to a medical intensive care unit in San Francisco, California over a 2-month period. Between June 1 and July 31, 2009, 7 patients (age range: 25-66 years; 4 patients under the age of 40 years; 6 male; 1 pregnant) were diagnosed with H1N1, with 5 of 6 (83%) having initial false-negative rapid testing. All developed respiratory failure complicated by acute respiratory distress syndrome, with 4 additionally developing multiorgan dysfunction. All were managed with a lung protective ventilator strategy (average number of days on the ventilator: 16), and 4 patients also required additional rescue therapies for refractory hypoxemia, including very high positive end-expiratory pressure, inhaled epoprostenol, recruitment maneuvers, and prone positioning. Despite these measures, 3 patients (43%) ultimately died. Clinicians should be vigilant for the potential of H1N1 infection to progress to severe acute respiratory distress syndrome in a variety of patient demographics, including younger patients without baseline cardiopulmonary disease. A high degree of suspicion is critical, especially with the relative insensitivity of rapid testing, and should prompt empiric antiviral therapy. 2010 Elsevier Inc. All rights reserved.

Pain management in Guillain-Barre syndrome: a systematic review.

PubMed

Peña, L; Moreno, C B; Gutierrez-Alvarez, A M

2015-09-01

Pain is a common symptom in patients with Guillain-Barre syndrome. Intensity is moderate to severe in most cases and pain may persist after resolution of the disease. Identify the most appropriate analgesic therapy for pain management in patients with Guillain-Barre syndrome. Systematic review and selection of scientific articles on treatment of pain in Guillain-Barre syndrome patients, published between January 1985 and December 2012. We included only randomised, double-blind, controlled trials assessing the effectiveness of drugs for pain management in these patients. Four articles met the inclusion criteria. One evaluated the use of gabapentin, another evaluated carbamazepine, a third compared gabapentin to carbamazepine, and the last evaluated use of methylprednisolone. Both carbamazepine and gabapentin were useful for pain management. Patients experienced lower-intensity pain with gabapentin treatment in the study comparing that drug to carbamazepine. Methylprednisolone was not shown to be effective for reducing pain. The published data did not permit completion of a meta-analysis. There is no robust evidence at present that would point to a single treatment option for this disorder. Further clinical studies of larger patient samples and with a longer duration are needed to characterise types of pain for each patient and measure pain intensity in an objective way. Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.

Metabolic Syndrome: Polycystic Ovary Syndrome.

PubMed

Mortada, Rami; Williams, Tracy

2015-08-01

Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. Written permission from the American Academy of Family Physicians is required for reproduction of this material in whole or in part in any form or medium.

[Cases of menstrual toxic shock syndrome in the Czech Republic in 1997-2011].

PubMed

Petrás, P; Machová, I; Rysková, L; Prásil, P

2011-11-01

To determine toxigenicity and other basic characteristics of 47 strains of Staphylococcus aureus referred to the National Reference Laboratory for Staphylococci (NRL) as suspected causative agents of menstrual toxic shock syndrome (MTSS). S. aureus strains were collected from 11 administrative regions of the Czech Republic in 1997-2011. The diagnosis was based on phenotypic (reverse latex agglutination test) and genotypic (polymerase chain reaction) methods. Forty-four S. aureus strains were producers of toxic shock syndrome toxin 1 (TSST-1), either alone or in combination with staphylococcal enterotoxin. Three strains only produced enterotoxin (B, C, and H). MTSS is a serious multisystem disease. In this study, MTSS often had a severe course requiring intensive care. All MTSS patients used vaginal tampons that had been identified in the literature as a risk factor for MTSS. The case of MTSS in a 36-year-old woman caused by an enterotoxin H positive strain of S. aureus is probably the first to be reported in the world.

Marfan Syndrome: A Clinical Update.

PubMed

Bitterman, Adam D; Sponseller, Paul D

2017-09-01

Marfan syndrome is a connective tissue disorder that can affect many organ systems. Affected patients present with orthopaedic manifestations of the syndrome during all phases of life. Pain caused by musculoskeletal abnormalities often requires definitive orthopaedic treatment. Orthopaedic surgeons must understand the phenotypes of Marfan syndrome so they can recognize when screening is warranted and can appropriately address the skeletal manifestations. Through medical advancements, patients with Marfan syndrome are living longer and more active lives. Knowledge of the latest diagnostic criteria for the disorder, as well as of advances in understanding the skeletal phenotype, clinical trials of medication therapy, and lifestyle considerations is important for orthopaedic surgeons who treat these patients because these clinicians often are the first to suspect Marfan syndrome and recommend screening.

Cardiovascular disease in the polycystic ovary syndrome: new insights and perspectives.

PubMed

Cussons, Andrea J; Stuckey, Bronwyn G A; Watts, Gerald F

2006-04-01

The new millennium has brought intense focus of interest on the risk of cardiovascular disease in women. The polycystic ovary syndrome (PCOS) is a common endocrine disorder in women characterised by hyperandrogenism and oligomenorrhoea. Most women with PCOS also exhibit features of the metabolic syndrome, including insulin resistance, obesity and dyslipidaemia. While the association with type 2 diabetes is well established, whether the incidence of cardiovascular disease is increased in women with PCOS remains unclear. Echocardiography, imaging of coronary and carotid arteries, and assessments of both endothelial function and arterial stiffness have recently been employed to address this question. These studies have collectively demonstrated both structural and functional abnormalities of the cardiovascular system in PCOS. These alterations, however, appear to be related to the presence of individual cardiovascular risk factors, particularly insulin resistance, rather than to the presence of PCOS and hyperandrogenaemia per se. However, given the inferential nature of the evidence to date, more rigorous cohort studies of long-term cardiovascular outcomes and clinical trials of risk factor modification are required in women with PCOS.

Time-of-Flight MR Angiography for Detection of Cerebral Hyperperfusion Syndrome after Superficial Temporal Artery-Middle Cerebral Artery Anastomosis in Moyamoya Disease.

PubMed

Sato, K; Yamada, M; Kuroda, H; Yamamoto, D; Asano, Y; Inoue, Y; Fujii, K; Kumabe, T

2016-07-01

Cerebral hyperperfusion syndrome is a potential complication of superficial temporal artery-MCA anastomosis for Moyamoya disease. In this study, we evaluated whether TOF-MRA could assess cerebral hyperperfusion syndrome after superficial temporal artery-MCA anastomosis for this disease. This retrospective study included patients with Moyamoya disease who underwent superficial temporal artery-MCA single anastomosis. TOF-MRA and SPECT were performed before and 1-6 days after anastomosis. Bilateral ROIs on the source image of TOF-MRA were manually placed directly on the parietal branch of the superficial temporal artery just after branching the frontal branch of the superficial temporal artery and on the contralateral superficial temporal artery on the same axial image, respectively. The change ratio of the maximum signal intensity of the superficial temporal artery on TOF-MRA was calculated by using the following formula: (Postoperative Ipsilateral/Postoperative Contralateral)/(Preoperative Ipsilateral/Preoperative Contralateral). Of 23 patients (26 sides) who underwent the operation, 5 sides showed cerebral hyperperfusion syndrome postoperatively. There was a significant difference in the change ratio of signal intensity on TOF-MRA observed between the cerebral hyperperfusion syndrome and non-cerebral hyperperfusion syndrome groups (cerebral hyperperfusion syndrome group: 1.88 ± 0.32; non-cerebral hyperperfusion syndrome group: 1.03 ± 0.20; P = .0009). The minimum ratio value for the cerebral hyperperfusion syndrome group was 1.63, and the maximum ratio value for the non-cerebral hyperperfusion syndrome group was 1.30. Thus, no overlap was observed between the 2 groups for the change ratio of signal intensity on TOF-MRA. Diagnosis of cerebral hyperperfusion syndrome is indicated by an increase in the change ratio of signal intensity on TOF-MRA by more than approximately 1.5 times the preoperative levels. © 2016 by American Journal of Neuroradiology.

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

PubMed Central

Fabre, Alexandre; Charroux, Bernard; Martinez-Vinson, Christine; Roquelaure, Bertrand; Odul, Egritas; Sayar, Ersin; Smith, Hilary; Colomb, Virginie; Andre, Nicolas; Hugot, Jean-Pierre; Goulet, Olivier; Lacoste, Caroline; Sarles, Jacques; Royet, Julien; Levy, Nicolas; Badens, Catherine

2012-01-01

Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, and it has recently been associated with mutations in TTC37. Although databases report TTC37 as being the human ortholog of Ski3p, one of the yeast Ski-complex cofactors, this lead was not investigated in initial studies. The Ski complex is a multiprotein complex required for exosome-mediated RNA surveillance, including the regulation of normal mRNA and the decay of nonfunctional mRNA. Considering the fact that TTC37 is homologous to Ski3p, we explored a gene encoding another Ski-complex cofactor, SKIV2L, in six individuals presenting with typical syndromic diarrhea without variation in TTC37. We identified mutations in all six individuals. Our results show that mutations in genes encoding cofactors of the human Ski complex cause syndromic diarrhea, establishing a link between defects of the human exosome complex and a Mendelian disease. PMID:22444670

Emotion Regulation in Children with Down Syndrome.

ERIC Educational Resources Information Center

Smith, Maureen C.; Walden, Tedra A.

This study presents a preliminary exploration of emotion regulation in a sample of 20 children (ages 3-18 years) with Down Syndrome. Three aspects of emotion regulation (modulation, organization, flexibility) were predicted from emotion variables (affect intensity, affective expression, and autonomy-curiosity and motivation) in backward regression…

Assessing Energy Requirements in Women With Polycystic Ovary Syndrome: A Comparison Against Doubly Labeled Water.

PubMed

Broskey, Nicholas T; Klempel, Monica C; Gilmore, L Anne; Sutton, Elizabeth F; Altazan, Abby D; Burton, Jeffrey H; Ravussin, Eric; Redman, Leanne M

2017-06-01

Weight loss is prescribed to offset the deleterious consequences of polycystic ovary syndrome (PCOS), but a successful intervention requires an accurate assessment of energy requirements. Describe energy requirements in women with PCOS and evaluate common prediction equations compared with doubly labeled water (DLW). Cross-sectional study. Academic research center. Twenty-eight weight-stable women with PCOS completed a 14-day DLW study along with measures of body composition and resting metabolic rate and assessment of physical activity by accelerometry. Total daily energy expenditure (TDEE) determined by DLW. TDEE was 2661 ± 373 kcal/d. TDEE estimated from four commonly used equations was within 4% to 6% of the TDEE measured by DLW. Hyperinsulinemia (fasting insulin and homeostatic model assessment of insulin resistance) was associated with TDEE estimates from all prediction equations (both r = 0.45; P = 0.02) but was not a significant covariate in a model that predicts TDEE. Similarly, hyperandrogenemia (total testosterone, free androgen index, and dehydroepiandrosterone sulfate) was not associated with TDEE. In weight-stable women with PCOS, the following equation derived from DLW can be used to determine energy requirements: TDEE (kcal/d) = 438 - [1.6 * Fat Mass (kg)] + [35.1 * Fat-Free Mass (kg)] + [16.2 * Age (y)]; R2 = 0.41; P = 0.005. Established equations using weight, height, and age performed well for predicting energy requirements in weight-stable women with PCOS, but more precise estimates require an accurate assessment of physical activity. Our equation derived from DLW data, which incorporates habitual physical activity, can also be used in women with PCOS; however, additional studies are needed for model validation. Copyright © 2017 Endocrine Society

Anxiety in Asperger's Syndrome: Assessment in Real Time

ERIC Educational Resources Information Center

Hare, Dougal J.; Wood, Christopher; Wastell, Sarah; Skirrow, Paul

2015-01-01

Anxiety is a major problem for many people with Asperger's syndrome who may have qualitatively different fears from a non-Asperger's syndrome population. Research has relied on measures developed for non-Asperger's syndrome populations that require reporting past experiences of anxiety, which may confound assessment in people with Asperger's…

Clinical outcomes of patients requiring ventilatory support in Brazilian intensive care units: a multicenter, prospective, cohort study

PubMed Central

2013-01-01

Introduction Contemporary information on mechanical ventilation (MV) use in emerging countries is limited. Moreover, most epidemiological studies on ventilatory support were carried out before significant developments, such as lung protective ventilation or broader application of non-invasive ventilation (NIV). We aimed to evaluate the clinical characteristics, outcomes and risk factors for hospital mortality and failure of NIV in patients requiring ventilatory support in Brazilian intensive care units (ICU). Methods In a multicenter, prospective, cohort study, a total of 773 adult patients admitted to 45 ICUs over a two-month period requiring invasive ventilation or NIV for more than 24 hours were evaluated. Causes of ventilatory support, prior chronic health status and physiological data were assessed. Multivariate analysis was used to identifiy variables associated with hospital mortality and NIV failure. Results Invasive MV and NIV were used as initial ventilatory support in 622 (80%) and 151 (20%) patients. Failure with subsequent intubation occurred in 54% of NIV patients. The main reasons for ventilatory support were pneumonia (27%), neurologic disorders (19%) and non-pulmonary sepsis (12%). ICU and hospital mortality rates were 34% and 42%. Using the Berlin definition, acute respiratory distress syndrome (ARDS) was diagnosed in 31% of the patients with a hospital mortality of 52%. In the multivariate analysis, age (odds ratio (OR), 1.03; 95% confidence interval (CI), 1.01 to 1.03), comorbidities (OR, 2.30; 95% CI, 1.28 to 3.17), associated organ failures (OR, 1.12; 95% CI, 1.05 to 1.20), moderate (OR, 1.92; 95% CI, 1.10 to 3.35) to severe ARDS (OR, 2.12; 95% CI, 1.01 to 4.41), cumulative fluid balance over the first 72 h of ICU (OR, 2.44; 95% CI, 1.39 to 4.28), higher lactate (OR, 1.78; 95% CI, 1.27 to 2.50), invasive MV (OR, 2.67; 95% CI, 1.32 to 5.39) and NIV failure (OR, 3.95; 95% CI, 1.74 to 8.99) were independently associated with hospital mortality

38 CFR 4.88a - Chronic fatigue syndrome.

Code of Federal Regulations, 2012 CFR

2012-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2012-07-01 2012-07-01 false Chronic fatigue syndrome... Deficiencies § 4.88a Chronic fatigue syndrome. (a) For VA purposes, the diagnosis of chronic fatigue syndrome requires: (1) new onset of debilitating fatigue severe enough to reduce daily activity to less than 50...

38 CFR 4.88a - Chronic fatigue syndrome.

Code of Federal Regulations, 2013 CFR

2013-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2013-07-01 2013-07-01 false Chronic fatigue syndrome... Deficiencies § 4.88a Chronic fatigue syndrome. (a) For VA purposes, the diagnosis of chronic fatigue syndrome requires: (1) new onset of debilitating fatigue severe enough to reduce daily activity to less than 50...

38 CFR 4.88a - Chronic fatigue syndrome.

Code of Federal Regulations, 2014 CFR

2014-07-01

... 38 Pensions, Bonuses, and Veterans' Relief 1 2014-07-01 2014-07-01 false Chronic fatigue syndrome... Deficiencies § 4.88a Chronic fatigue syndrome. (a) For VA purposes, the diagnosis of chronic fatigue syndrome requires: (1) new onset of debilitating fatigue severe enough to reduce daily activity to less than 50...

[Fournier syndrome: the perception of the patient].

PubMed

Cavalini, Fernanda; Moriya, Tokico Murakawa; Pelá, Nilza Teresa Rotter

2002-06-01

The purpose of the present investigation was to identify the perception of the Fournier syndrome's patients about their disease and caregivers. Data was collected by means of interviews with a structured routine and the analysis was based on the André's analysis of prose. According to the patients, the syndrome causes intense pain, edema, fever and wounds, demanding surgical treatment, dressings and bringing physical, economical and familiar problems. The caregivers' attitudes and behaviors were described as having more negative aspects than good ones. The necessity of a better training of the caregivers in the cognitive, psychomotor and affective sense is evident.

Long-term high-intensity interval training associated with lifestyle modifications improves QT dispersion parameters in metabolic syndrome patients.

PubMed

Drigny, J; Gremeaux, V; Guiraud, T; Gayda, M; Juneau, M; Nigam, A

2013-07-01

QT dispersion (QTd) is a marker of myocardial electrical instability, and is increased in metabolic syndrome (MetS). Moderate intensity continuous exercise (MICE) training was shown to improve QTd in MetS patients. To describe long-term effects of MICE and high-intensity interval exercise training (HIIT) on QTd parameters in MetS. Sixty-five MetS patients (53 ± 9 years) were assigned to either a MICE (60% of peak power output [PPO]), or a HIIT program (alternating phases of 15-30 s at 80% of PPO interspersed by passive recovery phases of equal duration), twice weekly during 9 months. Ventricular repolarization indices (QT dispersion=QTd, standard deviation of QT = sdQT, relative dispersion of QT = rdQT, QT corrected dispersion = QTcd), metabolic, anthropometric and exercise parameters were measured before and after the intervention. No adverse events were noted during exercise. QTd decreased significantly in both groups (51 vs 56 ms in MICE, P < 0.05; 34 vs 38 ms in HIIT, P < 0.05). Changes in QTd were correlated with changes in maximal heart rate (r = -0.69, P < 0.0001) and in heart rate recovery (r = -0.49, P < 0.01) in the HIIT group only. When compared to MICE, HIIT training induced a greater decrease in weight, BMI and waist circumference. Exercise capacity significantly improved by 0.82 and 1.25 METs in MICE and HIIT groups respectively (P < 0.0001). Lipid parameters also improved to the same degree in both groups. In MetS, long-term HIIT and MICE training led to comparable effects on ventricular repolarization indices, and HIIT might be associated with greater improvements in certain cardiometabolic risk factors. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Mild aerobic exercise blocks elastin fiber fragmentation and aortic dilatation in a mouse model of Marfan syndrome associated aortic aneurysm.

PubMed

Gibson, Christine; Nielsen, Cory; Alex, Ramona; Cooper, Kimbal; Farney, Michael; Gaufin, Douglas; Cui, Jason Z; van Breemen, Cornelis; Broderick, Tom L; Vallejo-Elias, Johana; Esfandiarei, Mitra

2017-07-01

Regular low-impact physical activity is generally allowed in patients with Marfan syndrome, a connective tissue disorder caused by heterozygous mutations in the fibrillin-1 gene. However, being above average in height encourages young adults with this syndrome to engage in high-intensity contact sports, which unfortunately increases the risk for aortic aneurysm and rupture, the leading cause of death in Marfan syndrome. In this study, we investigated the effects of voluntary (cage-wheel) or forced (treadmill) aerobic exercise at different intensities on aortic function and structure in a mouse model of Marfan syndrome. Four-week-old Marfan and wild-type mice were subjected to voluntary and forced exercise regimens or sedentary lifestyle for 5 mo. Thoracic aortic tissue was isolated and subjected to structural and functional studies. Our data showed that exercise improved aortic wall structure and function in Marfan mice and that the beneficial effect was biphasic, with an optimum at low intensity exercise (55-65% V̇o 2max ) and tapering off at a higher intensity of exercise (85% V̇o 2max ). The mechanism underlying the reduced elastin fragmentation in Marfan mice involved reduction of the expression of matrix metalloproteinases 2 and 9 within the aortic wall. These findings present the first evidence of potential beneficial effects of mild exercise on the structural integrity of the aortic wall in Marfan syndrome associated aneurysm. Our finding that moderate, but not strenuous, exercise protects aortic structure and function in a mouse model of Marfan syndrome could have important implications for the medical care of young Marfan patients. NEW & NOTEWORTHY The present study provides conclusive scientific evidence that daily exercise can improve aortic health in a mouse model of Marfan syndrome associated aortic aneurysm, and it establishes the threshold for the exercise intensity beyond which exercise may not be as protective. These findings establish a platform

Moderate-to-high-intensity training and a hypocaloric Mediterranean diet enhance endothelial progenitor cells and fitness in subjects with the metabolic syndrome.

PubMed

Fernández, Juan Marcelo; Rosado-Álvarez, Daniel; Da Silva Grigoletto, Marzo Edir; Rangel-Zúñiga, Oriol Alberto; Landaeta-Díaz, Leslie Lorena; Caballero-Villarraso, Javier; López-Miranda, José; Pérez-Jiménez, Francisco; Fuentes-Jiménez, Francisco

2012-09-01

A reduction in EPC (endothelial progenitor cell) number could explain the development and progression of atherosclerosis in the MetS (metabolic syndrome). Although much research in recent years has focused on the Mediterranean dietary pattern and the MetS, the effect of this diet with/without moderate-to-high-intensity endurance training on EPCs levels and CrF (cardiorespiratory fitness) remains unclear. In the present study, the objective was to assess the effect of a Mediterranean diet hypocaloric model with and without moderate-to-high-intensity endurance training on EPC number and CrF of MetS patients. Thus 45 MetS patients (50-66 years) were randomized to a 12-week intervention with the hypocaloric MeD (Mediterranean diet) or the MeDE (MeD plus moderate-to-high-intensity endurance training). Training included two weekly supervised sessions [80% MaxHR (maximum heart rate); leg and arm pedalling] and one at-home session (65-75% MaxHR; walking controlled by heart rate monitors). Changes in: (i) EPC number [CD34(+)KDR(+) (kinase insert domain-containing receptor)], (ii) CrF variables and (iii) MetS components and IRH (ischaemic reactive hyperaemia) were determined at the end of the study. A total of 40 subjects completed all 12 weeks of the study, with 20 in each group. The MeDE led to a greater increase in EPC numbers and CrF than did the MeD intervention (P ≤ 0.001). In addition, a positive correlation was observed between the increase in EPCs and fitness in the MeDE group (r=0.72; r(2)=0.52; P ≤ 0.001). Body weight loss, insulin sensitivity, TAGs (triacylglycerols) and blood pressure showed a greater decrease in the MeDE than MeD groups. Furthermore, IRH was only improved after the MeDE intervention. In conclusion, compliance with moderate-to-high-intensity endurance training enhances the positive effects of a model of MeD on the regenerative capacity of endothelium and on the fitness of MetS patients.

Do survivors of acute neurologic injury remember their stay in the neuroscience intensive care unit?

PubMed

Hocker, Sara; Anderson, Heidi L; McMahon, Katherine E; Wijdicks, Eelco F M

2013-06-01

Patients in medical, surgical, and trauma intensive care units (ICUs) are at risk for later development of symptoms of post-traumatic stress disorder (PTSD). Because acute brain injury can impair recall; we sought to show that neuroscience patients undergoing prolonged neuroscience ICU admission have limited memory of their ICU stay and thus are less likely to develop symptoms of PTSD. We surveyed patients >18 years admitted for 10 days or more to our neuroscience ICU over a 10-year period. The survey response rate was 50.5% (47/93). Forty percent (19/47) of respondents presented with coma. Recall of details of the ICU admission was limited. Fewer than 10% of patients who required mechanical ventilation recalled being on a ventilator. Only five patients (11%) had responses suggestive of possible post-traumatic stress syndrome. The most commonly experienced symptoms following discharge were difficulty sleeping, difficulty with concentration, and memory loss. Patients requiring prolonged neuroscience ICU admission do not appear to be traumatized by their ICU stay.

Cotard syndrome in neurological and psychiatric patients.

PubMed

Ramirez-Bermudez, Jesus; Aguilar-Venegas, Luis C; Crail-Melendez, Daniel; Espinola-Nadurille, Mariana; Nente, Francisco; Mendez, Mario F

2010-01-01

The authors describe the frequency and characteristics of Cotard syndrome among neurological and psychiatric inpatients at a tertiary referral center. All inpatients from the National Institute of Neurology of Mexico (March 2007-May 2009) requiring neuropsychiatric consultation were reviewed. Among 1,321 inpatient consultations, 63.7% had neurological disease and one (0.11%) had viral encephalitis and Cotard syndrome. Of inpatients, 36.2% had pure psychiatric disorders and three (0.62%) had Cotard syndrome, associated with psychotic depression, depersonalization, and penile retraction (koro syndrome). This review discusses potential mechanisms for Cotard syndrome, including the role of a perceptual-emotional dissociation in self-misattribution in the deliré des negations.

Computer EEG-monitoring of laserotherapy effects in patients with asteno-depressive syndrome.

PubMed

Omelchenko, V P; Baranchook, I S; Dmitriev, M N

1999-01-01

Nowadays the low-intensive laserotherapy is shown to be an effective and non-hazardous method of asteno-depressive syndrome treatment. The differences of EEG-reactions to laser influences have been revealed in patients of different age groups. And the close negative correlation between the therapy effect, on the one hand, and the patient's age and the disease duration, on the other hand, has been shown. No significant changes of the patient's state or integrative EEG-indices have been evoked by a placebo application. The results showed the advantages of the low-intensive laserotherapy in asteno-depressive syndrome treatment and confirmed the significance of computer EEG-monitoring for prediction, control and correction of the state of the patient.

Apert, Crouzon and Other Craniosynostosis Syndromes.

ERIC Educational Resources Information Center

Hospital for Sick Children, Toronto (Ontario).

This booklet discusses the impact and treatment of the two craniosynostosis syndromes (Apert and Crouzon), which involve the premature fusion of skull sutures, are usually identified at birth, and require years of treatment. It is noted that children with Apert syndrome may have some degree of mental retardation while children with Crouzon…

Genetic testing in nephrotic syndrome--challenges and opportunities.

PubMed

Gbadegesin, Rasheed A; Winn, Michelle P; Smoyer, William E

2013-03-01

Monogenic nephrotic syndrome (nephrotic syndrome caused by a single gene defect) is responsible for only a small percentage of cases of nephrotic syndrome, but information from studies of the unique cohort of patients with this form of the disease has dramatically improved our understanding of the disease pathogenesis. The use of genetic testing in the management of children and adults with nephrotic syndrome poses unique challenges for clinicians in terms of who to test and how to use the information obtained from testing in the clinical setting. In our view, not enough data exist at present to justify the routine genetic testing of all patients with nephrotic syndrome. Testing is warranted, however, in patients with congenital nephrotic syndrome (onset at 0-3 months), infantile nephrotic syndrome (onset at 3-12 months), a family history of nephrotic syndrome, and those in whom nephrotic syndrome is associated with other congenital malformations. The family and/or the patient should be given complete and unbiased information on the potential benefits and risks associated with therapy, including the reported outcomes of treatment in patients with similar mutations. Based on the data available in the literature so far, intensive immunosuppressive treatment is probably not indicated in monogenic nephrotic syndrome if complete or partial remission has not been achieved within 6 weeks of starting treatment. We advocate that family members of individuals with genetic forms of nephrotic syndrome undergo routine genetic testing prior to living-related kidney transplantation. Prospective, multicentre studies are needed to more completely determine the burden of disease caused by monogenic nephrotic syndrome, and randomized controlled trials are needed to clarify the presence or absence of clinical responses of monogenic nephrotic syndrome to available therapies.

Intense pulsed light treatment for dry eye disease due to meibomian gland dysfunction; a 3-year retrospective study.

PubMed

Toyos, Rolando; McGill, William; Briscoe, Dustin

2015-01-01

The purpose of this study was to determine the clinical benefits of intense-pulsed-light therapy for the treatment of dry-eye disease caused by meibomian gland dysfunction (MGD). MGD is the leading cause of evaporative dry eye disease. It is currently treated with a range of methods that have been shown to be only somewhat effective, leading to the need for advanced treatment options. A retrospective noncomparative interventional case series was conducted with 91 patients presenting with severe dry eye syndrome. Treatment included intense-pulsed-light therapy and gland expression at a single outpatient clinic over a 30-month study. Pre/post tear breakup time data were available for a subset of 78 patients. For all patients, a specially developed technique for the treatment of dry eye syndrome was applied as a series of monthly treatments until there was adequate improvement in dry eye syndrome symptoms by physician judgment, or until patient discontinuation. Primary outcomes included change in tear breakup time, self-reported patient satisfaction, and adverse events. Physician-judged improvement in dry eye tear breakup time was found for 68 of 78 patients (87%) with seven treatment visits and four maintenance visits on average (medians), and 93% of patients reported post-treatment satisfaction with degree of dry eye syndrome symptoms. Adverse events, most typically redness or swelling, were found for 13% of patients. No serious adverse events were found. Although preliminary, study results of intense-pulsed-light therapy treatment for dry eye syndrome caused by meibomian gland dysfunction are promising. A multisite clinical trial with a larger sample, treatment comparison groups, and randomized controlled trials is currently underway.

Burnout syndrome--assessment of a stressful job among intensive care staff.

PubMed

Cubrilo-Turek, Mirjana; Urek, Roman; Turek, Stjepan

2006-03-01

The purpose of the study was to investigate the degree of burnout experienced by intensive care staff particularly, in Medical (MICU) and Surgical Intensive Care Units (SICU) General Hospital "Sveti Duh", Zagreb. A sample group of 41 emergency physicians and nurses from MICU and 30 from SICU was tested. The survey included demographic data and Maslach Burnout Inventory (MBI) scoring test identified by the three main components associated with burnout: emotional exhaustion (MBI-EE), depersonalization (MBI-DEP), and personal accomplishment (MBI-PA) were assessed using 22-item questionnaire. The degrees of burnout were stratified into low, moderate, and high range. Mean total MBI (X +/- SD) were high in both groups: higher for the MICU (65.5 +/- 6.7) than for SICU staff (55.7 +/- 3.8, p < 0.05). MICU staff showed moderate degree of MBI-EE (24.9 +/- 11.2), MBI-DEP (6.0 +/- 5.6), and as well as MBI-PA (34.4 +/- 8.8). The same parameters showed better results among SICU staff: low degree of MBI-EE (17.1 +/- 5.2), as well as low level of MBI-DEP (5.2 +/- 5.0), and moderate degree of MBI-PA (33.7 +/- 9.8). The differences between the groups was statistically significant only for the total MBI, and for MBI-EE (p < 0.05). There were no significant differences between MICU and SICU staff for MBI-DEP or MBI-PA parameters. Overall job burnout represented in a moderate degree. The presence of burnout is a serious phenomenon, because it can lead to psychosomatic complaints, work-associated withdrawal behaviour, and a lower quality of care at intensive care units. Early recognition of burnout phenomenon as a result of prolonged stress and frustration among intensive care staff, contributes to better professional behavior, organizational structure changes in the work environment and better health care quality for critically ill patients.

Forearm Compartment Syndrome: Evaluation and Management.

PubMed

Kistler, Justin M; Ilyas, Asif M; Thoder, Joseph J

2018-02-01

Compartment syndrome of the forearm is uncommon but can have devastating consequences. Compartment syndrome is a result of osseofascial swelling leading to decreased tissue perfusion and tissue necrosis. There are numerous causes of forearm compartment syndrome and high clinical suspicion must be maintained to avoid permanent disability. The most widely recognized symptoms include pain out of proportion and pain with passive stretch of the wrist and digits. Early diagnosis and decompressive fasciotomy are essential in the treatment of forearm compartment syndrome. Closure of fasciotomy wounds can often be accomplished by primary closure but many patients require additional forms of soft tissue coverage procedures. Copyright © 2017 Elsevier Inc. All rights reserved.

Streptococcus agalactiae Toxic Shock-Like Syndrome

PubMed Central

Al Akhrass, Fadi; Abdallah, Lina; Berger, Steven; Hanna, Rami; Reynolds, Nina; Thompson, Shellie; Hallit, Rabih; Schlievert, Patrick M.

2013-01-01

Abstract We present 2 patients with Streptococcus agalactiae toxic shock-like syndrome and review another 11 well-reported cases from the literature. Streptococcal toxic shock-like syndrome is a devastating illness with a high mortality rate, therefore we stress the importance of early supportive management, antimicrobial therapy, and surgical intervention. Toxic shock-like syndrome is likely to be underestimated in patients with invasive Streptococcus agalactiae infection who present with shock. Early diagnosis requires high suspicion of the illness, along with a thorough mucocutaneous examination. Streptococcus agalactiae produces uncharacterized pyrogenic toxins, which explains the ability of the organism to cause toxic shock-like syndrome. PMID:23263717

The Effects of Low Intensity Laser on Clinical and Electrophysiological Parameters of Carpal Tunnel Syndrome

PubMed Central

Rayegani, Seyed Mansoor; Bahrami, Mohammad Hasan; Eliaspour, Darisuh; Raeissadat, Seyed Ahmad; Shafi Tabar Samakoosh, Mostafa; Sedihgipour, Leyla; Kargozar, Elham

2013-01-01

Introduction: Carpal Tunnel Syndrome (CTS) is the most common type of entrapment neuropathy. Conservative therapy is usually considered as the first step in the management of CTS. Low Level Laser Therapy (LLLT) is among the new physical modalities, which has shown therapeutic effects in CTS. The aim of the present study was to compare the effects of applying LASER and splinting together with splinting alone in patients with CTS. Methods: Fifty patients with mild and moderate CTS who met inclusion criteria were included in this study. The disease was confirmed by electrodiagnostic study (EDx) and clinical findings. Patients were randomly divided into 3 groups. Group A received LLLT and splinting. Group B received sham LLLT+ splinting and group C received only splints. Group A received LLLT (50 mw and 880nm with total dose of 6 joule/cm2). Clinical and EDx parameters were evaluated before and after treatment (3 weeks and 2 months later). Results: Electrophysiologic parameters and clinical findings including CTS provocative tests, Symptoms severity score (SSS), Functional Severity Score (FSS) and Visual Analogue Score (VAS) were improved in all three groups at 3 weeks and 2 months after treatment. No significant changes were noticed between the three groups regarding clinical and EDX parameters. Conclusion: We found no superiority in applying Low Intensity Laser accompanying splinting to traditional treatment which means splinting alone in patients with CTS. However, future studies investigating LLLT with parameters other than the one used in this study may reveal different results in favor of LLLT. PMID:25606328

Skin rash in the intensive care unit: Stevens-Johnson syndrome, toxic epidermal necrolysis, or a rare manifestation of a hidden cutaneous malignancy: A case report.

PubMed

Al-Saffar, Farah; Ibrahim, Saif; Patel, Pujan; Jacob, Rafik; Palacio, Carlos; Cury, James

2016-03-01

Skin rashes are infrequently encountered in the intensive care units, either as a result or as a cause of admission. The entities of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) form a spectrum of desquamating skin diseases that have multiple etiologies, the most common being drug-related reactions; very rarely, the cause may be cutaneous malignancies. We herein present a unique case of a 54-year-old male patient with psoriasis treated with methotrexate, who presented with a cellulitis-like clinical picture, then developed a severe progressive systemic inflammatory response syndrome, and progressed clinically to SJS, then TEN even after discontinuing the antibiotics and methotrexate. A skin biopsy demonstrated an aggressive and rapidly-progressing T-cell lymphoma. The present case highlights the necessity of skin biopsy when encountering SJS and TEN in the ICU in order to identify potentially treatable/controllable causes. Although it appeared reasonable to correlate TEN solely to medications, the skin biopsies clearly demonstrated an aggressive T-cell skin lymphoma. In a patient with a better general condition it may have been helpful to treat this malignancy. TEN is a life-threatening condition and skin biopsy is the cornerstone of diagnosis, despite the presence of multiple risk factors and the typical physical findings of a drug-induced reaction.

[Chronic fatigue syndrome treated with transcutaneous electrical acupoint stimulation: a randomized controlled trial].

PubMed

Li, Jinxia; Xie, Jingjun; Pan, Zhongqiang; Guo, Xiaoqing; Li, Ye; Fu, Ruiyang

2017-12-12

To evaluate the clinical therapeutic effects and safety of chronic fatigue syndrome treated with transcutaneous electrical acupoint stimulation (TEAS) on the conception vessel and the governor vessel. Eighty-nine patients of chronic fatigue syndrome were randomized into an observation group (46 cases) and a control group (43 cases). In the observation group, TEAS was applied at Dazhui (GV 14) and Mingmen (GV 4), Shenque (CV 8) and Guanyuan (CV 4) [the current intensity: (14±2) mA]. In the control group, the simulated TEAS was applied at the same acupoints as the observation group (the current intensity: 1 mA). The treatment was given for 30 min, once a day, 5 times a week and the treatment of 4 weeks was as 1 session in the two groups. One session of treatment was required. Before treatment and at the end of 1 session of treatment, the fatigue severity scale (FSS) was adopted to evaluate the fatigue symptoms and the somatic and psychological health report (SPHERE) was adopted to evaluate the potential symptoms and observe the safety of TEAS therapy. At the end of treatment, FSS score and SPHERE score in the control group were not different significantly as compared with those before treatment (both P >0.05). FSS score and SPHERE score in the observation group were reduced significantly as compared with those before treatment (both P <0.01). FSS score and SPHERE score in the observation group were reduced apparently as compared with those in the control group (both P <0.001). In the entire process of treatment with TEAS, no any adverse reaction occurred. TEAS on the conception vessel and the governor vessel relieves fatigue symptoms and the potential symptoms in the patients of chronic fatigue syndrome. It is a safe therapy.

Ichthyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxia

PubMed Central

Dereksson, Kristjan; Kjartansson, Sveinn; Hjartardóttir, Hulda; Arngrimsson, Reynir

2012-01-01

Ichthyosis prematurity syndrome (IPS) is a rare inherited skin disorder. Children are born prematurely with thick skin and have been found to develop neonatal asphyxia due to occlusions in the bronchial tree from debris in the amniotic fluid. At 31 weeks of gestation, separation of amniotic and chorionic membranes was identified as well as polyhydramnion. The child was born 2 weeks later, with thickened skin with a granular appearance and required immediate ventilation and intensive care. At 2 years of age, the patient has developed an atopic skin condition with severe itching, recurrent skin infections, food intolerance and periods of wheezing. Prenatal observation of separation of foetal membranes or dense amniotic fluid may be signs of IPS and severe complication immediately after birth. PMID:22927265

Noonan syndrome.

PubMed

Bhambhani, Vikas; Muenke, Maximilian

2014-01-01

Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome-specific growth charts and treatment guidelines are available.

Placental expression of anti-angiogenic proteins in mirror syndrome: a case report.

PubMed

Graham, N; Garrod, A; Bullen, P; Heazell, A E P

2012-06-01

Mirror syndrome is a rare disorder in which fetal hydrops is associated with maternal oedema, proteinuria and hypertension. The aetiology of the maternal condition is unknown, but it is thought to be related to preeclampsia. Few descriptions exist of placental morphology in mirror syndrome, but placentomegaly is consistently observed. In this case placental morphology showed villous oedema and syncytial nuclear aggregates where villi were in direct contact. Immunoperoxidase staining for VEGFR1 and Endoglin was more intense in mirror syndrome compared to gestational-age matched controls,and at a similar level to a case of preeclampsia. Placentally-derived anti-angiogenic factors may be involved in the pathogenesis of mirror syndrome. Copyright © 2012 Elsevier Ltd. All rights reserved.

Treatment of metabolic syndrome.

PubMed

Wagh, Arati; Stone, Neil J

2004-03-01

The metabolic syndrome is intended to identify patients who have increased risk of diabetes and/or a cardiac event due to the deleterious effects of weight gain, sedentary lifestyle, and/or an atherogenic diet. The National Cholesterol Education Program's Adult Treatment Panel III definition uses easily measured clinical findings of increased abdominal circumference, elevated triglycerides, low high-density lipoprotein-cholesterol, elevated fasting blood glucose and/or elevated blood pressure. Three of these five are required for diagnosis. The authors also note that other definitions of metabolic syndrome focus more on insulin resistance and its key role in this syndrome. This review focuses on how treatment might affect each of the five components. Abdominal obesity can be treated with a variety of lower calorie diets along with regular exercise. Indeed, all of the five components of the metabolic syndrome are improved by even modest amounts of weight loss achieved with diet and exercise. For those with impaired fasting glucose tolerance, there is good evidence that a high fiber, low saturated fat diet with increased daily exercise can reduce the incidence of diabetes by almost 60%. Of note, subjects who exercise the most, gain the most benefit. Metformin has also been shown to be helpful in these subjects. Thiazolidinedione drugs may prove useful, but further studies are needed. Although intensified therapeutic lifestyle change will help the abnormal lipid profile, some patients may require drug therapy. This review also discusses the use of statins, fibrates, and niacin. Likewise, while hypertension in the metabolic syndrome benefits from therapeutic lifestyle change, physicians should also consider angiotensin converting enzyme inhibitor drugs or angiotensin receptor blockers, due to their effects on preventing complications of diabetes, such as progression of diabetic nephropathy and due to their effects on regression of left ventricular hypertrophy. Aspirin

Toxic shock syndrome in Australian children.

PubMed

Chen, Katherine Y H; Cheung, Michael; Burgner, David P; Curtis, Nigel

2016-08-01

There are limited data describing the epidemiology, management and outcomes of children with toxic shock syndrome (TSS), a potentially life-threatening illness. Here, we describe the incidence, clinical features, treatment and outcome of children with staphylococcal and streptococcal TSS in Victoria, Australia. Retrospective chart review of children admitted between 2003 and 2014 to two tertiary paediatric referral centres who fulfilled the Centers for Disease Control and Prevention case definition of TSS. There were 62 cases over the 11-year period; 43 staphylococcal TSS and 19 streptococcal TSS. The majority (46 (74%)) of cases were admitted to an intensive care unit and 44 (71%) required inotropic support. Compared with those with staphylococcal TSS, patients with streptococcal TSS were younger, more unwell and more likely to have residual morbidity. Adjunctive therapy with intravenous immunoglobulin or clindamycin was used in 58 (94%) of cases and fresh frozen plasma was used in 15 (24%). Seven patients received extracorporeal membrane oxygenation. All patients survived. This study highlights the importance of early recognition of TSS and supports rapid tertiary referral and intensive care management, which includes the use of adjunctive therapy with intravenous immunoglobulin and clindamycin. 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/

An artificial intelligence tool to predict fluid requirement in the intensive care unit: a proof-of-concept study.

PubMed

Celi, Leo Anthony; Hinske, L Christian; Alterovitz, Gil; Szolovits, Peter

2008-01-01

The goal of personalised medicine in the intensive care unit (ICU) is to predict which diagnostic tests, monitoring interventions and treatments translate to improved outcomes given the variation between patients. Unfortunately, processes such as gene transcription and drug metabolism are dynamic in the critically ill; that is, information obtained during static non-diseased conditions may have limited applicability. We propose an alternative way of personalising medicine in the ICU on a real-time basis using information derived from the application of artificial intelligence on a high-resolution database. Calculation of maintenance fluid requirement at the height of systemic inflammatory response was selected to investigate the feasibility of this approach. The Multi-parameter Intelligent Monitoring for Intensive Care II (MIMIC II) is a database of patients admitted to the Beth Israel Deaconess Medical Center ICU in Boston. Patients who were on vasopressors for more than six hours during the first 24 hours of admission were identified from the database. Demographic and physiological variables that might affect fluid requirement or reflect the intravascular volume during the first 24 hours in the ICU were extracted from the database. The outcome to be predicted is the total amount of fluid given during the second 24 hours in the ICU, including all the fluid boluses administered. We represented the variables by learning a Bayesian network from the underlying data. Using 10-fold cross-validation repeated 100 times, the accuracy of the model in predicting the outcome is 77.8%. The network generated has a threshold Bayes factor of seven representing the posterior probability of the model given the observed data. This Bayes factor translates into p < 0.05 assuming a Gaussian distribution of the variables. Based on the model, the probability that a patient would require a certain range of fluid on day two can be predicted. In the presence of a larger database, analysis

NOX2 protects against progressive lung injury and multiple organ dysfunction syndrome.

PubMed

Whitmore, Laura C; Goss, Kelli L; Newell, Elizabeth A; Hilkin, Brieanna M; Hook, Jessica S; Moreland, Jessica G

2014-07-01

Systemic inflammatory response syndrome (SIRS) is a common clinical condition in patients in intensive care units that can lead to complications, including multiple organ dysfunction syndrome (MODS). MODS carries a high mortality rate, and it is unclear why some patients resolve SIRS, whereas others develop MODS. Although oxidant stress has been implicated in the development of MODS, several recent studies have demonstrated a requirement for NADPH oxidase 2 (NOX2)-derived oxidants in limiting inflammation. We recently demonstrated that NOX2 protects against lung injury and mortality in a murine model of SIRS. In the present study, we investigated the role of NOX2-derived oxidants in the progression from SIRS to MODS. Using a murine model of sterile systemic inflammation, we observed significantly greater illness and subacute mortality in gp91(phox-/y) (NOX2-deficient) mice compared with wild-type mice. Cellular analysis revealed continued neutrophil recruitment to the peritoneum and lungs of the NOX2-deficient mice and altered activation states of both neutrophils and macrophages. Histological examination showed multiple organ pathology indicative of MODS in the NOX2-deficient mice, and several inflammatory cytokines were elevated in lungs of the NOX2-deficient mice. Overall, these data suggest that NOX2 function protects against the development of MODS and is required for normal resolution of systemic inflammation. Copyright © 2014 the American Physiological Society.

Impact of the 2013 American College of Cardiology/American Heart Association cholesterol guidelines on the prescription of high-intensity statins in patients hospitalized for acute coronary syndrome or stroke.

PubMed

Valentino, Michael; Al Danaf, Jad; Panakos, Andrew; Ragupathi, Loheetha; Duffy, Danielle; Whellan, David

2016-11-01

The 2013 American College of Cardiology/American Heart Association cholesterol management guidelines represented a paradigm shift from the National Cholesterol Education Program Adult Treatment Panel III guidelines, replacing low-density lipoprotein cholesterol targets with a risk assessment model to guide statin therapy. Our objectives are to compare provider prescription of high-intensity statin therapy in patients hospitalized with acute coronary syndrome (ACS) or cerebrovascular accident (CVA) before and after the publication of the 2013 cholesterol guidelines, determine potential predictors of high-intensity statin utilization, and identify targets for improvement in cardiovascular risk reduction among these high-risk populations. A single-center retrospective cohort study of 695 patients discharged with a diagnosis of ACS or CVA in the 6months before (n=359) and after (n=336) the release of the 2013 American College of Cardiology/American Heart Association cholesterol guidelines. Patient characteristics were compared using analysis of variance and χ 2 tests. Multivariable logistic regression models were used to assess clinical predictors of provider utilization of high-intensity statins. After the 2013 cholesterol guidelines, the rate of prescribing high-intensity statins was greater for statin-naïve patients compared with those already on statin therapy (odds ratio [OR]0.51, P=.02). Prescription of high-intensity statins was higher for patients with ACS compared with CVA (OR 8.4, P<.001-pre-2013 guidelines; OR 4.5, P<.001-post-2013 guidelines). Prescription of high-intensity statins steadily improved over the study period, significantly among patients with CVA (P<.001). Physicians were more likely to prescribe high-intensity statins in statin-naïve patients as compared with intensifying existing statin therapy, and their prescription pattern was lower after CVA vs ACS. Copyright © 2016 Elsevier Inc. All rights reserved.

A case of atypical McCune-Albright syndrome requiring optic nerve decompression.

PubMed

Yavuzer, R; Khilnani, R; Jackson, I T; Audet, B

1999-10-01

McCune-Albright syndrome (MAS) is a disease of noninheritable, genetic origin defined by the triad of café-au-lait pigmentation of the skin, precocious puberty, and polyostotic fibrous dysplasia. This syndrome, which affects young girls primarily, has also been reported with other endocrinopathies, and rarely with acromegaly and hyperprolactinemia. The fibrous dysplasia in MAS is of the polyostotic type and, apart from the characteristic sites such as the proximal aspects of the femur and the pelvis, the craniofacial region is frequently involved. A male patient with MAS presented with juvenile gigantism, precocious puberty, pituitary adenoma-secreting growth hormone and prolactin, hypothalamic pituitary gonadal and thyroid dysfunction, and polyostotic fibrous dysplasia causing optic nerve compression. Visual deterioration and its surgical management are presented.

Infectious Complications in Children With Acute Myeloid Leukemia and Down Syndrome: Analysis of the Prospective Multicenter Trial AML-BFM 2004.

PubMed

Hassler, Angela; Bochennek, Konrad; Gilfert, Julia; Perner, Corinna; Schöning, Stefan; Creutzig, Ursula; Reinhardt, Dirk; Lehrnbecher, Thomas

2016-06-01

Children with acute myeloid leukemia (AML) and Down syndrome have high survival rates with intensity-reduced chemotherapeutic regimens, although the optimal balance between dose intensity and treatment toxicity has not been determined. We, therefore, characterized infectious complications in children with AML and Down syndrome treated according to AML-BFM 2004 study (ClinicalTrials.gov NCT00111345; amended 2006 for Down syndrome with reduced intensity). Data on infectious complications were gathered from the medical records in the hospital where the patient was treated. Infectious complications were categorized as fever without identifiable source (FUO), or as microbiologically or clinically documented infections. A total of 157 infections occurred in 61 patients (60.5% FUO, 9.6% and 29.9% clinically and microbiologically documented infections, respectively). Almost 90% of the pathogens isolated from the bloodstream were Gram-positive bacteria, and approximately half of them were viridans group streptococci. All seven microbiologically documented episodes of pneumonia were caused by viruses. Infection-related mortality was 4.9%, and all three patients died due to viral infection. Our data demonstrate that a reduced-intensity chemotherapeutic regimen in children with AML and Down syndrome is still associated with high morbidity. Although no patient died due to bacteria or fungi, viruses were responsible for all lethal events. Future studies, therefore, have to focus on the impact of viruses on morbidity and mortality of patients with AML and Down syndrome. © 2016 Wiley Periodicals, Inc.

Guillain-Barré syndrome in pregnancy: A case report.

PubMed

Hukuimwe, Misai; Matsa, Tawanda T; Gidiri, Muchabayiwa F

2017-04-01

Guillain-Barré syndrome is a rare condition in pregnancy which is characterised by symmetrical progressive ascending polyneuropathy. A case of a 16-year-old nulliparous woman who presented with rapidly progressive limb paralysis following an upper respiratory tract infection a week prior to presentation is discussed. She was intubated as she had developed respiratory failure and managed in the intensive care unit by a multidisciplinary team. Plasma exchange and intravenous immunoglobulin were not readily available so she was managed conservatively. The management of Guillain-Barré syndrome, maternal and foetal outcomes have been discussed.

Study of Obstetric Admissions to the Intensive Care Unit of a Tertiary Care Hospital.

PubMed

Rathod, Ashakiran T; Malini, K V

2016-10-01

To analyze obstetric admissions to intensive care unit and to identify the risk factors responsible for intensive care admission. This is a retrospective study of all obstetric cases admitted to the intensive care unit over a period of 3 years. Data were collected from case records. The risk factors responsible for ICU admission were analyzed. There were 765 obstetric admissions to ICU accounting for 1.24 % of all deliveries. 56.20 % were in the age group of 20-25 years. 38.43 % were in their first pregnancy. 36.48 % of cases were at 37-40 weeks of gestation. Postpartum admissions were 80.91 %. Major conditions responsible were obstetric hemorrhage in 44.05 %, hypertensive disorders of pregnancy in 28.88 %, severe anemia in 14.37 %, heart disease in 12.15 %, and sepsis in 7.97 % of ICU cases. 40.39 % cases required high dependency care. Maternal mortality was seen in 15.55 % of ICU cases. Commonest cause of mortality was hemorrhagic shock (26.89 %) and multiorgan dysfunction syndrome (26.05 %). Commonest risk factors for ICU admissions are obstetric hemorrhage and hypertensive disorders of pregnancy. Other major risk factors are severe anemia, heart disease, sepsis, more than one diagnosis on admission, and the need for cesarean delivery.

Aerobic Exercise Training in Post-Polio Syndrome: Process Evaluation of a Randomized Controlled Trial.

PubMed

Voorn, Eric L; Koopman, Fieke S; Brehm, Merel A; Beelen, Anita; de Haan, Arnold; Gerrits, Karin H L; Nollet, Frans

2016-01-01

To explore reasons for the lack of efficacy of a high intensity aerobic exercise program in post-polio syndrome (PPS) on cardiorespiratory fitness by evaluating adherence to the training program and effects on muscle function. A process evaluation using data from an RCT. Forty-four severely fatigued individuals with PPS were randomized to exercise therapy (n = 22) or usual care (n = 22). Participants in the exercise group were instructed to exercise 3 times weekly for 4 months on a bicycle ergometer (60-70% heart rate reserve). The attendance rate was high (median 89%). None of the participants trained within the target heart rate range during >75% of the designated time. Instead, participants exercised at lower intensities, though still around the anaerobic threshold (AT) most of the time. Muscle function did not improve in the exercise group. Our results suggest that severely fatigued individuals with PPS cannot adhere to a high intensity aerobic exercise program on a cycle ergometer. Despite exercise intensities around the AT, lower extremity muscle function nor cardiorespiratory fitness improved. Improving the aerobic capacity in PPS is difficult through exercise primarily focusing on the lower extremities, and may require a more individualized approach, including the use of other large muscle groups instead. Netherlands National Trial Register NTR1371.

[Evaluation of the primary caregiver syndrome when caring for elderly adults with immobility syndrome].

PubMed

Morales-Cariño, Elizabeth María; Jiménez-Herrera, Blanca L; Serrano-Miranda, Tirzo A

2012-01-01

Caregiver syndrome may develop in caregivers of elderly adults. To evaluate the repercussions of the immobility syndrome present in elderly adults on their primary caregivers as well as to determine the clinical and socio-demographic characteristics of the elderly adult and caregiver. The study population included patients over 65 recruited in the Geriatric Rehabilitation Department, with the diagnosis of immobility syndrome and that required a primary caregiver. A questionnaire including socio-demographic variables was applied to all patients and caregivers, and the Zarit scale was also applied to caregivers in order to determine the presence of caregiver syndrome. Analysis was performed with descriptive statistical methods; Student's t test and Fisher's test were used for comparisons between strata. 75 patients and their caregivers were evaluated; patient average age was 75.9 years and 85.3% were female. 50.7% (38 cases) had mild immobility. The average caregiver's age was 50.6%, 70.7% were female and 57.3% were the patient's daughter. Caregiver syndrome was detected in 60% of them: 57.7% had mild symptoms and in 42.2%, symptoms were moderate to severe. No statistically significant association was established between the development of caregiver syndrome and the degree of patient immobility. Caregivers of patients with immobility syndrome are at high risk of developing caregiver syndrome, thus underscoring the need to include primary caregiver support programs.

[Seronin syndrome and cardiac arrest caused by high-dose moclobemide (case report)].

PubMed

Cekmen, N; Badalov, P; Erdemli, O

2008-01-01

Serotonin syndrome is the syndrome resulting from brain tissue serotonin accumulation and accompanying by central nervous system dysfunction and circulatory collapse, which leads to a serious mortal danger to life. A female patient aged 31 years, diagnosed as having chronic psychosis in the history, was admitted to an intensive care unit in a critical state for having taking an increased moclobemide dose. The patient developed cardiac arrest and cardiopulmonary resuscitation (CPR) was initiated. A 15-minute CPR recovered sinus rhythm and pulse on the peripheral arteries of the limbs. When consciousness and respiration improved, the patient was weaned from resuscitation and extubated on the second day. On day 4, the patient was transferred from the intensive care unit to the department of psychiatry. The authors consider that patients with overdosage of antipsychotic agents at a risk for such serious complications, such as cardiac arrest, should be necessarily monitored in the intensive care unit.

[Blue rubber bleb naevus syndrome].

PubMed

Akutko, Katarzyna; Krzesiek, Elzbieta; Iwańczak, Barbara

2012-10-01

Blue rubber bleb nevus syndrome (Bean syndrome) is a rare disease characterized by the presence of multiple vascular malformation of rubber-like consistence. This disease is of a genetic origin and most often is caused by sporadic mutation, however, exist reports on autosomal dominant type of heritance. Nevi are most frequently met in the skin and alimentary tract but may be present in all organs and tissues. The most frequent symptom of Bean syndrome is anaemia due to ferrum deficiency, which is a result of chronic hemorrhagia from vascular malformations in the alimentary tract. Vascular anomalies on the skin are usually asymptomatic. Other symptoms are less frequent and depend on the localisation of vascular changes and therefore patients with Bean syndrome require meticulous analysis of reported multiple - specialistic medical care.

ROHHAD Syndrome: The Girl who Forgets to Breathe.

PubMed

Sanklecha, Mukesh; Sundaresan, Suba; Udani, Vrajesh

2016-04-01

ROHHAD syndrome is an exceedingly rare cause of central hypoventilation. A 7-year-old girl with ROHHAD syndrome who had central hypoventilation, rapid weight gain, multiple cardiac arrests and hyperprolactinemia. She required prolonged and repeated ventilation, and finally died due to complications of ventilation. ROHHAD Syndrome should be suspected in any child who presents with obesity, behavioral changes or autonomic instability following a neural crest tumor.

Prevention and treatment of the metabolic syndrome in the elderly.

PubMed

Firdaus, Muhammad

2005-02-01

The metabolic syndrome is a term used to indicate the presence of a cluster of conditions associated with increased risk for type 2 diabetes, hypertension, coronary artery disease, stroke, and early mortality. A fairly common condition in the elderly, it is caused primarily by physical inactivity and excessive calorie intake and characterized by abdominal obesity, insulin resistance, impaired fasting glucose, dyslipidemia, and prehypertension. Numerous clinical trials have demonstrated that a lifestyle of moderate-intensity, physical activity for 30 minutes a day, most days of the week, combined with weight loss of 5-7%, can reverse individual components of the metabolic syndrome. When lifestyle modifications are insufficient, a multidrug regimen may be necessary to treat different components of the metabolic syndrome. This paper reviews current literature on the metabolic syndrome, including its causes, incidence and approaches for successful treatment.

Low-to-moderate intensity aerobic exercise training modulates irritable bowel syndrome through antioxidative and inflammatory mechanisms in women: Results of a randomized controlled trial.

PubMed

Hajizadeh Maleki, Behzad; Tartibian, Bakhtyar; Mooren, Frank C; FitzGerald, Leah Z; Krüger, Karsten; Chehrazi, Mohammad; Malandish, Abbas

2018-02-01

Our aim was to explore the putative beneficial effects of low-to-moderate intensity exercise training program in patients with irritable bowel syndrome (IBS). This study evaluated the changes in blood oxidative stress status, inflammatory biomarkers and IBS severity symptoms following 24 weeks of moderate aerobic exercise in sedentary IBS patients. A total of 109 female volunteers (aged 18-41 yrs) who fulfilled Rome III criteria for the diagnosis of IBS were screened and 60 were randomized to exercise (EX, n = 30) and non-exercise (NON-EX, n = 30) groups. Exercise intervention favorably attenuated inflammation as indicated by plasma cytokines (IL-1β, IL-6, IL-8, IL-10 and TNF-α), adenosine deaminase, oxidative stress (XO, MDA and NO) and enhanced antioxidants (SOD, CAT and GSH-Px) (P < .05), and these alterations correlate with promising improvements in IBS symptoms (P < .05). Taken together, low-to-moderate intensity exercise training program attenuates symptoms in IBS. Symptom improvement was associated with a reversal of the ratio of anti- to pro-inflammatory cytokines as well as facilitating blood redox homeostasis, suggesting an immune- and redox modulating function for exercise training. Copyright © 2017 Elsevier Ltd. All rights reserved.

Near demise of a child with Prader-Willi syndrome during elective orchidopexy.

PubMed

Mantadakis, Elpis; Spanaki, Anna-Maria; Geromarkaki, Elsa; Vassilaki, Efrosini; Briassoulis, George

2006-07-01

The case of a morbidly obese 3.5-year-old boy, with Prader-Willi syndrome (PWS), who experienced a life-threatening episode of pulmonary edema soon after induction of general anesthesia with sevoflurane and intubation for orchidopexy is presented. The patient who had history of sleep apnea and who had an uneventful laparoscopy under general anesthesia 6 months previously was supported with mechanical ventilation with positive end expiratory pressure but developed hyperthermia, pneumonia, sepsis, and Acute Respiratory Distress Syndrome in the intensive care unit. He recovered fully 11 days after surgery. The possible contributing factors for the development of pulmonary edema are discussed. Arrangements for monitoring in an intensive care setting after surgery are highly recommended for patients with PWS.

Acute Respiratory Distress Syndrome Secondary to Influenza A(H1N1)pdm09: Clinical Characteristics and Mortality Predictors.

PubMed

Hernández-Cárdenas, Carmen Margarita; Serna-Secundino, Héctor; García-Olazarán, José Guadalupe; Aguilar-Pérez, Cristina Leticia; Rocha-Machado, Jesús; Campos-Calderón, Luis Fernando; Lugo-Goytia, Gustavo

2016-01-01

Acute respiratory distress syndrome secondary to influenza A(H1N1)pdm09 virus is the leading cause of death among this patient population. Expanding the knowledge of its course and predictors of mortality is relevant to decision making. We aimed to describe the clinical characteristics and identify factors associated with mortality in patients with acute respiratory distress syndrome secondary to influenza A(H1N1)pdm09 during the 2013-2014 influenza season. This is an observational study of a prospective cohort of 70 patients with acute respiratory distress syndrome and influenza A(H1N1) pdm09 seen in an academic medical center. Multivariate logistic regression was used to identify the independent mortality predictors. Bootstrap was used for internal model validation. This cohort was represented by young adults (43 ± 11 years old). Obesity was present in 62.5% and was not associated with mortality. Mortality at 28 days and at discharge from the respiratory intensive care unit was 14 and 20%, respectively. All patients met the criteria for acute respiratory distress syndrome, 73% had vasodilatory shock, and 27.1% had acute kidney injury on respiratory intensive care unit admission. We observed a high incidence of intensive care unit-acquired weakness (81.4%). Ventilator-associated pneumonia developed in 47.1% and was not associated with mortality. In multivariate analysis, independent risk factors for intensive care unit mortality were age (odds ratio [OR] = 1.102), white blood cell count (OR = 1.22), and lactate dehydrogenase levels (OR = 1.004) on admission to the intensive care unit. We described the clinical characteristics and course of a cohort of patients with acute respiratory distress syndrome secondary to influenza A(H1N1)pdm09, and developed a predictive model of mortality based on the covariates age, levels of lactate dehydrogenase, and white cell count on admission to the respiratory intensive care unit.

Comparison of telomere length and association with progenitor cell markers in lacrimal gland between Sjögren syndrome and non-Sjögren syndrome dry eye patients

PubMed Central

Kawashima, Motoko; Maida, Yoshiko; Kamoi, Mizuka; Ogawa, Yoko; Shimmura, Shigeto; Masutomi, Kenkichi; Tsubota, Kazuo

2011-01-01

Purpose Indicators of aging such as disruption of telomeric function due to shortening may be more frequent in dysfunctional lacrimal gland. The aims of this study were to 1) determine the viability of quantitative fluorescence in situ hybridization of telomeres (telo-FISH) for the assessment of telomere length in lacrimal gland in Sjögren and non- Sjögren syndrome patients; and 2) investigate the relationship between progenitor cell markers and telomere length in both groups. Methods Quantitative fluorescence in situ hybridization with a peptide nucleic acid probe complementary to the telomere repeat sequence was performed on frozen sections from human lacrimal gland tissues. The mean fluorescence intensity of telomere spots was automatically quantified by image analysis as relative telomere length in lacrimal gland epithelial cells. Immunostaining for p63, nucleostemin, ATP-binding cassette, sub-family G, member 2 (ABCG2), and nestin was also performed. Results Telomere intensity in the Sjögren syndrome group (6,785.0±455) was significantly lower than that in the non-Sjögren syndrome group (7,494.7±477; p=0.02). Among the samples from the non-Sjögren syndrome group, immunostaining revealed that p63 was expressed in 1–3 acinar cells in each acinar unit and continuously in the basal layer of duct cells. In contrast, in the Sjögren syndrome group, p63 and nucleostemin showed a lower level of expression. ABCG2 was expressed in acinar cells in both sjogren and non-Sjogren syndrome. Conclusions The results of this study indicate that 1) telo-FISH is a viable method of assessing telomere length in lacrimal gland, and 2) telomere length in Sjögren syndrome is shorter and associated with lower levels of expression of p63 and nucleostemin than in non-Sjögren syndrome. PMID:21655359

Error-trellis Syndrome Decoding Techniques for Convolutional Codes

NASA Technical Reports Server (NTRS)

Reed, I. S.; Truong, T. K.

1984-01-01

An error-trellis syndrome decoding technique for convolutional codes is developed. This algorithm is then applied to the entire class of systematic convolutional codes and to the high-rate, Wyner-Ash convolutional codes. A special example of the one-error-correcting Wyner-Ash code, a rate 3/4 code, is treated. The error-trellis syndrome decoding method applied to this example shows in detail how much more efficient syndrome decoding is than Viterbi decoding if applied to the same problem. For standard Viterbi decoding, 64 states are required, whereas in the example only 7 states are needed. Also, within the 7 states required for decoding, many fewer transitions are needed between the states.

Error-trellis syndrome decoding techniques for convolutional codes

NASA Technical Reports Server (NTRS)

Reed, I. S.; Truong, T. K.

1985-01-01

An error-trellis syndrome decoding technique for convolutional codes is developed. This algorithm is then applied to the entire class of systematic convolutional codes and to the high-rate, Wyner-Ash convolutional codes. A special example of the one-error-correcting Wyner-Ash code, a rate 3/4 code, is treated. The error-trellis syndrome decoding method applied to this example shows in detail how much more efficient syndrome decordig is than Viterbi decoding if applied to the same problem. For standard Viterbi decoding, 64 states are required, whereas in the example only 7 states are needed. Also, within the 7 states required for decoding, many fewer transitions are needed between the states.

Burning mouth syndrome: an enigmatic disorder.

PubMed

Javali, M A

2013-01-01

Burning mouth syndrome (BMS) is a chronic oral pain or burning sensation affecting the oral mucosa, often unaccompanied by mucosal lesions or other evident clinical signs. It is observed principally in middle-aged patients and postmenopausal women and may be accompanied by xerostomia and altered taste. Burning mouth syndrome is characterized by an intense burning or stinging sensation, preferably on the tongue or in other areas of mouth. This disorder is one of the most common, encountered in the clinical practice. This condition is probably of multifactorial origin; however the exact underlying etiology remains uncertain. This article discusses several aspects of BMS, updates current knowledge about the etiopathogenesis and describes the clinical features as well as the diagnosis and management of BMS patients.

Seed germination and life history syndromes in the California chaparral

USGS Publications Warehouse

Keeley, J.E.

1991-01-01

Syndromes are life history responses that are correlated to environmental regimes and are shared by a group of species (Stebbins, 1974). In the California chaparral there are two syndromes contrasted by the timing of seedling recruitment relative to wildfires. One syndrome, here called the fire-recruiter or refractory seed syndrome, includes species (both resprouting and non-resprouting) which share the feature that the timing of seedling establishment is specialized to the first rainy season after fire. Included are woody, suffrutescent and annual life forms but no geophytes have this syndrome. These species are linked by the characteristic that their seeds have a dormancy which is readily broken by environmental stimuli such as intense heat shock or chemicals leached from charred wood. Such seeds are referred to as “refractory” and dormancy, in some cases, is due to seed coat impermeability (such seeds are commonly called hardseeded), but in other cases the mechanism is unknown. Seeds of some may require cold stratification and/or light in addition to fire related stimuli. In the absence of fire related cues, a portion or all of a species’ seed pool remains dormant. Most have locally dispersed seeds that persist in the soil seed bank until the site burns. Dispersal of propagules is largely during spring and summer which facilitates the avoidance of flowering and fruiting during the summer and fall drought. Within a life form (e.g., shrub, suffrutescent, etc.), the seeds of these species have less mass than those of species with non-refractory seeds and this possibly reflects the environmental favorableness of the postfire environment for seedling establishment. Regardless of when fire occurs, germination is normally delayed until late winter or early spring. In the absence of fire, or other disturbance, opportunities for population expansion are largely lacking for species with this syndrome. The other syndrome, here called the fire-resister or non

Restoration of MRI data for intensity non-uniformities using local high order intensity statistics

PubMed Central

Hadjidemetriou, Stathis; Studholme, Colin; Mueller, Susanne; Weiner, Michael; Schuff, Norbert

2008-01-01

MRI at high magnetic fields (>3.0 T) is complicated by strong inhomogeneous radio-frequency fields, sometimes termed the “bias field”. These lead to non-biological intensity non-uniformities across the image. They can complicate further image analysis such as registration and tissue segmentation. Existing methods for intensity uniformity restoration have been optimized for 1.5 T, but they are less effective for 3.0 T MRI, and not at all satisfactory for higher fields. Also, many of the existing restoration algorithms require a brain template or use a prior atlas, which can restrict their practicalities. In this study an effective intensity uniformity restoration algorithm has been developed based on non-parametric statistics of high order local intensity co-occurrences. These statistics are restored with a non-stationary Wiener filter. The algorithm also assumes a smooth non-uniformity and is stable. It does not require a prior atlas and is robust to variations in anatomy. In geriatric brain imaging it is robust to variations such as enlarged ventricles and low contrast to noise ratio. The co-occurrence statistics improve robustness to whole head images with pronounced non-uniformities present in high field acquisitions. Its significantly improved performance and lower time requirements have been demonstrated by comparing it to the very commonly used N3 algorithm on BrainWeb MR simulator images as well as on real 4 T human head images. PMID:18621568

Genetic counseling and cascade genetic testing in Lynch syndrome.

PubMed

Hampel, Heather

2016-07-01

Lynch syndrome is the most common cause of inherited colorectal and endometrial cancers. Individuals with Lynch syndrome have a 10-80 % lifetime risk for colorectal cancer and a 15-60 % lifetime risk for endometrial cancer. Both cancers are preventable through chemoprevention, intensive cancer surveillance, and risk-reducing surgery options. Efforts to identify as many individuals with Lynch syndrome as possible will prevent cancers and save lives. This includes the traditional cancer genetic counseling model whereby individuals with and without cancer are evaluated for a possible Lynch syndrome diagnosis based on their personal and family history of colon polyps and cancers. It also includes universal tumor screening for Lynch syndrome whereby all individuals with colorectal or endometrial cancer are screened for tumor features of Lynch syndrome at the time of diagnosis. Those with tumors suspicious for Lynch syndrome are referred for cancer genetic counseling regardless of their family history of cancer. This two approaches must be maximized to attain high patient reach. Finally, and perhaps most importantly, cascade testing among the at-risk relatives of those diagnosed with Lynch syndrome is critically important to maximize the diagnosis of individuals with Lynch syndrome. In fact, the cost-effectiveness of universal tumor screening for Lynch syndrome relies entirely on counseling and testing as many at-risk individuals as possible since young unaffected individuals stand to benefit the most from an early diagnosis of Lynch syndrome. This approach must be optimized to achieve high family reach. It will take a concerted effort from patients, clinicians and public health officials to improve current approaches to the diagnosis of Lynch syndrome and the prevention and treatment of Lynch syndrome-associated cancer but these lessons can be applied to other conditions as the ultimate example of personalized medicine.

[Cushing syndrome: Physiopathology, etiology and principles of therapy].

PubMed

Chabre, Olivier

2014-04-01

The most frequent cause of Cushing's syndrome is iatrogenic, as Cushing's syndrome is the unavoidable consequence of long-term glucocorticoid treatment using more than 7.5 mg prednisone per day. The most frequent cause of endogenous Cushing's syndrome is Cushing's disease (CD), which is an ACTH dependent hypercortisolism linked to a pituitary corticotroph adenoma. This adenoma is often very small, its diagnosis may require bilateral inferior petrosal sinus sampling and the first line treatment of CD is transsphenoidal surgery by an expert neurosurgeon. The second line treatments include drugs that can act either on the pituitary adenoma or on adrenal steroidogenesis, pituitary radiotherapy or bilateral adrenalectomy. Ectopic ACTH dependent Cushing's syndrome is linked either to poorly differentiated endocrine tumors with a very poor prognosis, such as small cell lung cancer, or to well differentiated endocrine tumors, such as bronchial carcinoid tumors, which have a good prognosis when treated by surgery, but may be very difficult to localize. Adrenal Cushing's syndromes, which are independent of pituitary ACTH secretion, include adrenal cortex carcinoma, which requires abdominal surgery with extended adrenalectomy by an expert surgeon, adrenal adenoma which is treated by laparoscopic unilateral adrenalectomy and bilateral macronodular hyperplasia, whose surgical treatment may require unilateral or bilateral adrenalectomy. Treatment of Cushing's syndrome generally leads to spectacular clinical results, which must not hide the fact that the reversibility of some signs is actually incomplete. This underlines the need for a timely multidisciplinary management of the patients by an expert team. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Informatics infrastructure for syndrome surveillance, decision support, reporting, and modeling of critical illness.

PubMed

Herasevich, Vitaly; Pickering, Brian W; Dong, Yue; Peters, Steve G; Gajic, Ognjen

2010-03-01

To develop and validate an informatics infrastructure for syndrome surveillance, decision support, reporting, and modeling of critical illness. Using open-schema data feeds imported from electronic medical records (EMRs), we developed a near-real-time relational database (Multidisciplinary Epidemiology and Translational Research in Intensive Care Data Mart). Imported data domains included physiologic monitoring, medication orders, laboratory and radiologic investigations, and physician and nursing notes. Open database connectivity supported the use of Boolean combinations of data that allowed authorized users to develop syndrome surveillance, decision support, and reporting (data "sniffers") routines. Random samples of database entries in each category were validated against corresponding independent manual reviews. The Multidisciplinary Epidemiology and Translational Research in Intensive Care Data Mart accommodates, on average, 15,000 admissions to the intensive care unit (ICU) per year and 200,000 vital records per day. Agreement between database entries and manual EMR audits was high for sex, mortality, and use of mechanical ventilation (kappa, 1.0 for all) and for age and laboratory and monitored data (Bland-Altman mean difference +/- SD, 1(0) for all). Agreement was lower for interpreted or calculated variables, such as specific syndrome diagnoses (kappa, 0.5 for acute lung injury), duration of ICU stay (mean difference +/- SD, 0.43+/-0.2), or duration of mechanical ventilation (mean difference +/- SD, 0.2+/-0.9). Extraction of essential ICU data from a hospital EMR into an open, integrative database facilitates process control, reporting, syndrome surveillance, decision support, and outcome research in the ICU.

Occurrence of refeeding syndrome in adults started on artificial nutrition support: prospective cohort study

PubMed Central

Rio, Alan; Whelan, Kevin; Goff, Louise; Reidlinger, Dianne Patricia; Smeeton, Nigel

2013-01-01

Background Refeeding syndrome is a potentially life-threatening condition characterised by severe intracellular electrolyte shifts, acute circulatory fluid overload and organ failure. The initial symptoms are non-specific but early clinical features are severely low-serum electrolyte concentrations of potassium, phosphate or magnesium. Risk factors for the syndrome include starvation, chronic alcoholism, anorexia nervosa and surgical interventions that require lengthy periods of fasting. The causes of the refeeding syndrome are excess or unbalanced enteral, parenteral or oral nutritional intake. Prevention of the syndrome includes identification of individuals at risk, controlled hypocaloric nutritional intake and supplementary electrolyte replacement. Objective To determine the occurrence of refeeding syndrome in adults commenced on artificial nutrition support. Design Prospective cohort study. Setting Large, single site university teaching hospital. Recruitment period 2007–2009. Participants 243 adults started on artificial nutrition support for the first time during that admission recruited from wards and intensive care. Main outcome measures Primary outcome: occurrence of the refeeding syndrome. Secondary outcome: analysis of the risk factors which predict the refeeding syndrome. Tertiary outcome: mortality due to refeeding syndrome and all-cause mortality. Results 133 participants had one or more of the following risk factors: body mass index <16–18.5≥(kg/m2), unintentional weight loss >15% in the preceding 3–6 months, very little or no nutritional intake >10 days, history of alcohol or drug abuse and low baseline levels of serum potassium, phosphate or magnesium prior to recruitment. Poor nutritional intake for more than 10 days, weight loss >15% prior to recruitment and low-serum magnesium level at baseline predicted the refeeding syndrome with a sensitivity of 66.7%: specificity was >80% apart from weight loss of >15% which was 59.1%. Baseline

Occurrence of refeeding syndrome in adults started on artificial nutrition support: prospective cohort study.

PubMed

Rio, Alan; Whelan, Kevin; Goff, Louise; Reidlinger, Dianne Patricia; Smeeton, Nigel

2013-01-11

Refeeding syndrome is a potentially life-threatening condition characterised by severe intracellular electrolyte shifts, acute circulatory fluid overload and organ failure. The initial symptoms are non-specific but early clinical features are severely low-serum electrolyte concentrations of potassium, phosphate or magnesium. Risk factors for the syndrome include starvation, chronic alcoholism, anorexia nervosa and surgical interventions that require lengthy periods of fasting. The causes of the refeeding syndrome are excess or unbalanced enteral, parenteral or oral nutritional intake. Prevention of the syndrome includes identification of individuals at risk, controlled hypocaloric nutritional intake and supplementary electrolyte replacement. To determine the occurrence of refeeding syndrome in adults commenced on artificial nutrition support. Prospective cohort study. Large, single site university teaching hospital. Recruitment period 2007-2009. 243 adults started on artificial nutrition support for the first time during that admission recruited from wards and intensive care. occurrence of the refeeding syndrome. Secondary outcome: analysis of the risk factors which predict the refeeding syndrome. Tertiary outcome: mortality due to refeeding syndrome and all-cause mortality. 133 participants had one or more of the following risk factors: body mass index <16-18.5≥(kg/m(2)), unintentional weight loss >15% in the preceding 3-6 months, very little or no nutritional intake >10 days, history of alcohol or drug abuse and low baseline levels of serum potassium, phosphate or magnesium prior to recruitment. Poor nutritional intake for more than 10 days, weight loss >15% prior to recruitment and low-serum magnesium level at baseline predicted the refeeding syndrome with a sensitivity of 66.7%: specificity was >80% apart from weight loss of >15% which was 59.1%. Baseline low-serum magnesium was an independent predictor of the refeeding syndrome (p=0.021). Three participants

Understanding COPD-overlap syndromes.

PubMed

Poh, Tuang Yeow; Mac Aogáin, Micheál; Chan, Adrian Kwok Wai; Yii, Anthony Chau Ang; Yong, Valerie Fei Lee; Tiew, Pei Yee; Koh, Mariko Siyue; Chotirmall, Sanjay Haresh

2017-04-01

Chronic obstructive pulmonary disease accounts for a large burden of lung disease. It can 'overlap' with other respiratory diseases including bronchiectasis, fibrosis and obstructive sleep apnea (OSA). While COPD alone confers morbidity and mortality, common features with contrasting clinical outcomes can occur in COPD 'overlap syndromes'. Areas covered: Given the large degree of heterogeneity in COPD, individual variation to treatment is adopted based on its observed phenotype, which in turn overlaps with features of other respiratory disease states such as asthma. This is coined asthma-COPD overlap syndrome ('ACOS'). Other examples of such overlapping clinical states include bronchiectasis-COPD ('BCOS'), fibrosis-COPD ('FCOS') and OSA-COPD ('OCOS'). The objective of this review is to highlight similarities and differences between the COPD-overlap syndromes in terms of risk factors, pathophysiology, diagnosis and potential treatment differences. Expert commentary: As a consequence of COPD overlap syndromes, a transition from the traditional 'one size fits all' treatment approach is necessary. Greater treatment stratification according to clinical phenotype using a precision medicine approach is now required. In this light, it is important to recognize and differentiate COPD overlap syndromes as distinct disease states compared to individual diseases such as asthma, COPD, fibrosis or bronchiectasis.

A multicenter study on Leigh syndrome: disease course and predictors of survival

PubMed Central

2014-01-01

Background Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation. Despite the fact that Leigh syndrome is the most common phenotype of mitochondrial disorders in children, longitudinal natural history data is missing. This study was undertaken to assess the phenotypic and genotypic spectrum of patients with Leigh syndrome, characterise the clinical course and identify predictors of survival in a large cohort of patients. Methods This is a retrospective study of patients with Leigh syndrome that have been followed at eight centers specialising in mitochondrial diseases in Europe; Gothenburg, Rotterdam, Helsinki, Copenhagen, Stockholm, Brussels, Bergen and Oulu. Results A total of 130 patients were included (78 males; 52 females), of whom 77 patients had identified pathogenic mutations. The median age of disease onset was 7 months, with 80.8% of patients presenting by the age of 2 years. The most common clinical features were abnormal motor findings, followed by abnormal ocular findings. Epileptic seizures were reported in 40% of patients. Approximately 44% of patients experienced acute exacerbations requiring hospitalisation during the previous year, mainly due to infections. The presence of pathological signs at birth and a history of epileptic seizures were associated with higher occurrence of acute exacerbations and/or relapses. Increased lactate in the cerebrospinal fluid was significantly correlated to a more severe disease course, characterised by early onset before 6 months of age, acute exacerbations and/or relapses, as well as brainstem involvement. 39% of patients had died by the age of 21 years, at a median age of 2.4 years. Disease onset before 6 months of age, failure to thrive, brainstem lesions on neuroimaging and intensive care treatment were significantly associated with poorer survival. Conclusions This is a multicenter study performed in a

A multicenter study on Leigh syndrome: disease course and predictors of survival.

PubMed

Sofou, Kalliopi; De Coo, Irenaeus F M; Isohanni, Pirjo; Ostergaard, Elsebet; Naess, Karin; De Meirleir, Linda; Tzoulis, Charalampos; Uusimaa, Johanna; De Angst, Isabell B; Lönnqvist, Tuula; Pihko, Helena; Mankinen, Katariina; Bindoff, Laurence A; Tulinius, Már; Darin, Niklas

2014-04-15

Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation. Despite the fact that Leigh syndrome is the most common phenotype of mitochondrial disorders in children, longitudinal natural history data is missing. This study was undertaken to assess the phenotypic and genotypic spectrum of patients with Leigh syndrome, characterise the clinical course and identify predictors of survival in a large cohort of patients. This is a retrospective study of patients with Leigh syndrome that have been followed at eight centers specialising in mitochondrial diseases in Europe; Gothenburg, Rotterdam, Helsinki, Copenhagen, Stockholm, Brussels, Bergen and Oulu. A total of 130 patients were included (78 males; 52 females), of whom 77 patients had identified pathogenic mutations. The median age of disease onset was 7 months, with 80.8% of patients presenting by the age of 2 years. The most common clinical features were abnormal motor findings, followed by abnormal ocular findings. Epileptic seizures were reported in 40% of patients. Approximately 44% of patients experienced acute exacerbations requiring hospitalisation during the previous year, mainly due to infections. The presence of pathological signs at birth and a history of epileptic seizures were associated with higher occurrence of acute exacerbations and/or relapses. Increased lactate in the cerebrospinal fluid was significantly correlated to a more severe disease course, characterised by early onset before 6 months of age, acute exacerbations and/or relapses, as well as brainstem involvement. 39% of patients had died by the age of 21 years, at a median age of 2.4 years. Disease onset before 6 months of age, failure to thrive, brainstem lesions on neuroimaging and intensive care treatment were significantly associated with poorer survival. This is a multicenter study performed in a large cohort of patients with Leigh syndrome

High prevalence of normal tests assessing hypercortisolism in subjects with mild and episodic Cushing's syndrome suggests that the paradigm for diagnosis and exclusion of Cushing's syndrome requires multiple testing.

PubMed

Friedman, T C; Ghods, D E; Shahinian, H K; Zachery, L; Shayesteh, N; Seasholtz, S; Zuckerbraun, E; Lee, M L; McCutcheon, I E

2010-11-01

Many Endocrinologists believe that a single determination of eucortisolism or a single demonstration of appropriate suppression to dexamethasone excluded Cushing's syndrome, except in what was previously thought to be the rare patient with episodic or periodic Cushing's syndrome. We hypothesize that episodic Cushing's syndrome is relatively common and a single test assessing hypercortisolism may not be sufficient to accurately rule out or diagnose Cushing's syndrome and retrospectively examined the number of normal and abnormal tests assessing hypercortisolism performed on multiple occasions in 66 patients found to have mild and/or episodic Cushing's syndrome compared to a similar group of 54 patients evaluated for, but determined not to have Cushing's syndrome. We found that 65 of the 66 patients with Cushing's syndrome had at least one normal test of cortisol status and most patients had several normal tests. The probability of having Cushing's syndrome when one test was negative was 92% for 23:00 h salivary cortisol, 88% for 24-h UFC, 86% for 24-h 17OHS, and 54% for nighttime plasma cortisol. These results demonstrated that episodic hypercortisolism is highly prevalent in subjects with mild Cushing's syndrome and no single test was effective in conclusively diagnosing or excluding the condition. Rather, the paradigm for the diagnosis should be a careful history and physical examination and in those patients in whom mild Cushing's syndrome/disease is strongly suspected, multiple tests assessing hypercortisolism should be performed on subsequent occasions, especially when the patient is experiencing signs and symptoms of short-term hypercortisolism. © Georg Thieme Verlag KG Stuttgart · New York.

[Postural tachycardia syndrome (PoTS): An up-to-date].

PubMed

Astudillo, L; Laure, A; Fabry, V; Pugnet, G; Maury, P; Labrunée, M; Sailler, L; Pavy-Le Traon, A

2018-06-13

Postural tachycardia syndrome (PoTS) is a multifactorial syndrome defined by an increase in heart rate ≥30bpm, within 10minutes of standing (or during a head up tilt test to at least 60°), in absence of orthostatic hypotension. It is associated with symptoms of cerebral hypoperfusion that are worse when upright and improve in supine position. Patients have an intense fatigue with a high incidence on quality of life. This syndrome can be explained by many pathophysiological mechanisms. It can be associated with Ehlers-Danlos disease and some autoimmune disorders. The treatment is based on nonpharmacological measures and treatment with propranolol, fludrocortisone or midodrine. Copyright © 2018 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.

Anserine syndrome.

PubMed

Helfenstein, Milton; Kuromoto, Jorge

2010-01-01

Knee pain is a common complaint in clinical practice, and pes anserinus tendino-bursitis syndrome (PATB) has been frequently diagnosed based only on clinical features that may cause equivocal interpretations. Patients complain of characteristic spontaneous medial knee pain with tenderness in the inferomedial aspect of the joint. Studies with different imaging modalities have been undertaken during the last years to identify whether these patients suffer from bursitis, tendinitis, or both. Nevertheless, little is known regarding the structural defect responsible for this disturbance. Due to these problems and some controversies, we suggest the term "anserine syndrome" for this condition. Diabetes Mellitus is a known predisposing factor for this syndrome. Overweight and osteoarthritis seem to represent additional risk factors; however, their role in the pathophysiology of the disease is not yet understood. Treatment includes non-steroidal anti-inflammatory drugs, physiotherapy, and injections of corticosteroid, with highly variable responses, from 10 days to 36 months to achieve recovery. The lack of knowledge about its epidemiological, etiological, and pathophysiological aspects requires future studies for this common and intriguing disorder.

Severe scombroid fish poisoning syndrome requiring aggressive fluid resuscitation in the emergency department: two case reports.

PubMed

Iannuzzi, M; D'Ignazio, N; Bressy, L; De Sio, A

2007-09-01

Scombroid fish poisoning (scombrotoxism, scombroid ichthyotoxicosis) is a food-related illness typically associated with the consumption of dark and white meat fish. Two patients presented to the emergency department. Metilprednisone 1000 mg and ranitidine 150 mg were administered initially. A large amount of crystalloids and colloids in in combination with vasoactive drugs were required to maintain normopressure. Levels of histamine and N-methylhistamine were far above the normal mean. Carboxyhemoglobin levels were also tested to exclude a superimposition of carbon monoxide intoxication. In both cases, major symptoms occurred and were treated aggressively. Early goal directed fluid therapy corrected the DO2/VO2 unbalance, due to a distributive pattern of hypovolemic impending shock, and permitted a rapid stabilisation of both patients. It is important to recognize the syndrome as an intoxication (rather than an allergic reaction) so that the source of the toxin can be identified and further cases prevented. It is also important to investigate where the fish was cooked (i.e. in an open space vs. closed space), to exclude the possibility of a concomitant carbon monoxide intoxication, which would require transfer the patient to a hospital facility equipped with a hyperbaric chamber.

An artificial intelligence tool to predict fluid requirement in the intensive care unit: a proof-of-concept study

PubMed Central

Celi, Leo Anthony; Hinske, L Christian; Alterovitz, Gil; Szolovits, Peter

2008-01-01

Introduction The goal of personalised medicine in the intensive care unit (ICU) is to predict which diagnostic tests, monitoring interventions and treatments translate to improved outcomes given the variation between patients. Unfortunately, processes such as gene transcription and drug metabolism are dynamic in the critically ill; that is, information obtained during static non-diseased conditions may have limited applicability. We propose an alternative way of personalising medicine in the ICU on a real-time basis using information derived from the application of artificial intelligence on a high-resolution database. Calculation of maintenance fluid requirement at the height of systemic inflammatory response was selected to investigate the feasibility of this approach. Methods The Multi-parameter Intelligent Monitoring for Intensive Care II (MIMIC II) is a database of patients admitted to the Beth Israel Deaconess Medical Center ICU in Boston. Patients who were on vasopressors for more than six hours during the first 24 hours of admission were identified from the database. Demographic and physiological variables that might affect fluid requirement or reflect the intravascular volume during the first 24 hours in the ICU were extracted from the database. The outcome to be predicted is the total amount of fluid given during the second 24 hours in the ICU, including all the fluid boluses administered. Results We represented the variables by learning a Bayesian network from the underlying data. Using 10-fold cross-validation repeated 100 times, the accuracy of the model in predicting the outcome is 77.8%. The network generated has a threshold Bayes factor of seven representing the posterior probability of the model given the observed data. This Bayes factor translates into p < 0.05 assuming a Gaussian distribution of the variables. Conclusions Based on the model, the probability that a patient would require a certain range of fluid on day two can be predicted. In the

Genetic, chromosomal, and syndromic causes of neural tube defects.

PubMed

Seidahmed, Mohammed Z; Abdelbasit, Omer B; Shaheed, Meeralebbae M; Alhussein, Khalid A; Miqdad, Abeer M; Samadi, Abdulmohsen S; Khalil, Mohammed I; Al-Mardawi, Elham; Salih, Mustafa A

2014-12-01

To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data. Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies. There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions.

[Locomotive syndrome and frailty. Lumbar canal stenosis as an underlying disorder in the locomotive syndrome].

PubMed

Sakai, Yoshihito

2012-04-01

Lumbar canal stenosis most commonly affects the elderly population by entrapment of the cauda equine roots surrounding the spinal canal often associated with pain in the back and lower extremities, difficulty ambulating. The locomotive syndrome refers to high-risk conditions under requiring care services, and lumbar canal stenosis is an important underlying disease. As one of the key capacities of frailty identified muscluloskeletal function, the locomotive syndrome is considered to musculoskeletal frail syndrome. Surgical treatment should be recommended to take the pressure off the nerves in the lumbar spine when the conservative treatments failed, and several studies revealed that the surgery generally resulted in a preferable outcome in the lumbar canal stenosis patients. Among lumbar canal stenosis patients treated with surgery, locomotive syndrome was contained 44% and many of which were seen in thin females. The patients with locomotive syndrome had lower muscle volume both in the extremities and the trunk than those without locomotive syndrome, and surgical results were poorer in the activity of daily life whereas the pain relief was adequately obtained. Treatment of the lumbar canal stenosis should be attended to locomotive frailty, and muscle strengthening training should be incorporated into pre and postoperative therapy.

Somatic syndromes and chronic pain in women with overactive bladder

PubMed Central

Reynolds, W. Stuart; Mock, Stephen; Zhang, Xuechao; Kaufman, Melissa; Wein, Alan; Bruehl, Stephen; Dmochowski, Roger

2016-01-01

Aims Mechanisms underlying pain perception and afferent hypersensitivity, such as central sensitization, may impact overactive bladder (OAB) symptoms. However, little is known about associations between OAB symptom severity, pain experience, and presence of comorbid chronic pain syndromes. This study examined relationships between OAB symptoms, somatic symptoms, and specific chronic pain conditions in which central sensitization is believed to play a primary role, in a community-based sample of adult women with OAB Methods We recruited adult women with OAB to complete questionnaires assessing urinary symptoms, pain and somatic symptoms, and preexisting diagnoses of central sensitivity syndromes. We analyzed the effects of overall bodily pain intensity, general somatic symptoms, and diagnoses of central sensitivity syndromes on OAB symptom bother and health-related quality of life. Results Of the 116 women in this study, over half (54%) stated their urge to urinate was associated with pain, pressure, or discomfort. Participants reported a wide range of OAB symptoms and health-related quality of life. There was a significant, positive correlation between OAB symptoms and somatic symptoms as well as overall pain intensity. Only 7% of women met diagnostic criteria for fibromyalgia; yet these women demonstrated significantly increased OAB symptom burden and decreased OAB quality of life compared to those without fibromyalgia. Conclusion Women with more severe OAB symptoms reported increased general somatic symptom burden and increased overall body pain intensity, especially women with fibromyalgia. These findings suggest that attributes of pain and co-morbidity with chronic pain conditions may impact the experience of OAB symptoms for many women. PMID:27367486

Guillain-Barré syndrome in pregnancy: A case report

PubMed Central

Hukuimwe, Misai; Matsa, Tawanda T; Gidiri, Muchabayiwa F

2017-01-01

Guillain-Barré syndrome is a rare condition in pregnancy which is characterised by symmetrical progressive ascending polyneuropathy. A case of a 16-year-old nulliparous woman who presented with rapidly progressive limb paralysis following an upper respiratory tract infection a week prior to presentation is discussed. She was intubated as she had developed respiratory failure and managed in the intensive care unit by a multidisciplinary team. Plasma exchange and intravenous immunoglobulin were not readily available so she was managed conservatively. The management of Guillain-Barré syndrome, maternal and foetal outcomes have been discussed. PMID:28438080

[Wernicke-Korsakoff syndrome].

PubMed

Kotov, S V; Lobakov, A I; Isakova, E V; Stashuk, G A; Volchenkova, T V

To study the diagnosis and treatment of non-alcoholic Wernicke-Korsakoff syndrome (WKS). Eight patients (5 men and 3 women), mean age 38,9±1,4 years, with WKS developed due to acute gastrointestinal tract (GIT) disease (3 patients), the exacerbation of chronic GIT disease with malabsorption (2 patients) and after surgery on the upper GIT (3 patients) were included in the study. The disease manifested with consciousness disturbance, symptoms of ataxia, eye movement disorders and bulbar syndrome that developed after 24-48 h. Treatment resistant tonic-clonic seizures were developed in 1 patient. MRI revealed hyper intensive signals on T2-weighted images in the hypothalamus, mamillar bodies, brain stem, hippocampus as well as contrast accumulation in the mamillar bodies. Treatment with vitamin B complex (neurobion) and thiamine exerted a positive effect. Patients with GIT disease with malabsorption are at risk of WKS. Consciousness disturbance, symptoms of ataxia, eye movement disorders indicate the necessity of treatment with thiamine that allows to prevent the development of stable cognitive deficit.

Engineering Safety- and Security-Related Requirements for Software-Intensive Systems

DTIC Science & Technology

2010-04-27

Requirements Negative (shall not) Requirements Hardware Requirements equ remen s System / Documentation Requirements eve oper Requirements Operational ...Validation Actual / Proposed Defensibility C li Operational Vulnerability Analysis VulnerabilityVulnerability Safety Vulnerability performs System ...including suggestions for reducing this burden, to Washington Headquarters Services, Directorate for Information Operations and Reports, 1215 Jefferson

14 CFR 29.1389 - Position light distribution and intensities.

Code of Federal Regulations, 2010 CFR

2010-01-01

... terms of minimum intensities in the horizontal plane, minimum intensities in any vertical plane, and... requirements: (1) Intensities in the horizontal plane. Each intensity in the horizontal plane (the plane containing the longitudinal axis of the rotorcraft and perpendicular to the plane of symmetry of the...

Hallucinations Experienced by Visually Impaired: Charles Bonnet Syndrome.

PubMed

Pang, Linda

2016-12-01

: Charles Bonnet Syndrome is a condition where visual hallucinations occur as a result of damage along the visual pathway. Patients with Charles Bonnet Syndrome maintain partial or full insight that the hallucinations are not real, absence of psychological conditions, and absence of hallucinations affecting other sensory modalities, while maintaining intact intellectual functioning. Charles Bonnet Syndrome has been well documented in neurologic, geriatric medicine, and psychiatric literature, but there is lack of information in optometric and ophthalmologic literature. Therefore, increased awareness of signs and symptoms associated with Charles Bonnet Syndrome is required among practicing clinicians. This review of the literature will also identify other etiologies of visual hallucinations, pathophysiology of Charles Bonnet Syndrome, and effective management strategies.

Hallucinations Experienced by Visually Impaired: Charles Bonnet Syndrome

PubMed Central

Pang, Linda

2016-01-01

ABSTRACT Charles Bonnet Syndrome is a condition where visual hallucinations occur as a result of damage along the visual pathway. Patients with Charles Bonnet Syndrome maintain partial or full insight that the hallucinations are not real, absence of psychological conditions, and absence of hallucinations affecting other sensory modalities, while maintaining intact intellectual functioning. Charles Bonnet Syndrome has been well documented in neurologic, geriatric medicine, and psychiatric literature, but there is lack of information in optometric and ophthalmologic literature. Therefore, increased awareness of signs and symptoms associated with Charles Bonnet Syndrome is required among practicing clinicians. This review of the literature will also identify other etiologies of visual hallucinations, pathophysiology of Charles Bonnet Syndrome, and effective management strategies. PMID:27529611

Involuntary craniofacial lingual movements in intensive care-acquired quadriplegia.

PubMed

Cartagena, A M; Jog, M; Young, G B

2012-02-01

The syndrome of involuntary craniofacial lingual movements in the setting of acute intensive care-acquired quadriplegia (critical illness neuromyopathy) following sepsis-associated encephalopathy has not been previously described. We suggest a localization and treatment for this disabling condition. Three patients (2 female) from our center were quadriplegic from critical illness neuromyopathy when they developed involuntary craniofacial lingual movements following sepsis-associated encephalopathy. Extensive investigations failed to identify an etiology for the abnormal movements. Movements were of large amplitude, of moderate speed, and semi-rhythmic in the jaw, tongue, and palate, persistent and extremely bothersome to all patients. Injection with Botulinum toxin type A was very beneficial. Involuntary craniofacial lingual movements in the setting of flaccid quadriplegia following sepsis-associated encephalopathy are consistent with focal craniofacial brainstem myoclonus and constitutes a new syndrome. Botulinum toxin type A treatment maybe helpful in treatment.

One-stage sequential bilateral thoracic expansion for asphyxiating thoracic dystrophy (Jeune syndrome).

PubMed

Muthialu, Nagarajan; Mussa, Shafi; Owens, Catherine M; Bulstrode, Neil; Elliott, Martin J

2014-10-01

Jeune syndrome (asphyxiating thoracic dystrophy) is a rare disorder characterized by skeletal dysplasia, reduced diameter of the thoracic cage and extrathoracic organ involvement. Fatal, early respiratory insufficiency may occur. Two-stage lateral thoracic expansion has been reported, addressing each side sequentially over 3-12 months. While staged repair theoretically provides less invasive surgery in a small child with respiratory distress, we utilized a single stage, bilateral procedure aiming to rapidly maximize lung development. Combined bilateral surgery also offered the chance of rapid recovery, and reduced hospital stay. We present our early experience of this modification of existing surgical treatment for an extremely rare condition, thought to be generally fatal in early childhood. Nine children (6 males, 3 females; median age 30 months [3.5-75]) underwent thoracic expansion for Jeune syndrome in our centre. All patients required preoperative respiratory support (5 with tracheostomy, 8 requiring positive pressure ventilation regularly within each day/night cycle). Two children underwent sequential unilateral (2-month interval between stages) and 7 children bilateral thoracic expansion by means of staggered osteotomies of third to eighth ribs and plate fixation of fourth to fifth rib and sixth to seventh rib, leaving the remaining ribs floating. There was no operative mortality. There were 2 deaths within 3 months of surgery, due to pulmonary hypertension (1 following two-stage and 1 following single-stage thoracic expansion). At the median follow-up of 11 months (1-15), 3 children have been discharged home from their referring unit and 2 have significantly reduced respiratory support. One child remains on non-invasive ventilation and another is still ventilated with a high oxygen requirement. Jeune syndrome is a difficult condition to manage, but bilateral thoracic expansion offers an effective reduction in ventilator requirements in these children

[Chronicle myeloid leukemia and hiperviscosity syndrome: case report].

PubMed

Amâncio, Juliana; Scuro, Gisele; Gazoni, Fernanda Martins; Guimarães, Hélio Penna; Vendrame, Letícia Sandre; Lopes, Renato Delascio; Lopes, Antônio Carlos

2008-03-01

Hyperleukocytosis (> 100 x 10(9)/L) is an uncommon presentation of chronic leukemias and it can present clinical symptoms of hyperviscosity syndrome. Hearing loss and blindness rarely occurs in patients with leukemia; however, it can be strong association with hyper-viscosity syndrome. The purpose of this paper is to report a case of acute hearing loss as the initial manifestation of acute leukemia and hyper-viscosity syndrome and also mainly aspects of the intensive care treatment. A 41 year-old, male patient, who has been complaining about dizziness for six months with no response to symptomatic medications, was admitted to the emergency department with acute hearing loss. The physical examination was normal except for a bilateral hearing loss without an apparent cause. Laboratory exams showed total leukocyte: 645.000 with 66.4% blasts, hemoglobin: 7.0, hematocrit: 20.5, urea: 94, creatinine: 1.59, K: 5.6, Na: 138, INR: 1.38, TTPa: 0.89, troponin lower than 0.2, CK: 218, CKMB: 50, uric acid: 11.1. After a first hypothesis of leukemia with a high risk of hyper-viscosity complications, the patient was admitted to the Intensive Care Unit for monitoring and treatment. A bone marrow biopsy was performed and than started hidratation, hydroxyurea, allopurinol, dexamethasone. According to hematologists the patient had a chronic myeloid leukemia. Leukopheresis was performed one week after admission when total blood leukocytes were around 488.000. Ten days after the procedure the patient had no improvement of the hearing loss but total leukocytes were 10.100. He was discharge to the ward and 2 weeks later went home to continue ambulatory treatment. The frequency of sensitive manifestations in patients with leukemia include not only visual and hearing loss but also many others manifestations such as conductive vertigo, facial palsy and infections. Hyperviscosity syndrome due to hyperleukocytosis is also a possible cause of sensorial loss, but the syndrome is often dependent

Bilateral widespread mechanical pain sensitivity in carpal tunnel syndrome: evidence of central processing in unilateral neuropathy.

PubMed

Fernández-de-las-Peñas, César; de la Llave-Rincón, Ana Isabel; Fernández-Carnero, Josué; Cuadrado, María Luz; Arendt-Nielsen, Lars; Pareja, Juan A

2009-06-01

The aim of this study was to investigate whether bilateral widespread pressure hypersensitivity exists in patients with unilateral carpal tunnel syndrome. A total of 20 females with carpal tunnel syndrome (aged 22-60 years), and 20 healthy matched females (aged 21-60 years old) were recruited. Pressure pain thresholds were assessed bilaterally over median, ulnar, and radial nerve trunks, the C5-C6 zygapophyseal joint, the carpal tunnel and the tibialis anterior muscle in a blinded design. The results showed that pressure pain threshold levels were significantly decreased bilaterally over the median, ulnar, and radial nerve trunks, the carpal tunnel, the C5-C6 zygapophyseal joint, and the tibialis anterior muscle in patients with unilateral carpal tunnel syndrome as compared to healthy controls (all, P < 0.001). Pressure pain threshold was negatively correlated to both hand pain intensity and duration of symptoms (all, P < 0.001). Our findings revealed bilateral widespread pressure hypersensitivity in subjects with carpal tunnel syndrome, which suggest that widespread central sensitization is involved in patients with unilateral carpal tunnel syndrome. The generalized decrease in pressure pain thresholds associated with pain intensity and duration of symptoms supports a role of the peripheral drive to initiate and maintain central sensitization. Nevertheless, both central and peripheral sensitization mechanisms are probably involved at the same time in carpal tunnel syndrome.

Overgrowth syndromes with vascular anomalies.

PubMed

Blei, Francine

2015-04-01

Overgrowth syndromes with vascular anomalies encompass entities with a vascular anomaly as the predominant feature vs those syndromes with predominant somatic overgrowth and a vascular anomaly as a more minor component. The focus of this article is to categorize these syndromes phenotypically, including updated clinical criteria, radiologic features, evaluation, management issues, pathophysiology, and genetic information. A literature review was conducted in PubMed using key words "overgrowth syndromes and vascular anomalies" as well as specific literature reviews for each entity and supportive genetic information (e.g., somatic mosaicism). Additional searches in OMIM and Gene Reviews were conducted for each syndrome. Disease entities were categorized by predominant clinical features, known genetic information, and putative affected signaling pathway. Overgrowth syndromes with vascular anomalies are a heterogeneous group of disorders, often with variable clinical expression, due to germline or somatic mutations. Overgrowth can be focal (e.g., macrocephaly) or generalized, often asymmetrically (and/or mosaically) distributed. All germ layers may be affected, and the abnormalities may be progressive. Patients with overgrowth syndromes may be at an increased risk for malignancies. Practitioners should be attentive to patients having syndromes with overgrowth and vascular defects. These patients require proactive evaluation, referral to appropriate specialists, and in some cases, early monitoring for potential malignancies. Progress in identifying vascular anomaly-related overgrowth syndromes and their genetic etiology has been robust in the past decade and is contributing to genetically based prenatal diagnosis and new therapies targeting the putative causative genetic mutations. Copyright © 2015 Mosby, Inc. All rights reserved.

[Obesity and metabolic syndrome in adolescents].

PubMed

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

2009-03-01

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

Auditory Brainstem Responses in Young Adults with Down Syndrome.

ERIC Educational Resources Information Center

Widen, Judith E.; And Others

1987-01-01

In a study of 15 individuals (ages 15-21) with Down Syndrome, auditory brainstem response (ABR) detection levels were elevated, response amplitude reduced, and latency-intensity functions were significantly steeper than for a matched control group. Findings were associated with an impairment in hearing sensitivity at 8000 Hz for the experimental…

Bilateral cataract formation via acute spontaneous fracture of the lens following treatment of hyperglycemic hyperosmolar syndrome.

PubMed

Sychev, Yevgeniy V; Zepeda, Emily M; Lam, Deborah L

2017-09-01

Acute development of cataracts that may be transient is known to occur during correction of diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome. Nettleship in 1885 was the first to describe the presence of a transient cataract in three diabetic patients that grew worse and eventually cleared with treatment. 1 We present a case of irreversible cataracts formed by nuclear fracture of the crystalline lens after hyperglycemia correction, an entity that has not yet been described. A 67 year-old Caucasian man presented with sudden bilateral vision loss one week after a week-long hospitalization in the intensive care unit for correction of hyperglycemia in the setting of hyperglycemic hyperosmolar syndrome requiring an insulin drip. This was caused by spontaneous fractures of the lens nuclei causing bilateral irreversible cataracts. The patient underwent uncomplicated bilateral cataract extraction resulting in restoration of normal vision. Acute transient cataracts that develop during correction of hyperglycemic hyperosmolar syndrome are thought to result from osmotic lens swelling. In this case report, internal fracture of the lens was produced by mechanical forces generated in the process of lens swelling occurring as a consequence of initial hyperglycemia and its subsequent correction. This case represents a rare ocular complication of hyperglycemia correction, and provides new evidence that mechanical forces can be part of diabetic cataractogenesis.

The association between self-reported exercise intensity and acute coronary syndrome in emergency department chest pain patients.

PubMed

Singer, Adam J; Thode, Henry C; Peacock, W Frank; Hollander, Judd E; Diercks, Deborah; Birkhahn, Robert; Shapiro, Nathan; Glynn, Ted; Nowack, Richard; Safdar, Basmah; Miller, Chadwick; Lewandrowski, Elizabeth; Nagurney, John

2013-01-01

Regular exercise is thought to be protective against coronary artery disease. As a result, some physicians believe that the likelihood of acute coronary syndrome (ACS) in patients with acute chest pain is reduced in those who exercise regularly. We studied the association between self-reported frequency of exercising and the likelihood of ACS in patients presenting to the Emergency Department (ED) with chest pain. A multi-center prospective, descriptive, cohort study design was used in ED patients to determine whether the risk of ACS was reduced in patients who self-reported regular exercise. There were 1093 patients enrolled. Median (interquartile range) age was 57 (48-67) years; 506 (45.7%) were female. ACS was diagnosed in 248 (22.7%) patients. Patients who did not exercise at least monthly were more likely to be diagnosed with ACS than those who did (129/466 [27.7%] vs. 119/627 [19.0%]; odds ratio 1.63, 95% CI 1.23-2.17). After adjusting for age, gender, body mass index, smoking, and prior history, limited exercise was still associated with ACS (adjusted odds ratio 1.52, 95% CI 1.10-2.10). There was no apparent association between frequency and intensity of exercise and risk of ACS. Although self-reported frequency of exercise was significantly associated with a decrease in ACS in ED patients with chest pain, it should not be used to exclude ACS in symptomatic ED patients. Copyright © 2013 Elsevier Inc. All rights reserved.

Renal perfusion index reflects cardiac systolic function in chronic cardio-renal syndrome.

PubMed

Lubas, Arkadiusz; Ryczek, Robert; Kade, Grzegorz; Niemczyk, Stanisław

2015-04-17

Cardiac dysfunction can modify renal perfusion, which is crucial to maintain sufficient kidney tissue oxygenation. Renal cortex perfusion assessed by dynamic ultrasound method is related both to renal function and cardiac hemodynamics. The aim of the study was to test the hypothesis that Renal Perfusion Index (RPI) can more closely reflect cardiac hemodynamics and differentiate etiology of chronic cardio-renal syndrome. Twenty-four patients with hypertension and chronic kidney disease (CKD) at 2-4 stage (12 with hypertensive nephropathy and 12 with CKD prior to hypertension) were enrolled in the study. Blood tests, 24-h ABPM, echocardiography, and ultrasonography with estimation of Total renal Cortical Perfusion intensity and Renal Perfusion Index (RPI) were performed. In the group of all patients, RPI correlated with left ventricular stoke volume (LVSV), and cardiac index, but not with markers of renal function. In multiple stepwise regression analysis CKD-EPI(Cys-Cr) (b=-0.360), LVSV (b=0.924) and MAP (b=0.376) together independently influenced RPI (R2=0.74; p<0.0001). RPI<0.567 allowed for the identification of patients with chronic cardio-renal syndrome with sensitivity of 41.7% and specificity of 83.3%. Renal perfusion index relates more strongly to cardiac output than to renal function, and could be helpful in recognizing chronic cardio-renal syndrome. Applicability of RPI in diagnosing early abnormalities in the cardio-renal axis requires further investigation.

Cardiovascular risk factors associated with the metabolic syndrome are more prevalent in people reporting chronic pain: results from a cross-sectional general population study.

PubMed

Goodson, Nicola J; Smith, Blair H; Hocking, Lynne J; McGilchrist, Mark M; Dominiczak, Anna F; Morris, Andrew; Porteous, David J; Goebel, Andreas

2013-09-01

To explore whether chronic pain is associated with cardiovascular risk factors and identify whether increased distribution or intensity of pain is associated with cardiovascular risk, participants in Generation Scotland: The Scottish Family Health study completed pain questionnaires recording the following: presence of chronic pain, distribution of pain, and intensity of chronic pain. Blood pressure, lipids, blood glucose, smoking history, waist-hip ratio, and body mass index were recorded; Framingham 10-year coronary heart disease (CHD) risk scores were calculated and a diagnosis of metabolic syndrome derived. Associations between chronic pain and cardiovascular risk were explored. Of 13,328 participants, 1100 (8.3%) had high CHD risk. Chronic pain was reported by 5209 (39%), 1294 (9.7%) reported widespread chronic pain, and 707 (5.3%) reported high-intensity chronic pain. In age- and gender-adjusted analyses, chronic pain was associated with elevated CHD risk scores (odds ratio 1.11, 95% confidence interval 1.01-1.23) and the metabolic syndrome (odds ratio 1.42, 95% confidence interval 1.24-1.62). Multivariate analyses identified dyslipidaemia, age, gender, smoking, obesity, and high waist-hip ratio as independently associated with chronic pain. Within the chronic pain subgroup, widespread pain did not confer any additional cardiovascular disease risk. However, cardiovascular disease risk factors contributing to metabolic syndrome were more prevalent in those reporting high-intensity chronic pain. This large population-based study has demonstrated that chronic pain, and in particular high-intensity chronic pain, is associated with an increased prevalence of cardiovascular risk factors and metabolic syndrome. The 10-year CHD risk score and metabolic syndrome correlate well with increased pain intensity, but not with widespread pain. Copyright © 2013 International Association for the Study of Pain. Published by Elsevier B.V. All rights reserved.

Urinary retention and syndrome of inappropriate antidiuretic hormone secretion (SIADH) secondary to impacted gravid uterus.

PubMed

Irani, M; Fisher, N; Mor, A; Bensinger, G

2016-06-01

Urinary retention is an emergency that rarely occurs during pregnancy. Previous case reports have suggested multiple risk factors that can cause the gravid uterus to become impacted in the pelvis leading to lower bladder or urethral compression with subsequent urinary retention. However, no cases of urinary obstruction in a pregnancy that was complicated with severe electrolyte imbalance have been reported. To our knowledge, we report the first case of a 31-year-old woman presenting at 8 weeks' gestation with acute urinary retention caused by a retroflexed, retroverted uterus with a 6-cm posterior uterine fibroid leading to syndrome of inappropriate antidiuretic hormone secretion and severe hyponatremia requiring intensive care unit admission. The cornerstones of effective management of urinary retention should include: (i) urgent bladder catheterization; (ii) assessment of sodium levels to rule out syndrome of inappropriate antidiuretic hormone secretion, and prompt treatment before neurological damage occurs; (iii) reduction of the impacted uterus; and (iv) monitoring for post-obstructive diuresis. © 2016 Japan Society of Obstetrics and Gynecology.

Effects of intensive glucose control on platelet reactivity in patients with acute coronary syndromes. Results of the CHIPS Study ("Control de Hiperglucemia y Actividad Plaquetaria en Pacientes con Sindrome Coronario Agudo").

PubMed

Vivas, David; García-Rubira, Juan C; Bernardo, Esther; Angiolillo, Dominick J; Martín, Patricia; Calle-Pascual, Alfonso; Núñez-Gil, Iván; Macaya, Carlos; Fernández-Ortiz, Antonio

2011-05-01

Hyperglycaemia has been associated with increased platelet reactivity and impaired prognosis in patients with acute coronary syndrome (ACS). Whether platelet reactivity can be reduced by lowering glucose in this setting is unknown. The aim of this study was to assess the functional impact of intensive glucose control with insulin on platelet reactivity in patients admitted with ACS and hyperglycaemia. This is a prospective, randomised trial evaluating the effects of either intensive glucose control (target glucose 80-120 mg/dl) or conventional control (target glucose 180 mg/dl or less) with insulin on platelet reactivity in patients with ACS and hyperglycaemia. The primary endpoint was platelet aggregation following stimuli with 20 μM ADP at 24 h and at hospital discharge. Aggregation following collagen, epinephrine and thrombin receptor-activated peptide, as well as P2Y₁₂ reactivity index and surface expression of glycoprotein IIb/IIIa and P-selectin were also measured. Of the 115 patients who underwent random assignment, 59 were assigned to intensive and 56 to conventional glucose control. Baseline platelet functions and inhospital management were similar in both groups. Maximal aggregation after ADP stimulation at hospital discharge was lower in the intensive group (47.9 ± 13.2% vs 59.1 ± 17.3%; p=0.002), whereas no differences were found at 24 h. Similarly all other parameters of platelet reactivity measured at hospital discharge were significantly reduced in the intensive glucose control group. In this randomised trial, early intensive glucose control with insulin in patients with ACS presenting with hyperglycaemia was found to decrease platelet reactivity. Clinical Trial Registration Number http://www.controlledtrials.com/ISRCTN35708451/ISRCTN35708451.

The Syndrome of Catatonia

PubMed Central

Wilcox, James Allen; Reid Duffy, Pam

2015-01-01

Catatonia is a psychomotor syndrome which has historically been associated with schizophrenia. Many clinicians have thought that the prevalence of this condition has been decreasing over the past few decades. This review reminds clinicians that catatonia is not exclusively associated with schizophrenia, and is still common in clinical practice. Many cases are related to affective disorders or are of an idiopathic nature. The illusion of reduced prevalence has been due to evolving diagnostic systems that failed to capture catatonic syndromes. This systemic error has remained unchallenged, and potentiated by the failure to perform adequate neurological evaluations and catatonia screening exams on psychiatric patients. We find that current data supports catatonic syndromes are still common, often severe and of modern clinical importance. Effective treatment is relatively easy and can greatly reduce organ failure associated with prolonged psychomotor symptoms. Prompt identification and treatment can produce a robust improvement in most cases. The ongoing prevalence of this syndrome requires that psychiatrists recognize catatonia and its presentations, the range of associated etiologies, and the import of timely treatment. PMID:26690229

[The post-discectomy syndrome: clinical and electroneuromyographic characteristics and methods of treatment].

PubMed

Musaev, A V; Guseĭnova, S G; Musaeva, I R

2008-01-01

The data of the Azerbaijan Neurosurgical Center, including 2618 case-reports of patients operated on for low back discal hernia between 1997 and 2002, have been analyzed. The retrospective analysis of the data reveals that 26,4% of patients need further restorative treatment due to the presence of various neurological disturbances: pain syndromes of different intensity, motor deficits (pareses), sensory disorders and functional disorders of pelvic organs. The retrospective analysis of the data reveals that 26,4% of patients need further restorative treatment due to the presence of various neurological disturbances: pain syndromes of different intensity, motor deficits (pareses), sensory disorders and functional disorders of pelvic organs. Along with these data, the results of our own clinical and neurophysiological study of 110 patients have been summarized as well. Along with these data, the results of our own clinical and neurophysiological study of 110 patients have been summarized as well. A high effectiveness of electrostimulation and naphthalan therapy alone and in combination with massage and medical gymnastics has been revealed. A high effectiveness of electrostimulation and naphthalan therapy alone and in combination with massage and medical gymnastics has been revealed. Electroneuromyographic data revealing the positive dynamics as a result of the treatment of patients with the post-discectomy syndrome are presented. Electroneuromyographic data revealing the positive dynamics as a result of the treatment of patients with the post-discectomy syndrome are presented.

Tourette Syndrome: School-Based Interventions for Tics and Associated Conditions

ERIC Educational Resources Information Center

Koutsoklenis, Athanasios; Theodoridou, Zoe

2012-01-01

Tourette syndrome (TS) is a neurological disorder characterized by motor and phonic tics that follow a fluctuating pattern of severity, intensity and frequency. TS is often associated with other conditions such as attention-deficit/hyperactivity disorder, obsessive-compulsive disorder and learning difficulties. This complex phenotype affects the…

Aerobic Exercise Training in Post-Polio Syndrome: Process Evaluation of a Randomized Controlled Trial

PubMed Central

Voorn, Eric L.; Koopman, Fieke S.; Brehm, Merel A.; Beelen, Anita; de Haan, Arnold; Gerrits, Karin H. L.; Nollet, Frans

2016-01-01

Objective To explore reasons for the lack of efficacy of a high intensity aerobic exercise program in post-polio syndrome (PPS) on cardiorespiratory fitness by evaluating adherence to the training program and effects on muscle function. Design A process evaluation using data from an RCT. Patients Forty-four severely fatigued individuals with PPS were randomized to exercise therapy (n = 22) or usual care (n = 22). Methods Participants in the exercise group were instructed to exercise 3 times weekly for 4 months on a bicycle ergometer (60–70% heart rate reserve). Results The attendance rate was high (median 89%). None of the participants trained within the target heart rate range during >75% of the designated time. Instead, participants exercised at lower intensities, though still around the anaerobic threshold (AT) most of the time. Muscle function did not improve in the exercise group. Conclusion Our results suggest that severely fatigued individuals with PPS cannot adhere to a high intensity aerobic exercise program on a cycle ergometer. Despite exercise intensities around the AT, lower extremity muscle function nor cardiorespiratory fitness improved. Improving the aerobic capacity in PPS is difficult through exercise primarily focusing on the lower extremities, and may require a more individualized approach, including the use of other large muscle groups instead. Trial Registration Netherlands National Trial Register NTR1371 PMID:27419388

The Profile and Incidence of Cancer in Down Syndrome

ERIC Educational Resources Information Center

Sullivan, S. G.; Hussain, R.; Glasson, E. J.; Bittles, A. H.

2007-01-01

Background: Down syndrome is one of the commonest causes of intellectual disability. As life expectancy improves with early and more intensive surgical and medical treatments, people with the disorder are more likely to exhibit classic morbidity and mortality patterns and be diagnosed with diseases such as cancer. Methods: A profile of cancer…

Early Exposure to Recommended Calorie Delivery in the Intensive Care Unit Is Associated With Increased Mortality in Patients With Acute Respiratory Distress Syndrome.

PubMed

Peterson, Sarah J; Lateef, Omar B; Freels, Sally; McKeever, Liam; Fantuzzi, Giamila; Braunschweig, Carol A

2017-06-01

The Intensive Nutrition in Acute Lung Injury: Clinical Trial (INTACT), designed to evaluate outcomes of calorie delivery from acute respiratory distress syndrome (ARDS) diagnosis through hospital discharge, was stopped due to higher mortality in the intervention group. Post hoc analysis found timing and dose of calorie delivery influenced mortality. The objective of this retrospective cohort study was to determine if early vs late calorie exposure changed the hazard of death among a larger sample of patients with ARDS. Adult patients who met the eligibility criteria for INTACT but did not participate were included. Daily calorie delivery was collected from the date INTACT eligibility was determined to extubation or death. Cox proportional hazards regression was used to model the relationship between hazard of hospital death with average calorie exposure received over increasing study days and after day 7. A total of 298 patients were included; overall mortality was 33%. Among patients who remained intubated at 1 week (n = 202), higher kcal/kg received from intensive care unit (ICU) days 1-6 increased hazards of subsequent death on days 7+ (hazard ratio [HR], 1.04; 95% confidence interval [CI], 1.01-1.06); kcal/kg received after ICU day 7 decreased the hazards of death on day 7+ (HR, 0.53; 95% CI, 0.33-0.84). Higher calorie exposure between ICU days 1 and 7 was associated with higher subsequent hazard of mortality, and provision of high-calorie exposure after day 8 decreased the hazards of death.

Plastic Surgery Intervention with Down Syndrome Persons: Summary of a Conference.

ERIC Educational Resources Information Center

Exceptional Parent, 1983

1983-01-01

The article discusses the role of plastic surgery for persons with Down Syndrome, as considered in a recent conference. The functions of team plastic surgery, importance of intensive speech therapy, and the question of ultimate therapeutic value are among questions considered. (CL)

Temporal relationship between premonitory urges and tics in Gilles de la Tourette syndrome.

PubMed

Brandt, Valerie C; Beck, Christian; Sajin, Valeria; Baaske, Magdalena K; Bäumer, Tobias; Beste, Christian; Anders, Silke; Münchau, Alexander

2016-04-01

Premonitory urges are a cardinal feature in Tourette syndrome and are commonly viewed as the driving force of tics, building up before and subsiding after the execution of tics. Although the urge-tic interplay is one of the most preeminent features in Tourette syndrome, the temporal relationship between tics and urges has never been examined experimentally, mainly due to the lack of an appropriate assessment tool. We investigated the temporal relationship between urge intensity and tics in 17 Tourette patients and between urge intensity and eye blinks in 16 healthy controls in a free ticcing/blinking condition and a tic/blink suppression condition. For this purpose, an urge assessment tool was developed that allows real-time monitoring and quantification of urge intensity. Compared to free ticcing/blinking, urge intensity was higher during the suppression condition in both Tourette patients and healthy controls, while tics and blinks occurred less frequently. The data show that urge intensity increases prior to tics and decreases after tics in a time window of approximately ±10 sec. Tic suppression had a significant effect on the shape of the urge distribution around tics and led to a decrease in the size of the correlation between urge intensity and tics, indicating that tic suppression led to a de-coupling of tics and urges. In healthy controls, urges to blink were highly associated with eye blink execution, albeit in a narrower time frame (∼±5 sec). Blink suppression had a similar effect on the urge distribution associated with eye blinks as tic suppression had on the urge to tic in Tourette patients. These results corroborate the negative reinforcement model, which proposes that tics are associated with a relief in urges, thereby perpetuating ticcing behaviour. This study also documents similarities and differences between urges to act in healthy controls and urges to tic in Tourette syndrome. Copyright © 2016 Elsevier Ltd. All rights reserved.

Paradoxical immune reconstitution inflammatory syndrome associated with previous Cryptococcus neoformans infection in an HIV-positive patient requiring neurosurgical intervention.

PubMed

Biagetti, Carlo; Nicola, Monica; Borderi, Marco; Pavoni, Michele; Tampellini, Livia; Verucchi, Gabriella; Chiodo, Francesco

2009-04-01

Immune reconstitution inflammatory syndrome (IRIS) in HIV-1-infected patients is associated with an exaggerated inflammatory response against an opportunistic infection during highly active antiretroviral therapy. The only review on IRIS associated with Criptococcus neoformans reported 21 episodes including lymphadenitis, necrotizing pneumonitis, breast and cutaneous abscess, and cryptococcomas. To our knowledge this is the first report of IRIS associated with previous meningeal criptococcal infection which required neurosurgical intervention with placement of a ventriculo-peritoneal shunt to drain a CSF cyst formed by exclusion of the temporal horn of the right lateral ventricle. We demonstrate that this procedure is possible without complications such as cryptococcal dissemination into the peritoneum.

INTENSITY, DURATION AND TYPE OF PHYSICAL ACTIVITY REQUIRED TO IMPROVE FUNCTION IN KNEE OSTEOARTHRITIS

PubMed Central

KIRIHARA, RICARDO AKIHIRO; CATELAN, FELLIPE BRAVIM; FARIAS, FABIANE ELIZE SABINO DE; SILVA, CLEIDNÉIA APARECIDA CLEMENTE DA; CERNIGOY, CLAUDIA HELENA DE AZEVEDO; REZENDE, MÁRCIA UCHOA DE

2017-01-01

ABSTRACT Objective: To evaluate the effects of physical activity intensity, type and duration in patients with knee osteoarthritis (KOA). Methods: A retrospective study of 195 KOA patients who were followed for two years after receiving educational material about KOA with or without attending classes. The patients were evaluated at baseline and 24 months. At the evaluations, the patients answered questionnaires pertaining to pain and function (WOMAC, Lequesne, VAS and SF-36); reported the intensity, duration and type of exercise performed per week; and performed the Timed Up & Go (TUG) and Five Times Sit-to-Stand (FTSST) tests. Results: Increased age affected improvements in the TUG results (p=0.017). The type, intensity and duration of physical activity did not correlate with pain, function or quality of life improvements (p>0.05), but the TUG results were on average 4 seconds faster among the patients who practiced intense physical activity and/or exercised for more than 180 minutes per week and/or performed isolated weight training or swam compared with those who remained sedentary after 2 years (p=0.01; p<0.001; p=0.01; p=0.04, respectively). Conclusions: Patients with KOA should aim for intense physical activity and/or more than 180 minutes of exercise per week and/or weight training (bodybuilding) for relevant pain reduction and functional improvement.Level of Evidence II, Retrospective Study. PMID:28642646

Goldenhar syndrome: Cardiac anesthesiologist's perspective.

PubMed

Choudhury, Minati; Kapoor, Poonam Malhotra

2017-01-01

Goldenhar syndrome or oculo-auriculo-vertebral dysplasia was defined by Goldenhar in 1952 and redefined by Grolin et al. later. As the name denotes, children with this syndrome present with craniofacial and vertebral anomalies which increase the risk of airway compromise. Neonates and infants with this syndrome often have premature internal organs, low birth weight, and airway disorders. For this reason, safe anesthesia in such infants requires a complete knowledge regarding metabolism and side effects of the drugs. The association of cardiovascular abnormalities is not uncommon and possesses additional challenge for anesthetic management. The aim of this review is to draw attention to the various perioperative problems that can be faced in these infants when they undergo surgery or the correction of the underlying cardiac problem.

Optical filter requirements in an EML-based single-sideband PAM4 intensity-modulation and direct-detection transmission system.

PubMed

Chen, Hsing-Yu; Kaneda, Noriaki; Lee, Jeffrey; Chen, Jyehong; Chen, Young-Kai

2017-03-20

The feasibility of a single sideband (SSB) PAM4 intensity-modulation and direct-detection (IM/DD) transmission based on a CMOS ADC and DAC is experimentally demonstrated in this work. To cost effectively build a >50 Gb/s system as well as to extend the transmission distance, a low cost EML and a passive optical filter are utilized to generate the SSB signal. However, the EML-induced chirp and dispersion-induced power fading limit the requirements of the SSB filter. To separate the effect of signal-signal beating interference, filters with different roll-off factors are employed to demonstrate the performance tolerance at different transmission distance. Moreover, a high resolution spectrum analysis is proposed to depict the system limitation. Experimental results show that a minimum roll-off factor of 7 dB/10GHz is required to achieve a 51.84Gb/s 40-km transmission with only linear feed-forward equalization.

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.

Genetic, chromosomal, and syndromic causes of neural tube defects

PubMed Central

Seidahmed, Mohammed Z.; Abdelbasit, Omer B.; Shaheed, Meeralebbae M.; Alhussein, Khalid A.; Miqdad, Abeer M.; Samadi, Abdulmohsen S.; Khalil, Mohammed I.; Al-Mardawi, Elham; Salih, Mustafa A.

2014-01-01

Objective: To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. Methods: We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data. Results: Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies. Conclusions: There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions. PMID:25551112

Long-term outcome of elderly patients requiring intensive care admission for abdominal pathologies: survival and quality of life.

PubMed

Merlani, P; Chenaud, C; Mariotti, N; Ricou, B

2007-05-01

Medical developments have allowed the management of patients aged over 70 years with severe abdominal pathologies requiring intensive care unit (ICU) admission. These patients require enhanced life support and present a high ICU mortality. We investigated the outcome and quality of life (QOL) of elderly patients 2 years after their ICU stay for abdominal pathologies. Patients aged 70 years or over with abdominal pathologies, admitted to our ICU over a period of 2 years, were included. Two years following their ICU stay, a letter informed the patients about the present study. Consent to participate was obtained by telephone. QOL was assessed by the Euro-QOL and Short Form-36 questionnaires. Other patient-centered outcomes were evaluated. Overall, 2780 patients were admitted to the ICU during the study period; 141 (5%) patients were eligible; 112 of the 141 (79%) survived their ICU stay, 95 (67%) survived their hospital stay and 52 (37%) were alive 2 years after their ICU stay; 36 of the 52 survivors (69%) answered the questionnaire. Their QOL 2 years after their ICU stay was decreased in comparison with an age-matched population. Eighty-one per cent of patients lived at home and 57% were totally independent. They perceived their ICU stay as positive and 75% stated that they would agree to go through intensive care again. Factors associated with 2-year survival were the absence of co-morbidity, absence of malignancy and a lower Simplified Acute Physiology II score on ICU admission. A high mortality rate and a decrease in QOL were observed in elderly patients with severe abdominal pathologies. Nonetheless, these patients were able to adapt well to their physical disabilities.

Critically ill children with pandemic influenza (H1N1) in pediatric intensive care units in Turkey.

PubMed

Kendirli, Tanil; Demirkol, Demet; Yildizdas, Dinçer; Anil, Ayse Berna; Asilioğlu, Nazik; Karapinar, Bülent; Erkek, Nilgün; Sevketoğlu, Esra; Dursun, Oğuz; Arslanköylü, Ali Ertuğ; Bayrakçi, Benan; Bosnak, Mehmet; Köroğlu, Tolga; Horoz, Ozgür Ozden; Citak, Agop; Kesici, Selman; Ates, Can; Karaböcüoğlu, Metin; Ince, Erdal

2012-01-01

To outline the epidemiologic features, clinical presentation, clinical courses, and outcomes in critically ill children with pandemic influenza in pediatric intensive care units. Retrospective, observational, multicenter study. Thirteen tertiary pediatric intensive care units in Turkey. Eighty-three children with confirmed infection attributable to pandemic influenza detected by reverse-transcriptase polymerase chain reaction assay between November 1 and December 31, 2009 who were admitted to critical care units. None. During a 2-month period, 532 children were hospitalized with pandemic influenza and 83 (15.6%) needed critical care. For the 83 patients requiring critical care, the median age was 42 (range, 2-204) months, with 24 (28.9%) and 48 (57.8%) of patients younger than 2 and 5 yrs, respectively. Twenty (24.1%) patients had no underlying illness, but 63 (75.9%) children had an underlying chronic illness. Indications for admission to the pediatric intensive care unit were respiratory failure in 66 (79.5%), neurologic deterioration in six (7.2%), and gastrointestinal symptoms in five (6.0%) patients. Acute lung injury was diagnosed in 23 (27.7%), acute respiratory distress syndrome was diagnosed in 34 (41%), and 51 (61.4%) patients were mechanically ventilated. Oseltamivir was used in 80 (96%) patients. The mortality rate for children with pandemic influenza 2009 was 30.1% compared to an overall mortality rate of 13.7% (p = .0016) among pediatric intensive care unit patients without pandemic influenza during the study period. Also, the mortality rate was 31.7% in patients with comorbidities and 25.0% in previously healthy children (p = .567). The cause of death was primary pandemic influenza infection in 16 (64%), nosocomial infection in four (16%), and primary disease progression in five (20%) patients. The odds ratio for respiratory failure was 14.7 (95% confidence interval, 1.85-111.11), and odds ratio for mechanical ventilation was 27.7 (95% confidence

Understanding Bartter syndrome and Gitelman syndrome.

PubMed

Fremont, Oliver T; Chan, James C M

2012-02-01

We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

Upper Extremity Steal Syndrome Is Associated with Atherosclerotic Burden and Access Configuration.

PubMed

Kudlaty, Elizabeth A; Kendrick, Daniel E; Allemang, Matthew T; Kashyap, Vikram S; Wong, Virginia L

2016-08-01

Clinically significant steal syndrome occurs in a subset of dialysis patients with arteriovenous (AV) access. Factors associated with steal are poorly understood. Severe symptoms require access revision or sacrifice, potentially jeopardizing access options. Our objective was to review our dialysis access experience to identify factors associated with significant steal syndrome. We reviewed all adult patients undergoing their first permanent upper extremity access, AV fistula (AVF) or AV graft (AVG), between January 2008 and July 2011 at a single center. Medical, demographic, and access characteristics were collected from our electronic medical record and a local dialysis center's database. Patients who required correction of steal syndrome were compared with the larger access cohort. Statistical analysis included Fisher's exact test and χ(2) for noncontinuous variables and unpaired t-test for continuous variables. Of the 303 patients, 15 required correction for steal syndrome (8 of 232 AVF and 7 of 71 AVG). Eight were ligated; 2 were initially banded, then ligated; and 5 underwent distal revascularization with interval ligation. Coronary artery disease was more prevalent in steal syndrome patients (66.7% vs. 25%, P = 0.001); the same was found with peripheral arterial disease (40% vs. 13.8%, P = 0.02). Furthermore, more patients with steal syndrome were on clopidogrel for cardiovascular reasons (40% vs. 9%, P = 0.002). Steal syndrome only developed with AVF and AVG using brachial artery inflow. No cases of steal syndrome arose from radial/ulnar inflow (P = 0.03). All AVG with steal syndrome had a straight configuration; no looped AVG developed steal (P = 0.02). Other patient characteristics such as age, sex, race, hypertension, diabetes mellitus, congestive heart failure, cerebrovascular accident, cause of end-stage renal disease, and other medication history were not different between groups. Clinically significant steal syndrome is associated with

Intensive Care, Intense Conflict: A Balanced Approach.

PubMed

Paquette, Erin Talati; Kolaitis, Irini N

2015-01-01

Caring for a child in a pediatric intensive care unit is emotionally and physically challenging and often leads to conflict. Skilled mediators may not always be available to aid in conflict resolution. Careproviders at all levels of training are responsible for managing difficult conversations with families and can often prevent escalation of conflict. Bioethics mediators have acknowledged the important contribution of mediation training in improving clinicians' skills in conflict management. Familiarizing careproviders with basic mediation techniques is an important step towards preventing escalation of conflict. While training in effective communication is crucial, a sense of fairness and justice that may only come with the introduction of a skilled, neutral third party is equally important. For intense conflict, we advocate for early recognition, comfort, and preparedness through training of clinicians in de-escalation and optimal communication, along with the use of more formally trained third-party mediators, as required. Copyright 2015 The Journal of Clinical Ethics. All rights reserved.

[Neonatal Pearson syndrome. two case studies].

PubMed

Collin-Ducasse, H; Maillotte, A-M; Monpoux, F; Boutté, P; Ferrero-Vacher, C; Paquis, V

2010-01-01

Among the etiologies of anemia in the newborn, those related to mitochondrial cytopathies are rare. Pearson syndrome is mostly diagnosed during infancy and characterized by refractory sideroblastic anemia with vacuolization of marrow progenitor cells and exocrine pancreatic dysfunction. We describe two diagnosed cases of Pearson syndrome in the early neonatal period caused by severe macrocytic aregenerative anemia. Bone marrow aspiration revealed sideroblastic anemia and vacuolization of erythroblastic precursors. The diagnosis was confirmed by genetic analysis revealing a deletion in the mitochondrial DNA. These two newborns received monthly transfusions. Five other newborns suffering from Pearson syndrome with various clinical symptoms were found in literature. Pearson syndrome, rarely diagnosed in newborns, should be suspected in the presence of macrocytic aregenerative anemia and requires a bone marrow aspirate followed by a genetic analysis from a blood sample. Copyright 2009 Elsevier Masson SAS. All rights reserved.

Anaesthesiological considerations in patients with Sneddon's syndrome.

PubMed

Heesen, M; Rossaint, R

2000-01-01

Sneddon's syndrome is a rare disease with strong gender prevalence of females. This syndrome is characterized by livedo racemosa and cerebrovascular lesions. Since no specific test is available, the clinical differentiation from other disorders with similar symptomatology may raise difficulties. The cerebral involvement includes strokes with cases of more than one ischaemic event having been reported. Associations with convulsions, heart valve disease, systemic hypertension, and renal impairment have been described. We report the case of a 5-year-old boy who was anaesthesized for dental surgery. Due to the fact that 50% of Sneddon's syndrome patients develop mental retardation, even minor procedures require general anaesthesia. A review of the literature is added and specific anaesthesiological aspects of the perioperative care of Sneddon's syndrome are discussed.

Prevalence of metabolic syndrome among Filipino-Americans: a cross-sectional study.

PubMed

Dalusung-Angosta, Alona; Gutierrez, Antonio

2013-11-01

The aims of this study are a) to examine the prevalence of metabolic syndrome among Filipino-Americans, b) to compare the rate of metabolic syndrome between Filipino men and women, and c) to examine the prevalence of central adiposity. Filipino-Americans are the second largest Asian subgroup in the United States and their leading cause of death is coronary heart disease (CHD). This study utilized a descriptive correlational, cross-sectional design that included a convenience sample of 300 Filipino-Americans residing in Southern Nevada. Survey questionnaires were used to collect the sample's demographic data and presence of CHD risk factors. Waist circumference measurements were used to examine central adiposity. Metabolic syndrome and central adiposity are highly prevalent among Filipino-Americans residing in Southern Nevada. More men than women had the syndrome, but the rate of central adiposity was significantly higher in women than in men. Intensive lifestyle modifications and treatment are indicated to decrease the prevalence of metabolic syndrome and the risk of heart disease in this group. Published by Elsevier Inc.

Exercise Induced Rhabdomyolysis with Compartment Syndrome and Renal Failure

PubMed Central

Bhalla, Mary Colleen; Dick-Perez, Ryan

2014-01-01

Exertional rhabdomyolysis is sequela that is occasionally seen after strenuous exercise. The progression to compartment syndrome or renal failure is a rare complication that requires prompt recognition and treatment to prevent morbidity (Giannoglou et al. 2007). We present a case of a 22-year-old college football player who presented to the emergency department (ED) after a typical leg workout as part of his weight conditioning. He was found to have rhabdomyolysis with evidence of renal insufficiency. His condition progressed to bilateral compartment syndrome and renal failure requiring dialysis. After bilateral fasciotomies were performed he had resolution of his compartment syndrome. He continued to be dialysis dependent and had no return of his renal function at discharge 12 days after admission. PMID:25105034

Exercise induced rhabdomyolysis with compartment syndrome and renal failure.

PubMed

Bhalla, Mary Colleen; Dick-Perez, Ryan

2014-01-01

Exertional rhabdomyolysis is sequela that is occasionally seen after strenuous exercise. The progression to compartment syndrome or renal failure is a rare complication that requires prompt recognition and treatment to prevent morbidity (Giannoglou et al. 2007). We present a case of a 22-year-old college football player who presented to the emergency department (ED) after a typical leg workout as part of his weight conditioning. He was found to have rhabdomyolysis with evidence of renal insufficiency. His condition progressed to bilateral compartment syndrome and renal failure requiring dialysis. After bilateral fasciotomies were performed he had resolution of his compartment syndrome. He continued to be dialysis dependent and had no return of his renal function at discharge 12 days after admission.

The characteristics of autonomic nervous system disorders in burning mouth syndrome and Parkinson disease.

PubMed

Koszewicz, Magdalena; Mendak, Magdalena; Konopka, Tomasz; Koziorowska-Gawron, Ewa; Budrewicz, Sławomir

2012-01-01

To conduct a clinical electrophysiologic evaluation of autonomic nervous system functions in patients with burning mouth syndrome and Parkinson disease and estimate the type and intensity of the autonomic dysfunction. The study involved 83 subjects-33 with burning mouth syndrome, 20 with Parkinson disease, and 30 controls. The BMS group included 27 women and 6 men (median age, 60.0 years), and the Parkinson disease group included 15 women and 5 men (median age, 66.5 years). In the control group, there were 20 women and 10 men (median age, 59.0 years). All patients were subjected to autonomic nervous system testing. In addition to the Low autonomic disorder questionnaire, heart rate variability (HRV), deep breathing (exhalation/inspiration [E/I] ratio), and sympathetic skin response (SSR) tests were performed in all cases. Parametric and nonparametric tests (ANOVA, Kruskal-Wallis, and Scheffe tests) were used in the statistical analysis. The mean values for HRV and E/I ratios were significantly lower in the burning mouth syndrome and Parkinson disease groups. Significant prolongation of SSR latency in the foot was revealed in both burning mouth syndrome and Parkinson disease patients, and lowering of the SSR amplitude occurred in only the Parkinson disease group. The autonomic questionnaire score was significantly higher in burning mouth syndrome and Parkinson disease patients than in the control subjects, with the Parkinson disease group having the highest scores. In patients with burning mouth syndrome, a significant impairment of both the sympathetic and parasympathetic nervous systems was found but sympathetic/parasympathetic balance was preserved. The incidence and intensity of autonomic nervous system dysfunction was similar in patients with burning mouth syndrome and Parkinson disease, which may suggest some similarity in their pathogeneses.

Intensity Biased PSP Measurement

NASA Technical Reports Server (NTRS)

Subramanian, Chelakara S.; Amer, Tahani R.; Oglesby, Donald M.; Burkett, Cecil G., Jr.

2000-01-01

The current pressure sensitive paint (PSP) technique assumes a linear relationship (Stern-Volmer Equation) between intensity ratio (I(sub 0)/I) and pressure ratio (P/P(sub 0)) over a wide range of pressures (vacuum to ambient or higher). Although this may be valid for some PSPs, in most PSPs the relationship is nonlinear, particularly at low pressures (less than 0.2 psia when the oxygen level is low). This non-linearity can be attributed to variations in the oxygen quenching (de-activation) rates (which otherwise is assumed constant) at these pressures. Other studies suggest that some paints also have non-linear calibrations at high pressures; because of heterogeneous (non-uniform) oxygen diffusion and c quenching. Moreover, pressure sensitive paints require correction for the output intensity due to light intensity variation, paint coating variation, model dynamics, wind-off reference pressure variation, and temperature sensitivity. Therefore to minimize the measurement uncertainties due to these causes, an in- situ intensity correction method was developed. A non-oxygen quenched paint (which provides a constant intensity at all pressures, called non-pressure sensitive paint, NPSP) was used for the reference intensity (I(sub NPSP)) with respect to which all the PSP intensities (I) were measured. The results of this study show that in order to fully reap the benefits of this technique, a totally oxygen impermeable NPSP must be available.

Intensity Biased PSP Measurement

NASA Technical Reports Server (NTRS)

Subramanian, Chelakara S.; Amer, Tahani R.; Oglesby, Donald M.; Burkett, Cecil G., Jr.

2000-01-01

The current pressure sensitive paint (PSP) technique assumes a linear relationship (Stern-Volmer Equation) between intensity ratio (I(sub o)/I) and pressure ratio (P/P(sub o)) over a wide range of pressures (vacuum to ambient or higher). Although this may be valid for some PSPs, in most PSPs the relationship is nonlinear, particularly at low pressures (less than 0.2 psia when the oxygen level is low). This non-linearity can be attributed to variations in the oxygen quenching (de-activation) rates (which otherwise is assumed constant) at these pressures. Other studies suggest that some paints also have non-linear calibrations at high pressures; because of heterogeneous (non-uniform) oxygen diffusion and quenching. Moreover, pressure sensitive paints require correction for the output intensity due to light intensity variation, paint coating variation, model dynamics, wind-off reference pressure variation, and temperature sensitivity. Therefore to minimize the measurement uncertainties due to these causes, an insitu intensity correction method was developed. A non-oxygen quenched paint (which provides a constant intensity at all pressures, called non-pressure sensitive paint, NPSP) was used for the reference intensity (I(sub NPSP) with respect to which all the PSP intensities (I) were measured. The results of this study show that in order to fully reap the benefits of this technique, a totally oxygen impermeable NPSP must be available.

Cost-effectiveness analysis of ultrasonography screening for nonalcoholic fatty liver disease in metabolic syndrome patients.

PubMed

Phisalprapa, Pochamana; Supakankunti, Siripen; Charatcharoenwitthaya, Phunchai; Apisarnthanarak, Piyaporn; Charoensak, Aphinya; Washirasaksiri, Chaiwat; Srivanichakorn, Weerachai; Chaiyakunapruk, Nathorn

2017-04-01

Nonalcoholic fatty liver disease (NAFLD) can be diagnosed early by noninvasive ultrasonography; however, the cost-effectiveness of ultrasonography screening with intensive weight reduction program in metabolic syndrome patients is not clear. This study aims to estimate economic and clinical outcomes of ultrasonography in Thailand. Cost-effectiveness analysis used decision tree and Markov models to estimate lifetime costs and health benefits from societal perspective, based on a cohort of 509 metabolic syndrome patients in Thailand. Data were obtained from published literatures and Thai database. Results were reported as incremental cost-effectiveness ratios (ICERs) in 2014 US dollars (USD) per quality-adjusted life year (QALY) gained with discount rate of 3%. Sensitivity analyses were performed to assess the influence of parameter uncertainty on the results. The ICER of ultrasonography screening of 50-year-old metabolic syndrome patients with intensive weight reduction program was 958 USD/QALY gained when compared with no screening. The probability of being cost-effective was 67% using willingness-to-pay threshold in Thailand (4848 USD/QALY gained). Screening before 45 years was cost saving while screening at 45 to 64 years was cost-effective. For patients with metabolic syndromes, ultrasonography screening for NAFLD with intensive weight reduction program is a cost-effective program in Thailand. Study can be used as part of evidence-informed decision making. Findings could contribute to changes of NAFLD diagnosis practice in settings where economic evidence is used as part of decision-making process. Furthermore, study design, model structure, and input parameters could also be used for future research addressing similar questions.

Pediatric Acute Lung Injury Epidemiology and Natural History study: Incidence and outcome of the acute respiratory distress syndrome in children.

PubMed

López-Fernández, Yolanda; Azagra, Amelia Martínez-de; de la Oliva, Pedro; Modesto, Vicent; Sánchez, Juan I; Parrilla, Julio; Arroyo, María José; Reyes, Susana Beatriz; Pons-Ódena, Martí; López-Herce, Jesús; Fernández, Rosa Lidia; Kacmarek, Robert M; Villar, Jesús

2012-12-01

The incidence and outcome of the acute respiratory distress syndrome in children are not well-known, especially under current ventilatory practices. The goal of this study was to determine the incidence, etiology, and outcome of acute respiratory distress syndrome in the pediatric population in the setting of lung protective ventilation. A 1-yr, prospective, multicenter, observational study in 12 geographical areas of Spain (serving a population of 3.77 million ≤ 15 yrs of age) covered by 21 pediatric intensive care units. All consecutive pediatric patients receiving invasive mechanical ventilation and meeting American-European Consensus Criteria for acute respiratory distress syndrome. None. Data on ventilatory management, gas exchange, hemodynamics, and organ dysfunction were collected. A total of 146 mechanically ventilated patients fulfilled the acute respiratory distress syndrome definition, representing a incidence of 3.9/100,000 population ≤ 15 yrs of age/yr. Pneumonia and sepsis were the most common causes of acute respiratory distress syndrome. At the time of meeting acute respiratory distress syndrome criteria, mean PaO2/FIO2 was 99 mm Hg ± 41 mm Hg, mean tidal volume was 7.6 mL/kg ± 1.8 mL/kg predicted body weight, mean plateau pressure was 27 cm H2O ± 6 cm H2O, and mean positive end-expiratory pressure was 8.9 cm ± 2.9 cm H2O. Overall pediatric intensive care unit and hospital mortality were 26% (95% confidence interval 19.6-33.7) and 27.4% (95% confidence interval 20.8-35.1), respectively. At 24 hrs, after the assessment of oxygenation under standard ventilatory settings, 118 (80.8%) patients continued to meet acute respiratory distress syndrome criteria (PaO2/FIO2 104 mm Hg ± 36 mm Hg; pediatric intensive care units mortality 30.5%), whereas 28 patients (19.2%) had a PaO2/FIO2 >200 mm Hg (pediatric intensive care units mortality 7.1%) (p = .014). This is the largest study to estimate prospectively the pediatric population-based acute

Acute toxoplasmoses in immunocompetent patients hospitalized in an intensive care unit in French Guiana.

PubMed

Demar, M; Hommel, D; Djossou, F; Peneau, C; Boukhari, R; Louvel, D; Bourbigot, A-M; Nasser, V; Ajzenberg, D; Darde, M-L; Carme, B

2012-07-01

Atypical Toxoplasma gondii strains, unrelated to archetypal clonal lineages (I, II, III), have been reported more frequently over the last decade in areas other than Europe and North America. A newly described form of toxoplasmosis, 'Amazonian toxoplasmosis' (AT), has been reported since 2002 in French Guiana. It is characterized by severe cases and atypical strains linked to a neotropical forest-based cycle. We report on the cases of AT that required intensive care management. We performed a prospective observational study on hospitalized adults in the Intensive Care Unit (ICU) from 2002 to 2008. Clinical and laboratory data, microbiological findings and outcomes were recorded. Data, including the ICU simplified acute physiology score and the pneumonia severity index, were calculated. Epidemiological risk factors for AT were assessed through questionnaires. Eleven non-immunodeficient patients were admitted to the ICU in Cayenne for life-threatening pneumonia associated with disseminated toxoplasmosis. Mechanical ventilation was necessary in seven patients, four of whom required immediate orotracheal intubation. Cardiac and ophthalmological abnormalities were found in five and four patients, respectively. One patient died from multiple organ failure. The genetic characterization of Toxoplasma DNA using six microsatellite markers revealed unique and atypical genotypes in eight patients. All patients presented epidemiological risk factors for AT. In French Guiana, significant T. gondii-related infectious syndrome associated with the lungs, a high level of LDH activity and the reported risk factors for AT was strongly suggestive of disseminated toxoplasmosis with a possible trend toward life-threatening pneumonia. © 2011 The Authors. Clinical Microbiology and Infection © 2011 European Society of Clinical Microbiology and Infectious Diseases.

Optimizing reduced-intensity conditioning regimens for myeloproliferative neoplasms

PubMed Central

Ramakrishnan, Aravind; Sandmaier, Brenda M

2010-01-01

The myeloproliferative neoplasms (MPNs) are a group of clonal disorders that arise from a pluripotent hematopoietic stem cell and are characterized by excess cellular proliferation. These disorders tend to be chronic in nature and can terminate over time into a bone marrow failure syndrome characterized by marrow fibrosis or transform into a leukemic phase. MPNs are predominantly diseases of the elderly and this is one reason why until very recently the standard treatment was supportive care. The only curative modality for these disorders is allogeneic hematopoietic cell transplantation. The introduction of reduced-intensity conditioning regimens now allows this life-saving therapy to be offered to elderly patients who were previously considered ineligible for high-dose conditioning owing to age or comorbidity. In this review, we will summarize the current strategies and future directions regarding the use of reduced-intensity conditioning regimens in the treatment of MPNs. PMID:20383269

Intensive Care Management of Patients with Cirrhosis.

PubMed

Olson, Jody C

2018-06-01

Cirrhosis is a major worldwide health problem which results in a high level of morbidity and mortality. Patients with cirrhosis who require intensive care support have high mortality rates of near 50%. The goal of this review is to address the management of common complications of cirrhosis in the ICU. Recent epidemiological studies have shown an increase in hospitalizations due to advanced liver disease with an associated increase in intensive care utilization. Given an increasing burden on the healthcare system, it is imperative that we strive to improve our management cirrhotic patients in the intensive care unit. Large studies evaluating the management of patients in the intensive care setting are lacking. To date, most recommendations are based on extrapolation of data from studies in cirrhosis outside of the ICU or by applying general critical care principles which may or may not be appropriate for the critically ill cirrhotic patient. Future research is required to answer important management questions.

Mechanisms and environmental factors that underlying the intensification of 3,4-methylenedioxymethamphetamine (MDMA, Ecstasy)-induced serotonin syndrome in rats

PubMed Central

Tao, Rui; Shokry, Ibrahim M.; Callanan, John J.; Adams, H. Daniel; Ma, Zhiyuan

2014-01-01

Rationale Illicit use of MDMA (3,4-methylenedioxymethamphetamine; Ecstasy) may cause a mild or severe form of the serotonin syndrome. The syndrome intensity is not just influenced by drug doses but also by environmental factors. Objectives Warm environmental temperatures and physical activity are features of raves. The purpose of this study was to assess how these two factors can potentially intensify the syndrome. Methods Rats were administered MDMA at doses of 0.3, 1 or 3 mg/kg, and examined in the absence or presence of warm temperature and physical activity. The syndrome intensity was estimated by visual scoring for behavioral syndrome and also instrumentally measuring changes in symptoms of the syndrome. Results Our results showed that MDMA at 3 mg/kg, but not 0.3 or 1 mg/kg, caused a mild serotonin syndrome in rats. Each environmental factor alone moderately intensified the syndrome. When the two factors were combined, the intensification became more severe than each factor alone highlighting a synergistic effect. This intensification was blocked by the 5-HT2A receptor antagonist M100907, competitive NMDA receptor antagonist CGS19755, autonomic ganglionic blocker hexamethonium, and the benzodiazepine-GABAA receptor agonist midazolam, but not by the 5-HT1A receptor antagonist WAY100635 or nicotinic receptor antagonist methyllycaconitine. Conclusions Our data suggest that, in the absence of environmental factors, the MDMA-induced syndrome is mainly mediated through the serotonergic transmission (5HT-dependent mechanism), and therefore, is relatively mild. Warm temperature and physical activity facilitate serotonergic and other neural systems such as glutamatergic and autonomic transmissions, resulting in intensification of the syndrome (non-5HT mechanisms). PMID:25300903

Applications in Data-Intensive Computing

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

Shah, Anuj R.; Adkins, Joshua N.; Baxter, Douglas J.

2010-04-01

This book chapter, to be published in Advances in Computers, Volume 78, in 2010 describes applications of data intensive computing (DIC). This is an invited chapter resulting from a previous publication on DIC. This work summarizes efforts coming out of the PNNL's Data Intensive Computing Initiative. Advances in technology have empowered individuals with the ability to generate digital content with mouse clicks and voice commands. Digital pictures, emails, text messages, home videos, audio, and webpages are common examples of digital content that are generated on a regular basis. Data intensive computing facilitates human understanding of complex problems. Data-intensive applications providemore » timely and meaningful analytical results in response to exponentially growing data complexity and associated analysis requirements through the development of new classes of software, algorithms, and hardware.« less

Fibromyalgia and chronic fatigue syndrome: management issues.

PubMed

Bourke, Julius

2015-01-01

Fibromyalgia and chronic fatigue syndrome represent two of the most commonly encountered functional somatic syndromes in clinical practice. Both have been contentious diagnoses in the past, and this diagnostic dispute has resulted in a therapeutic nihilism that has been of great detriment to their management and to alleviation of the intense suffering and disability that they have caused their innumerable sufferers. A new age has dawned in terms of a better understanding of these syndromes' physiology and improved approaches to their management. Here, the diagnosis and management of these closely related disorders are discussed, with particular reference to the recent empirical evidence that has come to light as a consequence of neurophysiological insights and robustly designed randomised clinical trials. Much work remains to be done in this vein, but we are better placed to facilitate recovery from these disorders than we have been previously. Whilst remission should always be a goal, complete symptom resolution is not the norm, but 'moderate' improvements are certainly attainable with appropriate management. © 2015 S. Karger AG, Basel.

The immunotherapy of Guillain-Barré syndrome.

PubMed

Restrepo-Jiménez, Paula; Rodríguez, Yhojan; González, Paulina; Chang, Christopher; Gershwin, M Eric; Anaya, Juan-Manuel

2018-05-08

Guillain-Barré syndrome is the most common cause of acute flaccid paralysis worldwide. Microorganisms such as Campylobacter jejuni, Cytomegalovirus, Epstein-Barr virus, Mycoplasma pneumoniae, Haemophilus influenzae and Zika virus have been linked to the disease. The most common clinical variants are acute inflammatory demyelinating polyneuropathy and acute motor axonal neuropathy. Plasma exchange and intravenous immunoglobulins are the standard therapy for the disease. Areas covered: research to elucidate the pathophysiology of Guillain-Barré syndrome has led to the development of drugs directed towards new potential therapeutic targets. This review offers a comprehensive view of the current treatment based upon the physiopathology. Expert opinion: patients with Guillain-Barré syndrome need a multidisciplinary approach, limitation to walk unaided and disability score are indicators for treatment as well as the presence of autonomic dysfunction and pain. Admission to intensive care units should be considered for those patients presenting with respiratory failure, bulbar involvement and progression of the disease. Research aimed to deciphering the pathophysiology of the disease, discovering new biomarkers and establishing algorithms of prediction of both the disease and its outcomes is warranted.

A meta-analysis of math performance in Turner syndrome.

PubMed

Baker, Joseph M; Reiss, Allan L

2016-02-01

Studies investigating the relationship between Turner syndrome and math learning disability have used a wide variation of tasks designed to test various aspects of mathematical competencies. Although these studies have revealed much about the math deficits common to Turner syndrome, their diversity makes comparisons between individual studies difficult. As a result, the consistency of outcomes among these diverse measures remains unknown. The overarching aim of this review is to provide a systematic meta-analysis of the differences in math and number performance between females with Turner syndrome and age-matched neurotypical peers. We provide a meta-analysis of behavioral performance in Turner syndrome relative to age-matched neurotypical populations on assessments of math and number aptitude. In total, 112 comparisons collected across 17 studies were included. Although 54% of all statistical comparisons in our analyses failed to reject the null hypothesis, our results indicate that meaningful group differences exist on all comparisons except those that do not require explicit calculation. Taken together, these results help elucidate our current understanding of math and number weaknesses in Turner syndrome, while highlighting specific topics that require further investigation. © 2015 Mac Keith Press.

Intensity standardisation of 7T MR images for intensity-based segmentation of the human hypothalamus

PubMed Central

Schreiber, Jan; Bazin, Pierre-Louis; Trampel, Robert; Anwander, Alfred; Geyer, Stefan; Schönknecht, Peter

2017-01-01

The high spatial resolution of 7T MRI enables us to identify subtle volume changes in brain structures, providing potential biomarkers of mental disorders. Most volumetric approaches require that similar intensity values represent similar tissue types across different persons. By applying colour-coding to T1-weighted MP2RAGE images, we found that the high measurement accuracy achieved by high-resolution imaging may be compromised by inter-individual variations in the image intensity. To address this issue, we analysed the performance of five intensity standardisation techniques in high-resolution T1-weighted MP2RAGE images. Twenty images with extreme intensities in the GM and WM were standardised to a representative reference image. We performed a multi-level evaluation with a focus on the hypothalamic region—analysing the intensity histograms as well as the actual MR images, and requiring that the correlation between the whole-brain tissue volumes and subject age be preserved during standardisation. The results were compared with T1 maps. Linear standardisation using subcortical ROIs of GM and WM provided good results for all evaluation criteria: it improved the histogram alignment within the ROIs and the average image intensity within the ROIs and the whole-brain GM and WM areas. This method reduced the inter-individual intensity variation of the hypothalamic boundary by more than half, outperforming all other methods, and kept the original correlation between the GM volume and subject age intact. Mixed results were obtained for the other four methods, which sometimes came at the expense of unwarranted changes in the age-related pattern of the GM volume. The mapping of the T1 relaxation time with the MP2RAGE sequence is advertised as being especially robust to bias field inhomogeneity. We found little evidence that substantiated the T1 map’s theoretical superiority over the T1-weighted images regarding the inter-individual image intensity homogeneity. PMID

Wolfram syndrome 1 gene (WFS1) product localizes to secretory granules and determines granule acidification in pancreatic beta-cells.

PubMed

Hatanaka, Masayuki; Tanabe, Katsuya; Yanai, Akie; Ohta, Yasuharu; Kondo, Manabu; Akiyama, Masaru; Shinoda, Koh; Oka, Yoshitomo; Tanizawa, Yukio

2011-04-01

Wolfram syndrome is an autosomal recessive disorder characterized by juvenile-onset insulin-dependent diabetes mellitus and optic atrophy. The gene responsible for the syndrome (WFS1) encodes an endoplasmic reticulum (ER) resident transmembrane protein. The Wfs1-null mouse exhibits progressive insulin deficiency causing diabetes. Previous work suggested that the function of the WFS1 protein is connected to unfolded protein response and to intracellular Ca(2+) homeostasis. However, its precise molecular function in pancreatic β-cells remains elusive. In our present study, immunofluorescent and electron-microscopic analyses revealed that WFS1 localizes not only to ER but also to secretory granules in pancreatic β-cells. Intragranular acidification was assessed by measuring intracellular fluorescence intensity raised by the acidotrophic agent, 3-[2,4-dinitroanilino]-3'-amino-N-methyldipropyramine. Compared with wild-type β-cells, there was a 32% reduction in the intensity in WFS1-deficient β-cells, indicating the impairment of granular acidification. This phenotype may, at least partly, account for the evidence that Wfs1-null islets have impaired proinsulin processing, resulting in an increased circulating proinsulin level. Morphometric analysis using electron microscopy evidenced that the density of secretory granules attached to the plasma membrane was significantly reduced in Wfs1-null β-cells relative to that in wild-type β-cells. This may be relevant to the recent finding that granular acidification is required for the priming of secretory granules preceding exocytosis and may partly explain the fact that glucose-induced insulin secretion is profoundly impaired in young prediabetic Wfs1-null mice. These results thus provide new insights into the molecular mechanisms of β-cell dysfunction in patients with Wolfram syndrome.

Cushing's syndrome in childhood: update on genetics, treatment, and outcomes.

PubMed

Lodish, Maya

2015-02-01

To provide an update on the genes associated with Cushing's syndrome in children, as well as to familiarize the clinician with recent treatment guidelines and outcome data for children with Cushing's syndrome. The list of genes associated with Cushing's syndrome continues to grow. In addition, treatment for childhood Cushing's syndrome is evolving. As long-term follow-up data on children becomes available, clinicians need to be aware of the issues that require attention. Knowledge of the specific genetic causes of Cushing's syndrome has potential implications for treatment, surveillance, and counseling. Advances in surgical technique, radiation modalities, and medical therapies offer the potential for additional treatment options in Cushing's syndrome. Early identification and management of post-treatment morbidities in children treated for Cushing's syndrome is crucial in order to optimize care.

Clinical characteristics of children with group A streptococcal toxic shock syndrome admitted to pediatric intensive care units.

PubMed

Rodríguez-Nuñez, Antonio; Dosil-Gallardo, Silvia; Jordan, Iolanda

2011-05-01

Streptococcal toxic shock syndrome (STSS) is a very rare and severe form of group A streptococcal infection whose clinical characteristics, therapy, morbidity, and mortality in children are not well known. Our objective was to describe the clinical characteristics of STSS in a series of children admitted to pediatric intensive care units (PICU). A multicenter, retrospective study of children with STSS admitted to 14 PICUs between January 1998 and December 2009 was conducted. Clinical information was obtained retrospectively by chart review. Data from 41 children were collected, 90% corresponding to the second half of the study period. Initial symptoms and signs were nonspecific. All patients developed shock and organ dysfunction, 78.0% developed coagulopathy, 70.7% neurologic dysfunction, and 68.3% respiratory failure. Rapid pharyngeal test for Streptococcus was positive in 78.0%. Initial leukocyte count was quite variable, with leukopenia present in 51.2% of patients and leukocytosis in 31.7%. Children were treated with antibiotics against group A Streptococcus (GAS), usually G penicillin or cephalosporin plus clindamycin. After a median PICU stay of 7 days (range 0-41), 65.8% of patients survived, 26.8% with sequelae. The cause of death of the 11 non-survivors was refractory shock and multi-organ failure. STSS is a very severe condition secondary to invasive GAS infection. It can occur at any age, but especially in young children. Due to the lack of specific symptoms and signs and its very rapid progression to shock and organ dysfunction, pediatricians and emergency physicians must be aware of this possibility and immediately initiate aggressive treatment when suspected.

Usher's syndrome--case report.

PubMed

Kwiecień, Sława; Sulak, Robert; Szaflik, Jerzy

2008-01-01

The aim of this study is to present a case of coincidence of sensorineural hearing loss with chronic recurrent bilateral cystoid macular oedema in a 32-year-old woman, who was admitted to the clinic for deterioration of visual acuity of four months' duration. The patient gave a history of hearing loss for 29 years. Visual field examination disclosed peripheral ring scotoma. Electrophysiological examination was performed: pattern visual evoked response was within normal limits and electroretinogram displayed diminished both photopic and scotopic response. As ophthalmoscopy demonstrated no pigment in the fundus of the eye, the findings were consisted with diagnosis of retinitis pigmentosis sine pigmento. The presence of loss of hearing indicated the necessity of performing the genetic examination for Usher's syndrome. In order to establish a final diagnosis of Usher's syndrome genetic examination must be performed, but family history is relevant. Early investigation for Usher's syndrome in children with sensorineural hearing impairment is of a great significance. The patient may develop symptoms of retinitis pigmentosa in second or even third decade of his life. The necessity of thorough investigation for detecting other systemic abnormalities should be emphasized. There is no effective treatment of this syndrome. A child with Usher's syndrome requires a comprehensive care of different medical specialties. Psychological, educational and sociological attitude is also of a great importance in the child development.

Fermilab computing at the Intensity Frontier

DOE PAGES

Group, Craig; Fuess, S.; Gutsche, O.; ...

2015-12-23

The Intensity Frontier refers to a diverse set of particle physics experiments using high- intensity beams. In this paper I will focus the discussion on the computing requirements and solutions of a set of neutrino and muon experiments in progress or planned to take place at the Fermi National Accelerator Laboratory located near Chicago, Illinois. In addition, the experiments face unique challenges, but also have overlapping computational needs. In principle, by exploiting the commonality and utilizing centralized computing tools and resources, requirements can be satisfied efficiently and scientists of individual experiments can focus more on the science and less onmore » the development of tools and infrastructure.« less

Prune Belly syndrome: A rare case report

PubMed Central

Samal, Sunil Kumar; Rathod, Setu

2015-01-01

Prune Belly syndrome (PBS) is a rare congenital anomaly of uncertain etiology almost exclusive to males. We report a case of term male baby born to a 39-year-old grand multipara with previous four normal vaginal births. There was no history of genetic or congenital anomaly in her family. Examination of the baby revealed hypotonia, deficient abdominal muscle, cryptorchidism, palpable kidney, and bladder. Ultrasound examination of the abdomen revealed bilateral gross hydronephrosis and megaureter. Provisional diagnosis of PBS was made and the baby was admitted in neonatal intensive care units for further management. Routine antenatal care with ultrasonography will help in detecting renal anomalies, which can be followed postnatally. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course. PMID:25810678

Reliability of the identification of the systemic inflammatory response syndrome in critically ill infants and children.

PubMed

Juskewitch, Justin E; Prasad, Swati; Salas, Carlos F Santillan; Huskins, W Charles

2012-01-01

To assess interobserver reliability of the identification of episodes of the systemic inflammatory response syndrome in critically ill hospitalized infants and children. Retrospective, cross-sectional study of the application of the 2005 consensus definition of systemic inflammatory response syndrome in infants and children by two independent, trained reviewers using information in the electronic medical record. Eighteen-bed pediatric multidisciplinary medical/surgical pediatric intensive care unit. A randomly selected sample of children admitted consecutively to the pediatric intensive care unit between May 1 and September 30, 2009. None. Sixty infants and children were selected from a total of 343 admitted patients. Their median age was 3.9 yrs (interquartile range, 1.5-12.7), 57% were female, and 68% were Caucasian. Nineteen (32%) children were identified by both reviewers as having an episode of systemic inflammatory response syndrome (88% agreement, 95% confidence interval 78-94; κ = 0.75, 95% confidence interval 0.59-0.92). Among these 19 children, agreement between the reviewers for individual systemic inflammatory response syndrome criteria was: temperature (84%, 95% confidence interval 60-97); white blood cell count (89%, 95% confidence interval 67-99); respiratory rate (84%, 95% confidence interval 60-97); and heart rate (68%, 95% confidence interval 33-87). Episodes of systemic inflammatory response syndrome in critically ill infants and children can be identified reproducibly using the consensus definition.

A case-control evaluation of fungiform papillae density in burning mouth syndrome.

PubMed

Naud, Jason M; Benca, Laura; Drangsholt, Mark T; LeResche, Linda; Coldwell, Susan E

2018-04-01

It has been hypothesized that high fungiform papillae density may be a risk factor for developing the taste and pain alterations characteristic of burning mouth syndrome. Evaluate whether fungiform papillae density, taste sensitivity, and mechanical pain sensitivity differ between burning mouth syndrome cases and controls. This case-control study compared cases diagnosed with primary burning mouth syndrome with pain-free controls. Participants (17 female cases and 23 female controls) rated the intensity of sucrose, sodium chloride, citric acid, and quinine applied separately to each side of the anterior tongue and sampled whole mouth. Mechanical pain sensitivity was assessed separately for each side of the tongue using weighted pins. Digital photographs of participants' tongues were used to count fungiform papillae. Burning mouth syndrome cases had increased whole mouth taste intensity. Cases also had increased sensitivity to quinine on the anterior tongue, as well as increased mechanical pain sensitivity on the anterior tongue. Fungiform papillae density did not differ significantly between cases and controls. Fungiform papillae density on the left and right sides of the tongue were correlated in controls; however, there was no left/right side correlation in cases. Cases had increased pain and taste perception on the anterior tongue. The lack of correlation between left and right fungiform papillae density in cases may be an indication of asymmetrical lingual innervation in these patients. 3b. Laryngoscope, 128:841-846, 2018. © 2017 The American Laryngological, Rhinological and Otological Society, Inc.

[Differential diagnosis of polyarthritis pain syndrome of the locomotor apparatus].

PubMed

Menninger, H

1998-02-28

Widespread pain syndromes of the musculoskeletal system present to general practitioners, internists, neurologists and orthopedic surgeons every day. The syndromes may result both from organic diseases (inflammatory joint diseases, rheumatic manifestations of organ diseases) as well as dysfunctional syndromes, the latter including mainly biomechanically induced syndromes and fibromyalgia. The approach is predominantly clinically oriented and requires laboratory means or technical procedures only in a limited extend. The duration of history, the recognition of synovitis and of myofascial trigger points or of integumental tender points allow in most patients to achieve appropriate diagnostic criteria.

Physical activity disparities by socioeconomic status among metabolic syndrome patients: The Fifth Korea National Health and Nutrition Examination Survey.

PubMed

Lee, Hyo; Kim, Byung-Hoon

2016-02-01

Physical activity plays an important role in preventing further progression of metabolic syndrome conditions to cardiovascular disease and type-2 diabetes. This study investigated physical activity disparities by socioeconomic status among metabolic syndrome patients. The fifth Korea National Health and Nutrition Examination Survey (2010-2012) data were analyzed (n=19,831). A revised definition of the US National Cholesterol Education Program Adult Treatment Panel III was used for screening metabolic syndrome patients. Using International Physical Activity Questionnaire, physical activity adherence was defined as participating in 150+ minutes of moderate-intensity physical activity, 75+ minutes of vigorous-intensity physical activity, or an equivalent combination of moderate-to vigorous-intensity physical activity per week. Socioeconomic status was measured by level of education and house-hold income. Among metabolic syndrome patients, physical activity adherence rate of first (lowest), second, third, and fourth quartile house-hold income group were 28.31% (95% confidence interval [CI], 26.14-30.28%), 34.68% (95% CI, 32.71-36.70), 37.44% (95% CI, 35.66-39.25), and 43.79% (95% CI, 41.85-45.75). Physical activity adherence rate of groups with elementary or lower, middle-school, high-school, and college or higher education degree were 25.17% (95% CI, 22.95-27.54), 38.2% (95% CI, 35.13-41.00), 39.60% (95% CI, 38.24-41.77), and 36.89% (95% CI, 35.77-38.03), respectively. This study found that physical activity adherence rate was lower in socioeconomically disadvantaged metabolic syndrome patients, which may aggravate health inequity status of Korean society.

Validating Accelerometry and Skinfold Measures in Youth with Down Syndrome

ERIC Educational Resources Information Center

Esposito, Phil Michael

2012-01-01

Current methods for measuring quantity and intensity of physical activity based on accelerometer output have been studied and validated in youth. These methods have been applied to youth with Down syndrome (DS) with no empirical research done to validate these measures. Similarly, individuals with DS have unique body proportions not represented by…

Long-term results of silicone expander for moderate and severe Brown syndrome (Brown syndrome "plus").

PubMed

Stager, D R; Parks, M M; Stager, D R; Pesheva, M

1999-12-01

The treatment of Brown syndrome has been undergoing an evolution toward more effective procedures with fewer operative interventions. Dr Kenneth Wright has introduced a procedure of superior oblique muscle tenotomy with a silicone expander to reduce the incidence of overcorrection. There was a retrospective study of 20 eyes of 19 consecutive patients with moderate or severe Brown syndrome (Brown syndrome "plus"). Follow-up ranged from 12 to 72 months. The expander, which varies 6 to 10 mm in length, was placed in all patients in the tenotomized superior oblique muscle tendon 5 mm nasal to the nasal border of the superior rectus muscle using 7-0 or 8-0 Prolene suture without violating the inner layer of the intermuscular septum. The intermuscular septum was closed over the silicone expander. One hundred percent of patients had resolution of the down shoot in adduction and some or full ability to elevate the eye in adduction. Twenty percent of patients required reoperation (12.5% using 5-8 mm expanders) for overcorrection. Restriction of downgaze was not seen postoperatively. Patients often show an undercorrection 1 to 6 months postoperatively and improve or occasionally overcorrect at 1 to 2 years postoperatively. One patient with a 10-mm expander extruded the implant. Placement of a 5- to 8-mm silicone expander in the tenotomized superior oblique muscle tendon is an effective means of correcting Brown syndrome with a low rate of reoperation. Initial undercorrection should not discourage the surgeon because improvement may continue for up to 3 years. The goal of treatment should be to convert a moderate or severe Brown syndrome (Brown syndrome plus) to a mild Brown syndrome ("true" Brown syndrome). This technique reduces the need for either simultaneous or subsequent inferior oblique muscle weakening and represents an advance in the treatment of Brown syndrome.

Catatonia, Neuroleptic Malignant Syndrome, and Cotard Syndrome in a 22-Year-Old Woman: A Case Report

PubMed Central

Weiss, C.; Santander, J.; Torres, R.

2013-01-01

The following case study describes a 22-year-old woman with depression and symptoms of psychosis who developed neuroleptic malignant syndrome after using Risperidone, thus requiring life support equipment and Bromocriptine, later recovering after seven days. From a psychiatric and neurological point of view, however, the persistence of catatonic syndrome and Cotard syndrome delusions was observed, based on assertions such as “I do not have a heart,” “my heart is not beating,” “I can not breathe,” “I am breaking apart,” “I have no head” (ideas of negation) and statements about the patient being responsible for the “death of the whole world” (ideas of enormity). Brain NMR revealed leukoencephalopathy, interpreted as scar lesions caused by perinatal neurological damage, after discarding other pathologies. The patient responded well to electroconvulsive therapy after 11 sessions. Organic vulnerability to these syndromes, as well as their coexistence and clinical differentiation is discussed in the light of the data observed. PMID:24093068

Catatonia, neuroleptic malignant syndrome, and cotard syndrome in a 22-year-old woman: a case report.

PubMed

Weiss, C; Santander, J; Torres, R

2013-01-01

The following case study describes a 22-year-old woman with depression and symptoms of psychosis who developed neuroleptic malignant syndrome after using Risperidone, thus requiring life support equipment and Bromocriptine, later recovering after seven days. From a psychiatric and neurological point of view, however, the persistence of catatonic syndrome and Cotard syndrome delusions was observed, based on assertions such as "I do not have a heart," "my heart is not beating," "I can not breathe," "I am breaking apart," "I have no head" (ideas of negation) and statements about the patient being responsible for the "death of the whole world" (ideas of enormity). Brain NMR revealed leukoencephalopathy, interpreted as scar lesions caused by perinatal neurological damage, after discarding other pathologies. The patient responded well to electroconvulsive therapy after 11 sessions. Organic vulnerability to these syndromes, as well as their coexistence and clinical differentiation is discussed in the light of the data observed.

[Takotsubo syndrome. Transient left ventricular dyskinesia].

PubMed

Pérez Pérez, F M; Sánchez Salado, J

2014-03-01

The Takotsubo syndrome, also called transient apical dyskinesia syndrome, was first described in Japan in the 1990s. It is a rare entity found in almost 1% of all patients with suspicion of acute coronary syndrome. It usually affects postmenopausal women with a few cardiovascular risk factors. It is characterized by angina-type chest pain, electrocardiographic changes, elevation of the enzymes of myocardial injury, absence of coronary obstruction on angiography, and a characteristic left ventricular anteroapical dyskinesia, which returns to normal within a few days. Severe emotional stress is the most common trigger for this syndrome. The aetiopathogenesis of this syndrome remains to be defined. This syndrome has been considered a clinical condition since 2001, when a series of 88 cases was published. It is a disease with a partially known mechanism, characterised by the morphology adopted by the left ventricle secondary to hypokinesis or dyskinesia of the apical segments, and hypercontractility of basal segments. Unlike acute coronary syndrome, patients with left ventricle dysfunction do not have atherothrombotic disease in the coronary arteries. In addition, the alterations described are reversible. Some clinical diagnostic criteria have been proposed, although they are still controversial, as well as in the complementary examinations required for diagnosis. Copyright © 2012 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

Deletion 22q13.3 syndrome.

PubMed

Phelan, Mary C

2008-05-27

The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. The deletion occurs with equal frequency in males and females and has been reported in mosaic and non-mosaic forms. Due to lack of clinical recognition and often insufficient laboratory testing, the syndrome is under-diagnosed and its true incidence remains unknown. Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Behavior is autistic-like with decreased perception of pain and habitual chewing or mouthing. The loss of 22q13.3 can result from simple deletion, translocation, ring chromosome formation and less common structural changes affecting the long arm of chromosome 22, specifically the region containing the SHANK3 gene. The diagnosis of deletion 22q13 syndrome should be considered in all cases of hypotonia of unknown etiology and in individuals with absent speech. Although the deletion can sometimes be detected by high resolution chromosome analysis, fluorescence in situ hybridization (FISH) or array comparative genomic hybridization (CGH) is recommended for confirmation. Differential diagnosis includes syndromes associated with hypotonia, developmental delay, speech delay and/or autistic-like affect (Prader-Willi, Angelman, Williams, Smith-Magenis, Fragile X, Sotos, FG, trichorhinophalangeal and velocardiofacial syndromes, autism spectrum disorders, cerebral palsy). Genetic counseling is recommended and parental laboratory studies should be considered to identify cryptic rearrangements and detect parental mosaicism. Prenatal diagnosis should be offered for future pregnancies in those families with inherited rearrangements. Individuals with

Increased Training Intensity Induces Proper Membrane Localization of Actin Remodeling Proteins in the Hippocampus Preventing Cognitive Deficits: Implications for Fragile X Syndrome.

PubMed

Martinez, L A; Tejada-Simon, Maria Victoria

2018-06-01

Behavioral intervention therapy has proven beneficial in the treatment of autism and intellectual disabilities (ID), raising the possibility of certain changes in molecular mechanisms activated by these interventions that may promote learning. Fragile X syndrome (FXS) is a neurodevelopmental disorder characterized by autistic features and intellectual disability and can serve as a model to examine mechanisms that promote learning. FXS results from mutations in the fragile X mental retardation 1 gene (Fmr1) that prevents expression of the Fmr1 protein (FMRP), a messenger RNA (mRNA) translation regulator at synapses. Among many other functions, FMRP organizes a complex with the actin cytoskeleton-regulating small Rho GTPase Rac1. As in humans, Fmr1 KO mice lacking FMRP display autistic-like behaviors and deformities of actin-rich synaptic structures in addition to impaired hippocampal learning and synaptic plasticity. These features have been previously linked to proper function of actin remodeling proteins that includes Rac1. An important step in Rac1 activation and function is its translocation to the membrane, where it can influence synaptic actin cytoskeleton remodeling during hippocampus-dependent learning. Herein, we report that Fmr1 KO mouse hippocampus exhibits increased levels of membrane-bound Rac1, which may prevent proper learning-induced synaptic changes. We also determine that increasing training intensity during fear conditioning (FC) training restores contextual memory in Fmr1 KO mice and reduces membrane-bound Rac1 in Fmr1 KO hippocampus. Increased training intensity also results in normalized long-term potentiation in hippocampal slices taken from Fmr1 KO mice. These results point to interventional treatments providing new therapeutic options for FXS-related cognitive dysfunction.

Contracting for intensive care services.

PubMed

Dorman, S

1996-01-01

Purchasers will increasingly expect clinical services in the NHS internal market to provide objective measures of their benefits and cost effectiveness in order to maintain or develop current funding levels. There is limited scientific evidence to demonstrate the clinical effectiveness of intensive care services in terms of mortality/morbidity. Intensive care is a high-cost service and studies of cost-effectiveness need to take account of case-mix variations, differences in admission and discharge policies, and other differences between units. Decisions over development or rationalisation of intensive care services should be based on proper outcome studies of well defined patient groups. The purchasing function itself requires development in order to support effective contracting.

Loin pain hematuria syndrome

PubMed Central

Zubair, Adeel S.; Salameh, Hassan; Erickson, Stephen B.; Prieto, Mikel

2016-01-01

Loin pain hematuria syndrome (LPHS), first described in 1967, is a rare pain syndrome, which is not well understood. The syndrome is characterized by severe intermittent or persistent flank pain, either unilateral or bilateral, associated with gross or microscopic hematuria. LPHS is a diagnosis of exclusion as there still is not a consensus of validated diagnostic criteria, though several criteria have been proposed. The wide differential diagnosis would suggest a meticulous yet specific diagnostic work-up depending on the individual clinical features and natural history. Several mechanisms regarding the pathophysiology of LPHS have been proposed but without pinpointing the actual causative etiology, the treatment remains symptomatic. Treatment modalities for LPHS are diverse including simple analgesia, opioid analgesic and kidney autotransplantation. This review article summarizes the current understanding regarding the pathophysiology of LPHS along with the steps required for proper diagnosis and a discussion of the different therapeutic approaches for LPHS. PMID:26798473

Unpredictable drug reaction in a child with Cornelia de Lange syndrome.

PubMed

Stevic, Marija; Milojevic, Irina; Bokun, Zlatko; Simic, Dusica

2015-02-01

Preoperative use of midazolam sedation is mandatory during induction of anesthesia in noncooperative and hyperactive children to prevent possible obstacles. Unusual drug reactions rarely occur in patients undergoing anesthesia or in intensive care unit. This report describes an unpredictable drug reaction after a routine midazolam premedication in a patient with no history of allergy. There has been no literature data yet to show that midazolam can provoke respiratory problems in patients with Cornelia de Lange Syndrome. In our opinion midazolam should be avoided in patients with Cornelia de Lange Syndrome, which we enforced after first unpredictable reaction.

Molecular typing of toxic shock syndrome toxin-1- and Enterotoxin A-producing methicillin-sensitive Staphylococcus aureus isolates from an outbreak in a neonatal intensive care unit.

PubMed

Layer, Franziska; Sanchini, Andrea; Strommenger, Birgit; Cuny, Christiane; Breier, Ann-Christin; Proquitté, Hans; Bührer, Christoph; Schenkel, Karl; Bätzing-Feigenbaum, Jörg; Greutelaers, Benedikt; Nübel, Ulrich; Gastmeier, Petra; Eckmanns, Tim; Werner, Guido

2015-10-01

Outbreaks of Staphylococcus aureus are common in neonatal intensive care units (NICUs). Usually they are documented for methicillin-resistant strains, while reports involving methicillin-susceptible S. aureus (MSSA) strains are rare. In this study we report the epidemiological and molecular investigation of an MSSA outbreak in a NICU among preterm neonates. Infection control measures and interventions were commissioned by the Local Public Health Authority and supported by the Robert Koch Institute. To support epidemiological investigations molecular typing was done by spa-typing and Multilocus sequence typing; the relatedness of collected isolates was further elucidated by DNA SmaI-macrorestriction, microarray analysis and bacterial whole genome sequencing. A total of 213 neonates, 123 healthcare workers and 205 neonate parents were analyzed in the period November 2011 to November 2012. The outbreak strain was characterized as a MSSA spa-type t021, able to produce toxic shock syndrome toxin-1 and Enterotoxin A. We identified seventeen neonates (of which two died from toxic shock syndrome), four healthcare workers and three parents putatively involved in the outbreak. Whole-genome sequencing permitted to exclude unrelated cases from the outbreak and to discuss the role of healthcare workers as a reservoir of S. aureus on the NICU. Genome comparisons also indicated the presence of the respective clone on the ward months before the first colonized/infected neonates were detected. Copyright © 2015 Elsevier GmbH. All rights reserved.

[Management of dysphagia in internal intensive-care medicine].

PubMed

Michels, G; Motzko, M; Weinert, M; Bruckner, M; Pfister, R; Guntinas-Lichius, O

2015-04-01

Physicians specializing in dysphagia are needed in modern intensive care medicine. Long-term intubation is associated with aspiration and swallowing disorders. Early and standardised dysphagia management should be initiated during a patient's stay on intensive care unit. A clinically experienced, interdisciplinary team is required to provide optimal care for critically ill patients with dysphagia. Intensive care physicians should therefore know about basics in dysphagiology.

Destination Memory in Korsakoff's Syndrome.

PubMed

El Haj, Mohamad; Kessels, Roy P C; Matton, Christian; Bacquet, Jean-Eudes; Urso, Laurent; Cool, Gaëlle; Guidez, Florence; Potier, Stéphanie; Nandrino, Jean-Louis; Antoine, Pascal

2016-06-01

Context memory, or the ability to remember the context in which an episodic event has occurred (e.g., where and when an event took place), has been found to be compromised in Korsakoff's syndrome. This study examined whether a similar deficit would be observed for destination memory, that is, the ability to remember to whom an information was previously transmitted. Patients with Korsakoff's syndrome and healthy controls were instructed to tell proverbs to pictures of celebrities. In a subsequent recognition test, they had to indicate to which celebrity they had previously told the proverbs. Participants also completed a neuropsychological battery including a binding task in which they were required to associate letters with their correspondent locations to assess context memory. Results showed worse binding and destination memory in patients with Korsakoff's syndrome than in controls. In the Korsakoff group, destination memory was significantly correlated with and predicted by performances on the binding task. The binding process seems to be impaired in Korsakoff's syndrome, a deficit that may account for the destination memory compromise in the syndrome, and probably, for the difficulty to retrieve the "where and when" of an encountered event. Copyright © 2016 by the Research Society on Alcoholism.

Skin findings in Williams syndrome.

PubMed

Kozel, Beth A; Bayliss, Susan J; Berk, David R; Waxler, Jessica L; Knutsen, Russell H; Danback, Joshua R; Pober, Barbara R

2014-09-01

Previous examination in a small number of individuals with Williams syndrome (also referred to as Williams-Beuren syndrome) has shown subtly softer skin and reduced deposition of elastin, an elastic matrix protein important in tissue recoil. No quantitative information about skin elasticity in individuals with Williams syndrome is available; nor has there been a complete report of dermatologic findings in this population. To fill this knowledge gap, 94 patients with Williams syndrome aged 7-50 years were recruited as part of the skin and vascular elasticity (WS-SAVE) study. They underwent either a clinical dermatologic assessment by trained dermatologists (2010 WSA family meeting) or measurement of biomechanical properties of the skin with the DermaLab™ suction cup (2012 WSA family meeting). Clinical assessment confirmed that soft skin is common in this population (83%), as is premature graying of the hair (80% of those 20 years or older), while wrinkles (92%), and abnormal scarring (33%) were detected in larger than expected proportions. Biomechanical studies detected statistically significant differences in dP (the pressure required to lift the skin), dT (the time required to raise the skin through a prescribed gradient), VE (viscoelasticity), and E (Young's modulus) relative to matched controls. The RT (retraction time) also trended longer but was not significant. The biomechanical differences noted in these patients did not correlate with the presence of vascular defects also attributable to elastin insufficiency (vascular stiffness, hypertension, and arterial stenosis) suggesting the presence of tissue specific modifiers that modulate the impact of elastin insufficiency in each tissue. © 2014 Wiley Periodicals, Inc.

[Two cases of "scombroid syndrome" with severe cardiovascular compromise].

PubMed

Ascione, A; Barresi, L S; Sarullo, F M; De Silvestre, G

1997-12-01

Two cases of severe intoxication after ingestion of cooked tuna fish were observed. Symptoms and clinical signs were consistent with the scombroid syndrome. Cardiovascular shock was observed in both patients and was associated with subendocardial myocardial infarction in 1 case and acute pulmonary edema with myocardial ischemia in the other. The importance of ECG monitoring in the Intensive Coronary Care Unit is stressed.

Magnetic resonance imaging in Tietze's syndrome.

PubMed

Volterrani, L; Mazzei, M A; Giordano, N; Nuti, R; Galeazzi, M; Fioravanti, A

2008-01-01

To evaluate the usefulness of magnetic resonance imaging (MRI) in Tietze's syndrome which, to our knowledge, has not previously been reported in the literature. Twelve consecutive outpatients with clinical features of Tietze's syndrome underwent evaluation, including the anamnesis, clinical general examination, clinical evaluation of costosternal and sternoclavicular joints (SCJ) and biochemical and instrumental investigations. Twenty normal subjects age- and sex-matched to the patients' group were examined in a similar manner. MRI of costosternal and SCJ was performed using a 1.5 Tesla unit (Gyroscan NT 1.5 Philips, The Netherlands and GE Signa Excite HD, GE Healthcare, Milwaukee, Wis., USA). The MRI pattern of primary Tietze's syndrome was characterized as follows: enlargement and thickening of cartilage at the site of complaint (12/12 patients); focal or widespread increased signal intensities of affected cartilage on both TSE T2-weighted and STIR or FAT SAT images (10/12 patients); bone marrow oedema in the subcondral bone (5/12 patients); vivid gadolinium uptake in the areas of thickened cartilage, in the subcondral bone marrow and/or in capsule and ligaments (10/12, 4/12 and 7/12 patients respectively). Magnetic resonance is an excellent technique to evidence both the cartilage and bone abnormalities, therefore it represents the elective method in the investigation of primary Tietze's syndrome, due to its high sensitivity, diagnostic reliability and biological advantages thanks to the lack of ionizing radiation.

Cardiovascular risk in Turner syndrome.

PubMed

Donato, Beatriz; Ferreira, Maria João

2018-06-01

Turner syndrome is a relatively common genetic disorder of female development, characterized by partial or complete absence of an X chromosome, with a variable clinical presentation. Congenital or acquired cardiovascular disease is highly prevalent and a major cause of early death in this syndrome. The most feared complication is aortic dissection, which can occur at a very young age and requires careful assessment of its risk factors. A systematic literature search identified sixty relevant publications. These were reviewed with regard to the increased risk of cardiovascular disease in women with Turner syndrome, especially in pregnancy. The most common congenital cardiovascular defects are presented and illustrated with appropriate iconography. The current recommendations regarding the screening and monitoring of cardiovascular disease in these patients are discussed. Copyright © 2018 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

Cost-effectiveness analysis of ultrasonography screening for nonalcoholic fatty liver disease in metabolic syndrome patients

PubMed Central

Phisalprapa, Pochamana; Supakankunti, Siripen; Charatcharoenwitthaya, Phunchai; Apisarnthanarak, Piyaporn; Charoensak, Aphinya; Washirasaksiri, Chaiwat; Srivanichakorn, Weerachai; Chaiyakunapruk, Nathorn

2017-01-01

Abstract Background: Nonalcoholic fatty liver disease (NAFLD) can be diagnosed early by noninvasive ultrasonography; however, the cost-effectiveness of ultrasonography screening with intensive weight reduction program in metabolic syndrome patients is not clear. This study aims to estimate economic and clinical outcomes of ultrasonography in Thailand. Methods: Cost-effectiveness analysis used decision tree and Markov models to estimate lifetime costs and health benefits from societal perspective, based on a cohort of 509 metabolic syndrome patients in Thailand. Data were obtained from published literatures and Thai database. Results were reported as incremental cost-effectiveness ratios (ICERs) in 2014 US dollars (USD) per quality-adjusted life year (QALY) gained with discount rate of 3%. Sensitivity analyses were performed to assess the influence of parameter uncertainty on the results. Results: The ICER of ultrasonography screening of 50-year-old metabolic syndrome patients with intensive weight reduction program was 958 USD/QALY gained when compared with no screening. The probability of being cost-effective was 67% using willingness-to-pay threshold in Thailand (4848 USD/QALY gained). Screening before 45 years was cost saving while screening at 45 to 64 years was cost-effective. Conclusions: For patients with metabolic syndromes, ultrasonography screening for NAFLD with intensive weight reduction program is a cost-effective program in Thailand. Study can be used as part of evidence-informed decision making. Translational Impacts: Findings could contribute to changes of NAFLD diagnosis practice in settings where economic evidence is used as part of decision-making process. Furthermore, study design, model structure, and input parameters could also be used for future research addressing similar questions. PMID:28445256

[Evidence level and grade of recommendation of the Ponseti method for arthrogryposis-related syndromic talipes equinovarus and Moebius syndrome: a systematic review].

PubMed

Guerra-Jasso, J J; Valcarce-León, J A; Quíntela-Núñez-Del Prado, H M

2017-01-01

Adduct congenital talipes equinovarus (CTE) or clubfoot is a common musculoskeletal malformation affecting between 1 and 4.5 out of every 1000 live births. It is usually associated with arthrogryposis and Moebius syndrome with the latter two being more difficult to treat as they require aggressive surgery to achieve a plantigrade foot. We therefore ask what is the evidence level and grade of recommendation of the Ponseti method to treat syndromic talipes equinovarus resulting from arthrogryposis and Moebius syndrome. Systematic review according to the recommendations of the Cochrane group identifying medical subheadings (MeSH) and of the Boolean method to identify the articles that met the selection criteria through the search of primary sources such as OVID, Cochrane, EBSCOhost, Elsevier, Medigraphic. A total of six papers met the selection criteria through the search in the primary sources. Five of them address the treatment of adduct CTE with the Ponseti method in patients with arthrogryposis, and one in patients with Moebius. Evidence levels and grades of recommendation of these papers were: IV-D (3), III-D (1) y II (B). The Ponseti method is an first-line treatment for arthrogryposis and Moebius syndrome. It is unexpensive, non-invasive and does not require a physician to perform it (however, it does require trained staff). Its use is recommended as it avoids extensive surgeries and medical complications that go beyond the hospitals economic possibilities.

Management of Behçet's syndrome.

PubMed

Ozguler, Yesim; Hatemi, Gulen

2016-01-01

Current trends in the management of Behçet's syndrome will be reviewed in this article. Biologic agents have gained increasing importance over the years in the management of Behçet's syndrome. Long-term results of observational studies have shown that anti-tumor necrosis factor agents may be effective in Behçet's syndrome patients with refractory eye involvement. Case series reporting about use of anti-tumor necrosis factor agents in vascular and gastrointestinal involvement have also shown good results. Caution is required for infectious complications with these agents. Apremilast is an immunomodulatory agent that works through phosphodiesterase 4 inhibition. A randomized controlled trial has shown that it is effective for the management of oral and genital ulcers and is generally well tolerated. The outcome of Behçet's syndrome with major organ involvement has improved with more effective management strategies, especially with the use of biologic agents in severe cases. Controlled trials are needed to guide physicians in making treatment decisions.

The presence of resilience is associated with a healthier psychological profile in intensive care unit (ICU) nurses: results of a national survey.

PubMed

Mealer, Meredith; Jones, Jacqueline; Newman, Julia; McFann, Kim K; Rothbaum, Barbara; Moss, Marc

2012-03-01

ICU nurses are repeatedly exposed to work related stresses resulting in the development of psychological disorders including posttraumatic stress disorder and burnout syndrome. Resilience is a learnable multidimensional characteristic enabling one to thrive in the face of adversity. In a national survey, we sought to determine whether resilience was associated with healthier psychological profiles in intensive care unit nurses. Surveys were mailed to 3500 randomly selected ICU nurses across the United States and included: demographic questions, the Posttraumatic Diagnostic Scale, Hospital Anxiety and Depression Scale, Maslach Burnout Inventory and the Connor-Davidson Resilience Scale. Overall, 1239 of the mailed surveys were returned for a response rate of 35%, and complete data was available on a total of 744 nurses. Twenty-two percent of the intensive care unit nurses were categorized as being highly resilient. The presence of high resilience in these nurses was significantly associated with a lower prevalence of posttraumatic stress disorder, symptoms of anxiety or depression, and burnout syndrome (<0.001 for all comparisons). In independent multivariable analyses adjusting for five potential confounding variables, the presence of resilience was independently associated with a lower prevalence of posttraumatic stress disorder (p<0.001), and a lower prevalence of burnout syndrome (p<0.001). The presence of psychological resilience was independently associated with a lower prevalence of posttraumatic stress disorder and burnout syndrome in intensive care unit nurses. Future research is needed to better understand coping mechanisms employed by highly resilient nurses and how they maintain a healthier psychological profile. Copyright © 2011 Elsevier Ltd. All rights reserved.

48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome

PubMed Central

Tartaglia, Nicole; Ayari, Natalie; Howell, Susan; D’Epagnier, Cheryl; Zeitler, Philip

2012-01-01

Sex chromosome tetrasomy and pentasomy conditions occur in 1:18 000–1:100 000 male births. While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes are associated with additional physical findings, congenital malformations, medical problems and psychological features. While the spectrum of cognitive abilities extends much higher than originally described, developmental delays, cognitive impairments and behavioural disorders are common and require strong treatment plans. Future research should focus on genotype–phenotype relationships and the development of evidence-based treatments. Conclusion The more complex physical, medical and psychological phenotypes of 48,XXYY, 48,XXXY and 49,XXXXY syndromes make distinction from 47,XXY important; however, all of these conditions share features of hypergonadotropic hypogonadism and the need for increased awareness, biomedical research and the development of evidence-based treatments. PMID:21342258

[Rectal cancer and Trousseau syndrome. Case report].

PubMed

Sierra-Montenegro, Ernesto; Sierra-Luzuriaga, Gastón; Calle-Loffredo, Daniel; Rodríguez Quinde, Miguel

2013-01-01

The Trousseau syndrome, first described in 1865, is the relationship of venous thromboembolisms and cancer. We present a case with rectal cancer and Trousseau syndrome. Female 40 years old, went to the Coloproctology Service for painless bleeding. A computed tomography report showed a tumor of 5 by 6 cm up 5 cm from the anal margin. Ultra-low anterior resection with colonic reservoir and loop ileostomy surgery was performed. The pathology report showed a semidiferenciate adenocarcinoma of the rectum and we established the stage as T3N0M0. Within 72 hours of her operation, she experienced sudden hypotension and painful abdominal distention. A second surgery was done finding necrosis of the colon from the splenic angle until the colonic reservoir with thrombi in the left colic artery, ischemic signs of bilateral fallopian tubes, ovaries, uterus, pelvic floor and the small intestine, 40 cm before ileostomy and ileon. Left hemicolectomy and colostomy was done. She was taken to intensive care where continuous administration of heparin was given; she died within 5 days because of multiorgan failure. The mechanism for this syndrome was unknown but there are several hypotheses, suggesting that hematological cancer patients are at an increased risk of deep vein thrombosis. Pancreatic cancer is the most common presentation with this syndrome (in 50% of cases). We suggested continuing with the standards of prevention of thromboembolism.

Clival osteomyelitis and hypoglossal nerve palsy--rare complications of Lemierre's syndrome.

PubMed

He, Jingzhou; Lam, Jonathan Chun Leuk; Adlan, Tarig

2015-08-30

An increasingly reported entity, Lemierre's syndrome classically presents with a recent oropharyngeal infection, internal jugular vein thrombosis and the presence of anaerobic organisms such as Fusobacterium necrophorum. The authors report a normally fit and well 17-year-old boy who presented with severe sepsis following a 5-day history of a sore throat, myalgia and neck stiffness requiring intensive care admission. Blood cultures grew F. necrophorum and radiological investigations demonstrated left internal jugular vein, cavernous sinus and sigmoid sinus thrombus, left vertebral artery dissection and thrombus within the left internal carotid artery. Imaging also revealed two areas of acute ischaemia in the brain, consistent with septic emboli, skull base (clival) osteomyelitis and an extensive epidural abscess. The patient improved on meropenem and metronidazole and was warfarinised for his cavernous sinus thrombosis. He has an on-going left-sided hypoglossal (XIIth) nerve palsy. 2015 BMJ Publishing Group Ltd.

Anaesthetic management in Gorlin-Goltz syndrome.

PubMed

Gosavi, Kundan S; Mundada, Surbhi D

2012-07-01

Gorlin-Goltz syndrome is a rare autosomal-dominant syndrome related to mutation in "Patched" tumour suppressor gene on chromosome 9. Basocellular carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri are its major features, along with more than 100 minor features. Odontogenic cysts, notorious for recurrence, can make endotracheal intubation difficult, requiring modification of the standard intubation technique. We report such a case managed successfully by awake fibreoptic intubation. Direct laryngoscopy under anaesthesia later confirmed that it was a good decision.

The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

PubMed

Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

2015-06-01

The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. © 2015 Wiley Periodicals, Inc.

Insulin resistance syndrome in children.

PubMed

Ten, Svetlana; Maclaren, Noel

2004-06-01

The insulin resistance syndrome (syndrome X, metabolic syndrome) has become the major health problem of our times. Associated obesity, dyslipidemia, atherosclerosis, hypertension, and type 2 diabetes conspire to shorten life spans, while hyperandrogenism with polycystic ovarian syndrome affect the quality of life and fertility of increasing numbers of women. Whereas a growing number of single genetic diseases affecting satiety or energy metabolism have been found to produce the clinical phenotype, strong familial occurrences, especially in racially prone groups such as those from the Indian subcontinent, or individuals of African, Hispanic, and American Indian descents, together with emerging genetic findings, are revealing the polygenetic nature of the syndrome. However, the strong lifestyle factors of excessive carbohydrate and fat consumption and lack of exercise are important keys to the phenotypic expression of the syndrome. The natural history includes small for gestational age birth weight, excessive weight gains during childhood, premature pubarche, an allergic diathesis, acanthosis nigricans, striae compounded by gynecomastia, hypertriglyceridemia, hepatic steatosis, premature atherosclerosis, hypertension, polycystic ovarian syndrome, and focal glomerulonephritis appearing increasingly through adolescence into adulthood. Type 2 diabetes, which develops because of an inherent and/or an acquired failure of an insulin compensatory response, is increasingly seen from early puberty onward, as is atheromatous disease leading to coronary heart disease and stroke. A predisposition to certain cancers and Alzheimer's disease is also now recognized. The looming tragedy from growing numbers of individuals affected by obesity/insulin resistance syndrome requires urgent public health approaches directed at their early identification and intervention during childhood. Such measures include educating the public on the topic, limiting the consumption of sucrose

An Integrated Soft Computing Approach to Hughes Syndrome Risk Assessment.

PubMed

Vilhena, João; Rosário Martins, M; Vicente, Henrique; Grañeda, José M; Caldeira, Filomena; Gusmão, Rodrigo; Neves, João; Neves, José

2017-03-01

The AntiPhospholipid Syndrome (APS) is an acquired autoimmune disorder induced by high levels of antiphospholipid antibodies that cause arterial and veins thrombosis, as well as pregnancy-related complications and morbidity, as clinical manifestations. This autoimmune hypercoagulable state, usually known as Hughes syndrome, has severe consequences for the patients, being one of the main causes of thrombotic disorders and death. Therefore, it is required to be preventive; being aware of how probable is to have that kind of syndrome. Despite the updated of antiphospholipid syndrome classification, the diagnosis remains difficult to establish. Additional research on clinically relevant antibodies and standardization of their quantification are required in order to improve the antiphospholipid syndrome risk assessment. Thus, this work will focus on the development of a diagnosis decision support system in terms of a formal agenda built on a Logic Programming approach to knowledge representation and reasoning, complemented with a computational framework based on Artificial Neural Networks. The proposed model allows for improving the diagnosis, classifying properly the patients that really presented this pathology (sensitivity higher than 85%), as well as classifying the absence of APS (specificity close to 95%).

Munchausen's syndrome in obstetrics and gynecology: a review.

PubMed

Edi-Osagie, E C; Hopkins, R E; Edi-Osagie, N E

1998-01-01

Nineteen review articles and case reports were identified and reviewed through August 1996 in Index Medicus, MEDLINE (English and foreign language), conference abstracts, and bibliographies from major articles, textbooks and reviews, to review Munchausen's syndrome in obstetrics and gynecology. In these 19 articles, 30 reported cases of the syndrome were identified in obstetric and gynecological patients. This survey found that the presentation varied, diagnosis was difficult, treatment was unclear, and the economic burden was enormous. Increasingly, this syndrome is becoming an important clinical entity in the specialty, and requires a high index of suspicion to improve detection and optimize treatment.

Metabolic Syndrome and Cardiovascular Risk Factors after Hematopoietic Cell Transplantation in Severe Mucopolysaccharidosis Type I (Hurler Syndrome).

PubMed

Braunlin, Elizabeth; Steinberger, Julia; DeFor, Todd; Orchard, Paul; Kelly, Aaron S

2018-06-01

Hematopoietic cell transplantation is a life-saving procedure, but one associated with increasing long-term cardiovascular risk requiring frequent long-term follow-up. This therapy has significantly lengthened survival in mucopolysaccharidosis type IH (Hurler syndrome), a disease with known coronary artery involvement. Metabolic syndrome-a constellation of central obesity, high blood pressure, low high-density lipoprotein cholesterol, elevated triglycerides, and fasting blood glucose-is associated with increased cardiovascular risk, and occurs when any 3 or more of these 5 components is present within a single individual. The incidence of metabolic syndrome and its components is poorly defined after transplantation for Hurler syndrome. Chart review of all long-term survivors of hematopoietic cell transplantation for Hurler syndrome ≥9 years of age for factors comprising the metabolic syndrome: obesity, high blood pressure, low high-density lipoprotein cholesterol, elevated triglycerides, and fasting blood glucose. Sixty-three patients were evaluated, 20 of whom had components of the metabolic syndrome available for review. There was no significant difference in age at transplantation, sex, number of transplants, pretransplant radiation, or percent engraftment between those with and without these data. Median follow-up after transplantation for the 20 patients with data was 14.3 years. Only 1 (5%) patient of this group fulfilled the criteria for metabolic syndrome. Fifty-three percent of the patients had 1 or more components of metabolic syndrome: the most common was high blood pressure occurring in 40%. Metabolic syndrome is uncommon in this cohort of long-term survivors of hematopoietic cell transplantation for Hurler syndrome but almost half of the patients had 1 or more components of the syndrome, with high blood pressure being the most common. Further studies are needed to develop guidelines in this diagnosis as well as other nonmalignant diseases of children

What is the relationship between exercise and metabolic abnormalities? A review of the metabolic syndrome.

PubMed

Carroll, Sean; Dudfield, Mike

2004-01-01

Prevention of the metabolic syndrome and treatment of its main characteristics are now considered of utmost importance in order to combat the epidemic of type 2 diabetes mellitus and to reduce the increased risk of cardiovascular disease and all-cause mortality. Insulin resistance/hyperinsulinaemia are consistently linked with a clustering of multiple clinical and subclinical metabolic risk factors. It is now widely recognised that obesity (especially abdominal fat accumulation), hyperglycaemia, dyslipidaemia and hypertension are common metabolic traits that, concurrently, constitute the distinctive insulin resistance or metabolic syndrome. Cross-sectional and prospective data provide an emerging picture of associations of both physical activity habits and cardiorespiratory fitness with the metabolic syndrome. The metabolic syndrome, is a disorder that requires aggressive multi-factorial intervention. Recent treatment guidelines have emphasised the clinical utility of diagnosis and an important treatment role for 'therapeutic lifestyle change', incorporating moderate physical activity. Several previous narrative reviews have considered exercise training as an effective treatment for insulin resistance and other components of the syndrome. However, the evidence cited has been less consistent for exercise training effects on several metabolic syndrome variables, unless combined with appropriate dietary modifications to achieve weight loss. Recently published randomised controlled trial data concerning the effects of exercise training on separate metabolic syndrome traits are evaluated within this review. Novel systematic review and meta-analysis evidence is presented indicating that supervised, long-term, moderate to moderately vigorous intensity exercise training, in the absence of therapeutic weight loss, improves the dyslipidaemic profile by raising high density lipoprotein-cholesterol and lowering triglycerides in overweight and obese adults with characteristics

Outcomes of male patients with Alport syndrome undergoing renal replacement therapy.

PubMed

Temme, Johanna; Kramer, Anneke; Jager, Kitty J; Lange, Katharina; Peters, Frederick; Müller, Gerhard-Anton; Kramar, Reinhard; Heaf, James G; Finne, Patrik; Palsson, Runolfur; Reisæter, Anna V; Hoitsma, Andries J; Metcalfe, Wendy; Postorino, Maurizio; Zurriaga, Oscar; Santos, Julio P; Ravani, Pietro; Jarraya, Faical; Verrina, Enrico; Dekker, Friedo W; Gross, Oliver

2012-12-01

Patients with the hereditary disease Alport syndrome commonly require renal replacement therapy (RRT) in the second or third decade of life. This study compared age at onset of RRT, renal allograft, and patient survival in men with Alport syndrome receiving various forms of RRT (peritoneal dialysis, hemodialysis, or transplantation) with those of men with other renal diseases. Patients with Alport syndrome receiving RRT identified from 14 registries in Europe were matched to patients with other renal diseases. A linear spline model was used to detect changes in the age at start of RRT over time. Kaplan-Meier method and Cox regression analysis were used to examine patient and graft survival. Age at start of RRT among patients with Alport syndrome remained stable during the 1990s but increased by 6 years between 2000-2004 and 2005-2009. Survival of patients with Alport syndrome requiring dialysis or transplantation did not change between 1990 and 2009. However, patients with Alport syndrome had better renal graft and patient survival than matched controls. Numbers of living-donor transplantations were lower in patients with Alport syndrome than in matched controls. These data suggest that kidney failure in patients with Alport syndrome is now being delayed compared with previous decades. These patients appear to have superior patient survival while undergoing dialysis and superior patient and graft survival after deceased-donor kidney transplantation compared with patients receiving RRT because of other causes of kidney failure.

Aortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and Dissections

PubMed Central

Cury, Marcelo; Zeidan, Fernanda; Lobato, Armando C.

2013-01-01

There are many genetic syndromes associated with the aortic aneurysmal disease which include Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), Loeys-Dietz syndrome (LDS), familial thoracic aortic aneurysms and dissections (TAAD), bicuspid aortic valve disease (BAV), and autosomal dominant polycystic kidney disease (ADPKD). In the absence of familial history and other clinical findings, the proportion of thoracic and abdominal aortic aneurysms and dissections resulting from a genetic predisposition is still unknown. In this study, we propose the review of the current genetic knowledge in the aortic disease, observing, in the results that the causative genes and molecular pathways involved in the pathophysiology of aortic aneurysm disease remain undiscovered and continue to be an area of intensive research. PMID:23401778

Polycystic ovarian syndrome.

PubMed

Madnani, Nina; Khan, Kaleem; Chauhan, Phulrenu; Parmar, Girish

2013-01-01

Polycystic ovarian syndrome (PCOS) is a "multispeciality" disorder suspected in patients with irregular menses and clinical signs of hyperandrogenism such as acne, seborrhoea, hirsutism, irregular menses, infertility, and alopecia. Recently, PCOS has been associated with the metabolic syndrome. Patients may develop obesity, insulin resistance, acanthosis nigricans, Type 2 diabetes, dyslipidemias, hypertension, non-alcoholic liver disease, and obstructive sleep apnoea. Good clinical examination with hematological and radiological investigations is required for clinical evaluation. Management is a combined effort involving a dermatologist, endocrinologist, gynecologist, and nutritionist. Morbidity in addition includes a low "self image" and poor quality of life. Long term medications and lifestyle changes are essential for a successful outcome. This article focuses on understanding the normal and abnormal endocrine functions involved in the pathogenesis of PCOS. Proper diagnosis and management of the patient is discussed.

[Obesity hypoventilation syndrome--serious but reversible providing weight is lost].

PubMed

Gaytant, Michael A; Westermann, Erik J A; Zelissen, Pierre M J; Kampelmacher, Mike J

2011-01-01

Obesity hypoventilation syndrome (OHS) is a condition in which obesity and chronic hypoventilation during waking hours are combined. Patients with OHS are more likely to be hospitalized and to require intensive-care monitoring compared with patients with similar degrees of obesity without hypoventilation. Treatment with chronic non-invasive positive pressure ventilation (NPPV) is associated with a lower morbidity and mortality. We present 2 cases of OHS; in the first case, a 56-year-old woman, we show that it is very important to diagnose and treat OHS at an early stage in order to avoid severe morbidity. In the second case, a 31-year-old man, we show that if a patient with OHS and chronic NPPV looses a significant amount of weight NPPV can be discontinued. Patients with OHS should be treated in a multidisciplinary team in order to achieve significant weight loss, so NPPV could be a temporary treatment or even be avoided.

Brugada syndrome: More than 20 years of scientific excitement.

PubMed

Brugada, Pedro

2016-03-01

In 1992 we reported on eight patients with a particular electrocardiograph (ECG) showing ST segment elevation in the right precordial leads. All patients had a structurally normal heart and had survived one or multiple episodes of near sudden death caused by ventricular fibrillation. We showed 6 years later that this disease, known nowadays as Brugada syndrome, was caused by mutations in the SCN5A gene which encodes for the cardiac sodium channel. Other genes where mutations result in the same ECG have been also identified, with at present more than 17 different genes published. These data show that Brugada syndrome is a genetically heterogeneous disease as is also the case in the long QT syndrome. In Brugada syndrome, the clue to the initial clinical diagnosis remains the abnormal ECG. However, it was evident from the beginning that the ECG of Brugada syndrome is variable and sensitive to many autonomic, drug, exercise, emotions and other external influences such as a meal, fever, changes in heart rate from any cause, and even body position. When followed intensively, all patients with a Brugada ECG will show a completely normal ECG at one or another moment in their lives. The spontaneous normalization of the ECG represents a major diagnostic challenge, because a patient with Brugada syndrome seen during normalization of the ECG may fail to get the correct diagnosis. In these more than 20 years great challenges have been overcome but some remain, mainly the approach to the asymptomatic individual with a diagnosis of Brugada syndrome. In 30-50% of individuals who die suddenly because of documented or suspected Brugada syndrome, sudden death is the first manifestation of the disease. Thus, these individuals were fully asymptomatic until the first fatal event. Copyright © 2015. Published by Elsevier Ltd.

The metabolic syndrome in polycystic ovary syndrome.

PubMed

Essah, P A; Nestler, J E

2006-03-01

Much overlap is present between the polycystic ovary syndrome (PCOS) and the metabolic syndrome. This article reviews the existing data regarding the prevalence, characteristics, and treatment of the metabolic syndrome in women with PCOS. The prevalence of the metabolic syndrome in PCOS is approximately 43-47%, a rate 2-fold higher than that for women in the general population. High body mass index and low serum HDL cholesterol are the most frequently occurring components of the metabolic syndrome in PCOS. The pathogenic link between the metabolic syndrome and PCOS is most likely insulin resistance. Therefore, the presence of the metabolic syndrome in PCOS suggests a greater degree of insulin resistance compared to PCOS without the metabolic syndrome. Obesity, atherogenic dyslipidemia, hypertension, impaired fasting glucose/impaired glucose tolerance, and vascular abnormalities are all common metabolic abnormalities present in PCOS. Lifestyle modification has proven benefit and pharmacological therapy with insulin-sensitizing agents has potential benefit in the treatment of the metabolic syndrome in women with PCOS.

The otolaryngologic manifestations of Sotos syndrome.

PubMed

Gaudreau, Philip; Zizak, Vincent; Gallagher, Thomas Q

2013-11-01

Soto's syndrome is a genetic disorder caused by mutations in the NSD1 gene. It is characterized by excessive growth in early life. It features craniofacial abnormalities, developmental delay, hypotonia and advanced bone age. A review of the current literature reveals only chronic otitis media and conductive hearing loss as otolaryngologic manifestations of Soto's syndrome. Our objective was to determine if there are additional manifestations relevant to the otolaryngologist. We performed a retrospective case series in which the Department of Defense electronic medical record was searched for ICD 9 code 253.0 (acromegaly/gigantism). Records were reviewed for genetic testing indicative of Soto's syndrome. These records were further analyzed for evidence of otolaryngologic problems. Seventeen patients were identified with five having confirmed NSD1 mutations consistent with Soto's syndrome. Of these, 4/5 had otolaryngologic problems such as conductive hearing loss, aspiration, laryngomalacia, obstructive sleep apnea and sensorineural hearing loss. Currently there is no description in the literature of these additional manifestations of Soto's syndrome. We present this case series to support the idea that an otolaryngologist should be involved in the multidisciplinary care required for these patients. Published by Elsevier Ireland Ltd.

Intra-Abdominal Hypertension and Abdominal Compartment Syndrome after Abdominal Wall Reconstruction: Quaternary Syndromes?

PubMed

Kirkpatrick, A W; Nickerson, D; Roberts, D J; Rosen, M J; McBeth, P B; Petro, C C; Berrevoet, Frederik; Sugrue, M; Xiao, Jimmy; Ball, C G

2017-06-01

Reconstruction with reconstitution of the container function of the abdominal compartment is increasingly being performed in patients with massive ventral hernia previously deemed inoperable. This situation places patients at great risk of severe intra-abdominal hypertension and abdominal compartment syndrome if organ failure ensues. Intra-abdominal hypertension and especially abdominal compartment syndrome may be devastating systemic complications with systematic and progressive organ failure and death. We thus reviewed the pathophysiology and reported clinical experiences with abnormalities of intra-abdominal pressure in the context of abdominal wall reconstruction. Bibliographic databases (1950-2015), websites, textbooks, and the bibliographies of previously recovered articles for reports or data relating to intra-abdominal pressure, intra-abdominal hypertension, and the abdominal compartment syndrome in relation to ventral, incisional, or abdominal hernia repair or abdominal wall reconstruction. Surgeons should thus consider and carefully measure intra-abdominal pressure and its resultant effects on respiratory parameters and function during abdominal wall reconstruction. The intra-abdominal pressure post-operatively will be a result of the new intra-peritoneal volume and the abdominal wall compliance. Strategies surgeons may utilize to ameliorate intra-abdominal pressure rise after abdominal wall reconstruction including temporizing paralysis of the musculature either temporarily or semi-permanently, pre-operative progressive pneumoperitoneum, permanently removing visceral contents, or surgically releasing the musculature to increase the abdominal container volume. In patients without complicating shock and inflammation, and in whom the abdominal wall anatomy has been so functionally adapted to maximize compliance, intra-abdominal hypertension may be transient and tolerable. Intra-abdominal hypertension/abdominal compartment syndrome in the specific setting of

Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

PubMed Central

Lo Muzio, Lorenzo

2008-01-01

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling). Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome). Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser ablation, photodynamic

Photochemical mechanisms of biological action of low-intensity laser irradiation

NASA Astrophysics Data System (ADS)

Klebanov, Gennady I.; Poltanov, Evgeny A.

2004-08-01

Low-intensity laser irradiation (LILI) is effectively used in clinical practice but the mechanisms of its stimulating action are still far from being understood completely and considered in the scientific literature only hypothetically. The main effects of LILI proved both in clinics and in experiments are bactericidal effect, vasodilatation, improved microcirculation, formation and growth of new microvessels, acceleration of wound healing, relieving of pain syndrome. We put forward a free radical conception underlying these effects. In this paper the experimental evidences of this conception is considered.

Ocular Features of Cerebro-Costo-Mandibular Syndrome.

PubMed

Hameed, Zoya; Taylor, Simon; Lindfield, Dan

2018-01-01

Cerebro-costo-mandibular syndrome (CCMS) is a rare hereditary disorder characterized by micrognathia, posterior rib gaps, and secondary developmental delay. Patients often require ventilation and feeding support throughout life. We describe the first reported ophthalmic findings of CCMS and propose that defects in choroidal permeability lead to chronic macular edema and refractory aqueous misdirection syndrome. Here we discuss the medical and surgical management concerns of recurrent angle closure and raised intraocular pressure in a CCMS patient.

Limb lengthening in Turner syndrome.

PubMed Central

Noonan, K. J.; Leyes, M.; Forriol, F.

1997-01-01

We report the results and complications of eight consecutive patients who underwent bilateral tibial lengthenings for dwarfism associated with Turner syndrome. Lengthening was performed via distraction osteogenesis with monolateral external fixation. Tibias were lengthened an average distance of 9.2 centimeters or 33 percent of the original tibial length. The average total treatment time was 268 days. The overall complication rate was 169 percent for each tibia lengthened and each segment required an average of 1.7 additional procedures. Seven cases (44 percent) required Achilles tendon lengthening and nine cases (56 percent) developed angulation before or after fixator removal; six of these segments required corrective osteotomy for axial malalignment. Two cases (12.5 percent) developed distraction site nonunion and required plating and bone grafting. From this series we conclude that tibial lengthening via distraction osteogenesis can be used to treat disproportionate short stature in patients with Turner syndrome. However, the benefit of a cosmetic increase in height may not compensate for the high complication rate. Efforts to determine the psychosocial and functional benefits of limb lengthening in patients with short stature is necessary to determine the true cost-benefit ratio of this procedure. Images Figure 1a Figure 1b Figure 1c PMID:9234980

A novel mitochondrial DNA 8597T>C mutation of Leigh syndrome: report of one case.

PubMed

Tsai, Jeng-Dau; Liu, Chin-San; Tsao, Teng-Fu; Sheu, Ji-Nan

2012-02-01

Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous system. The brain images of Leigh syndrome are characterized by markedly symmetrical involvement, most frequently of the putamen. We report a 2-year-old girl with Leigh syndrome manifested as acute onset of altered level of consciousness. Brain magnetic resonance images showed abnormal signal intensity over the bilateral basal ganglia and cerebellar dentate nuclei. Despite normal biochemical studies, in particular serum lactate levels, magnetic resonance spectroscopy demonstrated a downward doublet lactate peak. The diagnosis of Leigh syndrome was subsequently confirmed by genetic study which showed a novel mutation at 8597T>C of the mitochondrial ATPase6 gene. Copyright © 2012. Published by Elsevier B.V.

Dealing with emotions when the ability to cry is hampered: emotion processing and regulation in patients with primary Sjögren's syndrome.

PubMed

van Leeuwen, Ninke; Bossema, Ercolie R; van Middendorp, Henriët; Kruize, Aike A; Bootsma, Hendrika; Bijlsma, Johannes W J; Geenen, Rinie

2012-01-01

The hampered ability to cry in patients with Sjögren's syndrome may affect their ways of dealing with emotions. The aim of this study was to examine differences in emotion processing and regulation between people with and without Sjögren's syndrome and correlations of emotion processing and regulation with mental well-being. In 300 patients with primary Sjögren's syndrome and 100 demographically matched control participants (mean age 56.8 years, 93% female), emotion processing (affect intensity and alexithymia, i.e. difficulty identifying and describing feelings), emotion regulation (cognitive reappraisal, suppression and expression of emotions), and mental well-being were assessed. Criteria for clinical alexithymia applied to 22% of the patients and 12% of the control participants; patients had significantly more difficulty identifying feelings than control participants. No other significant differences in emotion processing and emotion regulation were found. In patients, the emotion processing styles affect intensity and alexithymia (0.32syndrome does not deviate from normal with one exception: a relatively large number of patients is alexithymic. As in the general population, in patients with Sjögren's syndrome the more intense and deficient processing and regulation of emotions is associated with worse mental well-being. This study indicates that, except for selected patients, processing and regulation of emotions is not a key therapeutic issue for the majority of patients with Sjögren's syndrome.

[Psychiatric disorders in intensive care units].

PubMed

Ampélas, J F; Pochard, F; Consoli, S M

2002-01-01

The diagnosis and treatment of psychiatric disorders in intensive care patients have been for a long time neglected. They are nowadays better recognized and managed. These disorders are mainly: delirium; anxiety disorders, from simple anxiety to panic disorder with agitation; adaptation disorders with depressive mood; brief psychotic disorders with persecution ideas. The manifestations of psychiatric disorders occur not only during the stay in intensive care unit (ICU) but also after transfer from ICU and several months after discharge from hospital. Part of psychiatric disorders is caused by organic or toxic causes (metabolic disturbances, electrolyte imbalance, withdrawal syndromes, infection, vascular disorders and head trauma). Nevertheless some authors estimate that they are due to the particular environment of ICU. The particularities of these units are: a high sound level (noise level average between 50 and 60 dBA), the absence of normal day-night cycle, a sleep deprivation, a sensory deprivation, the inability for intubated patients to talk, the pain provoked by some medical procedures, the possibility to witness other patients' death. Although most patients feel secure in ICU, some of them perceive ICU's environment as threatening. Simple environmental modifications could prevent the apparition of some psychiatric manifestations: efforts should be made to decrease noise generated by equipment and staff conversations, to provide external windows, visible clocks and calendar, to ensure adequate sleep with normal day-night cycle and to encourage more human contact. Psychotropic drugs are useful but a warm and empathetic attitude can be very helpful. Some authors described specific psychotherapeutic interventions in ICU (hypnosis, coping strategies.). To face anxiety, many patients have defense attitudes as psychological regression and denial. Patient's family is suffering too. Relative's hospitalization causes a crisis in family. Unpredicted illnesses often

Critical requirement for the Wiskott-Aldrich syndrome protein in Th2 effector function

USDA-ARS?s Scientific Manuscript database

The Wiskott-Aldrich syndrome protein (WASp) regulates actin polymerization via activation of Arp2/3 and plays a role in the dynamics of the immunological synapse. How these events influence subsequent gene expression and effector function is unclear. We studied the role of WASp in CD4+ T cell effe...

Central poststroke pain: somatosensory abnormalities and the presence of associated myofascial pain syndrome

PubMed Central

2012-01-01

Background Central post-stroke pain (CPSP) is a neuropathic pain syndrome associated with somatosensory abnormalities due to central nervous system lesion following a cerebrovascular insult. Post-stroke pain (PSP) refers to a broader range of clinical conditions leading to pain after stroke, but not restricted to CPSP, including other types of pain such as myofascial pain syndrome (MPS), painful shoulder, lumbar and dorsal pain, complex regional pain syndrome, and spasticity-related pain. Despite its recognition as part of the general PSP diagnostic possibilities, the prevalence of MPS has never been characterized in patients with CPSP patients. We performed a cross-sectional standardized clinical and radiological evaluation of patients with definite CPSP in order to assess the presence of other non-neuropathic pain syndromes, and in particular, the role of myofascial pain syndrome in these patients. Methods CPSP patients underwent a standardized sensory and motor neurological evaluation, and were classified according to stroke mechanism, neurological deficits, presence and profile of MPS. The Visual Analogic Scale (VAS), McGill Pain Questionnaire (MPQ), and Beck Depression Scale (BDS) were filled out by all participants. Results Forty CPSP patients were included. Thirty-six (90.0%) had one single ischemic stroke. Pain presented during the first three months after stroke in 75.0%. Median pain intensity was 10 (5 to 10). There was no difference in pain intensity among the different lesion site groups. Neuropathic pain was continuous-ongoing in 34 (85.0%) patients and intermittent in the remainder. Burning was the most common descriptor (70%). Main aggravating factors were contact to cold (62.5%). Thermo-sensory abnormalities were universal. MPS was diagnosed in 27 (67.5%) patients and was more common in the supratentorial extra-thalamic group (P <0.001). No significant differences were observed among the different stroke location groups and pain questionnaires and

Anaesthetic management in Gorlin-Goltz syndrome

PubMed Central

Gosavi, Kundan S; Mundada, Surbhi D

2012-01-01

Gorlin-Goltz syndrome is a rare autosomal-dominant syndrome related to mutation in “Patched” tumour suppressor gene on chromosome 9. Basocellular carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri are its major features, along with more than 100 minor features. Odontogenic cysts, notorious for recurrence, can make endotracheal intubation difficult, requiring modification of the standard intubation technique. We report such a case managed successfully by awake fibreoptic intubation. Direct laryngoscopy under anaesthesia later confirmed that it was a good decision. PMID:23087465

Ontogeny of polycystic ovary syndrome and insulin resistance in utero and early childhood

USDA-ARS?s Scientific Manuscript database

Polycystic ovary syndrome (PCOS) is a prevalent hyperandrogenic infertility and cardiometabolic disorder that increases a woman's lifetime risk of type 2 diabetes mellitus. It is heritable and intensely familial. Progress toward a cure has been delayed by absence of an etiology. Evidence is mounting...

Anakinra for cryopyrin-associated periodic syndrome.

PubMed

Koné-Paut, Isabelle; Galeotti, Caroline

2014-01-01

Cryopyrin-associated periodic syndrome (CAPS) is a very rare auto-inflammatory syndrome, which has recently served as a pure model of IL-1β-driven diseases. CAPS is caused by mutations into the NLRP3 gene that encodes crypoyrin, which serves as a receptor of the innate immunity that senses danger signals and pathogens. Constitutive activation of cryopyrin in CAPS leads to an excessive secretion of IL-1β. CAPS patients experience symptoms of systemic inflammation, intense fatigue and have poor quality of life. In the most severe forms, they may develop serious organ damage such as visual and hearing impairment, neurological deterioration and renal insufficiency. Anti-IL-1 drugs are effective in treating symptoms of almost all CAPS patients and have radically transformed their lives. We describe the history of the 'revival' of CAPS patients through anti-IL-1 treatments with a special focus on anakinra, the first drug used in cohorts with variable disease severity and number of patients.

Treatment of the first bite syndrome.

PubMed

Costales-Marcos, María; López Álvarez, Fernando; Fernández-Vañes, Laura; Gómez, Justo; Llorente, José Luis

First bite syndrome is a potential complication of surgery involving the infratemporal fossa, deep lobe of the parotid gland and parapharyngeal space. It is described as an acute and intense pain in the parotid region caused with the first bite of each meal. It is related to damage to sympathetic innervation of the parotid gland. Parasympathetic hyperactivation is believed to stimulate an exaggerated myoepithelial cell contraction causing pain. Usual analgesic treatments have poor results. Botulinum toxin type A causes parasympathetic nerve paralysis of the parotid gland and this fact would minimize salivation and decrease first bite syndrome. The aim of this study is to show the details of the technique and our outcomes in 5 patients treated with botulinum toxin type A. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.

The COMFORT-behavior scale is useful to assess pain and distress in 0- to 3-year-old children with Down syndrome.

PubMed

Valkenburg, Abraham J; Boerlage, Anneke A; Ista, Erwin; Duivenvoorden, Hugo J; Tibboel, Dick; van Dijk, Monique

2011-09-01

Many pediatric intensive care units use the COMFORT-Behavior scale (COMFORT-B) to assess pain in 0- to 3-year-old children. The objective of this study was to determine whether this scale is also valid for the assessment of pain in 0- to 3-year-old children with Down syndrome. These children often undergo cardiac or intestinal surgery early in life and therefore admission to a pediatric intensive care unit. Seventy-six patients with Down syndrome were included and 466 without Down syndrome. Pain was regularly assessed with the COMFORT-B scale and the pain Numeric Rating Scale (NRS). For either group, confirmatory factor analyses revealed a 1-factor model. Internal consistency between COMFORT-B items was good (Cronbach's α=0.84-0.87). Cutoff values for the COMFORT-B set at 17 or higher discriminated between pain (NRS pain of 4 or higher) and no pain (NRS pain below 4) in both groups. We concluded that the COMFORT-B scale is also valid for 0- to 3-year-old children with Down syndrome. This makes it even more useful in the pediatric intensive care unit setting, doing away with the need to apply another instrument for those children younger than 3. Copyright © 2011 International Association for the Study of Pain. Published by Elsevier B.V. All rights reserved.

Pendred syndrome.

PubMed

Wémeau, Jean-Louis; Kopp, Peter

2017-03-01

Pendred syndrome is an autosomal recessive disorder that is classically defined by the combination of sensorineural deafness/hearing impairment, goiter, and an abnormal organification of iodide with or without hypothyroidism. The hallmark of the syndrome is the impaired hearing, which is associated with inner ear malformations such as an enlarged vestibular aqueduct (EVA). The thyroid phenotype is variable and may be modified by the nutritional iodine intake. Pendred syndrome is caused by biallelic mutations in the SLC26A4/PDS gene, which encodes the multifunctional anion exchanger pendrin. Pendrin has affinity for chloride, iodide, and bicarbonate, among other anions. In the inner ear, pendrin functions as a chloride/bicarbonate exchanger that is essential for maintaining the composition and the potential of the endolymph. In the thyroid, pendrin is expressed at the apical membrane of thyroid cells facing the follicular lumen. Functional studies have demonstrated that pendrin can mediate iodide efflux in heterologous cells. This, together with the thyroid phenotype observed in humans (goiter, impaired iodine organification) suggests that pendrin could be involved in iodide efflux into the lumen, one of the steps required for thyroid hormone synthesis. Iodide efflux can, however, also occur in the absence of pendrin suggesting that other exchangers or channels are involved. It has been suggested that Anoctamin 1 (ANO1/TMEM16A), a calcium-activated anion channel, which is also expressed at the apical membrane of thyrocytes, could participate in mediating apical efflux. In the kidney, pendrin is involved in bicarbonate secretion and chloride reabsorption. While there is no renal phenotype under basal conditions, severe metabolic alkalosis has been reported in Pendred syndrome patients exposed to an increased alkali load. This review provides an overview on the clinical spectrum of Pendred syndrome, the functional data on pendrin with a focus on its potential role in

Predictors of Neurocognitive Syndromes in Combat Veterans

PubMed Central

Roy, Michael J; Gill, Jessica; Leaman, Suzanne; Law, Wendy; Ndiongue, Rochelle; Taylor, Patricia; Kim, Hyung-Suk; Bieler, Gayle S; Garge, Nikhil; Rapp, Paul E; Keyser, David; Nathan, Dominic; Xydakis, Michael; Pham, Dzung; Wassermann, Eric

2015-01-01

Traumatic brain injury, depression and posttraumatic stress disorder (PTSD) are neurocognitive syndromes often associated with impairment of physical and mental health, as well as functional status. These syndromes are also frequent in military service members (SMs) after combat, although their presentation is often delayed until months after their return. The objective of this prospective cohort study was the identification of independent predictors of neurocognitive syndromes upon return from deployment could facilitate early intervention to prevent disability. We completed a comprehensive baseline assessment, followed by serial evaluations at three, six, and 12 months, to assess for new-onset PTSD, depression, or postconcussive syndrome (PCS) in order to identify baseline factors most strongly associated with subsequent neurocognitive syndromes. On serial follow-up, seven participants developed at least one neurocognitive syndrome: five with PTSD, one with depression and PTSD, and one with PCS. On univariate analysis, 60 items were associated with syndrome development at p < 0.15. Decision trees and ensemble tree multivariate models yielded four common independent predictors of PTSD: right superior longitudinal fasciculus tract volume on MRI; resting state connectivity between the right amygdala and left superior temporal gyrus (BA41/42) on functional MRI; and single nucleotide polymorphisms in the genes coding for myelin basic protein as well as brain-derived neurotrophic factor. Our findings require follow-up studies with greater sample size and suggest that neuroimaging and molecular biomarkers may help distinguish those at high risk for post-deployment neurocognitive syndromes. PMID:26251769

Prevalence of burnout syndrome in clinical nurses at a hospital of excellence.

PubMed

Ribeiro, Vivian F; Filho, Celso Ferreira; Valenti, Vitor E; Ferreira, Marcelo; de Abreu, Luiz Carlos; de Carvalho, Tatiana Dias; Xavier, Valdelias; de Oliveira Filho, JapyAngeli; Gregory, Pedro; Leão, Eliseth Ribeiro; Francisco, Natascha G; Ferreira, Celso

2014-01-01

Burnout syndrome can be defined as long-term work stress resulting from the interaction between constant emotional pressure associated with intense interpersonal involvement for long periods of time and personal characteristics. We investigated the prevalence/propensity of Burnout syndrome in clinical nurses, and the factors related to Burnout syndrome-associated such as socio-demographic characteristics, work load, social and family life, leisure activities, extra work activities, physical activities, and work-related health problems. We conducted a cross-sectional, quantitative, prospective epidemiological study with 188 surgical clinic nurses. We used the Maslach Burnout Inventory (MBI), which is a socio-demographic questionnaire and the most widely used instrument to assess Burnout syndrome (three basic dimensions: emotional exhaustion, despersonalization and professional underachievement). The socio-demographic profile questionnaire wascomposed of questions regarding identification, training, time at work, work characteristics and personal circumstances. The prevalence of Burnout syndrome was higher (10.1%) and 55, 4% of subjects had a propensity to develop this syndrome. The analysis of the socio-demographic profile of the nurse sample studied showed that most nurses were childless married women, over 35 years of age, working the day shift for 36 hours weekly on average, with 2-6 years of post-graduation experience, and without extra employments. Factors such as marital status, work load, emotion and work related stress aggravated the onset of the syndrome. The prevalence and propensity of Burnout syndrome were high. Some factors identified can be useful for the adoption of preventive actions in order to decrease the prevalence of the clinical nurses Burnout syndrome.

Prevalence of burnout syndrome in clinical nurses at a hospital of excellence

PubMed Central

2014-01-01

Background Burnout syndrome can be defined as long-term work stress resulting from the interaction between constant emotional pressure associated with intense interpersonal involvement for long periods of time and personal characteristics. We investigated the prevalence/propensity of Burnout syndrome in clinical nurses, and the factors related to Burnout syndrome-associated such as socio-demographic characteristics, work load, social and family life, leisure activities, extra work activities, physical activities, and work-related health problems. Method We conducted a cross-sectional, quantitative, prospective epidemiological study with 188 surgical clinic nurses. We used the Maslach Burnout Inventory (MBI), which is a socio-demographic questionnaire and the most widely used instrument to assess Burnout syndrome (three basic dimensions: emotional exhaustion, despersonalization and professional underachievement). The socio-demographic profile questionnaire wascomposed of questions regarding identification, training, time at work, work characteristics and personal circumstances. Results The prevalence of Burnout syndrome was higher (10.1%) and 55, 4% of subjects had a propensity to develop this syndrome. The analysis of the socio-demographic profile of the nurse sample studied showed that most nurses were childless married women, over 35 years of age, working the day shift for 36 hours weekly on average, with 2-6 years of post-graduation experience, and without extra employments. Factors such as marital status, work load, emotion and work related stress aggravated the onset of the syndrome. Conclusion The prevalence and propensity of Burnout syndrome were high. Some factors identified can be useful for the adoption of preventive actions in order to decrease the prevalence of the clinical nurses Burnout syndrome. PMID:24860618

The Role of Bacteria, Probiotics and Diet in Irritable Bowel Syndrome

PubMed Central

Harper, Ashton; Naghibi, Malwina M.; Garcha, Davinder

2018-01-01

Irritable bowel syndrome is a highly prevalent gastrointestinal disorder that threatens the quality of life of millions and poses a substantial financial burden on healthcare systems around the world. Intense research into the human microbiome has led to fascinating discoveries which directly and indirectly implicate the diversity and function of this occult organ in irritable bowel syndrome (IBS) pathophysiology. The benefit of manipulating the gastrointestinal microbiota with diet and probiotics to improve symptoms has been demonstrated in a wealth of both animal and human studies. The positive and negative mechanistic roles bacteria play in IBS will be explored and practical probiotic and dietary choices offered. PMID:29373532

Gonadotrophin abnormalities in an infant with Lowe syndrome.

PubMed

Warner, Bronwen E; Inward, Carol D; Burren, Christine P

2017-01-01

This case, presenting with bilateral impalpable testes, illustrates the relevance of a broad differential disorders of sex development case management. It provides new insights on hypothalamic-pituitary-gonadal (HPG) axis and testicular function abnormalities in the multisystem disorder of Lowe syndrome. Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare disorder characterised by eye abnormalities, central nervous system involvement and proximal renal tubular acidosis. There are a handful of reports of pubertal delay, infertility and cryptorchidism in Lowe syndrome. Biochemistry aged 72 h: testosterone 6.4 nmol/L, LH <0.5 IU/L and FSH <0.5 IU/L. Gonadotropin-releasing hormone stimulation test identified significantly raised baseline LH = 45.4 IU/L (contrasts with earlier undetectable LH), with a 20% increase on stimulation, while baseline FSH = 4.3 IU/L with no increase on stimulation. Day 14 HCG stimulation test produced an acceptable 50% increase in testosterone. The constellation of further abnormalities suggested Lowe syndrome: hypotonia, bilateral cataracts (surgical extraction and intraocular lens implantation) and renal tubular acidosis (microscopic haematuria, hypercalciuria, proteinuria, generalised aminoaciduria, hypophosphataemia and metabolic acidosis). DNA sequencing identified de novo hemizygous frameshift mutation OCRL c.2409_2410delCT in exon 22. Interpretation of initial and repeat GnRH and HCG testing indicates the likelihood of testicular failure. Partial testicular descent occurred but left orchidopexy was required. Improving long-term gonadal function in Lowe syndrome assumes increased importance for current cohorts as advances in renal replacement therapy have greatly improved life expectancy. Noting HPG axis abnormalities in Lowe syndrome in infancy can identify cases requiring increased surveillance of pubertal progress for earlier detection and management. Clinical endocrine problems in Lowe syndrome has

Computer vision syndrome: a review.

PubMed

Blehm, Clayton; Vishnu, Seema; Khattak, Ashbala; Mitra, Shrabanee; Yee, Richard W

2005-01-01

As computers become part of our everyday life, more and more people are experiencing a variety of ocular symptoms related to computer use. These include eyestrain, tired eyes, irritation, redness, blurred vision, and double vision, collectively referred to as computer vision syndrome. This article describes both the characteristics and treatment modalities that are available at this time. Computer vision syndrome symptoms may be the cause of ocular (ocular-surface abnormalities or accommodative spasms) and/or extraocular (ergonomic) etiologies. However, the major contributor to computer vision syndrome symptoms by far appears to be dry eye. The visual effects of various display characteristics such as lighting, glare, display quality, refresh rates, and radiation are also discussed. Treatment requires a multidirectional approach combining ocular therapy with adjustment of the workstation. Proper lighting, anti-glare filters, ergonomic positioning of computer monitor and regular work breaks may help improve visual comfort. Lubricating eye drops and special computer glasses help relieve ocular surface-related symptoms. More work needs to be done to specifically define the processes that cause computer vision syndrome and to develop and improve effective treatments that successfully address these causes.

Medullary ischemia due to vertebral arteritis associated with Behçet syndrome: a case report.

PubMed

Kaido, Takanobu; Otsuki, Taisuke; Ogawa, Masafumi; Takahashi, Akio; Kaneko, Yuu; Yamamoto, Toshiyuki; Nakata, Yasuhiro

2012-09-01

Here we report an extremely rare case of Behçet syndrome (BS) that showed acute onset of Wallenberg syndrome and was treated successfully by corticosteroids. A 51-year-old woman with BS had a sudden onset of Wallenberg syndrome. Three days after the onset, she was transferred to our institute. In the magnetic resonance imaging (MRI) study on admission, T2-weighted and fluid-attenuated inversion recovery images showed a high intensity area in the left paramedian region of the medulla oblongata. Contrast-enhanced T1-weighted images showed enhancement in the vessel wall of the left vertebral artery. We diagnosed her as having Wallenberg syndrome due to the acute vertebral arteritis associated with BS. After initiation of high-dose steroid therapy, her symptoms gradually improved. Two months after admission, she was discharged from our institute with mild hemihypesthesia. We hypothesized that vertebral arteritis due to BS had caused hypoperfusion of the medullary perforators causing Wallenberg syndrome in our patient.

A Rare Variant of Wallenberg’s Syndrome: Opalski syndrome

PubMed Central

KK, Parathan; P, Chitrambalam; Aiyappan, Senthil Kumar; N, Deepthi

2014-01-01

Lateral Medullary Syndrome (LMS) is a well-documented vascular syndrome of the posterior circulation territory. This syndrome is easily localised because of characteristic presentation, unique territory of blood supply and very small area of involvement. We present a case of Wallenberg’s syndrome which did not have all the classical components of the syndrome, like Horner’s syndrome. Opalski syndrome is a rare variant of Wallenberg syndrome, where lateral medullary syndrome is associated with ipsilateral hemiparesis. This case report highlights how differential involvement of the lateral part of medulla can result in varied presentation. PMID:25177595

Mesenchymal stem cell therapy for acute radiation syndrome.

PubMed

Fukumoto, Risaku

2016-01-01

Acute radiation syndrome affects military personnel and civilians following the uncontrolled dispersal of radiation, such as that caused by detonation of nuclear devices and inappropriate medical treatments. Therefore, there is a growing need for medical interventions that facilitate the improved recovery of victims and patients. One promising approach may be cell therapy, which, when appropriately implemented, may facilitate recovery from whole body injuries. This editorial highlights the current knowledge regarding the use of mesenchymal stem cells for the treatment of acute radiation syndrome, the benefits and limitations of which are under investigation. Establishing successful therapies for acute radiation syndrome may require using such a therapeutic approach in addition to conventional approaches.

Outcomes of Male Patients with Alport Syndrome Undergoing Renal Replacement Therapy

PubMed Central

Temme, Johanna; Kramer, Anneke; Jager, Kitty J.; Lange, Katharina; Peters, Frederick; Müller, Gerhard-Anton; Kramar, Reinhard; Heaf, James G.; Finne, Patrik; Palsson, Runolfur; Reisæter, Anna V.; Hoitsma, Andries J.; Metcalfe, Wendy; Postorino, Maurizio; Zurriaga, Oscar; Santos, Julio P.; Ravani, Pietro; Jarraya, Faical; Verrina, Enrico; Dekker, Friedo W.

2012-01-01

Summary Background and objectives Patients with the hereditary disease Alport syndrome commonly require renal replacement therapy (RRT) in the second or third decade of life. This study compared age at onset of RRT, renal allograft, and patient survival in men with Alport syndrome receiving various forms of RRT (peritoneal dialysis, hemodialysis, or transplantation) with those of men with other renal diseases. Design, setting, participants, & measurements Patients with Alport syndrome receiving RRT identified from 14 registries in Europe were matched to patients with other renal diseases. A linear spline model was used to detect changes in the age at start of RRT over time. Kaplan-Meier method and Cox regression analysis were used to examine patient and graft survival. Results Age at start of RRT among patients with Alport syndrome remained stable during the 1990s but increased by 6 years between 2000–2004 and 2005–2009. Survival of patients with Alport syndrome requiring dialysis or transplantation did not change between 1990 and 2009. However, patients with Alport syndrome had better renal graft and patient survival than matched controls. Numbers of living-donor transplantations were lower in patients with Alport syndrome than in matched controls. Conclusions These data suggest that kidney failure in patients with Alport syndrome is now being delayed compared with previous decades. These patients appear to have superior patient survival while undergoing dialysis and superior patient and graft survival after deceased-donor kidney transplantation compared with patients receiving RRT because of other causes of kidney failure. PMID:22997344

The Turner Syndrome: Cognitive Deficits, Affective Discrimination, and Behavior Problems.

ERIC Educational Resources Information Center

McCauley, Elizabeth; And Others

1987-01-01

The study attemped to link cognitive and social problems seen in girls with Turner syndrome by assessing the girls' ability to process affective cues. Seventeen 9- to 17-year-old girls diagnosed with Turner syndrome were compared to a matched control group on a task which required interpretation of affective intention from facial expression.…

Duane Syndrome

MedlinePlus

... is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), is a congenital and non-progressive ... Is Duane syndrome congenital (present from birth)? Duane retraction syndrome is present from birth, even if it ...

Spine deformities in rare congenital syndromes: clinical issues.

PubMed

Campbell, Robert M

2009-08-01

A focused review of the literature with regard to the important system abnormalities of patients with spinal deformities associated with exotic congenital syndromes with additional data from the author's own experience in assessment of patients with rare syndromes treated for thoracic insufficiency syndrome. The objectives of this study are to emphasize important medical considerations that influence the choice of surgical treatment of spinal deformity in patients with exotic congenital syndromes and point out preoperative strategies that reduce treatment morbidity and mortality of these patients. Individual experience is limited in the treatment of spine abnormality in rare exotic syndromes and the medical aspects of these syndromes that may impact spinal treatment are seldom discussed in detail in the orthopedic literature. For a successful outcome in the treatment of spinal deformity in these unique patients, a working knowledge of the unique pitfalls in their medical care is necessary in order to avoid morbidity and mortality during their treatment. The literature was reviewed for 6 exotic congenital syndromes with known or unreported spinal abnormalities and the author's personal 22-years experience of the treatment of thoracic insufficiency syndrome in the relevant congenital syndromes was summarized. Children with Marfan syndrome and spinal deformity may have serious cardiac abnormalities. Spontaneous dissection of the aortic root is a clear danger and patients should be monitored by serial echocardiograms. Prophylactic cardiac surgery may be necessary before spinal surgery is to be performed. Patients with Jeune syndrome have a high rate of proximal cervical stenosis and should undergo screening with cervical spine films at birth. Significant stenosis or instability may require decompression and cervical-occipital fusion. Arthrogryposis may be associated with a severe scoliosis and jaw contracture may make intubation difficult. Larsen syndrome may have

Phosphatidylinositol 4-Kinase IIIβ Is Required for Severe Acute Respiratory Syndrome Coronavirus Spike-mediated Cell Entry*

PubMed Central

Yang, Ning; Ma, Ping; Lang, Jianshe; Zhang, Yanli; Deng, Jiejie; Ju, Xiangwu; Zhang, Gongyi; Jiang, Chengyu

2012-01-01

Phosphatidylinositol kinases (PI kinases) play an important role in the life cycle of several viruses after infection. Using gene knockdown technology, we demonstrate that phosphatidylinositol 4-kinase IIIβ (PI4KB) is required for cellular entry by pseudoviruses bearing the severe acute respiratory syndrome-coronavirus (SARS-CoV) spike protein and that the cell entry mediated by SARS-CoV spike protein is strongly inhibited by knockdown of PI4KB. Consistent with this observation, pharmacological inhibitors of PI4KB blocked entry of SARS pseudovirions. Further research suggested that PI4P plays an essential role in SARS-CoV spike-mediated entry, which is regulated by the PI4P lipid microenvironment. We further demonstrate that PI4KB does not affect virus entry at the SARS-CoV S-ACE2 binding interface or at the stage of virus internalization but rather at or before virus fusion. Taken together, these results indicate a new function for PI4KB and suggest a new drug target for preventing SARS-CoV infection. PMID:22253445

Seckel syndrome: an overdiagnosed syndrome.

PubMed Central

Thompson, E; Pembrey, M

1985-01-01

Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There remains a heterogeneous group of low birth weight microcephalic dwarfism yet to be defined. Images PMID:4040172

Cushing’s syndrome in childhood: update on genetics, treatment, and outcomes

PubMed Central

Lodish, Maya

2015-01-01

Purpose of review To provide an update on the genes associated with Cushing’s syndrome in children, as well as to familiarize the clinician with recent treatment guidelines and outcome data for children with Cushing’s syndrome. Recent findings The list of genes associated with Cushing’s syndrome continues to grow. In addition, treatment for childhood Cushing’s syndrome is evolving. As long-term follow-up data on children becomes available, clinicians need to be aware of the issues that require attention. Summary Knowledge of the specific genetic causes of Cushing’s syndrome has potential implications for treatment, surveillance, and counseling. Advances in surgical technique, radiation modalities, and medical therapies offer the potential for additional treatment options in Cushing’s syndrome. Early identification and management of post-treatment morbidities in children treated for Cushing’s syndrome is crucial in order to optimize care. PMID:25517021

Ectopic ACTH syndrome caused by pulmonary carcinoid tumourlets.

PubMed

Povedano, S T; Pastor, C V; Seoane, C P; Reina, L J; Moreno, M A; Ortega, R P; López-Rubio, F; López, P B

2001-06-01

The differential diagnosis of Cushing's syndrome is a major challenge to clinical endocrinologists, especially those infrequent cases referred to as occult ectopic ACTH syndromes. Although bronchial carcinoids are well known to be a cause of Cushing's syndrome due to ectopic ACTH secretion, very few cases of carcinoid tumourlets causing an ACTH ectopic syndrome have been reported, and their origin remains controversial. For some authors, tumourlets and typical carcinoids represent distinct pathological entities, whilst others hold that tumourlets are merely microscopic carcinoid tumours. We report a patient with an aggressive Cushing's syndrome that required bilateral adrenalectomy, diagnosed 22 years before a 3-cm lung nodule became apparent on routine chest X-ray. The biopsy after lung surgery revealed a typical peripheral bronchial carcinoid surrounded by tumourlets. Both tumourlets and carcinoid tumour showed strongly positive ACTH immunostaining. Recently, Arioglu et al. (1998) reported a case of Cushing's syndrome caused by pulmonary carcinoid tumourlets, concluding that this entity should be considered in the differential diagnosis of occult ectopic ACTH syndrome. Furthermore, we consider that the carcinoid tumourlets found in our patient, were the initial source of ACTH, leading to Cushing's syndrome with a rapid onset, and that a loss of cell proliferation control in one of such tumourlets many years later, could have resulted in the development of a typical carcinoid tumour, reinforcing the theory of a common origin of these lesions.

The use of recombinant factor VIIa in a patient with Noonan syndrome and life-threatening bleeding.

PubMed

Tofil, Nancy M; Winkler, Margaret K; Watts, Raymond G; Noonan, Jacqueline

2005-05-01

To present a case report of a patient with Noonan syndrome who developed life-threatening gastrointestinal bleeding shortly after cardiac surgery that was successfully treated with recombinant factor VIIa. Case report. Pediatric intensive care unit of a children's hospital. Ten-month-old with Noonan syndrome and massive gastrointestinal bleeding resulting in severe hypovolemic shock. Recombinant factor VIIa was used in this patient's severe bleeding associated with Noonan syndrome after no other supportive measures were successful. Recombinant Factor VIIa significantly decreased the patient's bleeding and allowed his hypovolemic shock to improve. Ultimately, the patient made a complete recovery. Noonan syndrome has a constellation of both cardiac and noncardiac malformations including an increased risk of bleeding, and recombinant factor VIIa is an important agent in the treatment of significant bleeding.

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

PubMed Central

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

2017-01-01

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

A Case Report About Cluster-Tic Syndrome Due to Venous Compression of the Trigeminal Nerve.

PubMed

de Coo, Ilse; van Dijk, J Marc C; Metzemaekers, Jan D M; Haan, Joost

2017-04-01

The term "cluster-tic syndrome" is used for the rare ipsilateral co-occurrence of attacks of cluster headache and trigeminal neuralgia. Medical treatment should combine treatment for cluster headache and trigeminal neuralgia, but is very often unsatisfactory. Here, we describe a 41-year-old woman diagnosed with cluster-tic syndrome who underwent microvascular decompression of the trigeminal nerve, primarily aimed at the "trigeminal neuralgia" part of her pain syndrome. After venous decompression of the trigeminal nerve both a decrease in trigeminal neuralgia and cluster headache attacks was seen. However, the headache did not disappear completely. Furthermore, she reported a decrease in pain intensity of the remaining cluster headache attacks. This case description suggests that venous vascular decompression in cluster-tic syndrome can be remarkably effective, both for trigeminal neuralgia and cluster headache. © 2016 American Headache Society.

Of Mice & Men: Advancements in the Understanding of Down Syndrome

ERIC Educational Resources Information Center

Silverman, Wayne

2007-01-01

Mice have become the model of choice for studies of Down syndrome due to the fact that mouse chromosome 16 bears a striking resemblance to human chromosome 21. This has allowed researchers to create various mouse models of Down syndrome, but this is a tricky business on many levels. Great expertise is required to manipulate DNA to create these…

Data intensive computing at Sandia.

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

Wilson, Andrew T.

2010-09-01

Data-Intensive Computing is parallel computing where you design your algorithms and your software around efficient access and traversal of a data set; where hardware requirements are dictated by data size as much as by desired run times usually distilling compact results from massive data.

A case of refeeding syndrome in a marine recruit.

PubMed

Bunge, Paul D; Frank, Laura L

2013-04-01

Refeeding syndrome is an under-recognized complication of starvation. Presented is a 26-year-old Marine recruit who was found to have hypothermia, mental status changes, and rhabdomyolysis after purposeful weight loss with calorie restriction in conjunction with an arduous exercise program. With rest and food, the patient developed refeeding syndrome, with hypophosphatemia requiring prolonged intravenous replacement. His case is unique in illustrating both malnutrition and refeeding syndrome in someone who appeared to be healthy and was exercising strenuously up to the point of hospital admission. Reprint & Copyright © 2013 Association of Military Surgeons of the U.S.

Frasier syndrome with childhood-onset renal failure.

PubMed

Buzi, F; Mella, P; Pilotta, A; Felappi, B; Camerino, G; Notarangelo, L D

2001-01-01

The Wilms' tumour 1 (WT1) gene encodes a protein which is believed to exert transcriptional and tumour-suppressor activities. Mutations of this gene have occasionally been associated with Wilms' tumour (<15% of cases) and, more consistently, with three syndromes characterized by urogenital abnormalities (WAGR, Denys-Drash and Frasier syndrome). SUBJECT/METHOD: A 25-year-old phenotypic female with a 46,XY karyotype presented with amenorrhoea. An ultrasound scan showed streak gonads and a rudimentary uterus. The patient had a history of post-streptococcal glomerulonephrosis, when aged 4 years, which had rapidly progressed to kidney failure, requiring transplantation at age 8. Frasier syndrome was suspected and confirmed by genetic analysis. In fact, direct sequencing of the PCR product of the intron 9 donor splice site revealed a substitution of guanine for adenine in position +5. Besides being one of the few Frasier syndrome cases to be genetically characterized, this case is interesting because of the unusually early-onset renal failure. Copyright 2001 S. Karger AG, Basel

Raccoon spatial requirements and multi-scale habitat selection within an intensively managed central Appalachian forest

USGS Publications Warehouse

Owen, Sheldon F.; Berl, Jacob L.; Edwards, John W.; Ford, W. Mark; Wood, Petra Bohall

2015-01-01

We studied a raccoon (Procyon lotor) population within a managed central Appalachian hardwood forest in West Virginia to investigate the effects of intensive forest management on raccoon spatial requirements and habitat selection. Raccoon home-range (95% utilization distribution) and core-area (50% utilization distribution) size differed between sexes with males maintaining larger (2×) home ranges and core areas than females. Home-range and core-area size did not differ between seasons for either sex. We used compositional analysis to quantify raccoon selection of six different habitat types at multiple spatial scales. Raccoons selected riparian corridors (riparian management zones [RMZ]) and intact forests (> 70 y old) at the core-area spatial scale. RMZs likely were used by raccoons because they provided abundant denning resources (i.e., large-diameter trees) as well as access to water. Habitat composition associated with raccoon foraging locations indicated selection for intact forests, riparian areas, and regenerating harvest (stands <10 y old). Although raccoons were able to utilize multiple habitat types for foraging resources, a selection of intact forest and RMZs at multiple spatial scales indicates the need of mature forest (with large-diameter trees) for this species in managed forests in the central Appalachians.

Accessing Autonomic Function Can Early Screen Metabolic Syndrome

PubMed Central

Dai, Meng; Li, Mian; Yang, Zhi; Xu, Min; Xu, Yu; Lu, Jieli; Chen, Yuhong; Liu, Jianmin; Ning, Guang; Bi, Yufang

2012-01-01

Background Clinical diagnosis of the metabolic syndrome is time-consuming and invasive. Convenient instruments that do not require laboratory or physical investigation would be useful in early screening individuals at high risk of metabolic syndrome. Examination of the autonomic function can be taken as a directly reference and screening indicator for predicting metabolic syndrome. Methodology and Principal Findings The EZSCAN test, as an efficient and noninvasive technology, can access autonomic function through measuring electrochemical skin conductance. In this study, we used EZSCAN value to evaluate autonomic function and to detect metabolic syndrome in 5,887 participants aged 40 years or older. The EZSCAN test diagnostic accuracy was analyzed by receiver operating characteristic curves. Among the 5,815 participants in the final analysis, 2,541 were diagnosed as metabolic syndrome and the overall prevalence was 43.7%. Prevalence of the metabolic syndrome increased with the elevated EZSCAN risk level (p for trend <0.0001). Moreover, EZSCAN value was associated with an increase in the number of metabolic syndrome components (p for trend <0.0001). Compared with the no risk group (EZSCAN value 0–24), participants at the high risk group (EZSCAN value: 50–100) had a 2.35 fold increased risk of prevalent metabolic syndrome after the multiple adjustments. The area under the curve of the EZSCAN test was 0.62 (95% confidence interval [CI], 0.61–0.64) for predicting metabolic syndrome. The optimal operating point for the EZSCAN value to detect a high risk of prevalent metabolic syndrome was 30 in this study, while the sensitivity and specificity were 71.2% and 46.7%, respectively. Conclusions and Significance In conclusion, although less sensitive and accurate when compared with the clinical definition of metabolic syndrome, we found that the EZSCAN test is a good and simple screening technique for early predicting metabolic syndrome. PMID:22916265

Klippel-Feil syndrome associated with atrial septal defect.

PubMed

Bejiqi, Ramush; Retkoceri, Ragip; Bejiqi, Hana; Zeka, Naim; Maloku, Arlinda; Berisha, Majlinda

2013-01-01

Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back of the head. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition. The etiology of Klippel-Feil syndrome and its associated conditions is unknown. The syndrome can present with a variety of other clinical syndromes, including fetal alcohol syndrome, Goldenhar syndrome, anomalies of the extremities etc. Associated anomalies occur in the auditory system, neural axis, cardiovascular system, and the musculoskeletal system. Cardiovascular anomalies, mainly septal defects, were found in 7 patients in Hensinger's series, with 4 of these individuals requiring corrective surgery. In our case we have had registered a nonrestrictive atrial septal defect and corrective surgical intervention at age 18 months in the Santa Rosa Children's Hospital (USA) has been done successfully. Careful examinations of specialist exclude anomalies in other organs and systems. Radiographs and MRI of the thoracic and lumbosacral spine are obtained and other anomalies have been excluded.

Current Surgical Outcomes of Congenital Heart Surgery for Patients With Down Syndrome in Japan.

PubMed

Hoashi, Takaya; Hirahara, Norimichi; Murakami, Arata; Hirata, Yasutaka; Ichikawa, Hajime; Kobayashi, Junjiro; Takamoto, Shinichi

2018-01-25

Current surgical outcomes of congenital heart surgery for patients with Down syndrome are unclear.Methods and Results:Of 29,087 operations between 2008 and 2012 registered in the Japan Congenital Cardiovascular Surgery Database (JCCVSD), 2,651 were carried out for patients with Down syndrome (9%). Of those, 5 major biventricular repair procedures [ventricular septal defect repair (n=752), atrioventricular septal defect repair (n=452), patent ductus arteriosus closure (n=184), atrial septal defect repair (n=167), tetralogy of Fallot (TOF) repair (n=108)], as well as 2 major single ventricular palliations [bidirectional Glenn (n=21) and Fontan operation (n=25)] were selected and their outcomes were compared. The 90-day and in-hospital mortality rates for all 5 major biventricular repair procedures and bidirectional Glenn were similarly low in patients with Down syndrome compared with patients without Down syndrome. On the other hand, mortality after Fontan operation in patients with Down syndrome was significantly higher than in patients without Down syndrome (42/1,558=2.7% vs. 3/25=12.0%, P=0.005). Although intensive management of pulmonary hypertension is essential, analysis of the JCCVSD revealed favorable early prognostic outcomes after 5 major biventricular procedures and bidirectional Glenn in patients with Down syndrome. Indication of the Fontan operation for patients with Down syndrome should be carefully decided.

Be vigilant for skin manifestations of inherited cancer syndromes.

PubMed

Tidman, Alice SM

2017-01-01

More than 200 hereditary cancer susceptibility syndromes have been described, and it is thought that they account for 5-10% of all cancers. Many have dermatological manifestations (usually lesions, occasionally rashes) which frequently precede other systemic pathology. Dermatological signs are usually non-specific and often trivial in appearance, making their significance easy to overlook and a clinical diagnosis challenging. Histological examination is often required to differentiate lesions. They are usually benign and pathologically unrelated to the primary tumours, with the exception of the atypical moles of the dysplastic naevus syndrome, and may present simply as a cosmetic problem for the patient. However, a number of cancer syndromes exhibit an increased risk of developing malignant skin lesions. For instance, Gorlin syndrome (nevoid basal cell carcinoma syndrome) which typically results in the development of multiple basal cell carcinomas, within the first few decades of life. The majority of cancer syndromes with skin signs are inherited in an autosomal dominant pattern demonstrating complete penetrance before the age of 70. Once a cancer syndrome has been diagnosed, the cornerstone of management is frequent surveillance for the early detection and treatment of malignancy. Genetic testing and counselling should be offered to family members.

Brief Report: Repetitive Behaviour Profiles in Williams syndrome: Cross Syndrome Comparisons with Prader-Willi and Down syndromes.

PubMed

Royston, R; Oliver, C; Moss, J; Adams, D; Berg, K; Burbidge, C; Howlin, P; Nelson, L; Stinton, C; Waite, J

2018-01-01

This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome. IQ and adaptive ability were negatively associated with repetitive questioning in people with Williams syndrome. The profile of repetitive behaviour amongst individuals with Williams syndrome was similar to the comparison syndromes. The cognitive mechanisms underlying these behaviours in genetic syndromes warrant further investigation.

Dermatoglyphic peculiarities in Down's syndrome detection of mosaicism and balanced translocation carriers.

PubMed

Rodewald, A; Zang, K D; Zankl, H; Zankl, M

1981-01-01

The combination of dermatoglyphic patterns and the number and intensity of traits characteristic for Down's syndrome can be statistically expressed by the "Walker" index and the "general" index. More than 96% of a Down's syndrome series and a control series could clearly be separated by the general index. Cytogenetic and dermatoglyphic features were studied in 17 patients with mosaic trisomy 21 and their parents. In the 17 cytogenetically diagnosed patients with mosaic Down's syndrome, a highly significant correlation was observed between the percentage of trisomic cells and the presence of traits characteristic for this syndrome in the dermatoglyphic patterns. The diagnostic problems and the value of dermatoglyphic examination in cases of mosaicism, where the trisomic cell line seems to have disappeared, is discussed. The results of our study also indicate an elevated incidence of a specific dermatoglyphic pattern combination with general index values similar to Down's syndrome in one parent in nearly 20% of Down's syndrome children. The possibility of hidden mosaicism in these parents of Down's syndrome children is discussed. Furthermore, the dermatoglyphic patterns in a large kindred with an inherited 15/21 translocation (21/41 carriers of the balanced translocation; 14/41 chromosomally normal; 6/41 mongoloid members) was analyzed. The data obtained from this translocation family and especially the values obtained in the general index indicate that some dermatoglyphic stigmata are directly associated with the D/21 translocation carrier state and can therefore be used for predicting this state.

Atypical pattern of discriminating sound features in adults with Asperger syndrome as reflected by the mismatch negativity.

PubMed

Kujala, T; Aho, E; Lepistö, T; Jansson-Verkasalo, E; Nieminen-von Wendt, T; von Wendt, L; Näätänen, R

2007-04-01

Asperger syndrome, which belongs to the autistic spectrum of disorders, is characterized by deficits of social interaction and abnormal perception, like hypo- or hypersensitivity in reacting to sounds and discriminating certain sound features. We determined auditory feature discrimination in adults with Asperger syndrome with the mismatch negativity (MMN), a neural response which is an index of cortical change detection. We recorded MMN for five different sound features (duration, frequency, intensity, location, and gap). Our results suggest hypersensitive auditory change detection in Asperger syndrome, as reflected in the enhanced MMN for deviant sounds with a gap or shorter duration, and speeded MMN elicitation for frequency changes.

Implant of permanent pacemaker during acute coronary syndrome: Mortality and associated factors in the ARIAM registry.

PubMed

Pola-Gallego-de-Guzmán, María Dolores; Ruiz-Bailén, Manuel; Martínez-Arcos, Maria-Angeles; Gómez-Blizniak, Artur; Castillo Rivera, Ana-Maria; Molinos, Jesus Cobo

2018-04-01

Patients with acute coronary syndrome complicated with high degree atrioventricular block still have a high mortality. A low percentage of these patients need a permanent pacemaker (PPM) but mortality and associated factors with the PPM implant in acute coronary syndrome patients are not known. We assess whether PPM implant is an independent variable in the mortality of acute coronary syndrome patients. Also, we explored the variables that remain independently associated with PPM implantation. This was an observational study on the Spanish ARIAM register. The inclusion period was from January 2001 to December 2011. This registry included all Andalusian acute coronary syndrome patients. Follow-up for global mortality was until November 2013. We selected 27,608 cases. In 62 patients a PPM was implanted (0.024%). The mean age in PPM patients was 70.71±11.214 years versus 64.46±12.985 years in patients with no PPM. PPM implant was associated independently with age (odds ratio (OR) 1.031, 95% confidence interval (CI) 1.007-1.055), with left ventricular branch block (OR 6.622, 95% CI 2.439-18.181), with any arrhythmia at intensive care unit admission (OR 2.754, 95% CI 1.506-5.025) and with heart failure (OR 3.344, 95% CI 1.78-8.333). PPM implant was independently associated with mortality (OR 11.436, 95% CI 1.576-83.009). In propensity score analysis PPM implant was still associated with mortality (OR 5.79, 95% CI 3.27-25.63). PPM implant is associated with mortality in the acute coronary syndrome population in the ARIAM registry. Advanced age, heart failure, arrhythmias and left ventricular branch block at intensive care unit admission were found associated factors with PPM implant in acute coronary syndrome patient.

[Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

PubMed

Mouelhi, Leila; Chaieb, Mouna; Debbeche, Radhouane; Salem, Mohamed; Sfar, Imene; Trabelsi, Sinda; Gorgi, Yosr; Najjar, Taoufik

2009-02-01

Antiphospholipid syndrome is revealed by Budd Chiari syndrome in 5% of the cases. Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease. Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome. We report the first case of Grave's disease associated with antiphospholipid syndrome, revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.

A mixed methods feasibility study to evaluate the use of a low-intensity, nurse-delivered cognitive behavioural therapy for the treatment of irritable bowel syndrome.

PubMed

Dainty, Andrew David; Fox, Mark; Lewis, Nina; Hunt, Melissa; Holtham, Elizabeth; Timmons, Stephen; Kinsella, Philip; Wragg, Andrew; Callaghan, Patrick

2014-06-17

Irritable bowel syndrome (IBS) is characterised by symptoms such as abdominal pain, constipation, diarrhoea and bloating. These symptoms impact on health-related quality of life, result in excess service utilisation and are a significant burden to healthcare systems. Certain mechanisms which underpin IBS can be explained by a biopsychosocial model which is amenable to psychological treatment using techniques such as cognitive behavioural therapy (CBT). While current evidence supports CBT interventions for this group of patients, access to these treatments within the UK healthcare system remains problematic. A mixed methods feasibility randomised controlled trial will be used to assess the feasibility of a low-intensity, nurse-delivered guided self-help intervention within secondary care gastrointestinal clinics. A total of 60 participants will be allocated across four treatment conditions consisting of: high-intensity CBT delivered by a fully qualified cognitive behavioural therapist, low-intensity guided self-help delivered by a registered nurse, self-help only without therapist support and a treatment as usual control condition. Participants from each of the intervention arms of the study will be interviewed in order to identify potential barriers and facilitators to the implementation of CBT interventions within clinical practice settings. Quantitative data will be analysed using descriptive statistics only. Qualitative data will be analysed using a group thematic analysis. This study will provide essential information regarding the feasibility of nurse-delivered CBT interventions within secondary care gastrointestinal clinics. The data gathered during this study would also provide useful information when planning a substantive trial and will assist funding bodies when considering investment in substantive trial funding. A favourable opinion for this research was granted by the Nottingham 2 Research Ethics Committee. 83683687 (http

Spinal cord magnetic resonance imaging demonstrates sensory neuronal involvement and clinical severity in neuronopathy associated with Sjögren's syndrome

PubMed Central

Mori, K; Koike, H; Misu, K; Hattori, N; Ichimura, M; Sobue, G

2001-01-01

OBJECTIVES—To determine spinal cord MRI findings in neuronopathy associated with Sjögren's syndrome and their correlation with severity of sensory impairment.
METHODS—Clinical and electrophysiological features, pathological findings in the sural nerve, and hyperintensity on T2* weighted MRI in the spinal dorsal columns were evaluated in 14 patients with neuronopathy associated with Sjögren's syndrome.
RESULTS—Of 14 patients, 12 showed high intensity by T2* weighted MRI in the posterior columns of the cervical cord. High intensity areas were seen in both the fasciculus cuneatus and gracilis in nine patients, who showed severe and widespread sensory deficits in the limbs and trunk; these patients also had a high frequency of autonomic symptoms. Somatosensory evoked potentials often could not be elicited. Hyperintensity restricted to the fasciculus gracilis was seen in three patients, who showed sensory deficits restricted to lower limbs without trunk involvement, or with only partial limb involvement; no autonomic symptoms were noted. The two patients who did not show high intensity areas in the dorsal columns showed restricted sensory involvement in the limbs. All patients showed axonal loss predominantly affecting large fibres, without axonal sprouting.
CONCLUSIONS—High intensity areas on T2* weighted MRI in the spinal dorsal columns reflect the degree of sensory neuronal involvement in neuronopathy associated with Sjögren's syndrome; this finding could also be a helpful marker for estimating severity of this neuronopathy.

 PMID:11561032

A Rare Cause of Hypothalamic Obesity, Rohhad Syndrome: 2 Cases.

PubMed

Şiraz, Ülkü Gül; Okdemir, Deniz; Direk, Gül; Akın, Leyla; Hatipoğlu, Nihal; Kendırcı, Mustafa; Kurtoğlu, Selim

2018-03-19

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) syndrome is a rare disease that is difficult to diagnosis and distinguish from genetic obesity syndromes. The underlying causes of the disease has not been fully explained. Hypothalamic dysfunction causes endocrine problems, respiratory dysfunction and autonomic alterations. There are around 80 reported patients due to lack of recognition. We present two female patient suspected of ROHHAD due to weight gain since early childhood. The presented symptoms, respiratory and circulatory dysfunction, hypothalamic hypernatremia, hypothalamo-pituitary hormonal disorders such as santral hypothyrodism, hyperprolactinemia and santral early puberty are completely matched the criteria of ROHHAD syndrome. ROHHAD syndrome should be considered in differential diagnosis since it is difficult to distinguish from causes of monogenic obesity. Early identification of the disease reduces morbidity of the syndrome and patients require regular follow-up by a multidisciplinary approach.

Toxic Shock Syndrome within 24 H of an Office Hysteroscopy.

PubMed

Bhagat, Nanak; Karthikeyan, Akilandeshwari; Kalkur, Sanjaya

2017-01-01

Office hysteroscopy is now a common procedure performed to look at the endometrial cavity and is relatively free of serious complications. A 68-year-old lady, previously fit and well, presented with abdominal pain, rigors, sweats, and vomiting within 24 h of an outpatient hysteroscopy for postmenopausal bleeding. She was diagnosed with streptococcal toxic shock syndrome (STSS) due to Group A beta-hemolytic streptococci. She was managed in the Intensive Care Unit, with inotropic and antibiotic support. She recovered eventually and was discharged home with oral antibiotics. Toxic shock syndrome due to Streptococci is an unusual occurrence, whose incidence has been slowly increasing over the years. However, this appears to be the first case of STSS manifesting within 24 h following an outpatient hysteroscopy.

Frailty syndrome in patients with heart rhythm disorders.

PubMed

Mlynarska, Agnieszka; Mlynarski, Rafal; Golba, Krzysztof S

2017-09-01

To assess the prevalence of frailty syndrome in patients with heart rhythm disorders that qualified for pacemaker implantation. The study included 171 patients (83 women, aged 73.9 ± 6.7 years) who qualified for pacemaker implantation as a result of sinus node dysfunction (81 patients) or atrio-ventricular blocks (AVB; 90 patients). A total of 60 patients (25 women, aged 72.40 ± 7.09 years) without heart rhythm disorders were included in the control group. Frailty syndrome was diagnosed using the Canadian Study of Health and Aging Clinical Frailty Scale test. Frailty syndrome was diagnosed in 25.15% of the patients, and pre-frailty in 36.84% of the patients. Frailty syndrome was diagnosed in 10% of the control group, and the average value of frailty was 3.35 ± 0.92. Frailty occurred significantly more often among patients with AVB (33.34%) compared with patients who were diagnosed with sinus node dysfunction (16.05%); P = 0.0081. The average score of frailty for sinus node dysfunction was 3.71 ± 0.89, and for AVB it was 4.14 ± 0.93; P = 0.0152. In the case of AVB, the women had a statistically more intense level of frailty of 4.54 ± 0.90 as compared with the men 3.87 ± 0.85; P = 0.0294. In the multiple logistic analysis, the presence of any arrhythmia was strongly associated with frailty syndrome (OR 2.1286, 95% CI 1.4594 - 3.1049; P = 0.0001). Frailty syndrome was diagnosed in one-quarter of patients with cardiac arrhythmias, whereas a further 40% were at a higher risk of frailty syndrome, and its occurrence was significantly higher if compared with the control group. Frailty occurred significantly more often among patients with atrio-ventricular blocks, especially in women. The results of the present research showed that there is a statistical association between frailty and arrhythmias. Geriatr Gerontol Int 2017; 17: 1313-1318. © 2016 Japan Geriatrics Society.

Alpha Thalassemia/Mental Retardation Syndrome X-linked Gene Product ATRX Is Required for Proper Replication Restart and Cellular Resistance to Replication Stress*

PubMed Central

Leung, Justin Wai-Chung; Ghosal, Gargi; Wang, Wenqi; Shen, Xi; Wang, Jiadong; Li, Lei; Chen, Junjie

2013-01-01

Alpha thalassemia/mental retardation syndrome X-linked (ATRX) is a member of the SWI/SNF protein family of DNA-dependent ATPases. It functions as a chromatin remodeler and is classified as an SNF2-like helicase. Here, we showed somatic knock-out of ATRX displayed perturbed S-phase progression as well as hypersensitivity to replication stress. ATRX is recruited to sites of DNA damage, required for efficient checkpoint activation and faithful replication restart. In addition, we identified ATRX as a binding partner of MRE11-RAD50-NBS1 (MRN) complex. Together, these results suggest a non-canonical function of ATRX in guarding genomic stability. PMID:23329831

Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia.

PubMed

Kurosawa, Kenji; Enomoto, Keisuke; Tominaga, Makiko; Furuya, Noritaka; Sameshima, Kiyoko; Iai, Mizue; Take, Hiroshi; Shinkai, Masato; Ishikawa, Hiroshi; Yamanaka, Michiko; Matsui, Kiyoshi; Masuno, Mitsuo

2012-06-01

Down syndrome is an autosomal chromosome disorder, characterized by intellectual disability and muscle hypotonia. Muscle hypotonia is observed from neonates to adulthood in Down syndrome patients, but muscle hypertonicity is extremely unusual in this syndrome. During a study period of nine years, we found three patients with severe spastic quadriplegia among 20 cases with Down syndrome and congenital duodenal stenosis/atresia (3/20). However, we could find no patient with spastic quadriplegia among 644 cases with Down syndrome without congenital duodenal stenosis/atresia during the same period (0/644, P < 0.05). Further, we did not find any cases with spastic quadriplegia among 17 patients with congenital duodenal stenosis/atresia without Down syndrome admitted during the same period to use as a control group (0/17, P < 0.05). Our results suggest that congenital duodenal stenosis/atresia is a potential risk factor for spastic quadriplegia in patients with Down syndrome. Long-term survival is improving, and the large majority of people with Down syndrome are expected to live well into adult life. Management and further study for the various problems, representing a low prevalence but serious and specific to patients with Down syndrome, are required to improve their quality of life. © 2012 The Authors. Congenital Anomalies © 2012 Japanese Teratology Society.

Persistent post-traumatic headache, postconcussion syndrome, and whiplash injuries: the evidence for a non-traumatic basis with an historical review.

PubMed

Evans, Randolph W

2010-04-01

There has been intense controversy about postconcussion syndrome since Erichsen's publication in 1866 on railway brain and railway spine. The fascinating history of this debate will be reviewed and then the non-organic explanations for postconcussion syndrome, headaches after head injury, and chronic whiplash injuries and headaches will be explored including the following: psychogenic, psychosocial, sociocultural, base rate misattribution, chronic pain, compensation and litigation, and malingering.

Mechanically ventilated children with 2009 pandemic influenza A/H1N1: results from the National Pediatric Intensive Care Registry in Japan.

PubMed

Tokuhira, Natsuko; Shime, Nobuaki; Inoue, Miho; Kawasaki, Tatsuya; Sakurai, Yoshio; Kurosaka, Norimasa; Ueta, Ikuya; Nakagawa, Satoshi

2012-09-01

To outline the characteristics, clinical course, and outcome of pediatric patients requiring mechanical ventilation with influenza A/H1N1 infection in Japan. Prospective case registry analysis. Eleven pediatric or general intensive care units in Japan. Consecutive patients infected with A/H1N1, aged from 1 month to 16 yrs old admitted to the intensive care unit for mechanical ventilation between July 2009 and March 2010. None. Eighty-one children, aged 6.3 [0.8-13.6] (median [interquartile range]) years, were enrolled. Seventy-four (91%) had mechanical ventilation with tracheal intubation. Median duration of mechanical ventilation was 4 days (range 0.04-87) and 18 patients (23%) required mechanical ventilation >7 days. Two patients (2%) required extracorporeal membrane oxygenation. The in-hospital mortality was 1%. Forty-one patients (50%) had at least one underlying chronic condition, including 31 with asthma. Associated clinical symptoms and diagnosis were as follows: acute respiratory distress syndrome (9%), asthma or bronchitis (37%), pneumonia (68%) with 8 (14%) having bacterial pneumonia, neurological symptoms (32%), myocarditis (2%), and rhabdomyolysis (1%). Therapeutic interventions include inotropic support (21%), methylprednisolone therapy (33%), and antimicrobial therapy (88%). Multivariate analysis revealed that inotropic support was the only statistically significant factor associated with mechanical ventilation for more than a week (odds ratio 5.5, 95% confidence interval 1.5-20.5, p = .005). The clinical presentations of pediatric patients requiring mechanical ventilation for A/H1N1 in Japan were diverse. In-hospital mortality of this population was remarkably low. Rapid access to medical facilities in combination with early administration of antiviral agents may have contributed to the low mortality in this population.

Wells syndrome and its relationship to Churg-Strauss syndrome.

PubMed

Ratzinger, Gudrun; Zankl, Julia; Zelger, Bernhard

2013-08-01

  Wells syndrome has been described as an inflammatory disorder based on typical clinical appearance combined with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Churg-Strauss syndrome, on the other hand, is primarily a diffuse, necrotizing vasculitis but is also typically displaying eosinophils and flame figures. Despite several parallels, the present understanding of these two diseases excludes any pathogenetic relationship.   We describe the clinical course and histopathological appearance of three patients who had initially been diagnosed with Wells syndrome that developed into Churg-Strauss syndrome during the course of their disease.   The clinical presentation of all three patients led to the diagnosis of Wells syndrome by independent specialists. Histopathology showed an eosinophilic infiltrate and flame figures next to features of leukocytoclastic vasculitis. Detailed examination revealed asthma bronchiale and additional symptoms indicating Churg-Strauss syndrome. The initial diagnosis of Wells syndrome had to be revised to Churg-Strauss syndrome.   We conclude that Wells syndrome could be the starting point of a pathogenetic process that might reach its maximum in Churg-Strauss syndrome. As a clinical consequence, patients with Wells syndrome should be evaluated and followed for Churg-Strauss syndrome. © 2013 The International Society of Dermatology.

Childhood cancers in families with and without Lynch syndrome.

PubMed

Heath, John A; Reece, Jeanette C; Buchanan, Daniel D; Casey, Graham; Durno, Carol A; Gallinger, Steven; Haile, Robert W; Newcomb, Polly A; Potter, John D; Thibodeau, Stephen N; Le Marchand, Loïc; Lindor, Noralane M; Hopper, John L; Jenkins, Mark A; Win, Aung Ko

2015-12-01

Inheritance of a germline mutation in one of the DNA mismatch repair (MMR) genes or the EPCAM gene is associated with an increased risk of colorectal cancer, endometrial cancer, and other adult malignancies (Lynch syndrome). The risk of childhood cancers in Lynch syndrome families, however, is not well studied. Using data from the Colon Cancer Family Registry, we compared the proportion of childhood cancers (diagnosed before 18 years of age) in the first-, second-, and third-degree relatives of 781 probands with a pathogenic mutation in one of the MMR genes; MLH1 (n = 275), MSH2 (n = 342), MSH6 (n = 99), or PMS2 (n = 55) or in EPCAM (n = 10) (Lynch syndrome families), with that of 5073 probands with MMR-deficient colorectal cancer (non-Lynch syndrome families). There was no evidence of a difference in the proportion of relatives with a childhood cancer between Lynch syndrome families (41/17,230; 0.24%) and non-Lynch syndrome families (179/94,302; 0.19%; p = 0.19). Incidence rate of all childhood cancers was estimated to be 147 (95% CI 107-206) per million population per year in Lynch syndrome families and 115 (95% CI 99.1-134) per million population per year in non-Lynch syndrome families. There was no evidence for a significant increase in the risk of all childhood cancers, hematologic cancers, brain and central nervous system cancers, Lynch syndrome-associated cancers, or other cancers in Lynch syndrome families compared with non-Lynch syndrome families. Larger studies, however, are required to more accurately define the risk of specific individual childhood cancers in Lynch syndrome families.

Home-care treatment of swimmer syndrome in a miniature schnauzer dog.

PubMed

Kim, Sun-A; Na, Ki-Jeong; Cho, Jong-Ki; Shin, Nam-Shik

2013-09-01

A 50-day-old, female miniature schnauzer dog was presented for astasia, dorsoventral flattening of the thorax, hypoplasia of hind-limb muscles, stiffness of hind-limb joints, paddling leg motion, and panting. The dog was diagnosed with swimmers syndrome. The dog recovered completely following 40 days of home-care treatment that involved environmental and nutritional management along with intensive physiotherapy.

Home-care treatment of swimmer syndrome in a miniature schnauzer dog

PubMed Central

Kim, Sun-A; Na, Ki-Jeong; Cho, Jong-Ki; Shin, Nam-Shik

2013-01-01

A 50-day-old, female miniature schnauzer dog was presented for astasia, dorsoventral flattening of the thorax, hypoplasia of hind-limb muscles, stiffness of hind-limb joints, paddling leg motion, and panting. The dog was diagnosed with swimmers syndrome. The dog recovered completely following 40 days of home-care treatment that involved environmental and nutritional management along with intensive physiotherapy. PMID:24155492

[Strategies to promote testosterone deficiency syndrome: a paradigm of disease mongering].

PubMed

Gavilán, Enrique; Jiménez de Gracia, Laura; Gérvas, Juan

2014-01-01

The so-called «testosterone deficiency syndrome» is a blend of nonspecific symptoms typical of the physiological process of aging. This syndrome has been the subject of intense promotional activity that has presented the phenomenon as highly prevalent and with a major public health impact. This strategy has been accompanied by the emergence of new and easy to administer testosterone devices into the pharmaceutical market and has generated significant sales for drug companies. The commercial promotion of testosterone deficiency syndrome and its remedies has exploited cultural stereotypes of aging and sexuality through awareness campaigns promoted by the laboratories involved and has been disseminated by media with the participation of numerous experts and with the support of scientific associations, representing a paradigmatic case of disease mongering. This example might be of use in the response to disease mongering activities from the clinical and public health fields. Copyright © 2013 SESPAS. Published by Elsevier Espana. All rights reserved.

Reverse or inverted apical ballooning in a case of refeeding syndrome

PubMed Central

Robles, Pablo; Monedero, Isabel; Rubio, Amador; Botas, Javier

2015-01-01

Takotsubo cardiomyopathy is characterized by the development of transient left ventricular regional wall motion abnormalities, in the absence of significant coronary artery obstruction. This syndrome usually occurs in women and is frequently associated with an intense emotional or physical stress. It usually involves apical segments, but in the recent years atypical forms have been described. Inverted or reverse Takotsubo is a variant in which the basal and midventricular segments are hypokinetic, sparing contractile function of the apex. In this report we describe the case of a 54-year-old woman, with chronic malnutrition, initially admitted because of hypoglycemia and severe electrolyte disturbance due to a refeeding syndrome. Within the next hours she experienced acute cardiac symptoms and developed heart failure with low cardiac output. Electrocardiogram (ECG), elevation of troponin and echocardiographic findings were consistent with inverted Takotsubo cardiomyopathy. To the best of our knowledge, this is the first incidence reported of inverted Takotsubo triggered by refeeding syndrome. PMID:26131342

Reverse or inverted apical ballooning in a case of refeeding syndrome.

PubMed

Robles, Pablo; Monedero, Isabel; Rubio, Amador; Botas, Javier

2015-06-26

Takotsubo cardiomyopathy is characterized by the development of transient left ventricular regional wall motion abnormalities, in the absence of significant coronary artery obstruction. This syndrome usually occurs in women and is frequently associated with an intense emotional or physical stress. It usually involves apical segments, but in the recent years atypical forms have been described. Inverted or reverse Takotsubo is a variant in which the basal and midventricular segments are hypokinetic, sparing contractile function of the apex. In this report we describe the case of a 54-year-old woman, with chronic malnutrition, initially admitted because of hypoglycemia and severe electrolyte disturbance due to a refeeding syndrome. Within the next hours she experienced acute cardiac symptoms and developed heart failure with low cardiac output. Electrocardiogram (ECG), elevation of troponin and echocardiographic findings were consistent with inverted Takotsubo cardiomyopathy. To the best of our knowledge, this is the first incidence reported of inverted Takotsubo triggered by refeeding syndrome.

Kindler syndrome.

PubMed

Kaviarasan, P K; Prasad, P V S; Shradda; Viswanathan, P

2005-01-01

Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

Management of intra-abdominal hypertension and abdominal compartment syndrome: a review

PubMed Central

2014-01-01

Patients in the intensive care unit (ICU) are at risk of developing of intra abdominal hypertension (IAH) and abdominal compartment syndrome (ACS). Aim: This review seeks to define IAH and ACS, identify the aetiology and presentation of IAH and ACS, identify IAP measurement techniques, identify current management and discuss the implications of IAH and ACS for nursing practice. A search of the electronic databases was supervised by a health librarian. The electronic data bases Cumulative Index of Nursing and Allied Health Literature (CINAHL); Medline, EMBASE, and the World Wide Web was undertaken from 1996- January 2011 using MeSH and key words which included but not limited to: abdominal compartment syndrome, intra -abdominal hypertension, intra-abdominal pressure in adult populations met the search criteria and were reviewed by three authors using a critical appraisal tool. Data derived from the retrieved material are discussed under the following themes: (1) etiology of intra-abdominal hypertension; (2) strategies for measuring intra-abdominal pressure (3) the manifestation of abdominal compartment syndrome; and (4) the importance of nursing assessment, observation and interventions. Intra-abdominal pressure (IAP) and abdominal compartment syndrome (ACS) have the potential to alter organ perfusion and compromise organ function. PMID:24499574

"Syndrome in syndrome": Wernicke syndrome due to afferent loop syndrome. Case report and review of the literature.

PubMed

D'Abbicco, D; Praino, S; Amoruso, M; Notarnicola, A; Margari, A

2011-01-01

Wernicke syndrome is a rare neurological pathology due to a deficit in vitamin B1. The syndrome is common among alcohol abusers, patients with malignant tumor or gastrointestinal diseases, those who undergo hemodialysis or long-term peritoneal dialysis, pregnant women with hyperemesis, women who breast-feed, patients with hyperthyroidism or anorexia nervosa or gastric or jejunal-ileal bypass surgery for obesity, patients submitted to gastric surgery or prolonged total parenteral nutrition or prolonged intravenous therapy. We report a case of Wernicke syndrome due to afferent loop syndrome characterized by incoercible vomiting.